GENR { RETE|ID 1 HUgn0000001 CHR 1 19 DID 1 LocusLink:1 MAP 1 19q13.4 NAM 1 alpha-1-B glycoprotein ORG 1 Homo sapiens SYM 1 A1BG ID|HUgn0000001 DID|LocusLink:1 ORG|Homo sapiens RSQ|REFSEQ:NM_130786 RPA|REFPROT:NP_570602 DBA|XM:NM_130786 |NA:AC010642 |NA:AF414429 |NA:AK055885 |NA:AK056201 |NA:BC035719 |NA:none PAC|XP:NP_570602 SYM|A1BG NAM|alpha-1-B glycoprotein SYN|A1B |ABG |GAB FNC|alpha 1B-glycoprotein |biological_process unknown ; GO:0000004 REAB|The protein encoded by this gene is a plasma glycoprotein of unknown function. The |protein shows sequence similarity to the variable regions of some immunoglobulin |supergene family member proteins. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390608 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119638 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130786 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130786 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=390608 DBL|UNIGENE:Hs.390608 |OMIM:138670 |SNP:1 MAP|19q13.4 ENZ|molecular_function unknown ; GO:0005554 CEL|extracellular ; GO:0005576 HG|species == rat; score == 409; expect == 2e-114; MEOW:ref|NP_071594.2| (44%) |species == rat; score == 354; expect == 1.2e-97; MEOW:ref|XP_235351.2| (46%) |species == Human; gene == IGSF1; score == 184; expect == 1.3e-46; MEOW:HUgn0003547 (31%) |species == Mouse; gene == Igsf1; score == 174; expect == 1.3e-43; MEOW:MGgn0032854 (30%) } # EOR GENR { RETE|ID 1 HUgn0000002 CHR 1 12 DID 1 LocusLink:2 MAP 1 12p13.3-p12.3 NAM 1 alpha-2-macroglobulin ORG 1 Homo sapiens SYM 1 A2M ID|HUgn0000002 DID|LocusLink:2 ORG|Homo sapiens RSQ|REFSEQ:NM_000014 RPA|REFPROT:NP_000005 DBA|XM:NM_000014 |NA:X68728 |NA:Z11711 |NA:BC040071 |NA:M11313 |NA:M36501 |NA:none PAC|XP:NP_000005 SYM|A2M NAM|alpha-2-macroglobulin FNC|alpha 2 macroglobulin precursor |intracellular protein transport ; GO:0006886 REAB|Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits |many proteases, including trypsin, thrombin and collagenase. A2M is implicated in |Alzheimer disease (AD) due to its ability to mediate the clearance and degradation |of A-beta, the major component of beta-amyloid deposits. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74561 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119639 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000014 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000014 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 DBL|UNIGENE:Hs.74561 |OMIM:103950 |SNP:2 |UWCM:119639.html MAP|12p13.3-p12.3 PHP|Alzheimer disease, susceptibility to |Emphysema due to alpha-2-macroglobulin deficiency ENZ|protein carrier activity ; GO:0008320 |serine protease inhibitor activity ; GO:0004867 |wide-spectrum protease inhibitor activity ; GO:0017114 HG|species == rat; score == 2118; expect == 0.0; MEOW:ref|NP_036620.1| (73%) |species == Human; gene == PZP; score == 2069; expect == 0.0; MEOW:HUgn0005858 (72%) |species == Mouse; gene == A2m; score == 2065; expect == 0.0; MEOW:MGgn0041598 (71%) |species == rat; score == 1713; expect == 0.0; MEOW:ref|XP_346725.1| (59%) |species == Mouse; gene == Mug1; score == 1697; expect == 0.0; MEOW:MGgn0008069 (58%) |species == Fruitfly; gene == TepII; score == 480; expect == 3e-135; MEOW:FBgn0041182 (28%) |species == Worm; gene == ZK337.1b; score == 462; expect == 8e-130; MEOW:CEgn0020894 (28%) |species == Worm; gene == ZK337.1c; score == 457; expect == 3e-128; MEOW:CEgn0034425 (27%) |species == Worm; gene == ZK337.1a; score == 456; expect == 2e-128; MEOW:CEgn0020893 (28%) |species == Mosquito; gene == LOC19522; score == 342; expect == 4.0e-94; MEOW:AGgn0019522 (33%) } # EOR GENR { RETE|ID 1 HUgn0000003 CHR 1 12 DID 1 LocusLink:3 MAP 1 12p13.3-p12.3 NAM 1 alpha-2-macroglobulin pseudogene ORG 1 Homo sapiens SYM 1 A2MP ID|HUgn0000003 DID|LocusLink:3 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M24415 SYM|A2MP NAM|alpha-2-macroglobulin pseudogene CHR|12 MAP|12p13.3-p12.3 DBL|SNP:3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128103 } # EOR GENR { RETE|ID 1 HUgn0000008 CHR 1 11 DID 1 LocusLink:8 MAP 1 11p15 NAM 1 atrophia areata, peripapillary chorioretinal degeneration ORG 1 Homo sapiens SYM 1 AA ID|HUgn0000008 DID|LocusLink:8 ORG|Homo sapiens SYM|AA NAM|atrophia areata, peripapillary chorioretinal degeneration CHR|11 DBL|OMIM:108985 MAP|11p15 PHP|Atrophia areata URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568984 } # EOR GENR { RETE|ID 1 HUgn0000009 CHR 1 8 DID 1 LocusLink:9 MAP 1 8p23.1-p21.3 NAM 1 N-acetyltransferase 1 (arylamine N-acetyltransferase) ORG 1 Homo sapiens SYM 1 NAT1 ID|HUgn0000009 DID|LocusLink:9 ORG|Homo sapiens RSQ|REFSEQ:NM_000662 RPA|REFPROT:NP_000653 DBA|XM:NM_000662 |NA:AF008204 |NA:AF032677 |NA:AF032678 |NA:AF067408 |NA:AF071552 |NA:AF082903 |NA:AF082904 |NA:U80835 |NA:X17059 |NA:BC013732 |NA:BC047666 |NA:BX647521 |NA:D90041 PAC|XP:NP_000653 SYM|NAT1 NAM|N-acetyltransferase 1 (arylamine N-acetyltransferase) SYN|AAC1 FNC|N-acetyltransferase 1 CHR|8 PRD|arylamine N-acetyltransferase-1 |arylamide acetylase 1 (N-acetyltransferase 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155956 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458430 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=9[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125364 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000662 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000662 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155956 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=458430 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA17 |http://www.louisville.edu/medschool/pharmacology/NAT.html DBL|UNIGENE:Hs.155956 |UNIGENE:Hs.458430 |OMIM:108345 |SNP:9 ENZ|EC:2.3.1.5 |arylamine N-acetyltransferase activity ; GO:0004060 MAP|8p23.1-p21.3 PHP|Arylamine N-acetyltransferase 1; N- or O-acetylates arylamines and heterocyclic amines, detoxifies carcinogens and xenobiotics HG|species == Mouse; gene == Nat2; score == 510; expect == 3e-145; MEOW:MGgn0008196 (81%) |species == rat; score == 501; expect == 1e-142; MEOW:ref|NP_446306.1| (80%) |species == Human; gene == NAT2; score == 483; expect == 7e-137; MEOW:HUgn0000010 (80%) |species == rat; score == 461; expect == 2e-130; MEOW:ref|NP_446305.1| (75%) |species == Mouse; gene == Nat1; score == 454; expect == 1e-128; MEOW:MGgn0008195 (73%) |species == rat; score == 417; expect == 3e-117; MEOW:ref|XP_224762.1| (68%) |species == Mouse; gene == Nat3; score == 410; expect == 4e-115; MEOW:MGgn0008197 (68%) } # EOR GENR { RETE|ID 1 HUgn0000010 CHR 1 8 DID 1 LocusLink:10 MAP 1 8p22 NAM 1 N-acetyltransferase 2 (arylamine N-acetyltransferase) ORG 1 Homo sapiens SYM 1 NAT2 ID|HUgn0000010 DID|LocusLink:10 ORG|Homo sapiens RSQ|REFSEQ:NM_000015 RPA|REFPROT:NP_000006 DBA|XM:NM_000015 |NA:AF042740 |NA:AF055874 |NA:AF055875 |NA:D10870 |NA:D10871 |NA:D10872 |NA:M75163 |NA:M75164 |NA:U23052 |NA:U23434 |NA:U53473 |NA:X14672 |NA:BC015878 |NA:D90040 |NA:D90042 |NA:none PAC|XP:NP_000006 SYM|NAT2 NAM|N-acetyltransferase 2 (arylamine N-acetyltransferase) SYN|AAC2 FNC|arylamide acetylase 2 |metabolism ; GO:0008152 REAB|The intronless NAT2 gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase |2). This enzyme functions to both activate and deactivate arylamine and hydrazine |drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation |polymorphism in which human populations segregate into rapid,intermediate, and slow |acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences |of cancer and drug toxicity.A second arylamine N-acetyltransferase gene (NAT1) is |located near NAT2. CHR|8 PRD|Arylamine N-acetyltransferase-2 |arylamide acetylase 2 (N-acetyltransferase 2, isoniazid inactivation) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125365 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000015 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000015 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA18 |http://www.louisville.edu/medschool/pharmacology/NAT.html DBL|UNIGENE:Hs.2 |OMIM:243400 |SNP:10 ENZ|EC:2.3.1.5 |arylamine N-acetyltransferase activity ; GO:0004060 |acetyltransferase activity ; GO:0016407 |transferase activity ; GO:0016740 MAP|8p22 HG|species == Human; gene == NAT1; score == 483; expect == 7e-137; MEOW:HUgn0000009 (80%) |species == Mouse; gene == Nat2; score == 458; expect == 2e-129; MEOW:MGgn0008196 (74%) |species == rat; score == 450; expect == 5e-127; MEOW:ref|NP_446306.1| (73%) |species == rat; score == 443; expect == 4e-125; MEOW:ref|NP_446305.1| (74%) |species == Mouse; gene == Nat1; score == 433; expect == 5e-122; MEOW:MGgn0008195 (72%) |species == rat; score == 390; expect == 4e-109; MEOW:ref|XP_224762.1| (66%) |species == Mouse; gene == Nat3; score == 382; expect == 2e-106; MEOW:MGgn0008197 (65%) } # EOR GENR { RETE|ID 1 HUgn0000011 DID 1 LocusLink:11 NAM 1 arylamide acetylase pseudogene ORG 1 Homo sapiens SYM 1 AACP ID|HUgn0000011 DID|LocusLink:11 CLA|Pseudogene ORG|Homo sapiens SYM|AACP NAM|arylamide acetylase pseudogene SYN|NATP URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132838 } # EOR GENR { RETE|ID 1 HUgn0000012 CHR 1 14 DID 1 LocusLink:12 MAP 1 14q32.1 NAM 1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 ORG 1 Homo sapiens SYM 1 SERPINA3 ID|HUgn0000012 DID|LocusLink:12 ORG|Homo sapiens RSQ|REFSEQ:NM_001085 RPA|REFPROT:NP_001076 DBA|XM:NM_001085 |NA:X00947 |NA:X68733 |NA:AF089747 |NA:AK093049 |NA:AK123091 |NA:BC003559 |NA:BC010530 |NA:BC013189 |NA:BC034554 |NA:J05176 |NA:K01500 |NA:M18906 |NA:none PAC|XP:NP_001076 SYM|SERPINA3 NAM|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 SYN|ACT |AACT FNC|alpha-1-antichymotrypsin, precursor |acute-phase response ; GO:0006953 REAB|The protein encoded by this gene is a plasma protease inhibitor and member of the |serine protease inhibitor class. Polymorphisms in this protein appear to be tissue |specific and influence protease targeting. Variation in this protein's sequence |have been implicated in Alzheimer's disease, and deficiency of this protein has |been associated with liver disease. Mutations have been identified in patients |with Parkinson disease and chronic obstructive pulmonary disease. CHR|14 PRD|antichymotrypsin |alpha-1-antichymotrypsin DBL|OMIM:107280 |SNP:12 MAP|14q32.1 PHP|Alpha-1-antichymotrypsin deficiency |Cerebrovascular disease, occlusive URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=12[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118955 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001085 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001085 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 ENZ|serine protease inhibitor activity ; GO:0004867 HG|species == Mouse; gene == Serpina3c; score == 437; expect == 5e-123; MEOW:MGgn0006809 (54%) |species == Mouse; gene == Serpina3n; score == 435; expect == 2e-122; MEOW:MGgn0011168 (57%) |species == rat; score == 410; expect == 7e-115; MEOW:ref|NP_113719.1| (56%) |species == Mouse; gene == Serpina3m; score == 409; expect == 1e-114; MEOW:MGgn0011169 (56%) |species == rat; score == 399; expect == 2e-111; MEOW:ref|XP_216782.2| (52%) |species == rat; score == 390; expect == 1e-108; MEOW:ref|NP_036789.1| (53%) |species == Mouse; gene == Serpina3k; score == 380; expect == 5e-106; MEOW:MGgn0011166 (53%) |species == rat; score == 367; expect == 6e-102; MEOW:ref|XP_234496.2| (57%) |species == rat; score == 332; expect == 2.5e-91; MEOW:ref|XP_234494.2| (45%) |species == Human; gene == SERPINA6; score == 296; expect == 1.8e-80; MEOW:HUgn0000866 (44%) |species == Human; gene == SERPINA7; score == 281; expect == 6.2e-76; MEOW:HUgn0006906 (41%) |species == Human; gene == SERPINA1; score == 280; expect == 1.1e-75; MEOW:HUgn0005265 (39%) |species == Human; gene == SERPINA5; score == 278; expect == 3.9e-75; MEOW:HUgn0005104 (45%) |species == Human; gene == SERPINA4; score == 275; expect == 3.6e-74; MEOW:HUgn0005267 (43%) |species == Human; gene == LOC256394; score == 261; expect == 4.6e-70; MEOW:HUgn0256394 (37%) |species == Human; gene == SERPINA11; score == 248; expect == 5.0e-66; MEOW:HUgn0327657 (41%) |species == Mosquito; score == 148; expect == 2.8e-36; MEOW:AGgn0015833 (31%) |species == Mosquito; gene == LOC23182; score == 140; expect == 1.0e-33; MEOW:AGgn0023182 (30%) |species == Fruitfly; gene == Spn1; score == 139; expect == 2.4e-33; MEOW:FBgn0028988 (31%) |species == Mosquito; gene == LOC22846; score == 136; expect == 1.9e-32; MEOW:AGgn0022846 (30%) |species == Mosquito; gene == LOC23448; score == 136; expect == 1.1e-32; MEOW:AGgn0023448 (30%) |species == Fruitfly; gene == Spn43Aa; score == 133; expect == 1.3e-31; MEOW:FBgn0024294 (30%) |species == Fruitfly; gene == Spn2; score == 133; expect == 9.9e-32; MEOW:FBgn0028987 (32%) |species == Worm; gene == srp-6; score == 131; expect == 4.4e-31; MEOW:CEgn0003919 (27%) } # EOR GENR { RETE|ID 1 HUgn0000013 CHR 1 3 DID 1 LocusLink:13 MAP 1 3q21.3-q25.2 NAM 1 arylacetamide deacetylase (esterase) ORG 1 Homo sapiens SYM 1 AADAC ID|HUgn0000013 DID|LocusLink:13 ORG|Homo sapiens RSQ|REFSEQ:NM_001086 RPA|REFPROT:NP_001077 DBA|XM:NM_001086 |NA:BC020706 |NA:BC032309 |NA:L32179 |NA:none PAC|XP:NP_001077 SYM|AADAC NAM|arylacetamide deacetylase (esterase) SYN|DAC FNC|arylacetamide deacetylase |metabolism ; GO:0008152 REAB|Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine |N-acetyltransferase, which catalyzes one of the initial biotransformation pathways |for arylamine and heterocyclic amine carcinogens CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=13[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392587 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001086 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=444003 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00623 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00563 DBL|UNIGENE:Hs.444003 |OMIM:600338 |SNP:13 ENZ|EC:3.1.1.- |hydrolase activity ; GO:0016787 MAP|3q21.3-q25.2 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Aadac; score == 575; expect == 1e-164; MEOW:MGgn0025424 (69%) |species == rat; score == 558; expect == 2e-159; MEOW:ref|NP_065413.1| (66%) |species == Human; gene == LOC344752; score == 406; expect == 1e-113; MEOW:HUgn0344752 (50%) } # EOR GENR { RETE|ID 1 HUgn0000014 CHR 1 2 DID 1 LocusLink:14 MAP 1 2q35 NAM 1 angio-associated, migratory cell protein ORG 1 Homo sapiens SYM 1 AAMP ID|HUgn0000014 DID|LocusLink:14 ORG|Homo sapiens RSQ|REFSEQ:NM_001087 RPA|REFPROT:NP_001078 DBA|XM:NM_001087 |NA:AK131047 |NA:BC008809 |NA:BC014122 |NA:BC020244 |NA:BC039866 |NA:M95627 |NA:none PAC|XP:NP_001078 SYM|AAMP NAM|angio-associated, migratory cell protein FNC|angio-associated, migratory cell protein |cell motility ; GO:0006928 REAB|The gene product is an immunoglobulin-type protein. It is found to be expressed strongly |in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma |cells found in lymphatics. The protein contains a heparin-binding domain and mediates |heparin-sensitive cell adhesion. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83347 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=14[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573993 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001087 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001087 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83347 DBL|UNIGENE:Hs.83347 |OMIM:603488 |SNP:14 MAP|2q35 ENZ|heparin binding ; GO:0008201 HG|species == rat; score == 778; expect == 0.0; MEOW:ref|XP_217441.2| (97%) |species == Mouse; gene == Aamp; score == 700; expect == 0.0; MEOW:MGgn0000008 (98%) |species == Mosquito; gene == LOC13761; score == 253; expect == 1.1e-67; MEOW:AGgn0013761 (40%) |species == Mosquito; score == 252; expect == 1.9e-67; MEOW:AGgn0011371 (40%) |species == Weed; gene == At1g71840; score == 222; expect == 3.3e-58; MEOW:ATgn0004027 (33%) |species == rice; score == 217; expect == 7.0e-57; MEOW:gnl|TIGR|8360.m04289 (31%) |species == Fruitfly; gene == CG5114; score == 188; expect == 7.3e-48; MEOW:FBgn0036460 (31%) } # EOR GENR { RETE|ID 1 HUgn0000015 CHR 1 17 DID 1 LocusLink:15 MAP 1 17q25 NAM 1 arylalkylamine N-acetyltransferase ORG 1 Homo sapiens SYM 1 AANAT ID|HUgn0000015 DID|LocusLink:15 ORG|Homo sapiens RSQ|REFSEQ:NM_001088 RPA|REFPROT:NP_001079 DBA|XM:NM_001088 |NA:U40391 |NA:U40347 |NA:none PAC|XP:NP_001079 SYM|AANAT NAM|arylalkylamine N-acetyltransferase SYN|SNAT |AA-NAT FNC|arylalkylamine N-acetyltransferase |circadian rhythm ; GO:0007623 REAB|Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. |It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm |in melatonin production in the vertebrate pineal gland. Melatonin is essential for |seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic |nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when |animals are exposed to light at night. This protein is 80% identical to sheep and |rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic |diseases such as altered behavior in sleep/wake cycle. CHR|17 PRD|Serotonin N-acetyltransferase |serotonin N-acetyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=431417 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=15[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:700076 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001088 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001088 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.500+OR+arev.section.520+OR+arev.section.524 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24366 DBL|UNIGENE:Hs.431417 |OMIM:600950 |SNP:15 ENZ|EC:2.3.1.87 |acyltransferase activity ; GO:0008415 |aralkylamine N-acetyltransferase activity ; GO:0004059 |transferase activity ; GO:0016740 MAP|17q25 HG|species == rat; score == 357; expect == 2.4e-99; MEOW:ref|NP_036950.1| (84%) |species == Mouse; gene == Aanat; score == 356; expect == 2.8e-99; MEOW:MGgn0000009 (86%) |species == Zfish; gene == aanat2; score == 238; expect == 1.3e-64; MEOW:ZFgn0000609 (60%) } # EOR GENR { RETE|ID 1 HUgn0000016 CHR 1 16 DID 1 LocusLink:16 MAP 1 16q22 NAM 1 alanyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 AARS ID|HUgn0000016 DID|LocusLink:16 ORG|Homo sapiens RSQ|REFSEQ:NM_001605 RPA|REFPROT:NP_001596 DBA|XM:NM_001605 |NA:BC011451 |NA:D16969 |NA:D32050 |NA:none PAC|XP:NP_001596 SYM|AARS NAM|alanyl-tRNA synthetase FNC|alanyl-tRNA synthetase |alanyl-tRNA aminoacylation ; GO:0006419 |tRNA processing ; GO:0008033 |protein biosynthesis ; GO:0006412 REAB|The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of |the class II enzymes. Class II tRNA synthases evolved early in evolution and are |highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide |human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the |enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs |that contain the cognate trinucleotide anticodons. They consist of a catalytic |domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and |a second domain which interacts with the rest of the tRNA structure. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=16[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595485 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001605 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001605 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=315137 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.315137 |OMIM:601065 |SNP:16 ENZ|EC:6.1.1.7 |tRNA binding ; GO:0000049 |nucleic acid binding ; GO:0003676 |ATP binding ; GO:0005524 |alanine-tRNA ligase activity ; GO:0004813 |ligase activity ; GO:0016874 MAP|16q22 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 1807; expect == 0.0; MEOW:ref|XP_214690.2| (93%) |species == Mosquito; gene == LOC13174; score == 1140; expect == 0.0; MEOW:AGgn0013174 (59%) |species == Worm; gene == ars-2; score == 1102; expect == 0.0; MEOW:CEgn0009587 (57%) |species == Yeast; gene == ALA1; score == 896; expect == 0.0; MEOW:SGgn0005862 (50%) |species == Weed; gene == At1g50200; score == 850; expect == 0.0; MEOW:ATgn0001757 (48%) |species == Human; gene == AARSL; score == 786; expect == 0.0; MEOW:HUgn0057505 (45%) |species == Mouse; gene == Aars; score == 656; expect == 0.0; MEOW:MGgn0042046 (96%) |species == ecoli; score == 541; expect == 1e-154; MEOW:ref|NP_417177.1| (38%) |species == Fruitfly; gene == Aats-ala-m; score == 489; expect == 4e-138; MEOW:FBgn0028962 (34%) |species == Fruitfly; gene == Aats-ala; score == 474; expect == 6e-134; MEOW:FBgn0027094 (48%) |species == rice; score == 459; expect == 1e-128; MEOW:gnl|TIGR|8354.m01280 (33%) |species == rice; score == 438; expect == 1e-122; MEOW:gnl|TIGR|8362.m00744 (62%) |species == rice; score == 406; expect == 1e-112; MEOW:gnl|TIGR|8362.m00745 (39%) } # EOR GENR { RETE|ID 1 HUgn0000017 CHR 1 19 DID 1 LocusLink:17 MAP 1 19q13 NAM 1 adeno-associated virus integration site 1 ORG 1 Homo sapiens SYM 1 AAVS1 ID|HUgn0000017 DID|LocusLink:17 ORG|Homo sapiens DBA|NA:S51329 SYM|AAVS1 NAM|adeno-associated virus integration site 1 SYN|AAV CHR|19 DBL|OMIM:102699 MAP|19q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125369 } # EOR GENR { RETE|ID 1 HUgn0000018 CHR 1 16 DID 1 LocusLink:18 MAP 1 16p13.3 NAM 1 4-aminobutyrate aminotransferase ORG 1 Homo sapiens SYM 1 ABAT ID|HUgn0000018 DID|LocusLink:18 ORG|Homo sapiens RSQ|REFSEQ:NM_000663 RPA|REFPROT:NP_000654 DBA|XM:NM_000663 |NA:BC013965 |NA:BC015628 |NA:BC031413 |NA:L32961 |NA:S75578 |NA:U80226 |NA:none PAC|XP:NP_000654 SYM|ABAT NAM|4-aminobutyrate aminotransferase SYN|GABAT FNC|4-aminobutyrate aminotransferase precursor |synaptic transmission ; GO:0007268 |neurotransmitter catabolism ; GO:0042135 |aminobutyrate metabolism ; GO:0009448 REAB|4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric |acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous |system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits |complexed to pyridoxal-5-phosphate. ABAT cDNA encodes a 500-amino acid protein that |is over 95% similar to the pig protein. GABA is estimated to be present in nearly |one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant |alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency |phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, |refractory seizures, and EEG abnormalities. CHR|16 PRD|GABA transferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1588 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=18[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:581658 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000663 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000663 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1588 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=18 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.1588 |OMIM:137150 |SNP:18 ENZ|EC:2.6.1.19 |4-aminobutyrate transaminase activity ; GO:0003867 |transferase activity ; GO:0016740 MAP|16p13.3 PHP|GABA-transaminase deficiency CEL|mitochondrial matrix ; GO:0005759 HG|species == rat; score == 936; expect == 0.0; MEOW:ref|NP_112265.1| (90%) |species == Mouse; gene == 9630038C02Rik; score == 756; expect == 0.0; MEOW:MGgn0041356 (77%) |species == Mosquito; gene == LOC21720; score == 528; expect == 2e-150; MEOW:AGgn0021720 (54%) |species == Fruitfly; gene == CG7433; score == 516; expect == 8e-147; MEOW:FBgn0036927 (53%) |species == Yeast; gene == UGA1; score == 367; expect == 2e-102; MEOW:SGgn0003251 (42%) } # EOR GENR { RETE|ID 1 HUgn0000019 CHR 1 9 DID 1 LocusLink:19 MAP 1 9q31.1 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 1 ORG 1 Homo sapiens SYM 1 ABCA1 ID|HUgn0000019 DID|LocusLink:19 ORG|Homo sapiens RSQ|REFSEQ:NM_005502 RPA|REFPROT:NP_005493 DBA|XM:NM_005502 |NA:AF165286 |NA:AF275948 |NA:AB055982 |NA:AF165281 |NA:AF285167 |NA:AJ012376 |NA:AK024328 |NA:none PAC|XP:NP_005493 SYM|ABCA1 NAM|ATP-binding cassette, sub-family A (ABC1), member 1 SYN|TGD |ABC1 |CERP |HDLDT1 FNC|ATP-binding cassette, sub-family A member 1 |phagocytosis, engulfment ; GO:0006911 |cholesterol metabolism ; GO:0008203 |small molecule transport ; GO:0006832 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. With cholesterol as its |substrate, this protein functions as a cholesteral efflux pump in the cellular lipid |removal pathway. Mutations in this gene have been associated with Tangier's disease |and familial high-density lipoprotein deficiency. CHR|9 PRD|ATP-binding cassette 1 |cholesterol efflux regulatory protein |high density lipoprotein deficiency, Tangier type, 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147259 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=19[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:305294 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005502 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005502 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://www.ncbi.nlm.nih.gov/disease/tangier.html |http://www.humanabc.org DBL|UNIGENE:Hs.147259 |OMIM:600046 |SNP:19 MAP|9q31.1 PHP|Cerebral amyloid angiopathy |HDL deficiency, familial |Tangier disease ENZ|anion transporter activity ; GO:0008509 |sterol transporter activity ; GO:0015248 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |adenosinetriphosphatase activity ; GO:0004002 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca1; score == 4052; expect == 0.0; MEOW:MGgn0000015 (95%) |species == Human; gene == ABCA4; score == 2128; expect == 0.0; MEOW:HUgn0000024 (50%) |species == Human; gene == ABCA7; score == 1932; expect == 0.0; MEOW:HUgn0010347 (52%) |species == rat; score == 1900; expect == 0.0; MEOW:ref|XP_232954.2| (91%) |species == Mosquito; score == 491; expect == 2e-138; MEOW:AGgn0028715 (37%) |species == Mosquito; gene == LOC22300; score == 489; expect == 5e-138; MEOW:AGgn0022300 (34%) |species == Mosquito; gene == LOC9155; score == 485; expect == 8e-137; MEOW:AGgn0009155 (36%) |species == Fruitfly; gene == CG1718; score == 461; expect == 1e-129; MEOW:FBgn0031170 (35%) |species == Mosquito; score == 459; expect == 6e-129; MEOW:AGgn0027182 (36%) |species == Mosquito; gene == LOC13004; score == 429; expect == 5e-120; MEOW:AGgn0013004 (39%) |species == Mosquito; gene == LOC9427; score == 427; expect == 2e-119; MEOW:AGgn0009427 (35%) |species == Fruitfly; gene == CG6052; score == 399; expect == 1e-110; MEOW:FBgn0036747 (32%) |species == Weed; gene == At2g41700; score == 350; expect == 4.2e-96; MEOW:ATgn0007560 (32%) |species == Worm; gene == ced-7; score == 280; expect == 3.6e-75; MEOW:CEgn0000158 (30%) |species == rice; score == 231; expect == 1.2e-60; MEOW:gnl|TIGR|8351.m01020 (29%) |species == rice; score == 229; expect == 5.8e-60; MEOW:gnl|TIGR|8356.m02939 (27%) |species == rice; score == 217; expect == 2.2e-56; MEOW:gnl|TIGR|8354.m03592 (34%) |species == rice; score == 215; expect == 7.7e-56; MEOW:gnl|TIGR|8357.m01639 (28%) |species == rice; score == 213; expect == 4.1e-55; MEOW:gnl|TIGR|8356.m02942 (29%) |species == rice; score == 186; expect == 4.4e-47; MEOW:gnl|TIGR|8356.m02943 (32%) } # EOR GENR { RETE|ID 1 HUgn0000020 CHR 1 9 DID 1 LocusLink:20 MAP 1 9q34 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 2 ORG 1 Homo sapiens SYM 1 ABCA2 ID|HUgn0000020 DID|LocusLink:20 ORG|Homo sapiens RSQ|REFSEQ:NM_001606 RPA|REFPROT:NP_001597 DBA|XM:NM_001606 |NA:AF327658 |NA:AF327659 |NA:AF327660 |NA:AF327661 |NA:AF327662 |NA:AF327663 |NA:AF327664 |NA:AF327665 |NA:AF327666 |NA:AF327667 |NA:AF327668 |NA:AF327669 |NA:AF327670 |NA:AF327671 |NA:AF327672 |NA:AF327673 |NA:AF327674 |NA:AF327675 |NA:AF327676 |NA:AF327677 |NA:AF327678 |NA:AF327679 |NA:AF327680 |NA:AF327681 |NA:AF327682 |NA:AF327683 |NA:AF327684 |NA:AF327685 |NA:AF327686 |NA:AF327687 |NA:AF327688 |NA:AF327689 |NA:AF327690 |NA:AF327691 |NA:AF327692 |NA:AF327693 |NA:AF327694 |NA:AF327695 |NA:AF327696 |NA:AF327697 |NA:AF327698 |NA:AF327699 |NA:AF327700 |NA:AF327701 |NA:AF327702 |NA:AF327703 |NA:AF327704 |NA:AF327705 |NA:AB028985 |NA:AF178941 |NA:AF327657 |NA:AL162060 |NA:BC008755 |NA:BC029282 |NA:U18235 |NA:U18236 |NA:none PAC|XP:NP_001597 SYM|ABCA2 NAM|ATP-binding cassette, sub-family A (ABC1), member 2 SYN|ABC2 |KIAA1062 FNC|ATP-binding cassette, sub-family A, member 2 |small molecule transport ; GO:0006832 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. This protein is highly |expressed in brain tissue and may play a role in macrophage lipid metabolism and |neural development. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=20[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:305295 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001606 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001606 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421202 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA1062 |http://www.humanabc.org DBL|UNIGENE:Hs.421202 |OMIM:600047 |SNP:20 MAP|9q34 ENZ|ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 4232; expect == 0.0; MEOW:ref|NP_077372.1| (92%) |species == Mouse; gene == Abca2; score == 4089; expect == 0.0; MEOW:MGgn0000017 (90%) |species == Human; gene == ABCA1; score == 1494; expect == 0.0; MEOW:HUgn0000019 (44%) |species == Mosquito; score == 491; expect == 2e-138; MEOW:AGgn0027182 (39%) |species == Mosquito; gene == LOC22300; score == 488; expect == 9e-138; MEOW:AGgn0022300 (38%) |species == Mosquito; score == 474; expect == 2e-133; MEOW:AGgn0028715 (38%) |species == Mosquito; gene == LOC9155; score == 470; expect == 3e-132; MEOW:AGgn0009155 (36%) |species == Mosquito; gene == LOC9427; score == 468; expect == 8e-132; MEOW:AGgn0009427 (36%) |species == Fruitfly; gene == CG1718; score == 463; expect == 3e-130; MEOW:FBgn0031170 (33%) |species == Mosquito; gene == LOC13004; score == 431; expect == 1e-120; MEOW:AGgn0013004 (38%) |species == Fruitfly; gene == CG6052; score == 406; expect == 6e-113; MEOW:FBgn0036747 (33%) |species == Weed; gene == At2g41700; score == 374; expect == 4e-103; MEOW:ATgn0007560 (35%) |species == Worm; gene == ced-7; score == 327; expect == 2.8e-89; MEOW:CEgn0000158 (32%) |species == rice; score == 227; expect == 2.2e-59; MEOW:gnl|TIGR|8351.m01020 (27%) |species == rice; score == 226; expect == 6.1e-59; MEOW:gnl|TIGR|8356.m02942 (29%) |species == rice; score == 225; expect == 6.4e-58; MEOW:gnl|TIGR|8357.m01639 (27%) |species == rice; score == 221; expect == 9.2e-57; MEOW:gnl|TIGR|8354.m03592 (28%) |species == rice; score == 219; expect == 2.7e-56; MEOW:gnl|TIGR|8356.m02939 (26%) |species == rice; score == 203; expect == 2.0e-51; MEOW:gnl|TIGR|8356.m02943 (26%) } # EOR GENR { RETE|ID 1 HUgn0000021 CHR 1 16 DID 1 LocusLink:21 MAP 1 16p13.3 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 3 ORG 1 Homo sapiens SYM 1 ABCA3 ID|HUgn0000021 DID|LocusLink:21 ORG|Homo sapiens RSQ|REFSEQ:NM_001089 RPA|REFPROT:NP_001080 DBA|XM:NM_001089 |NA:AC005212 |NA:AC007162 |NA:AB070929 |NA:U78735 |NA:X97187 |NA:none PAC|XP:NP_001080 SYM|ABCA3 NAM|ATP-binding cassette, sub-family A (ABC1), member 3 SYN|ABC3 |ABC-C |LBM180 |EST111653 FNC|ATP-binding cassette, sub-family A member 3 |drug resistance ; GO:0009315 |transport ; GO:0006810 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. The full transporter encoded |by this gene may be involved in development of resistance to xenobiotics and engulfment |during programmed cell death. CHR|16 PRD|ABC transporter 3 |ATP-binding cassette 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26630 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=21[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3770735 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001089 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001089 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155 |http://www.humanabc.org DBL|UNIGENE:Hs.26630 |OMIM:601615 |SNP:21 MAP|16p13.3 ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca3; score == 2888; expect == 0.0; MEOW:MGgn0013319 (87%) |species == rat; score == 2851; expect == 0.0; MEOW:ref|XP_220219.2| (85%) |species == Mosquito; gene == LOC9155; score == 1125; expect == 0.0; MEOW:AGgn0009155 (38%) |species == Mosquito; score == 1101; expect == 0.0; MEOW:AGgn0028715 (37%) |species == Mosquito; gene == LOC22300; score == 1087; expect == 0.0; MEOW:AGgn0022300 (37%) |species == Fruitfly; gene == CG1718; score == 1062; expect == 0.0; MEOW:FBgn0031170 (37%) |species == Mosquito; score == 1048; expect == 0.0; MEOW:AGgn0027182 (36%) |species == Mosquito; gene == LOC9427; score == 1005; expect == 0.0; MEOW:AGgn0009427 (36%) |species == Fruitfly; gene == CG6052; score == 865; expect == 0.0; MEOW:FBgn0036747 (32%) |species == Weed; gene == At2g41700; score == 682; expect == 0.0; MEOW:ATgn0007560 (31%) |species == Worm; gene == ced-7; score == 535; expect == 7e-152; MEOW:CEgn0000158 (26%) |species == Human; gene == ABCA2; score == 511; expect == 3e-144; MEOW:HUgn0000020 (38%) |species == Human; gene == ABCA1; score == 503; expect == 3e-142; MEOW:HUgn0000019 (39%) |species == Human; gene == ABCA4; score == 490; expect == 3e-138; MEOW:HUgn0000024 (38%) |species == Human; gene == ABCA7; score == 462; expect == 7e-130; MEOW:HUgn0010347 (36%) |species == Human; gene == ABCA12; score == 456; expect == 7e-128; MEOW:HUgn0026154 (33%) |species == rice; score == 251; expect == 1.1e-66; MEOW:gnl|TIGR|8351.m01020 (30%) |species == rice; score == 240; expect == 4.3e-63; MEOW:gnl|TIGR|8356.m02939 (29%) |species == rice; score == 235; expect == 3.3e-61; MEOW:gnl|TIGR|8354.m03592 (31%) |species == rice; score == 233; expect == 3.6e-61; MEOW:gnl|TIGR|8357.m01639 (29%) |species == rice; score == 231; expect == 8.0e-60; MEOW:gnl|TIGR|8356.m02942 (30%) |species == rice; score == 217; expect == 1.2e-55; MEOW:gnl|TIGR|8356.m02943 (30%) |species == ecoli; score == 136; expect == 1.0e-32; MEOW:ref|NP_414669.1| (36%) |species == ecoli; score == 132; expect == 1.5e-31; MEOW:ref|NP_415315.1| (34%) |species == ecoli; score == 132; expect == 1.5e-31; MEOW:ref|NP_417943.1| (36%) } # EOR GENR { RETE|ID 1 HUgn0000022 CHR 1 X DID 1 LocusLink:22 MAP 1 Xq12-q13 NAM 1 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ORG 1 Homo sapiens SYM 1 ABCB7 ID|HUgn0000022 DID|LocusLink:22 ORG|Homo sapiens RSQ|REFSEQ:NM_004299 RPA|REFPROT:NP_004290 DBA|XM:NM_004299 |NA:AB005289 |NA:AF038950 |NA:AF078777 |NA:AF133659 |NA:AK001418 |NA:BC006323 |NA:BT009918 |NA:BX537833 |NA:none PAC|XP:NP_004290 SYM|ABCB7 NAM|ATP-binding cassette, sub-family B (MDR/TAP), member 7 SYN|ABC7 |ASAT |Atm1p |EST140535 FNC|ATP-binding cassette, sub-family B, member 7 |transport ; GO:0006810 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intra-cellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug |resistance as well as antigen presentation. This gene encodes a half-transporter |involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur |cluster precursors as its substrates, this protein may play a role in metal homeostasis. | Mutations in this gene have been implicated in X-linked sideroblastic anemia with |ataxia. CHR|X PRD|ATP-binding cassette 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370480 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=22[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7016795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004299 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004299 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.152+OR+mono_001.section.179+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370480 |http://www.geneclinics.org/query?mim=300135 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24389 |http://www.humanabc.org DBL|UNIGENE:Hs.370480 |OMIM:300135 |SNP:22 MAP|Xq12-q13 PHP|Anemia, sideroblastic, with ataxia ENZ|heme transporter activity ; GO:0015232 |nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |mitochondrial inner membrane ; GO:0005743 HG|species == rat; score == 1237; expect == 0.0; MEOW:ref|XP_217569.2| (88%) |species == Mosquito; gene == LOC13018; score == 676; expect == 0.0; MEOW:AGgn0013018 (59%) |species == Fruitfly; gene == CG7955; score == 656; expect == 0.0; MEOW:FBgn0035244 (58%) |species == Worm; gene == Y74C10AM.1; score == 622; expect == 2e-178; MEOW:CEgn0028856 (56%) |species == Weed; gene == At5g58270; score == 597; expect == 1e-170; MEOW:ATgn0024285 (54%) |species == Weed; gene == At4g28630; score == 581; expect == 5e-166; MEOW:ATgn0019383 (52%) |species == Weed; gene == At4g28620; score == 574; expect == 5e-164; MEOW:ATgn0019382 (50%) |species == Yeast; gene == ATM1; score == 552; expect == 3e-157; MEOW:SGgn0004916 (48%) |species == rice; score == 498; expect == 1e-140; MEOW:gnl|TIGR|8354.m00272 (57%) |species == Mouse; gene == Abcb6; score == 437; expect == 2e-122; MEOW:MGgn0016464 (41%) |species == Human; gene == ABCB6; score == 433; expect == 2e-121; MEOW:HUgn0010058 (41%) |species == ecoli; score == 232; expect == 7.7e-62; MEOW:ref|NP_415434.1| (32%) |species == Zfish; gene == abcc4; score == 156; expect == 3.1e-39; MEOW:ZFgn0013883 (29%) } # EOR GENR { RETE|ID 1 HUgn0000023 CHR 1 6 DID 1 LocusLink:23 MAP 1 6p21.33 NAM 1 ATP-binding cassette, sub-family F (GCN20), member 1 ORG 1 Homo sapiens SYM 1 ABCF1 ID|HUgn0000023 DID|LocusLink:23 ORG|Homo sapiens RSQ|REFSEQ:NM_001090 RPA|REFPROT:NP_001081 DBA|XM:NM_001090 |NA:AB023052 |NA:AC006138 |NA:AF027302 |NA:AL832430 |NA:BC016772 |NA:BC034488 PAC|XP:NP_001081 SYM|ABCF1 NAM|ATP-binding cassette, sub-family F (GCN20), member 1 SYN|ABC27 |ABC50 |EST123147 FNC|ATP-binding cassette, sub-family F, member 1 |protein biosynthesis ; GO:0006412 |inflammatory response ; GO:0006954 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. |Unlike other members of the superfamily, this protein lacks the transmembrane domains |which are characteristic of most ABC transporters. This protein may be regulated |by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis |and the inflammation process. CHR|6 PRD|ATP-binding cassette 50 |ATP-binding cassette 50 (TNF-alpha stimulated) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=23[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836817 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001090 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001090 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.211+OR+mono_001.table.145+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9573 |http://www.humanabc.org DBL|UNIGENE:Hs.9573 |OMIM:603429 |SNP:23 MAP|6p21.33 ENZ|translation factor activity, nucleic acid binding ; GO:0008135 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 HG|species == chimp; score == 1038; expect == 0.0; MEOW:sp|BAC78179|BAC78179 (99%) |species == rat; score == 995; expect == 0.0; MEOW:ref|XP_342084.1| (86%) |species == Mosquito; gene == LOC16545; score == 700; expect == 0.0; MEOW:AGgn0016545 (66%) |species == Worm; gene == F18E2.2; score == 654; expect == 0.0; MEOW:CEgn0008740 (61%) |species == Mosquito; score == 624; expect == 5e-179; MEOW:AGgn0025805 (64%) |species == Weed; gene == At3g54540; score == 495; expect == 3e-140; MEOW:ATgn0028529 (43%) |species == Fruitfly; gene == CG1703; score == 493; expect == 1e-139; MEOW:FBgn0030321 (67%) |species == rice; score == 444; expect == 6e-125; MEOW:gnl|TIGR|8360.m02979 (49%) |species == Fruitfly; gene == CG9330; score == 440; expect == 1e-123; MEOW:FBgn0036888 (46%) |species == Weed; gene == At1g64550; score == 424; expect == 1e-118; MEOW:ATgn0003295 (39%) |species == rice; score == 408; expect == 5e-114; MEOW:gnl|TIGR|8356.m04386 (42%) |species == Weed; gene == At5g60790; score == 407; expect == 1e-113; MEOW:ATgn0021021 (42%) |species == rice; score == 407; expect == 7e-114; MEOW:gnl|TIGR|8357.m03355 (43%) |species == Yeast; gene == YER036C; score == 394; expect == 1e-109; MEOW:SGgn0000838 (39%) |species == Mouse; gene == Abcf3; score == 393; expect == 2e-109; MEOW:MGgn0013333 (42%) |species == Human; gene == ABCF3; score == 373; expect == 2e-103; MEOW:HUgn0055324 (42%) |species == rice; score == 370; expect == 2e-102; MEOW:gnl|TIGR|8352.m05260 (41%) |species == Human; gene == ABCF2; score == 367; expect == 1e-101; MEOW:HUgn0010061 (38%) |species == Yeast; gene == GCN20; score == 355; expect == 4.0e-98; MEOW:SGgn0001905 (36%) |species == Mouse; gene == Abcf2; score == 354; expect == 9.5e-98; MEOW:MGgn0013332 (37%) |species == ecoli; score == 312; expect == 5.5e-85; MEOW:ref|NP_417811.1| (36%) |species == ecoli; score == 259; expect == 3.4e-69; MEOW:ref|NP_415341.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0000024 CHR 1 1 DID 1 LocusLink:24 MAP 1 1p22.1-p21 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 4 ORG 1 Homo sapiens SYM 1 ABCA4 ID|HUgn0000024 DID|LocusLink:24 ORG|Homo sapiens RSQ|REFSEQ:NM_000350 RPA|REFPROT:NP_000341 DBA|XM:NM_000350 |NA:Y15635 |NA:AF000148 |NA:AF001945 |NA:U88667 |NA:none PAC|XP:NP_000341 SYM|ABCA4 NAM|ATP-binding cassette, sub-family A (ABC1), member 4 SYN|FFM |RMP |ABCR |RP19 |STGD |ABC10 |STGD1 FNC|ATP-binding cassette, sub-family A member 4 |phototransduction, visible light ; GO:0007603 |transport ; GO:0006810 |vision ; GO:0007601 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific |ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively |in retina photoreceptor cells, indicating the gene product mediates transport of |an essental molecule across the photoreceptor cell membrane. Mutations in this gene |are found in patients diagnosed with Stargardt disease and are associated with retinitis |pigmentosa-19 and macular degeneration age-related 2. CHR|1 PRD|rim protein |ATP binding cassette transporter |ATP-binding transporter, retina-specific URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416707 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=24[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:370748 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000350 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000350 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.161+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://www.geneclinics.org/query?mim=601691 |http://www.humanabc.org |http://www.retina-international.com/sci-news/abcrmut.htm DBL|UNIGENE:Hs.416707 |OMIM:601691 |SNP:24 |UWCM:370748.html MAP|1p22.1-p21 PHP|Cone-rod dystrophy 3 |Fundus flavimaculatus |Macular dystrophy, age-related, 2 |Retinitis pigmentosa-19 |Stargardt disease-1 ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca4; score == 4012; expect == 0.0; MEOW:MGgn0000016 (88%) |species == rat; score == 2481; expect == 0.0; MEOW:ref|XP_241525.2| (80%) |species == Human; gene == ABCA1; score == 2128; expect == 0.0; MEOW:HUgn0000019 (50%) |species == Mosquito; score == 472; expect == 7e-133; MEOW:AGgn0028715 (35%) |species == Mosquito; gene == LOC9155; score == 467; expect == 2e-131; MEOW:AGgn0009155 (34%) |species == Mosquito; score == 431; expect == 2e-120; MEOW:AGgn0027182 (33%) |species == Fruitfly; gene == CG1718; score == 422; expect == 5e-118; MEOW:FBgn0031170 (37%) |species == Mosquito; gene == LOC22300; score == 418; expect == 1e-116; MEOW:AGgn0022300 (37%) |species == Mosquito; gene == LOC9427; score == 414; expect == 2e-115; MEOW:AGgn0009427 (31%) |species == Mosquito; gene == LOC13004; score == 403; expect == 3e-112; MEOW:AGgn0013004 (38%) |species == Fruitfly; gene == CG6052; score == 368; expect == 2e-101; MEOW:FBgn0036747 (31%) |species == Weed; gene == At2g41700; score == 340; expect == 4.5e-93; MEOW:ATgn0007560 (36%) |species == Worm; gene == ced-7; score == 295; expect == 1.1e-79; MEOW:CEgn0000158 (30%) |species == rice; score == 228; expect == 9.2e-59; MEOW:gnl|TIGR|8356.m02942 (32%) |species == rice; score == 220; expect == 1.9e-56; MEOW:gnl|TIGR|8357.m01639 (28%) |species == rice; score == 208; expect == 1.0e-53; MEOW:gnl|TIGR|8351.m01020 (34%) |species == rice; score == 202; expect == 4.1e-51; MEOW:gnl|TIGR|8354.m03592 (35%) |species == rice; score == 197; expect == 1.7e-49; MEOW:gnl|TIGR|8356.m02943 (36%) |species == rice; score == 188; expect == 8.0e-47; MEOW:gnl|TIGR|8356.m02939 (35%) |species == ecoli; score == 133; expect == 3.2e-31; MEOW:ref|NP_415315.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0000025 CHR 1 9 DID 1 LocusLink:25 MAP 1 9q34.1 NAM 1 v-abl Abelson murine leukemia viral oncogene homolog 1 ORG 1 Homo sapiens SYM 1 ABL1 ID|HUgn0000025 DID|LocusLink:25 ORG|Homo sapiens RSQ|REFSEQ:NM_005157 |REFSEQ:NM_007313 RPA|REFPROT:NP_005148 |REFPROT:NP_009297 DBA|XM:NM_005157 |XM:NM_007313 |NA:K00009 |NA:M13099 |NA:U07563 |NA:M14752 |NA:M14753 |NA:M30833 |NA:X16416 |NA:none PAC|XP:NP_005148 |XP:NP_009297 SYM|ABL1 NAM|v-abl Abelson murine leukemia viral oncogene homolog 1 SYN|ABL |JTK7 |p150 |c-ABL |v-abl FNC|v-abl Abelson murine leukemia viral oncogene homolog 1 isoform a |v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b |S-specific transcription in mitotic cell cycle ; GO:0000115 |DNA damage response, signal transduction resulting in induction of apoptosis ; GO:0008630 |mismatch repair ; GO:0006298 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |regulation of transcription, DNA-dependent ; GO:0006355 |intracellular signaling cascade ; GO:0007242 |regulation of cell cycle ; GO:0000074 REAB|The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase |that has been implicated in processes of cell differentiation, cell division, cell |adhesion, and stress response. Activity of c-Abl protein is negatively regulated |by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. |The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) |and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding |activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated |phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed |as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced |to the common exons 2-11. CHR|9 PRD|proto-oncogene tyrosine-protein kinase ABL1 |Abelson murine leukemia viral (v-abl) oncogene homolog 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446504 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=25[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119640 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005157 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005157 |http://www.ncbi.nlm.nih.gov/disease/cml.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24413 DBL|UNIGENE:Hs.446504 |OMIM:189980 |SNP:25 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 |transferase activity ; GO:0016740 MAP|9q34.1 PHP|Leukemia, Philadelphia chromosome-positive, resistant to imatinib CEL|nucleus ; GO:0005634 HG|species == rat; score == 1534; expect == 0.0; MEOW:ref|XP_231137.2| (76%) |species == rat; score == 1534; expect == 0.0; MEOW:ref|XP_347218.1| (76%) |species == Human; gene == ABL2; score == 932; expect == 0.0; MEOW:HUgn0000027 (66%) |species == Mosquito; gene == LOC2451; score == 739; expect == 0.0; MEOW:AGgn0002451 (70%) |species == Fruitfly; gene == Abl; score == 733; expect == 0.0; MEOW:FBgn0000017 (74%) |species == Worm; gene == abl-1; score == 565; expect == 6e-161; MEOW:CEgn0000002 (55%) |species == Mouse; gene == Frk; score == 380; expect == 1e-105; MEOW:MGgn0004424 (42%) |species == Mouse; gene == Btk; score == 339; expect == 3.3e-93; MEOW:MGgn0000908 (42%) |species == Mouse; gene == Yes; score == 335; expect == 4.4e-92; MEOW:MGgn0013129 (44%) |species == Mouse; gene == Fyn; score == 333; expect == 2.2e-91; MEOW:MGgn0004482 (43%) |species == Mouse; gene == Fgr; score == 332; expect == 3.7e-91; MEOW:MGgn0004295 (42%) |species == Mouse; gene == Lck; score == 324; expect == 1.3e-88; MEOW:MGgn0007008 (42%) |species == Mouse; gene == Hck; score == 322; expect == 5.0e-88; MEOW:MGgn0005314 (42%) |species == Mouse; gene == Src; score == 322; expect == 5.0e-88; MEOW:MGgn0011237 (42%) |species == Mouse; gene == Lyn; score == 317; expect == 2.1e-86; MEOW:MGgn0007294 (41%) |species == Mouse; gene == Blk; score == 315; expect == 8.0e-86; MEOW:MGgn0000816 (43%) |species == Mouse; gene == Csk; score == 306; expect == 2.0e-83; MEOW:MGgn0001705 (39%) |species == Mouse; gene == Tec; score == 306; expect == 2.4e-83; MEOW:MGgn0012151 (37%) |species == Zfish; gene == itk; score == 284; expect == 1.2e-77; MEOW:ZFgn0000238 (37%) |species == chimp; score == 194; expect == 2.5e-49; MEOW:sp|BAC78172|BAC78172 (37%) |species == Weed; gene == At4g35780; score == 179; expect == 2.9e-45; MEOW:ATgn0017130 (35%) |species == Weed; gene == At2g17700; score == 174; expect == 1.1e-43; MEOW:ATgn0028393 (35%) |species == Weed; gene == At4g38470; score == 168; expect == 8.7e-42; MEOW:ATgn0020261 (36%) |species == Weed; gene == At1g62400; score == 161; expect == 5.6e-40; MEOW:ATgn0006564 (33%) |species == Weed; gene == At5g03730; score == 160; expect == 2.7e-39; MEOW:ATgn0024018 (36%) |species == rice; score == 159; expect == 2.5e-38; MEOW:gnl|TIGR|8357.m03093 (35%) |species == rice; score == 158; expect == 8.4e-39; MEOW:gnl|TIGR|8352.m05524 (33%) |species == Weed; gene == At5g11850; score == 155; expect == 9.5e-38; MEOW:ATgn0025217 (35%) |species == Weed; gene == At3g58640; score == 151; expect == 1.2e-36; MEOW:ATgn0012164 (31%) |species == Weed; gene == At2g31010; score == 147; expect == 5.6e-36; MEOW:ATgn0008444 (31%) |species == rice; score == 144; expect == 6.4e-34; MEOW:gnl|TIGR|8355.m02702 (35%) |species == rice; score == 136; expect == 5.1e-32; MEOW:gnl|TIGR|8351.m03037 (38%) |species == rice; score == 136; expect == 1.3e-31; MEOW:gnl|TIGR|8359.m00564 (32%) |species == rice; score == 136; expect == 9.5e-32; MEOW:gnl|TIGR|8360.m03494 (28%) |species == rice; score == 135; expect == 3.9e-31; MEOW:gnl|TIGR|8351.m04858 (33%) |species == rice; score == 134; expect == 6.6e-31; MEOW:gnl|TIGR|8354.m04232 (28%) } # EOR GENR { RETE|ID 1 HUgn0000026 CHR 1 7 DID 1 LocusLink:26 MAP 1 7q34-q36 NAM 1 amiloride binding protein 1 (amine oxidase (copper-containing)) ORG 1 Homo sapiens SYM 1 ABP1 ID|HUgn0000026 DID|LocusLink:26 ORG|Homo sapiens RSQ|REFSEQ:NM_001091 RPA|REFPROT:NP_001082 DBA|XM:NM_001091 |XM:NM_001091 |NA:X78212 |NA:AK092514 |NA:BC014093 |NA:BX648159 |NA:M55602 |NA:U11862 |NA:U11863 |NA:none PAC|XP:NP_001082 |XP:NP_001082 SYM|ABP1 NAM|amiloride binding protein 1 (amine oxidase (copper-containing)) SYN|DAO |AOC1 FNC|amiloride binding protein 1 precursor |metabolism ; GO:0008152 REAB|This gene encodes a membrane glycoprotein that binds amiloride, a diuretic that acts |by closing epithelial sodium ion channels. Experimental evidence indicates, however, |that the formation of an amiloride sensitive, sodium channel requires complex formation |with additional proteins. Although an association was proposed between this gene |and cystic fibrosis, a disorder involving sodium and water imbalance in the lungs, |genetic evidence showed that it was not involved in producing that disorder. CHR|7 PRD|diamine oxidase |Amiloride-binding protein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437420 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=26[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127105 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001091 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001091 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437420 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00960 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.437420 |OMIM:104610 |SNP:26 ENZ|EC:1.4.3.6 |amine oxidase (copper-containing) activity ; GO:0008122 |copper ion binding ; GO:0005507 |heparin binding ; GO:0008201 |drug binding ; GO:0008144 |oxidoreductase activity ; GO:0016491 MAP|7q34-q36 CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1285; expect == 0.0; MEOW:ref|NP_075224.1| (81%) |species == Mouse; gene == Abp1; score == 1266; expect == 0.0; MEOW:MGgn0016961 (80%) |species == Human; gene == AOC3; score == 530; expect == 2e-150; MEOW:HUgn0008639 (39%) |species == Human; gene == AOC2; score == 506; expect == 2e-143; MEOW:HUgn0000314 (40%) |species == ecoli; score == 142; expect == 6.1e-35; MEOW:ref|NP_415904.1| (28%) |species == Weed; gene == At1g31670; score == 141; expect == 1.5e-33; MEOW:ATgn0000598 (27%) |species == Weed; gene == At4g14940; score == 141; expect == 1.7e-33; MEOW:ATgn0019564 (28%) |species == Weed; gene == At1g31710; score == 138; expect == 1.0e-32; MEOW:ATgn0000604 (28%) |species == Weed; gene == At4g12290; score == 137; expect == 2.1e-32; MEOW:ATgn0020358 (28%) |species == Weed; gene == At1g31690; score == 134; expect == 1.2e-31; MEOW:ATgn0000602 (27%) } # EOR GENR { RETE|ID 1 HUgn0000027 CHR 1 1 DID 1 LocusLink:27 MAP 1 1q24-q25 NAM 1 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) ORG 1 Homo sapiens SYM 1 ABL2 ID|HUgn0000027 DID|LocusLink:27 ORG|Homo sapiens RSQ|REFSEQ:NM_005158 |REFSEQ:NM_007314 RPA|REFPROT:NP_005149 |REFPROT:NP_009298 DBA|XM:NM_005158 |XM:NM_007314 |NA:BX538317 |NA:M35296 |NA:none PAC|XP:NP_005149 |XP:NP_009298 SYM|ABL2 NAM|v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) SYN|ARG |ABLL FNC|v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a |v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 REAB|ABL2 is a cytoplasmic tyrosine kinase which is closely related to but distinct from |ABL1. The similarity of the proteins includes the tyrosine kinase domains and extends |amino-terminal to include the SH2 and SH3 domains. ABL2 is expressed in both normal |and tumor cells. The ABL2 gene product is expressed as two variants bearing different |amino termini, both approximately 12-kb in length. CHR|1 PRD|Abelson-related gene |Abelson murine leukemia viral (v-abl) oncogene homolog 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159472 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=27[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119641 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007314 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007314 DBL|UNIGENE:Hs.159472 |OMIM:164690 |SNP:27 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|1q24-q25 PHP|Leukemia, acute myeloid, with eosinophilia CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ABL1; score == 932; expect == 0.0; MEOW:HUgn0000025 (66%) |species == rat; score == 812; expect == 0.0; MEOW:ref|XP_231137.2| (45%) |species == rat; score == 812; expect == 0.0; MEOW:ref|XP_347218.1| (45%) |species == Mosquito; gene == LOC2451; score == 714; expect == 0.0; MEOW:AGgn0002451 (67%) |species == Fruitfly; gene == Abl; score == 705; expect == 0.0; MEOW:FBgn0000017 (72%) |species == Worm; gene == abl-1; score == 559; expect == 3e-159; MEOW:CEgn0000002 (59%) |species == Mouse; gene == Fyn; score == 367; expect == 1e-101; MEOW:MGgn0004482 (43%) |species == Mouse; gene == Fgr; score == 361; expect == 5e-100; MEOW:MGgn0004295 (41%) |species == Mouse; gene == Frk; score == 357; expect == 1.4e-98; MEOW:MGgn0004424 (44%) |species == Mouse; gene == Blk; score == 352; expect == 3.6e-97; MEOW:MGgn0000816 (43%) |species == Mouse; gene == Yes; score == 349; expect == 3.0e-96; MEOW:MGgn0013129 (44%) |species == Mouse; gene == Src; score == 337; expect == 1.2e-92; MEOW:MGgn0011237 (42%) |species == Mouse; gene == Btk; score == 334; expect == 1.4e-91; MEOW:MGgn0000908 (42%) |species == Mouse; gene == Lck; score == 333; expect == 2.2e-91; MEOW:MGgn0007008 (43%) |species == Mouse; gene == Hck; score == 332; expect == 3.8e-91; MEOW:MGgn0005314 (44%) |species == Mouse; gene == Lyn; score == 326; expect == 3.5e-89; MEOW:MGgn0007294 (41%) |species == Mouse; gene == Csk; score == 318; expect == 3.0e-87; MEOW:MGgn0001705 (40%) |species == Mouse; gene == Itk; score == 309; expect == 3.5e-84; MEOW:MGgn0006607 (37%) |species == Mouse; gene == Tec; score == 302; expect == 3.5e-82; MEOW:MGgn0012151 (39%) |species == Zfish; gene == itk; score == 288; expect == 8.1e-79; MEOW:ZFgn0000238 (39%) |species == chimp; score == 177; expect == 6.9e-46; MEOW:sp|BAC78172|BAC78172 (38%) |species == Weed; gene == At4g35780; score == 175; expect == 7.0e-44; MEOW:ATgn0017130 (34%) |species == rice; score == 175; expect == 7.5e-44; MEOW:gnl|TIGR|8357.m03093 (36%) |species == Weed; gene == At4g38470; score == 172; expect == 3.5e-43; MEOW:ATgn0020261 (37%) |species == Weed; gene == At5g03730; score == 162; expect == 5.5e-40; MEOW:ATgn0024018 (38%) |species == rice; score == 162; expect == 3.4e-40; MEOW:gnl|TIGR|8352.m05524 (35%) |species == Weed; gene == At1g62400; score == 155; expect == 3.1e-38; MEOW:ATgn0006564 (31%) |species == Weed; gene == At2g17700; score == 154; expect == 2.8e-37; MEOW:ATgn0028393 (34%) |species == rice; score == 151; expect == 1.2e-36; MEOW:gnl|TIGR|8359.m00564 (30%) |species == Weed; gene == At3g58640; score == 149; expect == 4.7e-36; MEOW:ATgn0012164 (32%) |species == rice; score == 142; expect == 5.6e-34; MEOW:gnl|TIGR|8352.m04835 (35%) } # EOR GENR { RETE|ID 1 HUgn0000028 CHR 1 9 DID 1 LocusLink:28 MAP 1 9q34.1-q34.2 NAM 1 ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) ORG 1 Homo sapiens SYM 1 ABO ID|HUgn0000028 DID|LocusLink:28 ORG|Homo sapiens RSQ|REFSEQ:NM_020469 RPA|REFPROT:NP_065202 DBA|XM:NM_020469 |NA:AC000397 |NA:AF134420 |NA:AF134422 |NA:AF170888 |NA:U22302 |NA:X84746 |NA:AF134412 |NA:AF134413 |NA:AF134414 |NA:AF134415 |NA:AF134416 |NA:J05175 |NA:U15197 |NA:none PAC|XP:NP_065202 SYM|ABO NAM|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) FNC|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) CHR|9 PRD|GTB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113271 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=28[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118956 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020469 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020469 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.bioc.aecom.yu.edu/bgmut/abo.htm DBL|UNIGENE:Hs.113271 |OMIM:110300 |SNP:28 ENZ|EC:2.4.1.37 |EC:2.4.1.40 MAP|9q34.1-q34.2 PHP|Blood group, ABO system HG|species == chimp; score == 666; expect == 0.0; MEOW:sp|Q9TUD9|Q9TUD9 (97%) |species == chimp; score == 624; expect == 0.0; MEOW:sp|Q9TTN2|Q9TTN2 (98%) |species == chimp; score == 588; expect == 1e-168; MEOW:sp|O97551|O97551 (96%) |species == chimp; score == 558; expect == 1e-159; MEOW:sp|O97549|O97549 (98%) |species == rat; score == 496; expect == 1e-140; MEOW:ref|XP_231041.2| (74%) |species == rat; score == 484; expect == 4e-137; MEOW:ref|XP_215986.1| (80%) |species == rat; score == 483; expect == 6e-137; MEOW:ref|XP_342395.1| (79%) |species == Mouse; gene == Abo; score == 450; expect == 3e-127; MEOW:MGgn0028359 (70%) |species == Human; gene == FS; score == 284; expect == 4.4e-77; MEOW:HUgn0026301 (49%) |species == Human; gene == LOC342885; score == 228; expect == 2.5e-60; MEOW:HUgn0342885 (59%) } # EOR GENR { RETE|ID 1 HUgn0000029 CHR 1 17 DID 1 LocusLink:29 MAP 1 17p13.3 NAM 1 active BCR-related gene ORG 1 Homo sapiens SYM 1 ABR ID|HUgn0000029 DID|LocusLink:29 ORG|Homo sapiens RSQ|REFSEQ:NM_001092 |REFSEQ:NM_021962 RPA|REFPROT:NP_001083 |REFPROT:NP_068781 DBA|XM:NM_001092 |XM:NM_021962 |NA:L19704 |NA:L19705 |NA:AK124547 |NA:AK126882 |NA:BC036807 |NA:U01147 |NA:none PAC|XP:NP_001083 |XP:NP_068781 SYM|ABR NAM|active BCR-related gene SYN|MDB FNC|active breakpoint cluster region-related protein isoform a |active breakpoint cluster region-related protein isoform b |small GTPase mediated signal transduction ; GO:0007264 REAB|Active breakpoint cluster region-related gene has homology with the breakpoint cluster |region gene located on chromosome 22. BCR is involved in reciprocal translocations |with the ABL oncogene on chromosome 9 in Philadelphia chromosome-positive chronic |myelogenous leukemia. These proteins might interact simultaneously and/or sequentially |with members of the Rho family to regulate and coordinate cellular signaling. Active |breakpoint cluster region-related protein may be associated with medulloblastoma. |This gene has two different alternatively spliced transcript variants. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434004 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=29[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119642 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021962 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021962 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434004 DBL|UNIGENE:Hs.434004 |OMIM:600365 |SNP:29 MAP|17p13.3 ENZ|GTPase activator activity ; GO:0005096 |guanyl-nucleotide exchange factor activity ; GO:0005085 HG|species == rat; score == 1553; expect == 0.0; MEOW:ref|XP_220717.2| (96%) |species == Human; gene == BCR; score == 1102; expect == 0.0; MEOW:HUgn0000613 (69%) |species == Mosquito; score == 310; expect == 1.2e-84; MEOW:AGgn0017783 (36%) |species == Fruitfly; gene == RhoGAP1A; score == 269; expect == 2.4e-72; MEOW:FBgn0025836 (35%) } # EOR GENR { RETE|ID 1 HUgn0000030 CHR 1 3 DID 1 LocusLink:30 MAP 1 3p23-p22 NAM 1 acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAA1 ID|HUgn0000030 DID|LocusLink:30 ORG|Homo sapiens RSQ|REFSEQ:NM_001607 RPA|REFPROT:NP_001598 DBA|XM:NM_001607 |NA:X65140 |NA:X65148 |NA:AF035295 |NA:AK025138 |NA:AK127051 |NA:BC000635 |NA:BC011977 |NA:BC014474 |NA:BC025780 |NA:BC039837 |NA:X12966 |NA:X14813 |NA:X51460 |NA:none PAC|XP:NP_001598 SYM|ACAA1 NAM|acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) SYN|ACAA |THIO |PTHIO FNC|acetyl-Coenzyme A acyltransferase 1 |energy pathways ; GO:0006091 REAB|Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation |system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger |syndrome CHR|3 PRD|peroxisomal 3-oxoacyl-Coenzyme A thiolase |Acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A |acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A thiolase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166160 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=30[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119643 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001607 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001607 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=166160 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=30 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00362 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24419 DBL|UNIGENE:Hs.166160 |OMIM:604054 |SNP:30 ENZ|EC:2.3.1.16 MAP|3p23-p22 PHP|Pseudo-Zellweger syndrome CEL|peroxisome ; GO:0005777 HG|species == rat; score == 699; expect == 0.0; MEOW:ref|NP_036621.1| (86%) |species == Mouse; gene == Acaa1; score == 696; expect == 0.0; MEOW:MGgn0030069 (85%) |species == rat; score == 694; expect == 0.0; MEOW:ref|XP_345998.1| (86%) |species == Weed; gene == At1g04710; score == 448; expect == 3e-126; MEOW:ATgn0005541 (56%) |species == rice; score == 442; expect == 4e-124; MEOW:gnl|TIGR|8351.m05505 (56%) |species == Weed; gene == At2g33150; score == 434; expect == 3e-122; MEOW:ATgn0010340 (55%) |species == rice; score == 433; expect == 2e-121; MEOW:gnl|TIGR|8362.m02423 (56%) |species == Weed; gene == At5g48880; score == 431; expect == 3e-121; MEOW:ATgn0022657 (58%) |species == Yeast; gene == POT1; score == 362; expect == 3e-100; MEOW:SGgn0001422 (51%) |species == ecoli; score == 247; expect == 9.3e-66; MEOW:ref|NP_417321.1| (37%) |species == Human; gene == ACAT2; score == 245; expect == 4.6e-65; MEOW:HUgn0000039 (41%) |species == ecoli; score == 245; expect == 4.6e-66; MEOW:ref|NP_418287.1| (42%) |species == Zfish; gene == acat2; score == 243; expect == 1.8e-64; MEOW:ZFgn0000284 (40%) |species == ecoli; score == 243; expect == 1.7e-65; MEOW:ref|NP_416728.1| (41%) |species == ecoli; score == 240; expect == 8.8e-64; MEOW:ref|NP_415915.1| (40%) |species == Mosquito; gene == LOC20372; score == 233; expect == 1.4e-61; MEOW:AGgn0020372 (38%) |species == Mosquito; gene == LOC13285; score == 229; expect == 1.6e-60; MEOW:AGgn0013285 (40%) |species == Worm; gene == F53A2.7; score == 224; expect == 4.9e-59; MEOW:CEgn0011549 (39%) |species == Human; gene == ACAA2; score == 219; expect == 3.0e-57; MEOW:HUgn0010449 (38%) |species == Mosquito; gene == LOC14645; score == 200; expect == 6.1e-52; MEOW:AGgn0014645 (43%) |species == Human; gene == HADHB; score == 197; expect == 1.1e-50; MEOW:HUgn0003032 (33%) |species == Fruitfly; gene == CG10932; score == 172; expect == 4.0e-43; MEOW:FBgn0029969 (32%) |species == Fruitfly; gene == Thiolase; score == 169; expect == 3.1e-42; MEOW:FBgn0025352 (32%) } # EOR GENR { RETE|ID 1 HUgn0000031 CHR 1 17 DID 1 LocusLink:31 MAP 1 17q21 NAM 1 acetyl-Coenzyme A carboxylase alpha ORG 1 Homo sapiens SYM 1 ACACA ID|HUgn0000031 DID|LocusLink:31 ORG|Homo sapiens RSQ|REFSEQ:NM_000664 RPA|REFPROT:NP_000655 DBA|XM:NM_000664 |NA:AY315616 |NA:AY315617 |NA:AY315618 |NA:AK129523 |NA:AY315619 |NA:AY315620 |NA:AY315621 |NA:AY315622 |NA:AY315623 |NA:AY315624 |NA:AY315625 |NA:AY315626 |NA:AY315627 |NA:BC031485 |NA:BC041598 |NA:BF154865 |NA:U19822 |NA:none PAC|XP:NP_000655 SYM|ACACA NAM|acetyl-Coenzyme A carboxylase alpha SYN|ACC |ACAC |ACC1 |ACCA FNC|acetyl-Coenzyme A carboxylase alpha |metabolism ; GO:0008152 |fatty acid biosynthesis ; GO:0006633 REAB|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is |a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, |the rate-limiting step in fatty acid synthesis. ACC-alpha is highly enriched in |lipogenic tissues and is under long term control at the transcriptional and translational |levels and under short term regulation by the phosphorylation/dephosphorylation |of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. CHR|17 DBL|OMIM:200350 |SNP:31 ENZ|EC:6.4.1.2 |biotin carboxylase activity ; GO:0004075 |biotin binding ; GO:0009374 |acetyl-CoA carboxylase activity ; GO:0003989 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|17q21 PHP|Acetyl-CoA carboxylase deficiency URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=31[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120534 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000664 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000664 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00253 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00061 CEL|biotin carboxylase complex ; GO:0009343 HG|species == rat; score == 4518; expect == 0.0; MEOW:ref|NP_071529.1| (97%) |species == Human; gene == ACACB; score == 3361; expect == 0.0; MEOW:HUgn0000032 (72%) |species == Mosquito; gene == LOC15662; score == 2808; expect == 0.0; MEOW:AGgn0015662 (61%) |species == Fruitfly; gene == CG11198; score == 2773; expect == 0.0; MEOW:FBgn0033246 (61%) |species == Yeast; gene == ACC1; score == 1788; expect == 0.0; MEOW:SGgn0005299 (44%) |species == Yeast; gene == HFA1; score == 1614; expect == 0.0; MEOW:SGgn0004820 (42%) |species == rice; score == 1516; expect == 0.0; MEOW:gnl|TIGR|8362.m01633 (39%) |species == Weed; gene == At1g36160; score == 1476; expect == 0.0; MEOW:ATgn0006015 (38%) |species == rice; score == 1450; expect == 0.0; MEOW:gnl|TIGR|8353.m01895 (37%) |species == Worm; gene == W09B6.1; score == 604; expect == 2e-172; MEOW:CEgn0017778 (43%) |species == Worm; gene == T28F3.5; score == 530; expect == 4e-150; MEOW:CEgn0017221 (41%) |species == Mouse; gene == Pcca; score == 237; expect == 2.0e-62; MEOW:MGgn0008812 (28%) |species == ecoli; score == 237; expect == 6.0e-63; MEOW:ref|NP_417722.1| (31%) |species == Mouse; gene == Mccc1; score == 234; expect == 3.0e-61; MEOW:MGgn0018765 (31%) |species == Mouse; gene == Pcx; score == 222; expect == 1.5e-57; MEOW:MGgn0008853 (30%) |species == Zfish; gene == pc; score == 208; expect == 1.3e-54; MEOW:ZFgn0000870 (28%) } # EOR GENR { RETE|ID 1 HUgn0000032 CHR 1 12 DID 1 LocusLink:32 MAP 1 12q24.1 NAM 1 acetyl-Coenzyme A carboxylase beta ORG 1 Homo sapiens SYM 1 ACACB ID|HUgn0000032 DID|LocusLink:32 ORG|Homo sapiens RSQ|REFSEQ:NM_001093 RPA|REFPROT:NP_001084 DBA|XM:NM_001093 |NA:U34591 |NA:U89344 |NA:none PAC|XP:NP_001084 SYM|ACACB NAM|acetyl-Coenzyme A carboxylase beta SYN|ACC2 |ACCB |HACC275 FNC|acetyl-Coenzyme A carboxylase beta |metabolism ; GO:0008152 |fatty acid biosynthesis ; GO:0006633 REAB|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a |biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, |the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control |fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA |transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. | ACC-beta may be involved in the regulation of fatty acid oxidation, rather than |fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. CHR|12 DBL|OMIM:601557 |SNP:32 ENZ|EC:6.4.1.2 |EC:6.3.4.14 |biotin carboxylase activity ; GO:0004075 |biotin binding ; GO:0009374 |acetyl-CoA carboxylase activity ; GO:0003989 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|12q24.1 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=32[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5200247 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001093 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001093 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00253 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00061 CEL|biotin carboxylase complex ; GO:0009343 HG|species == rat; score == 3395; expect == 0.0; MEOW:ref|NP_071529.1| (73%) |species == Human; gene == ACACA; score == 3361; expect == 0.0; MEOW:HUgn0000031 (72%) |species == rat; score == 3285; expect == 0.0; MEOW:ref|XP_346442.1| (85%) |species == Mosquito; gene == LOC15662; score == 2682; expect == 0.0; MEOW:AGgn0015662 (58%) |species == Fruitfly; gene == CG11198; score == 2656; expect == 0.0; MEOW:FBgn0033246 (59%) |species == Yeast; gene == ACC1; score == 1744; expect == 0.0; MEOW:SGgn0005299 (45%) |species == Yeast; gene == HFA1; score == 1552; expect == 0.0; MEOW:SGgn0004820 (41%) |species == rice; score == 1435; expect == 0.0; MEOW:gnl|TIGR|8362.m01633 (38%) |species == Weed; gene == At1g36160; score == 1401; expect == 0.0; MEOW:ATgn0006015 (38%) |species == rice; score == 1385; expect == 0.0; MEOW:gnl|TIGR|8353.m01895 (37%) |species == Worm; gene == W09B6.1; score == 578; expect == 1e-164; MEOW:CEgn0017778 (44%) |species == Worm; gene == T28F3.5; score == 502; expect == 6e-142; MEOW:CEgn0017221 (39%) |species == Mouse; gene == Pcca; score == 217; expect == 2.1e-56; MEOW:MGgn0008812 (26%) |species == Mouse; gene == Mccc1; score == 211; expect == 2.8e-54; MEOW:MGgn0018765 (27%) |species == ecoli; score == 209; expect == 1.9e-54; MEOW:ref|NP_417722.1| (30%) |species == Mouse; gene == Pcx; score == 196; expect == 1.2e-49; MEOW:MGgn0008853 (29%) |species == Zfish; gene == pc; score == 188; expect == 1.9e-48; MEOW:ZFgn0000870 (29%) } # EOR GENR { RETE|ID 1 HUgn0000033 CHR 1 2 DID 1 LocusLink:33 MAP 1 2q34-q35 NAM 1 acyl-Coenzyme A dehydrogenase, long chain ORG 1 Homo sapiens SYM 1 ACADL ID|HUgn0000033 DID|LocusLink:33 ORG|Homo sapiens RSQ|REFSEQ:NM_001608 RPA|REFPROT:NP_001599 DBA|XM:NM_001608 |NA:BC039063 |NA:M74096 |NA:none PAC|XP:NP_001599 SYM|ACADL NAM|acyl-Coenzyme A dehydrogenase, long chain SYN|LCAD |ACAD4 FNC|acyl-Coenzyme A dehydrogenase, long chain precursor REAB|Long-chain acyl-coA dehydrogenase (ACADL), also abbreviated as LCAD, is a mitochondrial |metrix enzyme involved in catalyzing the first reaction in the mitochondrial beta-oxidation |cycles for fatty acids. Two other acyl-coA dehydrogenases are also involved in |fatty acid oxidation, medium chain and short chain ALDs. However, of these ACADL |catalyzes the first and critical step in this process. ACADL is a homotetrameic |enzyme of 45-kDa. It is synthesized in the cytoplasm a a precursor then processed |and targeted to the mitochondria. Genetic deficiency of ACADL is associated with |severe hypoglycemia, skeletal muscle weakness, hepatomegaly and cardiomegaly, which |can be fatal. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430108 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=33[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118745 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001608 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001608 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=430108 |http://www.geneclinics.org/query?mim=201460 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.430108 |OMIM:201460 |SNP:33 ENZ|EC:1.3.99.13 MAP|2q34-q35 PHP|Acyl-CoA dehydrogenase, long chain, deficiency of HG|species == Mouse; gene == Acadl; score == 748; expect == 0.0; MEOW:MGgn0000037 (86%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_036951.1| (87%) |species == Human; gene == IVD; score == 240; expect == 1.2e-63; MEOW:HUgn0003712 (34%) |species == Fruitfly; gene == CG6638; score == 224; expect == 4.2e-59; MEOW:FBgn0035911 (33%) |species == Human; gene == ACADSB; score == 216; expect == 2.0e-56; MEOW:HUgn0000036 (33%) |species == Weed; gene == At3g45300; score == 214; expect == 5.7e-56; MEOW:ATgn0012521 (32%) |species == Mosquito; gene == LOC19082; score == 212; expect == 1.6e-55; MEOW:AGgn0019082 (32%) |species == Fruitfly; gene == CG12262; score == 212; expect == 1.7e-55; MEOW:FBgn0035811 (33%) |species == Worm; gene == C02B10.1; score == 211; expect == 5.6e-55; MEOW:CEgn0003792 (32%) |species == Worm; gene == T25G12.5; score == 211; expect == 3.3e-55; MEOW:CEgn0016968 (35%) |species == rice; score == 211; expect == 1.8e-54; MEOW:gnl|TIGR|8353.m00250 (31%) |species == Human; gene == ACADM; score == 210; expect == 1.0e-54; MEOW:HUgn0000034 (32%) |species == Human; gene == ACADS; score == 210; expect == 1.1e-54; MEOW:HUgn0000035 (32%) |species == Worm; gene == C37A2.3; score == 207; expect == 8.2e-54; MEOW:CEgn0006152 (32%) |species == Mosquito; gene == LOC21837; score == 205; expect == 1.9e-53; MEOW:AGgn0021837 (33%) |species == Worm; gene == C55B7.4a; score == 205; expect == 3.1e-53; MEOW:CEgn0031838 (33%) |species == Fruitfly; gene == Arc42; score == 205; expect == 2.0e-53; MEOW:FBgn0038742 (32%) |species == Human; gene == ACAD8; score == 199; expect == 1.8e-51; MEOW:HUgn0027034 (32%) |species == Fruitfly; gene == CG3902; score == 198; expect == 3.2e-51; MEOW:FBgn0036824 (31%) |species == Mosquito; gene == LOC15771; score == 197; expect == 5.3e-51; MEOW:AGgn0015771 (31%) |species == Worm; gene == F28A10.6; score == 196; expect == 1.9e-50; MEOW:CEgn0009492 (32%) |species == Worm; gene == C02D5.1; score == 195; expect == 3.2e-50; MEOW:CEgn0003809 (31%) |species == Worm; gene == K06A5.6; score == 195; expect == 3.2e-50; MEOW:CEgn0013313 (30%) |species == Worm; gene == T08G2.3; score == 195; expect == 3.2e-50; MEOW:CEgn0015823 (31%) |species == Worm; gene == K05F1.3; score == 194; expect == 4.2e-50; MEOW:CEgn0013276 (31%) |species == Mosquito; score == 184; expect == 4.6e-47; MEOW:AGgn0000447 (30%) |species == Mosquito; gene == LOC13168; score == 184; expect == 3.5e-47; MEOW:AGgn0013168 (32%) |species == Mosquito; score == 181; expect == 3.0e-46; MEOW:AGgn0020214 (40%) |species == Worm; gene == T10E9.9; score == 171; expect == 3.7e-43; MEOW:CEgn0015993 (32%) |species == ecoli; score == 155; expect == 4.9e-38; MEOW:ref|NP_416210.1| (29%) |species == ecoli; score == 133; expect == 1.9e-31; MEOW:ref|NP_414581.1| (25%) } # EOR GENR { RETE|ID 1 HUgn0000034 CHR 1 1 DID 1 LocusLink:34 MAP 1 1p31 NAM 1 acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ORG 1 Homo sapiens SYM 1 ACADM ID|HUgn0000034 DID|LocusLink:34 ORG|Homo sapiens RSQ|REFSEQ:NM_000016 RPA|REFPROT:NP_000007 DBA|XM:NM_000016 |NA:M60505 |NA:M91432 |NA:U33947 |NA:AF251043 |NA:BC005377 |NA:BX647734 |NA:M16827 |NA:none PAC|XP:NP_000007 SYM|ACADM NAM|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain SYN|MCAD |ACAD1 |MCADH FNC|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme |A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial |fatty acid beta-oxidation pathway. Clinical phenotypes are associated with ACADM |hereditary deficiency. CHR|1 PRD|medium-chain acyl-CoA dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=254593 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=34[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118958 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000016 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000016 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=254593 |http://www.geneclinics.org/query?mim=201450 |http://www.geneclinics.org/query?mim=607008 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.254593 |OMIM:607008 |SNP:34 |UWCM:118958.html ENZ|EC:1.3.99.3 |acyl-CoA dehydrogenase activity ; GO:0003995 |oxidoreductase activity ; GO:0016491 MAP|1p31 PHP|Acyl-CoA dehydrogenase, medium chain, deficiency of CEL|mitochondrial matrix ; GO:0005759 HG|species == Mouse; gene == Acadm; score == 765; expect == 0.0; MEOW:MGgn0000038 (87%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_058682.1| (86%) |species == Fruitfly; gene == CG12262; score == 587; expect == 2e-168; MEOW:FBgn0035811 (69%) |species == Mosquito; gene == LOC21837; score == 574; expect == 2e-164; MEOW:AGgn0021837 (70%) |species == Worm; gene == T08G2.3; score == 495; expect == 1e-140; MEOW:CEgn0015823 (64%) |species == Worm; gene == T25G12.5; score == 495; expect == 1e-140; MEOW:CEgn0016968 (63%) |species == Worm; gene == K05F1.3; score == 480; expect == 4e-136; MEOW:CEgn0013276 (61%) |species == Human; gene == ACADS; score == 264; expect == 6.1e-71; MEOW:HUgn0000035 (37%) |species == Human; gene == ACADSB; score == 245; expect == 3.8e-65; MEOW:HUgn0000036 (37%) |species == Human; gene == ACAD8; score == 236; expect == 2.3e-62; MEOW:HUgn0027034 (33%) |species == Weed; gene == At3g45300; score == 228; expect == 6.4e-60; MEOW:ATgn0012521 (35%) |species == Human; gene == IVD; score == 228; expect == 3.7e-60; MEOW:HUgn0003712 (34%) |species == rice; score == 226; expect == 5.3e-59; MEOW:gnl|TIGR|8353.m00250 (36%) |species == ecoli; score == 157; expect == 1.2e-38; MEOW:ref|NP_414581.1| (28%) |species == ecoli; score == 156; expect == 1.7e-38; MEOW:ref|NP_416210.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000035 CHR 1 12 DID 1 LocusLink:35 MAP 1 12q22-qter NAM 1 acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ORG 1 Homo sapiens SYM 1 ACADS ID|HUgn0000035 DID|LocusLink:35 ORG|Homo sapiens RSQ|REFSEQ:NM_000017 RPA|REFPROT:NP_000008 DBA|XM:NM_000017 |NA:Z80345 |NA:Z80347 |NA:BC025963 |NA:M26393 |NA:none PAC|XP:NP_000008 SYM|ACADS NAM|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain SYN|SCAD |ACAD3 FNC|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain precursor |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|The nuclear ACADS gene encodes a mitochondrially-targeted protein product. Acyl-Coenzyme |A dehydrogenase, short-chain specific, catalyzes the initial step of the mitochondrial |fatty acid beta-oxidation pathway. Clinical phenotypes, described elsewhere, are |associated with ACADS hereditary deficiency. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348900 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=35[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118959 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000017 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000017 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=348900 |http://www.geneclinics.org/query?mim=201470 |http://www.geneclinics.org/query?mim=606885 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.348900 |OMIM:606885 |SNP:35 |UWCM:118959.html ENZ|EC:1.3.99.2 |butyryl-CoA dehydrogenase activity ; GO:0004085 |oxidoreductase activity ; GO:0016491 MAP|12q22-qter PHP|Acyl-CoA dehydrogenase, short-chain, deficiency of CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 683; expect == 0.0; MEOW:ref|NP_071957.1| (91%) |species == Mouse; gene == Acads; score == 680; expect == 0.0; MEOW:MGgn0000041 (91%) |species == Mosquito; gene == LOC19082; score == 548; expect == 2e-156; MEOW:AGgn0019082 (74%) |species == Fruitfly; gene == Arc42; score == 528; expect == 1e-150; MEOW:FBgn0038742 (73%) |species == Human; gene == ACADSB; score == 287; expect == 1.2e-77; MEOW:HUgn0000036 (41%) |species == Worm; gene == K06A5.6; score == 286; expect == 1.5e-77; MEOW:CEgn0013313 (41%) |species == Worm; gene == C55B7.4a; score == 282; expect == 3.8e-76; MEOW:CEgn0031838 (40%) |species == Worm; gene == C02B10.1; score == 270; expect == 8.4e-73; MEOW:CEgn0003792 (38%) |species == Worm; gene == T08G2.3; score == 265; expect == 4.6e-71; MEOW:CEgn0015823 (39%) |species == Human; gene == ACADM; score == 264; expect == 6.1e-71; MEOW:HUgn0000034 (37%) |species == Worm; gene == T25G12.5; score == 263; expect == 1.0e-70; MEOW:CEgn0016968 (39%) |species == Worm; gene == K05F1.3; score == 261; expect == 3.8e-70; MEOW:CEgn0013276 (39%) |species == Human; gene == IVD; score == 258; expect == 5.7e-69; MEOW:HUgn0003712 (38%) |species == rice; score == 252; expect == 5.1e-67; MEOW:gnl|TIGR|8353.m00250 (37%) |species == Human; gene == ACAD8; score == 250; expect == 8.9e-67; MEOW:HUgn0027034 (37%) |species == Weed; gene == At3g45300; score == 244; expect == 8.2e-65; MEOW:ATgn0012521 (38%) |species == Worm; gene == F28A10.6; score == 235; expect == 5.0e-62; MEOW:CEgn0009492 (37%) |species == Worm; gene == T10E9.9; score == 235; expect == 3.6e-62; MEOW:CEgn0015993 (43%) |species == ecoli; score == 175; expect == 3.5e-44; MEOW:ref|NP_416210.1| (30%) |species == ecoli; score == 163; expect == 1.7e-40; MEOW:ref|NP_414581.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000036 CHR 1 10 DID 1 LocusLink:36 MAP 1 10q25-q26 NAM 1 acyl-Coenzyme A dehydrogenase, short/branched chain ORG 1 Homo sapiens SYM 1 ACADSB ID|HUgn0000036 DID|LocusLink:36 ORG|Homo sapiens RSQ|REFSEQ:NM_001609 RPA|REFPROT:NP_001600 DBA|XM:NM_001609 |NA:AL831821 |NA:BC013756 |NA:BC020931 |NA:BC032395 |NA:BC045723 |NA:BE875638 |NA:U12778 |NA:none PAC|XP:NP_001600 SYM|ACADSB NAM|acyl-Coenzyme A dehydrogenase, short/branched chain SYN|ACAD7 |SBCAD |2-MEBCAD FNC|acyl-Coenzyme A dehydrogenase, short/branched chain precursor |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase |family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the |metabolism of fatty acids or branch chained amino acids. Substrate specificity is |the primary characteristic used to define members of this gene family. The ACADSB |gene product has the greatest activity towards the short branched chain acyl-CoA |derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl |branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes |for a mitochondrial precursor protein which is cleaved upon mitochondrial import |and predicted to yield a mature peptide of approximately 43.7-KDa. CHR|10 PRD|2-methylbutyryl-CoA dehydrogenase |2-methyl branched chain acyl-CoA dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81934 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=36[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:388699 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001609 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001609 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81934 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.81934 |OMIM:600301 |SNP:36 MAP|10q25-q26 ENZ|acyl-CoA dehydrogenase activity ; GO:0003995 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 726; expect == 0.0; MEOW:ref|NP_037216.1| (84%) |species == Mouse; gene == Acadsb; score == 719; expect == 0.0; MEOW:MGgn0016625 (83%) |species == Fruitfly; gene == CG3902; score == 497; expect == 3e-141; MEOW:FBgn0036824 (62%) |species == Worm; gene == K06A5.6; score == 489; expect == 1e-138; MEOW:CEgn0013313 (61%) |species == Mosquito; gene == LOC15771; score == 485; expect == 2e-137; MEOW:AGgn0015771 (60%) |species == Worm; gene == C55B7.4a; score == 454; expect == 4e-128; MEOW:CEgn0031838 (56%) |species == Human; gene == ACADS; score == 287; expect == 1.2e-77; MEOW:HUgn0000035 (41%) |species == Human; gene == ACADM; score == 245; expect == 3.8e-65; MEOW:HUgn0000034 (37%) |species == Human; gene == IVD; score == 244; expect == 8.6e-65; MEOW:HUgn0003712 (33%) |species == Weed; gene == At3g45300; score == 240; expect == 1.7e-63; MEOW:ATgn0012521 (37%) |species == rice; score == 233; expect == 3.4e-61; MEOW:gnl|TIGR|8353.m00250 (34%) |species == ecoli; score == 162; expect == 2.2e-40; MEOW:ref|NP_414581.1| (26%) |species == ecoli; score == 142; expect == 3.3e-34; MEOW:ref|NP_416210.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000037 CHR 1 17 DID 1 LocusLink:37 MAP 1 17p13-p11 NAM 1 acyl-Coenzyme A dehydrogenase, very long chain ORG 1 Homo sapiens SYM 1 ACADVL ID|HUgn0000037 DID|LocusLink:37 ORG|Homo sapiens RSQ|REFSEQ:NM_000018 RPA|REFPROT:NP_000009 DBA|XM:NM_000018 |NA:AF244932 |NA:AJ012053 |NA:D78298 |NA:L46590 |NA:AK056083 |NA:AK056956 |NA:AK058109 |NA:AK097243 |NA:BC000399 |NA:BC012912 |NA:BC020218 |NA:D43682 |NA:X86556 |NA:none PAC|XP:NP_000009 SYM|ACADVL NAM|acyl-Coenzyme A dehydrogenase, very long chain SYN|ACAD6 |LCACD |VLCAD FNC|acyl-Coenzyme A dehydrogenase, very long chain precursor |fatty acid beta-oxidation ; GO:0006635 |energy derivation by oxidation of organic compounds ; GO:0015980 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 REAB|The ACADVL gene product is targetted to the inner mitochondrial membrane where it |catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. | This acyl-Coenzyme A dehydrogenase is specific to long-chain and very long-chain |fatty acids. ACADVL deficiency reduces myocardial fatty acid beta-oxidation and |is associated with cardiomyopathy. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437178 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=37[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1248185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000018 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000018 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437178 |http://www.geneclinics.org/query?mim=201475 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00900 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 DBL|UNIGENE:Hs.437178 |OMIM:201475 |SNP:37 |UWCM:1248185.html MAP|17p13-p11 PHP|VLCAD deficiency ENZ|long-chain-acyl-CoA dehydrogenase activity ; GO:0004466 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 1056; expect == 0.0; MEOW:ref|NP_037023.1| (85%) |species == Mouse; gene == Acadvl; score == 1044; expect == 0.0; MEOW:MGgn0000042 (84%) |species == Fruitfly; gene == CG7461; score == 660; expect == 0.0; MEOW:FBgn0034432 (57%) |species == Mosquito; score == 617; expect == 5e-177; MEOW:AGgn0012480 (60%) |species == Mosquito; score == 558; expect == 2e-159; MEOW:AGgn0012475 (61%) |species == Worm; gene == E04F6.5; score == 541; expect == 4e-154; MEOW:CEgn0007606 (48%) |species == Human; gene == ACAD9; score == 503; expect == 2e-142; MEOW:HUgn0028976 (46%) |species == Weed; gene == At3g45300; score == 198; expect == 7.0e-51; MEOW:ATgn0012521 (32%) |species == rice; score == 198; expect == 2.6e-50; MEOW:gnl|TIGR|8353.m00250 (33%) |species == ecoli; score == 129; expect == 4.6e-31; MEOW:ref|NP_414581.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000038 CHR 1 11 DID 1 LocusLink:38 MAP 1 11q22.3-q23.1 NAM 1 acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAT1 ID|HUgn0000038 DID|LocusLink:38 ORG|Homo sapiens RSQ|REFSEQ:NM_000019 RPA|REFPROT:NP_000010 DBA|XM:NM_000019 |NA:D10511 |NA:BC010942 |NA:D90228 |NA:none PAC|XP:NP_000010 SYM|ACAT1 NAM|acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) SYN|T2 |MAT |ACAT |THIL FNC|acetyl-Coenzyme A acetyltransferase 1 precursor REAB|This gene encodes a mitochondrially localized enzyme that catalyzes the reversible |formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately |27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are |associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of |isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric |acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. CHR|11 PRD|acetoacetyl Coenzyme A thiolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=38[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000019 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000019 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=37 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=38 |http://www.geneclinics.org/query?mim=203750 |http://www.geneclinics.org/query?mim=607809 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00072 DBL|UNIGENE:Hs.37 |OMIM:607809 |SNP:38 |UWCM:126861.html ENZ|EC:2.3.1.9 |acetyl-CoA C-acetyltransferase activity ; GO:0003985 MAP|11q22.3-q23.1 PHP|Alpha-methylacetoacetic aciduria CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Acat1; score == 693; expect == 0.0; MEOW:MGgn0000045 (84%) |species == rat; score == 691; expect == 0.0; MEOW:ref|NP_058771.1| (84%) |species == Mosquito; score == 510; expect == 3e-145; MEOW:AGgn0017971 (67%) |species == Fruitfly; gene == CG10932; score == 509; expect == 8e-145; MEOW:FBgn0029969 (65%) |species == Worm; gene == T02G5.7; score == 373; expect == 8e-104; MEOW:CEgn0015227 (49%) |species == Weed; gene == At5g47720; score == 369; expect == 1e-102; MEOW:ATgn0026318 (51%) |species == Weed; gene == At5g48230; score == 364; expect == 8e-101; MEOW:ATgn0021200 (51%) |species == rice; score == 342; expect == 6.7e-94; MEOW:gnl|TIGR|8357.m00537 (49%) |species == Yeast; gene == ERG10; score == 341; expect == 1.1e-94; MEOW:SGgn0005949 (48%) |species == rice; score == 318; expect == 7.9e-87; MEOW:gnl|TIGR|8350.m00101 (48%) |species == ecoli; score == 315; expect == 2.8e-86; MEOW:ref|NP_417321.1| (43%) |species == Zfish; gene == acat2; score == 305; expect == 3.8e-83; MEOW:ZFgn0000284 (42%) |species == Human; gene == ACAT2; score == 297; expect == 1.0e-80; MEOW:HUgn0000039 (43%) |species == ecoli; score == 282; expect == 3.4e-77; MEOW:ref|NP_416728.1| (44%) |species == Human; gene == ACAA2; score == 246; expect == 1.7e-65; MEOW:HUgn0010449 (39%) } # EOR GENR { RETE|ID 1 HUgn0000039 CHR 1 6 DID 1 LocusLink:39 MAP 1 6q25.3-q26 NAM 1 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAT2 ID|HUgn0000039 DID|LocusLink:39 ORG|Homo sapiens RSQ|REFSEQ:NM_005891 RPA|REFPROT:NP_005882 DBA|XM:NM_005891 |NA:AF356877 |NA:AK055001 |NA:BC000408 |NA:S70154 PAC|XP:NP_005882 SYM|ACAT2 NAM|acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) FNC|acetyl-Coenzyme A acetyltransferase 2 |lipid metabolism ; GO:0006629 REAB|Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. | Reported patients with ACAT2 deficiency have shown severe mental retardation and |hypotonus. The ACAT2 gene shows complementary overlapping with the 3-prime region |of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands |of DNA, as well as in opposite transcriptional orientation. CHR|6 PRD|acetoacetyl Coenzyme A thiolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278544 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=39[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:321951 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005891 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005891 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278544 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00072 DBL|UNIGENE:Hs.278544 |OMIM:100678 |SNP:39 MAP|6q25.3-q26 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Acat2; score == 697; expect == 0.0; MEOW:MGgn0000046 (87%) |species == rat; score == 693; expect == 0.0; MEOW:ref|XP_217796.2| (86%) |species == rat; score == 586; expect == 2e-167; MEOW:ref|XP_344813.1| (85%) |species == Zfish; gene == acat2; score == 569; expect == 1e-162; MEOW:ZFgn0000284 (70%) |species == Mosquito; gene == LOC20372; score == 452; expect == 8e-128; MEOW:AGgn0020372 (57%) |species == ecoli; score == 388; expect == 3e-109; MEOW:ref|NP_416728.1| (53%) |species == ecoli; score == 364; expect == 5e-101; MEOW:ref|NP_417321.1| (48%) |species == Weed; gene == At5g48230; score == 314; expect == 4.8e-86; MEOW:ATgn0021200 (46%) |species == Worm; gene == F53A2.7; score == 302; expect == 1.3e-82; MEOW:CEgn0011549 (42%) |species == Human; gene == ACAT1; score == 297; expect == 1.0e-80; MEOW:HUgn0000038 (43%) |species == Weed; gene == At5g47720; score == 293; expect == 1.5e-79; MEOW:ATgn0026318 (44%) |species == Human; gene == ACAA2; score == 293; expect == 1.5e-79; MEOW:HUgn0010449 (42%) |species == rice; score == 293; expect == 2.5e-79; MEOW:gnl|TIGR|8357.m00537 (44%) |species == Yeast; gene == ERG10; score == 287; expect == 1.8e-78; MEOW:SGgn0005949 (41%) |species == Fruitfly; gene == CG10932; score == 283; expect == 5.3e-77; MEOW:FBgn0029969 (41%) |species == Worm; gene == T02G5.7; score == 269; expect == 1.2e-72; MEOW:CEgn0015227 (39%) |species == rice; score == 262; expect == 4.7e-70; MEOW:gnl|TIGR|8350.m00101 (40%) |species == rice; score == 246; expect == 3.5e-65; MEOW:gnl|TIGR|8351.m05505 (38%) |species == rice; score == 246; expect == 2.7e-65; MEOW:gnl|TIGR|8362.m02423 (40%) |species == Human; gene == ACAA1; score == 245; expect == 4.6e-65; MEOW:HUgn0000030 (41%) } # EOR GENR { RETE|ID 1 HUgn0000040 CHR 1 17 DID 1 LocusLink:40 MAP 1 17q11.2-q12 NAM 1 amiloride-sensitive cation channel 1, neuronal (degenerin) ORG 1 Homo sapiens SYM 1 ACCN1 ID|HUgn0000040 DID|LocusLink:40 ORG|Homo sapiens RSQ|REFSEQ:NM_001094 |REFSEQ:NM_183377 RPA|REFPROT:NP_001085 |REFPROT:NP_899233 DBA|XM:NM_001094 |NA:AK127748 |NA:AL834182 |NA:U50352 |NA:U53212 |NA:U57352 |NA:none PAC|XP:NP_001085 SYM|ACCN1 NAM|amiloride-sensitive cation channel 1, neuronal (degenerin) SYN|ACCN |BNC1 |MDEG |ASIC2 |BNaC1 |ASIC2a |hBNaC1 FNC|neuronal amiloride-sensitive cation channel 1 isoform 1 |neuronal amiloride-sensitive cation channel 1 isoform 2 REAB|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) |superfamily. The members of this family are amiloride-sensitive sodium channels |that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, |and a large extracellular loop, which has many cysteine residues with conserved |spacing. The member encoded by this gene may play a role in neurotransmission. In |addition, a heteromeric association between this member and ACCN3 (variant 1) has |been observed to co-assemble into proton-gated channels sensitive to gadolinium. |Alternative splicing has been observed at this locus and two variants, encoding |distinct isoforms, have been identified. CHR|17 PRD|degenerin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6517 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=40[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4645366 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183377 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183377 DBL|UNIGENE:Hs.6517 |OMIM:601784 |SNP:40 MAP|17q11.2-q12 HG|species == rat; score == 973; expect == 0.0; MEOW:ref|NP_037024.1| (99%) |species == Mouse; gene == Accn1; score == 741; expect == 0.0; MEOW:MGgn0000050 (78%) |species == Human; gene == ACCN2; score == 716; expect == 0.0; MEOW:HUgn0000041 (66%) |species == Worm; gene == mec-10; score == 137; expect == 1.3e-32; MEOW:CEgn0001940 (28%) |species == Worm; gene == flr-1; score == 136; expect == 3.2e-32; MEOW:CEgn0000689 (24%) |species == Worm; gene == C24G7.4; score == 136; expect == 4.3e-32; MEOW:CEgn0005283 (27%) |species == Worm; gene == unc-105; score == 135; expect == 1.3e-31; MEOW:CEgn0002985 (30%) |species == Worm; gene == unc-8; score == 133; expect == 4.4e-31; MEOW:CEgn0002894 (27%) } # EOR GENR { RETE|ID 1 HUgn0000041 CHR 1 12 DID 1 LocusLink:41 MAP 1 12q12 NAM 1 amiloride-sensitive cation channel 2, neuronal ORG 1 Homo sapiens SYM 1 ACCN2 ID|HUgn0000041 DID|LocusLink:41 ORG|Homo sapiens RSQ|REFSEQ:NM_001095 |REFSEQ:NM_020039 RPA|REFPROT:NP_001086 |REFPROT:NP_064423 DBA|XM:NM_001095 |XM:NM_020039 |NA:BC013891 |NA:U78180 |NA:U78181 |NA:none PAC|XP:NP_001086 |XP:NP_064423 SYM|ACCN2 NAM|amiloride-sensitive cation channel 2, neuronal SYN|ASIC |BNaC2 |ASIC1A FNC|amiloride-sensitive cation channel 2, neuronal isoform a |amiloride-sensitive cation channel 2, neuronal isoform b |sodium ion transport ; GO:0006814 |ion transport ; GO:0006811 REAB|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) |superfamily. The members of this family are amiloride-sensitive sodium channels |that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, |and a large extracellular loop, which has many cysteine residues with conserved |spacing. The member encoded by this gene is expressed in most if not all brain neurons, |and it may be an ion channel subunit; however, its function as an ion channel remains |unknown. Alternative splicing of this gene generates 2 transcript products. CHR|12 PRD|hBNaC2 |Cation channel, amiloride-sensitive, neuronal, 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274361 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=41[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6944484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020039 DBL|UNIGENE:Hs.274361 |OMIM:602866 |SNP:41 MAP|12q12 ENZ|ion channel activity ; GO:0005216 |amiloride-sensitive sodium channel activity ; GO:0015280 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1068; expect == 0.0; MEOW:ref|NP_077068.1| (98%) |species == Human; gene == ACCN1; score == 716; expect == 0.0; MEOW:HUgn0000040 (66%) |species == Mouse; gene == Accn1; score == 601; expect == 2e-172; MEOW:MGgn0000050 (59%) |species == Mouse; gene == Accn4; score == 485; expect == 1e-137; MEOW:MGgn0042059 (49%) |species == Worm; gene == T28B8.5; score == 147; expect == 7.6e-36; MEOW:CEgn0017174 (23%) |species == Worm; gene == unc-8; score == 136; expect == 1.7e-32; MEOW:CEgn0002894 (27%) |species == Worm; gene == mec-10; score == 135; expect == 3.9e-32; MEOW:CEgn0001940 (27%) |species == Worm; gene == C24G7.4; score == 135; expect == 3.9e-32; MEOW:CEgn0005283 (26%) |species == Worm; gene == T28F4.2; score == 134; expect == 8.7e-32; MEOW:CEgn0017227 (23%) |species == Worm; gene == unc-105; score == 132; expect == 4.3e-31; MEOW:CEgn0002985 (27%) } # EOR GENR { RETE|ID 1 HUgn0000042 DID 1 LocusLink:42 NAM 1 acetylcholinesterase-associated protein ORG 1 Homo sapiens SYM 1 ACHAP ID|HUgn0000042 DID|LocusLink:42 ORG|Homo sapiens SYM|ACHAP NAM|acetylcholinesterase-associated protein URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836107 } # EOR GENR { RETE|ID 1 HUgn0000043 CHR 1 7 DID 1 LocusLink:43 MAP 1 7q22 NAM 1 acetylcholinesterase (YT blood group) ORG 1 Homo sapiens SYM 1 ACHE ID|HUgn0000043 DID|LocusLink:43 ORG|Homo sapiens RSQ|REFSEQ:NM_000665 |REFSEQ:NM_015831 RPA|REFPROT:NP_000656 |REFPROT:NP_056646 DBA|XM:NM_000665 |XM:NM_015831 |XM:NM_000665 |XM:NM_015831 |NA:AF002993 |NA:L06484 |NA:L42812 |NA:AF334270 |NA:BC026315 |NA:BC036813 |NA:M55040 |NA:none PAC|XP:NP_000656 |XP:NP_056646 |XP:NP_000656 |XP:NP_056646 SYM|ACHE NAM|acetylcholinesterase (YT blood group) SYN|YT FNC|acetylcholinesterase PI-linked form precursor |acetylcholinesterase hydrophilic form precursor REAB|Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular |junctions and brain cholinergic synapses, and thus terminates signal transmission. |It is also found on the red blood cell membranes, where it constitutes the Yt blood |group antigen. Acetylcholinesterase exists in multiple molecular forms which possess |similar catalytic properties, but differ in their oligomeric assembly and mode of |cell attachment to the cell surface. It is encoded by the single ACHE gene, and |the structural diversity in the gene products arises from alternative mRNA splicing, |and post-translational associations of catalytic and structural subunits. The major |form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic |species, which forms disulfide-linked oligomers with collagenous, or lipid-containing |structural subunits. The other, alternatively spliced form, expressed primarily |in the erythroid tissues, differs at the C-terminal end, and contains a cleavable |hydrophobic peptide with a GPI-anchor site. It associates with the membranes through |the phosphoinositide (PI) moieties added post-translationally. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154495 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=43[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118746 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015831 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015831 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154495 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.bioc.aecom.yu.edu/bgmut/yt.htm DBL|UNIGENE:Hs.154495 |OMIM:100740 |SNP:43 |UWCM:118746.html ENZ|EC:3.1.1.7 MAP|7q22 PHP|Blood group, Yt system HG|species == Mouse; gene == Ache; score == 1086; expect == 0.0; MEOW:MGgn0000055 (88%) |species == Zfish; gene == ache; score == 751; expect == 0.0; MEOW:ZFgn0002325 (59%) |species == rat; score == 647; expect == 0.0; MEOW:ref|NP_075231.1| (52%) |species == Human; gene == BCHE; score == 646; expect == 0.0; MEOW:HUgn0000590 (52%) |species == Mosquito; gene == LOC16929; score == 506; expect == 8e-144; MEOW:AGgn0016929 (47%) |species == Worm; gene == ace-1; score == 436; expect == 2e-122; MEOW:CEgn0000003 (41%) |species == Fruitfly; gene == Ace; score == 376; expect == 2e-104; MEOW:FBgn0000024 (35%) } # EOR GENR { RETE|ID 1 HUgn0000046 CHR 1 12 DID 1 LocusLink:46 MAP 1 12p13.3-p11.2 NAM 1 acrocallosal syndrome ORG 1 Homo sapiens SYM 1 ACLS ID|HUgn0000046 DID|LocusLink:46 ORG|Homo sapiens SYM|ACLS NAM|acrocallosal syndrome CHR|12 DBL|OMIM:200990 MAP|12p13.3-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136346 } # EOR GENR { RETE|ID 1 HUgn0000047 CHR 1 17 DID 1 LocusLink:47 MAP 1 17q12-q21 NAM 1 ATP citrate lyase ORG 1 Homo sapiens SYM 1 ACLY ID|HUgn0000047 DID|LocusLink:47 ORG|Homo sapiens RSQ|REFSEQ:NM_001096 RPA|REFPROT:NP_001087 DBA|XM:NM_001096 |NA:BC006195 |NA:U18197 |NA:X64330 |NA:none PAC|XP:NP_001087 SYM|ACLY NAM|ATP citrate lyase SYN|ATPCL |CLATP FNC|ATP citrate lyase |ATP catabolism ; GO:0006200 |coenzyme A metabolism ; GO:0015936 |citrate metabolism ; GO:0006101 |tricarboxylic acid cycle ; GO:0006099 |metabolism ; GO:0008152 |lipid biosynthesis ; GO:0008610 REAB|ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic |acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight |approximately 440,000) of apparently identical subunits. It catalyzes the formation |of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis |of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic |pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase |may be involved in the biosynthesis of acetylcholine. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=47[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:316220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001096 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001096 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=387567 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 DBL|UNIGENE:Hs.387567 |OMIM:108728 |SNP:47 ENZ|EC:4.1.3.8 |citrate (Si)-synthase activity ; GO:0004108 |ATP citrate synthase activity ; GO:0003878 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |transferase activity ; GO:0016740 MAP|17q12-q21 CEL|citrate lyase complex ; GO:0009346 HG|species == rat; score == 2086; expect == 0.0; MEOW:ref|NP_058683.1| (95%) |species == Mouse; gene == Acly; score == 2046; expect == 0.0; MEOW:MGgn0000059 (93%) |species == Fruitfly; gene == ATPCL; score == 1489; expect == 0.0; MEOW:FBgn0020236 (67%) |species == Mosquito; gene == LOC12364; score == 1474; expect == 0.0; MEOW:AGgn0012364 (67%) |species == Worm; gene == D1005.1; score == 1283; expect == 0.0; MEOW:CEgn0007269 (58%) |species == Worm; gene == B0365.1; score == 1279; expect == 0.0; MEOW:CEgn0003427 (59%) |species == Weed; gene == At3g06650; score == 647; expect == 0.0; MEOW:ATgn0016816 (51%) |species == Weed; gene == At5g49460; score == 642; expect == 0.0; MEOW:ATgn0022823 (51%) |species == rice; score == 626; expect == 5e-179; MEOW:gnl|TIGR|8350.m01804 (53%) } # EOR GENR { RETE|ID 1 HUgn0000048 CHR 1 9 DID 1 LocusLink:48 MAP 1 9p22-q32 NAM 1 aconitase 1, soluble ORG 1 Homo sapiens SYM 1 ACO1 ID|HUgn0000048 DID|LocusLink:48 ORG|Homo sapiens RSQ|REFSEQ:NM_002197 RPA|REFPROT:NP_002188 DBA|XM:NM_002197 |NA:AF261088 |NA:AK057904 |NA:BC018103 |NA:M58510 |NA:Z11559 |NA:none PAC|XP:NP_002188 SYM|ACO1 NAM|aconitase 1, soluble SYN|IRP1 |IREB1 |IREBP FNC|aconitase 1 |tricarboxylic acid cycle ; GO:0006099 |metabolism ; GO:0008152 |negative regulation of translation ; GO:0016478 REAB|Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is |a cytosolic protein which binds to iron-responsive elements (IREs). IREs are stem-loop |structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin |receptor mRNA. The iron-induced binding to the IRE results in repression of translation |of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading |transferrin receptor mRNA. Thus, IREB1 plays a central role in cellular iron homeostasis. | It was also shown to have aconitase activity, and hence grouped with the aconitase |family of enzymes. CHR|9 PRD|Aconitase, soluble |iron-responsive element binding protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=319677 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=48[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002197 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002197 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=319677 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00630 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00720 DBL|UNIGENE:Hs.319677 |OMIM:100880 |SNP:48 ENZ|EC:4.2.1.3 |aconitate hydratase activity ; GO:0003994 |RNA binding ; GO:0003723 |lyase activity ; GO:0016829 MAP|9p22-q32 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Aco1; score == 1622; expect == 0.0; MEOW:MGgn0000060 (93%) |species == rat; score == 1602; expect == 0.0; MEOW:ref|XP_346736.1| (93%) |species == Mosquito; score == 1204; expect == 0.0; MEOW:AGgn0015921 (67%) |species == Fruitfly; gene == Irp-1B; score == 1171; expect == 0.0; MEOW:FBgn0024957 (67%) |species == Fruitfly; gene == Irp-1A; score == 1161; expect == 0.0; MEOW:FBgn0024958 (67%) |species == Weed; gene == At2g05710; score == 1090; expect == 0.0; MEOW:ATgn0009667 (62%) |species == rice; score == 1080; expect == 0.0; MEOW:gnl|TIGR|8356.m00870 (61%) |species == Weed; gene == At4g35830; score == 1077; expect == 0.0; MEOW:ATgn0017137 (60%) |species == rice; score == 1059; expect == 0.0; MEOW:gnl|TIGR|8360.m00338 (60%) |species == Weed; gene == At4g26970; score == 1050; expect == 0.0; MEOW:ATgn0018182 (60%) |species == Human; gene == IREB2; score == 981; expect == 0.0; MEOW:HUgn0003658 (53%) |species == ecoli; score == 863; expect == 0.0; MEOW:ref|NP_415792.1| (52%) } # EOR GENR { RETE|ID 1 HUgn0000049 CHR 1 22 DID 1 LocusLink:49 MAP 1 22q13-qter NAM 1 acrosin ORG 1 Homo sapiens SYM 1 ACR ID|HUgn0000049 DID|LocusLink:49 ORG|Homo sapiens RSQ|REFSEQ:NM_001097 RPA|REFPROT:NP_001088 DBA|XM:NM_001097 |NA:M77379 |NA:M77381 |NA:X54017 |NA:X66188 |NA:Y00970 |NA:none PAC|XP:NP_001088 SYM|ACR NAM|acrosin FNC|acrosin precursor |acrosome reaction ; GO:0007340 |proteolysis and peptidolysis ; GO:0006508 REAB|Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It |is a typical serine proteinase with trypsin-like specificity. It is stored in the |acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis |of the zona pellucida, thus facilitating penetration of the sperm through the innermost |glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in |the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in |the haploid spermatids. CHR|22 PRD|proacrosin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183088 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=49[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119645 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001097 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001097 DBL|UNIGENE:Hs.183088 |OMIM:102480 |SNP:49 ENZ|EC:3.4.21.10 |trypsin activity ; GO:0004295 |acrosin activity ; GO:0004284 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|22q13-qter HG|species == Mouse; gene == Acr; score == 501; expect == 3e-142; MEOW:MGgn0000066 (68%) |species == rat; score == 451; expect == 3e-127; MEOW:ref|NP_036622.1| (63%) |species == Human; gene == bA395L14.13; score == 250; expect == 4.9e-67; MEOW:HUgn0284967 (96%) |species == Mosquito; gene == LOC17112; score == 161; expect == 3.1e-40; MEOW:AGgn0017112 (35%) |species == Fruitfly; gene == Sb; score == 161; expect == 4.3e-40; MEOW:FBgn0003319 (36%) |species == Mosquito; gene == LOC22018; score == 155; expect == 2.2e-38; MEOW:AGgn0022018 (35%) |species == Fruitfly; gene == CG10663; score == 149; expect == 2.2e-36; MEOW:FBgn0036287 (31%) |species == Mosquito; gene == LOC11642; score == 148; expect == 2.4e-36; MEOW:AGgn0011642 (37%) |species == Fruitfly; gene == CG11824; score == 147; expect == 8.3e-36; MEOW:FBgn0033360 (34%) |species == Fruitfly; gene == CG4914; score == 147; expect == 4.9e-36; MEOW:FBgn0036436 (36%) |species == Mosquito; gene == LOC4000; score == 146; expect == 1.0e-35; MEOW:AGgn0004000 (38%) |species == Mosquito; gene == LOC12218; score == 146; expect == 1.4e-35; MEOW:AGgn0012218 (37%) |species == Worm; gene == C07G1.1; score == 145; expect == 3.7e-35; MEOW:CEgn0004322 (36%) |species == Fruitfly; gene == CG9372; score == 145; expect == 3.2e-35; MEOW:FBgn0036891 (35%) |species == Mosquito; gene == LOC17160; score == 144; expect == 5.2e-35; MEOW:AGgn0017160 (35%) |species == Mosquito; score == 142; expect == 2.6e-34; MEOW:AGgn0028900 (33%) |species == Fruitfly; gene == CG18735; score == 142; expect == 1.6e-34; MEOW:FBgn0042098 (34%) |species == Mosquito; gene == LOC12216; score == 141; expect == 4.4e-34; MEOW:AGgn0012216 (35%) |species == Fruitfly; gene == CG2105; score == 140; expect == 7.8e-34; MEOW:FBgn0033192 (34%) |species == Fruitfly; gene == CG8213; score == 138; expect == 3.0e-33; MEOW:FBgn0033359 (34%) |species == Mosquito; gene == LOC10961; score == 137; expect == 6.3e-33; MEOW:AGgn0010961 (33%) |species == Fruitfly; gene == CG8172; score == 136; expect == 1.5e-32; MEOW:FBgn0033362 (33%) |species == Mosquito; score == 135; expect == 2.4e-32; MEOW:AGgn0025376 (32%) |species == Fruitfly; gene == CG4386; score == 135; expect == 3.3e-32; MEOW:FBgn0034661 (32%) |species == Mosquito; score == 134; expect == 5.8e-32; MEOW:AGgn0026298 (38%) |species == Worm; gene == ZK546.15; score == 134; expect == 5.0e-32; MEOW:CEgn0021019 (32%) |species == Mosquito; gene == LOC19999; score == 132; expect == 1.5e-31; MEOW:AGgn0019999 (37%) |species == Mosquito; gene == LOC15292; score == 131; expect == 5.4e-31; MEOW:AGgn0015292 (36%) |species == chimp; score == 126; expect == 4.8e-31; MEOW:sp|Q95ND7|Q95ND7 (35%) } # EOR GENR { RETE|ID 1 HUgn0000050 CHR 1 22 DID 1 LocusLink:50 MAP 1 22q11.2-q13.31 NAM 1 aconitase 2, mitochondrial ORG 1 Homo sapiens SYM 1 ACO2 ID|HUgn0000050 DID|LocusLink:50 ORG|Homo sapiens RSQ|REFSEQ:NM_001098 RPA|REFPROT:NP_001089 DBA|XM:NM_001098 |NA:U87926 |NA:U87927 |NA:U87928 |NA:U87929 |NA:U87930 |NA:U87931 |NA:U87932 |NA:U87933 |NA:U87934 |NA:U87935 |NA:U87936 |NA:U87937 |NA:U87938 |NA:U87939 |NA:BC014092 |NA:BC026196 |NA:U80040 |NA:none PAC|XP:NP_001089 SYM|ACO2 NAM|aconitase 2, mitochondrial FNC|aconitase 2 |citrate metabolism ; GO:0006101 |tricarboxylic acid cycle ; GO:0006099 |energy pathways ; GO:0006091 REAB|Aconitase 2 is an enzyme of the TCA cycle and is encoded in the nucleus and active |within the mitochondrion. Aconitase catalyzes the interconversion of citrate to |isocitrate via cis-aconitate in the second step of the TCA cycle. Isoforms of ACO2 |have been reported but are not well characterized. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=50[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118961 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001098 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=300463 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00630 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00720 DBL|UNIGENE:Hs.300463 |OMIM:100850 |SNP:50 ENZ|EC:4.2.1.3 |aconitate hydratase activity ; GO:0003994 |iron ion binding ; GO:0005506 |lyase activity ; GO:0016829 MAP|22q11.2-q13.31 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Aco2; score == 1518; expect == 0.0; MEOW:MGgn0000061 (96%) |species == rat; score == 1505; expect == 0.0; MEOW:ref|NP_077374.1| (95%) |species == Human; gene == LOC343508; score == 1296; expect == 0.0; MEOW:HUgn0343508 (85%) |species == Mosquito; score == 1147; expect == 0.0; MEOW:AGgn0018525 (74%) |species == Worm; gene == aco-2; score == 1129; expect == 0.0; MEOW:CEgn0037206 (75%) |species == Fruitfly; gene == CG4706; score == 1074; expect == 0.0; MEOW:FBgn0037862 (70%) |species == Yeast; gene == ACO1; score == 1026; expect == 0.0; MEOW:SGgn0004295 (67%) |species == Weed; gene == At4g26970; score == 204; expect == 1.6e-52; MEOW:ATgn0018182 (28%) |species == rice; score == 200; expect == 6.5e-51; MEOW:gnl|TIGR|8356.m00870 (27%) |species == Weed; gene == At2g05710; score == 195; expect == 7.3e-50; MEOW:ATgn0009667 (27%) |species == ecoli; score == 188; expect == 1.0e-48; MEOW:ref|NP_415792.1| (27%) |species == ecoli; score == 160; expect == 3.3e-39; MEOW:ref|NP_415292.1| (24%) } # EOR GENR { RETE|ID 1 HUgn0000051 CHR 1 17 DID 1 LocusLink:51 MAP 1 17q24-q25 NAM 1 acyl-Coenzyme A oxidase 1, palmitoyl ORG 1 Homo sapiens SYM 1 ACOX1 ID|HUgn0000051 DID|LocusLink:51 ORG|Homo sapiens RSQ|REFSEQ:NM_004035 |REFSEQ:NM_007292 RPA|REFPROT:NP_004026 |REFPROT:NP_009223 DBA|XM:NM_004035 |XM:NM_007292 |NA:U03254 |NA:U03268 |NA:BC008767 |NA:BC010425 |NA:BX537380 |NA:S69189 |NA:U07866 |NA:X71440 |NA:none PAC|XP:NP_004026 |XP:NP_009223 SYM|ACOX1 NAM|acyl-Coenzyme A oxidase 1, palmitoyl SYN|ACOX |MGC1198 |PALMCOX FNC|acyl-Coenzyme A oxidase isoform a |acyl-Coenzyme A oxidase isoform b |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |prostaglandin metabolism ; GO:0006693 |energy pathways ; GO:0006091 REAB|The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation |pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. ACOX1 |donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. |Defects in the ACOX1 gene result in pseudoneonatal adrenoleukodystrophy, a disease |that is characterized by accumulation of very long chain fatty acids. CHR|17 PRD|acyl-coenzyme A oxidase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=379991 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=51[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:282672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007292 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007292 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=379991 |http://www.geneclinics.org/query?mim=264470 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.379991 |OMIM:264470 |SNP:51 ENZ|EC:1.3.3.6 |acyl-CoA oxidase activity ; GO:0003997 |electron donor activity ; GO:0009053 |oxidoreductase activity ; GO:0016491 MAP|17q24-q25 PHP|Adrenoleukodystrophy, pseudoneonatal CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1147; expect == 0.0; MEOW:ref|NP_059036.1| (85%) |species == Mouse; gene == Acox1; score == 1132; expect == 0.0; MEOW:MGgn0000062 (84%) |species == Human; gene == ACOX2; score == 545; expect == 2e-155; MEOW:HUgn0008309 (44%) |species == Mosquito; score == 542; expect == 2e-154; MEOW:AGgn0020032 (43%) |species == Weed; gene == At2g35690; score == 532; expect == 3e-151; MEOW:ATgn0007600 (43%) |species == Weed; gene == At4g16760; score == 532; expect == 3e-151; MEOW:ATgn0017917 (44%) |species == Fruitfly; gene == CG5009; score == 528; expect == 2e-150; MEOW:FBgn0027572 (43%) |species == rice; score == 524; expect == 1e-148; MEOW:gnl|TIGR|8354.m00035 (43%) |species == Mosquito; score == 516; expect == 7e-147; MEOW:AGgn0020118 (41%) |species == Worm; gene == F08A8.1; score == 513; expect == 1e-145; MEOW:CEgn0007842 (43%) |species == Worm; gene == F59F4.1; score == 504; expect == 4e-143; MEOW:CEgn0012572 (42%) |species == Worm; gene == F08A8.4; score == 493; expect == 1e-139; MEOW:CEgn0007845 (42%) |species == Worm; gene == F08A8.3; score == 491; expect == 5e-139; MEOW:CEgn0007844 (42%) |species == Worm; gene == F08A8.2; score == 475; expect == 2e-134; MEOW:CEgn0007843 (40%) |species == Worm; gene == C48B4.1; score == 452; expect == 2e-127; MEOW:CEgn0006692 (38%) |species == Fruitfly; gene == Acox57D-p; score == 449; expect == 2e-126; MEOW:FBgn0034628 (39%) |species == Fruitfly; gene == Acox57D-d; score == 438; expect == 3e-123; MEOW:FBgn0034629 (37%) |species == Fruitfly; gene == CG4586; score == 426; expect == 1e-119; MEOW:FBgn0029924 (38%) |species == Yeast; gene == POX1; score == 275; expect == 2.2e-74; MEOW:SGgn0003173 (28%) } # EOR GENR { RETE|ID 1 HUgn0000052 CHR 1 2 DID 1 LocusLink:52 MAP 1 2p25 NAM 1 acid phosphatase 1, soluble ORG 1 Homo sapiens SYM 1 ACP1 ID|HUgn0000052 DID|LocusLink:52 ORG|Homo sapiens RSQ|REFSEQ:NM_004300 |REFSEQ:NM_007099 |REFSEQ:NM_177554 RPA|REFPROT:NP_004291 |REFPROT:NP_009030 |REFPROT:NP_808222 DBA|XM:NM_004300 |XM:NM_007099 |XM:NM_177554 |NA:L06508 |NA:U25847 |NA:U25849 |NA:BC007422 |NA:BC020699 |NA:BI460080 |NA:M83653 |NA:M83654 |NA:M87545 |NA:M87546 |NA:S62884 |NA:S62885 |NA:Y16846 |NA:none PAC|XP:NP_004291 |XP:NP_009030 |XP:NP_808222 SYM|ACP1 NAM|acid phosphatase 1, soluble SYN|HAAP |MGC3499 FNC|acid phosphatase 1 isoform a |acid phosphatase 1 isoform b |acid phosphatase 1 isoform c REAB|The product of this gene belongs to the phosphotyrosine protein phosphatase family |of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase |by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. |This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. |This gene is genetically polymorphic, and three common alleles segregating at the |corresponding locus give rise to six phenotypes. Each allele appears to encode at |least two electrophoretically different isozymes, Bf and Bs, which are produced |in allele-specific ratios. Three transcript variants encoding distinct isoforms |have been identified for this gene. CHR|2 PRD|adipocyte acid phosphatase |red cell acid phosphatase 1 |protein tyrosine phosphatase |acid phosphatase of erythrocyte |cytoplasmic phosphotyrosyl protein phosphatase |low molecular weight phosphotyrosine protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130873 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=52[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118962 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_177554 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_177554 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=130873 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.130873 |OMIM:171500 |SNP:52 ENZ|EC:3.1.3.2 |EC:3.1.3.48 |acid phosphatase activity ; GO:0003993 MAP|2p25 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 300; expect == 1.7e-82; MEOW:ref|NP_067085.1| (87%) |species == Mouse; gene == Acp1; score == 296; expect == 2.8e-81; MEOW:MGgn0000063 (86%) |species == rat; score == 276; expect == 4.4e-75; MEOW:ref|XP_237746.2| (80%) |species == rat; score == 258; expect == 1.2e-69; MEOW:ref|XP_234263.2| (82%) |species == rat; score == 242; expect == 7.0e-65; MEOW:ref|XP_222985.2| (71%) |species == Mosquito; gene == LOC11124; score == 146; expect == 4.0e-36; MEOW:AGgn0011124 (51%) |species == Fruitfly; gene == primo-1; score == 132; expect == 4.7e-32; MEOW:FBgn0040077 (46%) } # EOR GENR { RETE|ID 1 HUgn0000053 CHR 1 11 DID 1 LocusLink:53 MAP 1 11p11.2-p11.11 NAM 1 acid phosphatase 2, lysosomal ORG 1 Homo sapiens SYM 1 ACP2 ID|HUgn0000053 DID|LocusLink:53 ORG|Homo sapiens RSQ|REFSEQ:NM_001610 RPA|REFPROT:NP_001601 DBA|XM:NM_001610 |NA:X15525 |NA:AY007137 |NA:BC003160 |NA:X12548 |NA:none PAC|XP:NP_001601 SYM|ACP2 NAM|acid phosphatase 2, lysosomal FNC|lysosomal acid phosphatase 2 precursor REAB|Lysosomal acid phosphatase is comprised of two subunits, alpha and beta, and is chemically |and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase |2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric |monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations |in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75589 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=53[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118963 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001610 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001610 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75589 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24447 DBL|UNIGENE:Hs.75589 |OMIM:171650 |SNP:53 ENZ|EC:3.1.3.2 |acid phosphatase activity ; GO:0003993 |hydrolase activity ; GO:0016787 MAP|11p11.2-p11.11 CEL|lysosomal membrane ; GO:0005765 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Acp2; score == 767; expect == 0.0; MEOW:MGgn0000064 (89%) |species == rat; score == 759; expect == 0.0; MEOW:ref|NP_058684.1| (89%) |species == Human; gene == ACPP; score == 380; expect == 6e-106; MEOW:HUgn0000055 (51%) |species == Human; gene == ACPT; score == 316; expect == 1.8e-86; MEOW:HUgn0093650 (46%) |species == Fruitfly; gene == Acph-1; score == 232; expect == 3.5e-61; MEOW:FBgn0000032 (35%) |species == Mosquito; gene == LOC14917; score == 219; expect == 1.3e-57; MEOW:AGgn0014917 (36%) |species == Fruitfly; gene == CG9451; score == 204; expect == 5.8e-53; MEOW:FBgn0036876 (34%) |species == Worm; gene == B0361.7; score == 196; expect == 1.9e-50; MEOW:CEgn0003423 (32%) |species == Fruitfly; gene == CG9452; score == 194; expect == 6.0e-50; MEOW:FBgn0036877 (32%) |species == Mosquito; gene == LOC18380; score == 186; expect == 1.6e-47; MEOW:AGgn0018380 (34%) |species == Worm; gene == T13B5.3; score == 179; expect == 1.8e-45; MEOW:CEgn0016140 (33%) |species == Worm; gene == F52E1.8; score == 174; expect == 4.4e-44; MEOW:CEgn0011491 (31%) |species == Worm; gene == R13H4.3; score == 174; expect == 9.4e-44; MEOW:CEgn0014947 (33%) |species == Worm; gene == T21B6.2; score == 163; expect == 1.7e-40; MEOW:CEgn0016525 (30%) } # EOR GENR { RETE|ID 1 HUgn0000054 CHR 1 19 DID 1 LocusLink:54 MAP 1 19p13.3-p13.2 NAM 1 acid phosphatase 5, tartrate resistant ORG 1 Homo sapiens SYM 1 ACP5 ID|HUgn0000054 DID|LocusLink:54 ORG|Homo sapiens RSQ|REFSEQ:NM_001611 RPA|REFPROT:NP_001602 DBA|XM:NM_001611 |NA:X67123 |NA:BC025414 |NA:J04430 |NA:X14618 |NA:none PAC|XP:NP_001602 SYM|ACP5 NAM|acid phosphatase 5, tartrate resistant SYN|TRAP FNC|tartrate resistant acid phosphatase 5 precursor REAB|Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion |of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic |of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1211 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=54[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001611 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001611 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1211 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.1211 |OMIM:171640 |SNP:54 ENZ|EC:3.1.3.2 |acid phosphatase activity ; GO:0003993 |hydrolase activity ; GO:0016787 MAP|19p13.3-p13.2 CEL|lysosome ; GO:0005764 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Acp5; score == 568; expect == 1e-162; MEOW:MGgn0000065 (85%) |species == Worm; gene == F02E9.7; score == 213; expect == 1.6e-55; MEOW:CEgn0007737 (36%) } # EOR GENR { RETE|ID 1 HUgn0000055 CHR 1 3 DID 1 LocusLink:55 MAP 1 3q21-q23 NAM 1 acid phosphatase, prostate ORG 1 Homo sapiens SYM 1 ACPP ID|HUgn0000055 DID|LocusLink:55 ORG|Homo sapiens RSQ|REFSEQ:NM_001099 RPA|REFPROT:NP_001090 DBA|XM:NM_001099 |NA:M97589 |NA:U07086 |NA:U07097 |NA:BC007460 |NA:BC008493 |NA:BC016344 |NA:BC017877 |NA:M24902 |NA:M34840 |NA:X52174 |NA:X53605 |NA:none PAC|XP:NP_001090 SYM|ACPP NAM|acid phosphatase, prostate SYN|PAP FNC|prostatic acid phosphatase precursor REAB|Prostatic acid phosphatase precursor catalyzes the conversion of orthophosphoric |monoester to alcohol and orthophosphate. ACPP is synthesized under androgen regulation |and secreted by the epithelial cells of the prostrate gland. Sequence comparison |has indicated the presence of several polymorphisms. ACPP undergoes alternative |splicing in the 3' UTR. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388677 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=55[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001099 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001099 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388677 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.388677 |OMIM:171790 |SNP:55 ENZ|EC:3.1.3.2 MAP|3q21-q23 HG|species == Mouse; gene == Acpp; score == 594; expect == 2e-170; MEOW:MGgn0015009 (83%) |species == rat; score == 573; expect == 7e-164; MEOW:ref|NP_064457.1| (79%) |species == Human; gene == ACP2; score == 380; expect == 6e-106; MEOW:HUgn0000053 (51%) |species == Fruitfly; gene == Acph-1; score == 240; expect == 1.7e-63; MEOW:FBgn0000032 (37%) |species == Mosquito; gene == LOC14917; score == 233; expect == 1.0e-61; MEOW:AGgn0014917 (38%) |species == Worm; gene == B0361.7; score == 192; expect == 2.4e-49; MEOW:CEgn0003423 (32%) |species == Worm; gene == R13H4.3; score == 180; expect == 1.0e-45; MEOW:CEgn0014947 (29%) |species == Worm; gene == T21B6.2; score == 180; expect == 1.3e-45; MEOW:CEgn0016525 (31%) |species == Worm; gene == T13B5.3; score == 175; expect == 5.2e-44; MEOW:CEgn0016140 (32%) |species == Worm; gene == F52E1.8; score == 164; expect == 6.6e-41; MEOW:CEgn0011491 (32%) } # EOR GENR { RETE|ID 1 HUgn0000056 CHR 1 11 DID 1 LocusLink:56 MAP 1 11p12-q13 NAM 1 acrosomal vesicle protein 1 ORG 1 Homo sapiens SYM 1 ACRV1 ID|HUgn0000056 DID|LocusLink:56 ORG|Homo sapiens RSQ|REFSEQ:NM_001612 |REFSEQ:NM_020069 |REFSEQ:NM_020107 |REFSEQ:NM_020108 |REFSEQ:NM_020109 |REFSEQ:NM_020110 |REFSEQ:NM_020111 |REFSEQ:NM_020112 |REFSEQ:NM_020113 |REFSEQ:NM_020114 |REFSEQ:NM_020115 RPA|REFPROT:NP_001603 |REFPROT:NP_064454 |REFPROT:NP_064492 |REFPROT:NP_064493 |REFPROT:NP_064494 |REFPROT:NP_064495 |REFPROT:NP_064496 |REFPROT:NP_064497 |REFPROT:NP_064498 |REFPROT:NP_064499 |REFPROT:NP_064500 DBA|XM:NM_001612 |XM:NM_020069 |XM:NM_020107 |XM:NM_020108 |XM:NM_020109 |XM:NM_020110 |XM:NM_020111 |XM:NM_020112 |XM:NM_020113 |XM:NM_020114 |XM:NM_020115 |NA:S65576 |NA:S65578 |NA:S65583 |NA:S65606 |NA:BC014588 |NA:H93373 |NA:M82967 |NA:M82968 |NA:none PAC|XP:NP_001603 |XP:NP_064454 |XP:NP_064492 |XP:NP_064493 |XP:NP_064494 |XP:NP_064495 |XP:NP_064496 |XP:NP_064497 |XP:NP_064498 |XP:NP_064499 |XP:NP_064500 SYM|ACRV1 NAM|acrosomal vesicle protein 1 SYN|SPACA2 |D11S4365 FNC|acrosomal vesicle protein 1 isoform a precursor |acrosomal vesicle protein 1 isoform b precursor |acrosomal vesicle protein 1 isoform c precursor |acrosomal vesicle protein 1 isoform d precursor |acrosomal vesicle protein 1 isoform e precursor |acrosomal vesicle protein 1 isoform f precursor |acrosomal vesicle protein 1 isoform g precursor |acrosomal vesicle protein 1 isoform h precursor |acrosomal vesicle protein 1 isoform i precursor |acrosomal vesicle protein 1 isoform j precursor |acrosomal vesicle protein 1 isoform k precursor |development ; GO:0007275 REAB|This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein |1, that arises within the acrosomal vesicle during spermatogenesis, and is associated |with the acrosomal membranes and matrix of mature sperm. This gene consists of 4 |exons and its alternative splicing generates 11 distinct transcripts, which encode |protein isoforms ranging from 81 to 265 amino acids. The longest transcript is the |most abundant, comprising 53-72% of the total acrosomal vesicle protein 1 messages; |the second largest transcript comprises 15-32%; the third and the fourth largest |transcripts account for 3.4-8.3% and 8.7-12.5%, respectively; and the remaining |7 transcripts combined account for < 1% of the total acrosomal vesicle protein 1 |message. It is suggested that phenomena of cryptic splicing and exon skipping occur |within this gene. The acrosomal vesicle protein 1 may be involved in sperm-zona |binding or penetration, and it is a potential contraceptive vaccine immunogen for |humans. CHR|11 PRD|SP-10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169222 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=56[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127969 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001612 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001612 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169222 DBL|UNIGENE:Hs.169222 |OMIM:102525 |SNP:56 MAP|11p12-q13 HG|species == rat; score == 285; expect == 1.4e-77; MEOW:ref|NP_068515.1| (62%) |species == Mouse; gene == Acrv1; score == 281; expect == 1.7e-76; MEOW:MGgn0000083 (61%) } # EOR GENR { RETE|ID 1 HUgn0000058 CHR 1 1 DID 1 LocusLink:58 MAP 1 1q42.13-q42.2 NAM 1 actin, alpha 1, skeletal muscle ORG 1 Homo sapiens SYM 1 ACTA1 ID|HUgn0000058 DID|LocusLink:58 ORG|Homo sapiens RSQ|REFSEQ:NM_001100 RPA|REFPROT:NP_001091 DBA|XM:NM_001100 |NA:M20543 |NA:AK096902 |NA:BC012597 |NA:BX648545 |NA:J00068 |NA:none PAC|XP:NP_001091 SYM|ACTA1 NAM|actin, alpha 1, skeletal muscle SYN|ACTA |ASMA |NEM1 |NEM2 FNC|alpha 1 actin precursor |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|Actin alpha 1 which is expressed in skeletal muscle is one of six different actin |isoforms which have been identified. Actins are highly conserved proteins that |are involved in cell motility, structure and integrity. Alpha actins are a major |constituent of the contractile apparatus. CHR|1 PRD|alpha skeletal muscle actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1288 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=58[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120535 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001100 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001100 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1288 |http://www.geneclinics.org/query?mim=102610 DBL|UNIGENE:Hs.1288 |OMIM:102610 |SNP:58 MAP|1q42.13-q42.2 PHP|Myopathy, actin |Myopathy, nemaline, 161800 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Acta1; score == 765; expect == 0.0; MEOW:MGgn0000091 (100%) |species == rat; score == 765; expect == 0.0; MEOW:ref|NP_062085.1| (100%) |species == Human; gene == ACTC; score == 760; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Mouse; gene == Actc1; score == 760; expect == 0.0; MEOW:MGgn0000096 (98%) |species == Zfish; gene == acta1; score == 758; expect == 0.0; MEOW:ZFgn0000929 (98%) |species == Human; gene == ACTA2; score == 753; expect == 0.0; MEOW:HUgn0000059 (97%) |species == Mouse; gene == Acta2; score == 753; expect == 0.0; MEOW:MGgn0000107 (97%) |species == Human; gene == ACTG2; score == 748; expect == 0.0; MEOW:HUgn0000072 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_037025.1| (98%) |species == rat; score == 744; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-4; score == 726; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Worm; gene == act-1; score == 725; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-2; score == 725; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 725; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Mosquito; gene == LOC19055; score == 723; expect == 0.0; MEOW:AGgn0019055 (93%) |species == Fruitfly; gene == Act5C; score == 723; expect == 0.0; MEOW:FBgn0000042 (93%) |species == Fruitfly; gene == Act42A; score == 723; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTG1; score == 721; expect == 0.0; MEOW:HUgn0000071 (93%) |species == Mouse; gene == Actg; score == 721; expect == 0.0; MEOW:MGgn0000097 (93%) |species == Human; gene == ACTB; score == 720; expect == 0.0; MEOW:HUgn0000060 (93%) |species == Mouse; gene == Actb; score == 720; expect == 0.0; MEOW:MGgn0000093 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_112406.1| (93%) |species == Fruitfly; gene == Act87E; score == 718; expect == 0.0; MEOW:FBgn0000046 (93%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Fruitfly; gene == Act57B; score == 715; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act88F; score == 714; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC15027; score == 713; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Mosquito; gene == LOC15039; score == 712; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 712; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 709; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 701; expect == 0.0; MEOW:ref|XP_213540.2| (92%) |species == rat; score == 701; expect == 0.0; MEOW:ref|XP_215761.2| (92%) |species == Worm; gene == act-5; score == 699; expect == 0.0; MEOW:CEgn0000032 (90%) |species == Mouse; gene == 4732495G21Rik; score == 695; expect == 0.0; MEOW:MGgn0040763 (89%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Mosquito; gene == LOC22175; score == 691; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Weed; gene == At3g12110; score == 691; expect == 0.0; MEOW:ATgn0016066 (87%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (88%) |species == Mosquito; score == 689; expect == 0.0; MEOW:AGgn0015031 (88%) |species == Weed; gene == At2g37620; score == 689; expect == 0.0; MEOW:ATgn0008857 (87%) |species == Weed; gene == At3g53750; score == 689; expect == 0.0; MEOW:ATgn0013219 (87%) |species == rat; score == 689; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == rice; score == 688; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == Mosquito; score == 686; expect == 0.0; MEOW:AGgn0016397 (87%) |species == Human; gene == LOC345651; score == 686; expect == 0.0; MEOW:HUgn0345651 (87%) |species == Weed; gene == At5g09810; score == 685; expect == 0.0; MEOW:ATgn0022752 (87%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (86%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (86%) |species == rat; score == 680; expect == 0.0; MEOW:ref|XP_213911.2| (90%) |species == Weed; gene == At1g49240; score == 679; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Weed; gene == At5g59370; score == 679; expect == 0.0; MEOW:ATgn0025880 (86%) |species == Weed; gene == At3g46520; score == 678; expect == 0.0; MEOW:ATgn0013457 (86%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == rice; score == 677; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (84%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (87%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == rice; score == 670; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC375275; score == 669; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 668; expect == 0.0; MEOW:HUgn0129439 (86%) |species == Human; gene == LOC375273; score == 665; expect == 0.0; MEOW:HUgn0375273 (86%) |species == rice; score == 657; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (89%) |species == Mouse; gene == Actg2; score == 648; expect == 0.0; MEOW:MGgn0000100 (98%) |species == Weed; gene == At2g42100; score == 638; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Weed; gene == At3g18780; score == 638; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Mosquito; gene == LOC22306; score == 602; expect == 6e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000059 CHR 1 10 DID 1 LocusLink:59 MAP 1 10q23.3 NAM 1 actin, alpha 2, smooth muscle, aorta ORG 1 Homo sapiens SYM 1 ACTA2 ID|HUgn0000059 DID|LocusLink:59 ORG|Homo sapiens RSQ|REFSEQ:NM_001613 RPA|REFPROT:NP_001604 DBA|XM:NM_001613 |NA:D00618 |NA:K01741 |NA:K01742 |NA:K01743 |NA:K01744 |NA:K01745 |NA:K01746 |NA:K01747 |NA:M33216 |NA:BC017554 |NA:J05192 |NA:X13839 |NA:none PAC|XP:NP_001604 SYM|ACTA2 NAM|actin, alpha 2, smooth muscle, aorta SYN|ACTSA FNC|alpha 2 actin |muscle development ; GO:0007517 REAB|Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different |actin isoforms which have been identified. Actins are highly conserved proteins |that are involved in cell motility, structure and integrity. Alpha actins are a |major constituent of the contractile apparatus. CHR|10 PRD|alpha-cardiac actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=208641 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=59[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125197 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001613 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001613 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=208641 DBL|UNIGENE:Hs.208641 |OMIM:102620 |SNP:59 MAP|10q23.3 ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 |striated muscle thin filament ; GO:0005865 HG|species == Mouse; gene == Acta2; score == 765; expect == 0.0; MEOW:MGgn0000107 (100%) |species == Human; gene == ACTC; score == 755; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Human; gene == ACTG2; score == 755; expect == 0.0; MEOW:HUgn0000072 (99%) |species == Mouse; gene == Actc1; score == 755; expect == 0.0; MEOW:MGgn0000096 (98%) |species == rat; score == 755; expect == 0.0; MEOW:ref|NP_037025.1| (99%) |species == Human; gene == ACTA1; score == 753; expect == 0.0; MEOW:HUgn0000058 (97%) |species == Mouse; gene == Acta1; score == 753; expect == 0.0; MEOW:MGgn0000091 (97%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_062085.1| (97%) |species == Zfish; gene == acta1; score == 750; expect == 0.0; MEOW:ZFgn0000929 (97%) |species == rat; score == 740; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-2; score == 727; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-4; score == 726; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Mosquito; gene == LOC19055; score == 725; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Worm; gene == act-1; score == 725; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-3; score == 725; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Fruitfly; gene == Act5C; score == 725; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 725; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTB; score == 724; expect == 0.0; MEOW:HUgn0000060 (94%) |species == Human; gene == ACTG1; score == 724; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actb; score == 724; expect == 0.0; MEOW:MGgn0000093 (94%) |species == Mouse; gene == Actg; score == 724; expect == 0.0; MEOW:MGgn0000097 (94%) |species == rat; score == 724; expect == 0.0; MEOW:ref|NP_112406.1| (94%) |species == Fruitfly; gene == Act88F; score == 717; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Mosquito; gene == LOC15027; score == 716; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Fruitfly; gene == Act87E; score == 716; expect == 0.0; MEOW:FBgn0000046 (92%) |species == Mosquito; gene == LOC15039; score == 715; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Mosquito; gene == LOC22308; score == 715; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act57B; score == 713; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act79B; score == 712; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 703; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mosquito; score == 696; expect == 0.0; MEOW:AGgn0015031 (89%) |species == Mouse; gene == 4732495G21Rik; score == 696; expect == 0.0; MEOW:MGgn0040763 (89%) |species == Mosquito; gene == LOC22175; score == 694; expect == 0.0; MEOW:AGgn0022175 (89%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == rice; score == 690; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (88%) |species == Weed; gene == At3g12110; score == 689; expect == 0.0; MEOW:ATgn0016066 (87%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (87%) |species == Mosquito; score == 688; expect == 0.0; MEOW:AGgn0016397 (88%) |species == Weed; gene == At2g37620; score == 688; expect == 0.0; MEOW:ATgn0008857 (87%) |species == Weed; gene == At3g53750; score == 688; expect == 0.0; MEOW:ATgn0013219 (87%) |species == rice; score == 687; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == Weed; gene == At5g09810; score == 684; expect == 0.0; MEOW:ATgn0022752 (88%) |species == rat; score == 684; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == Weed; gene == At5g59370; score == 677; expect == 0.0; MEOW:ATgn0025880 (86%) |species == Weed; gene == At1g49240; score == 676; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Weed; gene == At3g46520; score == 676; expect == 0.0; MEOW:ATgn0013457 (86%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (87%) |species == rice; score == 674; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == Human; gene == LOC375275; score == 672; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 671; expect == 0.0; MEOW:HUgn0129439 (86%) |species == rice; score == 669; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC375273; score == 668; expect == 0.0; MEOW:HUgn0375273 (86%) |species == Mouse; gene == Actg2; score == 653; expect == 0.0; MEOW:MGgn0000100 (99%) |species == rice; score == 652; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (88%) |species == Human; gene == LOC376953; score == 641; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At3g18780; score == 636; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Weed; gene == At2g42100; score == 632; expect == 0.0; MEOW:ATgn0007667 (78%) |species == Human; gene == LOC343354; score == 611; expect == 2e-175; MEOW:HUgn0343354 (80%) |species == Mosquito; gene == LOC22306; score == 604; expect == 2e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000060 CHR 1 7 DID 1 LocusLink:60 MAP 1 7p15-p12 NAM 1 actin, beta ORG 1 Homo sapiens SYM 1 ACTB ID|HUgn0000060 DID|LocusLink:60 ORG|Homo sapiens RSQ|REFSEQ:NM_001101 RPA|REFPROT:NP_001092 DBA|XM:NM_001101 |XM:NM_001101 |NA:M10277 |NA:AK025375 |NA:AK058019 |NA:AK098751 |NA:AK125561 |NA:AK130062 |NA:AK130157 |NA:BC001301 |NA:BC002409 |NA:BC004251 |NA:BC008633 |NA:BC009636 |NA:BC012854 |NA:BC013380 |NA:BC013835 |NA:BC014401 |NA:BC014861 |NA:BC016045 |NA:BC023204 |NA:BC053988 |NA:K00790 |NA:X00351 |NA:X63432 |NA:none PAC|XP:NP_001092 |XP:NP_001092 SYM|ACTB NAM|actin, beta FNC|beta actin |cell motility ; GO:0006928 REAB|Beta actin is one of six different actin isoforms which have been identified. ACTB |is one of the two nonmuscle cytoskeletal actins. Actins are highly conserved proteins |that are involved in cell motility, structure and integrity. Alpha actins are a |major constituent of the contractile apparatus. CHR|7 PRD|beta cytoskeletal actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=426930 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=60[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118964 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001101 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001101 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=426930 DBL|UNIGENE:Hs.426930 |OMIM:102630 |SNP:60 MAP|7p15-p12 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actb; score == 759; expect == 0.0; MEOW:MGgn0000093 (100%) |species == rat; score == 759; expect == 0.0; MEOW:ref|NP_112406.1| (100%) |species == Human; gene == ACTG1; score == 754; expect == 0.0; MEOW:HUgn0000071 (98%) |species == Mouse; gene == Actg; score == 754; expect == 0.0; MEOW:MGgn0000097 (98%) |species == Mosquito; gene == LOC19055; score == 749; expect == 0.0; MEOW:AGgn0019055 (98%) |species == Worm; gene == act-2; score == 749; expect == 0.0; MEOW:CEgn0000029 (98%) |species == Fruitfly; gene == Act5C; score == 749; expect == 0.0; MEOW:FBgn0000042 (98%) |species == Worm; gene == act-4; score == 747; expect == 0.0; MEOW:CEgn0000031 (97%) |species == Fruitfly; gene == Act42A; score == 747; expect == 0.0; MEOW:FBgn0000043 (97%) |species == Worm; gene == act-1; score == 746; expect == 0.0; MEOW:CEgn0000028 (97%) |species == Worm; gene == act-3; score == 746; expect == 0.0; MEOW:CEgn0000030 (97%) |species == Mosquito; gene == LOC9996; score == 742; expect == 0.0; MEOW:AGgn0009996 (96%) |species == Mosquito; gene == LOC15039; score == 738; expect == 0.0; MEOW:AGgn0015039 (96%) |species == Mosquito; gene == LOC16398; score == 738; expect == 0.0; MEOW:AGgn0016398 (95%) |species == Mosquito; gene == LOC22308; score == 738; expect == 0.0; MEOW:AGgn0022308 (96%) |species == Fruitfly; gene == Act87E; score == 738; expect == 0.0; MEOW:FBgn0000046 (95%) |species == Fruitfly; gene == Act88F; score == 737; expect == 0.0; MEOW:FBgn0000047 (95%) |species == Fruitfly; gene == Act57B; score == 736; expect == 0.0; MEOW:FBgn0000044 (95%) |species == Mosquito; gene == LOC15027; score == 734; expect == 0.0; MEOW:AGgn0015027 (96%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_213540.2| (97%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_215761.2| (97%) |species == Fruitfly; gene == Act79B; score == 726; expect == 0.0; MEOW:FBgn0000045 (94%) |species == Human; gene == ACTA2; score == 724; expect == 0.0; MEOW:HUgn0000059 (94%) |species == Mouse; gene == Acta2; score == 724; expect == 0.0; MEOW:MGgn0000107 (94%) |species == Human; gene == ACTC; score == 722; expect == 0.0; MEOW:HUgn0000070 (94%) |species == Mouse; gene == Actc1; score == 722; expect == 0.0; MEOW:MGgn0000096 (94%) |species == Human; gene == ACTA1; score == 720; expect == 0.0; MEOW:HUgn0000058 (93%) |species == Human; gene == ACTG2; score == 720; expect == 0.0; MEOW:HUgn0000072 (93%) |species == Mouse; gene == Acta1; score == 720; expect == 0.0; MEOW:MGgn0000091 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_037025.1| (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_062085.1| (93%) |species == Mouse; gene == 4732495G21Rik; score == 719; expect == 0.0; MEOW:MGgn0040763 (92%) |species == Worm; gene == act-5; score == 717; expect == 0.0; MEOW:CEgn0000032 (93%) |species == Zfish; gene == acta1; score == 717; expect == 0.0; MEOW:ZFgn0000929 (93%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_226755.1| (92%) |species == rat; score == 713; expect == 0.0; MEOW:ref|XP_213911.2| (95%) |species == Human; gene == LOC345651; score == 711; expect == 0.0; MEOW:HUgn0345651 (91%) |species == Mosquito; score == 710; expect == 0.0; MEOW:AGgn0015031 (91%) |species == Mosquito; gene == LOC22175; score == 708; expect == 0.0; MEOW:AGgn0022175 (92%) |species == Mosquito; score == 706; expect == 0.0; MEOW:AGgn0016397 (91%) |species == rat; score == 706; expect == 0.0; MEOW:ref|XP_215801.2| (92%) |species == Human; gene == LOC375275; score == 703; expect == 0.0; MEOW:HUgn0375275 (92%) |species == Human; gene == LOC129439; score == 702; expect == 0.0; MEOW:HUgn0129439 (91%) |species == Human; gene == LOC375273; score == 699; expect == 0.0; MEOW:HUgn0375273 (91%) |species == rice; score == 697; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (90%) |species == Yeast; gene == ACT1; score == 696; expect == 0.0; MEOW:SGgn0001855 (88%) |species == Weed; gene == At3g12110; score == 695; expect == 0.0; MEOW:ATgn0016066 (90%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (90%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (89%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (89%) |species == rice; score == 690; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (90%) |species == Weed; gene == At5g09810; score == 688; expect == 0.0; MEOW:ATgn0022752 (90%) |species == Weed; gene == At5g59370; score == 684; expect == 0.0; MEOW:ATgn0025880 (89%) |species == Weed; gene == At3g46520; score == 683; expect == 0.0; MEOW:ATgn0013457 (89%) |species == Human; gene == LOC344227; score == 682; expect == 0.0; MEOW:HUgn0344227 (91%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (88%) |species == Weed; gene == At1g49240; score == 681; expect == 0.0; MEOW:ATgn0000853 (87%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (89%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (88%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (87%) |species == rice; score == 678; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (87%) |species == Human; gene == LOC376953; score == 672; expect == 0.0; MEOW:HUgn0376953 (91%) |species == rice; score == 657; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (91%) |species == Human; gene == LOC343354; score == 645; expect == 0.0; MEOW:HUgn0343354 (86%) |species == Weed; gene == At3g18780; score == 642; expect == 0.0; MEOW:ATgn0016446 (86%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Mouse; gene == Actg2; score == 620; expect == 2e-178; MEOW:MGgn0000100 (92%) |species == Mosquito; gene == LOC22306; score == 619; expect == 4e-178; MEOW:AGgn0022306 (92%) } # EOR GENR { RETE|ID 1 HUgn0000061 CHR 1 X DID 1 LocusLink:61 MAP 1 Xq13-q22 NAM 1 actin, beta pseudogene 1 ORG 1 Homo sapiens SYM 1 ACTBP1 ID|HUgn0000061 DID|LocusLink:61 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP1 NAM|actin, beta pseudogene 1 CHR|X MAP|Xq13-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118965 } # EOR GENR { RETE|ID 1 HUgn0000062 CHR 1 5 DID 1 LocusLink:62 MAP 1 5q14.1 NAM 1 actin, beta pseudogene 2 ORG 1 Homo sapiens SYM 1 ACTBP2 ID|HUgn0000062 DID|LocusLink:62 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC035147 SYM|ACTBP2 NAM|actin, beta pseudogene 2 CHR|5 MAP|5q14.1 DBL|SNP:62 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118966 } # EOR GENR { RETE|ID 1 HUgn0000063 CHR 1 18 DID 1 LocusLink:63 MAP 1 18 NAM 1 actin, beta pseudogene 3 ORG 1 Homo sapiens SYM 1 ACTBP3 ID|HUgn0000063 DID|LocusLink:63 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP3 NAM|actin, beta pseudogene 3 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118967 } # EOR GENR { RETE|ID 1 HUgn0000064 CHR 1 5 DID 1 LocusLink:64 MAP 1 5 NAM 1 actin, beta pseudogene 4 ORG 1 Homo sapiens SYM 1 ACTBP4 ID|HUgn0000064 DID|LocusLink:64 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC008695 SYM|ACTBP4 NAM|actin, beta pseudogene 4 CHR|5 MAP|5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118968 } # EOR GENR { RETE|ID 1 HUgn0000065 CHR 1 7 DID 1 LocusLink:65 MAP 1 7q22-qter NAM 1 actin, beta pseudogene 5 ORG 1 Homo sapiens SYM 1 ACTBP5 ID|HUgn0000065 DID|LocusLink:65 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP5 NAM|actin, beta pseudogene 5 CHR|7 MAP|7q22-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118969 } # EOR GENR { RETE|ID 1 HUgn0000066 CHR 1 8 DID 1 LocusLink:66 MAP 1 8 NAM 1 actin, beta pseudogene 6 ORG 1 Homo sapiens SYM 1 ACTBP6 ID|HUgn0000066 DID|LocusLink:66 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP6 NAM|actin, beta pseudogene 6 CHR|8 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119646 } # EOR GENR { RETE|ID 1 HUgn0000067 CHR 1 15 DID 1 LocusLink:67 MAP 1 15q15.1 NAM 1 actin, beta pseudogene 7 ORG 1 Homo sapiens SYM 1 ACTBP7 ID|HUgn0000067 DID|LocusLink:67 CLA|Pseudogene ORG|Homo sapiens DBA|NA:V00479 SYM|ACTBP7 NAM|actin, beta pseudogene 7 CHR|15 MAP|15q15.1 DBL|SNP:67 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681516 } # EOR GENR { RETE|ID 1 HUgn0000068 CHR 1 6 DID 1 LocusLink:68 MAP 1 6q13 NAM 1 actin, beta pseudogene 8 ORG 1 Homo sapiens SYM 1 ACTBP8 ID|HUgn0000068 DID|LocusLink:68 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL139042 |NA:V00481 SYM|ACTBP8 NAM|actin, beta pseudogene 8 SYN|ACTBP2 CHR|6 MAP|6q13 DBL|SNP:68 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681514 } # EOR GENR { RETE|ID 1 HUgn0000069 CHR 1 18 DID 1 LocusLink:69 MAP 1 18 NAM 1 actin, beta pseudogene 9 ORG 1 Homo sapiens SYM 1 ACTBP9 ID|HUgn0000069 DID|LocusLink:69 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP9 NAM|actin, beta pseudogene 9 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:700051 } # EOR GENR { RETE|ID 1 HUgn0000070 CHR 1 15 DID 1 LocusLink:70 MAP 1 15q11-q14 NAM 1 actin, alpha, cardiac muscle ORG 1 Homo sapiens SYM 1 ACTC ID|HUgn0000070 DID|LocusLink:70 ORG|Homo sapiens RSQ|REFSEQ:NM_005159 RPA|REFPROT:NP_005150 DBA|XM:NM_005159 |NA:J00070 |NA:J00071 |NA:J00072 |NA:J00073 |NA:AK056592 |NA:AK129892 |NA:AK129902 |NA:BC009978 |NA:none PAC|XP:NP_005150 SYM|ACTC NAM|actin, alpha, cardiac muscle FNC|actin, alpha, cardiac muscle precursor |regulation of heart rate ; GO:0008016 |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|The protein encoded by this gene belongs to the actin family which is comprised of |six isoforms in vertebrates, including four muscle types and two non-muscle types. |The alpha actins are found in muscle tissues and are a major constituent of the |contractile apparatus. These highly conserved proteins are ubiquitously expressed |in all eukaryotic cells and are involved in various types of cell motility. Nucleotide |substitutions are associated with idiopathic dilated cardiomyopathy and familial |hypertrophic cardiomyopathy. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118127 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=70[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118970 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005159 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005159 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118127 |http://www.geneclinics.org/query?mim=102540 DBL|UNIGENE:Hs.118127 |OMIM:102540 |SNP:70 |UWCM:118970.html MAP|15q11-q14 PHP|Cardiomyopathy, dilated |Cardiomyopathy, familial hypertrophic ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actc1; score == 764; expect == 0.0; MEOW:MGgn0000096 (100%) |species == Human; gene == ACTA1; score == 760; expect == 0.0; MEOW:HUgn0000058 (98%) |species == Mouse; gene == Acta1; score == 760; expect == 0.0; MEOW:MGgn0000091 (98%) |species == Zfish; gene == acta1; score == 760; expect == 0.0; MEOW:ZFgn0000929 (98%) |species == rat; score == 760; expect == 0.0; MEOW:ref|NP_062085.1| (98%) |species == Human; gene == ACTA2; score == 755; expect == 0.0; MEOW:HUgn0000059 (98%) |species == Mouse; gene == Acta2; score == 755; expect == 0.0; MEOW:MGgn0000107 (98%) |species == Human; gene == ACTG2; score == 750; expect == 0.0; MEOW:HUgn0000072 (98%) |species == rat; score == 750; expect == 0.0; MEOW:ref|NP_037025.1| (98%) |species == rat; score == 749; expect == 0.0; MEOW:ref|XP_215801.2| (97%) |species == Worm; gene == act-4; score == 728; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Worm; gene == act-1; score == 727; expect == 0.0; MEOW:CEgn0000028 (94%) |species == Worm; gene == act-2; score == 727; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 727; expect == 0.0; MEOW:CEgn0000030 (94%) |species == Mosquito; gene == LOC19055; score == 725; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Fruitfly; gene == Act5C; score == 725; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 725; expect == 0.0; MEOW:FBgn0000043 (94%) |species == Human; gene == ACTG1; score == 723; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actg; score == 723; expect == 0.0; MEOW:MGgn0000097 (94%) |species == Human; gene == ACTB; score == 722; expect == 0.0; MEOW:HUgn0000060 (94%) |species == Mouse; gene == Actb; score == 722; expect == 0.0; MEOW:MGgn0000093 (94%) |species == rat; score == 722; expect == 0.0; MEOW:ref|NP_112406.1| (94%) |species == Fruitfly; gene == Act87E; score == 718; expect == 0.0; MEOW:FBgn0000046 (93%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Fruitfly; gene == Act88F; score == 716; expect == 0.0; MEOW:FBgn0000047 (93%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Fruitfly; gene == Act57B; score == 715; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Mosquito; gene == LOC15027; score == 714; expect == 0.0; MEOW:AGgn0015027 (93%) |species == Mosquito; gene == LOC15039; score == 714; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 714; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 711; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 701; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mouse; gene == 4732495G21Rik; score == 697; expect == 0.0; MEOW:MGgn0040763 (89%) |species == rice; score == 694; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (89%) |species == rice; score == 694; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Mosquito; score == 693; expect == 0.0; MEOW:AGgn0015031 (89%) |species == Mosquito; gene == LOC22175; score == 693; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Weed; gene == At3g12110; score == 693; expect == 0.0; MEOW:ATgn0016066 (88%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (88%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (88%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (89%) |species == Weed; gene == At5g09810; score == 689; expect == 0.0; MEOW:ATgn0022752 (88%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (88%) |species == Mosquito; score == 688; expect == 0.0; MEOW:AGgn0016397 (88%) |species == rice; score == 684; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == Weed; gene == At5g59370; score == 682; expect == 0.0; MEOW:ATgn0025880 (87%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == rat; score == 682; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == Weed; gene == At3g46520; score == 681; expect == 0.0; MEOW:ATgn0013457 (87%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (88%) |species == Weed; gene == At1g49240; score == 679; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Yeast; gene == ACT1; score == 679; expect == 0.0; MEOW:SGgn0001855 (87%) |species == rice; score == 675; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (86%) |species == Human; gene == LOC375275; score == 671; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 670; expect == 0.0; MEOW:HUgn0129439 (87%) |species == Human; gene == LOC375273; score == 667; expect == 0.0; MEOW:HUgn0375273 (86%) |species == rice; score == 656; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (89%) |species == Mouse; gene == Actg2; score == 649; expect == 0.0; MEOW:MGgn0000100 (98%) |species == Human; gene == LOC376953; score == 640; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At3g18780; score == 637; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Human; gene == LOC343354; score == 608; expect == 2e-174; MEOW:HUgn0343354 (80%) |species == Mosquito; gene == LOC22306; score == 603; expect == 4e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000071 CHR 1 17 DID 1 LocusLink:71 MAP 1 17q25 NAM 1 actin, gamma 1 ORG 1 Homo sapiens SYM 1 ACTG1 ID|HUgn0000071 DID|LocusLink:71 ORG|Homo sapiens RSQ|REFSEQ:NM_001614 RPA|REFPROT:NP_001605 DBA|XM:NM_001614 |NA:M19283 |NA:BC000292 |NA:BC001920 |NA:BC004223 |NA:BC007442 |NA:BC009544 |NA:BC009848 |NA:BC010417 |NA:BC010999 |NA:BC012050 |NA:BC015005 |NA:BC015695 |NA:BC015779 |NA:BC017450 |NA:BC018774 |NA:BC018861 |NA:BC023548 |NA:BC039144 |NA:BC053572 |NA:M16247 |NA:X04098 |NA:none PAC|XP:NP_001605 SYM|ACTG1 NAM|actin, gamma 1 SYN|ACTG |DFNA20 |DFNA26 FNC|actin, gamma 1 propeptide REAB|Actins are highly conserved proteins that are involved in various types of cell motility, |and maintenance of the cytoskeleton. In vertebrates, three main groups of actin |isoforms, alpha, beta and gamma have been identified. The alpha actins are found |in muscle tissues and are a major constituent of the contractile apparatus. The |beta and gamma actins co-exist in most cell types as components of the cytoskeleton, |and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, |is a cytoplasmic actin found in nonmuscle cells. CHR|17 PRD|actin, cytoplasmic 2 |cytoskeletal gamma-actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=14376 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=71[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120536 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001614 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001614 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=14376 DBL|UNIGENE:Hs.14376 |OMIM:102560 |SNP:71 MAP|17q25 PHP|Deafness, autosomal dominant 20/26 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actg; score == 758; expect == 0.0; MEOW:MGgn0000097 (100%) |species == Human; gene == ACTB; score == 754; expect == 0.0; MEOW:HUgn0000060 (98%) |species == Mouse; gene == Actb; score == 754; expect == 0.0; MEOW:MGgn0000093 (98%) |species == rat; score == 754; expect == 0.0; MEOW:ref|NP_112406.1| (98%) |species == Mosquito; gene == LOC19055; score == 749; expect == 0.0; MEOW:AGgn0019055 (98%) |species == Fruitfly; gene == Act5C; score == 749; expect == 0.0; MEOW:FBgn0000042 (98%) |species == Fruitfly; gene == Act42A; score == 748; expect == 0.0; MEOW:FBgn0000043 (97%) |species == Worm; gene == act-4; score == 745; expect == 0.0; MEOW:CEgn0000031 (97%) |species == Worm; gene == act-1; score == 744; expect == 0.0; MEOW:CEgn0000028 (96%) |species == Worm; gene == act-2; score == 744; expect == 0.0; MEOW:CEgn0000029 (97%) |species == Worm; gene == act-3; score == 744; expect == 0.0; MEOW:CEgn0000030 (96%) |species == Mosquito; gene == LOC9996; score == 737; expect == 0.0; MEOW:AGgn0009996 (95%) |species == rat; score == 737; expect == 0.0; MEOW:ref|XP_213540.2| (98%) |species == rat; score == 737; expect == 0.0; MEOW:ref|XP_215761.2| (98%) |species == Fruitfly; gene == Act87E; score == 735; expect == 0.0; MEOW:FBgn0000046 (95%) |species == Mosquito; gene == LOC15039; score == 733; expect == 0.0; MEOW:AGgn0015039 (95%) |species == Mosquito; gene == LOC16398; score == 733; expect == 0.0; MEOW:AGgn0016398 (94%) |species == Mosquito; gene == LOC22308; score == 733; expect == 0.0; MEOW:AGgn0022308 (95%) |species == Fruitfly; gene == Act57B; score == 733; expect == 0.0; MEOW:FBgn0000044 (94%) |species == Fruitfly; gene == Act88F; score == 733; expect == 0.0; MEOW:FBgn0000047 (95%) |species == Mosquito; gene == LOC15027; score == 729; expect == 0.0; MEOW:AGgn0015027 (95%) |species == Fruitfly; gene == Act79B; score == 726; expect == 0.0; MEOW:FBgn0000045 (94%) |species == Human; gene == ACTA2; score == 724; expect == 0.0; MEOW:HUgn0000059 (94%) |species == Human; gene == ACTG2; score == 724; expect == 0.0; MEOW:HUgn0000072 (94%) |species == Mouse; gene == Acta2; score == 724; expect == 0.0; MEOW:MGgn0000107 (94%) |species == rat; score == 724; expect == 0.0; MEOW:ref|NP_037025.1| (94%) |species == Human; gene == ACTC; score == 723; expect == 0.0; MEOW:HUgn0000070 (94%) |species == Mouse; gene == Actc1; score == 723; expect == 0.0; MEOW:MGgn0000096 (94%) |species == Human; gene == ACTA1; score == 721; expect == 0.0; MEOW:HUgn0000058 (93%) |species == Mouse; gene == Acta1; score == 721; expect == 0.0; MEOW:MGgn0000091 (93%) |species == rat; score == 721; expect == 0.0; MEOW:ref|NP_062085.1| (93%) |species == Worm; gene == act-5; score == 720; expect == 0.0; MEOW:CEgn0000032 (93%) |species == Zfish; gene == acta1; score == 718; expect == 0.0; MEOW:ZFgn0000929 (93%) |species == Mouse; gene == 4732495G21Rik; score == 717; expect == 0.0; MEOW:MGgn0040763 (92%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_213911.2| (97%) |species == rat; score == 714; expect == 0.0; MEOW:ref|XP_226755.1| (92%) |species == Human; gene == LOC345651; score == 710; expect == 0.0; MEOW:HUgn0345651 (91%) |species == Mosquito; score == 708; expect == 0.0; MEOW:AGgn0015031 (90%) |species == Mosquito; score == 707; expect == 0.0; MEOW:AGgn0016397 (91%) |species == rat; score == 707; expect == 0.0; MEOW:ref|XP_215801.2| (92%) |species == Mosquito; gene == LOC22175; score == 703; expect == 0.0; MEOW:AGgn0022175 (91%) |species == Human; gene == LOC375275; score == 699; expect == 0.0; MEOW:HUgn0375275 (91%) |species == Human; gene == LOC129439; score == 698; expect == 0.0; MEOW:HUgn0129439 (90%) |species == Yeast; gene == ACT1; score == 696; expect == 0.0; MEOW:SGgn0001855 (89%) |species == rice; score == 696; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (90%) |species == Weed; gene == At3g12110; score == 695; expect == 0.0; MEOW:ATgn0016066 (90%) |species == Human; gene == LOC375273; score == 695; expect == 0.0; MEOW:HUgn0375273 (90%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (90%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (89%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (89%) |species == rice; score == 689; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (90%) |species == Weed; gene == At5g09810; score == 688; expect == 0.0; MEOW:ATgn0022752 (90%) |species == Weed; gene == At5g59370; score == 684; expect == 0.0; MEOW:ATgn0025880 (89%) |species == Weed; gene == At3g46520; score == 683; expect == 0.0; MEOW:ATgn0013457 (89%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (88%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (89%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (87%) |species == Weed; gene == At1g49240; score == 678; expect == 0.0; MEOW:ATgn0000853 (87%) |species == Human; gene == LOC344227; score == 678; expect == 0.0; MEOW:HUgn0344227 (91%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (87%) |species == Human; gene == LOC376953; score == 667; expect == 0.0; MEOW:HUgn0376953 (90%) |species == rice; score == 654; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (90%) |species == Human; gene == LOC343354; score == 641; expect == 0.0; MEOW:HUgn0343354 (85%) |species == Weed; gene == At3g18780; score == 639; expect == 0.0; MEOW:ATgn0016446 (86%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Mouse; gene == Actg2; score == 624; expect == 2e-179; MEOW:MGgn0000100 (93%) |species == Mosquito; gene == LOC22306; score == 615; expect == 7e-177; MEOW:AGgn0022306 (92%) } # EOR GENR { RETE|ID 1 HUgn0000072 CHR 1 2 DID 1 LocusLink:72 MAP 1 2p13.1 NAM 1 actin, gamma 2, smooth muscle, enteric ORG 1 Homo sapiens SYM 1 ACTG2 ID|HUgn0000072 DID|LocusLink:72 ORG|Homo sapiens RSQ|REFSEQ:NM_001615 RPA|REFPROT:NP_001606 DBA|XM:NM_001615 |NA:D00648 |NA:D00649 |NA:D00650 |NA:D00651 |NA:D00652 |NA:D00653 |NA:D00654 |NA:AK124338 |NA:BC012617 |NA:X16940 |NA:none PAC|XP:NP_001606 SYM|ACTG2 NAM|actin, gamma 2, smooth muscle, enteric SYN|ACTE |ACTA3 |ACTSG FNC|actin, gamma 2 propeptide |muscle development ; GO:0007517 REAB|Actins are highly conserved proteins that are involved in various types of cell motility, |and maintenance of the cytoskeleton. In vertebrates, three main groups of actin |isoforms, alpha, beta and gamma have been identified. The alpha actins are found |in muscle tissues and are a major constituent of the contractile apparatus. The |beta and gamma actins co-exist in most cell types as components of the cytoskeleton, |and as mediators of internal cell motility. Actin, gamma 2, encoded by this gene, |is a smooth muscle actin found in enteric tissues. CHR|2 PRD|actin, alpha-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=403989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=72[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125198 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001615 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001615 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=403989 DBL|UNIGENE:Hs.403989 |OMIM:102545 |SNP:72 MAP|2p13.1 ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_037025.1| (100%) |species == Human; gene == ACTA2; score == 755; expect == 0.0; MEOW:HUgn0000059 (99%) |species == Mouse; gene == Acta2; score == 755; expect == 0.0; MEOW:MGgn0000107 (99%) |species == Human; gene == ACTC; score == 750; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Mouse; gene == Actc1; score == 750; expect == 0.0; MEOW:MGgn0000096 (98%) |species == Human; gene == ACTA1; score == 748; expect == 0.0; MEOW:HUgn0000058 (98%) |species == Mouse; gene == Acta1; score == 748; expect == 0.0; MEOW:MGgn0000091 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_062085.1| (98%) |species == Zfish; gene == acta1; score == 745; expect == 0.0; MEOW:ZFgn0000929 (97%) |species == rat; score == 734; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-4; score == 729; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Mosquito; gene == LOC19055; score == 728; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Worm; gene == act-1; score == 728; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-2; score == 728; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 728; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Fruitfly; gene == Act5C; score == 728; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 728; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTG1; score == 724; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actg; score == 724; expect == 0.0; MEOW:MGgn0000097 (94%) |species == Human; gene == ACTB; score == 720; expect == 0.0; MEOW:HUgn0000060 (93%) |species == Mouse; gene == Actb; score == 720; expect == 0.0; MEOW:MGgn0000093 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_112406.1| (93%) |species == Fruitfly; gene == Act87E; score == 719; expect == 0.0; MEOW:FBgn0000046 (92%) |species == Mosquito; gene == LOC9996; score == 718; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Fruitfly; gene == Act57B; score == 718; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act88F; score == 717; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC15027; score == 716; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Mosquito; gene == LOC16398; score == 716; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Mosquito; gene == LOC15039; score == 715; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 715; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 714; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 703; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mouse; gene == 4732495G21Rik; score == 697; expect == 0.0; MEOW:MGgn0040763 (88%) |species == Mosquito; gene == LOC22175; score == 696; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Mosquito; score == 693; expect == 0.0; MEOW:AGgn0015031 (88%) |species == Mosquito; score == 691; expect == 0.0; MEOW:AGgn0016397 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (87%) |species == rice; score == 688; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Weed; gene == At3g12110; score == 686; expect == 0.0; MEOW:ATgn0016066 (88%) |species == rice; score == 686; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (89%) |species == Weed; gene == At2g37620; score == 685; expect == 0.0; MEOW:ATgn0008857 (88%) |species == Weed; gene == At3g53750; score == 685; expect == 0.0; MEOW:ATgn0013219 (88%) |species == rice; score == 684; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == rat; score == 683; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == Weed; gene == At5g09810; score == 681; expect == 0.0; MEOW:ATgn0022752 (88%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == Weed; gene == At5g59370; score == 674; expect == 0.0; MEOW:ATgn0025880 (87%) |species == rice; score == 674; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == Weed; gene == At3g46520; score == 673; expect == 0.0; MEOW:ATgn0013457 (86%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == Weed; gene == At1g49240; score == 672; expect == 0.0; MEOW:ATgn0000853 (85%) |species == rice; score == 672; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (88%) |species == rice; score == 670; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC129439; score == 669; expect == 0.0; MEOW:HUgn0129439 (86%) |species == Human; gene == LOC375275; score == 669; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC375273; score == 666; expect == 0.0; MEOW:HUgn0375273 (86%) |species == Mouse; gene == Actg2; score == 659; expect == 0.0; MEOW:MGgn0000100 (99%) |species == rice; score == 649; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (88%) |species == Human; gene == LOC376953; score == 638; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At2g42100; score == 632; expect == 0.0; MEOW:ATgn0007667 (78%) |species == Weed; gene == At3g18780; score == 632; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Mosquito; gene == LOC22306; score == 607; expect == 2e-174; MEOW:AGgn0022306 (89%) |species == Human; gene == LOC343354; score == 607; expect == 3e-174; MEOW:HUgn0343354 (80%) } # EOR GENR { RETE|ID 1 HUgn0000073 CHR 1 3 DID 1 LocusLink:73 MAP 1 3q22.3 NAM 1 actin, gamma pseudogene 1 ORG 1 Homo sapiens SYM 1 ACTGP1 ID|HUgn0000073 DID|LocusLink:73 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D50658 SYM|ACTGP1 NAM|actin, gamma pseudogene 1 CHR|3 MAP|3q22.3 DBL|SNP:73 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119647 } # EOR GENR { RETE|ID 1 HUgn0000074 CHR 1 Y DID 1 LocusLink:74 MAP 1 Yq11 NAM 1 actin, gamma pseudogene 2 ORG 1 Homo sapiens SYM 1 ACTGP2 ID|HUgn0000074 DID|LocusLink:74 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC007742 SYM|ACTGP2 NAM|actin, gamma pseudogene 2 SYN|ACTL2 CHR|Y MAP|Yq11 DBL|SNP:74 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120537 } # EOR GENR { RETE|ID 1 HUgn0000075 CHR 1 20 DID 1 LocusLink:75 MAP 1 20p13-p13 NAM 1 actin, gamma pseudogene 3 ORG 1 Homo sapiens SYM 1 ACTGP3 ID|HUgn0000075 DID|LocusLink:75 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF196979 |NA:AL031665 |NA:D50657 |NA:X04224 SYM|ACTGP3 NAM|actin, gamma pseudogene 3 SYN|dJ545L17.4 CHR|20 MAP|20p13-p13 DBL|SNP:75 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:636825 } # EOR GENR { RETE|ID 1 HUgn0000076 CHR 1 1 DID 1 LocusLink:76 MAP 1 1p21 NAM 1 actin, gamma pseudogene 4 ORG 1 Homo sapiens SYM 1 ACTGP4 ID|HUgn0000076 DID|LocusLink:76 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP4 NAM|actin, gamma pseudogene 4 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681577 } # EOR GENR { RETE|ID 1 HUgn0000077 CHR 1 1 DID 1 LocusLink:77 MAP 1 1p21 NAM 1 actin, gamma pseudogene 5 ORG 1 Homo sapiens SYM 1 ACTGP5 ID|HUgn0000077 DID|LocusLink:77 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP5 NAM|actin, gamma pseudogene 5 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681583 } # EOR GENR { RETE|ID 1 HUgn0000078 CHR 1 1 DID 1 LocusLink:78 MAP 1 1p21 NAM 1 actin, gamma pseudogene 6 ORG 1 Homo sapiens SYM 1 ACTGP6 ID|HUgn0000078 DID|LocusLink:78 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP6 NAM|actin, gamma pseudogene 6 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681587 } # EOR GENR { RETE|ID 1 HUgn0000079 CHR 1 1 DID 1 LocusLink:79 MAP 1 1p21 NAM 1 actin, gamma pseudogene 7 ORG 1 Homo sapiens SYM 1 ACTGP7 ID|HUgn0000079 DID|LocusLink:79 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP7 NAM|actin, gamma pseudogene 7 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683126 } # EOR GENR { RETE|ID 1 HUgn0000080 CHR 1 1 DID 1 LocusLink:80 MAP 1 1p21 NAM 1 actin, gamma pseudogene 8 ORG 1 Homo sapiens SYM 1 ACTGP8 ID|HUgn0000080 DID|LocusLink:80 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP8 NAM|actin, gamma pseudogene 8 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683128 } # EOR GENR { RETE|ID 1 HUgn0000081 CHR 1 19 DID 1 LocusLink:81 MAP 1 19q13 NAM 1 actinin, alpha 4 ORG 1 Homo sapiens SYM 1 ACTN4 ID|HUgn0000081 DID|LocusLink:81 ORG|Homo sapiens RSQ|REFSEQ:NM_004924 RPA|REFPROT:NP_004915 DBA|XM:NM_004924 |NA:AA478431 |NA:AU118403 |NA:BC005033 |NA:BC015620 |NA:D89980 |NA:U48734 |NA:none PAC|XP:NP_004915 SYM|ACTN4 NAM|actinin, alpha 4 SYN|FSGS |FSGS1 FNC|actinin, alpha 4 |invasive growth ; GO:0007125 |cell motility ; GO:0006928 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is |concentrated in the cytoplasm, and thought to be involved in metastatic processes. | Mutations in this gene have been associated with focal and segmental glomerulosclerosis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443619 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=81[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131821 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004924 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004924 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443619 |http://www.geneclinics.org/query?mim=604638 DBL|UNIGENE:Hs.443619 |OMIM:604638 |SNP:81 |UWCM:131821.html MAP|19q13 PHP|Glomerulosclerosis, focal segmental, 1 ENZ|actin bundling activity ; GO:0003781 |calcium ion binding ; GO:0005509 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin cytoskeleton ; GO:0015629 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Actn4; score == 1778; expect == 0.0; MEOW:MGgn0014762 (97%) |species == rat; score == 1574; expect == 0.0; MEOW:ref|NP_112267.1| (86%) |species == Human; gene == ACTN1; score == 1570; expect == 0.0; MEOW:HUgn0000087 (86%) |species == rat; score == 1427; expect == 0.0; MEOW:ref|XP_214499.2| (78%) |species == Mouse; gene == Actn2; score == 1424; expect == 0.0; MEOW:MGgn0000104 (78%) |species == Human; gene == ACTN2; score == 1422; expect == 0.0; MEOW:HUgn0000088 (78%) |species == Human; gene == ACTN3; score == 1379; expect == 0.0; MEOW:HUgn0000089 (74%) |species == rat; score == 1377; expect == 0.0; MEOW:ref|NP_596915.1| (74%) |species == Mosquito; gene == LOC11796; score == 1285; expect == 0.0; MEOW:AGgn0011796 (69%) |species == Mosquito; score == 1283; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Mosquito; gene == LOC23605; score == 1270; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1266; expect == 0.0; MEOW:FBgn0000667 (67%) |species == Worm; gene == atn-1; score == 1110; expect == 0.0; MEOW:CEgn0000097 (59%) |species == Zfish; gene == sptb; score == 436; expect == 1e-121; MEOW:ZFgn0000936 (36%) } # EOR GENR { RETE|ID 1 HUgn0000082 CHR 1 6 DID 1 LocusLink:82 MAP 1 6p12.3 NAM 1 actin, gamma pseudogene 9 ORG 1 Homo sapiens SYM 1 ACTGP9 ID|HUgn0000082 DID|LocusLink:82 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D50659 SYM|ACTGP9 NAM|actin, gamma pseudogene 9 CHR|6 MAP|6p12.3 DBL|SNP:82 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1391661 } # EOR GENR { RETE|ID 1 HUgn0000083 CHR 1 X DID 1 LocusLink:83 MAP 1 Xp11-q11 NAM 1 actin, gamma pseudogene 10 ORG 1 Homo sapiens SYM 1 ACTGP10 ID|HUgn0000083 DID|LocusLink:83 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL139396 SYM|ACTGP10 NAM|actin, gamma pseudogene 10 SYN|ACTL1 |ACTP1 CHR|X PRD|actin-like 1 |actin-like sequence-1 DBL|OMIM:300020 MAP|Xp11-q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119648 } # EOR GENR { RETE|ID 1 HUgn0000084 CHR 1 3 DID 1 LocusLink:84 MAP 1 3pter-q21 NAM 1 actin-like 4 ORG 1 Homo sapiens SYM 1 ACTL4 ID|HUgn0000084 DID|LocusLink:84 ORG|Homo sapiens SYM|ACTL4 NAM|actin-like 4 CHR|3 MAP|3pter-q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118972 } # EOR GENR { RETE|ID 1 HUgn0000085 CHR 1 21 DID 1 LocusLink:85 MAP 1 21q22.3 NAM 1 actin-like 5 ORG 1 Homo sapiens SYM 1 ACTL5 ID|HUgn0000085 DID|LocusLink:85 ORG|Homo sapiens SYM|ACTL5 NAM|actin-like 5 SYN|ACTFIB CHR|21 MAP|21q22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135326 } # EOR GENR { RETE|ID 1 HUgn0000086 CHR 1 3 DID 1 LocusLink:86 MAP 1 3q27.1 NAM 1 BAF53 ORG 1 Homo sapiens SYM 1 BAF53A ID|HUgn0000086 DID|LocusLink:86 ORG|Homo sapiens RSQ|REFSEQ:NM_004301 |REFSEQ:NM_177989 |REFSEQ:NM_178042 RPA|REFPROT:NP_004292 |REFPROT:NP_817126 |REFPROT:NP_829888 DBA|XM:NM_004301 |XM:NM_177989 |XM:NM_178042 |NA:AB015907 |NA:AB060168 |NA:AB061315 |NA:AF041474 |NA:AK021756 |NA:AK098691 |NA:AL136608 |NA:BC000949 |NA:BC001391 |NA:BC035463 |NA:BC036371 |NA:none PAC|XP:NP_004292 |XP:NP_817126 |XP:NP_829888 SYM|BAF53A NAM|BAF53 SYN|ACTL6 |MGC5382 FNC|BAF53a isoform 1 |BAF53a isoform 2 |response to pest/pathogen/parasite ; GO:0009613 |chromatin modeling ; GO:0006338 |signal transduction ; GO:0007165 REAB|This gene encodes a family member of actin-related proteins (ARPs), which share significant |amino acid sequence identity to conventional actins. Both actins and ARPs have an |actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved |in diverse cellular processes, including vesicular transport, spindle orientation, |nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein |of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally |related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought |to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated |transcriptional repression. Together with beta-actin, it is required for maximal |ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. |This gene was mistakenly referred to as ACTL6, which is a different gene on chromosome |7q22. This gene is immediately adjacent to the gene for mitochondrial ribosomal |protein L47, in a tail-to-tail orientation. Three transcript variants that encode |two different protein isoforms have been described. CHR|3 PRD|hArpN beta |actin-related protein |BRG1-associated factor |BAF complex 53 kDa subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435326 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=86[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838049 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_178042 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_178042 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435326 DBL|UNIGENE:Hs.435326 |OMIM:604958 |SNP:86 MAP|3q27.1 ENZ|chromatin binding ; GO:0003682 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 |nucleus ; GO:0005634 HG|species == Mouse; gene == C79802; score == 871; expect == 0.0; MEOW:MGgn0014245 (98%) |species == Zfish; gene == baf53a; score == 798; expect == 0.0; MEOW:ZFgn0002599 (88%) |species == Human; gene == ACTL6; score == 753; expect == 0.0; MEOW:HUgn0051412 (83%) |species == Mouse; gene == Actl6; score == 751; expect == 0.0; MEOW:MGgn0028364 (83%) |species == rat; score == 732; expect == 0.0; MEOW:ref|XP_213739.2| (76%) |species == rat; score == 662; expect == 0.0; MEOW:ref|XP_342226.1| (80%) |species == Fruitfly; gene == Bap55; score == 487; expect == 3e-138; MEOW:FBgn0025716 (54%) |species == Mosquito; gene == LOC14187; score == 476; expect == 1e-134; MEOW:AGgn0014187 (53%) |species == Worm; gene == ZK616.4; score == 402; expect == 1e-112; MEOW:CEgn0029054 (45%) |species == Weed; gene == At1g18450; score == 365; expect == 2e-101; MEOW:ATgn0006877 (41%) |species == rice; score == 272; expect == 5.0e-73; MEOW:gnl|TIGR|8356.m00329 (38%) |species == rice; score == 255; expect == 8.3e-68; MEOW:gnl|TIGR|8359.m00563 (35%) |species == rice; score == 253; expect == 4.1e-67; MEOW:gnl|TIGR|8353.m00059 (35%) |species == rice; score == 252; expect == 7.0e-67; MEOW:gnl|TIGR|8350.m06884 (35%) |species == Yeast; gene == ACT1; score == 248; expect == 1.3e-66; MEOW:SGgn0001855 (35%) |species == rice; score == 246; expect == 5.0e-65; MEOW:gnl|TIGR|8353.m03220 (35%) |species == rice; score == 246; expect == 3.0e-65; MEOW:gnl|TIGR|8360.m04570 (34%) |species == rice; score == 246; expect == 3.0e-65; MEOW:gnl|TIGR|8362.m02898 (34%) |species == rice; score == 242; expect == 7.3e-64; MEOW:gnl|TIGR|8358.m00555 (34%) |species == rice; score == 241; expect == 1.2e-63; MEOW:gnl|TIGR|8350.m06075 (34%) |species == rice; score == 240; expect == 3.6e-63; MEOW:gnl|TIGR|8360.m05606 (34%) } # EOR GENR { RETE|ID 1 HUgn0000087 CHR 1 14 DID 1 LocusLink:87 MAP 1 14q24.1-q24.2 NAM 1 actinin, alpha 1 ORG 1 Homo sapiens SYM 1 ACTN1 ID|HUgn0000087 DID|LocusLink:87 ORG|Homo sapiens RSQ|REFSEQ:NM_001102 RPA|REFPROT:NP_001093 DBA|XM:NM_001102 |NA:BC003576 |NA:BC004984 |NA:BC015766 |NA:BT007207 |NA:M95178 |NA:X15804 |NA:X55187 |NA:none PAC|XP:NP_001093 SYM|ACTN1 NAM|actinin, alpha 1 FNC|actinin, alpha 1 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform |and maps to the same site as the structurally similar erythroid beta spectrin gene. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119000 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=87[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125187 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001102 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001102 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=119000 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24 DBL|UNIGENE:Hs.119000 |OMIM:102575 |SNP:87 MAP|14q24.1-q24.2 HG|species == rat; score == 1794; expect == 0.0; MEOW:ref|NP_112267.1| (99%) |species == Mouse; gene == Actn4; score == 1573; expect == 0.0; MEOW:MGgn0014762 (86%) |species == Human; gene == ACTN4; score == 1570; expect == 0.0; MEOW:HUgn0000081 (86%) |species == rat; score == 1461; expect == 0.0; MEOW:ref|XP_214499.2| (80%) |species == Mouse; gene == Actn2; score == 1458; expect == 0.0; MEOW:MGgn0000104 (80%) |species == Human; gene == ACTN2; score == 1455; expect == 0.0; MEOW:HUgn0000088 (80%) |species == Human; gene == ACTN3; score == 1440; expect == 0.0; MEOW:HUgn0000089 (78%) |species == Mouse; gene == Actn3; score == 1440; expect == 0.0; MEOW:MGgn0000106 (78%) |species == rat; score == 1439; expect == 0.0; MEOW:ref|NP_596915.1| (78%) |species == Mosquito; gene == LOC11796; score == 1297; expect == 0.0; MEOW:AGgn0011796 (70%) |species == Mosquito; score == 1295; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Fruitfly; gene == Actn; score == 1288; expect == 0.0; MEOW:FBgn0000667 (68%) |species == Mosquito; gene == LOC23605; score == 1281; expect == 0.0; MEOW:AGgn0023605 (68%) |species == Worm; gene == atn-1; score == 1120; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 431; expect == 2e-120; MEOW:ZFgn0000936 (37%) } # EOR GENR { RETE|ID 1 HUgn0000088 CHR 1 1 DID 1 LocusLink:88 MAP 1 1q42-q43 NAM 1 actinin, alpha 2 ORG 1 Homo sapiens SYM 1 ACTN2 ID|HUgn0000088 DID|LocusLink:88 ORG|Homo sapiens RSQ|REFSEQ:NM_001103 RPA|REFPROT:NP_001094 DBA|XM:NM_001103 |NA:AJ249756 |NA:AJ249757 |NA:AJ249758 |NA:AJ249759 |NA:AJ249760 |NA:AJ249761 |NA:AJ249762 |NA:AJ249763 |NA:AJ249764 |NA:AJ249765 |NA:AJ249766 |NA:AJ249767 |NA:AJ249768 |NA:AJ249769 |NA:AJ249770 |NA:AJ249771 |NA:AJ249772 |NA:AJ249773 |NA:AJ249774 |NA:AJ249775 |NA:AJ249776 |NA:M86804 |NA:BC047901 |NA:BC051770 |NA:M86406 |NA:none PAC|XP:NP_001094 SYM|ACTN2 NAM|actinin, alpha 2 FNC|actinin, alpha 2 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that |is expressed in both skeletal and cardiac muscles. Transcript variants resulting |from the use of multiple poly_A sites have been observed. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83672 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=88[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127919 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001103 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001103 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83672 DBL|UNIGENE:Hs.83672 |OMIM:102573 |SNP:88 MAP|1q42-q43 ENZ|structural constituent of muscle ; GO:0008307 |actin binding ; GO:0003779 |calcium ion binding ; GO:0005509 CEL|actin filament ; GO:0005884 HG|species == rat; score == 1716; expect == 0.0; MEOW:ref|XP_214499.2| (99%) |species == Mouse; gene == Actn2; score == 1713; expect == 0.0; MEOW:MGgn0000104 (99%) |species == rat; score == 1456; expect == 0.0; MEOW:ref|NP_112267.1| (80%) |species == Human; gene == ACTN1; score == 1455; expect == 0.0; MEOW:HUgn0000087 (80%) |species == Mouse; gene == Actn3; score == 1449; expect == 0.0; MEOW:MGgn0000106 (81%) |species == rat; score == 1449; expect == 0.0; MEOW:ref|NP_596915.1| (81%) |species == Human; gene == ACTN3; score == 1446; expect == 0.0; MEOW:HUgn0000089 (81%) |species == Human; gene == ACTN4; score == 1422; expect == 0.0; MEOW:HUgn0000081 (78%) |species == Mouse; gene == Actn4; score == 1420; expect == 0.0; MEOW:MGgn0014762 (77%) |species == Mosquito; score == 1272; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Mosquito; gene == LOC11796; score == 1258; expect == 0.0; MEOW:AGgn0011796 (68%) |species == Mosquito; gene == LOC23605; score == 1258; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1256; expect == 0.0; MEOW:FBgn0000667 (66%) |species == Worm; gene == atn-1; score == 1126; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 422; expect == 9e-118; MEOW:ZFgn0000936 (39%) } # EOR GENR { RETE|ID 1 HUgn0000089 CHR 1 11 DID 1 LocusLink:89 MAP 1 11q13-q14 NAM 1 actinin, alpha 3 ORG 1 Homo sapiens SYM 1 ACTN3 ID|HUgn0000089 DID|LocusLink:89 ORG|Homo sapiens RSQ|REFSEQ:NM_001104 RPA|REFPROT:NP_001095 DBA|XM:NM_001104 |NA:AK125851 |NA:M86407 |NA:none PAC|XP:NP_001095 SYM|ACTN3 NAM|actinin, alpha 3 FNC|skeletal muscle specific actinin, alpha 3 REAB|Alpha-actinin is an actin-binding protein with multiple roles in different cell types. |ACTN3 expression is limited to skeletal muscle. It is localized to the Z-disc and |analogous dense bodies, where it helps to anchor the myofibrillar actin filaments CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445037 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=89[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127920 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001104 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001104 DBL|UNIGENE:Hs.445037 |OMIM:102574 |SNP:89 MAP|11q13-q14 PHP|Alpha-actinin-3 deficiency |Elite sprint athletic performance ENZ|structural constituent of muscle ; GO:0008307 |actin binding ; GO:0003779 |calcium ion binding ; GO:0005509 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actn3; score == 1685; expect == 0.0; MEOW:MGgn0000106 (96%) |species == rat; score == 1684; expect == 0.0; MEOW:ref|NP_596915.1| (96%) |species == Human; gene == ACTN2; score == 1446; expect == 0.0; MEOW:HUgn0000088 (81%) |species == rat; score == 1444; expect == 0.0; MEOW:ref|XP_214499.2| (81%) |species == Mouse; gene == Actn2; score == 1441; expect == 0.0; MEOW:MGgn0000104 (80%) |species == Human; gene == ACTN1; score == 1440; expect == 0.0; MEOW:HUgn0000087 (78%) |species == rat; score == 1436; expect == 0.0; MEOW:ref|NP_112267.1| (78%) |species == Mouse; gene == Actn4; score == 1380; expect == 0.0; MEOW:MGgn0014762 (74%) |species == Human; gene == ACTN4; score == 1379; expect == 0.0; MEOW:HUgn0000081 (74%) |species == Mosquito; score == 1255; expect == 0.0; MEOW:AGgn0029589 (68%) |species == Mosquito; gene == LOC11796; score == 1241; expect == 0.0; MEOW:AGgn0011796 (68%) |species == Mosquito; gene == LOC23605; score == 1241; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1237; expect == 0.0; MEOW:FBgn0000667 (66%) |species == Worm; gene == atn-1; score == 1118; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 417; expect == 7e-118; MEOW:ZFgn0000936 (39%) } # EOR GENR { RETE|ID 1 HUgn0000090 CHR 1 2 DID 1 LocusLink:90 MAP 1 2q23-q24 NAM 1 activin A receptor, type I ORG 1 Homo sapiens SYM 1 ACVR1 ID|HUgn0000090 DID|LocusLink:90 ORG|Homo sapiens RSQ|REFSEQ:NM_001105 RPA|REFPROT:NP_001096 DBA|XM:NM_001105 |NA:BC033867 |NA:BC036748 |NA:L02911 |NA:Z22534 |NA:none PAC|XP:NP_001096 SYM|ACVR1 NAM|activin A receptor, type I SYN|ALK2 |SKR1 |ACTRI |ACVRLK2 FNC|activin A type I receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. This gene |encodes activin A type I receptor which signals a particular transcriptional response |in concert with activin type II receptors. CHR|2 PRD|hydroxyalkyl-protein kinase |activin A receptor, type II-like kinase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150402 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=90[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:216986 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001105 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001105 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150402 DBL|UNIGENE:Hs.150402 |OMIM:102576 |SNP:90 ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|2q23-q24 CEL|integral to plasma membrane ; GO:0005887 HG|species == Zfish; gene == alk8; score == 651; expect == 0.0; MEOW:ZFgn0000465 (67%) |species == Zfish; gene == acvrl1; score == 567; expect == 4e-162; MEOW:ZFgn0002643 (60%) |species == Human; gene == ACVRL1; score == 565; expect == 2e-161; MEOW:HUgn0000094 (59%) |species == Mouse; gene == Acvrl1; score == 562; expect == 2e-160; MEOW:MGgn0000113 (61%) |species == rat; score == 558; expect == 3e-159; MEOW:ref|NP_071886.1| (59%) |species == Mosquito; score == 507; expect == 6e-144; MEOW:AGgn0020732 (51%) |species == Fruitfly; gene == sax; score == 505; expect == 2e-143; MEOW:FBgn0003317 (54%) |species == Human; gene == TGFBR1; score == 454; expect == 5e-128; MEOW:HUgn0007046 (57%) |species == rat; score == 454; expect == 5e-128; MEOW:ref|NP_036907.1| (51%) |species == rat; score == 454; expect == 4e-128; MEOW:ref|NP_620790.1| (50%) |species == Mouse; gene == Bmpr1b; score == 451; expect == 6e-127; MEOW:MGgn0000845 (51%) |species == Mouse; gene == Tgfbr1; score == 450; expect == 7e-127; MEOW:MGgn0012286 (57%) |species == Fruitfly; gene == babo; score == 443; expect == 2e-124; MEOW:FBgn0011300 (48%) |species == Mosquito; score == 421; expect == 4e-118; MEOW:AGgn0006764 (50%) |species == Mosquito; score == 415; expect == 2e-116; MEOW:AGgn0002247 (64%) |species == Worm; gene == sma-6; score == 252; expect == 3.9e-67; MEOW:CEgn0002563 (39%) |species == Worm; gene == daf-1; score == 238; expect == 8.2e-63; MEOW:CEgn0000344 (39%) } # EOR GENR { RETE|ID 1 HUgn0000091 CHR 1 12 DID 1 LocusLink:91 MAP 1 12q13 NAM 1 activin A receptor, type IB ORG 1 Homo sapiens SYM 1 ACVR1B ID|HUgn0000091 DID|LocusLink:91 ORG|Homo sapiens RSQ|REFSEQ:NM_004302 |REFSEQ:NM_020327 |REFSEQ:NM_020328 RPA|REFPROT:NP_004293 |REFPROT:NP_064732 |REFPROT:NP_064733 DBA|XM:NM_004302 |XM:NM_020327 |XM:NM_020328 |NA:L31848 |NA:BC000254 |NA:BC034008 |NA:BC040531 |NA:BT007072 |NA:L10125 |NA:L10126 |NA:U14722 |NA:Z22536 |NA:none PAC|XP:NP_004293 |XP:NP_064732 |XP:NP_064733 SYM|ACVR1B NAM|activin A receptor, type IB SYN|ALK4 |SKR2 |ACTRIB |ACVRLK4 FNC|activin A type IB receptor isoform a precursor |activin A type IB receptor isoform b precursor |activin A type IB receptor isoform c precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling, |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. This gene |encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and |alternative polyadenylation result in 3 fully described transcript variants. The |mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant |contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression |has not been confirmed. CHR|12 PRD|activin receptor-like kinase 4 |activin A receptor, type II-like kinase 4 |serine(threonine) protein kinase receptor R2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371974 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=91[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230247 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004302 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004302 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=371974 DBL|UNIGENE:Hs.371974 |OMIM:601300 |SNP:91 ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|12q13 PHP|Pancreatic cancer, somatic CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Acvr1b; score == 931; expect == 0.0; MEOW:MGgn0000110 (98%) |species == rat; score == 905; expect == 0.0; MEOW:ref|XP_235673.2| (98%) |species == Zfish; gene == tarama; score == 764; expect == 0.0; MEOW:ZFgn0000178 (82%) |species == Human; gene == TGFBR1; score == 686; expect == 0.0; MEOW:HUgn0007046 (71%) |species == Human; gene == ACVR1C; score == 639; expect == 0.0; MEOW:HUgn0130399 (66%) |species == Fruitfly; gene == babo; score == 524; expect == 7e-149; MEOW:FBgn0011300 (53%) |species == Mosquito; score == 476; expect == 2e-134; MEOW:AGgn0006764 (54%) |species == Mosquito; score == 451; expect == 3e-127; MEOW:AGgn0002247 (71%) |species == Mosquito; score == 411; expect == 7e-115; MEOW:AGgn0020732 (50%) |species == Mosquito; score == 385; expect == 3e-107; MEOW:AGgn0015057 (59%) |species == Worm; gene == daf-1; score == 245; expect == 5.1e-65; MEOW:CEgn0000344 (42%) |species == Worm; gene == sma-6; score == 237; expect == 1.7e-62; MEOW:CEgn0002563 (34%) } # EOR GENR { RETE|ID 1 HUgn0000092 CHR 1 2 DID 1 LocusLink:92 MAP 1 2q22.2-q23.3 NAM 1 activin A receptor, type II ORG 1 Homo sapiens SYM 1 ACVR2 ID|HUgn0000092 DID|LocusLink:92 ORG|Homo sapiens RSQ|REFSEQ:NM_001616 RPA|REFPROT:NP_001607 DBA|XM:NM_001616 |NA:D31770 |NA:M93415 |NA:X62381 |NA:X63128 |NA:none PAC|XP:NP_001607 SYM|ACVR2 NAM|activin A receptor, type II SYN|ACTRII FNC|activin A type II receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. Type II receptors |are considered to be constitutively active kinases. This gene encodes activin A |type II receptor, and its sequence is 99% identical to that of the mouse type II |receptor gene. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389846 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=92[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132411 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001616 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001616 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.389846 |OMIM:102581 |SNP:92 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|2q22.2-q23.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Acvr2; score == 959; expect == 0.0; MEOW:MGgn0000111 (99%) |species == rat; score == 931; expect == 0.0; MEOW:ref|XP_342432.1| (99%) |species == Human; gene == ACVR2B; score == 701; expect == 0.0; MEOW:HUgn0000093 (67%) |species == Zfish; gene == acvr2b; score == 664; expect == 0.0; MEOW:ZFgn0000184 (62%) |species == Mosquito; gene == LOC17446; score == 448; expect == 4e-126; MEOW:AGgn0017446 (55%) |species == Fruitfly; gene == put; score == 431; expect == 5e-121; MEOW:FBgn0003169 (47%) |species == Worm; gene == daf-4; score == 198; expect == 1.4e-50; MEOW:CEgn0000347 (41%) |species == Worm; gene == daf-1; score == 188; expect == 3.7e-48; MEOW:CEgn0000344 (35%) } # EOR GENR { RETE|ID 1 HUgn0000093 CHR 1 3 DID 1 LocusLink:93 MAP 1 3p22 NAM 1 activin A receptor, type IIB ORG 1 Homo sapiens SYM 1 ACVR2B ID|HUgn0000093 DID|LocusLink:93 ORG|Homo sapiens RSQ|REFSEQ:NM_001106 RPA|REFPROT:NP_001097 DBA|XM:NM_001106 |NA:AB008681 |NA:AF060200 |NA:AF060201 |NA:AF060202 |NA:AF075005 |NA:X77533 |NA:none PAC|XP:NP_001097 SYM|ACVR2B NAM|activin A receptor, type IIB SYN|ACTR-IIB FNC|activin A type IIB receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. Type II receptors |are considered to be constitutively active kinases. This gene encodes activin A |type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand |than activin A type II receptor. CHR|3 PRD|ActR-IIB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23994 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=93[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:358991 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001106 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001106 |http://www.geneclinics.org/query?mim=602730 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.23994 |OMIM:602730 |SNP:93 MAP|3p22 ENZ|ATP binding ; GO:0005524 |protein binding ; GO:0005515 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 986; expect == 0.0; MEOW:ref|XP_217297.1| (98%) |species == Mouse; gene == Acvr2b; score == 977; expect == 0.0; MEOW:MGgn0000112 (94%) |species == Zfish; gene == acvr2b; score == 811; expect == 0.0; MEOW:ZFgn0000184 (77%) |species == Human; gene == ACVR2; score == 701; expect == 0.0; MEOW:HUgn0000092 (67%) |species == Mosquito; gene == LOC17446; score == 436; expect == 8e-123; MEOW:AGgn0017446 (50%) |species == Fruitfly; gene == put; score == 433; expect == 2e-121; MEOW:FBgn0003169 (48%) |species == Worm; gene == daf-4; score == 204; expect == 1.9e-52; MEOW:CEgn0000347 (41%) |species == Worm; gene == daf-1; score == 171; expect == 1.6e-42; MEOW:CEgn0000344 (32%) } # EOR GENR { RETE|ID 1 HUgn0000094 CHR 1 12 DID 1 LocusLink:94 MAP 1 12q11-q14 NAM 1 activin A receptor type II-like 1 ORG 1 Homo sapiens SYM 1 ACVRL1 ID|HUgn0000094 DID|LocusLink:94 ORG|Homo sapiens RSQ|REFSEQ:NM_000020 RPA|REFPROT:NP_000011 DBA|XM:NM_000020 |NA:U77707 |NA:U77708 |NA:U77709 |NA:U77710 |NA:U77711 |NA:U77712 |NA:U77713 |NA:BC042637 |NA:L17075 |NA:Z22533 |NA:none PAC|XP:NP_000011 SYM|ACVRL1 NAM|activin A receptor type II-like 1 SYN|HHT |ALK1 |HHT2 |ORW2 |SKR3 |ALK-1 |ACVRLK1 FNC|activin A receptor type II-like 1 |TGFbeta receptor signaling pathway ; GO:0007179 |protein amino acid phosphorylation ; GO:0006468 |circulation ; GO:0008015 REAB|Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is |a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares |with other type I receptors a high degree of similarity in serine-threonine kinase |subdomains, a glycine- and serine-rich region (called the GS domain) preceding the |kinase domain, and a short C-terminal tail. The protein (sometimes termed ALK1) |shares similar domain structures with 3 other closely related ALK proteins (ALK2, |ALK3, and ALK4) that together form a subfamily of receptor serine/threonine kinases. | ACVRL1 is most highly expressed in human placenta and lung. ACVRL1 deficiency causes |hemorrhagic telangiectasia type 2 (HHT2; MIM 600376) also known as Rendu-Osler-Weber |syndrome 2 (ORW2). CHR|12 PRD|Activin A receptor, type II-like kinase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410104 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=94[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230240 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000020 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000020 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=410104 |http://www.geneclinics.org/query?mim=601284 DBL|UNIGENE:Hs.410104 |OMIM:601284 |SNP:94 |UWCM:230240.html ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|12q11-q14 PHP|Hereditary hemorrhagic telangiectasia-2 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 885; expect == 0.0; MEOW:ref|NP_071886.1| (89%) |species == Mouse; gene == Acvrl1; score == 874; expect == 0.0; MEOW:MGgn0000113 (88%) |species == Human; gene == ACVR1; score == 565; expect == 2e-161; MEOW:HUgn0000090 (59%) |species == Zfish; gene == alk8; score == 555; expect == 1e-159; MEOW:ZFgn0000465 (59%) |species == Zfish; gene == acvrl1; score == 549; expect == 1e-156; MEOW:ZFgn0002643 (61%) |species == Fruitfly; gene == sax; score == 478; expect == 4e-135; MEOW:FBgn0003317 (49%) |species == Mosquito; score == 460; expect == 8e-130; MEOW:AGgn0020732 (47%) |species == Fruitfly; gene == babo; score == 417; expect == 7e-117; MEOW:FBgn0011300 (53%) |species == Mosquito; score == 402; expect == 1e-112; MEOW:AGgn0006764 (56%) |species == Mosquito; score == 396; expect == 1e-110; MEOW:AGgn0002247 (60%) |species == Mosquito; score == 389; expect == 2e-108; MEOW:AGgn0015057 (46%) |species == Worm; gene == sma-6; score == 241; expect == 1.2e-63; MEOW:CEgn0002563 (37%) |species == Worm; gene == daf-1; score == 223; expect == 1.3e-58; MEOW:CEgn0000344 (39%) } # EOR GENR { RETE|ID 1 HUgn0000095 CHR 1 3 DID 1 LocusLink:95 MAP 1 3p21.1 NAM 1 aminoacylase 1 ORG 1 Homo sapiens SYM 1 ACY1 ID|HUgn0000095 DID|LocusLink:95 ORG|Homo sapiens RSQ|REFSEQ:NM_000666 RPA|REFPROT:NP_000657 DBA|XM:NM_000666 |NA:BC000545 |NA:BC003023 |NA:BC014112 |NA:D14524 |NA:D16307 |NA:L07548 |NA:none PAC|XP:NP_000657 SYM|ACY1 NAM|aminoacylase 1 SYN|ACYLASE FNC|aminoacylase 1 |proteolysis and peptidolysis ; GO:0006508 |amino acid metabolism ; GO:0006520 REAB|Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the |hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been |postulated to function in the catabolism and salvage of acylated amino acids. ACY1 |has been assigned to chromosome 3p21.1, a region reduced to homozygosity in small-cell |lung cancer (SCLC), and its expression has been reported to be reduced or undetectable |in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 |is highly homologous to the porcine counterpart, and ACY1 is the first member of |a new family of zinc-binding enzymes. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334707 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=95[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118973 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000666 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000666 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334707 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.334707 |OMIM:104620 |SNP:95 ENZ|EC:3.5.1.14 |aminoacylase activity ; GO:0004046 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|3p21.1 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Acy1; score == 729; expect == 0.0; MEOW:MGgn0000114 (85%) |species == rat; score == 728; expect == 0.0; MEOW:ref|XP_217258.2| (88%) |species == Mosquito; gene == LOC19075; score == 392; expect == 1e-109; MEOW:AGgn0019075 (47%) |species == Fruitfly; gene == CG6465; score == 389; expect == 1e-108; MEOW:FBgn0037818 (49%) |species == Fruitfly; gene == CG6726; score == 382; expect == 2e-106; MEOW:FBgn0039049 (47%) |species == Worm; gene == C10C5.3; score == 378; expect == 4e-105; MEOW:CEgn0004544 (47%) |species == Worm; gene == C06A6.4; score == 375; expect == 3e-104; MEOW:CEgn0004155 (47%) |species == Worm; gene == C10C5.4; score == 374; expect == 5e-104; MEOW:CEgn0004545 (47%) |species == Worm; gene == C10C5.5; score == 372; expect == 2e-103; MEOW:CEgn0004546 (47%) |species == Fruitfly; gene == CG17110; score == 363; expect == 7e-101; MEOW:FBgn0039050 (46%) |species == Fruitfly; gene == CG6733; score == 355; expect == 3.2e-98; MEOW:FBgn0039052 (44%) |species == Fruitfly; gene == CG17109; score == 354; expect == 4.2e-98; MEOW:FBgn0039051 (45%) |species == Weed; gene == At4g38220; score == 349; expect == 2.5e-96; MEOW:ATgn0019492 (44%) |species == Fruitfly; gene == CG6738; score == 346; expect == 1.5e-95; MEOW:FBgn0039053 (44%) |species == rice; score == 329; expect == 4.3e-90; MEOW:gnl|TIGR|8356.m03890 (42%) |species == Weed; gene == At1g44820; score == 320; expect == 1.3e-87; MEOW:ATgn0004193 (40%) |species == Weed; gene == At1g44180; score == 313; expect == 8.4e-86; MEOW:ATgn0004089 (40%) |species == rice; score == 269; expect == 4.0e-72; MEOW:gnl|TIGR|8354.m00981 (40%) } # EOR GENR { RETE|ID 1 HUgn0000096 CHR 1 18 DID 1 LocusLink:96 MAP 1 18 NAM 1 aminoacylase 1-like ORG 1 Homo sapiens SYM 1 ACY1L ID|HUgn0000096 DID|LocusLink:96 ORG|Homo sapiens SYM|ACY1L NAM|aminoacylase 1-like SYN|AN CHR|18 PRD|91184800 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128121 } # EOR GENR { RETE|ID 1 HUgn0000097 CHR 1 14 DID 1 LocusLink:97 MAP 1 14q24.3 NAM 1 acylphosphatase 1, erythrocyte (common) type ORG 1 Homo sapiens SYM 1 ACYP1 ID|HUgn0000097 DID|LocusLink:97 ORG|Homo sapiens DBA|XM:XM_352906 |NA:BC035568 |NA:X84194 |NA:none PAC|XP:XP_352907 SYM|ACYP1 NAM|acylphosphatase 1, erythrocyte (common) type SYN|ACYPE REAB|Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the |carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called |muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue |localization CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=18573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=97[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:638808 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC035568 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC035568 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=18573 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 DBL|UNIGENE:Hs.18573 |OMIM:600875 |SNP:97 ENZ|EC:3.6.1.7 |acylphosphatase activity ; GO:0003998 |hydrolase activity ; GO:0016787 MAP|14q24.3 FNC|phosphate metabolism ; GO:0006796 HG|species == Mouse; gene == Acyp1; score == 189; expect == 1.0e-49; MEOW:MGgn0016182 (90%) |species == rat; score == 185; expect == 1.1e-47; MEOW:ref|XP_216757.2| (87%) } # EOR GENR { RETE|ID 1 HUgn0000098 CHR 1 2 DID 1 LocusLink:98 MAP 1 2p16.2 NAM 1 acylphosphatase 2, muscle type ORG 1 Homo sapiens SYM 1 ACYP2 ID|HUgn0000098 DID|LocusLink:98 ORG|Homo sapiens RSQ|REFSEQ:NM_138448 RPA|REFPROT:NP_612457 DBA|XM:NM_138448 |NA:BC012290 |NA:BF739886 |NA:X84195 |NA:none PAC|XP:NP_612457 SYM|ACYP2 NAM|acylphosphatase 2, muscle type SYN|ACYM |ACYP FNC|muscle-type acylphosphatase 2 REAB|Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane |pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal |muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte |acylphosphatase on the basis of their tissue localization. This gene encodes the |muscle-type isoform (MT). An increase of the MT isoform is associated with muscle |differentiation. CHR|2 PRD|acylphosphate phosphohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433071 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=98[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:304769 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138448 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138448 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 DBL|UNIGENE:Hs.433071 |OMIM:102595 |SNP:98 ENZ|EC:3.6.1.7 MAP|2p16.2 HG|species == Mouse; gene == Acyp2; score == 170; expect == 1.2e-43; MEOW:MGgn0019516 (88%) |species == rat; score == 129; expect == 3.2e-31; MEOW:ref|XP_216757.2| (60%) } # EOR GENR { RETE|ID 1 HUgn0000099 CHR 1 19 DID 1 LocusLink:99 MAP 1 19cen-q13.2 NAM 1 Alzheimer disease 2 (APOE*E4-associated, late onset) ORG 1 Homo sapiens SYM 1 AD2 ID|HUgn0000099 DID|LocusLink:99 ORG|Homo sapiens SYM|AD2 NAM|Alzheimer disease 2 (APOE*E4-associated, late onset) CHR|19 DBL|OMIM:104310 MAP|19cen-q13.2 PHP|Alzheimer disease-2, late onset URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118748 } # EOR GENR { RETE|ID 1 HUgn0000100 CHR 1 20 DID 1 LocusLink:100 MAP 1 20q12-q13.11 NAM 1 adenosine deaminase ORG 1 Homo sapiens SYM 1 ADA ID|HUgn0000100 DID|LocusLink:100 ORG|Homo sapiens RSQ|REFSEQ:NM_000022 RPA|REFPROT:NP_000013 DBA|XM:NM_000022 |NA:M13792 |NA:Z97053 |NA:AL832305 |NA:BC007678 |NA:BC040226 |NA:K00509 |NA:K02567 |NA:X02994 |NA:none PAC|XP:NP_000013 SYM|ADA NAM|adenosine deaminase FNC|adenosine deaminase |nucleotide metabolism ; GO:0009117 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 |purine ribonucleoside monophosphate biosynthesis ; GO:0009168 REAB|Adenosine deaminase catalyzes the hydrolysis of adenosine to inosine. ADA deficiency |causes one form of severe combined immunodeficiency disease (SCID), in which there |is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased |production of immunoglobulins. CHR|20 PRD|adenosine aminohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407135 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=100[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119649 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000022 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000022 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=407135 |http://www.geneclinics.org/query?mim=102700 |http://www.ncbi.nlm.nih.gov/disease/SCImm.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.407135 |OMIM:102700 |SNP:100 ENZ|EC:3.5.4.4 |adenosine deaminase activity ; GO:0004000 |hydrolase activity ; GO:0016787 MAP|20q12-q13.11 PHP|Hemolytic anemia due to ADA excess |Severe combined immunodeficiency due to ADA deficiency HG|species == rat; score == 633; expect == 0.0; MEOW:ref|NP_569083.1| (85%) |species == Mouse; gene == Ada; score == 618; expect == 1e-177; MEOW:MGgn0000118 (83%) |species == Worm; gene == C06G3.5a; score == 243; expect == 1.1e-64; MEOW:CEgn0031625 (39%) |species == Worm; gene == C06G3.5b; score == 243; expect == 1.1e-64; MEOW:CEgn0031626 (39%) |species == ecoli; score == 155; expect == 3.8e-38; MEOW:ref|NP_416140.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0000101 CHR 1 10 DID 1 LocusLink:101 MAP 1 10q26.3 NAM 1 a disintegrin and metalloproteinase domain 8 ORG 1 Homo sapiens SYM 1 ADAM8 ID|HUgn0000101 DID|LocusLink:101 ORG|Homo sapiens RSQ|REFSEQ:NM_001109 RPA|REFPROT:NP_001100 DBA|XM:NM_001109 |NA:D26579 |NA:none PAC|XP:NP_001100 SYM|ADAM8 NAM|a disintegrin and metalloproteinase domain 8 SYN|MS2 |CD156 FNC|a disintegrin and metalloproteinase domain 8 precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Members of ADAM family are cell surface proteins with a unique structure possessing |both potential adhesion and protease domains. The extracellular region of ADAM8 |shows significant amino acid sequence homology to hemorrhagic snake venom proteins, |including the metalloprotease and disintegrin domains. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=86947 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=101[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001109 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001109 DBL|UNIGENE:Hs.86947 |OMIM:602267 |SNP:101 |PROW:328103614 MAP|10q26.3 ENZ|zinc ion binding ; GO:0008270 |metalloendopeptidase activity ; GO:0004222 |hydrolase activity ; GO:0016787 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Adam8; score == 908; expect == 0.0; MEOW:MGgn0000135 (64%) |species == rat; score == 889; expect == 0.0; MEOW:ref|XP_219470.2| (63%) |species == Human; gene == ADAM12; score == 486; expect == 2e-137; MEOW:HUgn0008038 (39%) |species == Human; gene == ADAM28; score == 482; expect == 4e-136; MEOW:HUgn0010863 (41%) |species == Human; gene == ADAM19; score == 467; expect == 1e-131; MEOW:HUgn0008728 (40%) |species == Human; gene == ADAM33; score == 450; expect == 2e-126; MEOW:HUgn0080332 (41%) |species == Mosquito; gene == LOC22724; score == 308; expect == 3.5e-84; MEOW:AGgn0022724 (32%) |species == Fruitfly; gene == mmd; score == 297; expect == 1.2e-80; MEOW:FBgn0041109 (31%) |species == Mosquito; gene == LOC3886; score == 292; expect == 5.4e-79; MEOW:AGgn0003886 (35%) |species == Mosquito; gene == LOC5363; score == 282; expect == 6.6e-76; MEOW:AGgn0005363 (30%) |species == Mosquito; gene == LOC19737; score == 280; expect == 3.3e-75; MEOW:AGgn0019737 (33%) |species == Worm; gene == unc-71; score == 210; expect == 2.1e-54; MEOW:CEgn0002955 (28%) } # EOR GENR { RETE|ID 1 HUgn0000102 CHR 1 15 DID 1 LocusLink:102 MAP 1 15q2 NAM 1 a disintegrin and metalloproteinase domain 10 ORG 1 Homo sapiens SYM 1 ADAM10 ID|HUgn0000102 DID|LocusLink:102 ORG|Homo sapiens RSQ|REFSEQ:NM_001110 RPA|REFPROT:NP_001101 DBA|XM:NM_001110 |NA:AF009615 |NA:Z48579 |NA:none PAC|XP:NP_001101 SYM|ADAM10 NAM|a disintegrin and metalloproteinase domain 10 SYN|kuz |MADM |kuzbanian FNC|a disintegrin and metalloprotease domain 10 |proteolysis and peptidolysis ; GO:0006508 |cell-cell signaling ; GO:0007267 REAB|Members of ADAM family are cell surface proteins with a unique structure possessing |both potential adhesion and protease domains. ADAM10 possesses many of the properties |of a TNF-processing enzyme CHR|15 PRD|a disintegrin and metalloprotease domain 10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172028 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=102[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5952565 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001110 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24505 DBL|UNIGENE:Hs.172028 |OMIM:602192 |SNP:102 MAP|15q2 ENZ|zinc ion binding ; GO:0008270 |metalloendopeptidase activity ; GO:0004222 |hydrolase activity ; GO:0016787 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adam10; score == 1414; expect == 0.0; MEOW:MGgn0000119 (95%) |species == rat; score == 1243; expect == 0.0; MEOW:ref|XP_217197.2| (96%) |species == Mosquito; gene == LOC12370; score == 569; expect == 2e-162; MEOW:AGgn0012370 (42%) |species == Worm; gene == sup-17; score == 504; expect == 9e-143; MEOW:CEgn0002759 (38%) |species == Fruitfly; gene == CG1964; score == 464; expect == 6e-131; MEOW:FBgn0039688 (49%) |species == Fruitfly; gene == kuz; score == 453; expect == 1e-127; MEOW:FBgn0015954 (42%) |species == Human; gene == ADAM17; score == 256; expect == 2.5e-68; MEOW:HUgn0006868 (29%) } # EOR GENR { RETE|ID 1 HUgn0000103 CHR 1 1 DID 1 LocusLink:103 MAP 1 1q21.1-q21.2 NAM 1 adenosine deaminase, RNA-specific ORG 1 Homo sapiens SYM 1 ADAR ID|HUgn0000103 DID|LocusLink:103 ORG|Homo sapiens RSQ|REFSEQ:NM_001111 |REFSEQ:NM_015840 |REFSEQ:NM_015841 RPA|REFPROT:NP_001102 |REFPROT:NP_056655 |REFPROT:NP_056656 DBA|XM:NM_001111 |XM:NM_015840 |XM:NM_015841 |NA:U75503 |NA:BC017853 |NA:BC038227 |NA:BX538232 |NA:BX640741 |NA:U10439 |NA:U18121 |NA:X79448 |NA:X79449 |NA:X98559 |NA:none PAC|XP:NP_001102 |XP:NP_056655 |XP:NP_056656 SYM|ADAR NAM|adenosine deaminase, RNA-specific SYN|DSH |ADAR1 |DRADA |DSRAD FNC|adenosine deaminase, RNA-specific isoform ADAR-a |adenosine deaminase, RNA-specific isoform ADAR-b |adenosine deaminase, RNA-specific isoform ADAR-c |antimicrobial humoral response (sensu Invertebrata) ; GO:0006960 REAB|This gene encodes the enzyme responsible for RNA editing by site-specific deamination |of adenosines. This enzyme destabilizes double stranded RNA through conversion |of adenosine to inosine. Alternative splicing of this gene results in several transcript |variants, three which are characterized by deletion of exons 6 and/or 7. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7957 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=103[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439344 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001111 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001111 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7957 DBL|UNIGENE:Hs.7957 |OMIM:601059 |SNP:103 MAP|1q21.1-q21.2 PHP|Dyschromatosis symmetrica hereditaria ENZ|double-stranded RNA adenosine deaminase activity ; GO:0003726 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1709; expect == 0.0; MEOW:ref|NP_112268.1| (75%) |species == Mouse; gene == Adar; score == 1679; expect == 0.0; MEOW:MGgn0014463 (74%) |species == Zfish; gene == adar; score == 850; expect == 0.0; MEOW:ZFgn0000858 (46%) |species == Human; gene == ADARB1; score == 262; expect == 1.0e-69; MEOW:HUgn0000104 (35%) |species == Human; gene == ADARB2; score == 250; expect == 4.1e-66; MEOW:HUgn0000105 (35%) |species == Fruitfly; gene == Adar; score == 246; expect == 2.9e-65; MEOW:FBgn0026086 (29%) |species == Mosquito; gene == LOC8096; score == 243; expect == 3.6e-64; MEOW:AGgn0008096 (35%) |species == Mosquito; score == 243; expect == 3.6e-64; MEOW:AGgn0027604 (35%) |species == Weed; gene == At1g01760; score == 142; expect == 1.9e-34; MEOW:ATgn0002412 (34%) } # EOR GENR { RETE|ID 1 HUgn0000104 CHR 1 21 DID 1 LocusLink:104 MAP 1 21q22.3 NAM 1 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) ORG 1 Homo sapiens SYM 1 ADARB1 ID|HUgn0000104 DID|LocusLink:104 ORG|Homo sapiens RSQ|REFSEQ:NM_001112 |REFSEQ:NM_015833 |REFSEQ:NM_015834 RPA|REFPROT:NP_001103 |REFPROT:NP_056648 |REFPROT:NP_056649 DBA|XM:NM_001112 |XM:NM_015833 |XM:NM_015834 |NA:Z95973 |NA:Z95974 |NA:Z95975 |NA:AF001042 |NA:AF525422 |NA:AF533142 |NA:AY082339 |NA:AY135659 |NA:U76420 |NA:U76421 |NA:U76422 |NA:U82120 |NA:U82121 |NA:X99227 |NA:X99383 |NA:none PAC|XP:NP_001103 |XP:NP_056648 |XP:NP_056649 SYM|ADARB1 NAM|adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) SYN|RED1 |ADAR2 |DRABA2 |DRADA2 FNC|RNA-specific adenosine deaminase B1 isoform DRABA2b |RNA-specific adenosine deaminase B1 isoform DRADA2a |RNA-specific adenosine deaminase B1 isoform DRADA2c |RNA processing ; GO:0006396 |central nervous system development ; GO:0007417 REAB|This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor |subunit B by site-specific deamination of adenosines. Alternative splicing of this |gene results in several transcript variants, three which have been characterized |by the presence or absence of an ALU cassette insert and a short or long C-terminal |region. CHR|21 PRD|RNA editase |human dsRNA adenosine deaminase DRADA2b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=148822 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=104[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929206 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015833 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015833 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24556 DBL|UNIGENE:Hs.148822 |OMIM:601218 |SNP:104 MAP|21q22.3 ENZ|adenosine deaminase activity ; GO:0004000 |double-stranded RNA binding ; GO:0003725 |RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 HG|species == Human; gene == ADARB2; score == 686; expect == 0.0; MEOW:HUgn0000105 (52%) |species == rat; score == 674; expect == 0.0; MEOW:ref|NP_579836.1| (54%) |species == Mouse; gene == Adar3; score == 668; expect == 0.0; MEOW:MGgn0039507 (54%) |species == Zfish; gene == adarb1; score == 563; expect == 4e-161; MEOW:ZFgn0000861 (74%) |species == Fruitfly; gene == Adar; score == 486; expect == 2e-137; MEOW:FBgn0026086 (44%) |species == Mosquito; score == 472; expect == 2e-133; MEOW:AGgn0027604 (47%) |species == Mosquito; gene == LOC8096; score == 469; expect == 1e-132; MEOW:AGgn0008096 (46%) |species == Weed; gene == At1g01760; score == 137; expect == 1.0e-32; MEOW:ATgn0002412 (33%) } # EOR GENR { RETE|ID 1 HUgn0000105 CHR 1 10 DID 1 LocusLink:105 MAP 1 10p15.3 NAM 1 adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) ORG 1 Homo sapiens SYM 1 ADARB2 ID|HUgn0000105 DID|LocusLink:105 ORG|Homo sapiens RSQ|REFSEQ:NM_018702 RPA|REFPROT:NP_061172 DBA|XM:NM_018702 |NA:AF034837 |NA:AK055107 |NA:BC047443 PAC|XP:NP_061172 SYM|ADARB2 NAM|adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) SYN|RED2 |ADAR3 |hRED2 FNC|adenosine deaminase, RNA-specific, B2 |RNA processing ; GO:0006396 CHR|10 PRD|homolog of rat BLUE |double-stranded RNA specific adenosine deaminase |adenosine deaminase, RNA-specific, B2 (RED1 homolog rat) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=192731 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=105[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929209 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_018702 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_018702 DBL|UNIGENE:Hs.192731 |OMIM:602065 |SNP:105 MAP|10p15.3 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Adar3; score == 1135; expect == 0.0; MEOW:MGgn0039507 (82%) |species == rat; score == 1133; expect == 0.0; MEOW:ref|NP_579836.1| (82%) |species == Human; gene == ADARB1; score == 686; expect == 0.0; MEOW:HUgn0000104 (52%) |species == Zfish; gene == adarb1; score == 436; expect == 7e-123; MEOW:ZFgn0000861 (56%) |species == Mosquito; score == 420; expect == 9e-118; MEOW:AGgn0027604 (39%) |species == Mosquito; gene == LOC8096; score == 419; expect == 2e-117; MEOW:AGgn0008096 (39%) |species == Fruitfly; gene == Adar; score == 402; expect == 2e-112; MEOW:FBgn0026086 (38%) |species == Weed; gene == At1g01760; score == 135; expect == 3.0e-32; MEOW:ATgn0002412 (31%) } # EOR GENR { RETE|ID 1 HUgn0000106 CHR 1 6 DID 1 LocusLink:106 MAP 1 6 NAM 1 adenosine deaminase complexing protein 1 ORG 1 Homo sapiens SYM 1 ADCP1 ID|HUgn0000106 DID|LocusLink:106 ORG|Homo sapiens SYM|ADCP1 NAM|adenosine deaminase complexing protein 1 CHR|6 DBL|OMIM:102710 MAP|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118975 } # EOR GENR { RETE|ID 1 HUgn0000107 CHR 1 7 DID 1 LocusLink:107 MAP 1 7p13-p12 NAM 1 adenylate cyclase 1 (brain) ORG 1 Homo sapiens SYM 1 ADCY1 ID|HUgn0000107 DID|LocusLink:107 ORG|Homo sapiens RSQ|REFSEQ:NM_021116 RPA|REFPROT:NP_066939 DBA|XM:NM_021116 |XM:NM_021116 |NA:AF497515 |NA:AK024415 |NA:AK055343 |NA:AK095518 |NA:AK095665 |NA:AL707720 |NA:AW956248 |NA:BC036858 |NA:BC041473 |NA:BU181704 |NA:L05500 |NA:none PAC|XP:NP_066939 |XP:NP_066939 SYM|ADCY1 NAM|adenylate cyclase 1 (brain) FNC|brain adenylate cyclase 1 REAB|This gene encodes a form of adenylate cyclase expressed in brain. A similar protein in mouse is involved in pattern formation of the brain. CHR|7 PRD|adenyl cyclase |ATP pyrophosphate-lyase |adenylate cyclase type I |3',5'-cyclic AMP synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=259768 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=107[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134407 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021116 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021116 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=259768 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.259768 |OMIM:103072 |SNP:107 ENZ|EC:4.6.1.1 MAP|7p13-p12 HG|species == rat; score == 1704; expect == 0.0; MEOW:ref|XP_223616.2| (83%) |species == Mosquito; score == 736; expect == 0.0; MEOW:AGgn0011824 (47%) |species == Human; gene == ADCY5; score == 712; expect == 0.0; MEOW:HUgn0000111 (44%) |species == Mouse; gene == Adcy6; score == 696; expect == 0.0; MEOW:MGgn0000150 (41%) |species == Human; gene == ADCY6; score == 695; expect == 0.0; MEOW:HUgn0000112 (43%) |species == Human; gene == ADCY8; score == 644; expect == 0.0; MEOW:HUgn0000114 (41%) |species == Mouse; gene == Adcy8; score == 644; expect == 0.0; MEOW:MGgn0000152 (42%) |species == Mouse; gene == Adcy2; score == 600; expect == 9e-172; MEOW:MGgn0000146 (37%) |species == Human; gene == ADCY2; score == 595; expect == 5e-170; MEOW:HUgn0000108 (37%) |species == Mouse; gene == Adcy7; score == 580; expect == 1e-165; MEOW:MGgn0000151 (38%) |species == Human; gene == ADCY4; score == 576; expect == 2e-164; MEOW:HUgn0196883 (39%) |species == Human; gene == ADCY7; score == 575; expect == 4e-164; MEOW:HUgn0000113 (39%) |species == Mouse; gene == Adcy4; score == 572; expect == 4e-163; MEOW:MGgn0000148 (39%) |species == Fruitfly; gene == rut; score == 459; expect == 6e-129; MEOW:FBgn0003301 (48%) |species == Fruitfly; gene == CG32158; score == 381; expect == 6e-106; MEOW:FBgn0052158 (44%) |species == Worm; gene == acy-4; score == 280; expect == 2.1e-75; MEOW:CEgn0028050 (37%) |species == Worm; gene == acy-2; score == 231; expect == 1.2e-60; MEOW:CEgn0000035 (40%) } # EOR GENR { RETE|ID 1 HUgn0000108 CHR 1 5 DID 1 LocusLink:108 MAP 1 5p15.3 NAM 1 adenylate cyclase 2 (brain) ORG 1 Homo sapiens SYM 1 ADCY2 ID|HUgn0000108 DID|LocusLink:108 ORG|Homo sapiens RSQ|REFSEQ:NM_020546 RPA|REFPROT:NP_065433 DBA|XM:NM_020546 |NA:AB028983 |NA:AF070583 |NA:AF410885 |NA:BE677757 |NA:BK000372 |NA:L21993 |NA:X74210 |NA:none PAC|XP:NP_065433 SYM|ADCY2 NAM|adenylate cyclase 2 (brain) SYN|HBAC2 |KIAA1060 FNC|adenylate cyclase 2 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes a member of the family of adenylate cyclases, which are membrane-associated |enzymes that catalyze the formation of the secondary messenger cyclic adenosine |monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated |by the G protein beta and gamma subunit complex. It is expressed in brain. CHR|5 PRD|adenylyl cyclase 2 |adenylate cyclase II |ATP pyrophosphate-lyase |type II adenylate cyclase |3',5'-cyclic AMP synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414591 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=108[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020546 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020546 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.414591 |OMIM:103071 |SNP:108 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|5p15.3 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 2014; expect == 0.0; MEOW:ref|NP_112269.1| (95%) |species == Mouse; gene == Adcy2; score == 1983; expect == 0.0; MEOW:MGgn0000146 (94%) |species == Human; gene == ADCY4; score == 1112; expect == 0.0; MEOW:HUgn0196883 (56%) |species == Human; gene == ADCY7; score == 1055; expect == 0.0; MEOW:HUgn0000113 (55%) |species == Mosquito; gene == LOC17563; score == 616; expect == 2e-176; MEOW:AGgn0017563 (39%) |species == Mosquito; score == 560; expect == 1e-159; MEOW:AGgn0011824 (40%) |species == Mosquito; score == 540; expect == 2e-153; MEOW:AGgn0006240 (33%) |species == Mosquito; score == 532; expect == 3e-151; MEOW:AGgn0028531 (34%) |species == Mosquito; gene == LOC3469; score == 513; expect == 3e-145; MEOW:AGgn0003469 (33%) |species == Worm; gene == acy-4; score == 489; expect == 4e-138; MEOW:CEgn0028050 (36%) |species == Fruitfly; gene == Ac76E; score == 384; expect == 2e-106; MEOW:FBgn0004852 (39%) |species == Fruitfly; gene == rut; score == 353; expect == 6.4e-97; MEOW:FBgn0003301 (44%) |species == Fruitfly; gene == CG32158; score == 349; expect == 4.3e-96; MEOW:FBgn0052158 (36%) |species == Fruitfly; gene == ACXD; score == 320; expect == 3.0e-87; MEOW:FBgn0040507 (28%) |species == Fruitfly; gene == ACXB; score == 310; expect == 3.9e-84; MEOW:FBgn0040509 (27%) } # EOR GENR { RETE|ID 1 HUgn0000109 CHR 1 2 DID 1 LocusLink:109 MAP 1 2p24-p22 NAM 1 adenylate cyclase 3 ORG 1 Homo sapiens SYM 1 ADCY3 ID|HUgn0000109 DID|LocusLink:109 ORG|Homo sapiens RSQ|REFSEQ:NM_004036 RPA|REFPROT:NP_004027 DBA|XM:NM_004036 |NA:AB011083 |NA:AF033861 |NA:AF087963 |NA:AK027857 |NA:AK075424 |NA:AK095173 |NA:AK122926 |NA:none PAC|XP:NP_004027 SYM|ADCY3 NAM|adenylate cyclase 3 SYN|AC3 |KIAA0511 FNC|adenylate cyclase 3 |olfaction ; GO:0007608 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes |the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). |This protein appears to be widely expressed in various human tissues and may be |involved in a number of physiological and pathophysiological metabolic processes. CHR|2 PRD|ATP pyrophosphate-lyase |adenylyl cyclase, type III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=188402 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=109[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371616 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004036 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004036 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0511 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26 DBL|UNIGENE:Hs.188402 |OMIM:600291 |SNP:109 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|2p24-p22 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adcy3; score == 1915; expect == 0.0; MEOW:MGgn0000147 (94%) |species == rat; score == 1915; expect == 0.0; MEOW:ref|NP_570135.1| (94%) |species == Mosquito; gene == LOC3469; score == 692; expect == 0.0; MEOW:AGgn0003469 (38%) |species == Human; gene == ADCY8; score == 652; expect == 0.0; MEOW:HUgn0000114 (36%) |species == Fruitfly; gene == Ac3; score == 645; expect == 0.0; MEOW:FBgn0023416 (37%) |species == Human; gene == ADCY5; score == 596; expect == 2e-170; MEOW:HUgn0000111 (37%) |species == Human; gene == ADCY6; score == 591; expect == 9e-169; MEOW:HUgn0000112 (37%) |species == Human; gene == ADCY2; score == 545; expect == 4e-155; MEOW:HUgn0000108 (33%) |species == Worm; gene == acy-4; score == 275; expect == 6.9e-74; MEOW:CEgn0028050 (46%) } # EOR GENR { RETE|ID 1 HUgn0000111 CHR 1 3 DID 1 LocusLink:111 MAP 1 3q13.2-q21 NAM 1 adenylate cyclase 5 ORG 1 Homo sapiens SYM 1 ADCY5 ID|HUgn0000111 DID|LocusLink:111 ORG|Homo sapiens RSQ|REFSEQ:NM_183357 RPA|REFPROT:NP_899200 DBA|XM:XM_351567 |NA:AF497517 |NA:AK093840 |NA:AK098381 |NA:AK124691 |NA:BK000371 |NA:BX647739 |NA:U65473 |NA:none PAC|XP:XP_351568 SYM|ADCY5 NAM|adenylate cyclase 5 FNC|adenylate cyclase 5 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 CHR|3 PRD|adenylate cyclase, type V URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9572 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=477365 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=111[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371619 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183357 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183357 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.9572 |UNIGENE:Hs.477365 |OMIM:600293 |SNP:111 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|3q13.2-q21 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1871; expect == 0.0; MEOW:ref|NP_072122.1| (97%) |species == Human; gene == ADCY6; score == 1408; expect == 0.0; MEOW:HUgn0000112 (72%) |species == Mouse; gene == Adcy6; score == 1406; expect == 0.0; MEOW:MGgn0000150 (71%) |species == Mosquito; gene == LOC17563; score == 790; expect == 0.0; MEOW:AGgn0017563 (48%) |species == Mosquito; score == 711; expect == 0.0; MEOW:AGgn0011824 (46%) |species == Fruitfly; gene == Ac3; score == 512; expect == 2e-145; MEOW:FBgn0023416 (35%) |species == Fruitfly; gene == CG32158; score == 485; expect == 6e-137; MEOW:FBgn0052158 (48%) |species == Fruitfly; gene == rut; score == 422; expect == 1e-117; MEOW:FBgn0003301 (49%) |species == Worm; gene == acy-4; score == 328; expect == 8.9e-90; MEOW:CEgn0028050 (51%) } # EOR GENR { RETE|ID 1 HUgn0000112 CHR 1 12 DID 1 LocusLink:112 MAP 1 12q12-q13 NAM 1 adenylate cyclase 6 ORG 1 Homo sapiens SYM 1 ADCY6 ID|HUgn0000112 DID|LocusLink:112 ORG|Homo sapiens RSQ|REFSEQ:NM_015270 |REFSEQ:NM_020983 RPA|REFPROT:NP_056085 |REFPROT:NP_066193 DBA|XM:NM_015270 |XM:NM_020983 |NA:AF250227 |NA:AB007882 |NA:AF250226 |NA:U65474 |NA:none PAC|XP:NP_056085 |XP:NP_066193 SYM|ADCY6 NAM|adenylate cyclase 6 SYN|KIAA0422 FNC|adenylate cyclase 6 isoform a |adenylate cyclase 6 isoform b |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and |catalyzes the formation of the secondary messenger cyclic adenosine monophosphate |(cAMP). The expression of this gene is found in normal thyroid and brain tissues, |as well as some tumors; and its expression is significantly higher in one hyperfunctioning |thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript |variants. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12373 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=112[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371620 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015270 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015270 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0422 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.12373 |OMIM:600294 |SNP:112 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|12q12-q13 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Adcy6; score == 2091; expect == 0.0; MEOW:MGgn0000150 (94%) |species == rat; score == 2088; expect == 0.0; MEOW:ref|NP_036953.1| (93%) |species == Human; gene == ADCY5; score == 1408; expect == 0.0; MEOW:HUgn0000111 (72%) |species == Mosquito; gene == LOC17563; score == 802; expect == 0.0; MEOW:AGgn0017563 (48%) |species == Mosquito; score == 704; expect == 0.0; MEOW:AGgn0011824 (45%) |species == Fruitfly; gene == Ac3; score == 516; expect == 2e-146; MEOW:FBgn0023416 (34%) |species == Fruitfly; gene == CG32158; score == 499; expect == 2e-141; MEOW:FBgn0052158 (49%) |species == Worm; gene == acy-4; score == 326; expect == 3.8e-89; MEOW:CEgn0028050 (45%) } # EOR GENR { RETE|ID 1 HUgn0000113 CHR 1 16 DID 1 LocusLink:113 MAP 1 16q12-q13 NAM 1 adenylate cyclase 7 ORG 1 Homo sapiens SYM 1 ADCY7 ID|HUgn0000113 DID|LocusLink:113 ORG|Homo sapiens RSQ|REFSEQ:NM_001114 RPA|REFPROT:NP_001105 DBA|XM:NM_001114 |NA:BC039891 |NA:D25538 |NA:none PAC|XP:NP_001105 SYM|ADCY7 NAM|adenylate cyclase 7 SYN|KIAA0037 FNC|adenylate cyclase 7 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. The adenylyl cyclase enzyme family is characterized by the presence |of 12 membrane-spanning domains in its sequences CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172199 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=113[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371621 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001114 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001114 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172199 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0037 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28 DBL|UNIGENE:Hs.172199 |OMIM:600385 |SNP:113 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|16q12-q13 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1616; expect == 0.0; MEOW:ref|XP_226333.2| (81%) |species == Mouse; gene == Adcy7; score == 1574; expect == 0.0; MEOW:MGgn0000151 (81%) |species == Human; gene == ADCY2; score == 1055; expect == 0.0; MEOW:HUgn0000108 (55%) |species == Human; gene == ADCY4; score == 925; expect == 0.0; MEOW:HUgn0196883 (52%) |species == Mosquito; score == 538; expect == 5e-153; MEOW:AGgn0011824 (39%) |species == Mosquito; score == 490; expect == 2e-138; MEOW:AGgn0028531 (33%) |species == Fruitfly; gene == Ac76E; score == 347; expect == 2.6e-95; MEOW:FBgn0004852 (38%) |species == Fruitfly; gene == rut; score == 318; expect == 1.8e-86; MEOW:FBgn0003301 (42%) |species == Fruitfly; gene == CG32158; score == 300; expect == 1.3e-81; MEOW:FBgn0052158 (48%) |species == Fruitfly; gene == ACXD; score == 292; expect == 1.2e-78; MEOW:FBgn0040507 (28%) |species == Fruitfly; gene == ACXB; score == 278; expect == 1.6e-74; MEOW:FBgn0040509 (27%) |species == Worm; gene == acy-4; score == 267; expect == 1.5e-71; MEOW:CEgn0028050 (47%) |species == Worm; gene == acy-2; score == 251; expect == 1.4e-66; MEOW:CEgn0000035 (41%) } # EOR GENR { RETE|ID 1 HUgn0000114 CHR 1 8 DID 1 LocusLink:114 MAP 1 8q24 NAM 1 adenylate cyclase 8 (brain) ORG 1 Homo sapiens SYM 1 ADCY8 ID|HUgn0000114 DID|LocusLink:114 ORG|Homo sapiens RSQ|REFSEQ:NM_001115 RPA|REFPROT:NP_001106 DBA|XM:NM_001115 |NA:M83533 |NA:Z35309 |NA:none PAC|XP:NP_001106 SYM|ADCY8 NAM|adenylate cyclase 8 (brain) SYN|ADCY3 |HBAC1 FNC|adenylate cyclase 8 |cAMP biosynthesis ; GO:0006171 |learning and/or memory ; GO:0007611 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. The enzymatic activity is under the control of several hormones, and |different polypeptides participate in the transduction of the signal from the receptor |to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact |with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity |of the catalytic subunit of the adenylyl cyclase CHR|8 PRD|Adenylyl cyclase-8, brain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511773 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=114[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001115 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001115 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA29 DBL|UNIGENE:Hs.511773 |OMIM:103070 |SNP:114 ENZ|EC:4.6.1.1 |calcium/calmodulin-responsive adenylate cyclase activity ; GO:0008294 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|8q24 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 2273; expect == 0.0; MEOW:ref|NP_058838.1| (96%) |species == Mouse; gene == Adcy8; score == 2269; expect == 0.0; MEOW:MGgn0000152 (96%) |species == Human; gene == ADCY5; score == 725; expect == 0.0; MEOW:HUgn0000111 (41%) |species == Human; gene == ADCY6; score == 720; expect == 0.0; MEOW:HUgn0000112 (40%) |species == Mosquito; score == 713; expect == 0.0; MEOW:AGgn0028531 (39%) |species == Mosquito; gene == LOC17563; score == 664; expect == 0.0; MEOW:AGgn0017563 (42%) |species == Human; gene == ADCY3; score == 652; expect == 0.0; MEOW:HUgn0000109 (36%) |species == Mosquito; score == 644; expect == 0.0; MEOW:AGgn0011824 (41%) |species == Human; gene == ADCY1; score == 644; expect == 0.0; MEOW:HUgn0000107 (41%) |species == Human; gene == ADCY2; score == 628; expect == 6e-180; MEOW:HUgn0000108 (37%) |species == Human; gene == ADCY4; score == 582; expect == 6e-166; MEOW:HUgn0196883 (38%) |species == Fruitfly; gene == Ac3; score == 570; expect == 1e-162; MEOW:FBgn0023416 (37%) |species == Worm; gene == acy-4; score == 525; expect == 3e-149; MEOW:CEgn0028050 (37%) } # EOR GENR { RETE|ID 1 HUgn0000115 CHR 1 16 DID 1 LocusLink:115 MAP 1 16p13.3 NAM 1 adenylate cyclase 9 ORG 1 Homo sapiens SYM 1 ADCY9 ID|HUgn0000115 DID|LocusLink:115 ORG|Homo sapiens RSQ|REFSEQ:NM_001116 RPA|REFPROT:NP_001107 DBA|XM:NM_001116 |NA:AB011092 |NA:AF036927 |NA:AJ133123 |NA:none PAC|XP:NP_001107 SYM|ADCY9 NAM|adenylate cyclase 9 FNC|adenylate cyclase 9 |cAMP biosynthesis ; GO:0006171 |protein folding ; GO:0006457 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein |kinases, and calcium. The type 9 adenylyl cyclase (AC9) is a widely distributed |adenylyl cyclase. ADCY9 is stimulated by beta-adrenergic receptor activation but |is insensitive to forskolin, calcium, and somatostatin. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=20196 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=115[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139183 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001116 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001116 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.20196 |OMIM:603302 |SNP:115 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 |isomerase activity ; GO:0016853 MAP|16p13.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adcy9; score == 2123; expect == 0.0; MEOW:MGgn0000153 (92%) |species == rat; score == 1199; expect == 0.0; MEOW:ref|XP_220178.2| (91%) |species == Human; gene == ADCY4; score == 375; expect == 1e-103; MEOW:HUgn0196883 (32%) |species == Mosquito; gene == LOC19838; score == 370; expect == 4e-102; MEOW:AGgn0019838 (43%) |species == Worm; gene == acy-1; score == 362; expect == 4e-100; MEOW:CEgn0000034 (45%) |species == Fruitfly; gene == Ac13E; score == 359; expect == 2.9e-99; MEOW:FBgn0022710 (42%) |species == Mosquito; score == 353; expect == 2.3e-97; MEOW:AGgn0026355 (39%) } # EOR GENR { RETE|ID 1 HUgn0000116 CHR 1 18 DID 1 LocusLink:116 MAP 1 18p11 NAM 1 adenylate cyclase activating polypeptide 1 (pituitary) ORG 1 Homo sapiens SYM 1 ADCYAP1 ID|HUgn0000116 DID|LocusLink:116 ORG|Homo sapiens RSQ|REFSEQ:NM_001117 RPA|REFPROT:NP_001108 DBA|XM:NM_001117 |NA:X60435 |NA:Z64808 |NA:S83513 |NA:none PAC|XP:NP_001108 SYM|ADCYAP1 NAM|adenylate cyclase activating polypeptide 1 (pituitary) SYN|PACAP FNC|adenylate cyclase activating polypeptide precursor |adenylate cyclase activation ; GO:0007190 |pregnancy ; GO:0007565 |cell-cell signaling ; GO:0007267 REAB|This gene encodes adenylate cyclase activating polypeptide 1. Mediated by adenylate |cyclase activating polypeptide 1 receptors, this polypeptide stimulates adenylate |cyclase and subsequently increases the cAMP level in target cells. Adenylate cyclase |activating polypeptide 1 is not only a hypophysiotropic hormone, but also functions |as a neurotransmitter and neuromodulator. In addition, it plays a role in paracrine |and autocrine regulation of certain types of cells. This gene is composed of five |exons. Exons 1 and 2 encode the 5' UTR and signal peptide, respectively; exon 4 |encodes an adenylate cyclase activating polypeptide 1-related peptide; and exon |5 encodes the mature peptide and 3' UTR. This gene encodes three different mature |peptides, including two isotypes: a shorter form and a longer form. CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=68137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=116[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128626 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001117 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001117 DBL|UNIGENE:Hs.68137 |OMIM:102980 |SNP:116 MAP|18p11 ENZ|neuropeptide hormone activity ; GO:0005184 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Zfish; gene == adcyap1; score == 132; expect == 7.6e-33; MEOW:ZFgn0002621 (47%) } # EOR GENR { RETE|ID 1 HUgn0000117 CHR 1 7 DID 1 LocusLink:117 MAP 1 7p14 NAM 1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I ORG 1 Homo sapiens SYM 1 ADCYAP1R1 ID|HUgn0000117 DID|LocusLink:117 ORG|Homo sapiens RSQ|REFSEQ:NM_001118 RPA|REFPROT:NP_001109 DBA|XM:NM_001118 |XM:NM_001118 |NA:U09216 |NA:AI815550 |NA:AY366498 |NA:D17516 |NA:none PAC|XP:NP_001109 |XP:NP_001109 SYM|ADCYAP1R1 NAM|adenylate cyclase activating polypeptide 1 (pituitary) receptor type I SYN|PACAPR |PACAPRI FNC|type I adenylate cyclase activating polypeptide receptor precursor |G-protein coupled receptor protein signaling pathway ; GO:0007186 |spermatogenesis ; GO:0007283 REAB|This gene encodes type I adenylate cyclase activating polypeptide receptor, which |is a membrane-associated protein and shares significant homology with members of |the glucagon/secretin receptor family. This receptor mediates diverse biological |actions of adenylate cyclase activating polypeptide 1 and is positively coupled |to adenylate cyclase. Alternative splicing of two exons of this gene generates four |major splice variants, but their full-length nature has not been determined. CHR|7 PRD|adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=377783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=117[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:252253 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001118 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001118 DBL|UNIGENE:Hs.377783 |OMIM:102981 |SNP:117 MAP|7p14 ENZ|vasoactive intestinal polypeptide receptor activity ; GO:0004999 |G-protein coupled receptor activity ; GO:0004930 |receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 854; expect == 0.0; MEOW:ref|NP_598195.1| (87%) |species == Mouse; gene == Adcyap1r1; score == 845; expect == 0.0; MEOW:MGgn0000155 (88%) |species == Human; gene == VIPR2; score == 425; expect == 3e-119; MEOW:HUgn0007434 (50%) |species == Human; gene == VIPR1; score == 399; expect == 1e-111; MEOW:HUgn0007433 (50%) |species == Human; gene == SCTR; score == 390; expect == 1e-108; MEOW:HUgn0006344 (50%) |species == Zfish; gene == pthr1; score == 277; expect == 1.2e-74; MEOW:ZFgn0000649 (38%) |species == Zfish; gene == pthr3; score == 241; expect == 9.9e-64; MEOW:ZFgn0000651 (33%) |species == Zfish; gene == pthr2; score == 226; expect == 3.5e-59; MEOW:ZFgn0000650 (31%) |species == Mosquito; score == 161; expect == 3.6e-40; MEOW:AGgn0014164 (28%) |species == Fruitfly; gene == CG12370; score == 148; expect == 3.8e-36; MEOW:FBgn0033744 (29%) |species == Fruitfly; gene == CG13758; score == 139; expect == 6.2e-33; MEOW:FBgn0040378 (30%) } # EOR GENR { RETE|ID 1 HUgn0000118 CHR 1 4 DID 1 LocusLink:118 MAP 1 4p16.3 NAM 1 adducin 1 (alpha) ORG 1 Homo sapiens SYM 1 ADD1 ID|HUgn0000118 DID|LocusLink:118 ORG|Homo sapiens RSQ|REFSEQ:NM_001119 |REFSEQ:NM_014189 |REFSEQ:NM_014190 |REFSEQ:NM_176801 RPA|REFPROT:NP_001110 |REFPROT:NP_054908 |REFPROT:NP_054909 |REFPROT:NP_789771 DBA|XM:NM_001119 |XM:NM_014189 |XM:NM_014190 |XM:NM_176801 |NA:L29296 |NA:Z74617 |NA:AK025413 |NA:BC013393 |NA:BC042998 |NA:D44632 |NA:L07261 |NA:S70312 |NA:S70314 |NA:X58141 |NA:none PAC|XP:NP_001110 |XP:NP_054908 |XP:NP_054909 |XP:NP_789771 SYM|ADD1 NAM|adducin 1 (alpha) SYN|ADDA |MGC3339 |MGC44427 FNC|adducin 1 (alpha) isoform a |adducin 1 (alpha) isoform b |adducin 1 (alpha) isoform c |adducin 1 (alpha) isoform d REAB|Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, |gamma). Adducin is a heterodimeric protein that consists of related subunits, which |are produced from distinct genes but share a similar structure. Alpha- and beta-adducin |include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic |C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, |beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin |binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases |A and C. Alternative splicing results in multiple variants encoding distinct isoforms; |however, not all variants have been fully described. CHR|4 PRD|erythrocyte adducin alpha subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183706 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=118[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_176801 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_176801 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183706 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA31 DBL|UNIGENE:Hs.183706 |OMIM:102680 |SNP:118 MAP|4p16.3 PHP|Hypertension, essential, salt-sensitive ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 |structural constituent of cytoskeleton ; GO:0005200 CEL|membrane ; GO:0016020 |actin cytoskeleton ; GO:0015629 HG|species == rat; score == 1203; expect == 0.0; MEOW:ref|NP_058686.1| (91%) |species == Mouse; gene == Add1; score == 1149; expect == 0.0; MEOW:MGgn0000156 (95%) |species == Human; gene == ADD3; score == 647; expect == 0.0; MEOW:HUgn0000120 (54%) |species == Human; gene == ADD2; score == 584; expect == 5e-167; MEOW:HUgn0000119 (52%) |species == Mosquito; gene == LOC13206; score == 409; expect == 4e-114; MEOW:AGgn0013206 (37%) |species == Fruitfly; gene == hts; score == 376; expect == 5e-104; MEOW:FBgn0004873 (37%) |species == Worm; gene == add-1; score == 359; expect == 2.5e-99; MEOW:CEgn0030738 (37%) } # EOR GENR { RETE|ID 1 HUgn0000119 CHR 1 2 DID 1 LocusLink:119 MAP 1 2p14-p13 NAM 1 adducin 2 (beta) ORG 1 Homo sapiens SYM 1 ADD2 ID|HUgn0000119 DID|LocusLink:119 ORG|Homo sapiens RSQ|REFSEQ:NM_001617 |REFSEQ:NM_017482 |REFSEQ:NM_017483 |REFSEQ:NM_017484 |REFSEQ:NM_017485 |REFSEQ:NM_017486 |REFSEQ:NM_017487 |REFSEQ:NM_017488 RPA|REFPROT:NP_001608 |REFPROT:NP_059516 |REFPROT:NP_059517 |REFPROT:NP_059518 |REFPROT:NP_059519 |REFPROT:NP_059520 |REFPROT:NP_059521 |REFPROT:NP_059522 DBA|XM:NM_001617 |XM:NM_017482 |XM:NM_017483 |XM:NM_017484 |XM:NM_017485 |XM:NM_017486 |XM:NM_017487 |XM:NM_017488 |NA:AC005234 |NA:AF001597 |NA:S81079 |NA:S81083 |NA:AF486420 |NA:BC008709 |NA:BC010237 |NA:BC011416 |NA:BC027876 |NA:BC041666 |NA:BC056881 |NA:U43959 |NA:X58199 |NA:none PAC|XP:NP_001608 |XP:NP_059516 |XP:NP_059517 |XP:NP_059518 |XP:NP_059519 |XP:NP_059520 |XP:NP_059521 |XP:NP_059522 SYM|ADD2 NAM|adducin 2 (beta) SYN|ADDB FNC|adducin 2 isoform a |adducin 2 isoform b |adducin 2 isoform c |adducin 2 isoform d |adducin 2 isoform e |adducin 2 isoform f |adducin 2 isoform g |adducin 2 isoform h REAB|Adducins are heteromeric proteins composed of different subunits referred to as adducin |alpha, beta and gamma. The three subunits are encoded by distinct genes and belong |to a family of membrane skeletal proteins involved in the assembly of spectrin-actin |network in erythrocytes and at sites of cell-cell contact in epithelial tissues. | While adducins alpha and gamma are ubiquitously expressed, the expression of adducin |beta is restricted to brain and hematopoietic tissues. Adducin, originally purified |from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. | Polymorphisms resulting in amino acid substitutions in these two subunits have |been associated with the regulation of blood pressure in an animal model of hypertension. | Heterodimers consisting of alpha and gamma subunits have also been described. |Structurally, each subunit is comprised of two distinct domains. The amino-terminal |region is protease resistant and globular in shape, while the carboxy-terminal region |is protease sensitive. The latter contains multiple phosphorylation sites for protein |kinase C, the binding site for calmodulin, and is required for association with |spectrin and actin. Various adducin beta mRNAs, alternatively spliced at 3'end |and/or internally spliced and encoding different isoforms, have been described. | The functions of all the different isoforms are not known. CHR|2 PRD|beta adducin |Adducin-2 (beta) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113614 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=119[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135160 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017488 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017488 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=113614 DBL|UNIGENE:Hs.113614 |OMIM:102681 |SNP:119 MAP|2p14-p13 ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 CEL|membrane ; GO:0016020 |actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Add2; score == 1251; expect == 0.0; MEOW:MGgn0000157 (92%) |species == rat; score == 1037; expect == 0.0; MEOW:ref|NP_036623.1| (92%) |species == Human; gene == ADD3; score == 690; expect == 0.0; MEOW:HUgn0000120 (52%) |species == Human; gene == ADD1; score == 584; expect == 5e-167; MEOW:HUgn0000118 (52%) |species == Mosquito; gene == LOC13206; score == 399; expect == 3e-111; MEOW:AGgn0013206 (36%) |species == Fruitfly; gene == hts; score == 355; expect == 2.2e-98; MEOW:FBgn0004873 (36%) |species == Worm; gene == add-1; score == 281; expect == 1.1e-75; MEOW:CEgn0030738 (30%) } # EOR GENR { RETE|ID 1 HUgn0000120 CHR 1 10 DID 1 LocusLink:120 MAP 1 10q24.2-q24.3 NAM 1 adducin 3 (gamma) ORG 1 Homo sapiens SYM 1 ADD3 ID|HUgn0000120 DID|LocusLink:120 ORG|Homo sapiens RSQ|REFSEQ:NM_016824 |REFSEQ:NM_019903 RPA|REFPROT:NP_058432 |REFPROT:NP_063968 DBA|XM:NM_016824 |XM:NM_019903 |NA:Y14372 |NA:BC021694 |NA:BC057285 |NA:BX647403 |NA:BX648016 |NA:D67031 |NA:U37122 |NA:none PAC|XP:NP_058432 |XP:NP_063968 SYM|ADD3 NAM|adducin 3 (gamma) SYN|ADDL FNC|adducin 3 isoform a |adducin 3 isoform b REAB|Adducins are heteromeric proteins composed of different subunits referred to as adducin |alpha, beta and gamma. The three subunits are encoded by distinct genes and belong |to a family of membrane skeletal proteins involved in the assembly of spectrin-actin |network in erythrocytes and at sites of cell-cell contact in epithelial tissues. | While adducins alpha and gamma are ubiquitously expressed, the expression of adducin |beta is restricted to brain and hematopoietic tissues. Adducin, originally purified |from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. | Polymorphisms resulting in amino acid substitutions in these two subunits have |been associated with the regulation of blood pressure in an animal model of hypertension. | Heterodimers consisting of alpha and gamma subunits have also been described. |Structurally, each subunit is comprised of two distinct domains. The amino-terminal |region is protease resistant and globular in shape, while the carboxy-terminal region |is protease sensitive. The latter contains multiple phosphorylation sites for protein |kinase C, the binding site for calmodulin, and is required for association with |spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different |isoforms have been described. The functions of the different isoforms are not known. CHR|10 PRD|adducin-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324470 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=120[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045066 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016824 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016824 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324470 DBL|UNIGENE:Hs.324470 |OMIM:601568 |SNP:120 MAP|10q24.2-q24.3 ENZ|calmodulin binding ; GO:0005516 |structural constituent of cytoskeleton ; GO:0005200 CEL|membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == rat; score == 1202; expect == 0.0; MEOW:ref|XP_347206.1| (92%) |species == Mouse; gene == Add3; score == 1175; expect == 0.0; MEOW:MGgn0013336 (91%) |species == rat; score == 1166; expect == 0.0; MEOW:ref|XP_346590.1| (88%) |species == Human; gene == ADD2; score == 690; expect == 0.0; MEOW:HUgn0000119 (52%) |species == Human; gene == ADD1; score == 647; expect == 0.0; MEOW:HUgn0000118 (54%) |species == Mosquito; gene == LOC13206; score == 387; expect == 1e-107; MEOW:AGgn0013206 (34%) |species == Fruitfly; gene == hts; score == 360; expect == 7e-100; MEOW:FBgn0004873 (37%) |species == Worm; gene == add-1; score == 300; expect == 1.4e-81; MEOW:CEgn0030738 (34%) } # EOR GENR { RETE|ID 1 HUgn0000122 CHR 1 X DID 1 LocusLink:122 MAP 1 Xq25-q26 NAM 1 albinism-deafness syndrome ORG 1 Homo sapiens SYM 1 ADFN ID|HUgn0000122 DID|LocusLink:122 ORG|Homo sapiens SYM|ADFN NAM|albinism-deafness syndrome SYN|ALDS CHR|X DBL|OMIM:300700 MAP|Xq25-q26 PHP|Albinism-deafness syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118977 } # EOR GENR { RETE|ID 1 HUgn0000123 CHR 1 9 DID 1 LocusLink:123 MAP 1 9p22.1 NAM 1 adipose differentiation-related protein ORG 1 Homo sapiens SYM 1 ADFP ID|HUgn0000123 DID|LocusLink:123 ORG|Homo sapiens RSQ|REFSEQ:NM_001122 RPA|REFPROT:NP_001113 DBA|XM:NM_001122 |NA:AF443203 |NA:BC005127 |NA:BE311586 |NA:X97324 |NA:none PAC|XP:NP_001113 SYM|ADFP NAM|adipose differentiation-related protein SYN|ADRP |MGC10598 FNC|adipose differentiation-related protein REAB|Adipocyte differentiation-related protein is associated with the globule surface |membrane material. This protein is a major constituent of the globule surface. Increase |in mRNA levels is one of the earliest indications of adipocyte differentiation CHR|9 PRD|adipophilin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3416 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=123[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:130960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001122 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001122 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3416 DBL|UNIGENE:Hs.3416 |OMIM:103195 |SNP:123 MAP|9p22.1 CEL|lipid particle ; GO:0005811 |membrane ; GO:0016020 |extracellular ; GO:0005576 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Adfp; score == 661; expect == 0.0; MEOW:MGgn0000158 (80%) |species == rat; score == 620; expect == 3e-178; MEOW:ref|XP_216438.2| (81%) |species == Human; gene == TIP47; score == 338; expect == 3.5e-93; MEOW:HUgn0010226 (43%) } # EOR GENR { RETE|ID 1 HUgn0000124 CHR 1 4 DID 1 LocusLink:124 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 1A (class I), alpha polypeptide ORG 1 Homo sapiens SYM 1 ADH1A ID|HUgn0000124 DID|LocusLink:124 ORG|Homo sapiens RSQ|REFSEQ:NM_000667 RPA|REFPROT:NP_000658 DBA|XM:NM_000667 |NA:M32656 |NA:M12271 |NA:M12963 |NA:none PAC|XP:NP_000658 SYM|ADH1A NAM|alcohol dehydrogenase 1A (class I), alpha polypeptide SYN|ADH1 FNC|class I alcohol dehydrogenase, alpha subunit |alcohol metabolism ; GO:0006066 REAB|This gene encodes class I alcohol dehydrogenase, alpha subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, |consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, |exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. |Three genes encoding alpha, beta and gamma subunits are tandemly organized in a |genomic segment as a gene cluster. This gene is monomorphic and predominant in fetal |and infant livers, whereas the genes encoding beta and gamma subunits are polymorphic |and strongly expressed in adult livers. CHR|4 PRD|ADH, alpha subunit |aldehyde reductase |alcohol dehydrogenase 1 (class I), alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422855 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119650 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000667 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000667 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.422855 |OMIM:103700 |SNP:124 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ADH1C; score == 710; expect == 0.0; MEOW:HUgn0000126 (92%) |species == Human; gene == ADH1B; score == 709; expect == 0.0; MEOW:HUgn0000125 (92%) |species == Mouse; gene == Adh1; score == 644; expect == 0.0; MEOW:MGgn0000160 (83%) |species == rat; score == 621; expect == 2e-178; MEOW:ref|NP_062159.2| (80%) |species == rat; score == 537; expect == 3e-153; MEOW:ref|XP_346643.1| (67%) |species == Mouse; gene == Adh7; score == 536; expect == 5e-153; MEOW:MGgn0000167 (66%) |species == Zfish; gene == adh5; score == 491; expect == 1e-140; MEOW:ZFgn0002383 (62%) |species == Mosquito; score == 446; expect == 5e-126; MEOW:AGgn0020590 (58%) |species == Fruitfly; gene == Fdh; score == 414; expect == 2e-116; MEOW:FBgn0011768 (53%) |species == Worm; gene == H24K24.3a; score == 401; expect == 2e-112; MEOW:CEgn0030421 (52%) |species == Worm; gene == H24K24.3b; score == 396; expect == 6e-111; MEOW:CEgn0029527 (51%) |species == rice; score == 392; expect == 1e-109; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 391; expect == 3e-109; MEOW:ATgn0023742 (53%) |species == Weed; gene == ADH; score == 384; expect == 6e-107; MEOW:ATgn0002989 (50%) |species == rice; score == 376; expect == 2e-104; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 372; expect == 3e-103; MEOW:gnl|TIGR|8358.m00944 (49%) |species == rice; score == 367; expect == 2e-101; MEOW:gnl|TIGR|8358.m00945 (50%) |species == ecoli; score == 355; expect == 2.7e-99; MEOW:ref|NP_414890.1| (46%) |species == Yeast; gene == SFA1; score == 340; expect == 1.6e-94; MEOW:SGgn0002327 (45%) |species == Worm; gene == Y50D4C.2; score == 339; expect == 8.9e-94; MEOW:CEgn0028486 (50%) |species == Weed; gene == ADH; score == 335; expect == 1.9e-92; MEOW:ATgn0002166 (46%) |species == Weed; gene == ADH; score == 322; expect == 2.8e-88; MEOW:ATgn0003363 (44%) } # EOR GENR { RETE|ID 1 HUgn0000125 CHR 1 4 DID 1 LocusLink:125 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase IB (class I), beta polypeptide ORG 1 Homo sapiens SYM 1 ADH1B ID|HUgn0000125 DID|LocusLink:125 ORG|Homo sapiens RSQ|REFSEQ:NM_000668 RPA|REFPROT:NP_000659 DBA|XM:NM_000668 |NA:AF040967 |NA:L38290 |NA:M24308 |NA:M24316 |NA:M32657 |NA:X15447 |NA:AF153821 |NA:BC033009 |NA:BX647469 |NA:D00137 |NA:M21692 |NA:M24317 |NA:X03350 |NA:none PAC|XP:NP_000659 SYM|ADH1B NAM|alcohol dehydrogenase IB (class I), beta polypeptide SYN|ADH2 FNC|alcohol dehydrogenase 1B (class I), beta polypeptide |ethanol oxidation ; GO:0006069 REAB|The protein encoded by this gene is a member of the alcohol dehydrogenase family. |Members of this enzyme family metabolize a wide variety of substrates, including |ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation |products. This encoded protein, consisting of several homo- and heterodimers of |alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and |plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma |subunits are tandemly organized in a genomic segment as a gene cluster. CHR|4 PRD|ADH, beta subunit |aldehyde reductase |alcohol dehydrogenase 2 |alcohol dehydrogenase 2 (class I), beta polypeptide |alcohol dehydrogenase 1B (class I), beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=125[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119651 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000668 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000668 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=4 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24571 DBL|UNIGENE:Hs.4 |OMIM:103720 |SNP:125 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 PHP|Alcoholism, susceptibility to HG|species == Human; gene == ADH1C; score == 718; expect == 0.0; MEOW:HUgn0000126 (93%) |species == Human; gene == ADH1A; score == 709; expect == 0.0; MEOW:HUgn0000124 (92%) |species == Mouse; gene == Adh1; score == 646; expect == 0.0; MEOW:MGgn0000160 (82%) |species == rat; score == 629; expect == 0.0; MEOW:ref|NP_062159.2| (80%) |species == Mouse; gene == Adh7; score == 546; expect == 5e-156; MEOW:MGgn0000167 (67%) |species == rat; score == 537; expect == 3e-153; MEOW:ref|XP_346643.1| (68%) |species == Zfish; gene == adh5; score == 487; expect == 2e-139; MEOW:ZFgn0002383 (61%) |species == Mosquito; score == 450; expect == 3e-127; MEOW:AGgn0020590 (58%) |species == Fruitfly; gene == Fdh; score == 416; expect == 8e-117; MEOW:FBgn0011768 (53%) |species == Worm; gene == H24K24.3a; score == 401; expect == 2e-112; MEOW:CEgn0030421 (51%) |species == rice; score == 399; expect == 2e-111; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 398; expect == 3e-111; MEOW:ATgn0023742 (53%) |species == Worm; gene == H24K24.3b; score == 396; expect == 8e-111; MEOW:CEgn0029527 (50%) |species == Weed; gene == ADH; score == 390; expect == 8e-109; MEOW:ATgn0002989 (51%) |species == rice; score == 385; expect == 6e-107; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 381; expect == 6e-106; MEOW:gnl|TIGR|8358.m00944 (50%) |species == rice; score == 376; expect == 3e-104; MEOW:gnl|TIGR|8358.m00945 (50%) |species == ecoli; score == 366; expect == 2e-102; MEOW:ref|NP_414890.1| (47%) |species == Worm; gene == Y50D4C.2; score == 342; expect == 1.1e-94; MEOW:CEgn0028486 (49%) |species == Yeast; gene == SFA1; score == 341; expect == 9.6e-95; MEOW:SGgn0002327 (45%) |species == Weed; gene == ADH; score == 340; expect == 7.6e-94; MEOW:ATgn0002166 (46%) |species == Weed; gene == ADH; score == 329; expect == 1.3e-90; MEOW:ATgn0003363 (46%) |species == Weed; gene == ADH; score == 320; expect == 8.1e-88; MEOW:ATgn0030963 (44%) } # EOR GENR { RETE|ID 1 HUgn0000126 CHR 1 4 DID 1 LocusLink:126 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 1C (class I), gamma polypeptide ORG 1 Homo sapiens SYM 1 ADH1C ID|HUgn0000126 DID|LocusLink:126 ORG|Homo sapiens RSQ|REFSEQ:NM_000669 RPA|REFPROT:NP_000660 DBA|XM:NM_000669 |NA:M32658 |NA:M12272 |NA:X04299 |NA:X04350 |NA:none PAC|XP:NP_000660 SYM|ADH1C NAM|alcohol dehydrogenase 1C (class I), gamma polypeptide SYN|ADH3 FNC|class I alcohol dehydrogenase, gamma subunit |alcohol metabolism ; GO:0006066 REAB|This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, |consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, |exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. |Three genes encoding alpha, beta and gamma subunits are tandemly organized in a |genomic segment as a gene cluster. CHR|4 PRD|ADH, gamma subunit |aldehyde reductase |alcohol dehydrogenase 3 |alcohol dehydrogenase 3 (class I), gamma polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2523 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=126[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119652 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000669 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000669 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24572 DBL|UNIGENE:Hs.2523 |OMIM:103730 |SNP:126 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ADH1B; score == 718; expect == 0.0; MEOW:HUgn0000125 (93%) |species == Human; gene == ADH1A; score == 710; expect == 0.0; MEOW:HUgn0000124 (92%) |species == Mouse; gene == Adh1; score == 635; expect == 0.0; MEOW:MGgn0000160 (85%) |species == rat; score == 614; expect == 4e-176; MEOW:ref|NP_062159.2| (81%) |species == Mouse; gene == Adh7; score == 513; expect == 4e-146; MEOW:MGgn0000167 (68%) |species == rat; score == 504; expect == 3e-143; MEOW:ref|XP_346643.1| (68%) |species == Zfish; gene == adh5; score == 458; expect == 1e-130; MEOW:ZFgn0002383 (62%) |species == Mosquito; score == 425; expect == 1e-119; MEOW:AGgn0020590 (58%) |species == rice; score == 393; expect == 1e-109; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 392; expect == 2e-109; MEOW:ATgn0023742 (53%) |species == Fruitfly; gene == Fdh; score == 387; expect == 3e-108; MEOW:FBgn0011768 (52%) |species == Worm; gene == H24K24.3a; score == 374; expect == 3e-104; MEOW:CEgn0030421 (51%) |species == rice; score == 370; expect == 9e-103; MEOW:gnl|TIGR|8358.m00944 (49%) |species == Worm; gene == H24K24.3b; score == 369; expect == 1e-102; MEOW:CEgn0029527 (51%) |species == Weed; gene == ADH; score == 368; expect == 3e-102; MEOW:ATgn0002989 (50%) |species == rice; score == 358; expect == 5.8e-99; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 356; expect == 1.0e-98; MEOW:gnl|TIGR|8358.m00945 (49%) |species == Weed; gene == ADH; score == 343; expect == 1.2e-94; MEOW:ATgn0002166 (46%) |species == ecoli; score == 332; expect == 1.9e-92; MEOW:ref|NP_414890.1| (47%) |species == Weed; gene == ADH; score == 323; expect == 9.7e-89; MEOW:ATgn0030963 (45%) |species == Yeast; gene == SFA1; score == 321; expect == 1.0e-88; MEOW:SGgn0002327 (46%) |species == Worm; gene == Y50D4C.2; score == 318; expect == 6.5e-87; MEOW:CEgn0028486 (50%) } # EOR GENR { RETE|ID 1 HUgn0000127 CHR 1 4 DID 1 LocusLink:127 MAP 1 4q21-q24 NAM 1 alcohol dehydrogenase 4 (class II), pi polypeptide ORG 1 Homo sapiens SYM 1 ADH4 ID|HUgn0000127 DID|LocusLink:127 ORG|Homo sapiens RSQ|REFSEQ:NM_000670 RPA|REFPROT:NP_000661 DBA|XM:NM_000670 |NA:X56411 |NA:X56419 |NA:BC022319 |NA:M15943 |NA:none PAC|XP:NP_000661 SYM|ADH4 NAM|alcohol dehydrogenase 4 (class II), pi polypeptide SYN|ADH-2 FNC|class II alcohol dehydrogenase 4 pi subunit |aldehyde metabolism ; GO:0006081 |ethanol oxidation ; GO:0006069 |alcohol metabolism ; GO:0006066 REAB|This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase |is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation |of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to |pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase |genes. CHR|4 PRD|aldehyde reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1219 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=127[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119653 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000670 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000670 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.1219 |OMIM:103740 |SNP:127 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |electron-transferring-flavoprotein dehydrogenase activity ; GO:0004174 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q24 HG|species == Mouse; gene == Adh4; score == 580; expect == 2e-166; MEOW:MGgn0000170 (71%) |species == rat; score == 577; expect == 4e-165; MEOW:ref|NP_058966.1| (71%) |species == Zfish; gene == adh5; score == 492; expect == 7e-141; MEOW:ZFgn0002383 (64%) |species == Human; gene == ADH5; score == 488; expect == 3e-138; MEOW:HUgn0000128 (62%) |species == Mouse; gene == Adh5; score == 485; expect == 2e-137; MEOW:MGgn0000171 (61%) |species == Human; gene == ADH1B; score == 468; expect == 2e-132; MEOW:HUgn0000125 (60%) |species == Human; gene == ADH1A; score == 462; expect == 2e-130; MEOW:HUgn0000124 (60%) |species == Human; gene == LOC285802; score == 461; expect == 4e-130; MEOW:HUgn0285802 (59%) |species == Human; gene == ADH1C; score == 460; expect == 5e-130; MEOW:HUgn0000126 (59%) |species == Mosquito; score == 443; expect == 5e-125; MEOW:AGgn0020590 (55%) |species == Human; gene == ADH6; score == 443; expect == 1e-124; MEOW:HUgn0000130 (58%) |species == Human; gene == ADH7; score == 443; expect == 9e-125; MEOW:HUgn0000131 (58%) |species == Fruitfly; gene == Fdh; score == 428; expect == 1e-120; MEOW:FBgn0011768 (55%) |species == Weed; gene == ADHIII; score == 414; expect == 4e-116; MEOW:ATgn0023742 (54%) |species == rice; score == 411; expect == 1e-114; MEOW:gnl|TIGR|8351.m05482 (53%) |species == Worm; gene == H24K24.3a; score == 408; expect == 2e-114; MEOW:CEgn0030421 (51%) |species == Worm; gene == H24K24.3b; score == 405; expect == 2e-113; MEOW:CEgn0029527 (51%) |species == Human; gene == LOC343296; score == 396; expect == 9e-111; MEOW:HUgn0343296 (53%) |species == Weed; gene == ADH; score == 392; expect == 2e-109; MEOW:ATgn0002989 (49%) |species == rice; score == 382; expect == 4e-106; MEOW:gnl|TIGR|8358.m00944 (48%) |species == rice; score == 382; expect == 5e-106; MEOW:gnl|TIGR|8358.m00945 (50%) |species == rice; score == 372; expect == 5e-103; MEOW:gnl|TIGR|8358.m00941 (48%) |species == ecoli; score == 365; expect == 2e-102; MEOW:ref|NP_414890.1| (47%) |species == Worm; gene == Y50D4C.2; score == 355; expect == 2.2e-98; MEOW:CEgn0028486 (49%) |species == Yeast; gene == SFA1; score == 345; expect == 9.2e-96; MEOW:SGgn0002327 (48%) } # EOR GENR { RETE|ID 1 HUgn0000128 CHR 1 4 DID 1 LocusLink:128 MAP 1 4q21-q25 NAM 1 alcohol dehydrogenase 5 (class III), chi polypeptide ORG 1 Homo sapiens SYM 1 ADH5 ID|HUgn0000128 DID|LocusLink:128 ORG|Homo sapiens RSQ|REFSEQ:NM_000671 RPA|REFPROT:NP_000662 DBA|XM:NM_000671 |NA:M81112 |NA:M81118 |NA:BC014665 |NA:M29872 |NA:M30471 |NA:none PAC|XP:NP_000662 SYM|ADH5 NAM|alcohol dehydrogenase 5 (class III), chi polypeptide SYN|FDH |ADHX |ADH-3 FNC|class III alcohol dehydrogenase 5 chi subunit |ethanol oxidation ; GO:0006069 |alcohol metabolism ; GO:0006066 REAB|This gene encodes glutathione-dependent formaldehyde dehydrogenase or class III alcohol |dehydrogenase chi subunit, which is a member of the alcohol dehydrogenase family. |Members of this family metabolize a wide variety of substrates, including ethanol, |retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. |Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. It has |virtually no activity for ethanol oxidation, but exhibits high activity for oxidation |of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, |a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important |component of cellular metabolism for the elimination of formaldehyde, a potent irritant |and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact |dermatitis. CHR|4 PRD|formaldehyde dehydrogenase |glutathione-dependent formaldehyde dehydrogenase |Alcohol dehydrogenase (class III), chi polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=128[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119128 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000671 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000671 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78989 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00680 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.78989 |OMIM:103710 |SNP:128 ENZ|EC:1.1.1.1 |EC:1.2.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |formaldehyde dehydrogenase (glutathione) activity ; GO:0004327 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |fatty acid binding ; GO:0005504 |oxidoreductase activity ; GO:0016491 MAP|4q21-q25 HG|species == Mouse; gene == Adh5; score == 661; expect == 0.0; MEOW:MGgn0000171 (92%) |species == Human; gene == LOC285802; score == 654; expect == 0.0; MEOW:HUgn0285802 (94%) |species == Zfish; gene == adh5; score == 609; expect == 9e-175; MEOW:ZFgn0002383 (81%) |species == Human; gene == LOC343296; score == 586; expect == 7e-168; MEOW:HUgn0343296 (85%) |species == Mosquito; score == 541; expect == 1e-154; MEOW:AGgn0020590 (74%) |species == Fruitfly; gene == Fdh; score == 535; expect == 1e-152; MEOW:FBgn0011768 (71%) |species == Weed; gene == ADHIII; score == 523; expect == 8e-149; MEOW:ATgn0023742 (68%) |species == rice; score == 516; expect == 8e-147; MEOW:gnl|TIGR|8351.m05482 (67%) |species == Worm; gene == H24K24.3a; score == 510; expect == 3e-145; MEOW:CEgn0030421 (69%) |species == Worm; gene == H24K24.3b; score == 505; expect == 9e-144; MEOW:CEgn0029527 (68%) |species == rat; score == 466; expect == 1e-131; MEOW:ref|NP_062159.2| (62%) |species == Worm; gene == Y50D4C.2; score == 461; expect == 5e-130; MEOW:CEgn0028486 (67%) |species == ecoli; score == 449; expect == 1e-126; MEOW:ref|NP_414890.1| (62%) |species == Yeast; gene == SFA1; score == 441; expect == 3e-124; MEOW:SGgn0002327 (63%) |species == rat; score == 434; expect == 5e-122; MEOW:ref|NP_058966.1| (56%) |species == rat; score == 427; expect == 6e-120; MEOW:ref|XP_346643.1| (59%) |species == rat; score == 411; expect == 3e-115; MEOW:ref|XP_215715.2| (53%) |species == rat; score == 393; expect == 8e-110; MEOW:ref|XP_227746.2| (57%) } # EOR GENR { RETE|ID 1 HUgn0000129 CHR 1 4 DID 1 LocusLink:129 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 ORG 1 Homo sapiens SYM 1 ADH5P1 ID|HUgn0000129 DID|LocusLink:129 CLA|Pseudogene ORG|Homo sapiens SYM|ADH5P1 NAM|alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 SYN|ADH-3P1 CHR|4 MAP|4q21-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125362 } # EOR GENR { RETE|ID 1 HUgn0000130 CHR 1 4 DID 1 LocusLink:130 MAP 1 4q23 NAM 1 alcohol dehydrogenase 6 (class V) ORG 1 Homo sapiens SYM 1 ADH6 ID|HUgn0000130 DID|LocusLink:130 ORG|Homo sapiens RSQ|REFSEQ:NM_000672 RPA|REFPROT:NP_000663 DBA|XM:NM_000672 |NA:M84402 |NA:M84409 |NA:AJ278908 |NA:AK092768 |NA:BC039065 |NA:none PAC|XP:NP_000663 SYM|ADH6 NAM|alcohol dehydrogenase 6 (class V) SYN|ADH-5 FNC|class V alcohol dehydrogenase 6 REAB|This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol |dehydrogenase family. Members of this family metabolize a wide variety of substrates, |including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid |peroxidation products. This gene is expressed in the stomach as well as in the liver, |and it contains a glucocorticoid response element upstream of its 5' UTR, which |is a steroid hormone receptor binding site. The deduced amino acid sequence of the |open reading frame of this gene shows about 60% positional identity with other known |alcohol dehydrogenases. This gene may have a distinct physiologic function. CHR|4 PRD|aldehyde reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429896 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=130[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129087 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000672 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000672 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=429896 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.429896 |OMIM:103735 |SNP:130 ENZ|EC:1.1.1.1 MAP|4q23 HG|species == rat; score == 483; expect == 9e-137; MEOW:ref|XP_227746.2| (65%) |species == Human; gene == ADH1A; score == 477; expect == 5e-135; MEOW:HUgn0000124 (63%) |species == Human; gene == ADH1B; score == 476; expect == 9e-135; MEOW:HUgn0000125 (63%) |species == rat; score == 449; expect == 1e-126; MEOW:ref|NP_062159.2| (62%) |species == Mouse; gene == Adh1; score == 444; expect == 3e-125; MEOW:MGgn0000160 (62%) |species == Human; gene == ADH1C; score == 443; expect == 6e-125; MEOW:HUgn0000126 (63%) |species == Human; gene == ADH4; score == 443; expect == 1e-124; MEOW:HUgn0000127 (58%) |species == rat; score == 442; expect == 1e-124; MEOW:ref|XP_215715.2| (56%) |species == Mouse; gene == Adh7; score == 437; expect == 3e-123; MEOW:MGgn0000167 (60%) |species == Mouse; gene == Adh6a; score == 437; expect == 5e-123; MEOW:MGgn0018515 (55%) |species == Human; gene == ADH7; score == 434; expect == 5e-122; MEOW:HUgn0000131 (60%) |species == Human; gene == ADH5; score == 430; expect == 5e-121; MEOW:HUgn0000128 (59%) |species == rat; score == 429; expect == 1e-120; MEOW:ref|XP_346643.1| (60%) |species == Mouse; gene == Adh5; score == 420; expect == 4e-118; MEOW:MGgn0000171 (58%) |species == Zfish; gene == adh5; score == 418; expect == 1e-118; MEOW:ZFgn0002383 (58%) |species == Mosquito; score == 403; expect == 4e-113; MEOW:AGgn0020590 (55%) |species == Human; gene == LOC285802; score == 401; expect == 4e-112; MEOW:HUgn0285802 (56%) |species == Mouse; gene == Adh4; score == 398; expect == 2e-111; MEOW:MGgn0000170 (52%) |species == rat; score == 397; expect == 5e-111; MEOW:ref|NP_058966.1| (54%) |species == Weed; gene == ADHIII; score == 367; expect == 6e-102; MEOW:ATgn0023742 (49%) |species == rice; score == 365; expect == 2e-101; MEOW:gnl|TIGR|8351.m05482 (48%) |species == Fruitfly; gene == Fdh; score == 362; expect == 1e-100; MEOW:FBgn0011768 (50%) |species == Worm; gene == H24K24.3a; score == 344; expect == 4.6e-95; MEOW:CEgn0030421 (48%) |species == rice; score == 340; expect == 5.8e-94; MEOW:gnl|TIGR|8358.m00944 (46%) |species == Worm; gene == H24K24.3b; score == 339; expect == 1.5e-93; MEOW:CEgn0029527 (47%) |species == Weed; gene == ADH; score == 337; expect == 5.0e-93; MEOW:ATgn0030963 (45%) |species == Weed; gene == ADH; score == 335; expect == 2.4e-92; MEOW:ATgn0002989 (47%) |species == rice; score == 329; expect == 1.4e-90; MEOW:gnl|TIGR|8358.m00945 (45%) |species == rice; score == 325; expect == 5.4e-89; MEOW:gnl|TIGR|8358.m00941 (45%) |species == ecoli; score == 324; expect == 5.0e-90; MEOW:ref|NP_414890.1| (47%) |species == Weed; gene == ADH; score == 322; expect == 2.3e-88; MEOW:ATgn0002166 (43%) |species == Weed; gene == ADH; score == 305; expect == 2.2e-83; MEOW:ATgn0022042 (43%) |species == rice; score == 301; expect == 8.3e-82; MEOW:gnl|TIGR|8351.m03988 (41%) |species == Weed; gene == ADH; score == 298; expect == 4.2e-81; MEOW:ATgn0003363 (44%) |species == Worm; gene == Y50D4C.2; score == 294; expect == 3.2e-80; MEOW:CEgn0028486 (46%) |species == Yeast; gene == SFA1; score == 289; expect == 5.5e-79; MEOW:SGgn0002327 (44%) } # EOR GENR { RETE|ID 1 HUgn0000131 CHR 1 4 DID 1 LocusLink:131 MAP 1 4q23-q24 NAM 1 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ORG 1 Homo sapiens SYM 1 ADH7 ID|HUgn0000131 DID|LocusLink:131 ORG|Homo sapiens RSQ|REFSEQ:NM_000673 RPA|REFPROT:NP_000664 DBA|XM:NM_000673 |NA:L47166 |NA:U16286 |NA:U16293 |NA:L33179 |NA:S77168 |NA:U07821 |NA:U09623 |NA:X76342 |NA:none PAC|XP:NP_000664 SYM|ADH7 NAM|alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide SYN|ADH-4 FNC|class IV alcohol dehydrogenase 7 mu or sigma subunit |regulation of transcription, DNA-dependent ; GO:0006355 |ethanol oxidation ; GO:0006069 REAB|This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is |a member of the alcohol dehydrogenase family. Members of this family metabolize |a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene |is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; |thus it may participate in the synthesis of retinoic acid, a hormone important for |cellular differentiation. The expression of this gene is much more abundant in stomach |than liver, thus differing from the other known gene family members. CHR|4 PRD|Alcohol dehydrogenase-7 |gastric alcohol dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=131[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000673 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000673 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.389 |OMIM:600086 |SNP:131 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |retinol dehydrogenase activity ; GO:0004745 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|4q23-q24 HG|species == Mouse; gene == Adh7; score == 665; expect == 0.0; MEOW:MGgn0000167 (89%) |species == rat; score == 646; expect == 0.0; MEOW:ref|XP_346643.1| (87%) |species == Human; gene == ADH1B; score == 552; expect == 2e-157; MEOW:HUgn0000125 (68%) |species == Human; gene == ADH1A; score == 546; expect == 7e-156; MEOW:HUgn0000124 (68%) |species == Human; gene == ADH1C; score == 527; expect == 3e-150; MEOW:HUgn0000126 (69%) |species == Human; gene == ADH4; score == 443; expect == 9e-125; MEOW:HUgn0000127 (58%) |species == Zfish; gene == adh5; score == 440; expect == 4e-125; MEOW:ZFgn0002383 (59%) |species == Mosquito; score == 416; expect == 6e-117; MEOW:AGgn0020590 (57%) |species == Fruitfly; gene == Fdh; score == 381; expect == 2e-106; MEOW:FBgn0011768 (52%) |species == rice; score == 377; expect == 6e-105; MEOW:gnl|TIGR|8351.m05482 (51%) |species == Weed; gene == ADHIII; score == 375; expect == 3e-104; MEOW:ATgn0023742 (51%) |species == Worm; gene == H24K24.3a; score == 365; expect == 1e-101; MEOW:CEgn0030421 (51%) |species == Worm; gene == H24K24.3b; score == 360; expect == 4e-100; MEOW:CEgn0029527 (51%) |species == rice; score == 355; expect == 2.3e-98; MEOW:gnl|TIGR|8358.m00944 (47%) |species == Weed; gene == ADH; score == 341; expect == 3.6e-94; MEOW:ATgn0002166 (46%) |species == rice; score == 341; expect == 9.6e-94; MEOW:gnl|TIGR|8358.m00941 (48%) |species == Weed; gene == ADH; score == 339; expect == 2.2e-93; MEOW:ATgn0002989 (45%) |species == rice; score == 332; expect == 2.7e-91; MEOW:gnl|TIGR|8358.m00945 (46%) |species == ecoli; score == 328; expect == 3.5e-91; MEOW:ref|NP_414890.1| (46%) |species == Yeast; gene == SFA1; score == 317; expect == 1.9e-87; MEOW:SGgn0002327 (46%) |species == Worm; gene == Y50D4C.2; score == 312; expect == 2.0e-85; MEOW:CEgn0028486 (48%) |species == Weed; gene == ADH; score == 305; expect == 2.7e-83; MEOW:ATgn0003363 (44%) |species == Weed; gene == ADH; score == 300; expect == 6.8e-82; MEOW:ATgn0030963 (41%) } # EOR GENR { RETE|ID 1 HUgn0000132 CHR 1 10 DID 1 LocusLink:132 MAP 1 10q22 NAM 1 adenosine kinase ORG 1 Homo sapiens SYM 1 ADK ID|HUgn0000132 DID|LocusLink:132 ORG|Homo sapiens RSQ|REFSEQ:NM_001123 |REFSEQ:NM_006721 RPA|REFPROT:NP_001114 |REFPROT:NP_006712 DBA|XM:NM_001123 |XM:NM_006721 |NA:AI608983 |NA:BC003568 |NA:BM472149 |NA:BT006788 |NA:CB133126 |NA:U33936 |NA:U50196 |NA:U90338 |NA:U90339 |NA:none PAC|XP:NP_001114 |XP:NP_006712 SYM|ADK NAM|adenosine kinase SYN|AK FNC|adenosine kinase isoform a |adenosine kinase isoform b |ribonucleoside monophosphate biosynthesis ; GO:0009156 |purine salvage ; GO:0006166 REAB|This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The |enzyme catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby |serving as a regulator of concentrations of both extracellular adenosine and intracellular |adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, |respiratory, and immune systems and inhibitors of the enzyme could play an important |pharmacological role in increasing intravascular adenosine concentrations and acting |as anti-inflammatory agents. Alternative splicing results in two transcript variants |encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine |with identical kinetics and both require Mg2+ for activity. CHR|10 PRD|adenosine 5'-phosphotransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355533 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=132[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001123 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001123 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355533 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.355533 |OMIM:102750 |SNP:132 ENZ|EC:2.7.1.20 |adenosine kinase activity ; GO:0004001 |magnesium ion binding ; GO:0000287 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|10q22 HG|species == Mouse; gene == Adk; score == 639; expect == 0.0; MEOW:MGgn0000173 (90%) |species == rat; score == 629; expect == 0.0; MEOW:ref|NP_037027.1| (89%) |species == Weed; gene == At3g09820; score == 406; expect == 1e-113; MEOW:ATgn0013520 (57%) |species == Weed; gene == At5g03300; score == 405; expect == 2e-113; MEOW:ATgn0023907 (56%) |species == rice; score == 405; expect == 2e-113; MEOW:gnl|TIGR|8351.m03893 (57%) |species == rice; score == 370; expect == 1e-102; MEOW:gnl|TIGR|8352.m04029 (48%) |species == Fruitfly; gene == CG11255; score == 348; expect == 1.9e-96; MEOW:FBgn0036337 (52%) |species == Worm; gene == R07H5.8; score == 345; expect == 1.1e-95; MEOW:CEgn0014611 (50%) |species == Mosquito; gene == LOC16420; score == 326; expect == 1.3e-89; MEOW:AGgn0016420 (48%) |species == Yeast; gene == ADO1; score == 233; expect == 4.3e-62; MEOW:SGgn0003866 (39%) } # EOR GENR { RETE|ID 1 HUgn0000133 CHR 1 11 DID 1 LocusLink:133 MAP 1 11p15.4 NAM 1 adrenomedullin ORG 1 Homo sapiens SYM 1 ADM ID|HUgn0000133 DID|LocusLink:133 ORG|Homo sapiens RSQ|REFSEQ:NM_001124 RPA|REFPROT:NP_001115 DBA|XM:NM_001124 |NA:D43639 |NA:S73906 |NA:BC015961 |NA:D14874 |NA:none PAC|XP:NP_001115 SYM|ADM NAM|adrenomedullin SYN|AM FNC|adrenomedullin |progesterone biosynthesis ; GO:0006701 |cAMP biosynthesis ; GO:0006171 |response to wounding ; GO:0009611 |pregnancy ; GO:0007565 |regulation of transcription, DNA-dependent ; GO:0006355 |circulation ; GO:0008015 |excretion ; GO:0007588 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of |52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology |with the calcitonin gene-related peptide. It may function as a hormone in circulation |control because it is found in blood in a considerable concentration. The precursor, |called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human |adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic |ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing |TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 |and a cAMP-regulated enhancer element. CHR|11 PRD|preproadrenomedullin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=441047 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=133[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:217070 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001124 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001124 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=441047 DBL|UNIGENE:Hs.441047 |OMIM:103275 |SNP:133 MAP|11p15.4 ENZ|hormone activity ; GO:0005179 |DNA binding ; GO:0003677 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == rat; score == 237; expect == 2.4e-63; MEOW:ref|NP_036847.1| (73%) |species == Mouse; gene == Adm; score == 218; expect == 1.3e-57; MEOW:MGgn0000174 (69%) } # EOR GENR { RETE|ID 1 HUgn0000134 CHR 1 1 DID 1 LocusLink:134 MAP 1 1q32.1 NAM 1 adenosine A1 receptor ORG 1 Homo sapiens SYM 1 ADORA1 ID|HUgn0000134 DID|LocusLink:134 ORG|Homo sapiens RSQ|REFSEQ:NM_000674 RPA|REFPROT:NP_000665 DBA|XM:NM_000674 |NA:AB004662 |NA:AK095060 |NA:AK127752 |NA:AY136746 |NA:BC026340 |NA:L22214 |NA:S45235 |NA:S56143 |NA:X68485 |NA:none PAC|XP:NP_000665 SYM|ADORA1 NAM|adenosine A1 receptor SYN|RDC7 FNC|adenosine A1 receptor |phagocytosis ; GO:0006909 |induction of apoptosis by extracellular signals ; GO:0008624 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|There are 3 types of adenosine receptors, each of which contains 7 transmembrane |domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase |while the type A2 receptors stimulate activity. Each adenosine receptor has a specific |pattern of ligand binding and a unique tissue distribution. The human ADORA1 gene |consists of 6 exons of which the last 2 are part of the coding region. A study of |mRNAs from a range of human tissues revealed the existence of alternative splicing |within the 5' UTR. Transcripts containing exons 4, 5 and 6 were found in all tissues |while a distinct transcript containing exons 3, 5 and 6 was seen only in certain |tissues. No transcript contained both exons 3 and 4. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77867 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=134[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126601 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000674 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000674 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77867 DBL|UNIGENE:Hs.77867 |OMIM:102775 |SNP:134 MAP|1q32.1 CEL|integral to plasma membrane ; GO:0005887 ENZ|A1 adenosine receptor activity, G-protein coupled ; GO:0001610 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Adora1; score == 504; expect == 2e-143; MEOW:MGgn0000178 (94%) |species == rat; score == 503; expect == 7e-143; MEOW:ref|NP_058851.1| (94%) |species == Human; gene == ADORA2B; score == 270; expect == 1.1e-72; MEOW:HUgn0000136 (47%) |species == Human; gene == ADORA3; score == 269; expect == 1.7e-72; MEOW:HUgn0000140 (48%) |species == Human; gene == ADORA2A; score == 259; expect == 2.5e-69; MEOW:HUgn0000135 (51%) |species == Fruitfly; gene == CG9753; score == 182; expect == 6.3e-46; MEOW:FBgn0039747 (34%) } # EOR GENR { RETE|ID 1 HUgn0000135 CHR 1 22 DID 1 LocusLink:135 MAP 1 22q11.23 NAM 1 adenosine A2a receptor ORG 1 Homo sapiens SYM 1 ADORA2A ID|HUgn0000135 DID|LocusLink:135 ORG|Homo sapiens RSQ|REFSEQ:NM_000675 RPA|REFPROT:NP_000666 DBA|XM:NM_000675 |NA:U20233 |NA:U40771 |NA:AK123058 |NA:AY136747 |NA:BC013780 |NA:BT006999 |NA:M97370 |NA:S46950 |NA:X68486 |NA:none PAC|XP:NP_000666 SYM|ADORA2A NAM|adenosine A2a receptor SYN|RDC8 |hA2aR |ADORA2 FNC|adenosine A2a receptor |phagocytosis ; GO:0006909 |cAMP biosynthesis ; GO:0006171 |adenylate cyclase activation ; GO:0007190 |sensory perception ; GO:0007600 |central nervous system development ; GO:0007417 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 |blood coagulation ; GO:0007596 |cellular defense response ; GO:0006968 |apoptosis ; GO:0006915 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|This gene encodes a protein which is one of several receptor subtypes for adenosine. |The activity of the encoded protein, a G-protein coupled receptor family member, |is mediated by G proteins which activate adenylyl cyclase. The encoded protein is |abundant in basal ganglia, vasculature and platelets and it is a major target of |caffeine. CHR|22 PRD|adenosine A2 receptor |adenosine receptor subtype A2a URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197029 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=135[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126602 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000675 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000675 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=197029 DBL|UNIGENE:Hs.197029 |OMIM:102776 |SNP:135 MAP|22q11.23 ENZ|adenosine receptor ; GO:0008501 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 625; expect == 1e-179; MEOW:ref|NP_445746.2| (82%) |species == Human; gene == ADORA2B; score == 381; expect == 3e-106; MEOW:HUgn0000136 (59%) |species == Mouse; gene == Adora2b; score == 372; expect == 1e-103; MEOW:MGgn0000180 (62%) |species == Fruitfly; gene == CG9753; score == 204; expect == 1.5e-52; MEOW:FBgn0039747 (36%) |species == Mosquito; gene == LOC20742; score == 199; expect == 2.2e-51; MEOW:AGgn0020742 (35%) } # EOR GENR { RETE|ID 1 HUgn0000136 CHR 1 17 DID 1 LocusLink:136 MAP 1 17p12-p11.2 NAM 1 adenosine A2b receptor ORG 1 Homo sapiens SYM 1 ADORA2B ID|HUgn0000136 DID|LocusLink:136 ORG|Homo sapiens RSQ|REFSEQ:NM_000676 RPA|REFPROT:NP_000667 DBA|XM:NM_000676 |NA:AY136748 |NA:BC025722 |NA:M97759 |NA:X68487 |NA:none PAC|XP:NP_000667 SYM|ADORA2B NAM|adenosine A2b receptor SYN|ADORA2 FNC|adenosine A2b receptor |activation of MAPK ; GO:0000187 |JNK cascade ; GO:0007254 |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |excretion ; GO:0007588 |cellular defense response ; GO:0006968 REAB|This gene encodes an adenosine receptor that is a member of the G protein-coupled |receptor superfamily. This integral membrane protein stimulates adenylate cyclase |activity in the presence of adenosine. This protein also interacts with netrin-1, |which is involved in axon elongation. The gene is located near the Smith-Magenis |syndrome region on chromosome 17. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=45743 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=136[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136339 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000676 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000676 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=45743 DBL|UNIGENE:Hs.45743 |OMIM:600446 |SNP:136 MAP|17p12-p11.2 CEL|integral to plasma membrane ; GO:0005887 ENZ|rhodopsin-like receptor activity ; GO:0001584 |A2B adenosine receptor activity, G-protein coupled ; GO:0001612 HG|species == Mouse; gene == Adora2b; score == 590; expect == 3e-169; MEOW:MGgn0000180 (87%) |species == rat; score == 583; expect == 4e-167; MEOW:ref|NP_058857.1| (86%) |species == Human; gene == ADORA2A; score == 381; expect == 3e-106; MEOW:HUgn0000135 (59%) |species == Fruitfly; gene == CG9753; score == 176; expect == 3.4e-44; MEOW:FBgn0039747 (32%) |species == chimp; score == 142; expect == 6.4e-36; MEOW:sp|BAA94470|BAA94470 (33%) |species == chimp; score == 137; expect == 2.1e-34; MEOW:sp|Q8HZG3|Q8HZG3 (31%) } # EOR GENR { RETE|ID 1 HUgn0000137 CHR 1 1 DID 1 LocusLink:137 MAP 1 1q32 NAM 1 adenosine A2b receptor pseudogene ORG 1 Homo sapiens SYM 1 ADORA2BP ID|HUgn0000137 DID|LocusLink:137 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL022398 SYM|ADORA2BP NAM|adenosine A2b receptor pseudogene CHR|1 MAP|1q32 DBL|SNP:137 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:438199 } # EOR GENR { RETE|ID 1 HUgn0000138 CHR 1 10 DID 1 LocusLink:138 MAP 1 10q25.3-q26.3 NAM 1 adenosine A2 receptor-like 1 ORG 1 Homo sapiens SYM 1 ADORA2L1 ID|HUgn0000138 DID|LocusLink:138 ORG|Homo sapiens SYM|ADORA2L1 NAM|adenosine A2 receptor-like 1 SYN|ADORA2L CHR|10 DBL|OMIM:102777 MAP|10q25.3-q26.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128572 } # EOR GENR { RETE|ID 1 HUgn0000139 CHR 1 1 DID 1 LocusLink:139 MAP 1 1q22 NAM 1 adenosine A2 receptor-like 2 ORG 1 Homo sapiens SYM 1 ADORA2L2 ID|HUgn0000139 DID|LocusLink:139 ORG|Homo sapiens SYM|ADORA2L2 NAM|adenosine A2 receptor-like 2 CHR|1 MAP|1q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:637785 } # EOR GENR { RETE|ID 1 HUgn0000140 CHR 1 1 DID 1 LocusLink:140 MAP 1 1p21-p13 NAM 1 adenosine A3 receptor ORG 1 Homo sapiens SYM 1 ADORA3 ID|HUgn0000140 DID|LocusLink:140 ORG|Homo sapiens RSQ|REFSEQ:NM_000677 RPA|REFPROT:NP_000668 DBA|XM:NM_000677 |NA:L77729 |NA:L77730 |NA:S81868 |NA:AY136749 |NA:BC029831 |NA:L20463 |NA:L22607 |NA:X76981 |NA:none PAC|XP:NP_000668 SYM|ADORA3 NAM|adenosine A3 receptor SYN|A3AR FNC|adenosine A3 receptor |regulation of heart rate ; GO:0008016 |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |signal transduction ; GO:0007165 |inflammatory response ; GO:0006954 REAB|There are 3 types of adenosine receptors, each of which contains 7 transmembrane |domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase |while the type A2 receptors stimulate activity. Each adenosine receptor has a specific |pattern of ligand binding and a unique tissue distribution. Adenosine released during |cardiac ischemia exerts a potent, protective effect in the heart. The adenosine |A3 receptor is expressed on cardiac ventricular cells, and its activation protects |the ventricular heart cell against injury during a subsequent exposure to ischemia. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=258 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=140[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:249573 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000677 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000677 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=258 DBL|UNIGENE:Hs.258 |OMIM:600445 |SNP:140 MAP|1p21-p13 CEL|integral to plasma membrane ; GO:0005887 ENZ|A3 adenosine receptor activity, G-protein coupled ; GO:0001613 |rhodopsin-like receptor activity ; GO:0001584 HG|species == rat; score == 437; expect == 4e-123; MEOW:ref|NP_037028.1| (71%) |species == Human; gene == ADORA1; score == 269; expect == 1.7e-72; MEOW:HUgn0000134 (48%) |species == Mouse; gene == Adora1; score == 266; expect == 5.6e-72; MEOW:MGgn0000178 (48%) |species == Human; gene == ADORA2B; score == 229; expect == 1.6e-60; MEOW:HUgn0000136 (39%) |species == Mouse; gene == Adora2b; score == 221; expect == 5.6e-58; MEOW:MGgn0000180 (41%) |species == Human; gene == ADORA2A; score == 218; expect == 2.7e-57; MEOW:HUgn0000135 (41%) |species == Fruitfly; gene == CG9753; score == 174; expect == 2.2e-43; MEOW:FBgn0039747 (32%) |species == Mosquito; gene == LOC20742; score == 149; expect == 8.6e-37; MEOW:AGgn0020742 (33%) } # EOR GENR { RETE|ID 1 HUgn0000141 CHR 1 3 DID 1 LocusLink:141 MAP 1 3q13.31-q13.33 NAM 1 ADP-ribosylarginine hydrolase ORG 1 Homo sapiens SYM 1 ADPRH ID|HUgn0000141 DID|LocusLink:141 ORG|Homo sapiens RSQ|REFSEQ:NM_001125 RPA|REFPROT:NP_001116 DBA|XM:NM_001125 |NA:L13291 |NA:none PAC|XP:NP_001116 SYM|ADPRH NAM|ADP-ribosylarginine hydrolase FNC|ADP-ribosylarginine hydrolase |protein modification ; GO:0006464 REAB|In the ADP-ribosylation cycle, ADP-ribose amino acid hydrolases release ADP-ribose and regenerate an unmodified protein CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99884 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=141[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:226562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001125 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001125 DBL|UNIGENE:Hs.99884 |OMIM:603081 |SNP:141 ENZ|EC:3.2.2.19 |ADP-ribosylarginine hydrolase activity ; GO:0003875 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|3q13.31-q13.33 HG|species == rat; score == 636; expect == 0.0; MEOW:ref|XP_340990.1| (83%) |species == Mouse; gene == Adprh; score == 628; expect == 2e-180; MEOW:MGgn0000183 (82%) |species == Human; gene == ADPRHL1; score == 309; expect == 1.3e-84; MEOW:HUgn0113622 (45%) } # EOR GENR { RETE|ID 1 HUgn0000142 CHR 1 1 DID 1 LocusLink:142 MAP 1 1q41-q42 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) ORG 1 Homo sapiens SYM 1 ADPRT ID|HUgn0000142 DID|LocusLink:142 ORG|Homo sapiens RSQ|REFSEQ:NM_001618 RPA|REFPROT:NP_001609 DBA|XM:NM_001618 |NA:M29786 |NA:X56140 |NA:BC008660 |NA:BC014206 |NA:BC018620 |NA:BC021045 |NA:BC037545 |NA:J03473 |NA:M17081 |NA:M18112 |NA:M32721 |NA:none PAC|XP:NP_001609 SYM|ADPRT NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) SYN|PARP |PPOL |ADPRT1 |PARP-1 |pADPRT-1 FNC|poly(ADP-ribosyl)transferase |protein amino acid ADP-ribosylation ; GO:0006471 |cell growth and/or maintenance ; GO:0008151 |DNA repair ; GO:0006281 |transcription from Pol II promoter ; GO:0006366 REAB|This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which |modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is |dependent on DNA and is involved in the regulation of various important cellular |processes such as differentiation, proliferation, and tumor transformation and also |in the regulation of the molecular events involved in the recovery of cell from |DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, |and may participate in the pathophysiology of type I diabetes. CHR|1 PRD|poly(ADP-ribose) synthetase |ADP-ribosyltransferase NAD(+) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177766 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=142[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119508 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001618 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001618 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177766 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA32 DBL|UNIGENE:Hs.177766 |OMIM:173870 |SNP:142 ENZ|EC:2.4.2.30 |NAD ADP-ribosyltransferase activity ; GO:0003950 |DNA binding ; GO:0003677 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|1q41-q42 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Adprt1; score == 1722; expect == 0.0; MEOW:MGgn0000184 (91%) |species == rat; score == 1672; expect == 0.0; MEOW:ref|NP_037195.1| (89%) |species == Mosquito; score == 778; expect == 0.0; MEOW:AGgn0014723 (43%) |species == Fruitfly; gene == Parp; score == 743; expect == 0.0; MEOW:FBgn0010247 (41%) |species == Weed; gene == At2g31320; score == 614; expect == 7e-176; MEOW:ATgn0008538 (37%) |species == rice; score == 505; expect == 4e-143; MEOW:gnl|TIGR|8355.m02055 (33%) |species == Worm; gene == pme-1; score == 402; expect == 5e-112; MEOW:CEgn0022522 (43%) |species == Human; gene == ADPRTL2; score == 370; expect == 8e-103; MEOW:HUgn0010038 (40%) } # EOR GENR { RETE|ID 1 HUgn0000143 CHR 1 13 DID 1 LocusLink:143 MAP 1 13q11 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 ORG 1 Homo sapiens SYM 1 ADPRTL1 ID|HUgn0000143 DID|LocusLink:143 ORG|Homo sapiens RSQ|REFSEQ:NM_006437 RPA|REFPROT:NP_006428 DBA|XM:NM_006437 |NA:AF057160 |NA:AF158255 |NA:D79999 |NA:none PAC|XP:NP_006428 SYM|ADPRTL1 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 SYN|PH5P |p193 |PARPL |VPARP |VAULT3 |KIAA0177 FNC|poly(ADP-ribosyl)transferase-like 1 |protein amino acid ADP-ribosylation ; GO:0006471 |transport ; GO:0006810 |necrosis ; GO:0008220 |DNA repair ; GO:0006281 |inflammatory response ; GO:0006954 |response to drug ; GO:0042493 REAB|This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which contains a catalytic |domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein |has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, |but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic |domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding |DNA directly, its transferase activity may be activated by other factors such as |protein-protein interaction mediated by the extensive carboxyl terminus. CHR|13 PRD|PARP-related |H5 proline-rich |I-alpha-I-related |vault protein, 193-kDa |poly(ADP-ribose) synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437959 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=143[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836811 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006437 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006437 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0177 DBL|UNIGENE:Hs.437959 |OMIM:607519 |SNP:143 ENZ|EC:2.4.2.30 |NAD ADP-ribosyltransferase activity ; GO:0003950 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|13q11 CEL|nucleus ; GO:0005634 |ribonucleoprotein complex ; GO:0030529 HG|species == rat; score == 1771; expect == 0.0; MEOW:ref|XP_341327.1| (62%) |species == Human; gene == LOC144848; score == 863; expect == 0.0; MEOW:HUgn0144848 (71%) |species == Mouse; gene == 5830475I06Rik; score == 174; expect == 3.5e-43; MEOW:MGgn0026225 (26%) |species == Mouse; gene == AW551984; score == 144; expect == 2.6e-34; MEOW:MGgn0036933 (26%) } # EOR GENR { RETE|ID 1 HUgn0000144 CHR 1 13 DID 1 LocusLink:144 MAP 1 13q34 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1 ORG 1 Homo sapiens SYM 1 ADPRTP1 ID|HUgn0000144 DID|LocusLink:144 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL442128 SYM|ADPRTP1 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1 SYN|PPOLP1 CHR|13 MAP|13q34 DBL|SNP:144 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119509 } # EOR GENR { RETE|ID 1 HUgn0000145 CHR 1 14 DID 1 LocusLink:145 MAP 1 14q22 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2 ORG 1 Homo sapiens SYM 1 ADPRTP2 ID|HUgn0000145 DID|LocusLink:145 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL137191 SYM|ADPRTP2 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2 SYN|PPOLP2 CHR|14 MAP|14q22 DBL|SNP:145 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119510 } # EOR GENR { RETE|ID 1 HUgn0000146 CHR 1 20 DID 1 LocusLink:146 MAP 1 20p13 NAM 1 adrenergic, alpha-1D-, receptor ORG 1 Homo sapiens SYM 1 ADRA1D ID|HUgn0000146 DID|LocusLink:146 ORG|Homo sapiens RSQ|REFSEQ:NM_000678 RPA|REFPROT:NP_000669 DBA|XM:NM_000678 |NA:D29952 |NA:L31772 |NA:M76446 |NA:S70782 |NA:U03864 |NA:none PAC|XP:NP_000669 SYM|ADRA1D NAM|adrenergic, alpha-1D-, receptor SYN|ADRA1 |ADRA1A |ADRA1R FNC|alpha-1D-adrenergic receptor |positive regulation of cell proliferation ; GO:0008284 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |development ; GO:0007275 |cell proliferation ; GO:0008283 |DNA metabolism ; GO:0006259 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar |to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron |that interrupts the coding region. CHR|20 PRD|adrenergic, alpha-1A-, receptor |adrenergic, alpha -1D-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=146[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118749 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000678 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000678 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24597 DBL|UNIGENE:Hs.557 |OMIM:104219 |SNP:146 MAP|20p13 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 744; expect == 0.0; MEOW:ref|NP_077809.1| (83%) |species == Mouse; gene == Adra1d; score == 616; expect == 9e-177; MEOW:MGgn0000189 (73%) |species == Human; gene == ADRA1B; score == 464; expect == 5e-131; MEOW:HUgn0000147 (66%) |species == Human; gene == ADRA1A; score == 414; expect == 5e-116; MEOW:HUgn0000148 (62%) |species == Fruitfly; gene == DopR; score == 211; expect == 5.9e-55; MEOW:FBgn0011582 (36%) |species == chimp; score == 210; expect == 1.0e-54; MEOW:sp|Q9N298|Q9N298 (31%) |species == chimp; score == 208; expect == 3.5e-54; MEOW:sp|Q8HZG3|Q8HZG3 (38%) |species == Mosquito; gene == LOC13461; score == 205; expect == 5.1e-53; MEOW:AGgn0013461 (34%) |species == Fruitfly; gene == DopR2; score == 202; expect == 3.2e-52; MEOW:FBgn0015129 (39%) |species == chimp; score == 199; expect == 1.7e-51; MEOW:sp|BAA94456|BAA94456 (34%) |species == Mosquito; gene == LOC12916; score == 190; expect == 1.4e-48; MEOW:AGgn0012916 (35%) |species == chimp; score == 183; expect == 1.9e-46; MEOW:sp|BAA94470|BAA94470 (33%) |species == Mosquito; score == 182; expect == 3.1e-46; MEOW:AGgn0025633 (34%) |species == Mosquito; gene == LOC1531; score == 178; expect == 7.0e-45; MEOW:AGgn0001531 (45%) |species == Mosquito; gene == LOC4731; score == 169; expect == 4.5e-42; MEOW:AGgn0004731 (45%) } # EOR GENR { RETE|ID 1 HUgn0000147 CHR 1 5 DID 1 LocusLink:147 MAP 1 5q23-q32 NAM 1 adrenergic, alpha-1B-, receptor ORG 1 Homo sapiens SYM 1 ADRA1B ID|HUgn0000147 DID|LocusLink:147 ORG|Homo sapiens RSQ|REFSEQ:NM_000679 RPA|REFPROT:NP_000670 DBA|XM:NM_000679 |NA:M99589 |NA:M99590 |NA:L31773 |NA:U03865 |NA:none PAC|XP:NP_000670 SYM|ADRA1B NAM|adrenergic, alpha-1B-, receptor SYN|ADRA1 FNC|alpha-1B-adrenergic receptor |protein kinase cascade ; GO:0007243 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |development ; GO:0007275 |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces |neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell |lines. Thus, this normal cellular gene is identified as a protooncogene. This gene |comprises 2 exons and a single large intron of at least 20 kb that interrupts the |coding region. CHR|5 PRD|adrenergic, alpha -1B-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416813 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=147[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000679 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000679 DBL|UNIGENE:Hs.416813 |OMIM:104220 |SNP:147 MAP|5q23-q32 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra1b; score == 964; expect == 0.0; MEOW:MGgn0000187 (94%) |species == Human; gene == ADRA1D; score == 464; expect == 5e-131; MEOW:HUgn0000146 (66%) |species == rat; score == 459; expect == 2e-129; MEOW:ref|NP_077809.1| (65%) |species == Human; gene == ADRA1A; score == 453; expect == 2e-127; MEOW:HUgn0000148 (62%) |species == rat; score == 446; expect == 1e-125; MEOW:ref|NP_058887.1| (62%) |species == Fruitfly; gene == DopR2; score == 237; expect == 6.1e-63; MEOW:FBgn0015129 (37%) |species == Mosquito; gene == LOC12916; score == 229; expect == 2.1e-60; MEOW:AGgn0012916 (38%) |species == chimp; score == 224; expect == 1.7e-60; MEOW:sp|Q9N298|Q9N298 (31%) |species == Mosquito; gene == LOC12908; score == 220; expect == 7.3e-58; MEOW:AGgn0012908 (35%) |species == Fruitfly; gene == CG6919; score == 215; expect == 2.5e-56; MEOW:FBgn0038980 (37%) |species == Fruitfly; gene == DopR; score == 213; expect == 1.6e-55; MEOW:FBgn0011582 (36%) |species == Fruitfly; gene == 5-HT7; score == 212; expect == 2.7e-55; MEOW:FBgn0004573 (34%) |species == chimp; score == 208; expect == 1.6e-55; MEOW:sp|Q9N2D9|Q9N2D9 (32%) |species == chimp; score == 207; expect == 2.1e-55; MEOW:sp|BAA94456|BAA94456 (36%) |species == Mosquito; score == 204; expect == 4.1e-53; MEOW:AGgn0018804 (35%) |species == chimp; score == 201; expect == 2.0e-53; MEOW:sp|Q8HZG3|Q8HZG3 (34%) |species == chimp; score == 198; expect == 1.3e-52; MEOW:sp|BAA94470|BAA94470 (34%) |species == chimp; score == 194; expect == 1.4e-51; MEOW:sp|Q9N2B6|Q9N2B6 (32%) |species == Worm; gene == ser-2; score == 188; expect == 3.8e-48; MEOW:CEgn0031307 (30%) |species == chimp; score == 188; expect == 1.3e-49; MEOW:sp|Q8HZF9|Q8HZF9 (36%) |species == Worm; gene == F14D12.6; score == 186; expect == 2.5e-47; MEOW:CEgn0008433 (30%) |species == Worm; gene == dop-1; score == 186; expect == 1.4e-47; MEOW:CEgn0030879 (34%) |species == Worm; gene == ser-7; score == 166; expect == 1.5e-41; MEOW:CEgn0004438 (30%) |species == Zfish; gene == si:bz20i5.4; score == 132; expect == 2.4e-32; MEOW:ZFgn0013193 (27%) } # EOR GENR { RETE|ID 1 HUgn0000148 CHR 1 8 DID 1 LocusLink:148 MAP 1 8p21-p11.2 NAM 1 adrenergic, alpha-1A-, receptor ORG 1 Homo sapiens SYM 1 ADRA1A ID|HUgn0000148 DID|LocusLink:148 ORG|Homo sapiens RSQ|REFSEQ:NM_000680 |REFSEQ:NM_033302 |REFSEQ:NM_033303 |REFSEQ:NM_033304 RPA|REFPROT:NP_000671 |REFPROT:NP_150645 |REFPROT:NP_150646 |REFPROT:NP_150647 DBA|XM:NM_000680 |XM:NM_033302 |XM:NM_033303 |XM:NM_033304 |NA:U03866 |NA:U08994 |NA:AF013261 |NA:AF395806 |NA:D25235 |NA:D32201 |NA:D32202 |NA:L31774 |NA:S76001 |NA:U02569 |NA:none PAC|XP:NP_000671 |XP:NP_150645 |XP:NP_150646 |XP:NP_150647 SYM|ADRA1A NAM|adrenergic, alpha-1A-, receptor SYN|ADRA1C |ADRA1L1 FNC|alpha-1A-adrenergic receptor isoform 1 |alpha-1A-adrenergic receptor isoform 2 |alpha-1A-adrenergic receptor isoform 3 |alpha-1A-adrenergic receptor isoform 4 |protein kinase cascade ; GO:0007243 |negative regulation of cell proliferation ; GO:0008285 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |smooth muscle contraction ; GO:0006939 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative |splicing of this gene generates 4 transcript variants, which encode 4 different |isoforms with distinct C termini but having similar ligand binding properties. CHR|8 PRD|adrenergic, alpha-1C-, receptor |adrenergic, alpha -1A-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=52931 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=148[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128088 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033303 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033303 DBL|UNIGENE:Hs.52931 |OMIM:104221 |SNP:148 MAP|8p21-p11.2 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 837; expect == 0.0; MEOW:ref|NP_058887.1| (92%) |species == Mouse; gene == Adra1a; score == 825; expect == 0.0; MEOW:MGgn0000188 (91%) |species == Human; gene == ADRA1B; score == 453; expect == 2e-127; MEOW:HUgn0000147 (62%) |species == Human; gene == ADRA1D; score == 414; expect == 5e-116; MEOW:HUgn0000146 (62%) |species == Fruitfly; gene == DopR2; score == 225; expect == 2.1e-59; MEOW:FBgn0015129 (37%) |species == Fruitfly; gene == DopR; score == 214; expect == 7.0e-56; MEOW:FBgn0011582 (34%) |species == chimp; score == 211; expect == 7.3e-55; MEOW:sp|BAA94456|BAA94456 (37%) |species == Mosquito; gene == LOC12908; score == 210; expect == 1.6e-54; MEOW:AGgn0012908 (33%) |species == Mosquito; gene == LOC12916; score == 210; expect == 1.7e-54; MEOW:AGgn0012916 (35%) |species == chimp; score == 207; expect == 1.0e-53; MEOW:sp|Q8HZG3|Q8HZG3 (37%) |species == Fruitfly; gene == CG6919; score == 195; expect == 4.4e-50; MEOW:FBgn0038980 (36%) |species == chimp; score == 192; expect == 3.1e-49; MEOW:sp|BAA94470|BAA94470 (34%) |species == chimp; score == 191; expect == 1.4e-50; MEOW:sp|Q9N2D9|Q9N2D9 (35%) |species == Fruitfly; gene == 5-HT7; score == 190; expect == 9.7e-49; MEOW:FBgn0004573 (31%) |species == chimp; score == 189; expect == 5.2e-50; MEOW:sp|Q9N2B6|Q9N2B6 (34%) |species == Mosquito; gene == LOC4047; score == 172; expect == 1.5e-43; MEOW:AGgn0004047 (36%) |species == Mosquito; gene == LOC4731; score == 172; expect == 2.6e-43; MEOW:AGgn0004731 (43%) |species == Mosquito; score == 172; expect == 2.5e-43; MEOW:AGgn0025633 (33%) |species == Mosquito; gene == LOC1444; score == 168; expect == 2.9e-42; MEOW:AGgn0001444 (32%) |species == Worm; gene == C52B11.3; score == 153; expect == 1.2e-37; MEOW:CEgn0006972 (38%) |species == Worm; gene == F14D12.6; score == 149; expect == 2.9e-36; MEOW:CEgn0008433 (36%) |species == Worm; gene == ser-3; score == 133; expect == 1.3e-31; MEOW:CEgn0013056 (39%) } # EOR GENR { RETE|ID 1 HUgn0000150 CHR 1 10 DID 1 LocusLink:150 MAP 1 10q24-q26 NAM 1 adrenergic, alpha-2A-, receptor ORG 1 Homo sapiens SYM 1 ADRA2A ID|HUgn0000150 DID|LocusLink:150 ORG|Homo sapiens RSQ|REFSEQ:NM_000681 RPA|REFPROT:NP_000672 DBA|XM:NM_000681 |NA:AF262016 |NA:AF281308 |NA:AF316894 |NA:AY032736 |NA:M18415 |NA:M23533 |NA:AF284095 |NA:BC035047 |NA:BC050414 |NA:none PAC|XP:NP_000672 SYM|ADRA2A NAM|adrenergic, alpha-2A-, receptor SYN|ADRA2 |ADRAR |ZNF32 |ADRA2R FNC|alpha-2A-adrenergic receptor |activation of MAPK ; GO:0000187 |negative regulation of adenylate cyclase activity ; GO:0007194 |Rho protein signal transduction ; GO:0007266 |positive regulation of cell proliferation ; GO:0008284 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |RAS protein signal transduction ; GO:0007265 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 |actin cytoskeleton organization and biogenesis ; GO:0030036 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. Studies in mouse |revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic |control of transmitter release from sympathetic nerves in the heart and from central |noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high |stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission |at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains |no introns in either its coding or untranslated sequences. CHR|10 PRD|alpha-2AAR subtype C10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249159 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=150[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120538 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000681 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000681 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=249159 DBL|UNIGENE:Hs.249159 |OMIM:104210 |SNP:150 MAP|10q24-q26 ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |potassium channel regulator activity ; GO:0015459 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra2a; score == 712; expect == 0.0; MEOW:MGgn0000190 (92%) |species == rat; score == 406; expect == 1e-113; MEOW:ref|NP_612515.1| (52%) |species == Human; gene == ADRA2C; score == 402; expect == 2e-112; MEOW:HUgn0000152 (51%) |species == Human; gene == ADRA2B; score == 391; expect == 4e-109; MEOW:HUgn0000151 (51%) |species == rat; score == 384; expect == 8e-107; MEOW:ref|XP_346669.1| (51%) |species == Mosquito; gene == LOC4731; score == 206; expect == 1.2e-53; MEOW:AGgn0004731 (34%) |species == chimp; score == 201; expect == 6.4e-52; MEOW:sp|Q9N298|Q9N298 (32%) |species == Worm; gene == ser-2; score == 199; expect == 1.8e-51; MEOW:CEgn0031307 (33%) |species == Mosquito; gene == LOC12908; score == 177; expect == 4.6e-45; MEOW:AGgn0012908 (40%) |species == Fruitfly; gene == TyrR; score == 177; expect == 8.1e-45; MEOW:FBgn0004514 (41%) |species == Mosquito; score == 175; expect == 2.3e-44; MEOW:AGgn0003015 (48%) |species == Mosquito; gene == LOC18839; score == 172; expect == 5.1e-43; MEOW:AGgn0018839 (27%) |species == Mosquito; gene == LOC12916; score == 171; expect == 3.3e-43; MEOW:AGgn0012916 (43%) |species == Fruitfly; gene == CG18208; score == 169; expect == 1.7e-42; MEOW:FBgn0038653 (46%) |species == Fruitfly; gene == 5-HT7; score == 163; expect == 9.3e-41; MEOW:FBgn0004573 (40%) |species == chimp; score == 162; expect == 6.6e-42; MEOW:sp|BAA94456|BAA94456 (38%) |species == Fruitfly; gene == DopR2; score == 155; expect == 2.5e-38; MEOW:FBgn0015129 (41%) |species == Fruitfly; gene == CG16766; score == 151; expect == 6.3e-37; MEOW:FBgn0038541 (41%) |species == Fruitfly; gene == CG7431; score == 146; expect == 1.5e-35; MEOW:FBgn0038542 (40%) } # EOR GENR { RETE|ID 1 HUgn0000151 CHR 1 2 DID 1 LocusLink:151 MAP 1 2p13-q13 NAM 1 adrenergic, alpha-2B-, receptor ORG 1 Homo sapiens SYM 1 ADRA2B ID|HUgn0000151 DID|LocusLink:151 ORG|Homo sapiens RSQ|REFSEQ:NM_000682 RPA|REFPROT:NP_000673 DBA|XM:NM_000682 |NA:AF005900 |NA:AF316895 |NA:M34041 |NA:M38742 |NA:none PAC|XP:NP_000673 SYM|ADRA2B NAM|adrenergic, alpha-2B-, receptor SYN|ADRA2L1 |ADRARL1 |ADRA2RL1 FNC|alpha-2B-adrenergic receptor |G-protein coupled receptor protein signaling pathway ; GO:0007186 |cell-cell signaling ; GO:0007267 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. This gene encodes |the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide |exchange protein that functions in regulation of translation. A polymorphic variant |of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat |element, was identified to have decreased G protein-coupled receptor kinase-mediated |phosphorylation and desensitization; this polymorphic form is also associated with |reduced basal metabolic rate in obese subjects and may therefore contribute to the |pathogenesis of obesity. This gene contains no introns in either its coding or untranslated |sequences. CHR|2 PRD|alpha-2-adrenergic receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247686 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=151[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120539 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000682 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000682 DBL|UNIGENE:Hs.247686 |OMIM:104260 |SNP:151 MAP|2p13-q13 ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 696; expect == 0.0; MEOW:ref|XP_346669.1| (83%) |species == Mouse; gene == Adra2b; score == 678; expect == 0.0; MEOW:MGgn0000191 (82%) |species == Human; gene == ADRA2A; score == 391; expect == 4e-109; MEOW:HUgn0000150 (51%) |species == Human; gene == ADRA2C; score == 375; expect == 2e-104; MEOW:HUgn0000152 (52%) |species == Mosquito; gene == LOC4731; score == 208; expect == 4.1e-54; MEOW:AGgn0004731 (33%) |species == Mosquito; gene == LOC12916; score == 170; expect == 9.6e-43; MEOW:AGgn0012916 (45%) |species == Mosquito; gene == LOC12908; score == 169; expect == 1.2e-42; MEOW:AGgn0012908 (43%) |species == Fruitfly; gene == TyrR; score == 166; expect == 1.4e-41; MEOW:FBgn0004514 (46%) |species == Fruitfly; gene == 5-HT7; score == 159; expect == 1.3e-39; MEOW:FBgn0004573 (42%) |species == Fruitfly; gene == CG7431; score == 153; expect == 9.6e-38; MEOW:FBgn0038542 (47%) |species == Worm; gene == F14D12.6; score == 150; expect == 1.7e-36; MEOW:CEgn0008433 (40%) |species == chimp; score == 150; expect == 2.6e-38; MEOW:sp|Q9N298|Q9N298 (41%) |species == Worm; gene == dop-1; score == 149; expect == 2.1e-36; MEOW:CEgn0030879 (42%) |species == Fruitfly; gene == CG18208; score == 149; expect == 2.4e-36; MEOW:FBgn0038653 (50%) |species == Worm; gene == ser-2; score == 143; expect == 1.2e-34; MEOW:CEgn0031307 (40%) |species == Fruitfly; gene == CG16766; score == 142; expect == 2.2e-34; MEOW:FBgn0038541 (42%) |species == chimp; score == 142; expect == 7.0e-36; MEOW:sp|Q9N2B6|Q9N2B6 (40%) |species == chimp; score == 139; expect == 5.9e-35; MEOW:sp|BAA94456|BAA94456 (35%) |species == Fruitfly; gene == DopR2; score == 138; expect == 4.2e-33; MEOW:FBgn0015129 (40%) |species == Worm; gene == ser-3; score == 136; expect == 1.9e-32; MEOW:CEgn0013056 (40%) |species == chimp; score == 136; expect == 3.9e-34; MEOW:sp|BAC10668|BAC10668 (39%) |species == Fruitfly; gene == DopR; score == 135; expect == 2.7e-32; MEOW:FBgn0011582 (39%) |species == Worm; gene == ser-7; score == 134; expect == 7.1e-32; MEOW:CEgn0004438 (42%) |species == chimp; score == 126; expect == 5.2e-31; MEOW:sp|Q9N2D9|Q9N2D9 (38%) } # EOR GENR { RETE|ID 1 HUgn0000152 CHR 1 4 DID 1 LocusLink:152 MAP 1 4p16 NAM 1 adrenergic, alpha-2C-, receptor ORG 1 Homo sapiens SYM 1 ADRA2C ID|HUgn0000152 DID|LocusLink:152 ORG|Homo sapiens RSQ|REFSEQ:NM_000683 RPA|REFPROT:NP_000674 DBA|XM:NM_000683 |NA:AF280399 |NA:AF280400 |NA:D13538 |NA:U72648 |NA:X72924 |NA:J03853 |NA:none PAC|XP:NP_000674 SYM|ADRA2C NAM|adrenergic, alpha-2C-, receptor SYN|ADRA2L2 |ADRARL2 |ADRA2RL2 FNC|alpha-2C-adrenergic receptor |activation of MAPK ; GO:0000187 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |behavior ; GO:0007610 |cell-cell signaling ; GO:0007267 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. The mouse studies |revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic |control of transmitter release from sympathetic nerves in the heart and from central |noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high |stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission |at lower levels of nerve activity. This gene encodes the alpha2C subtype, which |contains no introns in either its coding or untranslated sequences. CHR|4 PRD|alpha2-AR-C4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123022 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=152[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120540 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000683 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000683 DBL|UNIGENE:Hs.123022 |OMIM:104250 |SNP:152 MAP|4p16 PHP|Congestive heart failure, susceptibility to ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|endosome ; GO:0005768 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra2c; score == 601; expect == 3e-172; MEOW:MGgn0000192 (86%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_612515.1| (87%) |species == Human; gene == ADRA2A; score == 402; expect == 2e-112; MEOW:HUgn0000150 (51%) |species == Human; gene == ADRA2B; score == 375; expect == 2e-104; MEOW:HUgn0000151 (52%) |species == chimp; score == 226; expect == 1.4e-59; MEOW:sp|Q9N298|Q9N298 (35%) |species == Mosquito; gene == LOC12908; score == 219; expect == 3.4e-57; MEOW:AGgn0012908 (35%) |species == Mosquito; gene == LOC4731; score == 213; expect == 2.1e-55; MEOW:AGgn0004731 (34%) |species == Fruitfly; gene == 5-HT7; score == 194; expect == 8.5e-50; MEOW:FBgn0004573 (33%) |species == Mosquito; gene == LOC1531; score == 186; expect == 2.0e-47; MEOW:AGgn0001531 (32%) |species == Worm; gene == ser-1; score == 161; expect == 1.3e-39; MEOW:CEgn0022833 (31%) |species == Worm; gene == F14D12.6; score == 140; expect == 1.7e-33; MEOW:CEgn0008433 (39%) |species == Worm; gene == ser-2; score == 136; expect == 1.5e-32; MEOW:CEgn0031307 (43%) |species == Worm; gene == dop-1; score == 132; expect == 3.6e-31; MEOW:CEgn0030879 (40%) } # EOR GENR { RETE|ID 1 HUgn0000153 CHR 1 10 DID 1 LocusLink:153 MAP 1 10q24-q26 NAM 1 adrenergic, beta-1-, receptor ORG 1 Homo sapiens SYM 1 ADRB1 ID|HUgn0000153 DID|LocusLink:153 ORG|Homo sapiens RSQ|REFSEQ:NM_000684 RPA|REFPROT:NP_000675 DBA|XM:NM_000684 |NA:J03019 |NA:none PAC|XP:NP_000675 SYM|ADRB1 NAM|adrenergic, beta-1-, receptor SYN|RHR |B1AR |ADRB1R FNC|beta-1-adrenergic receptor |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic |family of guanine nucleotide binding regulatory protein-coupled receptors that mediate |the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=153[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119654 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000684 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000684 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA38 DBL|UNIGENE:Hs.99913 |OMIM:109630 |SNP:153 MAP|10q24-q26 PHP|congestive heart failure, susceptibility to |Resting heart rate ENZ|beta1-adrenergic receptor activity ; GO:0004940 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adrb1; score == 627; expect == 4e-180; MEOW:MGgn0000193 (85%) |species == rat; score == 626; expect == 9e-180; MEOW:ref|NP_036833.1| (86%) |species == Human; gene == ADRB2; score == 387; expect == 5e-108; MEOW:HUgn0000154 (55%) |species == chimp; score == 384; expect == 4e-107; MEOW:sp|Q8HZG3|Q8HZG3 (54%) |species == Human; gene == ADRB3; score == 328; expect == 4.0e-90; MEOW:HUgn0000155 (56%) |species == Fruitfly; gene == DopR; score == 210; expect == 1.7e-54; MEOW:FBgn0011582 (35%) |species == Fruitfly; gene == CG6919; score == 205; expect == 4.2e-53; MEOW:FBgn0038980 (36%) |species == Mosquito; gene == LOC12916; score == 183; expect == 1.5e-46; MEOW:AGgn0012916 (36%) |species == Mosquito; gene == LOC1444; score == 174; expect == 4.4e-44; MEOW:AGgn0001444 (35%) |species == Mosquito; gene == LOC18662; score == 161; expect == 4.2e-40; MEOW:AGgn0018662 (38%) |species == Mosquito; gene == LOC1531; score == 152; expect == 5.4e-37; MEOW:AGgn0001531 (44%) |species == Worm; gene == M03F4.3; score == 150; expect == 1.8e-36; MEOW:CEgn0014057 (39%) |species == Worm; gene == F01E11.5a; score == 132; expect == 2.9e-31; MEOW:CEgn0033976 (37%) |species == Worm; gene == F01E11.5b; score == 132; expect == 2.9e-31; MEOW:CEgn0033977 (37%) } # EOR GENR { RETE|ID 1 HUgn0000154 CHR 1 5 DID 1 LocusLink:154 MAP 1 5q31-q32 NAM 1 adrenergic, beta-2-, receptor, surface ORG 1 Homo sapiens SYM 1 ADRB2 ID|HUgn0000154 DID|LocusLink:154 ORG|Homo sapiens RSQ|REFSEQ:NM_000024 RPA|REFPROT:NP_000015 DBA|XM:NM_000024 |NA:AF022953 |NA:AF022954 |NA:AF022955 |NA:AF022956 |NA:AF169225 |NA:AF202305 |NA:AF203386 |NA:J02960 |NA:Y00106 |NA:AY136741 |NA:BC012481 |NA:M15169 |NA:X04827 |NA:none PAC|XP:NP_000015 SYM|ADRB2 NAM|adrenergic, beta-2-, receptor, surface SYN|BAR |B2AR |ADRBR |ADRB2R FNC|adrenergic, beta-2-, receptor, surface |transmembrane receptor protein tyrosine kinase activation (dimerization) ; GO:0007171 |endosome to lysosome transport ; GO:0008333 |activation of MAPK ; GO:0000187 |receptor mediated endocytosis ; GO:0006898 |protein kinase cascade ; GO:0007243 |adenylate cyclase activation ; GO:0007190 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled |receptor superfamily. This receptor is directly associated with one of its ultimate |effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex |also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing |phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that |ensures specific and rapid signaling by this G protein-coupled receptor. This gene |contains no introns in either its coding or untranslated sequences. Different polymorphic |forms, point mutations, and/or downregulation of this gene are associated with nocturnal |asthma, obesity and type 2 diabetes. CHR|5 PRD|beta-2 adrenoceptor |catecholamine receptor |beta-2 adrenergic receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2551 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=154[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120541 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000024 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000024 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2551 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA39 DBL|UNIGENE:Hs.2551 |OMIM:109690 |SNP:154 |UWCM:120541.html MAP|5q31-q32 PHP|Asthma, nocturnal, susceptibility to |Obesity, susceptibility to ENZ|beta2-adrenergic receptor activity ; GO:0004941 |receptor activity ; GO:0004872 |rhodopsin-like receptor activity ; GO:0001584 CEL|endosome ; GO:0005768 |lysosome ; GO:0005764 |integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 739; expect == 0.0; MEOW:sp|Q8HZG3|Q8HZG3 (98%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_036624.1| (87%) |species == Mouse; gene == Adrb2; score == 732; expect == 0.0; MEOW:MGgn0000194 (86%) |species == Human; gene == ADRB1; score == 387; expect == 5e-108; MEOW:HUgn0000153 (55%) |species == Human; gene == ADRB3; score == 314; expect == 5.0e-86; MEOW:HUgn0000155 (50%) |species == Fruitfly; gene == CG6919; score == 228; expect == 2.1e-60; MEOW:FBgn0038980 (39%) |species == Mosquito; score == 209; expect == 1.7e-54; MEOW:AGgn0018804 (37%) |species == Fruitfly; gene == DopR; score == 196; expect == 1.5e-50; MEOW:FBgn0011582 (33%) |species == Mosquito; gene == LOC12908; score == 190; expect == 8.0e-49; MEOW:AGgn0012908 (35%) |species == Fruitfly; gene == 5-HT7; score == 188; expect == 2.4e-48; MEOW:FBgn0004573 (32%) |species == Mosquito; gene == LOC12916; score == 185; expect == 2.0e-47; MEOW:AGgn0012916 (31%) |species == Fruitfly; gene == CG6989; score == 184; expect == 3.5e-47; MEOW:FBgn0038063 (39%) |species == Worm; gene == dop-1; score == 177; expect == 6.6e-45; MEOW:CEgn0030879 (32%) |species == Mosquito; gene == LOC1444; score == 172; expect == 2.3e-43; MEOW:AGgn0001444 (35%) |species == Worm; gene == M03F4.3; score == 144; expect == 1.3e-34; MEOW:CEgn0014057 (34%) } # EOR GENR { RETE|ID 1 HUgn0000155 CHR 1 8 DID 1 LocusLink:155 MAP 1 8p12-p11.2 NAM 1 adrenergic, beta-3-, receptor ORG 1 Homo sapiens SYM 1 ADRB3 ID|HUgn0000155 DID|LocusLink:155 ORG|Homo sapiens RSQ|REFSEQ:NM_000025 RPA|REFPROT:NP_000016 DBA|XM:NM_000025 |NA:M29932 |NA:X70812 |NA:X72861 |NA:S53291 |NA:X70811 |NA:none PAC|XP:NP_000016 SYM|ADRB3 NAM|adrenergic, beta-3-, receptor FNC|adrenergic, beta-3-, receptor |energy reserve metabolism ; GO:0006112 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |energy pathways ; GO:0006091 |carbohydrate metabolism ; GO:0005975 REAB|The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose |tissue and is involved in the regulation of lipolysis and thermogenesis. Beta adrenergic |receptors are involved in the epenephrine and norepinephrine-induced activation |of adenylate cyclase through the action of G proteins. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2549 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=155[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:203869 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000025 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000025 DBL|UNIGENE:Hs.2549 |OMIM:109691 |SNP:155 MAP|8p12-p11.2 ENZ|beta3-adrenergic receptor activity ; GO:0015052 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 542; expect == 1e-154; MEOW:ref|NP_037240.1| (79%) |species == Mouse; gene == Adrb3; score == 510; expect == 6e-145; MEOW:MGgn0000195 (80%) |species == chimp; score == 411; expect == 9e-117; MEOW:sp|Q8HZF9|Q8HZF9 (98%) |species == Human; gene == ADRB1; score == 328; expect == 4.0e-90; MEOW:HUgn0000153 (56%) |species == Human; gene == ADRB2; score == 314; expect == 5.0e-86; MEOW:HUgn0000154 (50%) |species == Fruitfly; gene == DopR; score == 198; expect == 8.9e-51; MEOW:FBgn0011582 (34%) |species == Fruitfly; gene == CG6919; score == 194; expect == 1.3e-49; MEOW:FBgn0038980 (36%) |species == Mosquito; gene == LOC1444; score == 169; expect == 1.4e-42; MEOW:AGgn0001444 (35%) |species == Worm; gene == dop-1; score == 159; expect == 3.4e-39; MEOW:CEgn0030879 (33%) |species == Worm; gene == M03F4.3; score == 152; expect == 3.7e-37; MEOW:CEgn0014057 (39%) |species == Mosquito; gene == LOC4047; score == 140; expect == 8.1e-34; MEOW:AGgn0004047 (36%) } # EOR GENR { RETE|ID 1 HUgn0000156 CHR 1 11 DID 1 LocusLink:156 MAP 1 11q13 NAM 1 adrenergic, beta, receptor kinase 1 ORG 1 Homo sapiens SYM 1 ADRBK1 ID|HUgn0000156 DID|LocusLink:156 ORG|Homo sapiens RSQ|REFSEQ:NM_001619 RPA|REFPROT:NP_001610 DBA|XM:NM_001619 |NA:U08435 |NA:U08436 |NA:U08437 |NA:U08438 |NA:BC037963 |NA:M80776 |NA:X61157 |NA:none PAC|XP:NP_001610 SYM|ADRBK1 NAM|adrenergic, beta, receptor kinase 1 SYN|GRK2 |BARK1 |BETA-ARK1 FNC|beta adrenergic receptor kinase 1 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|Beta-adrenergic receptor kinase (ADRBK1) phosphorylates the beta-2-adrenergic receptor |and appears to mediate agonist-specific desensitization observed at high agonist |concentrations. ADRBK1 is an ubiquitous cytosolic enzyme that specifically phosphorylates |the activated form of the beta-adrenergic and related G-protein-coupled receptors. |The ADRBK1 gene spans approximately 23 kb and is composed of 21 exons. Heart failure |is accompanied by severely impaired beta-adrenergic receptor (beta-AR) function. |An important mechanism for the rapid desensitization of beta-AR function is agonist-stimulated |receptor phosphorylation by the beta-AR kinase (beta-ARK1), an enzyme known to be |elevated in failing human heart tissue. Abnormal coupling of beta-adrenergic receptor |to G protein is involved in the pathogenesis of the failing heart. Inhibition of |ADRBK1 is a novel mode of therapy. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83636 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=156[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128604 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001619 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001619 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83636 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA40 DBL|UNIGENE:Hs.83636 |OMIM:109635 |SNP:156 ENZ|EC:2.7.1.126 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |G-protein coupled receptor kinase activity ; GO:0004703 |transferase activity ; GO:0016740 |beta-adrenergic-receptor kinase activity ; GO:0047696 MAP|11q13 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Adrbk1; score == 1370; expect == 0.0; MEOW:MGgn0000196 (97%) |species == rat; score == 1309; expect == 0.0; MEOW:ref|XP_346577.1| (98%) |species == Human; gene == ADRBK2; score == 1209; expect == 0.0; MEOW:HUgn0000157 (83%) |species == Fruitfly; gene == Gprk1; score == 907; expect == 0.0; MEOW:FBgn0004833 (66%) |species == Worm; gene == W02B3.2; score == 904; expect == 0.0; MEOW:CEgn0017350 (65%) |species == Mosquito; gene == LOC8658; score == 706; expect == 0.0; MEOW:AGgn0008658 (71%) |species == Yeast; gene == YPK1; score == 227; expect == 5.4e-60; MEOW:SGgn0001609 (40%) |species == Yeast; gene == YPK2; score == 222; expect == 1.7e-58; MEOW:SGgn0004710 (39%) |species == rice; score == 213; expect == 4.9e-55; MEOW:gnl|TIGR|8360.m02002 (38%) |species == Weed; gene == At3g08720; score == 212; expect == 6.5e-55; MEOW:ATgn0012546 (38%) |species == Yeast; gene == SCH9; score == 211; expect == 2.4e-55; MEOW:SGgn0001248 (35%) |species == chimp; score == 211; expect == 1.9e-56; MEOW:sp|BAC81132|BAC81132 (35%) |species == Weed; gene == At3g08730; score == 209; expect == 3.2e-54; MEOW:ATgn0012560 (38%) |species == rice; score == 202; expect == 1.1e-51; MEOW:gnl|TIGR|8355.m04622 (36%) |species == Yeast; gene == TPK3; score == 191; expect == 3.3e-49; MEOW:SGgn0001649 (34%) |species == Yeast; gene == TPK1; score == 191; expect == 3.3e-49; MEOW:SGgn0003700 (34%) |species == Zfish; gene == prkci; score == 183; expect == 2.1e-47; MEOW:ZFgn0002337 (32%) } # EOR GENR { RETE|ID 1 HUgn0000157 CHR 1 22 DID 1 LocusLink:157 MAP 1 22q11 NAM 1 adrenergic, beta, receptor kinase 2 ORG 1 Homo sapiens SYM 1 ADRBK2 ID|HUgn0000157 DID|LocusLink:157 ORG|Homo sapiens RSQ|REFSEQ:NM_005160 RPA|REFPROT:NP_005151 DBA|XM:NM_005160 |NA:AL022329 |NA:AK055687 |NA:AK058103 |NA:AK123767 |NA:AK124922 |NA:BC004918 |NA:BC014216 |NA:BC021221 |NA:BC029563 |NA:BC036797 |NA:BC037884 |NA:BC047380 |NA:X69117 |NA:none PAC|XP:NP_005151 SYM|ADRBK2 NAM|adrenergic, beta, receptor kinase 2 SYN|GRK3 |BARK2 FNC|beta adrenergic receptor kinase 2 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied |form of the beta-adrenergic and related G protein-coupled receptors. Overall, the |ADRBK2 enzyme has 85% amino acid similarity with ADRBK1, with the protein kinase |catalytic domain having 95% similarity. The ADRBK2 mRNA is approximately 8 kilobases |with a distribution similar to that of ADRBK1. These data suggest the existence |of a family of receptor kinases which may serve broadly to regulate receptor function CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445563 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=157[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131716 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005160 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005160 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445563 DBL|UNIGENE:Hs.445563 |OMIM:109636 |SNP:157 ENZ|EC:2.7.1.126 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |G-protein coupled receptor kinase activity ; GO:0004703 |transferase activity ; GO:0016740 |beta-adrenergic-receptor kinase activity ; GO:0047696 MAP|22q11 HG|species == Human; gene == ADRBK1; score == 1209; expect == 0.0; MEOW:HUgn0000156 (83%) |species == Mouse; gene == Adrbk1; score == 1199; expect == 0.0; MEOW:MGgn0000196 (83%) |species == rat; score == 1137; expect == 0.0; MEOW:ref|XP_346577.1| (83%) |species == Mouse; gene == 4833444A01Rik; score == 1087; expect == 0.0; MEOW:MGgn0040793 (92%) |species == rat; score == 918; expect == 0.0; MEOW:ref|XP_346862.1| (92%) |species == Fruitfly; gene == Gprk1; score == 909; expect == 0.0; MEOW:FBgn0004833 (66%) |species == Worm; gene == W02B3.2; score == 904; expect == 0.0; MEOW:CEgn0017350 (66%) |species == Mosquito; gene == LOC8658; score == 703; expect == 0.0; MEOW:AGgn0008658 (70%) |species == Yeast; gene == YPK1; score == 218; expect == 2.5e-57; MEOW:SGgn0001609 (39%) |species == rice; score == 218; expect == 2.6e-56; MEOW:gnl|TIGR|8360.m02002 (38%) |species == Yeast; gene == YPK2; score == 216; expect == 7.3e-57; MEOW:SGgn0004710 (39%) |species == chimp; score == 216; expect == 4.7e-58; MEOW:sp|BAC81132|BAC81132 (35%) |species == Yeast; gene == SCH9; score == 209; expect == 1.2e-54; MEOW:SGgn0001248 (37%) |species == rice; score == 209; expect == 9.3e-54; MEOW:gnl|TIGR|8355.m04622 (37%) |species == Weed; gene == At3g08720; score == 208; expect == 9.4e-54; MEOW:ATgn0012546 (37%) |species == Weed; gene == At3g08730; score == 208; expect == 7.2e-54; MEOW:ATgn0012560 (37%) |species == Yeast; gene == TPK3; score == 189; expect == 1.3e-48; MEOW:SGgn0001649 (35%) |species == Yeast; gene == TPK1; score == 188; expect == 3.6e-48; MEOW:SGgn0003700 (34%) |species == Zfish; gene == prkci; score == 179; expect == 3.1e-46; MEOW:ZFgn0002337 (31%) |species == Yeast; gene == TPK2; score == 175; expect == 1.9e-44; MEOW:SGgn0006124 (33%) |species == Weed; gene == At1g45160; score == 169; expect == 3.7e-42; MEOW:ATgn0005042 (33%) |species == Weed; gene == At1g48490; score == 167; expect == 2.4e-41; MEOW:ATgn0006891 (32%) } # EOR GENR { RETE|ID 1 HUgn0000158 CHR 1 22 DID 1 LocusLink:158 MAP 1 22q13.1 NAM 1 adenylosuccinate lyase ORG 1 Homo sapiens SYM 1 ADSL ID|HUgn0000158 DID|LocusLink:158 ORG|Homo sapiens RSQ|REFSEQ:NM_000026 RPA|REFPROT:NP_000017 DBA|XM:NM_000026 |NA:AF067853 |NA:AF067854 |NA:BC000253 |NA:BC018881 |NA:S60710 |NA:X65867 |NA:none PAC|XP:NP_000017 SYM|ADSL NAM|adenylosuccinate lyase FNC|adenylosuccinate lyase |purine ribonucleotide biosynthesis ; GO:0009152 REAB|Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation |of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions |in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide |(SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal |of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results |in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth |retardation associated with muscle wasting and epilepsy. CHR|22 PRD|adenylosuccinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75527 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=158[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119655 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000026 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000026 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75527 |http://www.geneclinics.org/query?mim=103050 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.75527 |OMIM:608222 |SNP:158 |UWCM:119655.html ENZ|EC:4.3.2.2 |adenylosuccinate lyase activity ; GO:0004018 |lyase activity ; GO:0016829 MAP|22q13.1 PHP|Adenylosuccinase deficiency HG|species == Mouse; gene == Adsl; score == 911; expect == 0.0; MEOW:MGgn0000203 (94%) |species == rat; score == 878; expect == 0.0; MEOW:ref|XP_235496.2| (90%) |species == Fruitfly; gene == CG3590; score == 629; expect == 1e-180; MEOW:FBgn0038467 (67%) |species == Mosquito; score == 614; expect == 2e-176; MEOW:AGgn0014908 (67%) |species == Yeast; gene == ADE13; score == 596; expect == 1e-170; MEOW:SGgn0004351 (64%) |species == Worm; gene == R06C7.5a; score == 404; expect == 4e-113; MEOW:CEgn0032359 (46%) |species == Worm; gene == R06C7.5b; score == 355; expect == 2.9e-98; MEOW:CEgn0032360 (53%) } # EOR GENR { RETE|ID 1 HUgn0000159 CHR 1 1 DID 1 LocusLink:159 MAP 1 1cen-q12 NAM 1 adenylosuccinate synthase ORG 1 Homo sapiens SYM 1 ADSS ID|HUgn0000159 DID|LocusLink:159 ORG|Homo sapiens RSQ|REFSEQ:NM_001126 RPA|REFPROT:NP_001117 DBA|XM:NM_001126 |NA:X66503 |NA:AK025514 |NA:BC012356 |NA:BG700800 |NA:none PAC|XP:NP_001117 SYM|ADSS NAM|adenylosuccinate synthase SYN|ADEH |MGC20404 FNC|adenylosuccinate synthase |AMP biosynthesis ; GO:0006167 |purine nucleotide biosynthesis ; GO:0006164 REAB|Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP CHR|1 PRD|Adenylosuccinate synthetase (Ade(-)H-complementing) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90011 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=159[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119656 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001126 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001126 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=90011 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.90011 |OMIM:103060 |SNP:159 ENZ|EC:6.3.4.4 |adenylosuccinate synthase activity ; GO:0004019 |GTP binding ; GO:0005525 |magnesium ion binding ; GO:0000287 |ligase activity ; GO:0016874 MAP|1cen-q12 HG|species == rat; score == 896; expect == 0.0; MEOW:ref|XP_222946.2| (96%) |species == Mouse; gene == Adss2; score == 894; expect == 0.0; MEOW:MGgn0000205 (96%) |species == Human; gene == ADSSL1; score == 721; expect == 0.0; MEOW:HUgn0122622 (77%) |species == Mouse; gene == Adss; score == 719; expect == 0.0; MEOW:MGgn0000204 (76%) |species == Zfish; gene == adss; score == 698; expect == 0.0; MEOW:ZFgn0002570 (76%) |species == Fruitfly; gene == CG17273; score == 553; expect == 3e-158; MEOW:FBgn0027493 (62%) |species == Mosquito; gene == LOC753; score == 551; expect == 2e-157; MEOW:AGgn0000753 (63%) |species == Yeast; gene == ADE12; score == 498; expect == 1e-141; MEOW:SGgn0005164 (57%) |species == Worm; gene == C37H5.6a; score == 460; expect == 6e-130; MEOW:CEgn0031778 (51%) |species == Worm; gene == C37H5.6b; score == 458; expect == 3e-129; MEOW:CEgn0031779 (54%) |species == Weed; gene == At3g57610; score == 414; expect == 5e-116; MEOW:ATgn0011482 (49%) |species == rice; score == 414; expect == 9e-116; MEOW:gnl|TIGR|8360.m04401 (47%) |species == rice; score == 413; expect == 2e-115; MEOW:gnl|TIGR|8360.m00679 (46%) |species == ecoli; score == 319; expect == 2.1e-88; MEOW:ref|NP_418598.1| (42%) } # EOR GENR { RETE|ID 1 HUgn0000160 CHR 1 19 DID 1 LocusLink:160 MAP 1 19q13.33 NAM 1 adaptor-related protein complex 2, alpha 1 subunit ORG 1 Homo sapiens SYM 1 AP2A1 ID|HUgn0000160 DID|LocusLink:160 ORG|Homo sapiens RSQ|REFSEQ:NM_014203 |REFSEQ:NM_130787 RPA|REFPROT:NP_055018 |REFPROT:NP_570603 DBA|XM:NM_014203 |XM:NM_130787 |NA:AC006942 |NA:AF289221 |NA:AK094317 |NA:AL136925 |NA:BC014214 |NA:none PAC|XP:NP_055018 |XP:NP_570603 SYM|AP2A1 NAM|adaptor-related protein complex 2, alpha 1 subunit SYN|ADTAA |CLAPA1 |AP2-ALPHA FNC|adaptor-related protein complex 2, alpha 1 subunit isoform 1 |adaptor-related protein complex 2, alpha 1 subunit isoform 2 |endocytosis ; GO:0006897 |intracellular protein transport ; GO:0006886 |Golgi to endosome transport ; GO:0006895 REAB|This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex |found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting |of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin |(sigma). The complex is part of the protein coat on the cytoplasmic face of coated |vesicles which links clathrin to receptors in vesicles. Alternative splicing of |this gene results in two transcript variants encoding two different isoforms. A |third transcript variant has been described, but its full length nature has not |been determined. CHR|19 PRD|adaptin, alpha A |100 kDa coated vesicle protein A |clathrin-associated/assembly/adaptor protein, large, alpha 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=296426 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=160[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433859 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014203 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014203 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=296426 DBL|UNIGENE:Hs.296426 |OMIM:601026 |SNP:160 MAP|19q13.33 ENZ|protein transporter activity ; GO:0008565 |structural molecule activity ; GO:0005198 CEL|coated pit ; GO:0005905 |Golgi apparatus ; GO:0005794 |AP-2 adaptor complex ; GO:0030122 |clathrin coat of trans-Golgi network vesicle ; GO:0030130 HG|species == Mouse; gene == Ap2a1; score == 1703; expect == 0.0; MEOW:MGgn0000421 (98%) |species == rat; score == 1634; expect == 0.0; MEOW:ref|XP_218624.2| (97%) |species == rat; score == 1477; expect == 0.0; MEOW:ref|NP_112270.1| (79%) |species == Mouse; gene == Ap2a2; score == 1473; expect == 0.0; MEOW:MGgn0000422 (79%) |species == Human; gene == AP2A2; score == 1140; expect == 0.0; MEOW:HUgn0000161 (89%) |species == Mosquito; score == 999; expect == 0.0; MEOW:AGgn0019991 (75%) |species == Fruitfly; gene == &agr;-Adaptin; score == 987; expect == 0.0; MEOW:FBgn0015567 (78%) |species == Weed; gene == At5g22770; score == 615; expect == 4e-176; MEOW:ATgn0020973 (36%) |species == Weed; gene == At5g22780; score == 614; expect == 1e-175; MEOW:ATgn0020974 (36%) |species == rice; score == 610; expect == 2e-174; MEOW:gnl|TIGR|8360.m00113 (36%) |species == Yeast; gene == APL3; score == 249; expect == 2.0e-66; MEOW:SGgn0000133 (28%) } # EOR GENR { RETE|ID 1 HUgn0000161 CHR 1 11 DID 1 LocusLink:161 MAP 1 11p15.5 NAM 1 adaptor-related protein complex 2, alpha 2 subunit ORG 1 Homo sapiens SYM 1 AP2A2 ID|HUgn0000161 DID|LocusLink:161 ORG|Homo sapiens RSQ|REFSEQ:NM_012305 RPA|REFPROT:NP_036437 DBA|XM:NM_012305 |NA:AB020706 |NA:AF049527 |NA:AK001986 |NA:AK027640 |NA:AK027891 |NA:AL117614 |NA:BC006155 |NA:none PAC|XP:NP_036437 SYM|AP2A2 NAM|adaptor-related protein complex 2, alpha 2 subunit SYN|HIP9 |HYPJ |ADTAB |CLAPA2 |KIAA0899 |DKFZP564D1864 FNC|adaptor-related protein complex 2, alpha 2 subunit |intracellular protein transport ; GO:0006886 CHR|11 PRD|adaptin, alpha B |alpha-adaptin C; Huntingtin interacting protein J |clathrin-associated/assembly/adaptor protein, large, alpha 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19121 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=161[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433860 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012305 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012305 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19121 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0899 DBL|UNIGENE:Hs.19121 |OMIM:607242 |SNP:161 MAP|11p15.5 ENZ|structural molecule activity ; GO:0005198 |molecular_function unknown ; GO:0005554 CEL|coated pit ; GO:0005905 |AP-2 adaptor complex ; GO:0030122 HG|species == rat; score == 1723; expect == 0.0; MEOW:ref|NP_112270.1| (96%) |species == Mouse; gene == Ap2a2; score == 1719; expect == 0.0; MEOW:MGgn0000422 (96%) |species == Mouse; gene == Ap2a1; score == 1461; expect == 0.0; MEOW:MGgn0000421 (79%) |species == rat; score == 1398; expect == 0.0; MEOW:ref|XP_218624.2| (78%) |species == Fruitfly; gene == &agr;-Adaptin; score == 1278; expect == 0.0; MEOW:FBgn0015567 (69%) |species == Mosquito; score == 1269; expect == 0.0; MEOW:AGgn0019991 (71%) |species == Human; gene == AP2A1; score == 1140; expect == 0.0; MEOW:HUgn0000160 (89%) |species == Weed; gene == At5g22770; score == 615; expect == 4e-176; MEOW:ATgn0020973 (37%) |species == Weed; gene == At5g22780; score == 613; expect == 1e-175; MEOW:ATgn0020974 (37%) |species == rice; score == 507; expect == 1e-143; MEOW:gnl|TIGR|8360.m00113 (44%) |species == Yeast; gene == APL3; score == 265; expect == 1.9e-71; MEOW:SGgn0000133 (25%) } # EOR GENR { RETE|ID 1 HUgn0000162 CHR 1 22 DID 1 LocusLink:162 MAP 1 22q12 NAM 1 adaptor-related protein complex 1, beta 1 subunit ORG 1 Homo sapiens SYM 1 AP1B1 ID|HUgn0000162 DID|LocusLink:162 ORG|Homo sapiens RSQ|REFSEQ:NM_001127 |REFSEQ:NM_145730 RPA|REFPROT:NP_001118 |REFPROT:NP_663782 DBA|XM:NM_001127 |XM:NM_145730 |NA:U36267 |NA:U36268 |NA:AI084003 |NA:BC046242 |NA:BM909530 |NA:L13939 |NA:none PAC|XP:NP_001118 |XP:NP_663782 SYM|AP1B1 NAM|adaptor-related protein complex 1, beta 1 subunit SYN|ADTB1 |BAM22 |AP105A |CLAPB2 FNC|adaptor-related protein complex 1 beta 1 subunit isoform a |adaptor-related protein complex 1 beta 1 subunit isoform b REAB|Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located |at the Golgi complex, where it mediates both the recruitment of clathrin to the |membrane and the recognition of sorting signals within the cytosolic tails of transmembrane |receptors. This complex is a heterotetramer composed of two large, one medium, and |one small adaptin subunit. The protein encoded by this gene serves as one of the |large subunits of this complex and is a member of the adaptin protein family. This |gene is a candidate meningioma gene. Two transcript variants encoding different |isoforms have been found for this gene, and variants utilizing alternative polyadenylation |signals exist. CHR|22 PRD|beta-adaptin 1 |beta-prime-adaptin |Golgi adaptor HA1/AP1 adaptin beta subunit |adaptor protein complex AP-1 beta 1 subunit |clathrin assembly protein complex 1 beta large chain |plasma membrane adaptor HA2/AP2 adaptor beta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=331602 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=162[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386097 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001127 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001127 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=331602 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24844 DBL|UNIGENE:Hs.331602 |OMIM:600157 |SNP:162 MAP|22q12 HG|species == rat; score == 1657; expect == 0.0; MEOW:ref|NP_058973.1| (95%) |species == Mouse; gene == Ap1b1; score == 1654; expect == 0.0; MEOW:MGgn0000414 (95%) |species == rat; score == 1472; expect == 0.0; MEOW:ref|NP_542150.1| (83%) |species == Human; gene == AP2B1; score == 1471; expect == 0.0; MEOW:HUgn0000163 (82%) |species == Mouse; gene == Ap2b1; score == 1469; expect == 0.0; MEOW:MGgn0016676 (82%) |species == rat; score == 1419; expect == 0.0; MEOW:ref|XP_214419.2| (81%) |species == rat; score == 1385; expect == 0.0; MEOW:ref|XP_214481.2| (78%) |species == Fruitfly; gene == Bap; score == 1281; expect == 0.0; MEOW:FBgn0010380 (72%) |species == Mosquito; gene == LOC13886; score == 1258; expect == 0.0; MEOW:AGgn0013886 (71%) |species == Human; gene == LOC347530; score == 1198; expect == 0.0; MEOW:HUgn0347530 (70%) |species == Worm; gene == apt-3; score == 1140; expect == 0.0; MEOW:CEgn0030524 (64%) |species == Weed; gene == At4g23460; score == 981; expect == 0.0; MEOW:ATgn0017959 (58%) |species == Weed; gene == At4g11380; score == 878; expect == 0.0; MEOW:ATgn0018337 (70%) |species == rice; score == 808; expect == 0.0; MEOW:gnl|TIGR|8360.m02169 (74%) |species == Yeast; gene == APL2; score == 442; expect == 3e-124; MEOW:SGgn0001618 (40%) } # EOR GENR { RETE|ID 1 HUgn0000163 CHR 1 17 DID 1 LocusLink:163 MAP 1 17q11.2-q12 NAM 1 adaptor-related protein complex 2, beta 1 subunit ORG 1 Homo sapiens SYM 1 AP2B1 ID|HUgn0000163 DID|LocusLink:163 ORG|Homo sapiens RSQ|REFSEQ:NM_001282 RPA|REFPROT:NP_001273 DBA|XM:NM_001282 |NA:AY341427 |NA:BC006201 |NA:BC012150 |NA:M34175 |NA:none PAC|XP:NP_001273 SYM|AP2B1 NAM|adaptor-related protein complex 2, beta 1 subunit SYN|ADTB2 |CLAPB1 |AP2-BETA FNC|adaptor-related protein complex 2, beta 1 subunit REAB|The beta adaptin subunit is part of the clathrin coat assembly complex which links |clathrin to receptors in coated pits and vesicles. These vesicles are involved in |endocytosis and Golgi processing. The beta 1 subunit is one of the assembly proteins |which binds to clathrin and initiates coat formation. CHR|17 PRD|adaptin, beta 2 (beta) |clathrin-associated/assembly/adaptor protein, large, beta 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370123 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=163[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433858 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001282 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001282 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370123 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24854 DBL|UNIGENE:Hs.370123 |OMIM:601025 |SNP:163 MAP|17q11.2-q12 HG|species == Mouse; gene == Ap2b1; score == 1729; expect == 0.0; MEOW:MGgn0016676 (99%) |species == rat; score == 1727; expect == 0.0; MEOW:ref|NP_542150.1| (98%) |species == rat; score == 1679; expect == 0.0; MEOW:ref|XP_214419.2| (97%) |species == rat; score == 1624; expect == 0.0; MEOW:ref|XP_214481.2| (92%) |species == Human; gene == AP1B1; score == 1471; expect == 0.0; MEOW:HUgn0000162 (82%) |species == Mouse; gene == Ap1b1; score == 1464; expect == 0.0; MEOW:MGgn0000414 (83%) |species == rat; score == 1446; expect == 0.0; MEOW:ref|NP_058973.1| (82%) |species == Human; gene == LOC347530; score == 1436; expect == 0.0; MEOW:HUgn0347530 (85%) |species == Mosquito; gene == LOC13886; score == 1253; expect == 0.0; MEOW:AGgn0013886 (69%) |species == Fruitfly; gene == Bap; score == 1253; expect == 0.0; MEOW:FBgn0010380 (72%) |species == Worm; gene == apt-3; score == 1122; expect == 0.0; MEOW:CEgn0030524 (62%) |species == Weed; gene == At4g11380; score == 952; expect == 0.0; MEOW:ATgn0018337 (57%) |species == Weed; gene == At4g23460; score == 940; expect == 0.0; MEOW:ATgn0017959 (56%) |species == rice; score == 913; expect == 0.0; MEOW:gnl|TIGR|8360.m02169 (55%) |species == Yeast; gene == APL2; score == 444; expect == 8e-125; MEOW:SGgn0001618 (40%) } # EOR GENR { RETE|ID 1 HUgn0000164 CHR 1 16 DID 1 LocusLink:164 MAP 1 16q23 NAM 1 adaptor-related protein complex 1, gamma 1 subunit ORG 1 Homo sapiens SYM 1 AP1G1 ID|HUgn0000164 DID|LocusLink:164 ORG|Homo sapiens RSQ|REFSEQ:NM_001128 RPA|REFPROT:NP_001119 DBA|XM:NM_001128 |NA:AJ224112 |NA:AJ224113 |NA:AJ224114 |NA:AB015317 |NA:AK025020 |NA:AK128078 |NA:AL110198 |NA:BC003414 |NA:BC036283 |NA:BC051747 |NA:BU902252 |NA:Y12226 |NA:none |NA:AK055122 PAC|XP:NP_001119 SYM|AP1G1 NAM|adaptor-related protein complex 1, gamma 1 subunit SYN|ADTG |CLAPG1 |MGC18255 FNC|adaptor-related protein complex 1, gamma 1 subunit |endocytosis ; GO:0006897 |intracellular protein transport ; GO:0006886 REAB|Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor |complexes from the plasma membrane or from the trans-Golgi network to lysosomes. |The adaptin family of proteins is composed of four classes of molecules named alpha, |beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small |subunits, form a heterotetrameric complex called an adaptor, whose role is to promote |the formation of clathrin-coated pits and vesicles. The protein encoded by this |gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits |family. CHR|16 PRD|gamma adaptin |golgi adaptor HA1/AP1 adaptin gamma subunit |clathrin assembly protein complex 1 gamma large chain |clathrin-associated/assembly/adaptor protein, large, gamma 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5344 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=164[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001128 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001128 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5344 DBL|UNIGENE:Hs.5344 |OMIM:603533 |SNP:164 MAP|16q23 ENZ|protein transporter activity ; GO:0008565 CEL|clathrin adaptor ; GO:0005906 |coated pit ; GO:0005905 |Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Ap1g1; score == 1478; expect == 0.0; MEOW:MGgn0000415 (98%) |species == Human; gene == AP1G2; score == 882; expect == 0.0; MEOW:HUgn0008906 (58%) |species == rat; score == 878; expect == 0.0; MEOW:ref|XP_214197.2| (58%) |species == Fruitfly; gene == AP-1&ggr;; score == 751; expect == 0.0; MEOW:FBgn0030089 (60%) |species == Mosquito; gene == LOC11401; score == 740; expect == 0.0; MEOW:AGgn0011401 (65%) |species == Weed; gene == At1g60070; score == 680; expect == 0.0; MEOW:ATgn0004659 (45%) |species == Weed; gene == At1g23900; score == 647; expect == 0.0; MEOW:ATgn0006688 (45%) |species == Mosquito; gene == LOC14891; score == 644; expect == 0.0; MEOW:AGgn0014891 (55%) |species == rice; score == 639; expect == 0.0; MEOW:gnl|TIGR|8354.m00608 (43%) |species == rice; score == 585; expect == 6e-167; MEOW:gnl|TIGR|8351.m05386 (41%) |species == Yeast; gene == APL4; score == 314; expect == 3.2e-86; MEOW:SGgn0006233 (34%) } # EOR GENR { RETE|ID 1 HUgn0000165 CHR 1 7 DID 1 LocusLink:165 MAP 1 7p13 NAM 1 AE binding protein 1 ORG 1 Homo sapiens SYM 1 AEBP1 ID|HUgn0000165 DID|LocusLink:165 ORG|Homo sapiens RSQ|REFSEQ:NM_001129 RPA|REFPROT:NP_001120 DBA|XM:NM_001129 |XM:NM_001129 |NA:AF053944 |NA:AK127541 |NA:BC038588 |NA:D86479 PAC|XP:NP_001120 |XP:NP_001120 SYM|AEBP1 NAM|AE binding protein 1 SYN|ACLP FNC|adipocyte enhancer binding protein 1 precursor |muscle development ; GO:0007517 |proteolysis and peptidolysis ; GO:0006508 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |cell adhesion ; GO:0007155 REAB|The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase |(CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 |(AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which |encodes the adipocyte fatty-acid binding protein. It is characterized as a member |of the regulatory B-like CP family. This protein seems to be activated by a novel |mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer |binding protein 1 may play a role in differentiated vascular smooth muscle cells. CHR|7 PRD|AE-binding protein 1 |aortic carboxypeptidase-like protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=165[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835157 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001129 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001129 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439463 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24604 DBL|UNIGENE:Hs.439463 |OMIM:602981 |SNP:165 MAP|7p13 ENZ|carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |transcription factor activity ; GO:0003700 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Aebp1; score == 1468; expect == 0.0; MEOW:MGgn0000207 (82%) |species == rat; score == 1351; expect == 0.0; MEOW:ref|XP_223583.2| (85%) |species == Mouse; gene == Cpxm2; score == 756; expect == 0.0; MEOW:MGgn0022932 (59%) |species == Mouse; gene == Cpxm1; score == 654; expect == 0.0; MEOW:MGgn0040099 (52%) |species == Human; gene == CPXM; score == 650; expect == 0.0; MEOW:HUgn0056265 (52%) |species == Human; gene == LOC119587; score == 533; expect == 2e-151; MEOW:HUgn0119587 (58%) |species == Mosquito; gene == LOC17539; score == 250; expect == 1.1e-66; MEOW:AGgn0017539 (33%) |species == Fruitfly; gene == svr; score == 245; expect == 5.5e-65; MEOW:FBgn0004648 (35%) |species == Mosquito; gene == LOC1195; score == 236; expect == 3.2e-62; MEOW:AGgn0001195 (35%) |species == Worm; gene == F59A3.1; score == 221; expect == 1.3e-57; MEOW:CEgn0012457 (33%) |species == Worm; gene == T27A8.1; score == 214; expect == 6.9e-56; MEOW:CEgn0017058 (33%) |species == Weed; gene == At1g71696; score == 159; expect == 2.3e-39; MEOW:ATgn0027198 (28%) } # EOR GENR { RETE|ID 1 HUgn0000166 CHR 1 19 DID 1 LocusLink:166 MAP 1 19p13.3 NAM 1 amino-terminal enhancer of split ORG 1 Homo sapiens SYM 1 AES ID|HUgn0000166 DID|LocusLink:166 ORG|Homo sapiens RSQ|REFSEQ:NM_001130 RPA|REFPROT:NP_001121 DBA|XM:NM_001130 |NA:AC005944 |NA:U88832 |NA:AF072902 |NA:AF269289 |NA:AK094591 |NA:AK095154 |NA:U04241 |NA:X73358 |NA:none PAC|XP:NP_001121 SYM|AES NAM|amino-terminal enhancer of split FNC|amino-terminal enhancer of split REAB|Amino-terminal enhancer of split is similar to the Drosophila enhancer of split groucho |protein. The function of AES has not been determined but it has been proposed as |a candidate tumor human cancer antigen. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446610 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=166[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:249182 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001130 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001130 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24606 DBL|UNIGENE:Hs.446610 |OMIM:600188 |SNP:166 MAP|19p13.3 HG|species == Zfish; gene == chico; score == 254; expect == 1.2e-69; MEOW:ZFgn0000723 (79%) |species == Human; gene == TLE2; score == 202; expect == 5.6e-52; MEOW:HUgn0007089 (71%) |species == Mouse; gene == Tle1; score == 195; expect == 1.0e-50; MEOW:MGgn0012360 (62%) |species == Human; gene == TLE1; score == 193; expect == 4.4e-50; MEOW:HUgn0007088 (64%) |species == Human; gene == TLE3; score == 188; expect == 1.8e-48; MEOW:HUgn0007090 (55%) |species == rat; score == 188; expect == 1.9e-48; MEOW:ref|NP_445852.1| (55%) |species == Human; gene == LOC286449; score == 185; expect == 1.5e-47; MEOW:HUgn0286449 (60%) |species == Mouse; gene == Tle3; score == 180; expect == 2.6e-46; MEOW:MGgn0012362 (56%) |species == Mosquito; gene == LOC1579; score == 173; expect == 3.5e-43; MEOW:AGgn0001579 (61%) |species == Mouse; gene == Tle2; score == 173; expect == 3.1e-44; MEOW:MGgn0012361 (61%) |species == Fruitfly; gene == gro; score == 165; expect == 7.3e-41; MEOW:FBgn0001139 (69%) |species == rat; score == 159; expect == 1.2e-39; MEOW:ref|NP_062014.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0000167 CHR 1 6 DID 1 LocusLink:167 MAP 1 6p21.3 NAM 1 cysteine-rich secretory protein 1 ORG 1 Homo sapiens SYM 1 CRISP1 ID|HUgn0000167 DID|LocusLink:167 ORG|Homo sapiens RSQ|REFSEQ:NM_001131 |REFSEQ:NM_170609 RPA|REFPROT:NP_001122 |REFPROT:NP_733758 DBA|XM:NM_001131 |XM:NM_170609 |NA:AL359458 |NA:BC028577 |NA:D38451 |NA:S80310 |NA:X95237 |NA:X95238 |NA:none PAC|XP:NP_001122 |XP:NP_733758 SYM|CRISP1 NAM|cysteine-rich secretory protein 1 SYN|ARP |AEGL1 |HUMARP |CRISP-1 |HSCRISP1D |HSCRISP1G FNC|acidic epididymal glycoprotein-like 1 isoform 1 precursor |acidic epididymal glycoprotein-like 1 isoform 2 precursor |fusion of sperm to egg plasma membrane ; GO:0007342 |spermatogenesis ; GO:0007283 REAB|Fertilization consists of a sequence of specific cell-cell interactions culminating |in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion |occur through the interaction of complementary molecules that are localized to specific |domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region |or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein |encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) |family. This protein is expressed in the epididymis, is secreted into the epididymal |lumen, and binds to the postacrosomal region of the sperm head where it plays a |role at fertilization in sperm-egg fusion through complementary sites localized |on the egg surface. Two isoforms are encoded by transcript variants of this gene. CHR|6 PRD|protein DE-like |AEG-related protein |acidic epididymal glycoprotein-like 1 |cysteine-rich secretory protein-1 delta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109620 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=167[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642057 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001131 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001131 DBL|UNIGENE:Hs.109620 |OMIM:601193 |SNP:167 MAP|6p21.3 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == 9230112K08Rik; score == 328; expect == 1.7e-90; MEOW:MGgn0027077 (64%) |species == Human; gene == CRISP2; score == 216; expect == 1.2e-56; MEOW:HUgn0007180 (45%) |species == rat; score == 200; expect == 6.9e-52; MEOW:ref|XP_346849.1| (40%) |species == Human; gene == CRISP3; score == 198; expect == 3.4e-51; MEOW:HUgn0010321 (44%) |species == rat; score == 188; expect == 2.1e-48; MEOW:ref|XP_346850.1| (40%) |species == rat; score == 166; expect == 1.4e-41; MEOW:ref|XP_346022.1| (40%) } # EOR GENR { RETE|ID 1 HUgn0000168 DID 1 LocusLink:168 NAM 1 acrodermatitis enteropathica, zinc-deficiency type ORG 1 Homo sapiens SYM 1 AEZ ID|HUgn0000168 DID|LocusLink:168 ORG|Homo sapiens SYM|AEZ NAM|acrodermatitis enteropathica, zinc-deficiency type DBL|OMIM:201100 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128360 } # EOR GENR { RETE|ID 1 HUgn0000169 CHR 1 3 DID 1 LocusLink:169 MAP 1 3 NAM 1 AF8 temperature sensitivity complementing ORG 1 Homo sapiens SYM 1 AF8T ID|HUgn0000169 DID|LocusLink:169 ORG|Homo sapiens SYM|AF8T NAM|AF8 temperature sensitivity complementing CHR|3 PRD|Temperature sensitive, tsAF8, complement DBL|OMIM:116950 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118980 } # EOR GENR { RETE|ID 1 HUgn0000170 DID 1 LocusLink:170 NAM 1 ankyloblepharon filiforme adnatum ORG 1 Homo sapiens SYM 1 AFA ID|HUgn0000170 DID|LocusLink:170 ORG|Homo sapiens SYM|AFA NAM|ankyloblepharon filiforme adnatum DBL|OMIM:106250 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265277 } # EOR GENR { RETE|ID 1 HUgn0000171 CHR 1 9 DID 1 LocusLink:171 MAP 1 9q32 NAM 1 acrofacial dysostosis 1, Nager type ORG 1 Homo sapiens SYM 1 AFD1 ID|HUgn0000171 DID|LocusLink:171 ORG|Homo sapiens SYM|AFD1 NAM|acrofacial dysostosis 1, Nager type SYN|AFDN CHR|9 DBL|OMIM:154400 MAP|9q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265292 } # EOR GENR { RETE|ID 1 HUgn0000172 CHR 1 16 DID 1 LocusLink:172 MAP 1 16q24 NAM 1 AFG3 ATPase family gene 3-like 1 (yeast) ORG 1 Homo sapiens SYM 1 AFG3L1 ID|HUgn0000172 DID|LocusLink:172 ORG|Homo sapiens RSQ|REFSEQ:NM_001132 RPA|REFPROT:NP_001123 DBA|XM:NM_001132 |NA:AJ001496 |NA:AF329691 |NA:AF329692 |NA:AF329693 |NA:AF329694 |NA:AJ001495 |NA:AK056488 |NA:AK091293 |NA:AK097044 |NA:AK126911 |NA:AK128352 |NA:AK128804 |NA:AL832984 |NA:BC021245 |NA:BC045753 |NA:none PAC|XP:NP_001123 SYM|AFG3L1 NAM|AFG3 ATPase family gene 3-like 1 (yeast) SYN|AFG3 FNC|AFG3 ATPase family gene 3-like 1 CHR|16 PRD|ATPase family gene 3, yeast, homolog of |AFG3 (ATPase family gene 3, yeast)-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=337620 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=172[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045053 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001132 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001132 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=337620 DBL|UNIGENE:Hs.337620 |OMIM:603020 |SNP:172 MAP|16q24 HG|species == Mouse; gene == Afg3l1; score == 139; expect == 5.1e-34; MEOW:MGgn0039515 (84%) |species == rat; score == 139; expect == 7.7e-34; MEOW:ref|XP_341715.1| (84%) } # EOR GENR { RETE|ID 1 HUgn0000173 CHR 1 4 DID 1 LocusLink:173 MAP 1 4q11-q13 NAM 1 afamin ORG 1 Homo sapiens SYM 1 AFM ID|HUgn0000173 DID|LocusLink:173 ORG|Homo sapiens RSQ|REFSEQ:NM_001133 RPA|REFPROT:NP_001124 DBA|XM:NM_001133 |NA:U51243 |NA:L35486 |NA:L35497 |NA:L35498 |NA:none PAC|XP:NP_001124 SYM|AFM NAM|afamin SYN|ALF |ALB2 |ALBA FNC|afamin precursor |transport ; GO:0006810 REAB|This gene is a member of the albumin gene family, which is comprised of four genes |that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related |serum transport proteins that are known to be evolutionarily related. The protein |encoded by this gene is regulated developmentally, expressed in the liver and secreted |into the bloodstream. CHR|4 PRD|alpha-albumin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=168718 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=173[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:376475 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001133 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001133 DBL|UNIGENE:Hs.168718 |OMIM:104145 |SNP:173 MAP|4q11-q13 ENZ|carrier activity ; GO:0005386 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 864; expect == 0.0; MEOW:ref|NP_758823.1| (67%) |species == Mouse; gene == Afm; score == 831; expect == 0.0; MEOW:MGgn0042086 (67%) |species == chimp; score == 483; expect == 1e-136; MEOW:sp|Q28789|FETA_PANTR (39%) |species == Human; gene == AFP; score == 480; expect == 8e-136; MEOW:HUgn0000174 (39%) |species == Human; gene == ALB; score == 412; expect == 2e-115; MEOW:HUgn0000213 (35%) } # EOR GENR { RETE|ID 1 HUgn0000174 CHR 1 4 DID 1 LocusLink:174 MAP 1 4q11-q13 NAM 1 alpha-fetoprotein ORG 1 Homo sapiens SYM 1 AFP ID|HUgn0000174 DID|LocusLink:174 ORG|Homo sapiens RSQ|REFSEQ:NM_001134 RPA|REFPROT:NP_001125 DBA|XM:NM_001134 |NA:M10949 |NA:M10950 |NA:M16110 |NA:Z19532 |NA:BC027881 |NA:V01514 |NA:none PAC|XP:NP_001125 SYM|AFP NAM|alpha-fetoprotein SYN|FETA |HPAFP FNC|alpha-fetoprotein precursor |transport ; GO:0006810 |immune response ; GO:0006955 REAB|This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk |sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often |associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein |may also be found in individuals with no obvious pathology. The protein is thought |to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin |genes are present in tandem in the same transcriptional orientation on chromosome |4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, |and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein |in amniotic fluid is used to measure renal loss of protein to screen for spina bifida |and anencephaly. CHR|4 PRD|alpha-fetoglobulin |alpha-1-fetoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155421 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=174[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001134 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001134 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155421 DBL|UNIGENE:Hs.155421 |OMIM:104150 |SNP:174 |UWCM:119660.html MAP|4q11-q13 PHP|AFP deficiency, congenital |Hereditary persistence of alpha-fetoprotein ENZ|carrier activity ; GO:0005386 |nickel ion binding ; GO:0016151 CEL|extracellular space ; GO:0005615 HG|species == chimp; score == 1225; expect == 0.0; MEOW:sp|Q28789|FETA_PANTR (99%) |species == rat; score == 827; expect == 0.0; MEOW:ref|NP_036625.1| (65%) |species == Mouse; gene == Afp; score == 825; expect == 0.0; MEOW:MGgn0000215 (65%) |species == Human; gene == ALB; score == 500; expect == 8e-142; MEOW:HUgn0000213 (40%) |species == Human; gene == AFM; score == 480; expect == 8e-136; MEOW:HUgn0000173 (39%) } # EOR GENR { RETE|ID 1 HUgn0000175 CHR 1 4 DID 1 LocusLink:175 MAP 1 4q32-q33 NAM 1 aspartylglucosaminidase ORG 1 Homo sapiens SYM 1 AGA ID|HUgn0000175 DID|LocusLink:175 ORG|Homo sapiens RSQ|REFSEQ:NM_000027 RPA|REFPROT:NP_000018 DBA|XM:NM_000027 |NA:U21273 |NA:U21274 |NA:U21275 |NA:U21276 |NA:U21277 |NA:U21278 |NA:U21279 |NA:U21280 |NA:U21281 |NA:X61959 |NA:BC012392 |NA:M64073 |NA:M64075 |NA:M64076 |NA:X55762 |NA:X73071 |NA:none PAC|XP:NP_000018 SYM|AGA NAM|aspartylglucosaminidase SYN|AGU FNC|aspartylglucosaminidase precursor |protein deglycosylation ; GO:0006517 REAB|Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides |of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the |final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage |disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. CHR|4 PRD|glycosylasparaginase |aspartylglycosaminuria |aspartylglucosylamine deaspartylase |N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=207776 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=175[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118981 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000027 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000027 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=207776 |http://www.geneclinics.org/query?mim=208400 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00511 DBL|UNIGENE:Hs.207776 |OMIM:208400 |SNP:175 |UWCM:118981.html ENZ|EC:3.5.1.26 |N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity ; GO:0003948 |hydrolase activity ; GO:0016787 MAP|4q32-q33 PHP|Aspartylglucosaminuria CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Aga; score == 540; expect == 4e-154; MEOW:MGgn0000232 (82%) |species == rat; score == 527; expect == 4e-150; MEOW:ref|XP_214403.2| (77%) |species == Mosquito; gene == LOC16583; score == 340; expect == 8.3e-94; MEOW:AGgn0016583 (56%) |species == Fruitfly; gene == CG1827; score == 339; expect == 1.4e-93; MEOW:FBgn0033431 (55%) |species == rice; score == 300; expect == 1.3e-81; MEOW:gnl|TIGR|8352.m04292 (50%) |species == Weed; gene == At5g61540; score == 296; expect == 1.6e-80; MEOW:ATgn0021672 (47%) |species == Worm; gene == R04B3.2; score == 287; expect == 9.4e-78; MEOW:CEgn0014358 (48%) |species == Fruitfly; gene == CG10474; score == 279; expect == 1.8e-75; MEOW:FBgn0034427 (50%) } # EOR GENR { RETE|ID 1 HUgn0000176 CHR 1 15 DID 1 LocusLink:176 MAP 1 15q26.1 NAM 1 aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122) ORG 1 Homo sapiens SYM 1 AGC1 ID|HUgn0000176 DID|LocusLink:176 ORG|Homo sapiens RSQ|REFSEQ:NM_001135 |REFSEQ:NM_013227 RPA|REFPROT:NP_001126 |REFPROT:NP_037359 DBA|XM:NM_001135 |XM:NM_013227 |NA:L29488 |NA:S74659 |NA:J05062 |NA:M55172 |NA:U13192 |NA:X17406 |NA:none PAC|XP:NP_001126 |XP:NP_037359 SYM|AGC1 NAM|aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122) SYN|CSPG1 |MSK16 |CSPGCP FNC|aggrecan 1 isoform 1 precursor |aggrecan 1 isoform 2 precursor |cell adhesion ; GO:0007155 |heterophilic cell adhesion ; GO:0007157 REAB|Aggrecan 1 is a member of the aggrecan/versican proteoglycan family. As an integral |part of the extracellular matrix in cartilagenous tissue, the function of aggrecan |1 is to withstand compression in cartilage. Mutations in this gene may be involved |in skeletal dysplasia and spinal degeneration. Alternative splicing of two domains |has been observed in the aggrecan 1 gene; however, it is unknown whether other transcripts |exist or what effects they have on gene function. CHR|15 PRD|chondroitin sulfate proteoglycan 1, large aggregating proteoglycan |Aggrecan-1 (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2159 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=176[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127479 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013227 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013227 DBL|UNIGENE:Hs.2159 |OMIM:155760 |SNP:176 MAP|15q26.1 ENZ|sugar binding ; GO:0005529 |hyaluronic acid binding ; GO:0005540 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 2085; expect == 0.0; MEOW:ref|NP_071526.1| (56%) |species == Mouse; gene == Agc1; score == 1794; expect == 0.0; MEOW:MGgn0000234 (56%) |species == Human; gene == BCAN; score == 364; expect == 5e-100; MEOW:HUgn0063827 (49%) |species == Human; gene == CSPG2; score == 360; expect == 6.2e-99; MEOW:HUgn0001462 (42%) |species == Human; gene == CSPG3; score == 325; expect == 2.5e-88; MEOW:HUgn0001463 (50%) } # EOR GENR { RETE|ID 1 HUgn0000177 CHR 1 6 DID 1 LocusLink:177 MAP 1 6p21.3 NAM 1 advanced glycosylation end product-specific receptor ORG 1 Homo sapiens SYM 1 AGER ID|HUgn0000177 DID|LocusLink:177 ORG|Homo sapiens RSQ|REFSEQ:NM_001136 |REFSEQ:NM_172197 RPA|REFPROT:NP_001127 |REFPROT:NP_751947 DBA|XM:NM_001136 |XM:NM_172197 |NA:AF001095 |NA:AF208289 |NA:AJ238896 |NA:D28769 |NA:U89336 |NA:AB036432 |NA:AB061668 |NA:AB061669 |NA:AJ133822 |NA:BC020669 |NA:M91211 |NA:none PAC|XP:NP_001127 |XP:NP_751947 SYM|AGER NAM|advanced glycosylation end product-specific receptor SYN|RAGE |MGC22357 FNC|advanced glycosylation end product-specific receptor isoform 1 precursor |advanced glycosylation end product-specific receptor isoform 2 precursor |cell surface receptor linked signal transduction ; GO:0007166 |inflammatory response ; GO:0006954 REAB|This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. |It is a receptor for various molecules, including the amyloidogenic form of serum |amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and |advanced glycation end products. The gene lies within the major histocompatibility |complex (MHC) class III region on chromosome 6. Alternative splicing results in |two transcript variants encoding different isoforms. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=177[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:306354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001136 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001136 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=184 DBL|UNIGENE:Hs.184 |OMIM:600214 |SNP:177 MAP|6p21.3 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 561; expect == 2e-160; MEOW:ref|NP_445788.1| (77%) |species == Mouse; gene == Ager; score == 531; expect == 2e-151; MEOW:MGgn0000235 (77%) } # EOR GENR { RETE|ID 1 HUgn0000178 CHR 1 1 DID 1 LocusLink:178 MAP 1 1p21 NAM 1 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) ORG 1 Homo sapiens SYM 1 AGL ID|HUgn0000178 DID|LocusLink:178 ORG|Homo sapiens RSQ|REFSEQ:NM_000028 |REFSEQ:NM_000642 |REFSEQ:NM_000643 |REFSEQ:NM_000644 |REFSEQ:NM_000645 |REFSEQ:NM_000646 RPA|REFPROT:NP_000019 |REFPROT:NP_000633 |REFPROT:NP_000634 |REFPROT:NP_000635 |REFPROT:NP_000636 |REFPROT:NP_000637 DBA|XM:NM_000028 |XM:NM_000642 |XM:NM_000643 |XM:NM_000644 |XM:NM_000645 |XM:NM_000646 |NA:M85168 |NA:U84007 |NA:U84008 |NA:U84009 |NA:U84010 |NA:U84011 |NA:none PAC|XP:NP_000019 |XP:NP_000633 |XP:NP_000634 |XP:NP_000635 |XP:NP_000636 |XP:NP_000637 SYM|AGL NAM|amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SYN|GDE FNC|amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform 1 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 2 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 3 |glycogen biosynthesis ; GO:0005978 |carbohydrate metabolism ; GO:0005975 REAB|Glycogen debranching enzyme is involved in glycogen degradation and has two independent |catalytic activities: a 4-alpha-glucotransferase activity (EC 2.4.1.25) and a amylo-1,6-glucosidase |activity (EC 3.4.1.33). Both activities occur at different sites on the single |polypeptide chain. Mutations in this gene cause glycogen storage disease. A wide |range of clinical and enzymatic variability occurs in glycogen debrancher deficiency, |some of which may be due to tissue-specific alternative splicing. Six splice varients |that differ in the 5' end have been identified in liver and muscle tissue. Variants |1, 5, and 6 are present in both liver and muscle, whereas variants 2, 3, and 4 occur |in muscle. Variants 1 through 4 encode identical proteins (isoform 1) that include |27 N-terminal amino acids not found in splice variants 5 and 6. Variants 5 and |6 encode different amino-terminal ends of 10 and 11 amino acids in protein isoforms |2 and 3, respectively, with the remainder of the peptide identical to that of isoforms |1. CHR|1 PRD|glycogen debranching enzyme |Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) |amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=904 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=178[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000028 |http://www.geneclinics.org/query?mim=232400 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.904 |OMIM:232400 |SNP:178 ENZ|EC:2.4.1.25 |EC:3.2.1.33 |4-alpha-glucanotransferase activity ; GO:0004134 |amylo-alpha-1,6-glucosidase activity ; GO:0004135 |transferase activity, transferring glycosyl groups ; GO:0016757 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 MAP|1p21 PHP|Glycogen storage disease IIIa |Glycogen storage disease IIIb CEL|debranching enzyme ; GO:0005957 HG|species == rat; score == 2900; expect == 0.0; MEOW:ref|XP_342332.1| (88%) |species == Mosquito; score == 1345; expect == 0.0; MEOW:AGgn0013922 (45%) |species == Worm; gene == R06A4.8; score == 1216; expect == 0.0; MEOW:CEgn0014480 (43%) |species == Yeast; gene == GDB1; score == 926; expect == 0.0; MEOW:SGgn0006388 (38%) |species == Fruitfly; gene == CG9485; score == 691; expect == 0.0; MEOW:FBgn0034618 (48%) } # EOR GENR { RETE|ID 1 HUgn0000179 CHR 1 X DID 1 LocusLink:179 MAP 1 Xp22 NAM 1 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) ORG 1 Homo sapiens SYM 1 AGMX2 ID|HUgn0000179 DID|LocusLink:179 ORG|Homo sapiens SYM|AGMX2 NAM|agammaglobulinemia, X-linked 2 (with growth hormone deficiency) SYN|IMD6 |XLA2 CHR|X DBL|OMIM:300310 MAP|Xp22 PHP|Agammaglobulinemia, type 2, X-linked URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119661 } # EOR GENR { RETE|ID 1 HUgn0000181 CHR 1 16 DID 1 LocusLink:181 MAP 1 16q22 NAM 1 agouti related protein homolog (mouse) ORG 1 Homo sapiens SYM 1 AGRP ID|HUgn0000181 DID|LocusLink:181 ORG|Homo sapiens RSQ|REFSEQ:NM_001138 |REFSEQ:NM_007316 RPA|REFPROT:NP_001129 |REFPROT:NP_015531 DBA|XM:NM_001138 |XM:NM_007316 |NA:AF314194 |NA:U88063 |NA:U89485 |NA:none PAC|XP:NP_001129 |XP:NP_015531 SYM|AGRP NAM|agouti related protein homolog (mouse) SYN|ART |AGRT |ASIP2 FNC|agouti related protein homolog isoform 1 |agouti related protein homolog isoform 2 |neuropeptide signaling pathway ; GO:0007218 |feeding behavior ; GO:0007631 REAB|Agouti-related protein is an antagonist of the melanocortin-3 and melanocortin-4 |receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin |receptor and/or intracellular calcium regulation. Agouti-related protein is alternatively |spliced into 2 variants which differ in 5' untranslated sequence length. CHR|16 PRD|Agrt |agouti (mouse) related protein |Agouti-related transcript, mouse, homolog of URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104633 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=181[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848638 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001138 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001138 DBL|UNIGENE:Hs.104633 |OMIM:602311 |SNP:181 MAP|16q22 PHP|Obesity, late-onset ENZ|neuropeptide hormone activity ; GO:0005184 |receptor binding ; GO:0005102 HG|species == Mouse; gene == Agrp; score == 194; expect == 1.4e-50; MEOW:MGgn0000244 (81%) |species == rat; score == 161; expect == 1.1e-39; MEOW:ref|XP_214672.2| (70%) } # EOR GENR { RETE|ID 1 HUgn0000182 CHR 1 20 DID 1 LocusLink:182 MAP 1 20p12.1-p11.23 NAM 1 jagged 1 (Alagille syndrome) ORG 1 Homo sapiens SYM 1 JAG1 ID|HUgn0000182 DID|LocusLink:182 ORG|Homo sapiens RSQ|REFSEQ:NM_000214 RPA|REFPROT:NP_000205 DBA|XM:NM_000214 |NA:AF003837 |NA:AF028593 |NA:U61276 |NA:U73936 |NA:U77720 |NA:U77914 PAC|XP:NP_000205 SYM|JAG1 NAM|jagged 1 (Alagille syndrome) SYN|AGS |AHD |AWS |HJ1 |JAGL1 FNC|jagged 1 precursor REAB|The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged |protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human |homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged |1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also |been shown to play a role in hematopoiesis. CHR|20 PRD|jagged1 (Alagille syndrome) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=182[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6175920 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000214 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000214 |http://www.geneclinics.org/query?mim=601920 DBL|UNIGENE:Hs.409202 |OMIM:601920 |SNP:182 MAP|20p12.1-p11.23 PHP|Alagille syndrome |Deafness, congenital heart defects, and posterior embryotoxon |Tetralogy of Fallot HG|species == Mouse; gene == Jag1; score == 2601; expect == 0.0; MEOW:MGgn0006627 (96%) |species == rat; score == 2594; expect == 0.0; MEOW:ref|NP_062020.1| (96%) |species == Zfish; gene == jag3; score == 2064; expect == 0.0; MEOW:ZFgn0002399 (74%) |species == Zfish; gene == jag1; score == 1859; expect == 0.0; MEOW:ZFgn0002410 (66%) |species == Human; gene == JAG2; score == 1449; expect == 0.0; MEOW:HUgn0003714 (53%) |species == Fruitfly; gene == Ser; score == 727; expect == 0.0; MEOW:FBgn0004197 (32%) |species == Mosquito; gene == LOC11235; score == 613; expect == 1e-175; MEOW:AGgn0011235 (34%) |species == Mosquito; gene == LOC5397; score == 563; expect == 2e-160; MEOW:AGgn0005397 (35%) |species == Worm; gene == lin-12; score == 327; expect == 1.4e-89; MEOW:CEgn0001831 (30%) |species == Worm; gene == W02C12.1; score == 321; expect == 2.1e-87; MEOW:CEgn0017372 (36%) |species == Worm; gene == crb-1; score == 282; expect == 1.4e-75; MEOW:CEgn0008203 (31%) } # EOR GENR { RETE|ID 1 HUgn0000183 CHR 1 1 DID 1 LocusLink:183 MAP 1 1q42-q43 NAM 1 angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) ORG 1 Homo sapiens SYM 1 AGT ID|HUgn0000183 DID|LocusLink:183 ORG|Homo sapiens RSQ|REFSEQ:NM_000029 RPA|REFPROT:NP_000020 DBA|XM:NM_000029 |NA:M24689 |NA:X15324 |NA:BC011519 |NA:BT006851 |NA:K02215 |NA:M69110 |NA:none PAC|XP:NP_000020 SYM|AGT NAM|angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) SYN|ANHU |SERPINA8 FNC|angiotensinogen precursor |regulation of blood pressure ; GO:0008217 |pregnancy ; GO:0007565 |cell surface receptor linked signal transduction ; GO:0007166 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, |is expressed in the liver and is cleaved by the enzyme renin in response to lowered |blood pressure. The resulting product, angiotensin I is then cleaved by angiotensin |converting enzyme (ACE) to generate the physiologically active enzyme angiotensin |II. The protein is involved in maintaining blood pressure and in the pathogenesis |of essential hypertension and preeclampsia. CHR|1 PRD|angiotensin I |pre-angiotensinogen |angiotensin II precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19383 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=183[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118750 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000029 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000029 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19383 |http://www.geneclinics.org/query?mim=106150 DBL|UNIGENE:Hs.19383 |OMIM:106150 |SNP:183 MAP|1q42-q43 PHP|Hypertension, essential, susceptibility to |Preeclampsia, susceptibility to ENZ|hormone activity ; GO:0005179 |serine protease inhibitor activity ; GO:0004867 CEL|soluble fraction ; GO:0005625 HG|species == chimp; score == 956; expect == 0.0; MEOW:sp|Q9GLN8|Q9GLN8 (99%) |species == chimp; score == 953; expect == 0.0; MEOW:sp|Q9GLP7|Q9GLP7 (98%) |species == rat; score == 586; expect == 1e-167; MEOW:ref|NP_602308.1| (63%) |species == Mouse; gene == Agt; score == 558; expect == 3e-159; MEOW:MGgn0000245 (60%) |species == chimp; score == 480; expect == 3e-136; MEOW:sp|Q95J13|Q95J13 (98%) } # EOR GENR { RETE|ID 1 HUgn0000184 DID 1 LocusLink:184 NAM 1 angiotensin binding protein ORG 1 Homo sapiens SYM 1 AGTBP ID|HUgn0000184 DID|LocusLink:184 ORG|Homo sapiens SYM|AGTBP NAM|angiotensin binding protein URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:682522 } # EOR GENR { RETE|ID 1 HUgn0000185 CHR 1 3 DID 1 LocusLink:185 MAP 1 3q21-q25 NAM 1 angiotensin II receptor, type 1 ORG 1 Homo sapiens SYM 1 AGTR1 ID|HUgn0000185 DID|LocusLink:185 ORG|Homo sapiens RSQ|REFSEQ:NM_000685 |REFSEQ:NM_004835 |REFSEQ:NM_009585 |REFSEQ:NM_031850 |REFSEQ:NM_032049 RPA|REFPROT:NP_000676 |REFPROT:NP_004826 |REFPROT:NP_033611 |REFPROT:NP_114038 |REFPROT:NP_114438 DBA|XM:NM_000685 |XM:NM_004835 |XM:NM_009585 |XM:NM_031850 |XM:NM_032049 |NA:AF245699 |NA:M91464 |NA:S70433 |NA:U07144 |NA:Z11162 |NA:BC022447 |NA:D13814 |NA:M87290 |NA:M93394 |NA:S77410 |NA:X65699 |NA:none PAC|XP:NP_000676 |XP:NP_004826 |XP:NP_033611 |XP:NP_114038 |XP:NP_114438 SYM|AGTR1 NAM|angiotensin II receptor, type 1 SYN|AT1 |AG2S |AT1B |AT2R1 |HAT1R |AGTR1A |AGTR1B |AT2R1A |AT2R1B FNC|angiotensin II receptor, type 1 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) ; GO:0007200 |fluid secretion ; GO:0007589 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 REAB|Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone |secretion. It is an important effector controlling blood pressure and volume in |the cardiovascular system. It acts through at least two types of receptors. This |gene encodes the type 1 receptor which is thought to mediate the major cardiovascular |effects of angiotensin II. AGTR1 may play role in the generation of reperfusion |arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. |It was previously thought that a related gene AGTR1B exists; however, it is now |believed that there is only one AGTR1 gene. The gene expresses at least four transcript |variants; additional variants have been described but their full length nature has |not been determined. Exon 5 contains the entire coding sequence and is present in |all transcript variants. CHR|3 PRD|angiotensin receptor 1 |angiotensin receptor 1B |type-1B angiotensin II receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89472 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197063 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=185[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132359 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031850 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031850 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89472 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=197063 |http://www.geneclinics.org/query?mim=106165 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA43 DBL|UNIGENE:Hs.89472 |UNIGENE:Hs.197063 |OMIM:106165 |SNP:185 MAP|3q21-q25 PHP|Hypertension, essential ENZ|angiotensin type II receptor activity ; GO:0004945 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Human; gene == RPL38P1; score == 657; expect == 0.0; MEOW:HUgn0116809 (100%) |species == chimp; score == 656; expect == 0.0; MEOW:sp|Q9GLN9|Q9GLN9 (99%) |species == Mouse; gene == Agtr1b; score == 644; expect == 0.0; MEOW:MGgn0000247 (92%) |species == rat; score == 628; expect == 1e-180; MEOW:ref|NP_112247.1| (94%) |species == Mouse; gene == Agtr1; score == 627; expect == 1e-180; MEOW:MGgn0000246 (94%) |species == rat; score == 621; expect == 2e-178; MEOW:ref|NP_112271.1| (94%) |species == Zfish; gene == cxcr4b; score == 136; expect == 1.4e-33; MEOW:ZFgn0002126 (32%) |species == Zfish; gene == cxcr4a; score == 131; expect == 3.5e-32; MEOW:ZFgn0002418 (33%) |species == Fruitfly; gene == AlCR2; score == 130; expect == 8.6e-31; MEOW:FBgn0036789 (31%) } # EOR GENR { RETE|ID 1 HUgn0000186 CHR 1 X DID 1 LocusLink:186 MAP 1 Xq22-q23 NAM 1 angiotensin II receptor, type 2 ORG 1 Homo sapiens SYM 1 AGTR2 ID|HUgn0000186 DID|LocusLink:186 ORG|Homo sapiens RSQ|REFSEQ:NM_000686 RPA|REFPROT:NP_000677 DBA|XM:NM_000686 |NA:L34579 |NA:U10273 |NA:U15592 |NA:U20860 |NA:U27478 |NA:U16957 |NA:none PAC|XP:NP_000677 SYM|AGTR2 NAM|angiotensin II receptor, type 2 SYN|AT2 FNC|angiotensin II receptor, type 2 |regulation of blood pressure ; GO:0008217 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |behavior ; GO:0007610 |apoptosis ; GO:0006915 REAB|Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone |secretion. It is an important effector controlling blood pressure and volume in |the cardiovascular system. It acts through at least two types of receptors termed |AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an |intergral membrane protein. It plays a role in the central nervous system and cardiovascular |functions that are mediated by the renin-angiotensin system. This receptor mediates |programmed cell death (apoptosis). In adults, it is highly expressed in myometrium |with lower levels in adrenal gland and fallopian tube. It is highly expressed in |fetal kidney and intestine. The human AGTR2 gene is composed of three exons and |spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and |exon 3 harbors the entire uninterrupted open reading frame. CHR|X PRD|angiotensin receptor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405348 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=186[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134188 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000686 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000686 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA44 DBL|UNIGENE:Hs.405348 |OMIM:300034 |SNP:186 MAP|Xq22-q23 ENZ|angiotensin type II receptor activity ; GO:0004945 |protein kinase inhibitor activity ; GO:0004860 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 659; expect == 0.0; MEOW:ref|NP_036626.1| (92%) |species == Mouse; gene == Agtr2; score == 657; expect == 0.0; MEOW:MGgn0000248 (91%) |species == Human; gene == AGTR1; score == 191; expect == 5.4e-49; MEOW:HUgn0000185 (37%) |species == Human; gene == RPL38P1; score == 191; expect == 5.4e-49; MEOW:HUgn0116809 (37%) |species == chimp; score == 191; expect == 1.0e-50; MEOW:sp|Q9GLN9|Q9GLN9 (37%) |species == Human; gene == BDKRB2; score == 183; expect == 1.6e-46; MEOW:HUgn0000624 (33%) |species == Human; gene == CCR1; score == 157; expect == 1.1e-38; MEOW:HUgn0001230 (32%) |species == Human; gene == BDKRB1; score == 156; expect == 2.4e-38; MEOW:HUgn0000623 (32%) } # EOR GENR { RETE|ID 1 HUgn0000187 CHR 1 11 DID 1 LocusLink:187 MAP 1 11q12 NAM 1 angiotensin II receptor-like 1 ORG 1 Homo sapiens SYM 1 AGTRL1 ID|HUgn0000187 DID|LocusLink:187 ORG|Homo sapiens RSQ|REFSEQ:NM_005161 RPA|REFPROT:NP_005152 DBA|XM:NM_005161 |NA:U03642 |NA:AK074514 |NA:AK075252 |NA:AK097232 |NA:BC032688 |NA:X89271 |NA:none PAC|XP:NP_005152 SYM|AGTRL1 NAM|angiotensin II receptor-like 1 SYN|APJ |MGC45246 FNC|angiotensin II receptor-like 1 REAB|There are at least two distinct receptor subtypes of angiotensin II: angiotensin |II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of |the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is related |to the AGTR1 gene by sequence similarity. It was cloned based on a conserved transmembrane |domain found in members of the G protein-coupled receptor (GPCR) gene family. CHR|11 PRD|angiotensin receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438311 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=187[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:364121 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005161 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005161 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438311 DBL|UNIGENE:Hs.438311 |OMIM:600052 |SNP:187 MAP|11q12 HG|species == Mouse; gene == Agtrl1; score == 615; expect == 9e-177; MEOW:MGgn0000250 (92%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_112639.1| (89%) |species == Human; gene == AGTR1; score == 154; expect == 1.0e-37; MEOW:HUgn0000185 (33%) |species == Human; gene == RPL38P1; score == 154; expect == 1.0e-37; MEOW:HUgn0116809 (33%) |species == chimp; score == 154; expect == 1.9e-39; MEOW:sp|Q9GLN9|Q9GLN9 (33%) |species == Human; gene == GPR15; score == 138; expect == 4.1e-33; MEOW:HUgn0002838 (30%) |species == chimp; score == 138; expect == 4.1e-33; MEOW:sp|AAD52040|AAD52040 (30%) |species == chimp; score == 138; expect == 4.1e-33; MEOW:sp|Q9BG77|Q9BG77 (30%) |species == Human; gene == CMKLR1; score == 134; expect == 6.2e-32; MEOW:HUgn0001240 (31%) } # EOR GENR { RETE|ID 1 HUgn0000188 CHR 1 22 DID 1 LocusLink:188 MAP 1 22q12.3 NAM 1 angiotensin II receptor-like 2 ORG 1 Homo sapiens SYM 1 AGTRL2 ID|HUgn0000188 DID|LocusLink:188 ORG|Homo sapiens RSQ|REFSEQ:NM_005162 RPA|REFPROT:NP_005153 DBA|XM:NM_005162 |NA:L48211 PAC|XP:NP_005153 SYM|AGTRL2 NAM|angiotensin II receptor-like 2 SYN|ATR2L1 FNC|angiotensin II receptor-like 2 |cell surface receptor linked signal transduction ; GO:0007166 REAB|There are at least two distinct receptor subtypes of angiotensin II: angiotensin |II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of |the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is predicted |to encode a 71-amino acid protein with significant similarity to the carboxyl-terminal |regulatory domain of angiotensin II receptor, type 1. CHR|22 PRD|angiotensin receptor-like 2 |angiotensin II receptor-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433156 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1316745 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005162 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005162 DBL|UNIGENE:Hs.433156 |OMIM:601256 |SNP:188 MAP|22q12.3 ENZ|receptor activity ; GO:0004872 } # EOR GENR { RETE|ID 1 HUgn0000189 CHR 1 2 DID 1 LocusLink:189 MAP 1 2q36-q37 NAM 1 alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) ORG 1 Homo sapiens SYM 1 AGXT ID|HUgn0000189 DID|LocusLink:189 ORG|Homo sapiens RSQ|REFSEQ:NM_000030 RPA|REFPROT:NP_000021 DBA|XM:NM_000030 |NA:M61763 |NA:AF191687 |NA:AF348451 |NA:D13368 |NA:X53414 |NA:X56092 |NA:none PAC|XP:NP_000021 SYM|AGXT NAM|alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) SYN|AGT |SPT |AGT1 |SPAT |TLH6 |AGXT1 FNC|alanine-glyoxylate aminotransferase REAB|The human AGXT protein product is normally localized in the peroxisomes of liver |where it is involved in glyoxylate detoxification. Defects in the AGXT gene, some |of which alter subcellular targetting, are the cause of Oxalosis I. CHR|2 PRD|serine-pyruvate aminotransferase |alanine-glyoxylate aminotransferase, liver-specific peroxisomal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=144567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=189[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127113 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000030 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000030 |http://www.geneclinics.org/query?mim=604285 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.144567 |OMIM:604285 |SNP:189 |UWCM:127113.html ENZ|EC:2.6.1.44 |EC:2.6.1.51 |alanine-glyoxylate transaminase activity ; GO:0008453 MAP|2q36-q37 PHP|Hyperoxaluria, primary, type 1 CEL|peroxisome ; GO:0005777 HG|species == Mouse; gene == Agxt; score == 616; expect == 6e-177; MEOW:MGgn0000251 (76%) |species == rat; score == 611; expect == 2e-175; MEOW:ref|NP_085914.1| (79%) |species == Mosquito; gene == LOC19757; score == 357; expect == 6.3e-99; MEOW:AGgn0019757 (46%) |species == Worm; gene == T14D7.1; score == 343; expect == 1.3e-94; MEOW:CEgn0016193 (44%) |species == Mosquito; gene == LOC15996; score == 329; expect == 1.2e-90; MEOW:AGgn0015996 (46%) |species == Fruitfly; gene == Spat; score == 173; expect == 4.8e-44; MEOW:FBgn0014031 (48%) |species == rice; score == 134; expect == 1.2e-31; MEOW:gnl|TIGR|8356.m03803 (30%) } # EOR GENR { RETE|ID 1 HUgn0000190 CHR 1 X DID 1 LocusLink:190 MAP 1 Xp21.3-p21.2 NAM 1 nuclear receptor subfamily 0, group B, member 1 ORG 1 Homo sapiens SYM 1 NR0B1 ID|HUgn0000190 DID|LocusLink:190 ORG|Homo sapiens RSQ|REFSEQ:NM_000475 RPA|REFPROT:NP_000466 DBA|XM:NM_000475 |NA:U31929 |NA:BC011564 |NA:S74720 |NA:none PAC|XP:NP_000466 SYM|NR0B1 NAM|nuclear receptor subfamily 0, group B, member 1 SYN|AHC |AHX |AHCH |DAX1 |NROB1 FNC|adrenal hypoplasia protein |sex determination ; GO:0007530 |regulation of transcription, DNA-dependent ; GO:0006355 |steroid biosynthesis ; GO:0006694 REAB|Adrenal hypoplasia protein is an orphan nuclear hormone receptor and contains a DNA-binding |domain. The AHC protein acts as a dominant-negative regulator of transcription |which is mediated by the retinoic acid receptor. AHC also functions as an anti-testis |gene by acting antagonistically to Sry. Mutations in AHC result in both X-linked |congenital adrenal hypoplasia and hypogonadotropic hypogonadism. CHR|X PRD|adrenal hypoplasia, congenital URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268490 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=190[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118982 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000475 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000475 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=268490 |http://www.geneclinics.org/query?mim=300200 DBL|UNIGENE:Hs.268490 |OMIM:300200 |SNP:190 |UWCM:118982.html |IXDB:533401 MAP|Xp21.3-p21.2 PHP|Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism |Dosage-sensitive sex reversal ENZ|steroid hormone receptor activity ; GO:0003707 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == chimp; score == 880; expect == 0.0; MEOW:sp|Q9BG97|Q9BG97 (98%) |species == rat; score == 625; expect == 2e-179; MEOW:ref|NP_445769.1| (64%) |species == Mouse; gene == Nr0b1; score == 612; expect == 2e-175; MEOW:MGgn0013421 (65%) |species == Human; gene == NR0B2; score == 138; expect == 7.6e-33; MEOW:HUgn0008431 (39%) } # EOR GENR { RETE|ID 1 HUgn0000191 CHR 1 20 DID 1 LocusLink:191 MAP 1 20cen-q13.1 NAM 1 S-adenosylhomocysteine hydrolase ORG 1 Homo sapiens SYM 1 AHCY ID|HUgn0000191 DID|LocusLink:191 ORG|Homo sapiens RSQ|REFSEQ:NM_000687 RPA|REFPROT:NP_000678 DBA|XM:NM_000687 |NA:AK097610 |NA:BC010018 |NA:BC011606 |NA:BT006697 |NA:M61831 |NA:M61832 |NA:none PAC|XP:NP_000678 SYM|AHCY NAM|S-adenosylhomocysteine hydrolase SYN|SAHH FNC|S-adenosylhomocysteine hydrolase |one-carbon compound metabolism ; GO:0006730 REAB|S-adenosylhomocysteine hydrolase catalyzes the reversible hydrolysis of S-adenosylhomocysteine |(AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular |S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation |reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. |S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. CHR|20 PRD|adenosylhomocysteinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388004 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=191[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118983 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000687 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000687 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388004 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00450 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24636 DBL|UNIGENE:Hs.388004 |OMIM:180960 |SNP:191 ENZ|EC:3.3.1.1 |adenosylhomocysteinase activity ; GO:0004013 |hydrolase activity ; GO:0016787 MAP|20cen-q13.1 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Ahcy; score == 837; expect == 0.0; MEOW:MGgn0000255 (96%) |species == rat; score == 836; expect == 0.0; MEOW:ref|NP_058897.1| (96%) |species == Human; gene == LOC129560; score == 706; expect == 0.0; MEOW:HUgn0129560 (81%) |species == Fruitfly; gene == Ahcy13; score == 688; expect == 0.0; MEOW:FBgn0014455 (80%) |species == Mosquito; score == 684; expect == 0.0; MEOW:AGgn0011950 (79%) |species == Worm; gene == dpy-14; score == 678; expect == 0.0; MEOW:CEgn0000423 (76%) |species == Yeast; gene == SAH1; score == 621; expect == 6e-179; MEOW:SGgn0000845 (71%) |species == Weed; gene == At4g13940; score == 482; expect == 1e-136; MEOW:ATgn0018734 (56%) |species == Weed; gene == At3g23810; score == 476; expect == 1e-134; MEOW:ATgn0015614 (55%) |species == rice; score == 392; expect == 2e-109; MEOW:gnl|TIGR|8358.m01928 (52%) } # EOR GENR { RETE|ID 1 HUgn0000192 CHR 1 X DID 1 LocusLink:192 MAP 1 Xp22 NAM 1 Aicardi syndrome ORG 1 Homo sapiens SYM 1 AIC ID|HUgn0000192 DID|LocusLink:192 ORG|Homo sapiens SYM|AIC NAM|Aicardi syndrome CHR|X DBL|OMIM:304050 MAP|Xp22 PHP|Aicardi syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118986 } # EOR GENR { RETE|ID 1 HUgn0000193 CHR 1 X DID 1 LocusLink:193 MAP 1 Xq21 NAM 1 Allan-Herndon-Dudley syndrome ORG 1 Homo sapiens SYM 1 AHDS ID|HUgn0000193 DID|LocusLink:193 ORG|Homo sapiens SYM|AHDS NAM|Allan-Herndon-Dudley syndrome CHR|X PRD|Allan-Herndon-Dudley mental retardation syndrome DBL|OMIM:309600 MAP|Xq21 PHP|Allan-Herndon syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125899 } # EOR GENR { RETE|ID 1 HUgn0000195 CHR 1 11 DID 1 LocusLink:195 MAP 1 11q12-q13 NAM 1 AHNAK nucleoprotein (desmoyokin) ORG 1 Homo sapiens SYM 1 AHNAK ID|HUgn0000195 DID|LocusLink:195 ORG|Homo sapiens DBA|NA:AK128868 |NA:M80899 |NA:X74818 |NA:none SYM|AHNAK NAM|AHNAK nucleoprotein (desmoyokin) SYN|AHNAKRS CHR|11 PRD|desmoyokin |AHNAK-related URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=378738 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386063 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AK128868 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AK128868 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.figgrp.1395 DBL|UNIGENE:Hs.378738 |OMIM:103390 |SNP:195 MAP|11q12-q13 FNC|neurogenesis ; GO:0007399 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0000196 CHR 1 7 DID 1 LocusLink:196 MAP 1 7p15 NAM 1 aryl hydrocarbon receptor ORG 1 Homo sapiens SYM 1 AHR ID|HUgn0000196 DID|LocusLink:196 ORG|Homo sapiens RSQ|REFSEQ:NM_001621 RPA|REFPROT:NP_001612 DBA|XM:NM_001621 |XM:NM_001621 |NA:D31708 |NA:D38044 |NA:U28063 |NA:U28064 |NA:U28066 |NA:BC021696 |NA:D16354 |NA:L19872 |NA:none PAC|XP:NP_001612 |XP:NP_001612 SYM|AHR NAM|aryl hydrocarbon receptor FNC|aryl hydrocarbon receptor |cell cycle ; GO:0007049 |response to stress ; GO:0006950 |regulation of transcription, DNA-dependent ; GO:0006355 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 |transcription from Pol II promoter ; GO:0006366 |response to xenobiotic stimulus ; GO:0009410 REAB|Aryl hydrocarbon receptor is a ligand-activated transcription factor involved in |the regulation of biological responses to planar aromatic hydrocarbons. AHR has |been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. | AHR ligands included a variety of aromatic hydrocarbons. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170087 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=196[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138471 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001621 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001621 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170087 DBL|UNIGENE:Hs.170087 |OMIM:600253 |SNP:196 MAP|7p15 ENZ|ligand-dependent nuclear receptor activity ; GO:0004879 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1152; expect == 0.0; MEOW:ref|XP_346770.1| (70%) |species == Mouse; gene == Ahr; score == 1099; expect == 0.0; MEOW:MGgn0000262 (71%) |species == Zfish; gene == ahr1; score == 564; expect == 8e-161; MEOW:ZFgn0002566 (47%) |species == Zfish; gene == ahr2; score == 545; expect == 2e-156; MEOW:ZFgn0000280 (51%) |species == Fruitfly; gene == ss; score == 330; expect == 1.7e-90; MEOW:FBgn0003513 (45%) |species == Mosquito; gene == LOC14282; score == 327; expect == 1.1e-89; MEOW:AGgn0014282 (48%) |species == Human; gene == AHRR; score == 275; expect == 1.0e-73; MEOW:HUgn0057491 (45%) |species == Worm; gene == ahr-1; score == 248; expect == 9.1e-66; MEOW:CEgn0000052 (34%) } # EOR GENR { RETE|ID 1 HUgn0000197 CHR 1 3 DID 1 LocusLink:197 MAP 1 3q27 NAM 1 alpha-2-HS-glycoprotein ORG 1 Homo sapiens SYM 1 AHSG ID|HUgn0000197 DID|LocusLink:197 ORG|Homo sapiens RSQ|REFSEQ:NM_001622 RPA|REFPROT:NP_001613 DBA|XM:NM_001622 |NA:D67013 |NA:BC048198 |NA:BC052590 |NA:D67012 |NA:M16961 |NA:none PAC|XP:NP_001613 SYM|AHSG NAM|alpha-2-HS-glycoprotein SYN|AHS |HSGA |FETUA FNC|alpha-2-HS-glycoprotein |ossification ; GO:0001503 |regulation of bone mineralization ; GO:0030500 REAB|Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized |by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are |both cleaved from a proprotein encoded from a single mRNA. It is involved in several |functions, such as endocytosis, brain development and the formation of bone tissue. |The protein is commonly present in the cortical plate of the immature cerebral cortex |and bone marrow hemopoietic matrix, and it has therefore been postulated that it |participates in the development of the tissues. However, its exact significance |is still obscure. CHR|3 PRD|Alpha-2HS-glycoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324746 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=197[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118985 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001622 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001622 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324746 DBL|UNIGENE:Hs.324746 |OMIM:138680 |SNP:197 MAP|3q27 ENZ|cysteine protease inhibitor activity ; GO:0004869 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == chimp; score == 590; expect == 1e-170; MEOW:sp|Q9N2D0|A2HS_PANTR (98%) |species == Mouse; gene == Ahsg; score == 414; expect == 4e-116; MEOW:MGgn0000265 (58%) |species == rat; score == 372; expect == 2e-103; MEOW:ref|NP_037030.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0000198 CHR 1 X DID 1 LocusLink:198 MAP 1 Xp21-q21 NAM 1 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) ORG 1 Homo sapiens SYM 1 AIED ID|HUgn0000198 DID|LocusLink:198 ORG|Homo sapiens SYM|AIED NAM|Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) SYN|OA2 CHR|X PRD|Aland island eye disease (ocular albinism, Forsius-Eriksson type) DBL|OMIM:300600 MAP|Xp21-q21 PHP|Ocular albinism, Forsius-Eriksson type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119663 } # EOR GENR { RETE|ID 1 HUgn0000199 CHR 1 6 DID 1 LocusLink:199 MAP 1 6p21.3 NAM 1 allograft inflammatory factor 1 ORG 1 Homo sapiens SYM 1 AIF1 ID|HUgn0000199 DID|LocusLink:199 ORG|Homo sapiens RSQ|REFSEQ:NM_001623 |REFSEQ:NM_004847 |REFSEQ:NM_032955 RPA|REFPROT:NP_001614 |REFPROT:NP_004838 |REFPROT:NP_116573 DBA|XM:NM_001623 |XM:NM_004847 |XM:NM_032955 |NA:AF129756 |NA:Y14768 |NA:BC009474 |NA:D86438 |NA:U19713 |NA:U49392 |NA:U95213 |NA:none PAC|XP:NP_001614 |XP:NP_004838 |XP:NP_116573 SYM|AIF1 NAM|allograft inflammatory factor 1 SYN|IBA1 |AIF-1 |IRT-1 FNC|allograft inflammatory factor 1 isoform 1 |allograft inflammatory factor 1 isoform 2 |allograft inflammatory factor 1 isoform 3 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |response to stress ; GO:0006950 |inflammatory response ; GO:0006954 REAB|This gene is induced by cytokines and interferon. Its protein product is thought |to be involved in negative regulation of growth of vascular smooth muscle cells, |which contributes to the anti-inflammatory response to vessel wall trauma. The gene |expresses three transcripts. CHR|6 PRD|Em:AF129756.17 |interferon gamma responsive transcript |ionized calcium-binding adapter molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76364 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=199[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278877 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004847 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004847 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76364 DBL|UNIGENE:Hs.76364 |OMIM:601833 |SNP:199 MAP|6p21.3 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Aif1; score == 260; expect == 1.1e-70; MEOW:MGgn0000269 (89%) |species == rat; score == 260; expect == 2.1e-70; MEOW:ref|NP_058892.1| (89%) |species == Human; gene == IBA2; score == 194; expect == 1.1e-50; MEOW:HUgn0083543 (66%) } # EOR GENR { RETE|ID 1 HUgn0000200 CHR 1 4 DID 1 LocusLink:200 MAP 1 4q11-q21 NAM 1 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) ORG 1 Homo sapiens SYM 1 AIH2 ID|HUgn0000200 DID|LocusLink:200 ORG|Homo sapiens SYM|AIH2 NAM|amelogenesis imperfecta 2, hypocalcification (autosomal dominant) SYN|ADAI CHR|4 PRD|amelogenesis imperfecta 2, hypoplastic, local (autosomal dominant) DBL|OMIM:104500 MAP|4q11-q21 PHP|Amelogenesis imperfecta-2, hypoplastic local type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118751 } # EOR GENR { RETE|ID 1 HUgn0000201 CHR 1 X DID 1 LocusLink:201 MAP 1 Xq22-q28 NAM 1 amelogenesis imperfecta 3, hypomaturation or hypoplastic type ORG 1 Homo sapiens SYM 1 AIH3 ID|HUgn0000201 DID|LocusLink:201 ORG|Homo sapiens SYM|AIH3 NAM|amelogenesis imperfecta 3, hypomaturation or hypoplastic type CHR|X DBL|OMIM:301201 MAP|Xq22-q28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131443 } # EOR GENR { RETE|ID 1 HUgn0000202 CHR 1 6 DID 1 LocusLink:202 MAP 1 6q21 NAM 1 absent in melanoma 1 ORG 1 Homo sapiens SYM 1 AIM1 ID|HUgn0000202 DID|LocusLink:202 ORG|Homo sapiens DBA|XM:XM_166300 |NA:U83116 |NA:U83115 |NA:none PAC|XP:XP_166300 SYM|AIM1 NAM|absent in melanoma 1 SYN|ST4 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422550 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=202[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6268479 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U83115 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U83115 DBL|UNIGENE:Hs.422550 |OMIM:601797 |SNP:202 MAP|6q21 ENZ|sugar binding ; GO:0005529 |molecular_function unknown ; GO:0005554 FNC|biological_process unknown ; GO:0000004 |heterophilic cell adhesion ; GO:0007157 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Aim1; score == 1416; expect == 0.0; MEOW:MGgn0000270 (87%) |species == rat; score == 842; expect == 0.0; MEOW:ref|XP_241718.2| (50%) |species == Human; gene == DKFZp667G2110; score == 354; expect == 7.4e-98; MEOW:HUgn0131544 (39%) } # EOR GENR { RETE|ID 1 HUgn0000203 CHR 1 9 DID 1 LocusLink:203 MAP 1 9q34.1 NAM 1 adenylate kinase 1 ORG 1 Homo sapiens SYM 1 AK1 ID|HUgn0000203 DID|LocusLink:203 ORG|Homo sapiens RSQ|REFSEQ:NM_000476 RPA|REFPROT:NP_000467 DBA|XM:NM_000476 |NA:J04809 |NA:BC001116 |NA:BC036803 |NA:none PAC|XP:NP_000467 SYM|AK1 NAM|adenylate kinase 1 FNC|adenylate kinase 1 |ATP metabolism ; GO:0046034 REAB|Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition |within a cell by catalyzing the reversible transfer of phosphate group among adinine |nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, |adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal |muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria |of other tissues including liver and heart. AK1 was identified because of its association |with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation |in the AK1 gene was found to reduce the catalytic activity of the enzyme. Alternative |splicing of the AK1 gene yields two transcripts of 0.9 kb and 2.5 kb. The two transcripts |differ in the 3-prime non-coding region and use two distinct polyadenylation signals. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76240 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=203[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119664 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000476 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000476 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.76240 |OMIM:103000 |SNP:203 ENZ|EC:2.7.4.3 |adenylate kinase activity ; GO:0004017 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|9q34.1 PHP|Hemolytic anemia due to adenylate kinase deficiency CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Ak1; score == 344; expect == 1.3e-95; MEOW:MGgn0000276 (88%) |species == Human; gene == AK5; score == 236; expect == 5.7e-63; MEOW:HUgn0026289 (58%) |species == Worm; gene == F38B2.4; score == 224; expect == 1.2e-59; MEOW:CEgn0010295 (59%) |species == rat; score == 197; expect == 1.2e-50; MEOW:ref|XP_345320.1| (57%) |species == rat; score == 184; expect == 2.6e-47; MEOW:ref|XP_236788.2| (43%) |species == Mosquito; gene == LOC15199; score == 179; expect == 1.2e-45; MEOW:AGgn0015199 (49%) |species == Fruitfly; gene == Adk1; score == 179; expect == 6.5e-46; MEOW:FBgn0022709 (46%) |species == Weed; gene == At5g26667; score == 163; expect == 4.7e-41; MEOW:ATgn0030369 (46%) |species == Yeast; gene == URA6; score == 163; expect == 1.4e-41; MEOW:SGgn0001507 (45%) |species == rice; score == 158; expect == 2.8e-39; MEOW:gnl|TIGR|8355.m04115 (43%) |species == Weed; gene == At3g60180; score == 154; expect == 2.9e-38; MEOW:ATgn0013165 (43%) |species == rice; score == 152; expect == 3.0e-37; MEOW:gnl|TIGR|8354.m00925 (45%) |species == Mosquito; gene == LOC14384; score == 151; expect == 1.8e-37; MEOW:AGgn0014384 (41%) |species == rice; score == 149; expect == 1.6e-36; MEOW:gnl|TIGR|8352.m00042 (44%) |species == Weed; gene == At4g25280; score == 146; expect == 1.2e-35; MEOW:ATgn0019765 (41%) |species == rice; score == 144; expect == 4.8e-35; MEOW:gnl|TIGR|8351.m05162 (42%) |species == rice; score == 137; expect == 1.0e-32; MEOW:gnl|TIGR|8356.m00076 (35%) } # EOR GENR { RETE|ID 1 HUgn0000204 CHR 1 1 DID 1 LocusLink:204 MAP 1 1p34 NAM 1 adenylate kinase 2 ORG 1 Homo sapiens SYM 1 AK2 ID|HUgn0000204 DID|LocusLink:204 ORG|Homo sapiens RSQ|REFSEQ:NM_001625 |REFSEQ:NM_013411 |REFSEQ:NM_172199 RPA|REFPROT:NP_001616 |REFPROT:NP_037543 |REFPROT:NP_751949 DBA|XM:NM_001625 |XM:NM_013411 |XM:NM_172199 |NA:AB005621 |NA:AB005622 |NA:AY080899 |NA:AY080900 |NA:BC009405 |NA:BC026705 |NA:U39945 |NA:U54645 |NA:U84371 |NA:none |NA:AK023758 PAC|XP:NP_001616 |XP:NP_037543 |XP:NP_751949 SYM|AK2 NAM|adenylate kinase 2 SYN|ADK2 FNC|adenylate kinase 2 isoform a |adenylate kinase 2 isoform b |adenylate kinase 2 isoform c REAB|Adenylate kinases are involved in regulating the adenine nucleotide composition within |a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. |Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in |vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific |and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane |space and may play a role in apoptosis. Transcript variants encoding distinct isoforms |have been identified for this gene. CHR|1 PRD|ATP-AMP transphosphorylase |adenylate kinase, mitochondrial |adenylate kinase isoenzyme 2, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=294008 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=204[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118987 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013411 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013411 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=294008 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=204 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24656 DBL|UNIGENE:Hs.294008 |OMIM:103020 |SNP:204 ENZ|EC:2.7.4.3 |adenylate kinase activity ; GO:0004017 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|1p34 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 447; expect == 3e-126; MEOW:ref|NP_112248.1| (92%) |species == Mouse; gene == Ak2; score == 424; expect == 1e-119; MEOW:MGgn0000277 (92%) |species == Fruitfly; gene == Adk2; score == 308; expect == 1.7e-84; MEOW:FBgn0022708 (65%) |species == Mosquito; gene == LOC21517; score == 299; expect == 1.0e-81; MEOW:AGgn0021517 (67%) |species == Worm; gene == C29E4.8; score == 294; expect == 2.3e-80; MEOW:CEgn0005588 (62%) |species == Yeast; gene == ADK1; score == 261; expect == 2.1e-70; MEOW:SGgn0002634 (58%) |species == rice; score == 244; expect == 3.0e-65; MEOW:gnl|TIGR|8358.m01770 (53%) |species == Weed; gene == At5g63400; score == 243; expect == 5.1e-65; MEOW:ATgn0023251 (53%) |species == rice; score == 242; expect == 1.5e-64; MEOW:gnl|TIGR|8359.m01249 (53%) |species == Weed; gene == At5g50370; score == 236; expect == 1.1e-62; MEOW:ATgn0023692 (54%) |species == ecoli; score == 204; expect == 3.7e-53; MEOW:ref|NP_415007.1| (53%) |species == Human; gene == AK3L1; score == 174; expect == 3.5e-44; MEOW:HUgn0050808 (44%) |species == Human; gene == AK3; score == 156; expect == 1.1e-38; MEOW:HUgn0000205 (41%) } # EOR GENR { RETE|ID 1 HUgn0000205 CHR 1 1 DID 1 LocusLink:205 MAP 1 9pter-p13 NAM 1 adenylate kinase 3 ORG 1 Homo sapiens SYM 1 AK3 ID|HUgn0000205 DID|LocusLink:205 ORG|Homo sapiens RSQ|REFSEQ:NM_013410 RPA|REFPROT:NP_037542 DBA|XM:NM_013410 |NA:AK025926 |NA:BC016180 |NA:BC040224 |NA:X60673 |NA:none PAC|XP:NP_037542 SYM|AK3 NAM|adenylate kinase 3 FNC|adenylate kinase 3 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 REAB|Adenylate kinases regulate the adenine and guanine nucleotide compositions within |a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. |Three isozymes of adenylate kinase have been identified in vertebrates, adenylate |isozyme 1 (AK1), 2 (AK2) and 3 (AK3). Expression of these isozymes is tissue-specific |and developmentally regulated. AK3 utilizes GTP as a substrate compared to AK1 and |AK2 which use ATP. Sequence alignment suggests that the gene defined by NM_013410.1 |is located on chromosome 1. CHR|1 PRD|GTP:AMP phosphotransferase |Adenylate kinase-3, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10862 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=205[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118988 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013410 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013410 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=10862 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=205 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.10862 |OMIM:103030 |SNP:205 ENZ|EC:2.7.4.10 |adenylate kinase activity ; GO:0004017 |GTP binding ; GO:0005525 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|9pter-p13 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Ak4; score == 414; expect == 2e-116; MEOW:MGgn0000279 (90%) |species == rat; score == 413; expect == 4e-116; MEOW:ref|NP_058831.1| (89%) |species == Human; gene == LOC283341; score == 339; expect == 1.0e-93; MEOW:HUgn0283341 (94%) |species == Human; gene == AK3L1; score == 279; expect == 7.4e-76; MEOW:HUgn0050808 (59%) |species == Fruitfly; gene == Adk3; score == 219; expect == 1.1e-57; MEOW:FBgn0042094 (48%) |species == Mosquito; gene == LOC10251; score == 215; expect == 1.6e-56; MEOW:AGgn0010251 (50%) |species == Yeast; gene == ADK2; score == 168; expect == 7.1e-43; MEOW:SGgn0000972 (43%) |species == Weed; gene == At5g50370; score == 150; expect == 6.8e-37; MEOW:ATgn0023692 (41%) |species == Weed; gene == At5g63400; score == 149; expect == 1.0e-36; MEOW:ATgn0023251 (39%) |species == Worm; gene == C29E4.8; score == 149; expect == 1.4e-36; MEOW:CEgn0005588 (41%) |species == rice; score == 148; expect == 2.3e-36; MEOW:gnl|TIGR|8358.m01770 (40%) |species == ecoli; score == 147; expect == 4.1e-36; MEOW:ref|NP_415007.1| (40%) |species == rice; score == 145; expect == 1.9e-35; MEOW:gnl|TIGR|8359.m01249 (39%) |species == Yeast; gene == ADK1; score == 143; expect == 1.9e-35; MEOW:SGgn0002634 (36%) |species == Worm; gene == ZK673.2; score == 141; expect == 1.7e-34; MEOW:CEgn0021119 (31%) |species == Weed; gene == At5g35170; score == 131; expect == 2.5e-31; MEOW:ATgn0021586 (38%) } # EOR GENR { RETE|ID 1 HUgn0000206 CHR 1 17 DID 1 LocusLink:206 MAP 1 17q11.2 NAM 1 adenylate kinase 3 pseudogene 1 ORG 1 Homo sapiens SYM 1 AK3P1 ID|HUgn0000206 DID|LocusLink:206 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X60674 SYM|AK3P1 NAM|adenylate kinase 3 pseudogene 1 CHR|17 MAP|17q11.2 DBL|SNP:206 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132659 } # EOR GENR { RETE|ID 1 HUgn0000207 CHR 1 14 DID 1 LocusLink:207 MAP 1 14q32.32 NAM 1 v-akt murine thymoma viral oncogene homolog 1 ORG 1 Homo sapiens SYM 1 AKT1 ID|HUgn0000207 DID|LocusLink:207 ORG|Homo sapiens RSQ|REFSEQ:NM_005163 RPA|REFPROT:NP_005154 DBA|XM:NM_005163 |NA:AK122894 |NA:BC000479 |NA:BC001737 |NA:BX648205 |NA:M63167 |NA:X61037 |NA:none PAC|XP:NP_005154 SYM|AKT1 NAM|v-akt murine thymoma viral oncogene homolog 1 SYN|PKB |RAC |PRKBA |RAC-ALPHA FNC|serine/threonine protein kinase |response to heat ; GO:0009408 |nitric oxide biosynthesis ; GO:0006809 |anti-apoptosis ; GO:0006916 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive |in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 |are activated by platelet-derived growth factor. The activation is rapid and specific, |and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was |shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing |nervous system AKT is a critical mediator of growth factor-induced neuronal survival. |Survival factors can suppress apoptosis in a transcription-independent manner by |activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates |components of the apoptotic machinery. CHR|14 PRD|Murine thymoma viral (v-akt) oncogene homolog-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=368861 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=207[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118989 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005163 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005163 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=368861 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.368861 |OMIM:164730 |SNP:207 ENZ|EC:2.7.1.37 |receptor signaling protein serine/threonine kinase activity ; GO:0004702 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|14q32.32 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Akt1; score == 968; expect == 0.0; MEOW:MGgn0000291 (98%) |species == rat; score == 968; expect == 0.0; MEOW:ref|NP_150233.1| (97%) |species == Mouse; gene == Akt2; score == 823; expect == 0.0; MEOW:MGgn0000292 (81%) |species == Human; gene == AKT2; score == 822; expect == 0.0; MEOW:HUgn0000208 (81%) |species == rat; score == 817; expect == 0.0; MEOW:ref|NP_058789.1| (81%) |species == Human; gene == AKT3; score == 810; expect == 0.0; MEOW:HUgn0010000 (82%) |species == Mouse; gene == Akt3; score == 807; expect == 0.0; MEOW:MGgn0000294 (82%) |species == Mosquito; gene == LOC19348; score == 621; expect == 2e-178; MEOW:AGgn0019348 (62%) |species == Fruitfly; gene == Akt1; score == 606; expect == 6e-174; MEOW:FBgn0010379 (61%) |species == Worm; gene == akt-1; score == 561; expect == 2e-160; MEOW:CEgn0000055 (55%) |species == Zfish; gene == prkci; score == 313; expect == 1.7e-85; MEOW:ZFgn0002337 (44%) |species == Yeast; gene == YPK1; score == 301; expect == 1.5e-82; MEOW:SGgn0001609 (47%) |species == Yeast; gene == SCH9; score == 298; expect == 6.4e-81; MEOW:SGgn0001248 (50%) |species == Yeast; gene == YPK2; score == 294; expect == 1.8e-80; MEOW:SGgn0004710 (49%) |species == Yeast; gene == PKC1; score == 290; expect == 4.5e-79; MEOW:SGgn0000201 (42%) |species == chimp; score == 283; expect == 2.1e-78; MEOW:sp|BAC81132|BAC81132 (42%) |species == Weed; gene == At3g08730; score == 282; expect == 2.6e-76; MEOW:ATgn0012560 (40%) |species == Weed; gene == At3g08720; score == 273; expect == 1.6e-73; MEOW:ATgn0012546 (38%) |species == rice; score == 261; expect == 1.3e-69; MEOW:gnl|TIGR|8360.m02002 (40%) |species == Yeast; gene == TPK1; score == 255; expect == 2.6e-68; MEOW:SGgn0003700 (41%) |species == Yeast; gene == TPK2; score == 255; expect == 9.4e-69; MEOW:SGgn0006124 (42%) |species == rice; score == 255; expect == 1.2e-67; MEOW:gnl|TIGR|8355.m04622 (38%) |species == Yeast; gene == TPK3; score == 253; expect == 4.7e-68; MEOW:SGgn0001649 (41%) |species == Weed; gene == At5g62310; score == 229; expect == 3.4e-60; MEOW:ATgn0022335 (36%) |species == Weed; gene == At1g45160; score == 226; expect == 1.7e-59; MEOW:ATgn0005042 (36%) } # EOR GENR { RETE|ID 1 HUgn0000208 CHR 1 19 DID 1 LocusLink:208 MAP 1 19q13.1-q13.2 NAM 1 v-akt murine thymoma viral oncogene homolog 2 ORG 1 Homo sapiens SYM 1 AKT2 ID|HUgn0000208 DID|LocusLink:208 ORG|Homo sapiens RSQ|REFSEQ:NM_001626 RPA|REFPROT:NP_001617 DBA|XM:NM_001626 |NA:AK054771 |NA:AK055779 |NA:BC022779 |NA:M77198 |NA:M95936 |NA:none PAC|XP:NP_001617 SYM|AKT2 NAM|v-akt murine thymoma viral oncogene homolog 2 SYN|PRKBB |PKBBETA |RAC-BETA FNC|v-akt murine thymoma viral oncogene homolog 2 |protein amino acid phosphorylation ; GO:0006468 REAB|AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine |kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was |shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and |2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant |phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein |kinase capable of phophorylating several known proteins. CHR|19 PRD|rac protein kinase beta |Murine thymoma viral (v-akt) homolog-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326445 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=208[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001626 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001626 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=326445 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.326445 |OMIM:164731 |SNP:208 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|19q13.1-q13.2 PHP|Ovarian carcinoma HG|species == Mouse; gene == Akt2; score == 966; expect == 0.0; MEOW:MGgn0000292 (98%) |species == rat; score == 961; expect == 0.0; MEOW:ref|NP_058789.1| (97%) |species == Mouse; gene == Akt1; score == 825; expect == 0.0; MEOW:MGgn0000291 (81%) |species == rat; score == 824; expect == 0.0; MEOW:ref|NP_150233.1| (81%) |species == Human; gene == AKT1; score == 822; expect == 0.0; MEOW:HUgn0000207 (81%) |species == Human; gene == AKT3; score == 773; expect == 0.0; MEOW:HUgn0010000 (77%) |species == Mouse; gene == Akt3; score == 773; expect == 0.0; MEOW:MGgn0000294 (77%) |species == Mosquito; gene == LOC19348; score == 634; expect == 0.0; MEOW:AGgn0019348 (63%) |species == Fruitfly; gene == Akt1; score == 617; expect == 2e-177; MEOW:FBgn0010379 (61%) |species == Worm; gene == akt-1; score == 557; expect == 5e-159; MEOW:CEgn0000055 (53%) |species == Zfish; gene == prkci; score == 322; expect == 2.0e-89; MEOW:ZFgn0002337 (48%) |species == Yeast; gene == YPK1; score == 308; expect == 5.0e-84; MEOW:SGgn0001609 (47%) |species == Yeast; gene == YPK2; score == 305; expect == 1.4e-83; MEOW:SGgn0004710 (46%) |species == Yeast; gene == PKC1; score == 304; expect == 1.8e-83; MEOW:SGgn0000201 (42%) |species == Yeast; gene == SCH9; score == 297; expect == 2.4e-80; MEOW:SGgn0001248 (49%) |species == chimp; score == 290; expect == 1.7e-80; MEOW:sp|BAC81132|BAC81132 (42%) |species == Weed; gene == At3g08730; score == 278; expect == 6.3e-75; MEOW:ATgn0012560 (40%) |species == Weed; gene == At3g08720; score == 275; expect == 3.1e-74; MEOW:ATgn0012546 (40%) |species == rice; score == 273; expect == 2.6e-73; MEOW:gnl|TIGR|8360.m02002 (41%) |species == rice; score == 266; expect == 5.4e-71; MEOW:gnl|TIGR|8355.m04622 (36%) |species == Yeast; gene == TPK3; score == 256; expect == 4.2e-69; MEOW:SGgn0001649 (41%) |species == Yeast; gene == TPK1; score == 256; expect == 1.2e-68; MEOW:SGgn0003700 (40%) |species == Yeast; gene == TPK2; score == 255; expect == 9.4e-69; MEOW:SGgn0006124 (40%) |species == Weed; gene == At1g48490; score == 228; expect == 1.2e-59; MEOW:ATgn0006891 (35%) |species == Weed; gene == At5g62310; score == 226; expect == 2.9e-59; MEOW:ATgn0022335 (35%) |species == Weed; gene == At1g45160; score == 223; expect == 1.4e-58; MEOW:ATgn0005042 (35%) |species == rice; score == 220; expect == 3.4e-57; MEOW:gnl|TIGR|8360.m04519 (36%) } # EOR GENR { RETE|ID 1 HUgn0000210 CHR 1 9 DID 1 LocusLink:210 MAP 1 9q34 NAM 1 aminolevulinate, delta-, dehydratase ORG 1 Homo sapiens SYM 1 ALAD ID|HUgn0000210 DID|LocusLink:210 ORG|Homo sapiens RSQ|REFSEQ:NM_000031 RPA|REFPROT:NP_000022 DBA|XM:NM_000031 |NA:AY319481 |NA:X64467 |NA:AU279870 |NA:BC000977 |NA:BX494400 |NA:M13928 |NA:S99468 |NA:S99471 |NA:none PAC|XP:NP_000022 SYM|ALAD NAM|aminolevulinate, delta-, dehydratase SYN|ALADH |MGC5057 FNC|delta-aminolevulinic acid dehydratase |heme biosynthesis ; GO:0006783 REAB|The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation |of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of |heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the |porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. |ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural |gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. CHR|9 PRD|porphobilinogen synthase |aminolevulinate dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=210[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119665 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000031 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000031 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1227 |http://www.geneclinics.org/query?mim=125270 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.1227 |OMIM:125270 |SNP:210 ENZ|EC:4.2.1.24 |porphobilinogen synthase activity ; GO:0004655 |lyase activity ; GO:0016829 MAP|9q34 PHP|Lead poisoning, susceptibility to |Porphyria, acute hepatic HG|species == Mouse; gene == Alad; score == 605; expect == 9e-174; MEOW:MGgn0007218 (88%) |species == rat; score == 599; expect == 6e-172; MEOW:ref|NP_037031.1| (87%) |species == Mosquito; gene == LOC12449; score == 406; expect == 4e-114; MEOW:AGgn0012449 (60%) |species == Fruitfly; gene == CG10335; score == 392; expect == 1e-109; MEOW:FBgn0036271 (61%) |species == Yeast; gene == HEM2; score == 345; expect == 4.3e-96; MEOW:SGgn0003008 (53%) |species == Weed; gene == At1g69740; score == 234; expect == 6.4e-62; MEOW:ATgn0001484 (42%) |species == ecoli; score == 233; expect == 1.0e-62; MEOW:ref|NP_414903.1| (42%) |species == rice; score == 230; expect == 2.0e-60; MEOW:gnl|TIGR|8354.m04598 (41%) } # EOR GENR { RETE|ID 1 HUgn0000211 CHR 1 3 DID 1 LocusLink:211 MAP 1 3p21.1 NAM 1 aminolevulinate, delta-, synthase 1 ORG 1 Homo sapiens SYM 1 ALAS1 ID|HUgn0000211 DID|LocusLink:211 ORG|Homo sapiens RSQ|REFSEQ:NM_000688 RPA|REFPROT:NP_000679 DBA|XM:NM_000688 |NA:AB063322 |NA:BC011798 |NA:X56351 |NA:Y00451 |NA:none PAC|XP:NP_000679 SYM|ALAS1 NAM|aminolevulinate, delta-, synthase 1 SYN|ALAS |ALASH FNC|aminolevulinate, delta-, synthase 1 |heme biosynthesis ; GO:0006783 |biosynthesis ; GO:0009058 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511918 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=211[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120543 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000688 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000688 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511918 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=211 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.511918 |OMIM:125290 |SNP:211 ENZ|EC:2.3.1.37 |acyltransferase activity ; GO:0008415 |transaminase activity ; GO:0008483 |5-aminolevulinate synthase activity ; GO:0003870 |transferase activity ; GO:0016740 MAP|3p21.1 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Alas1; score == 1144; expect == 0.0; MEOW:MGgn0000296 (91%) |species == Zfish; gene == alas2; score == 716; expect == 0.0; MEOW:ZFgn0001978 (61%) |species == Human; gene == ALAS2; score == 711; expect == 0.0; MEOW:HUgn0000212 (63%) |species == Mosquito; gene == LOC14729; score == 543; expect == 9e-155; MEOW:AGgn0014729 (65%) |species == Fruitfly; gene == Alas; score == 542; expect == 2e-154; MEOW:FBgn0020764 (64%) |species == Yeast; gene == HEM1; score == 366; expect == 2e-101; MEOW:SGgn0002640 (45%) |species == rat; score == 209; expect == 3.0e-54; MEOW:ref|XP_345857.1| (33%) |species == ecoli; score == 198; expect == 5.0e-51; MEOW:ref|NP_418074.1| (34%) |species == rat; score == 171; expect == 2.9e-43; MEOW:ref|XP_346293.1| (65%) |species == Worm; gene == T22G5.5; score == 158; expect == 7.8e-39; MEOW:CEgn0016685 (29%) |species == rice; score == 153; expect == 1.9e-37; MEOW:gnl|TIGR|8350.m06593 (29%) |species == rice; score == 148; expect == 7.9e-36; MEOW:gnl|TIGR|8350.m06594 (31%) |species == rice; score == 141; expect == 7.3e-34; MEOW:gnl|TIGR|8350.m06592 (28%) |species == rice; score == 139; expect == 3.8e-33; MEOW:gnl|TIGR|8358.m02398 (32%) |species == Weed; gene == At5g23670; score == 135; expect == 5.2e-32; MEOW:ATgn0022506 (28%) |species == Weed; gene == At3g48780; score == 133; expect == 2.6e-31; MEOW:ATgn0014905 (27%) } # EOR GENR { RETE|ID 1 HUgn0000212 CHR 1 X DID 1 LocusLink:212 MAP 1 Xp11.21 NAM 1 aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ORG 1 Homo sapiens SYM 1 ALAS2 ID|HUgn0000212 DID|LocusLink:212 ORG|Homo sapiens RSQ|REFSEQ:NM_000032 RPA|REFPROT:NP_000023 DBA|XM:NM_000032 |NA:BC030230 |NA:X56352 |NA:X60364 |NA:none PAC|XP:NP_000023 SYM|ALAS2 NAM|aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) SYN|ASB |ANH1 FNC|aminolevulinate, delta-, synthase 2 |heme biosynthesis ; GO:0006783 REAB|The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme. | The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway. | A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 |and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive |sideroblastic anemia (Hypochromic Anemia). CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440455 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=212[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119666 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000032 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000032 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440455 |http://www.geneclinics.org/query?mim=301300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.440455 |OMIM:301300 |SNP:212 |UWCM:119666.html |IXDB:537101 ENZ|EC:2.3.1.37 MAP|Xp11.21 PHP|Anemia, sideroblastic/hypochromic HG|species == Mouse; gene == Alas2; score == 1076; expect == 0.0; MEOW:MGgn0000297 (89%) |species == Zfish; gene == alas2; score == 743; expect == 0.0; MEOW:ZFgn0001978 (64%) |species == Human; gene == ALAS1; score == 711; expect == 0.0; MEOW:HUgn0000211 (63%) |species == Fruitfly; gene == Alas; score == 543; expect == 8e-155; MEOW:FBgn0020764 (56%) |species == Mosquito; gene == LOC14729; score == 539; expect == 1e-153; MEOW:AGgn0014729 (54%) |species == Yeast; gene == HEM1; score == 375; expect == 1e-104; MEOW:SGgn0002640 (43%) |species == rat; score == 251; expect == 1.1e-66; MEOW:ref|XP_346293.1| (91%) |species == rat; score == 227; expect == 1.1e-59; MEOW:ref|XP_345857.1| (36%) |species == ecoli; score == 213; expect == 2.2e-56; MEOW:ref|NP_418074.1| (35%) |species == ecoli; score == 171; expect == 1.6e-43; MEOW:ref|NP_415297.1| (33%) |species == rice; score == 156; expect == 5.9e-38; MEOW:gnl|TIGR|8350.m06594 (31%) |species == rice; score == 154; expect == 1.1e-37; MEOW:gnl|TIGR|8350.m06593 (31%) |species == Worm; gene == T22G5.5; score == 151; expect == 5.9e-37; MEOW:CEgn0016685 (27%) |species == rice; score == 150; expect == 1.6e-36; MEOW:gnl|TIGR|8350.m06592 (31%) |species == Weed; gene == At5g04620; score == 147; expect == 1.6e-35; MEOW:ATgn0024746 (31%) |species == Weed; gene == At3g48780; score == 145; expect == 5.0e-35; MEOW:ATgn0014905 (29%) |species == rice; score == 145; expect == 1.4e-34; MEOW:gnl|TIGR|8358.m02398 (32%) |species == Weed; gene == At5g23670; score == 144; expect == 1.4e-34; MEOW:ATgn0022506 (29%) |species == rice; score == 137; expect == 1.0e-32; MEOW:gnl|TIGR|8362.m03353 (30%) |species == Weed; gene == At3g48790; score == 134; expect == 1.9e-31; MEOW:ATgn0014906 (30%) } # EOR GENR { RETE|ID 1 HUgn0000213 CHR 1 4 DID 1 LocusLink:213 MAP 1 4q11-q13 NAM 1 albumin ORG 1 Homo sapiens SYM 1 ALB ID|HUgn0000213 DID|LocusLink:213 ORG|Homo sapiens RSQ|REFSEQ:NM_000477 RPA|REFPROT:NP_000468 DBA|XM:NM_000477 |NA:M12523 |NA:M13075 |NA:S69192 |NA:S70799 |NA:AF190168 |NA:AF542069 |NA:BC014308 |NA:BC034023 |NA:BC034026 |NA:BC035969 |NA:BC036003 |NA:BC039235 |NA:BC041789 |NA:V00494 |NA:V00495 |NA:none |NA:A06977 PAC|XP:NP_000468 SYM|ALB NAM|albumin SYN|PRO0883 FNC|albumin precursor REAB|Albumin is a soluble, monomeric protein which comprises about one-half of the blood |serum protein. Albumin functions primarily as a carrier protein for steroids, fatty |acids, and thyroid hormones and plays a role in stabilizing extracellular fluid |volume. Mutations in this gene on chromosome 4 result in various anomalous proteins. |Albumin is a globular unglycosylated serum protein of molecular weight 65,000. The |human albumin gene is 16,961 nucleotides long from the putative 'cap' site to the |first poly(A) addition site. It is split into 15 exons which are symmetrically placed |within the 3 domains that are thought to have arisen by triplication of a single |primordial domain. Albumin is synthesized in the liver as preproalbumin which has |an N-terminal peptide that is removed before the nascent protein is released from |the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in |the Golgi vesicles to produce the secreted albumin. CHR|4 PRD|PRO0883 protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418167 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=213[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118990 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000477 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000477 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418167 |http://www.albumin.org DBL|UNIGENE:Hs.418167 |OMIM:103600 |SNP:213 MAP|4q11-q13 PHP|Analbuminemia |Dysalbuminemic hyperthyroxinemia |Dysalbuminemic hyperzincemia HG|species == rat; score == 976; expect == 0.0; MEOW:ref|NP_599153.1| (73%) |species == Mouse; gene == Alb1; score == 957; expect == 0.0; MEOW:MGgn0000298 (72%) |species == chimp; score == 502; expect == 3e-142; MEOW:sp|Q28789|FETA_PANTR (40%) |species == Human; gene == AFP; score == 500; expect == 8e-142; MEOW:HUgn0000174 (40%) |species == Human; gene == AFM; score == 412; expect == 2e-115; MEOW:HUgn0000173 (35%) } # EOR GENR { RETE|ID 1 HUgn0000214 CHR 1 3 DID 1 LocusLink:214 MAP 1 3q13.1 NAM 1 activated leukocyte cell adhesion molecule ORG 1 Homo sapiens SYM 1 ALCAM ID|HUgn0000214 DID|LocusLink:214 ORG|Homo sapiens RSQ|REFSEQ:NM_001627 RPA|REFPROT:NP_001618 DBA|XM:NM_001627 |NA:AK054632 |NA:AK127617 |NA:AL833702 |NA:L38608 |NA:Y10183 |NA:none PAC|XP:NP_001618 SYM|ALCAM NAM|activated leukocyte cell adhesion molecule SYN|MEMD |CD166 FNC|activated leukocyte cell adhesion molecule |cell adhesion ; GO:0007155 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|3 PRD|activated leucocyte cell adhesion molecule |activated leukocyte-cell adhesion molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10247 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=214[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5659998 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001627 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001627 DBL|UNIGENE:Hs.10247 |OMIM:601662 |SNP:214 |PROW:1844846226 MAP|3q13.1 ENZ|receptor binding ; GO:0005102 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1042; expect == 0.0; MEOW:ref|NP_113941.1| (92%) |species == Mouse; gene == Alcam; score == 1038; expect == 0.0; MEOW:MGgn0000299 (92%) |species == Zfish; gene == alcam; score == 343; expect == 7.8e-96; MEOW:ZFgn0000302 (37%) |species == Human; gene == MCAM; score == 157; expect == 1.2e-38; MEOW:HUgn0004162 (24%) |species == Human; gene == LU; score == 151; expect == 8.6e-37; MEOW:HUgn0004059 (29%) } # EOR GENR { RETE|ID 1 HUgn0000215 CHR 1 X DID 1 LocusLink:215 MAP 1 Xq28 NAM 1 ATP-binding cassette, sub-family D (ALD), member 1 ORG 1 Homo sapiens SYM 1 ABCD1 ID|HUgn0000215 DID|LocusLink:215 ORG|Homo sapiens RSQ|REFSEQ:NM_000033 RPA|REFPROT:NP_000024 DBA|XM:NM_000033 |NA:Z31348 |NA:BC015541 |NA:BC025358 |NA:Z21876 |NA:none PAC|XP:NP_000024 SYM|ABCD1 NAM|ATP-binding cassette, sub-family D (ALD), member 1 SYN|ALD |AMN |ALDP |ABC42 FNC|ATP-binding cassette, sub-family D (ALD), member 1 |peroxisome organization and biogenesis ; GO:0007031 |transport ; GO:0006810 |peroxisomal membrane transport ; GO:0015919 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which |is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. |All known peroxisomal ABC transporters are half transporters which require a partner |half transporter molecule to form a functional homodimeric or heterodimeric transporter. |This peroxisomal membrane protein is likely involved in the peroxisomal transport |or catabolism of very long chain fatty acids. Defects in this gene have been identified |as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited |demyelinating disorder of the nervous system. CHR|X PRD|adrenoleukodystrophy |adrenoleukodystrophy protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159546 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=215[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118991 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000033 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000033 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.152+OR+mono_001.section.204+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159546 |http://www.geneclinics.org/query?mim=300100 |http://www.geneclinics.org/query?mim=300371 |http://www.ncbi.nlm.nih.gov/disease/ALD.html |http://www.humanabc.org |http://www.x-ald.nl/ DBL|UNIGENE:Hs.159546 |OMIM:300371 |SNP:215 |UWCM:118991.html |IXDB:523501 MAP|Xq28 PHP|Adrenoleukodystrophy |Adrenomyeloneuropathy ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to peroxisomal membrane ; GO:0005779 |peroxisome ; GO:0005777 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Abcd1; score == 1251; expect == 0.0; MEOW:MGgn0000020 (92%) |species == rat; score == 1249; expect == 0.0; MEOW:ref|XP_343841.1| (91%) |species == Human; gene == ABCD2; score == 937; expect == 0.0; MEOW:HUgn0000225 (69%) |species == Worm; gene == T02D1.5; score == 732; expect == 0.0; MEOW:CEgn0015206 (56%) |species == Mosquito; gene == LOC19853; score == 679; expect == 0.0; MEOW:AGgn0019853 (50%) |species == Fruitfly; gene == CG2316; score == 571; expect == 3e-163; MEOW:FBgn0039890 (53%) |species == Yeast; gene == PXA1; score == 336; expect == 3.9e-92; MEOW:SGgn0006068 (31%) |species == Weed; gene == At4g39850; score == 320; expect == 1.9e-87; MEOW:ATgn0017729 (33%) |species == rice; score == 309; expect == 9.4e-84; MEOW:gnl|TIGR|8350.m06906 (31%) |species == Yeast; gene == PXA2; score == 302; expect == 1.4e-82; MEOW:SGgn0001671 (31%) |species == rice; score == 296; expect == 7.2e-80; MEOW:gnl|TIGR|8353.m00071 (31%) } # EOR GENR { RETE|ID 1 HUgn0000216 CHR 1 9 DID 1 LocusLink:216 MAP 1 9q21.13 NAM 1 aldehyde dehydrogenase 1 family, member A1 ORG 1 Homo sapiens SYM 1 ALDH1A1 ID|HUgn0000216 DID|LocusLink:216 ORG|Homo sapiens RSQ|REFSEQ:NM_000689 RPA|REFPROT:NP_000680 DBA|XM:NM_000689 |NA:M31994 |NA:AF003341 |NA:AK000118 |NA:AK026641 |NA:BC001505 |NA:BG773210 |NA:BT006921 |NA:K03000 |NA:M26761 |NA:none PAC|XP:NP_000680 SYM|ALDH1A1 NAM|aldehyde dehydrogenase 1 family, member A1 SYN|ALDC |ALDH1 |PUMB1 |ALDH11 |RALDH1 |ALDH-E1 |MGC2318 FNC|aldehyde dehydrogenase 1A1 |aldehyde metabolism ; GO:0006081 REAB|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde |dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. |Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished |by their electrophoretic mobilities, kinetic properties, and subcellular localizations. |Most Caucasians have two major isozymes, while approximately 50% of Orientals have |only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher |frequency of acute alcohol intoxication among Orientals than among Caucasians could |be related to the absence of the mitochondrial isozyme. This gene encodes a cytosolic |isoform, which has a high affinity for aldehydes. CHR|9 PRD|ALDH class 1 |retinal dehydrogenase 1 |acetaldehyde dehydrogenase 1 |aldehyde dehydrogenase 1, soluble |aldehyde dehydrogenase, liver cytosolic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76392 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=216[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119667 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000689 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000689 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76392 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.76392 |OMIM:100640 |SNP:216 ENZ|EC:1.2.1.3 |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |androgen binding ; GO:0005497 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|9q21.13 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Aldh1a1; score == 905; expect == 0.0; MEOW:MGgn0013500 (86%) |species == rat; score == 900; expect == 0.0; MEOW:ref|NP_071852.2| (86%) |species == Mouse; gene == Aldh1a7; score == 865; expect == 0.0; MEOW:MGgn0000314 (84%) |species == rat; score == 852; expect == 0.0; MEOW:ref|NP_058968.14| (82%) |species == Human; gene == ALDH1A2; score == 759; expect == 0.0; MEOW:HUgn0008854 (73%) |species == rat; score == 755; expect == 0.0; MEOW:ref|NP_446348.1| (73%) |species == Mouse; gene == Aldh1a2; score == 754; expect == 0.0; MEOW:MGgn0009723 (73%) |species == Zfish; gene == aldh1a2; score == 739; expect == 0.0; MEOW:ZFgn0002332 (72%) |species == Human; gene == ALDH1A3; score == 734; expect == 0.0; MEOW:HUgn0000220 (70%) |species == rat; score == 731; expect == 0.0; MEOW:ref|NP_695212.1| (70%) |species == Mouse; gene == Aldh1a3; score == 728; expect == 0.0; MEOW:MGgn0014335 (70%) |species == Human; gene == ALDH2; score == 702; expect == 0.0; MEOW:HUgn0000217 (68%) |species == Human; gene == ALDH1B1; score == 671; expect == 0.0; MEOW:HUgn0000219 (64%) |species == Fruitfly; gene == CG3752; score == 665; expect == 0.0; MEOW:FBgn0032114 (65%) |species == Mosquito; score == 635; expect == 0.0; MEOW:AGgn0020207 (62%) |species == Mosquito; gene == LOC13314; score == 594; expect == 2e-170; MEOW:AGgn0013314 (61%) |species == Worm; gene == alh-1; score == 578; expect == 2e-165; MEOW:CEgn0030742 (65%) |species == Weed; gene == At3g48000; score == 575; expect == 2e-164; MEOW:ATgn0014377 (56%) |species == Mosquito; gene == LOC11393; score == 569; expect == 8e-163; MEOW:AGgn0011393 (58%) |species == Fruitfly; gene == CG31075; score == 565; expect == 1e-161; MEOW:FBgn0051075 (58%) |species == Weed; gene == At1g23800; score == 558; expect == 2e-159; MEOW:ATgn0006653 (57%) |species == rice; score == 523; expect == 2e-148; MEOW:gnl|TIGR|8354.m03621 (53%) |species == rice; score == 522; expect == 4e-148; MEOW:gnl|TIGR|8351.m04744 (51%) |species == rice; score == 504; expect == 1e-142; MEOW:gnl|TIGR|8350.m03745 (50%) |species == Weed; gene == At3g24503; score == 500; expect == 8e-142; MEOW:ATgn0029241 (51%) |species == Yeast; gene == ALD4; score == 462; expect == 2e-130; MEOW:SGgn0005901 (49%) |species == Yeast; gene == ALD5; score == 460; expect == 2e-130; MEOW:SGgn0000875 (48%) |species == Yeast; gene == ALD2; score == 447; expect == 2e-126; MEOW:SGgn0004780 (47%) |species == rice; score == 443; expect == 2e-124; MEOW:gnl|TIGR|8350.m03744 (47%) |species == Yeast; gene == ALD3; score == 441; expect == 2e-124; MEOW:SGgn0004779 (46%) |species == Yeast; gene == ALD6; score == 439; expect == 2e-123; MEOW:SGgn0005982 (46%) |species == ecoli; score == 369; expect == 3e-103; MEOW:ref|NP_414846.1| (39%) |species == ecoli; score == 365; expect == 4e-102; MEOW:ref|NP_415816.1| (39%) |species == ecoli; score == 345; expect == 4.0e-96; MEOW:ref|NP_415903.1| (38%) |species == ecoli; score == 330; expect == 1.3e-91; MEOW:ref|NP_418045.1| (39%) |species == ecoli; score == 307; expect == 1.2e-84; MEOW:ref|NP_417147.1| (36%) |species == ecoli; score == 303; expect == 1.7e-83; MEOW:ref|NP_415961.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0000217 CHR 1 12 DID 1 LocusLink:217 MAP 1 12q24.2 NAM 1 aldehyde dehydrogenase 2 family (mitochondrial) ORG 1 Homo sapiens SYM 1 ALDH2 ID|HUgn0000217 DID|LocusLink:217 ORG|Homo sapiens RSQ|REFSEQ:NM_000690 RPA|REFPROT:NP_000681 DBA|XM:NM_000690 |NA:AF164120 |NA:M20444 |NA:M20456 |NA:BC002967 |NA:K03001 |NA:M26760 |NA:M54931 |NA:X05409 |NA:Y00109 |NA:none PAC|XP:NP_000681 SYM|ALDH2 NAM|aldehyde dehydrogenase 2 family (mitochondrial) SYN|ALDM |ALDHI |ALDH-E2 |MGC1806 FNC|mitochondrial aldehyde dehydrogenase 2 precursor |alcohol metabolism ; GO:0006066 |carbohydrate metabolism ; GO:0005975 REAB|This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase |is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major |liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished |by their electrophoretic mobilities, kinetic properties, and subcellular localizations. |Most Caucasians have two major isozymes, while approximately 50% of Orientals have |only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher |frequency of acute alcohol intoxication among Orientals than among Caucasians could |be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial |isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial |matrix. CHR|12 PRD|ALDH class 2 |liver mitochondrial ALDH |acetaldehyde dehydrogenase 2 |nucleus-encoded mitochondrial aldehyde dehydrogenase 2 DBL|OMIM:100650 |SNP:217 |UWCM:119668.html ENZ|EC:1.2.1.3 |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |aldehyde dehydrogenase [NAD(P)] activity ; GO:0004030 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|12q24.2 PHP|?Fetal alcohol syndrome |Alcohol intolerance, acute URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=217[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119668 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000690 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000690 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24696 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Aldh2; score == 961; expect == 0.0; MEOW:MGgn0000309 (94%) |species == Human; gene == ALDH1B1; score == 746; expect == 0.0; MEOW:HUgn0000219 (72%) |species == Fruitfly; gene == CG3752; score == 735; expect == 0.0; MEOW:FBgn0032114 (71%) |species == rat; score == 710; expect == 0.0; MEOW:ref|NP_446348.1| (67%) |species == Human; gene == ALDH1A2; score == 709; expect == 0.0; MEOW:HUgn0008854 (67%) |species == Human; gene == ALDH1A1; score == 702; expect == 0.0; MEOW:HUgn0000216 (68%) |species == Mosquito; score == 697; expect == 0.0; MEOW:AGgn0020207 (71%) |species == Zfish; gene == aldh1a2; score == 680; expect == 0.0; MEOW:ZFgn0002332 (67%) |species == rat; score == 678; expect == 0.0; MEOW:ref|NP_695212.1| (66%) |species == Human; gene == ALDH1A3; score == 676; expect == 0.0; MEOW:HUgn0000220 (66%) |species == rat; score == 672; expect == 0.0; MEOW:ref|NP_071852.2| (67%) |species == rat; score == 653; expect == 0.0; MEOW:ref|NP_058968.14| (65%) |species == Worm; gene == alh-1; score == 620; expect == 3e-178; MEOW:CEgn0030742 (70%) |species == Weed; gene == At3g48000; score == 613; expect == 7e-176; MEOW:ATgn0014377 (62%) |species == rat; score == 613; expect == 7e-176; MEOW:ref|XP_346440.1| (96%) |species == Weed; gene == At1g23800; score == 599; expect == 2e-171; MEOW:ATgn0006653 (61%) |species == Mosquito; gene == LOC13314; score == 585; expect == 2e-167; MEOW:AGgn0013314 (59%) |species == Mosquito; gene == LOC11393; score == 562; expect == 8e-161; MEOW:AGgn0011393 (61%) |species == rice; score == 555; expect == 3e-158; MEOW:gnl|TIGR|8351.m04744 (58%) |species == rice; score == 513; expect == 2e-145; MEOW:gnl|TIGR|8350.m03745 (54%) |species == rice; score == 509; expect == 2e-144; MEOW:gnl|TIGR|8354.m03621 (54%) |species == Weed; gene == At3g24503; score == 497; expect == 7e-141; MEOW:ATgn0029241 (54%) |species == Yeast; gene == ALD4; score == 488; expect == 4e-138; MEOW:SGgn0005901 (51%) |species == rice; score == 448; expect == 4e-126; MEOW:gnl|TIGR|8350.m03744 (48%) |species == Yeast; gene == ALD5; score == 447; expect == 2e-126; MEOW:SGgn0000875 (46%) |species == Yeast; gene == ALD6; score == 444; expect == 5e-125; MEOW:SGgn0005982 (47%) |species == Yeast; gene == ALD2; score == 412; expect == 7e-116; MEOW:SGgn0004780 (48%) |species == Yeast; gene == ALD3; score == 405; expect == 8e-114; MEOW:SGgn0004779 (47%) |species == ecoli; score == 374; expect == 5e-104; MEOW:ref|NP_414846.1| (42%) |species == ecoli; score == 368; expect == 6e-103; MEOW:ref|NP_415816.1| (42%) |species == ecoli; score == 354; expect == 1.2e-98; MEOW:ref|NP_418045.1| (42%) |species == ecoli; score == 325; expect == 4.4e-90; MEOW:ref|NP_415903.1| (39%) } # EOR GENR { RETE|ID 1 HUgn0000218 CHR 1 17 DID 1 LocusLink:218 MAP 1 17p11.2 NAM 1 aldehyde dehydrogenase 3 family, memberA1 ORG 1 Homo sapiens SYM 1 ALDH3A1 ID|HUgn0000218 DID|LocusLink:218 ORG|Homo sapiens RSQ|REFSEQ:NM_000691 RPA|REFPROT:NP_000682 DBA|XM:NM_000691 |NA:AK091272 |NA:AK093755 |NA:AK093877 |NA:BC004102 |NA:BC004370 |NA:BC008892 |NA:BC021194 |NA:BT007102 |NA:M74542 |NA:M77477 |NA:S61044 |NA:none PAC|XP:NP_000682 SYM|ALDH3A1 NAM|aldehyde dehydrogenase 3 family, memberA1 SYN|ALDH3 |ALDHIII |MGC10406 FNC|aldehyde dehydrogenase 3 family, member A1 |aldehyde metabolism ; GO:0006081 |carbohydrate metabolism ; GO:0005975 REAB|Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They |are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism |of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. |The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially |oxidizes aromatic aldehyde substrates. The gene is located within the Smith-Magenis |syndrome region on chromosome 17. CHR|17 PRD|ALDH, stomach type |acetaldehyde dehydrogenase |aldehyde dehydrogenase, dimeric NADP-preferring URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=575 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=218[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000691 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000691 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=575 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.575 |OMIM:100660 |SNP:218 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase activity ; GO:0004028 |electron transporter activity ; GO:0005489 MAP|17p11.2 CEL|cytosol ; GO:0005829 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_114178.1| (81%) |species == Mouse; gene == Aldh3a1; score == 752; expect == 0.0; MEOW:MGgn0013501 (80%) |species == Human; gene == ALDH3A2; score == 618; expect == 3e-177; MEOW:HUgn0000224 (67%) |species == Human; gene == ALDH3B1; score == 502; expect == 2e-142; MEOW:HUgn0000221 (53%) |species == Fruitfly; gene == Aldh-III; score == 471; expect == 3e-133; MEOW:FBgn0010548 (50%) |species == Mosquito; score == 460; expect == 6e-130; MEOW:AGgn0025470 (51%) |species == Worm; gene == alh-4; score == 448; expect == 4e-126; MEOW:CEgn0030745 (50%) |species == Zfish; gene == aldh3d1; score == 441; expect == 5e-124; MEOW:ZFgn0007310 (47%) |species == Weed; gene == At1g44170; score == 401; expect == 5e-112; MEOW:ATgn0004094 (46%) |species == Mosquito; gene == LOC9992; score == 400; expect == 1e-111; MEOW:AGgn0009992 (42%) |species == Mosquito; score == 392; expect == 2e-109; MEOW:AGgn0025842 (50%) |species == rice; score == 379; expect == 5e-105; MEOW:gnl|TIGR|8358.m00746 (45%) |species == Weed; gene == At4g34240; score == 367; expect == 7e-102; MEOW:ATgn0019160 (44%) |species == rice; score == 351; expect == 1.2e-96; MEOW:gnl|TIGR|8359.m00680 (47%) |species == rice; score == 316; expect == 4.3e-86; MEOW:gnl|TIGR|8352.m04226 (41%) |species == Yeast; gene == YMR110C; score == 243; expect == 4.5e-65; MEOW:SGgn0004716 (34%) |species == ecoli; score == 151; expect == 1.3e-37; MEOW:ref|NP_415933.1| (32%) |species == ecoli; score == 143; expect == 2.0e-35; MEOW:ref|NP_414846.1| (29%) |species == ecoli; score == 143; expect == 2.0e-35; MEOW:ref|NP_415816.1| (32%) |species == ecoli; score == 142; expect == 5.9e-35; MEOW:ref|NP_415903.1| (29%) |species == ecoli; score == 136; expect == 3.2e-33; MEOW:ref|NP_418045.1| (31%) |species == ecoli; score == 134; expect == 1.2e-32; MEOW:ref|NP_417147.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000219 CHR 1 9 DID 1 LocusLink:219 MAP 1 9p11.1 NAM 1 aldehyde dehydrogenase 1 family, member B1 ORG 1 Homo sapiens SYM 1 ALDH1B1 ID|HUgn0000219 DID|LocusLink:219 ORG|Homo sapiens RSQ|REFSEQ:NM_000692 RPA|REFPROT:NP_000683 DBA|XM:NM_000692 |NA:AL135785 |NA:M63967 |NA:BC001619 |NA:BE889810 |NA:BT007418 |NA:none PAC|XP:NP_000683 SYM|ALDH1B1 NAM|aldehyde dehydrogenase 1 family, member B1 SYN|ALDH5 |ALDHX |MGC2230 FNC|aldehyde dehydrogenase 1B1 precursor REAB|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde |dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. |This gene does not contain introns in the coding sequence. The variation of this |locus may affect the development of alcohol-related problems. CHR|9 PRD|ALDH class 2 |aldehyde dehydrogenase 5 |acetaldehyde dehydrogenase 5 |mitochondrial aldehyde dehydrogenase X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436219 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=219[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128788 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000692 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000692 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436219 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.436219 |OMIM:100670 |SNP:219 ENZ|EC:1.2.1.3 MAP|9p11.1 HG|species == Mouse; gene == Aldh1b1; score == 948; expect == 0.0; MEOW:MGgn0021283 (94%) |species == Human; gene == ALDH2; score == 746; expect == 0.0; MEOW:HUgn0000217 (72%) |species == Human; gene == ALDH1A2; score == 706; expect == 0.0; MEOW:HUgn0008854 (66%) |species == Fruitfly; gene == CG3752; score == 704; expect == 0.0; MEOW:FBgn0032114 (66%) |species == rat; score == 703; expect == 0.0; MEOW:ref|NP_446348.1| (66%) |species == Zfish; gene == aldh1a2; score == 681; expect == 0.0; MEOW:ZFgn0002332 (68%) |species == Human; gene == ALDH1A1; score == 671; expect == 0.0; MEOW:HUgn0000216 (64%) |species == Human; gene == ALDH1A3; score == 661; expect == 0.0; MEOW:HUgn0000220 (64%) |species == rat; score == 658; expect == 0.0; MEOW:ref|NP_695212.1| (63%) |species == rat; score == 657; expect == 0.0; MEOW:ref|NP_071852.2| (65%) |species == Mosquito; score == 645; expect == 0.0; MEOW:AGgn0020207 (64%) |species == rat; score == 618; expect == 3e-177; MEOW:ref|NP_058968.14| (64%) |species == rat; score == 595; expect == 2e-170; MEOW:ref|XP_216405.2| (94%) |species == Worm; gene == alh-1; score == 588; expect == 2e-168; MEOW:CEgn0030742 (67%) |species == Mosquito; gene == LOC13314; score == 586; expect == 8e-168; MEOW:AGgn0013314 (58%) |species == Weed; gene == At3g48000; score == 581; expect == 3e-166; MEOW:ATgn0014377 (56%) |species == Weed; gene == At1g23800; score == 573; expect == 1e-163; MEOW:ATgn0006653 (57%) |species == Mosquito; gene == LOC11393; score == 548; expect == 1e-156; MEOW:AGgn0011393 (59%) |species == rice; score == 526; expect == 2e-149; MEOW:gnl|TIGR|8351.m04744 (53%) |species == rice; score == 504; expect == 5e-143; MEOW:gnl|TIGR|8354.m03621 (55%) |species == Yeast; gene == ALD4; score == 491; expect == 3e-139; MEOW:SGgn0005901 (50%) |species == Weed; gene == At3g24503; score == 482; expect == 2e-136; MEOW:ATgn0029241 (51%) |species == rice; score == 468; expect == 3e-132; MEOW:gnl|TIGR|8350.m03745 (52%) |species == Yeast; gene == ALD5; score == 440; expect == 1e-123; MEOW:SGgn0000875 (46%) |species == Yeast; gene == ALD6; score == 430; expect == 1e-120; MEOW:SGgn0005982 (47%) |species == rice; score == 424; expect == 4e-119; MEOW:gnl|TIGR|8350.m03744 (46%) |species == Yeast; gene == ALD2; score == 404; expect == 8e-113; MEOW:SGgn0004780 (44%) |species == Yeast; gene == ALD3; score == 399; expect == 3e-111; MEOW:SGgn0004779 (43%) |species == ecoli; score == 368; expect == 5e-103; MEOW:ref|NP_415816.1| (42%) |species == ecoli; score == 355; expect == 2.4e-98; MEOW:ref|NP_414846.1| (40%) |species == ecoli; score == 333; expect == 2.1e-92; MEOW:ref|NP_418045.1| (41%) |species == ecoli; score == 329; expect == 2.5e-90; MEOW:ref|NP_415903.1| (39%) |species == ecoli; score == 300; expect == 1.6e-81; MEOW:ref|NP_417147.1| (36%) } # EOR GENR { RETE|ID 1 HUgn0000220 CHR 1 15 DID 1 LocusLink:220 MAP 1 15q26.3 NAM 1 aldehyde dehydrogenase 1 family, member A3 ORG 1 Homo sapiens SYM 1 ALDH1A3 ID|HUgn0000220 DID|LocusLink:220 ORG|Homo sapiens RSQ|REFSEQ:NM_000693 RPA|REFPROT:NP_000684 DBA|XM:NM_000693 |NA:AL110109 |NA:BC009245 |NA:BX538027 |NA:U07919 |NA:none PAC|XP:NP_000684 SYM|ALDH1A3 NAM|aldehyde dehydrogenase 1 family, member A3 SYN|ALDH6 |RALDH3 |ALDH1A6 FNC|aldehyde dehydrogenase 1A3 |alcohol metabolism ; GO:0006066 |lipid metabolism ; GO:0006629 REAB|Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification |of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene for |this human isozyme spans about 37 kb and consists of 13 exons. It is expressed at |low levels in many tissues and at higher levels in salivary gland, stomach and kidney. |The major transcript is approximately 3.5 kb; however, there is a less abundant |transcript that is smaller by 111 bp in the 3' non-coding region and uses an alternative |polyadenylation signal. The significance of alternative splicing of this gene is |currently unclear. CHR|15 PRD|aldehyde dehydrogenase 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75746 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=220[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:364103 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000693 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000693 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.75746 |OMIM:600463 |SNP:220 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase activity ; GO:0004028 MAP|15q26.3 HG|species == rat; score == 989; expect == 0.0; MEOW:ref|NP_695212.1| (93%) |species == Mouse; gene == Aldh1a3; score == 986; expect == 0.0; MEOW:MGgn0014335 (93%) |species == Human; gene == ALDH1A2; score == 747; expect == 0.0; MEOW:HUgn0008854 (71%) |species == Human; gene == ALDH1A1; score == 734; expect == 0.0; MEOW:HUgn0000216 (70%) |species == Zfish; gene == aldh1a2; score == 716; expect == 0.0; MEOW:ZFgn0002332 (69%) |species == Human; gene == ALDH2; score == 676; expect == 0.0; MEOW:HUgn0000217 (66%) |species == Human; gene == ALDH1B1; score == 661; expect == 0.0; MEOW:HUgn0000219 (64%) |species == Fruitfly; gene == CG3752; score == 642; expect == 0.0; MEOW:FBgn0032114 (61%) |species == Mosquito; score == 615; expect == 1e-176; MEOW:AGgn0020207 (60%) |species == Mosquito; gene == LOC13314; score == 566; expect == 1e-161; MEOW:AGgn0013314 (56%) |species == Fruitfly; gene == CG31075; score == 562; expect == 8e-161; MEOW:FBgn0051075 (57%) |species == Mosquito; gene == LOC11393; score == 559; expect == 7e-160; MEOW:AGgn0011393 (57%) |species == Weed; gene == At3g48000; score == 557; expect == 6e-159; MEOW:ATgn0014377 (57%) |species == Weed; gene == At1g23800; score == 543; expect == 7e-155; MEOW:ATgn0006653 (57%) |species == Worm; gene == alh-1; score == 533; expect == 5e-152; MEOW:CEgn0030742 (61%) |species == rice; score == 509; expect == 3e-144; MEOW:gnl|TIGR|8351.m04744 (51%) |species == rice; score == 495; expect == 5e-140; MEOW:gnl|TIGR|8350.m03745 (50%) |species == rice; score == 490; expect == 3e-138; MEOW:gnl|TIGR|8354.m03621 (51%) |species == Weed; gene == At3g24503; score == 478; expect == 4e-135; MEOW:ATgn0029241 (48%) |species == Yeast; gene == ALD4; score == 476; expect == 2e-134; MEOW:SGgn0005901 (50%) |species == Yeast; gene == ALD5; score == 448; expect == 1e-126; MEOW:SGgn0000875 (48%) |species == Yeast; gene == ALD6; score == 441; expect == 1e-124; MEOW:SGgn0005982 (48%) |species == rice; score == 431; expect == 1e-120; MEOW:gnl|TIGR|8350.m03744 (48%) |species == Yeast; gene == ALD2; score == 424; expect == 2e-119; MEOW:SGgn0004780 (47%) |species == Yeast; gene == ALD3; score == 421; expect == 1e-118; MEOW:SGgn0004779 (46%) |species == ecoli; score == 383; expect == 2e-107; MEOW:ref|NP_414846.1| (40%) |species == ecoli; score == 374; expect == 6e-105; MEOW:ref|NP_415816.1| (41%) |species == ecoli; score == 342; expect == 2.6e-95; MEOW:ref|NP_418045.1| (39%) |species == ecoli; score == 336; expect == 1.9e-93; MEOW:ref|NP_415903.1| (38%) |species == ecoli; score == 323; expect == 1.7e-88; MEOW:ref|NP_417147.1| (38%) } # EOR GENR { RETE|ID 1 HUgn0000221 CHR 1 11 DID 1 LocusLink:221 MAP 1 11q13 NAM 1 aldehyde dehydrogenase 3 family, member B1 ORG 1 Homo sapiens SYM 1 ALDH3B1 ID|HUgn0000221 DID|LocusLink:221 ORG|Homo sapiens RSQ|REFSEQ:NM_000694 RPA|REFPROT:NP_000685 DBA|XM:NM_000694 |NA:BC002553 |NA:BC013584 |NA:BC014168 |NA:BC019911 |NA:BC033099 |NA:BT009832 |NA:U10868 |NA:none PAC|XP:NP_000685 SYM|ALDH3B1 NAM|aldehyde dehydrogenase 3 family, member B1 SYN|ALDH4 |ALDH7 FNC|aldehyde dehydrogenase 3B1 |alcohol metabolism ; GO:0006066 |lipid metabolism ; GO:0006629 REAB|The aldehyde dehydrogenases are a family of isozymes that may play a major role in |the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. |This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding |exons. The gene encodes a single transcript of 2.8 kb which is highly expressed |in kidney and lung. The functional significance of this gene as well as the cellular |localization of its product are presently unknown. CHR|11 PRD|aldehyde dehydrogenase 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274235 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=221[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:309335 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000694 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000694 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274235 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.274235 |OMIM:600466 |SNP:221 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase activity ; GO:0004028 MAP|11q13 HG|species == rat; score == 758; expect == 0.0; MEOW:ref|XP_341974.1| (78%) |species == rat; score == 749; expect == 0.0; MEOW:ref|XP_341975.1| (78%) |species == rat; score == 738; expect == 0.0; MEOW:ref|XP_239017.2| (86%) |species == Human; gene == ALDH3B2; score == 645; expect == 0.0; MEOW:HUgn0000222 (82%) |species == Zfish; gene == aldh3d1; score == 514; expect == 3e-147; MEOW:ZFgn0007310 (53%) |species == Mouse; gene == Aldh3a1; score == 498; expect == 2e-141; MEOW:MGgn0013501 (52%) |species == Mouse; gene == Aldh3a2; score == 498; expect == 2e-141; MEOW:MGgn0013502 (54%) |species == Fruitfly; gene == Aldh-III; score == 486; expect == 2e-137; MEOW:FBgn0010548 (51%) |species == Mosquito; score == 461; expect == 3e-130; MEOW:AGgn0025470 (50%) |species == Worm; gene == alh-4; score == 429; expect == 1e-120; MEOW:CEgn0030745 (48%) |species == rice; score == 399; expect == 4e-111; MEOW:gnl|TIGR|8358.m00746 (46%) |species == Mosquito; gene == LOC9992; score == 397; expect == 1e-110; MEOW:AGgn0009992 (48%) |species == Mosquito; score == 397; expect == 3e-111; MEOW:AGgn0025842 (49%) |species == Weed; gene == At4g34240; score == 371; expect == 5e-103; MEOW:ATgn0019160 (41%) |species == Weed; gene == At1g44170; score == 370; expect == 7e-103; MEOW:ATgn0004094 (43%) |species == rice; score == 354; expect == 1.1e-97; MEOW:gnl|TIGR|8359.m00680 (45%) |species == rice; score == 337; expect == 1.4e-92; MEOW:gnl|TIGR|8352.m04226 (41%) |species == Weed; gene == At4g36250; score == 323; expect == 1.5e-88; MEOW:ATgn0017305 (40%) |species == Yeast; gene == YMR110C; score == 251; expect == 2.2e-67; MEOW:SGgn0004716 (33%) |species == ecoli; score == 145; expect == 7.3e-36; MEOW:ref|NP_415961.1| (26%) |species == ecoli; score == 142; expect == 6.2e-35; MEOW:ref|NP_418045.1| (28%) |species == ecoli; score == 141; expect == 1.4e-34; MEOW:ref|NP_414846.1| (31%) |species == ecoli; score == 141; expect == 1.4e-34; MEOW:ref|NP_417147.1| (28%) |species == ecoli; score == 136; expect == 2.6e-33; MEOW:ref|NP_415903.1| (30%) |species == ecoli; score == 132; expect == 3.7e-32; MEOW:ref|NP_415933.1| (28%) |species == ecoli; score == 129; expect == 4.1e-31; MEOW:ref|NP_415816.1| (30%) } # EOR GENR { RETE|ID 1 HUgn0000222 CHR 1 11 DID 1 LocusLink:222 MAP 1 11q13 NAM 1 aldehyde dehydrogenase 3 family, member B2 ORG 1 Homo sapiens SYM 1 ALDH3B2 ID|HUgn0000222 DID|LocusLink:222 ORG|Homo sapiens RSQ|REFSEQ:NM_000695 RPA|REFPROT:NP_000686 DBA|XM:NM_000695 |NA:AK092464 |NA:BC007685 |NA:BT006810 |NA:U37519 |NA:none PAC|XP:NP_000686 SYM|ALDH3B2 NAM|aldehyde dehydrogenase 3 family, member B2 SYN|ALDH8 FNC|aldehyde dehydrogenase 3B2 |alcohol metabolism ; GO:0006066 |lipid metabolism ; GO:0006629 REAB|The aldehyde dehydrogenases are a family of isozymes that may play a major role in |the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. |This particular family member is over 10 kb in length and consists of at least 10 |exons. Although the gene is highly homologous to closely related family members, |an earlier in-frame stop codon suggests several possibilities. It could represent |a nonprocessed pseudogene, a functional gene where the premature stop codon is suppressed, |or a gene product where a downstream in-frame ATG serves as the initiator codon. |The expression of these transcripts is restricted to the salivary gland among the |human tissues examined. CHR|11 PRD|aldehyde dehydrogenase 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87539 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=222[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220125 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000695 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000695 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=87539 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.87539 |OMIM:601917 |SNP:222 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase [NAD(P)] activity ; GO:0004030 |oxidoreductase activity ; GO:0016491 MAP|11q13 HG|species == rat; score == 647; expect == 0.0; MEOW:ref|XP_341975.1| (80%) |species == Human; gene == ALDH3B1; score == 645; expect == 0.0; MEOW:HUgn0000221 (82%) |species == rat; score == 637; expect == 0.0; MEOW:ref|XP_341974.1| (79%) |species == rat; score == 611; expect == 3e-175; MEOW:ref|XP_239017.2| (77%) |species == Zfish; gene == aldh3d1; score == 429; expect == 1e-120; MEOW:ZFgn0007310 (55%) |species == Fruitfly; gene == Aldh-III; score == 419; expect == 2e-117; MEOW:FBgn0010548 (54%) |species == Mouse; gene == Aldh3a1; score == 403; expect == 1e-112; MEOW:MGgn0013501 (52%) |species == Mouse; gene == Aldh3a2; score == 397; expect == 3e-111; MEOW:MGgn0013502 (52%) |species == Mosquito; score == 392; expect == 3e-109; MEOW:AGgn0025470 (51%) |species == Mosquito; score == 341; expect == 4.1e-94; MEOW:AGgn0025842 (52%) |species == Mosquito; gene == LOC9992; score == 334; expect == 6.8e-92; MEOW:AGgn0009992 (50%) |species == Worm; gene == alh-4; score == 329; expect == 1.9e-90; MEOW:CEgn0030745 (45%) |species == rice; score == 313; expect == 1.7e-85; MEOW:gnl|TIGR|8358.m00746 (46%) |species == Weed; gene == At1g44170; score == 301; expect == 5.4e-82; MEOW:ATgn0004094 (41%) |species == rice; score == 297; expect == 1.7e-80; MEOW:gnl|TIGR|8359.m00680 (43%) |species == Weed; gene == At4g34240; score == 289; expect == 1.6e-78; MEOW:ATgn0019160 (39%) |species == Weed; gene == At4g36250; score == 267; expect == 9.8e-72; MEOW:ATgn0017305 (40%) |species == rice; score == 267; expect == 1.8e-71; MEOW:gnl|TIGR|8352.m04226 (42%) |species == Yeast; gene == YMR110C; score == 209; expect == 4.5e-55; MEOW:SGgn0004716 (34%) |species == ecoli; score == 136; expect == 2.7e-33; MEOW:ref|NP_417147.1| (30%) |species == ecoli; score == 135; expect == 6.0e-33; MEOW:ref|NP_414846.1| (30%) |species == ecoli; score == 129; expect == 3.3e-31; MEOW:ref|NP_415961.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000223 CHR 1 1 DID 1 LocusLink:223 MAP 1 1q23.1 NAM 1 aldehyde dehydrogenase 9 family, member A1 ORG 1 Homo sapiens SYM 1 ALDH9A1 ID|HUgn0000223 DID|LocusLink:223 ORG|Homo sapiens RSQ|REFSEQ:NM_000696 RPA|REFPROT:NP_000687 DBA|XM:NM_000696 |NA:AF172093 |NA:BC011410 |NA:U34252 |NA:U50203 |NA:X75425 |NA:none PAC|XP:NP_000687 SYM|ALDH9A1 NAM|aldehyde dehydrogenase 9 family, member A1 SYN|E3 |ALDH4 |ALDH7 |ALDH9 |TMABADH FNC|aldehyde dehydrogenase 9A1 |aldehyde metabolism ; GO:0006081 REAB|This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high |activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The |enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric |acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. CHR|1 PRD|aldehyde dehydrogenase (NAD+) |aldehyde dehydrogenase E3 isozyme |R-aminobutyraldehyde dehydrogenase |gamma-aminobutyraldehyde dehydrogenase |4-trimethylaminobutyraldehyde dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2533 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=223[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220126 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000696 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000696 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.2533 |OMIM:602733 |SNP:223 ENZ|EC:1.2.1.3 |EC:1.2.1.19 |EC:1.2.1.47 |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 |aminobutyraldehyde dehydrogenase activity ; GO:0019145 MAP|1q23.1 HG|species == Mouse; gene == Aldh9a1; score == 928; expect == 0.0; MEOW:MGgn0014336 (90%) |species == rat; score == 920; expect == 0.0; MEOW:ref|NP_071609.1| (90%) |species == ecoli; score == 479; expect == 1e-135; MEOW:ref|NP_414846.1| (51%) |species == Worm; gene == alh-11; score == 446; expect == 1e-125; MEOW:CEgn0030752 (47%) |species == Worm; gene == alh-12; score == 371; expect == 5e-103; MEOW:CEgn0030753 (50%) |species == Fruitfly; gene == CG3752; score == 370; expect == 1e-102; MEOW:FBgn0032114 (41%) |species == Human; gene == ALDH2; score == 358; expect == 5.0e-99; MEOW:HUgn0000217 (43%) |species == Weed; gene == At3g48000; score == 350; expect == 1.1e-96; MEOW:ATgn0014377 (41%) |species == Mosquito; score == 347; expect == 3.7e-96; MEOW:AGgn0020207 (40%) |species == Human; gene == ALDH1B1; score == 347; expect == 1.1e-95; MEOW:HUgn0000219 (40%) |species == Human; gene == ALDH1A1; score == 344; expect == 5.7e-95; MEOW:HUgn0000216 (40%) |species == Human; gene == ALDH1A2; score == 344; expect == 1.0e-94; MEOW:HUgn0008854 (40%) |species == Human; gene == ALDH8A1; score == 344; expect == 9.5e-95; MEOW:HUgn0064577 (38%) |species == Mosquito; gene == LOC13314; score == 343; expect == 1.6e-94; MEOW:AGgn0013314 (40%) |species == Yeast; gene == ALD4; score == 342; expect == 2.3e-94; MEOW:SGgn0005901 (38%) |species == Weed; gene == At1g23800; score == 341; expect == 5.3e-94; MEOW:ATgn0006653 (39%) |species == Zfish; gene == aldh1a2; score == 335; expect == 3.6e-92; MEOW:ZFgn0002332 (40%) |species == rice; score == 333; expect == 1.4e-91; MEOW:gnl|TIGR|8354.m03621 (42%) |species == Weed; gene == At3g48170; score == 332; expect == 2.9e-91; MEOW:ATgn0014408 (40%) |species == Human; gene == FLJ38508; score == 332; expect == 6.0e-91; MEOW:HUgn0160428 (41%) |species == Yeast; gene == ALD5; score == 330; expect == 1.5e-90; MEOW:SGgn0000875 (39%) |species == Human; gene == FTHFD; score == 328; expect == 5.5e-90; MEOW:HUgn0010840 (39%) |species == rice; score == 327; expect == 1.6e-89; MEOW:gnl|TIGR|8350.m03745 (40%) |species == Human; gene == ALDH1A3; score == 325; expect == 4.8e-89; MEOW:HUgn0000220 (37%) |species == Mosquito; score == 322; expect == 4.7e-88; MEOW:AGgn0021005 (39%) |species == Fruitfly; gene == CG8665; score == 322; expect == 6.1e-88; MEOW:FBgn0032945 (38%) |species == Mosquito; gene == LOC11393; score == 321; expect == 2.9e-88; MEOW:AGgn0011393 (40%) |species == Weed; gene == At1g74920; score == 316; expect == 1.7e-86; MEOW:ATgn0001093 (39%) |species == Fruitfly; gene == CG31075; score == 316; expect == 9.6e-87; MEOW:FBgn0051075 (38%) |species == rice; score == 314; expect == 1.0e-85; MEOW:gnl|TIGR|8351.m04744 (37%) |species == rice; score == 311; expect == 5.4e-85; MEOW:gnl|TIGR|8352.m03556 (38%) |species == rice; score == 307; expect == 1.8e-83; MEOW:gnl|TIGR|8356.m03155 (39%) |species == Weed; gene == At3g24503; score == 303; expect == 1.9e-82; MEOW:ATgn0029241 (38%) |species == Mosquito; gene == LOC14662; score == 297; expect == 7.7e-81; MEOW:AGgn0014662 (36%) |species == Weed; gene == At1g79440; score == 297; expect == 1.4e-80; MEOW:ATgn0005806 (38%) |species == Yeast; gene == ALD6; score == 297; expect == 8.0e-81; MEOW:SGgn0005982 (34%) |species == rice; score == 295; expect == 8.7e-80; MEOW:gnl|TIGR|8351.m00691 (37%) |species == Yeast; gene == ALD3; score == 284; expect == 2.0e-77; MEOW:SGgn0004779 (35%) |species == rice; score == 284; expect == 6.5e-77; MEOW:gnl|TIGR|8350.m03744 (36%) |species == Yeast; gene == ALD2; score == 281; expect == 2.2e-76; MEOW:SGgn0004780 (35%) |species == Yeast; gene == UGA2; score == 275; expect == 5.6e-74; MEOW:SGgn0000210 (35%) } # EOR GENR { RETE|ID 1 HUgn0000224 CHR 1 17 DID 1 LocusLink:224 MAP 1 17p11.2 NAM 1 aldehyde dehydrogenase 3 family, member A2 ORG 1 Homo sapiens SYM 1 ALDH3A2 ID|HUgn0000224 DID|LocusLink:224 ORG|Homo sapiens RSQ|REFSEQ:NM_000382 RPA|REFPROT:NP_000373 DBA|XM:NM_000382 |NA:U75286 |NA:U75295 |NA:U75296 |NA:AK025677 |NA:BC002430 |NA:L47162 |NA:U46689 |NA:none PAC|XP:NP_000373 SYM|ALDH3A2 NAM|aldehyde dehydrogenase 3 family, member A2 SYN|SLS |FALDH |ALDH10 FNC|aldehyde dehydrogenase 3A2 |epidermal differentiation ; GO:0008544 |peripheral nervous system development ; GO:0007422 |central nervous system development ; GO:0007417 |lipid metabolism ; GO:0006629 REAB|Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification |of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product |catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations |in the gene cause Sjogren-Larsson syndrome. CHR|17 PRD|aldehyde dehydrogenase 10 |fatty aldehyde dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440662 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=224[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1316855 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000382 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000382 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440662 |http://www.geneclinics.org/query?mim=270200 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.440662 |OMIM:270200 |SNP:224 |UWCM:555939.html ENZ|EC:1.2.1.3 |aldehyde dehydrogenase activity ; GO:0004028 MAP|17p11.2 PHP|Sjogren-Larsson syndrome HG|species == rat; score == 810; expect == 0.0; MEOW:ref|XP_346391.1| (85%) |species == Mouse; gene == Aldh3a2; score == 795; expect == 0.0; MEOW:MGgn0013502 (83%) |species == Human; gene == ALDH3A1; score == 618; expect == 3e-177; MEOW:HUgn0000218 (67%) |species == Human; gene == ALDH3B1; score == 508; expect == 3e-144; MEOW:HUgn0000221 (55%) |species == Fruitfly; gene == Aldh-III; score == 469; expect == 1e-132; MEOW:FBgn0010548 (48%) |species == Zfish; gene == aldh3d1; score == 469; expect == 2e-132; MEOW:ZFgn0007310 (50%) |species == Mosquito; score == 456; expect == 9e-129; MEOW:AGgn0025470 (51%) |species == Worm; gene == alh-4; score == 445; expect == 3e-125; MEOW:CEgn0030745 (48%) |species == Weed; gene == At1g44170; score == 401; expect == 6e-112; MEOW:ATgn0004094 (45%) |species == Mosquito; score == 393; expect == 9e-110; MEOW:AGgn0025842 (51%) |species == Mosquito; gene == LOC9992; score == 391; expect == 5e-109; MEOW:AGgn0009992 (48%) |species == rice; score == 383; expect == 3e-106; MEOW:gnl|TIGR|8358.m00746 (46%) |species == Weed; gene == At4g34240; score == 371; expect == 4e-103; MEOW:ATgn0019160 (44%) |species == rice; score == 335; expect == 3.9e-92; MEOW:gnl|TIGR|8359.m00680 (44%) |species == Weed; gene == At4g36250; score == 325; expect == 3.9e-89; MEOW:ATgn0017305 (39%) |species == rice; score == 316; expect == 3.5e-86; MEOW:gnl|TIGR|8352.m04226 (40%) |species == Yeast; gene == YMR110C; score == 248; expect == 2.0e-66; MEOW:SGgn0004716 (33%) |species == ecoli; score == 134; expect == 1.3e-32; MEOW:ref|NP_415903.1| (30%) |species == ecoli; score == 134; expect == 1.3e-32; MEOW:ref|NP_415933.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000225 CHR 1 12 DID 1 LocusLink:225 MAP 1 12q11-q12 NAM 1 ATP-binding cassette, sub-family D (ALD), member 2 ORG 1 Homo sapiens SYM 1 ABCD2 ID|HUgn0000225 DID|LocusLink:225 ORG|Homo sapiens RSQ|REFSEQ:NM_005164 RPA|REFPROT:NP_005155 DBA|XM:NM_005164 |NA:AF119822 |NA:AF119823 |NA:AF119824 |NA:AF119825 |NA:AF119826 |NA:AF119827 |NA:AF119828 |NA:AF119829 |NA:AF119830 |NA:AF119831 |NA:U28150 |NA:AJ000327 |NA:none PAC|XP:NP_005155 SYM|ABCD2 NAM|ATP-binding cassette, sub-family D (ALD), member 2 SYN|ALDR |ABC39 |ALDL1 |ALDRP FNC|ATP-binding cassette, sub-family D, member 2 |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which |is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. |All known peroxisomal ABC transporters are half transporters which require a partner |half transporter molecule to form a functional homodimeric or heterodimeric transporter. |The function of this peroxisomal membrane protein is unknown; however this protein |is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal |ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, |a severe demyelinating disease. This gene has been identified as a candidate for |a modifier gene, accounting for the extreme variation among adrenoleukodystrophy |phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, |a genetically heterogeneous disorder of peroxisomal biogenesis. CHR|12 PRD|hALDR |adrenoleukodystrophy-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=117852 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=225[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7171009 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005164 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005164 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.204+OR+mono_001.table.145+OR+mono_001.table.155 |http://www.humanabc.org DBL|UNIGENE:Hs.117852 |OMIM:601081 |SNP:225 MAP|12q11-q12 ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 CEL|peroxisome ; GO:0005777 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Abcd2; score == 1348; expect == 0.0; MEOW:MGgn0000021 (93%) |species == rat; score == 1340; expect == 0.0; MEOW:ref|NP_203503.1| (92%) |species == Human; gene == ABCD1; score == 937; expect == 0.0; MEOW:HUgn0000215 (69%) |species == Worm; gene == T02D1.5; score == 759; expect == 0.0; MEOW:CEgn0015206 (58%) |species == Mosquito; gene == LOC19853; score == 694; expect == 0.0; MEOW:AGgn0019853 (52%) |species == Fruitfly; gene == CG2316; score == 592; expect == 1e-169; MEOW:FBgn0039890 (56%) |species == Yeast; gene == PXA1; score == 370; expect == 3e-103; MEOW:SGgn0006068 (33%) |species == Yeast; gene == PXA2; score == 331; expect == 2.9e-91; MEOW:SGgn0001671 (32%) |species == rice; score == 309; expect == 9.4e-84; MEOW:gnl|TIGR|8353.m00071 (32%) |species == Weed; gene == At4g39850; score == 308; expect == 9.4e-84; MEOW:ATgn0017729 (31%) |species == rice; score == 302; expect == 1.1e-81; MEOW:gnl|TIGR|8350.m06906 (30%) } # EOR GENR { RETE|ID 1 HUgn0000226 CHR 1 16 DID 1 LocusLink:226 MAP 1 16q22-q24 NAM 1 aldolase A, fructose-bisphosphate ORG 1 Homo sapiens SYM 1 ALDOA ID|HUgn0000226 DID|LocusLink:226 ORG|Homo sapiens RSQ|REFSEQ:NM_000034 |REFSEQ:NM_184041 |REFSEQ:NM_184043 RPA|REFPROT:NP_000025 |REFPROT:NP_908930 |REFPROT:NP_908932 DBA|XM:NM_000034 |NA:X06352 |NA:X12447 |NA:AK026577 |NA:AK098778 |NA:BC000367 |NA:BC004333 |NA:BC010660 |NA:BC012880 |NA:BC013614 |NA:BC015888 |NA:BC016170 |NA:BC016800 |NA:BE893518 |NA:BQ719865 |NA:BX647566 |NA:CB151262 |NA:M11560 |NA:M21190 |NA:X05236 |NA:none PAC|XP:NP_000025 SYM|ALDOA NAM|aldolase A, fructose-bisphosphate SYN|ALDA |MGC10942 |MGC17716 |MGC17767 FNC|aldolase A |fructose metabolism ; GO:0006000 |striated muscle contraction ; GO:0006941 |glycolysis ; GO:0006096 REAB|This gene product, Aldolase A (fructose-bisphosphate aldolase) is a glycolytic enzyme |that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde |3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), |encoded by three different genes, are differentially expressed during development. |Aldolase A is found in the developing embryo and is produced in even greater amounts |in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine |and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency |has been associated with myopathy and hemolytic anemia. Alternative splicing of |this gene results in multiple transcript variants which encode the same protein. CHR|16 PRD|fructose-bisphosphate aldolase |Aldolase A, fructose-bisphosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=273415 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=226[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118993 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000034 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000034 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=273415 |http://www.geneclinics.org/query?mim=103850 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00030 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 DBL|UNIGENE:Hs.273415 |OMIM:103850 |SNP:226 ENZ|EC:4.1.2.13 |fructose-bisphosphate aldolase activity ; GO:0004332 |lyase activity ; GO:0016829 MAP|16q22-q24 PHP|Aldolase A deficiency HG|species == Mouse; gene == Aldo1; score == 682; expect == 0.0; MEOW:MGgn0000315 (97%) |species == rat; score == 678; expect == 0.0; MEOW:ref|NP_036627.1| (96%) |species == Mouse; gene == 4921524E03Rik; score == 652; expect == 0.0; MEOW:MGgn0040798 (93%) |species == Mouse; gene == 4933425L11Rik; score == 647; expect == 0.0; MEOW:MGgn0025182 (93%) |species == rat; score == 647; expect == 0.0; MEOW:ref|XP_234254.1| (93%) |species == Mouse; gene == Aldo3; score == 595; expect == 2e-170; MEOW:MGgn0000317 (81%) |species == rat; score == 593; expect == 5e-170; MEOW:ref|NP_036629.1| (81%) |species == Human; gene == ALDOC; score == 576; expect == 8e-165; MEOW:HUgn0000230 (81%) |species == Mosquito; gene == LOC24159; score == 513; expect == 6e-146; MEOW:AGgn0024159 (71%) |species == Human; gene == ALDOB; score == 499; expect == 9e-142; MEOW:HUgn0000229 (69%) |species == Mosquito; score == 494; expect == 4e-140; MEOW:AGgn0012760 (70%) |species == Fruitfly; gene == Ald; score == 471; expect == 2e-133; MEOW:FBgn0000064 (69%) |species == Worm; gene == T05D4.1; score == 454; expect == 3e-128; MEOW:CEgn0015479 (67%) |species == Weed; gene == At4g26530; score == 423; expect == 6e-119; MEOW:ATgn0017203 (64%) |species == Worm; gene == F01F1.12a; score == 422; expect == 1e-118; MEOW:CEgn0030645 (65%) |species == Weed; gene == At2g36460; score == 418; expect == 3e-117; MEOW:ATgn0007810 (62%) |species == Fruitfly; gene == CG5432; score == 414; expect == 5e-116; MEOW:FBgn0039425 (57%) |species == Weed; gene == At3g52930; score == 411; expect == 3e-115; MEOW:ATgn0012400 (62%) |species == rice; score == 406; expect == 2e-113; MEOW:gnl|TIGR|8354.m03770 (63%) |species == Weed; gene == At4g26520; score == 404; expect == 3e-113; MEOW:ATgn0017201 (59%) |species == rice; score == 392; expect == 2e-109; MEOW:gnl|TIGR|8353.m02920 (60%) |species == Weed; gene == At5g03690; score == 388; expect == 3e-108; MEOW:ATgn0024004 (63%) |species == rice; score == 365; expect == 2e-101; MEOW:gnl|TIGR|8356.m00164 (60%) |species == rice; score == 336; expect == 1.5e-92; MEOW:gnl|TIGR|8358.m00619 (53%) } # EOR GENR { RETE|ID 1 HUgn0000227 CHR 1 3 DID 1 LocusLink:227 MAP 1 3 NAM 1 aldolase A, fructose-bisphosphate pseudogene 1 ORG 1 Homo sapiens SYM 1 ALDOAP1 ID|HUgn0000227 DID|LocusLink:227 CLA|Pseudogene ORG|Homo sapiens SYM|ALDOAP1 NAM|aldolase A, fructose-bisphosphate pseudogene 1 CHR|3 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118994 } # EOR GENR { RETE|ID 1 HUgn0000228 CHR 1 10 DID 1 LocusLink:228 MAP 1 10q26.2 NAM 1 aldolase A, fructose-bisphosphate pseudogene 2 ORG 1 Homo sapiens SYM 1 ALDOAP2 ID|HUgn0000228 DID|LocusLink:228 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M21191 SYM|ALDOAP2 NAM|aldolase A, fructose-bisphosphate pseudogene 2 CHR|10 MAP|10q26.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118995 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=M21191 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M21191 } # EOR GENR { RETE|ID 1 HUgn0000229 CHR 1 9 DID 1 LocusLink:229 MAP 1 9q21.3-q22.2 NAM 1 aldolase B, fructose-bisphosphate ORG 1 Homo sapiens SYM 1 ALDOB ID|HUgn0000229 DID|LocusLink:229 ORG|Homo sapiens RSQ|REFSEQ:NM_000035 RPA|REFPROT:NP_000026 DBA|XM:NM_000035 |NA:D00183 |NA:M15656 |NA:AK026411 |NA:BC029399 |NA:K01177 |NA:X00270 |NA:X01098 |NA:X02747 |NA:none PAC|XP:NP_000026 SYM|ALDOB NAM|aldolase B, fructose-bisphosphate FNC|aldolase B, fructose-bisphosphate |fructose metabolism ; GO:0006000 |glycolysis ; GO:0006096 REAB|Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13 ) is a tetrameric glycolytic enzyme |that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde |3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes |which are distinguished by their electrophoretic and catalytic properties. Differences |indicate that aldolases A, B, and C are distinct proteins, the products of a family |of related 'housekeeping' genes exhibiting developmentally regulated expression |of the different isozymes. The developing embryo produces aldolase A, which is |produced in even greater amounts in adult muscle where it can be as much as 5% of |total cellular protein. In adult liver, kidney and intestine, aldolase A expression |is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase |A and C are expressed about equally. There is a high degree of homology between |aldolase A and C. Defects in ALDOB cause heriditary fructose intolerance. CHR|9 PRD|Aldolase B, fructose-bisphosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315235 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=229[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119669 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000035 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000035 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=315235 |http://www.geneclinics.org/query?mim=229600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00030 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 |http://bio.bu.edu/~vfunari/ DBL|UNIGENE:Hs.315235 |OMIM:229600 |SNP:229 ENZ|EC:4.1.2.13 |fructose-bisphosphate aldolase activity ; GO:0004332 |lyase activity ; GO:0016829 MAP|9q21.3-q22.2 PHP|Fructose intolerance CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Aldo2; score == 678; expect == 0.0; MEOW:MGgn0000316 (95%) |species == rat; score == 673; expect == 0.0; MEOW:ref|NP_036628.1| (95%) |species == Human; gene == ALDOC; score == 504; expect == 3e-143; MEOW:HUgn0000230 (70%) |species == Human; gene == ALDOA; score == 499; expect == 9e-142; MEOW:HUgn0000226 (69%) |species == Mosquito; gene == LOC24159; score == 435; expect == 2e-122; MEOW:AGgn0024159 (61%) |species == Mosquito; score == 424; expect == 4e-119; MEOW:AGgn0012760 (62%) |species == Fruitfly; gene == Ald; score == 424; expect == 2e-119; MEOW:FBgn0000064 (65%) |species == Worm; gene == T05D4.1; score == 404; expect == 3e-113; MEOW:CEgn0015479 (58%) |species == Worm; gene == F01F1.12a; score == 386; expect == 8e-108; MEOW:CEgn0030645 (60%) |species == rice; score == 381; expect == 3e-106; MEOW:gnl|TIGR|8353.m02920 (57%) |species == Weed; gene == At2g36460; score == 380; expect == 8e-106; MEOW:ATgn0007810 (57%) |species == Weed; gene == At3g52930; score == 380; expect == 5e-106; MEOW:ATgn0012400 (57%) |species == Weed; gene == At4g26530; score == 379; expect == 1e-105; MEOW:ATgn0017203 (58%) |species == Weed; gene == At5g03690; score == 379; expect == 1e-105; MEOW:ATgn0024004 (58%) |species == rice; score == 365; expect == 5e-101; MEOW:gnl|TIGR|8354.m03770 (56%) |species == Weed; gene == At4g26520; score == 358; expect == 2.5e-99; MEOW:ATgn0017201 (54%) |species == Fruitfly; gene == CG5432; score == 357; expect == 4.4e-99; MEOW:FBgn0039425 (51%) |species == rice; score == 340; expect == 1.6e-93; MEOW:gnl|TIGR|8356.m00164 (55%) |species == Weed; gene == At4g38970; score == 314; expect == 6.2e-86; MEOW:ATgn0020441 (50%) |species == Weed; gene == At2g01140; score == 310; expect == 6.8e-85; MEOW:ATgn0011461 (50%) |species == rice; score == 308; expect == 3.3e-84; MEOW:gnl|TIGR|8358.m00619 (49%) |species == Weed; gene == At2g21330; score == 307; expect == 1.0e-83; MEOW:ATgn0010443 (49%) } # EOR GENR { RETE|ID 1 HUgn0000230 CHR 1 17 DID 1 LocusLink:230 MAP 1 17cen-q12 NAM 1 aldolase C, fructose-bisphosphate ORG 1 Homo sapiens SYM 1 ALDOC ID|HUgn0000230 DID|LocusLink:230 ORG|Homo sapiens RSQ|REFSEQ:NM_005165 RPA|REFPROT:NP_005156 DBA|XM:NM_005165 |NA:X05196 |NA:X07292 |NA:AF054987 |NA:BC003613 |NA:BT007006 |NA:none PAC|XP:NP_005156 SYM|ALDOC NAM|aldolase C, fructose-bisphosphate SYN|ALDC FNC|aldolase C, fructose-bisphosphate |fructose metabolism ; GO:0006000 |glycolysis ; GO:0006096 CHR|17 PRD|Aldolase C, fructose-bisphosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155247 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=230[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119670 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005165 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005165 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155247 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00030 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 DBL|UNIGENE:Hs.155247 |OMIM:103870 |SNP:230 ENZ|EC:4.1.2.13 |fructose-bisphosphate aldolase activity ; GO:0004332 |lyase activity ; GO:0016829 MAP|17cen-q12 HG|species == Mouse; gene == Aldo3; score == 711; expect == 0.0; MEOW:MGgn0000317 (97%) |species == rat; score == 705; expect == 0.0; MEOW:ref|NP_036629.1| (96%) |species == rat; score == 581; expect == 2e-166; MEOW:ref|NP_036627.1| (82%) |species == Mouse; gene == Aldo1; score == 580; expect == 3e-166; MEOW:MGgn0000315 (83%) |species == Human; gene == ALDOA; score == 576; expect == 8e-165; MEOW:HUgn0000226 (81%) |species == Mouse; gene == 4921524E03Rik; score == 564; expect == 2e-161; MEOW:MGgn0040798 (81%) |species == rat; score == 564; expect == 3e-161; MEOW:ref|XP_234254.1| (81%) |species == Mouse; gene == 4933425L11Rik; score == 559; expect == 7e-160; MEOW:MGgn0025182 (80%) |species == Mouse; gene == Aldo2; score == 510; expect == 5e-145; MEOW:MGgn0000316 (71%) |species == Human; gene == ALDOB; score == 504; expect == 3e-143; MEOW:HUgn0000229 (70%) |species == rat; score == 504; expect == 3e-143; MEOW:ref|NP_036628.1| (70%) |species == Mosquito; gene == LOC24159; score == 495; expect == 2e-140; MEOW:AGgn0024159 (70%) |species == Mosquito; score == 478; expect == 3e-135; MEOW:AGgn0012760 (70%) |species == Fruitfly; gene == Ald; score == 464; expect == 3e-131; MEOW:FBgn0000064 (70%) |species == Worm; gene == T05D4.1; score == 445; expect == 2e-125; MEOW:CEgn0015479 (65%) |species == Fruitfly; gene == CG5432; score == 412; expect == 1e-115; MEOW:FBgn0039425 (58%) |species == Weed; gene == At4g26530; score == 404; expect == 4e-113; MEOW:ATgn0017203 (60%) |species == Worm; gene == F01F1.12a; score == 400; expect == 5e-112; MEOW:CEgn0030645 (62%) |species == Weed; gene == At2g36460; score == 398; expect == 3e-111; MEOW:ATgn0007810 (59%) |species == Weed; gene == At3g52930; score == 398; expect == 3e-111; MEOW:ATgn0012400 (58%) |species == Weed; gene == At4g26520; score == 388; expect == 3e-108; MEOW:ATgn0017201 (55%) |species == rice; score == 385; expect == 3e-107; MEOW:gnl|TIGR|8354.m03770 (58%) |species == rice; score == 380; expect == 6e-106; MEOW:gnl|TIGR|8353.m02920 (55%) |species == Weed; gene == At5g03690; score == 373; expect == 8e-104; MEOW:ATgn0024004 (59%) |species == rice; score == 359; expect == 1.9e-99; MEOW:gnl|TIGR|8356.m00164 (56%) |species == rice; score == 316; expect == 1.6e-86; MEOW:gnl|TIGR|8358.m00619 (49%) } # EOR GENR { RETE|ID 1 HUgn0000231 CHR 1 7 DID 1 LocusLink:231 MAP 1 7q35 NAM 1 aldo-keto reductase family 1, member B1 (aldose reductase) ORG 1 Homo sapiens SYM 1 AKR1B1 ID|HUgn0000231 DID|LocusLink:231 ORG|Homo sapiens RSQ|REFSEQ:NM_001628 RPA|REFPROT:NP_001619 DBA|XM:NM_001628 |XM:NM_001628 |NA:AF032455 |NA:M59783 |NA:AF328729 |NA:AL833410 |NA:BC000260 |NA:BC005387 |NA:BC010391 |NA:J04795 |NA:J05017 |NA:J05474 |NA:M34720 |NA:X15414 |NA:none PAC|XP:NP_001619 |XP:NP_001619 SYM|AKR1B1 NAM|aldo-keto reductase family 1, member B1 (aldose reductase) SYN|AR |ADR |ALDR1 |MGC1804 FNC|aldo-keto reductase family 1, member B1 |carbohydrate metabolism ; GO:0005975 REAB|This gene encodes a member of the aldo/keto reductase superfamily, which consists |of more than 40 known enzymes and proteins. This member catalyzes the reduction |of a number of aldehydes, including the aldehyde form of glucose, and is thereby |implicated in the development of diabetic complications by catalyzing the reduction |of glucose to sorbitol. There are a few putative pseudogenes for this gene, and |one of them has been confirmed and mapped to chromosome 3. CHR|7 PRD|aldose reductase |aldehyde reductase 1 |low Km aldose reductase |Lii5-2 CTCL tumor antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75313 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=231[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128041 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001628 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001628 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75313 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00040 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24675 DBL|UNIGENE:Hs.75313 |OMIM:103880 |SNP:231 ENZ|EC:1.1.1.21 |aldehyde reductase activity ; GO:0004032 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|7q35 CEL|extracellular space ; GO:0005615 HG|species == Human; gene == LOC126242; score == 564; expect == 3e-161; MEOW:HUgn0126242 (89%) |species == rat; score == 547; expect == 4e-156; MEOW:ref|NP_036630.1| (85%) |species == Mouse; gene == Akr1b3; score == 545; expect == 1e-155; MEOW:MGgn0013499 (86%) |species == Human; gene == AKR1B10; score == 474; expect == 3e-134; MEOW:HUgn0057016 (70%) |species == rat; score == 444; expect == 4e-125; MEOW:ref|NP_775159.1| (71%) |species == Mouse; gene == 2310005E10Rik; score == 443; expect == 4e-125; MEOW:MGgn0019539 (70%) |species == Mouse; gene == Akr1b7; score == 441; expect == 2e-124; MEOW:MGgn0000657 (70%) |species == Mouse; gene == Akr1b8; score == 440; expect == 4e-124; MEOW:MGgn0004290 (70%) |species == Mosquito; gene == LOC23501; score == 364; expect == 4e-101; MEOW:AGgn0023501 (57%) |species == Fruitfly; gene == CG6084; score == 354; expect == 2.4e-98; MEOW:FBgn0036182 (57%) |species == Mosquito; gene == LOC3966; score == 339; expect == 1.7e-93; MEOW:AGgn0003966 (55%) |species == Mosquito; gene == LOC19781; score == 339; expect == 1.2e-93; MEOW:AGgn0019781 (57%) |species == Mosquito; gene == LOC23237; score == 333; expect == 5.8e-92; MEOW:AGgn0023237 (59%) |species == Mosquito; gene == LOC23298; score == 307; expect == 3.8e-84; MEOW:AGgn0023298 (54%) |species == Fruitfly; gene == CG6083; score == 301; expect == 4.1e-82; MEOW:FBgn0036183 (49%) |species == Worm; gene == Y39G8B.1a; score == 290; expect == 9.3e-79; MEOW:CEgn0018487 (47%) |species == Fruitfly; gene == CG10863; score == 287; expect == 7.9e-78; MEOW:FBgn0027552 (46%) |species == Worm; gene == Y39G8B.1b; score == 285; expect == 3.0e-77; MEOW:CEgn0018488 (47%) |species == Fruitfly; gene == CG12766; score == 284; expect == 5.2e-77; MEOW:FBgn0035476 (48%) |species == rice; score == 256; expect == 1.1e-68; MEOW:gnl|TIGR|8350.m07058 (45%) |species == Weed; gene == At2g37770; score == 254; expect == 4.3e-68; MEOW:ATgn0008892 (47%) |species == rice; score == 248; expect == 4.3e-66; MEOW:gnl|TIGR|8353.m03362 (48%) |species == Weed; gene == M6PR; score == 246; expect == 1.5e-65; MEOW:ATgn0009960 (45%) |species == Weed; gene == M6PR; score == 244; expect == 5.7e-65; MEOW:ATgn0009959 (45%) |species == Worm; gene == T08H10.1; score == 243; expect == 1.4e-64; MEOW:CEgn0015849 (42%) |species == Weed; gene == At2g37790; score == 229; expect == 1.5e-60; MEOW:ATgn0008894 (46%) |species == Yeast; gene == GRE3; score == 223; expect == 1.5e-58; MEOW:SGgn0001146 (42%) |species == Yeast; gene == GCY1; score == 223; expect == 8.0e-59; MEOW:SGgn0005646 (43%) |species == Weed; gene == At2g37760; score == 221; expect == 3.0e-58; MEOW:ATgn0008891 (40%) |species == Yeast; gene == YPR1; score == 216; expect == 1.3e-56; MEOW:SGgn0002776 (42%) |species == Weed; gene == At3g53880; score == 210; expect == 9.4e-55; MEOW:ATgn0013266 (44%) |species == rice; score == 207; expect == 1.7e-53; MEOW:gnl|TIGR|8351.m00211 (44%) |species == Weed; gene == At1g59950; score == 204; expect == 6.8e-53; MEOW:ATgn0004629 (41%) |species == Yeast; gene == YJR096W; score == 179; expect == 1.2e-45; MEOW:SGgn0003857 (37%) |species == ecoli; score == 159; expect == 1.6e-39; MEOW:ref|NP_417485.1| (36%) |species == ecoli; score == 139; expect == 2.1e-33; MEOW:ref|NP_414743.1| (32%) } # EOR GENR { RETE|ID 1 HUgn0000232 CHR 1 1 DID 1 LocusLink:232 MAP 1 1q32-q42 NAM 1 aldehyde reductase (aldose reductase)-like 1 ORG 1 Homo sapiens SYM 1 ALDRL1 ID|HUgn0000232 DID|LocusLink:232 ORG|Homo sapiens SYM|ALDRL1 NAM|aldehyde reductase (aldose reductase)-like 1 CHR|1 MAP|1q32-q42 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131721 } # EOR GENR { RETE|ID 1 HUgn0000233 CHR 1 9 DID 1 LocusLink:233 MAP 1 9q22 NAM 1 aldehyde reductase (aldose reductase)-like 2 ORG 1 Homo sapiens SYM 1 ALDRL2 ID|HUgn0000233 DID|LocusLink:233 ORG|Homo sapiens SYM|ALDRL2 NAM|aldehyde reductase (aldose reductase)-like 2 CHR|9 MAP|9q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131722 } # EOR GENR { RETE|ID 1 HUgn0000234 CHR 1 11 DID 1 LocusLink:234 MAP 1 11p15-p14 NAM 1 aldehyde reductase (aldose reductase)-like 3 ORG 1 Homo sapiens SYM 1 ALDRL3 ID|HUgn0000234 DID|LocusLink:234 ORG|Homo sapiens SYM|ALDRL3 NAM|aldehyde reductase (aldose reductase)-like 3 CHR|11 MAP|11p15-p14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131723 } # EOR GENR { RETE|ID 1 HUgn0000235 CHR 1 13 DID 1 LocusLink:235 MAP 1 13q14-q21 NAM 1 aldehyde reductase (aldose reductase)-like 4 ORG 1 Homo sapiens SYM 1 ALDRL4 ID|HUgn0000235 DID|LocusLink:235 ORG|Homo sapiens SYM|ALDRL4 NAM|aldehyde reductase (aldose reductase)-like 4 CHR|13 MAP|13q14-q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131724 } # EOR GENR { RETE|ID 1 HUgn0000236 CHR 1 3 DID 1 LocusLink:236 MAP 1 3p12 NAM 1 aldehyde reductase (aldose reductase) pseudogene ORG 1 Homo sapiens SYM 1 ALDRP ID|HUgn0000236 DID|LocusLink:236 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M84454 SYM|ALDRP NAM|aldehyde reductase (aldose reductase) pseudogene CHR|3 MAP|3p12 DBL|SNP:236 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128834 } # EOR GENR { RETE|ID 1 HUgn0000237 CHR 1 12 DID 1 LocusLink:237 MAP 1 12q24.2-q24.3 NAM 1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) ORG 1 Homo sapiens SYM 1 ALFN1 ID|HUgn0000237 DID|LocusLink:237 ORG|Homo sapiens DBA|NA:X15584 |NA:X63773 SYM|ALFN1 NAM|activator of liver function 1 (hepatic phenotype restoration inducing sequence) SYN|HALF1 CHR|12 DBL|OMIM:603416 MAP|12q24.2-q24.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433638 } # EOR GENR { RETE|ID 1 HUgn0000238 CHR 1 2 DID 1 LocusLink:238 MAP 1 2p23 NAM 1 anaplastic lymphoma kinase (Ki-1) ORG 1 Homo sapiens SYM 1 ALK ID|HUgn0000238 DID|LocusLink:238 ORG|Homo sapiens RSQ|REFSEQ:NM_004304 RPA|REFPROT:NP_004295 DBA|XM:NM_004304 |NA:D45915 |NA:U04946 |NA:U62540 |NA:U66559 |NA:none PAC|XP:NP_004295 SYM|ALK NAM|anaplastic lymphoma kinase (Ki-1) FNC|anaplastic lymphoma kinase Ki-1 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 REAB|The 2;5 chromosomal translocation is frequently associated with anaplastic large |cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the |ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half |of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome |5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. |The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine |kinase having a putative transmembrane domain and an extracellular domain. These |sequences are absent in the product of the transforming NPM-ALK gene. ALK shows |the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an |important role in the development of the brain and exerts its effects on specific |neurons in the nervous system. CHR|2 PRD|CD246 antigen |ALK tyrosine kinase receptor precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410680 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=238[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:209935 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004304 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004304 DBL|UNIGENE:Hs.410680 |OMIM:105590 |SNP:238 MAP|2p23 ENZ|transmembrane receptor protein tyrosine kinase activity ; GO:0004714 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Alk; score == 2513; expect == 0.0; MEOW:MGgn0000326 (86%) |species == rat; score == 1787; expect == 0.0; MEOW:ref|XP_233867.2| (82%) |species == Zfish; gene == ltk; score == 874; expect == 0.0; MEOW:ZFgn0013982 (54%) |species == Human; gene == LTK; score == 706; expect == 0.0; MEOW:HUgn0004058 (55%) |species == Mosquito; gene == LOC9228; score == 519; expect == 5e-147; MEOW:AGgn0009228 (33%) |species == Fruitfly; gene == Alk; score == 439; expect == 4e-123; MEOW:FBgn0040505 (35%) |species == Worm; gene == scd-2; score == 273; expect == 5.2e-73; MEOW:CEgn0002514 (41%) |species == chimp; score == 173; expect == 1.1e-44; MEOW:sp|BAC78172|BAC78172 (36%) } # EOR GENR { RETE|ID 1 HUgn0000239 CHR 1 17 DID 1 LocusLink:239 MAP 1 17p13.1 NAM 1 arachidonate 12-lipoxygenase ORG 1 Homo sapiens SYM 1 ALOX12 ID|HUgn0000239 DID|LocusLink:239 ORG|Homo sapiens RSQ|REFSEQ:NM_000697 RPA|REFPROT:NP_000688 DBA|XM:NM_000697 |NA:M87004 |NA:AF143883 |NA:M35418 |NA:M58704 |NA:M62982 |NA:none PAC|XP:NP_000688 SYM|ALOX12 NAM|arachidonate 12-lipoxygenase SYN|LOG12 FNC|arachidonate 12-lipoxygenase |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |leukotriene biosynthesis ; GO:0019370 CHR|17 PRD|12(S)-lipoxygenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1200 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=239[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127547 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000697 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000697 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 DBL|UNIGENE:Hs.1200 |OMIM:152391 |SNP:239 ENZ|EC:1.13.11.31 |arachidonate 12-lipoxygenase activity ; GO:0004052 |lipoxygenase activity ; GO:0016165 |iron ion binding ; GO:0005506 |oxidoreductase activity ; GO:0016491 MAP|17p13.1 HG|species == Mouse; gene == Alox12; score == 1120; expect == 0.0; MEOW:MGgn0000328 (85%) |species == rat; score == 1015; expect == 0.0; MEOW:ref|XP_213369.2| (77%) |species == Human; gene == ALOX15; score == 836; expect == 0.0; MEOW:HUgn0000246 (65%) |species == Weed; gene == At1g67560; score == 178; expect == 1.1e-44; MEOW:ATgn0006282 (30%) |species == rice; score == 169; expect == 4.8e-42; MEOW:gnl|TIGR|8360.m04405 (29%) |species == rice; score == 166; expect == 4.1e-41; MEOW:gnl|TIGR|8360.m04415 (28%) |species == rice; score == 163; expect == 3.4e-40; MEOW:gnl|TIGR|8360.m04728 (26%) |species == Weed; gene == LOX2; score == 158; expect == 1.1e-38; MEOW:ATgn0016868 (28%) |species == Weed; gene == LOX; score == 157; expect == 2.0e-38; MEOW:ATgn0004296 (28%) |species == rice; score == 156; expect == 7.1e-38; MEOW:gnl|TIGR|8360.m04413 (27%) |species == Weed; gene == LOX; score == 153; expect == 4.9e-37; MEOW:ATgn0005820 (28%) |species == rice; score == 150; expect == 4.2e-36; MEOW:gnl|TIGR|8351.m00879 (26%) |species == rice; score == 146; expect == 1.2e-34; MEOW:gnl|TIGR|8352.m03402 (31%) |species == rice; score == 146; expect == 4.6e-35; MEOW:gnl|TIGR|8356.m03861 (28%) |species == rice; score == 142; expect == 1.1e-33; MEOW:gnl|TIGR|8353.m01993 (28%) |species == rice; score == 140; expect == 3.0e-33; MEOW:gnl|TIGR|8356.m03863 (28%) |species == rice; score == 140; expect == 3.8e-33; MEOW:gnl|TIGR|8358.m02833 (26%) |species == rice; score == 138; expect == 1.2e-32; MEOW:gnl|TIGR|8360.m00715 (28%) } # EOR GENR { RETE|ID 1 HUgn0000240 CHR 1 10 DID 1 LocusLink:240 MAP 1 10q11.2 NAM 1 arachidonate 5-lipoxygenase ORG 1 Homo sapiens SYM 1 ALOX5 ID|HUgn0000240 DID|LocusLink:240 ORG|Homo sapiens RSQ|REFSEQ:NM_000698 RPA|REFPROT:NP_000689 DBA|XM:NM_000698 |NA:J03571 |NA:J03600 |NA:none PAC|XP:NP_000689 SYM|ALOX5 NAM|arachidonate 5-lipoxygenase SYN|LOG5 FNC|arachidonate 5-lipoxygenase |electron transport ; GO:0006118 |inflammatory response ; GO:0006954 |leukotriene biosynthesis ; GO:0019370 CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89499 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=240[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132453 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000698 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000698 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA46 DBL|UNIGENE:Hs.89499 |OMIM:152390 |SNP:240 ENZ|EC:1.13.11.34 |arachidonate 5-lipoxygenase activity ; GO:0004051 |lipoxygenase activity ; GO:0016165 |iron ion binding ; GO:0005506 |oxidoreductase activity ; GO:0016491 MAP|10q11.2 HG|species == rat; score == 1249; expect == 0.0; MEOW:ref|NP_036954.1| (92%) |species == Human; gene == ALOX12B; score == 536; expect == 2e-152; MEOW:HUgn0000242 (39%) |species == Human; gene == ALOX15B; score == 528; expect == 4e-150; MEOW:HUgn0000247 (42%) |species == Mouse; gene == Alox12b; score == 526; expect == 2e-149; MEOW:MGgn0000330 (39%) |species == Mouse; gene == Alox15b; score == 524; expect == 8e-149; MEOW:MGgn0000332 (42%) |species == Human; gene == ALOXE3; score == 514; expect == 8e-146; MEOW:HUgn0059344 (38%) |species == Mouse; gene == Aloxe3; score == 506; expect == 2e-143; MEOW:MGgn0000335 (39%) |species == Mouse; gene == Alox12; score == 497; expect == 5e-141; MEOW:MGgn0000328 (41%) |species == Human; gene == ALOX12; score == 491; expect == 7e-139; MEOW:HUgn0000239 (41%) |species == Human; gene == ALOX15; score == 469; expect == 2e-132; MEOW:HUgn0000246 (39%) |species == Mouse; gene == Alox15; score == 465; expect == 2e-131; MEOW:MGgn0000331 (39%) |species == Mouse; gene == Alox12e; score == 451; expect == 5e-127; MEOW:MGgn0000329 (38%) |species == rice; score == 184; expect == 2.0e-46; MEOW:gnl|TIGR|8351.m00879 (28%) |species == rice; score == 179; expect == 4.6e-45; MEOW:gnl|TIGR|8360.m04405 (29%) |species == Weed; gene == LOX; score == 177; expect == 3.1e-44; MEOW:ATgn0014699 (27%) |species == rice; score == 172; expect == 7.5e-43; MEOW:gnl|TIGR|8360.m04415 (28%) |species == Weed; gene == LOX; score == 170; expect == 3.9e-42; MEOW:ATgn0004296 (28%) |species == Weed; gene == LOX2; score == 169; expect == 8.5e-42; MEOW:ATgn0016868 (28%) |species == Weed; gene == LOX; score == 168; expect == 1.5e-41; MEOW:ATgn0005820 (28%) |species == rice; score == 168; expect == 1.1e-41; MEOW:gnl|TIGR|8359.m03532 (29%) |species == rice; score == 168; expect == 1.4e-41; MEOW:gnl|TIGR|8360.m04728 (28%) |species == Weed; gene == At1g67560; score == 167; expect == 1.9e-41; MEOW:ATgn0006282 (29%) |species == rice; score == 163; expect == 4.5e-40; MEOW:gnl|TIGR|8360.m04413 (28%) |species == rice; score == 161; expect == 1.2e-39; MEOW:gnl|TIGR|8358.m02833 (30%) |species == rice; score == 159; expect == 8.9e-39; MEOW:gnl|TIGR|8356.m03861 (28%) |species == rice; score == 158; expect == 1.5e-38; MEOW:gnl|TIGR|8352.m03402 (30%) |species == rice; score == 158; expect == 1.1e-38; MEOW:gnl|TIGR|8356.m03863 (28%) |species == Weed; gene == LOX1; score == 157; expect == 1.9e-38; MEOW:ATgn0000836 (28%) |species == rice; score == 155; expect == 1.2e-37; MEOW:gnl|TIGR|8353.m01993 (31%) |species == rice; score == 153; expect == 2.1e-37; MEOW:gnl|TIGR|8359.m03541 (30%) } # EOR GENR { RETE|ID 1 HUgn0000241 CHR 1 13 DID 1 LocusLink:241 MAP 1 13q12 NAM 1 arachidonate 5-lipoxygenase-activating protein ORG 1 Homo sapiens SYM 1 ALOX5AP ID|HUgn0000241 DID|LocusLink:241 ORG|Homo sapiens RSQ|REFSEQ:NM_001629 RPA|REFPROT:NP_001620 DBA|XM:NM_001629 |NA:M60470 |NA:M63259 |NA:M63260 |NA:M63261 |NA:M63262 |NA:BC018538 |NA:none PAC|XP:NP_001620 SYM|ALOX5AP NAM|arachidonate 5-lipoxygenase-activating protein SYN|FLAP FNC|arachidonate 5-lipoxygenase-activating protein |inflammatory response ; GO:0006954 |leukotriene biosynthesis ; GO:0019370 REAB|This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene |synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated |in various types of inflammatory responses, including asthma, arthritis and psoriasis. |This protein localizes to the plasma membrane. Inhibitors of its function impede |translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit |5-lipoxygenase activation. CHR|13 PRD|MK-886-binding protein |five-lipoxygenase activating protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=100194 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=241[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7178351 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001629 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001629 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=100194 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA47 DBL|UNIGENE:Hs.100194 |OMIM:603700 |SNP:241 MAP|13q12 ENZ|enzyme activator activity ; GO:0008047 |binding ; GO:0005488 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Alox5ap; score == 302; expect == 3.1e-83; MEOW:MGgn0000334 (91%) |species == rat; score == 299; expect == 5.1e-82; MEOW:ref|NP_058956.1| (91%) } # EOR GENR { RETE|ID 1 HUgn0000242 CHR 1 17 DID 1 LocusLink:242 MAP 1 17p13.1 NAM 1 arachidonate 12-lipoxygenase, 12R type ORG 1 Homo sapiens SYM 1 ALOX12B ID|HUgn0000242 DID|LocusLink:242 ORG|Homo sapiens RSQ|REFSEQ:NM_001139 RPA|REFPROT:NP_001130 DBA|XM:NM_001139 |NA:AJ305026 |NA:AJ305027 |NA:AF038461 |NA:AF059250 |NA:BC041058 |NA:none PAC|XP:NP_001130 SYM|ALOX12B NAM|arachidonate 12-lipoxygenase, 12R type FNC|arachidonate 12-lipoxygenase, 12R type |epidermal differentiation ; GO:0008544 |electron transport ; GO:0006118 |lipid metabolism ; GO:0006629 |leukotriene biosynthesis ; GO:0019370 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=136574 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=242[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862758 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001139 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001139 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=136574 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00643 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00629 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00626 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00627 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00623 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00362 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00351 DBL|UNIGENE:Hs.136574 |OMIM:603741 |SNP:242 MAP|17p13.1 ENZ|arachidonate 12-lipoxygenase activity ; GO:0004052 |lipoxygenase activity ; GO:0016165 |iron ion binding ; GO:0005506 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 HG|species == Mouse; gene == Alox12b; score == 1264; expect == 0.0; MEOW:MGgn0000330 (86%) |species == rat; score == 823; expect == 0.0; MEOW:ref|XP_220598.2| (86%) |species == Human; gene == ALOXE3; score == 808; expect == 0.0; MEOW:HUgn0059344 (54%) |species == rat; score == 782; expect == 0.0; MEOW:ref|XP_213336.2| (53%) |species == Human; gene == ALOX15B; score == 695; expect == 0.0; MEOW:HUgn0000247 (48%) |species == rat; score == 686; expect == 0.0; MEOW:ref|NP_695213.1| (48%) |species == rice; score == 183; expect == 5.6e-46; MEOW:gnl|TIGR|8353.m01993 (28%) |species == rice; score == 176; expect == 6.7e-44; MEOW:gnl|TIGR|8360.m04728 (28%) |species == rice; score == 175; expect == 1.5e-43; MEOW:gnl|TIGR|8360.m04405 (28%) |species == rice; score == 171; expect == 3.7e-42; MEOW:gnl|TIGR|8352.m03402 (28%) |species == rice; score == 171; expect == 1.3e-42; MEOW:gnl|TIGR|8360.m04413 (29%) |species == rice; score == 170; expect == 2.8e-42; MEOW:gnl|TIGR|8360.m04415 (28%) |species == Weed; gene == LOX; score == 169; expect == 6.5e-42; MEOW:ATgn0005820 (28%) |species == rice; score == 163; expect == 6.0e-40; MEOW:gnl|TIGR|8358.m02833 (28%) |species == Weed; gene == LOX; score == 162; expect == 7.9e-40; MEOW:ATgn0004296 (27%) |species == Weed; gene == At1g67560; score == 162; expect == 6.0e-40; MEOW:ATgn0006282 (26%) |species == Weed; gene == LOX; score == 162; expect == 6.0e-40; MEOW:ATgn0014699 (27%) |species == rice; score == 162; expect == 1.3e-39; MEOW:gnl|TIGR|8351.m00879 (26%) |species == rice; score == 157; expect == 3.4e-38; MEOW:gnl|TIGR|8359.m03532 (26%) |species == Weed; gene == LOX1; score == 156; expect == 4.3e-38; MEOW:ATgn0000836 (27%) |species == rice; score == 156; expect == 7.3e-38; MEOW:gnl|TIGR|8359.m03541 (27%) |species == Weed; gene == LOX2; score == 154; expect == 1.3e-37; MEOW:ATgn0016868 (26%) } # EOR GENR { RETE|ID 1 HUgn0000243 CHR 1 17 DID 1 LocusLink:243 MAP 1 17 NAM 1 arachidonate 12-lipoxygenase pseudogene 1 ORG 1 Homo sapiens SYM 1 ALOX12P1 ID|HUgn0000243 DID|LocusLink:243 CLA|Pseudogene ORG|Homo sapiens SYM|ALOX12P1 NAM|arachidonate 12-lipoxygenase pseudogene 1 SYN|ALOX12P CHR|17 MAP|17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132452 } # EOR GENR { RETE|ID 1 HUgn0000244 CHR 1 10 DID 1 LocusLink:244 MAP 1 10q11.2 NAM 1 annexin A8 ORG 1 Homo sapiens SYM 1 ANXA8 ID|HUgn0000244 DID|LocusLink:244 ORG|Homo sapiens RSQ|REFSEQ:NM_001630 RPA|REFPROT:NP_001621 DBA|XM:NM_001630 |NA:BC004376 |NA:BC008813 |NA:BC021910 |NA:BC029890 |NA:M81844 |NA:X16662 |NA:none PAC|XP:NP_001621 SYM|ANXA8 NAM|annexin A8 SYN|ANX8 FNC|annexin A8 |oncogenesis ; GO:0007048 REAB|Annexin VIII belong to the family of Ca (2+) dependent phospholipid binding proteins |(annexins), and has a high 56% identity to annexin V (vascular anticoagulant-alpha). | It was initially isolated as 2.2 kb vascular anticoagulant-beta transcript from |human placenta, a Ca (2+) dependent phospholipid binding protein that inhibits coagulation |and phospholipase A2 activity. However, the fact that annexin VIII is neither an |extracellular protein nor associated with the cell surface suggests that it may |not play a role in blood coagulation in vivo and its physiological role remains |unknown. It is expressed at low levels in human placenta and shows restricted expression |in lung endothelia, skin, liver, and kidney. The gene is also found to be selectively |overexpressed in acute myelocytic leukemia. CHR|10 PRD|Annexin VII |annexin VIII URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87268 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=463110 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=244[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128069 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001630 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001630 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=87268 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=463110 DBL|UNIGENE:Hs.87268 |UNIGENE:Hs.463110 |OMIM:602396 |SNP:244 MAP|10q11.2 ENZ|phospholipid binding ; GO:0005543 |calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Anxa8; score == 595; expect == 1e-170; MEOW:MGgn0000400 (92%) |species == rat; score == 565; expect == 2e-161; MEOW:ref|XP_224698.2| (90%) |species == Human; gene == ANXA4; score == 350; expect == 4.5e-97; MEOW:HUgn0000307 (56%) |species == Human; gene == ANXA5; score == 324; expect == 3.5e-89; MEOW:HUgn0000308 (56%) |species == Human; gene == ANXA11; score == 320; expect == 1.2e-87; MEOW:HUgn0000311 (53%) |species == Human; gene == ANXA6; score == 308; expect == 5.0e-84; MEOW:HUgn0000309 (51%) |species == Human; gene == ANXA7; score == 307; expect == 7.1e-84; MEOW:HUgn0000310 (51%) |species == Mosquito; score == 291; expect == 4.2e-79; MEOW:AGgn0029637 (49%) |species == Human; gene == ANXA3; score == 289; expect == 1.6e-78; MEOW:HUgn0000306 (49%) |species == Mosquito; gene == LOC15318; score == 287; expect == 4.7e-78; MEOW:AGgn0015318 (48%) |species == Fruitfly; gene == AnnX; score == 287; expect == 8.0e-78; MEOW:FBgn0000084 (48%) |species == Mosquito; gene == LOC15145; score == 282; expect == 2.6e-76; MEOW:AGgn0015145 (47%) |species == Mosquito; score == 278; expect == 1.3e-75; MEOW:AGgn0025824 (52%) |species == Mosquito; score == 273; expect == 1.2e-73; MEOW:AGgn0027336 (51%) |species == Fruitfly; gene == Anxb11; score == 272; expect == 2.8e-73; MEOW:FBgn0030749 (46%) |species == Mosquito; score == 268; expect == 2.2e-72; MEOW:AGgn0015300 (51%) |species == Worm; gene == nex-2; score == 268; expect == 6.8e-72; MEOW:CEgn0002148 (47%) |species == Mosquito; gene == LOC22779; score == 265; expect == 1.1e-71; MEOW:AGgn0022779 (50%) |species == Fruitfly; gene == AnnIX; score == 265; expect == 1.5e-71; MEOW:FBgn0000083 (49%) |species == Zfish; gene == anxa13; score == 247; expect == 6.9e-66; MEOW:ZFgn0002209 (44%) |species == Worm; gene == nex-1; score == 237; expect == 4.0e-63; MEOW:CEgn0002147 (40%) |species == Weed; gene == At1g68090; score == 195; expect == 3.1e-50; MEOW:ATgn0000148 (35%) |species == rice; score == 177; expect == 1.2e-44; MEOW:gnl|TIGR|8356.m03165 (33%) |species == rice; score == 171; expect == 4.5e-43; MEOW:gnl|TIGR|8357.m01946 (37%) |species == Weed; gene == At5g10220; score == 159; expect == 2.5e-39; MEOW:ATgn0022863 (33%) |species == Weed; gene == At5g10230; score == 159; expect == 1.9e-39; MEOW:ATgn0022864 (33%) |species == rice; score == 146; expect == 3.8e-35; MEOW:gnl|TIGR|8351.m04943 (30%) |species == rice; score == 142; expect == 4.2e-34; MEOW:gnl|TIGR|8354.m01084 (29%) } # EOR GENR { RETE|ID 1 HUgn0000245 CHR 1 17 DID 1 LocusLink:245 MAP 1 17p13 NAM 1 arachidonate 12-lipoxygenase pseudogene 2 ORG 1 Homo sapiens SYM 1 ALOX12P2 ID|HUgn0000245 DID|LocusLink:245 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF020775 |NA:AF020774 |NA:AL832768 SYM|ALOX12P2 NAM|arachidonate 12-lipoxygenase pseudogene 2 SYN|ALOX12E CHR|17 PRD|12-lipoxygenase-related protein |hair and skin epidermal-type 12-lipoxygenase-related pseudogene MAP|17p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834524 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AL832768 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AL832768 } # EOR GENR { RETE|ID 1 HUgn0000246 CHR 1 17 DID 1 LocusLink:246 MAP 1 17p13.3 NAM 1 arachidonate 15-lipoxygenase ORG 1 Homo sapiens SYM 1 ALOX15 ID|HUgn0000246 DID|LocusLink:246 ORG|Homo sapiens RSQ|REFSEQ:NM_001140 RPA|REFPROT:NP_001131 DBA|XM:NM_001140 |NA:U63384 |NA:U88317 |NA:BC029032 |NA:M23892 |NA:M95923 |NA:none PAC|XP:NP_001131 SYM|ALOX15 NAM|arachidonate 15-lipoxygenase FNC|arachidonate 15-lipoxygenase |electron transport ; GO:0006118 |lipid metabolism ; GO:0006629 |inflammatory response ; GO:0006954 |leukotriene biosynthesis ; GO:0019370 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73809 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=246[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132454 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001140 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001140 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73809 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 DBL|UNIGENE:Hs.73809 |OMIM:152392 |SNP:246 ENZ|EC:1.13.11.33 |lipoxygenase activity ; GO:0016165 |iron ion binding ; GO:0005506 |oxidoreductase activity ; GO:0016491 |arachidonate 15-lipoxygenase activity ; GO:0050473 MAP|17p13.3 CEL|plasma membrane ; GO:0005886 HG|species == rat; score == 975; expect == 0.0; MEOW:ref|NP_112272.2| (74%) |species == Mouse; gene == Alox15; score == 969; expect == 0.0; MEOW:MGgn0000331 (73%) |species == rat; score == 900; expect == 0.0; MEOW:ref|XP_220567.2| (68%) |species == Mouse; gene == Alox12e; score == 885; expect == 0.0; MEOW:MGgn0000329 (66%) |species == Human; gene == ALOX12; score == 836; expect == 0.0; MEOW:HUgn0000239 (65%) |species == Mouse; gene == Alox12; score == 826; expect == 0.0; MEOW:MGgn0000328 (63%) |species == Weed; gene == At1g67560; score == 172; expect == 7.8e-43; MEOW:ATgn0006282 (29%) |species == rice; score == 159; expect == 5.0e-39; MEOW:gnl|TIGR|8360.m04415 (26%) |species == rice; score == 158; expect == 1.1e-38; MEOW:gnl|TIGR|8360.m04405 (26%) |species == Weed; gene == LOX2; score == 157; expect == 2.6e-38; MEOW:ATgn0016868 (29%) |species == Weed; gene == LOX; score == 150; expect == 2.9e-36; MEOW:ATgn0005820 (30%) |species == rice; score == 149; expect == 9.4e-36; MEOW:gnl|TIGR|8351.m00879 (25%) |species == rice; score == 149; expect == 8.8e-36; MEOW:gnl|TIGR|8360.m04728 (25%) |species == Weed; gene == LOX; score == 148; expect == 1.2e-35; MEOW:ATgn0004296 (27%) |species == Weed; gene == LOX; score == 144; expect == 1.7e-34; MEOW:ATgn0014699 (26%) |species == rice; score == 144; expect == 3.0e-34; MEOW:gnl|TIGR|8359.m03532 (27%) |species == rice; score == 140; expect == 5.0e-33; MEOW:gnl|TIGR|8352.m03402 (30%) |species == rice; score == 139; expect == 6.9e-33; MEOW:gnl|TIGR|8360.m04413 (24%) |species == rice; score == 134; expect == 1.3e-31; MEOW:gnl|TIGR|8359.m03541 (28%) } # EOR GENR { RETE|ID 1 HUgn0000247 CHR 1 17 DID 1 LocusLink:247 MAP 1 17p13.1 NAM 1 arachidonate 15-lipoxygenase, second type ORG 1 Homo sapiens SYM 1 ALOX15B ID|HUgn0000247 DID|LocusLink:247 ORG|Homo sapiens RSQ|REFSEQ:NM_001141 RPA|REFPROT:NP_001132 DBA|XM:NM_001141 |NA:AJ305028 |NA:AJ305029 |NA:AJ305030 |NA:AJ305031 |NA:AF468051 |NA:AF468052 |NA:AF468053 |NA:AF468054 |NA:BC033294 |NA:BC035217 |NA:U78294 |NA:none PAC|XP:NP_001132 SYM|ALOX15B NAM|arachidonate 15-lipoxygenase, second type FNC|arachidonate 15-lipoxygenase, second type |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |leukotriene biosynthesis ; GO:0019370 REAB|This enzyme is involved in arachidonic acid metabolism in some epithelial tissues. |The protein is similar to human 5S-, 12S-, and 15S-lipoxygenases. This is a second |human 15S lipoxygenase. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=111256 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=247[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862759 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001141 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001141 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=111256 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 DBL|UNIGENE:Hs.111256 |OMIM:603697 |SNP:247 MAP|17p13.1 ENZ|lipoxygenase activity ; GO:0016165 |iron ion binding ; GO:0005506 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 |arachidonate 15-lipoxygenase activity ; GO:0050473 HG|species == Mouse; gene == Alox15b; score == 1076; expect == 0.0; MEOW:MGgn0000332 (77%) |species == rat; score == 1072; expect == 0.0; MEOW:ref|NP_695213.1| (80%) |species == Human; gene == ALOXE3; score == 723; expect == 0.0; MEOW:HUgn0059344 (51%) |species == Human; gene == ALOX12B; score == 695; expect == 0.0; MEOW:HUgn0000242 (48%) |species == rice; score == 180; expect == 3.6e-45; MEOW:gnl|TIGR|8360.m04415 (30%) |species == Weed; gene == LOX; score == 179; expect == 6.2e-45; MEOW:ATgn0014699 (28%) |species == rice; score == 178; expect == 1.3e-44; MEOW:gnl|TIGR|8360.m04413 (30%) |species == Weed; gene == LOX1; score == 176; expect == 5.1e-44; MEOW:ATgn0000836 (31%) |species == rice; score == 175; expect == 1.2e-43; MEOW:gnl|TIGR|8351.m00879 (26%) |species == rice; score == 174; expect == 2.0e-43; MEOW:gnl|TIGR|8352.m03402 (30%) |species == rice; score == 172; expect == 7.3e-43; MEOW:gnl|TIGR|8360.m04405 (28%) |species == Weed; gene == LOX; score == 171; expect == 2.3e-42; MEOW:ATgn0005820 (28%) |species == Weed; gene == At1g67560; score == 168; expect == 1.5e-41; MEOW:ATgn0006282 (29%) |species == rice; score == 167; expect == 1.8e-41; MEOW:gnl|TIGR|8360.m04728 (28%) |species == Weed; gene == LOX; score == 166; expect == 4.3e-41; MEOW:ATgn0004296 (29%) |species == rice; score == 165; expect == 8.9e-41; MEOW:gnl|TIGR|8353.m01993 (30%) |species == Weed; gene == LOX2; score == 160; expect == 3.0e-39; MEOW:ATgn0016868 (27%) |species == rice; score == 160; expect == 2.7e-39; MEOW:gnl|TIGR|8358.m02833 (30%) |species == rice; score == 159; expect == 6.9e-39; MEOW:gnl|TIGR|8359.m03532 (27%) |species == rice; score == 152; expect == 1.3e-36; MEOW:gnl|TIGR|8356.m03863 (26%) |species == rice; score == 152; expect == 3.7e-37; MEOW:gnl|TIGR|8359.m03541 (28%) |species == rice; score == 151; expect == 1.4e-36; MEOW:gnl|TIGR|8356.m03861 (26%) |species == rice; score == 148; expect == 1.2e-35; MEOW:gnl|TIGR|8360.m00715 (31%) } # EOR GENR { RETE|ID 1 HUgn0000248 CHR 1 2 DID 1 LocusLink:248 MAP 1 2q37.1 NAM 1 alkaline phosphatase, intestinal ORG 1 Homo sapiens SYM 1 ALPI ID|HUgn0000248 DID|LocusLink:248 ORG|Homo sapiens RSQ|REFSEQ:NM_001631 RPA|REFPROT:NP_001622 DBA|XM:NM_001631 |NA:J03930 |NA:Y00512 |NA:M15694 |NA:M21499 |NA:M31008 |NA:none PAC|XP:NP_001622 SYM|ALPI NAM|alkaline phosphatase, intestinal SYN|IAP FNC|intestinal alkaline phosphatase precursor REAB|There are at least four distinct but related alkaline phosphatases: intestinal, placental, |placental-like, and liver/bone/kidney (tissue non-specific). The first three are |located together on chromosome 2 while the tissue non-specific form is located on |chromosome 1. The exact physiological function of the alkaline phosphatases is not |known. The product of this gene is a membrane bound glycosylated enzyme that is |localized to fetal and adult intestines although it is closely related to the placental |form of the enzyme. Messages of several sizes have been detected but these do not |differ in the coding region and may be the result of several polyadenylation signals |in the 3' untranslated region. CHR|2 PRD|Kasahara isozyme |glycerophosphatase |alkaline phosphomonoesterase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37009 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=248[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119671 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001631 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.37009 |OMIM:171740 |SNP:248 ENZ|EC:3.1.3.1 MAP|2q37.1 HG|species == Human; gene == ALPPL2; score == 880; expect == 0.0; MEOW:HUgn0000251 (87%) |species == Human; gene == ALPP; score == 863; expect == 0.0; MEOW:HUgn0000250 (86%) |species == rat; score == 809; expect == 0.0; MEOW:ref|NP_073156.2| (78%) |species == rat; score == 802; expect == 0.0; MEOW:ref|NP_073171.1| (79%) |species == Mouse; gene == Akp3; score == 792; expect == 0.0; MEOW:MGgn0000288 (79%) |species == Mouse; gene == Akp5; score == 785; expect == 0.0; MEOW:MGgn0000290 (77%) |species == rat; score == 783; expect == 0.0; MEOW:ref|XP_237353.1| (77%) |species == Mosquito; gene == LOC16054; score == 384; expect == 5e-107; MEOW:AGgn0016054 (44%) |species == Fruitfly; gene == CG8147; score == 367; expect == 7e-102; MEOW:FBgn0043791 (42%) |species == Fruitfly; gene == CG5656; score == 362; expect == 2e-100; MEOW:FBgn0037083 (44%) |species == Mosquito; score == 360; expect == 5e-100; MEOW:AGgn0012212 (44%) |species == Mosquito; score == 352; expect == 1.6e-97; MEOW:AGgn0029133 (42%) |species == Mosquito; score == 349; expect == 1.1e-96; MEOW:AGgn0016308 (41%) |species == Fruitfly; gene == CG10592; score == 349; expect == 1.1e-96; MEOW:FBgn0035619 (42%) |species == Fruitfly; gene == CG3290; score == 346; expect == 1.7e-95; MEOW:FBgn0034711 (41%) |species == Fruitfly; gene == CG3264; score == 346; expect == 1.2e-95; MEOW:FBgn0034712 (41%) |species == Fruitfly; gene == CG5150; score == 343; expect == 1.0e-94; MEOW:FBgn0035620 (41%) |species == Mosquito; score == 340; expect == 1.4e-93; MEOW:AGgn0002165 (41%) |species == Mosquito; gene == LOC4005; score == 340; expect == 1.4e-93; MEOW:AGgn0004005 (41%) |species == Fruitfly; gene == CG10827; score == 340; expect == 1.5e-93; MEOW:FBgn0038845 (41%) |species == Fruitfly; gene == CG3292; score == 339; expect == 1.2e-93; MEOW:FBgn0034710 (39%) |species == Fruitfly; gene == CG1809; score == 335; expect == 2.8e-92; MEOW:FBgn0033423 (43%) |species == Fruitfly; gene == Aph-4; score == 333; expect == 1.6e-91; MEOW:FBgn0016123 (43%) |species == Mosquito; gene == LOC15627; score == 312; expect == 1.4e-85; MEOW:AGgn0015627 (39%) |species == Yeast; gene == PHO8; score == 135; expect == 2.1e-32; MEOW:SGgn0002889 (31%) } # EOR GENR { RETE|ID 1 HUgn0000249 CHR 1 1 DID 1 LocusLink:249 MAP 1 1p36.1-p34 NAM 1 alkaline phosphatase, liver/bone/kidney ORG 1 Homo sapiens SYM 1 ALPL ID|HUgn0000249 DID|LocusLink:249 ORG|Homo sapiens RSQ|REFSEQ:NM_000478 RPA|REFPROT:NP_000469 DBA|XM:NM_000478 |NA:D87874 |NA:D87875 |NA:D87876 |NA:D87877 |NA:D87878 |NA:D87879 |NA:D87880 |NA:D87881 |NA:D87882 |NA:D87883 |NA:D87884 |NA:D87885 |NA:D87886 |NA:D87887 |NA:D87888 |NA:D87889 |NA:M24428 |NA:M24439 |NA:X53750 |NA:AB011406 |NA:AB012643 |NA:BC021289 |NA:X14174 |NA:none PAC|XP:NP_000469 SYM|ALPL NAM|alkaline phosphatase, liver/bone/kidney SYN|HOPS |TNAP |TNSALP |AP-TNAP FNC|tissue non-specific alkaline phosphatase precursor |ossification ; GO:0001503 |metabolism ; GO:0008152 REAB|There are at least four distinct but related alkaline phosphatases: intestinal, placental, |placental-like, and liver/bone/kidney (tissue non-specific). The first three are |located together on chromosome 2 while the tissue non-specific form is located on |chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that |is not expressed in any particular tissue and is, therefore, referred to as the |tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline |phosphatases is not known. A proposed function of this form of the enzyme is matrix |mineralization, however, mice that lack a functional form of this enzyme show normal |skeletal development. This enzyme has been linked directly to a disorder known as |hypophosphatasia, a disorder that is characterized by hypercalcemia and includes |skeletal defects. The character of this disorder can vary, however, depending on |the specific mutation since this determines age of onset and severity of symptoms. CHR|1 PRD|glycerophosphatase |tissue-nonspecific ALP |alkaline phosphomonoesterase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250769 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=249[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118730 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000478 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000478 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=250769 |http://www.geneclinics.org/query?mim=171760 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.250769 |OMIM:171760 |SNP:249 |UWCM:118730.html ENZ|EC:3.1.3.1 |magnesium ion binding ; GO:0000287 |alkaline phosphatase activity ; GO:0004035 |hydrolase activity ; GO:0016787 MAP|1p36.1-p34 PHP|Hypophosphatasia, childhood |Hypophosphatasia, infantile |Odontohypophosphatasia CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Akp2; score == 953; expect == 0.0; MEOW:MGgn0000287 (92%) |species == rat; score == 949; expect == 0.0; MEOW:ref|NP_037191.1| (91%) |species == Human; gene == ALPI; score == 560; expect == 7e-160; MEOW:HUgn0000248 (57%) |species == Human; gene == ALPPL2; score == 553; expect == 9e-158; MEOW:HUgn0000251 (57%) |species == Human; gene == ALPP; score == 542; expect == 2e-154; MEOW:HUgn0000250 (55%) |species == Mosquito; gene == LOC16054; score == 409; expect == 1e-114; MEOW:AGgn0016054 (45%) |species == Mosquito; score == 393; expect == 1e-109; MEOW:AGgn0029133 (45%) |species == Mosquito; score == 392; expect == 1e-109; MEOW:AGgn0012212 (45%) |species == Fruitfly; gene == CG5656; score == 380; expect == 4e-106; MEOW:FBgn0037083 (44%) |species == Mosquito; score == 378; expect == 5e-105; MEOW:AGgn0002165 (44%) |species == Mosquito; gene == LOC4005; score == 378; expect == 5e-105; MEOW:AGgn0004005 (44%) |species == Fruitfly; gene == CG8147; score == 376; expect == 1e-104; MEOW:FBgn0043791 (43%) |species == Fruitfly; gene == CG10827; score == 375; expect == 1e-104; MEOW:FBgn0038845 (43%) |species == Fruitfly; gene == CG10592; score == 364; expect == 3e-101; MEOW:FBgn0035619 (43%) |species == Fruitfly; gene == CG5150; score == 363; expect == 1e-100; MEOW:FBgn0035620 (42%) |species == Fruitfly; gene == CG3264; score == 361; expect == 4e-100; MEOW:FBgn0034712 (41%) |species == Mosquito; gene == LOC15627; score == 360; expect == 6e-100; MEOW:AGgn0015627 (42%) |species == Fruitfly; gene == CG3290; score == 359; expect == 1.4e-99; MEOW:FBgn0034711 (41%) |species == Fruitfly; gene == CG1809; score == 351; expect == 2.9e-97; MEOW:FBgn0033423 (44%) |species == Mosquito; score == 349; expect == 1.4e-96; MEOW:AGgn0016308 (40%) |species == Fruitfly; gene == Aph-4; score == 339; expect == 1.5e-93; MEOW:FBgn0016123 (41%) |species == Fruitfly; gene == CG3292; score == 339; expect == 1.1e-93; MEOW:FBgn0034710 (40%) |species == Fruitfly; gene == CG16771; score == 327; expect == 1.5e-89; MEOW:FBgn0032779 (42%) |species == Yeast; gene == PHO8; score == 143; expect == 2.2e-34; MEOW:SGgn0002889 (32%) |species == ecoli; score == 129; expect == 4.7e-31; MEOW:ref|NP_414917.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0000250 CHR 1 2 DID 1 LocusLink:250 MAP 1 2q37 NAM 1 alkaline phosphatase, placental (Regan isozyme) ORG 1 Homo sapiens SYM 1 ALPP ID|HUgn0000250 DID|LocusLink:250 ORG|Homo sapiens RSQ|REFSEQ:NM_001632 RPA|REFPROT:NP_001623 DBA|XM:NM_001632 |NA:M19159 |NA:M19161 |NA:AK075432 |NA:BC009647 |NA:M12551 |NA:M13077 |NA:M14169 |NA:M14170 |NA:none PAC|XP:NP_001623 SYM|ALPP NAM|alkaline phosphatase, placental (Regan isozyme) SYN|ALP |PLAP FNC|placental alkaline phosphatase precursor REAB|There are at least four distinct but related alkaline phosphatases: intestinal, placental, |placental-like, and liver/bone/kidney (tissue non-specific). The first three are |located together on chromosome 2 while the tissue non-specific form is located on |chromosome 1. The exact physiological function of the alkaline phosphatases is not |known. The product of this gene is a membrane bound glycosylated enzyme, also referred |to as the heat stable form, that is expressed primarily in the placenta although |it is closely related to the intestinal form of the enzyme as well as to the placental-like |form. The coding sequence for this form of alkaline phosphatase is unique in that |the 3' untranslated region contains multiple copies of an Alu family repeat. In |addition, this gene is polymorphic and three common alleles (type 1, type 2 and |type 3) for this form of alkaline phosphatase have been well characterized. CHR|2 PRD|glycerophosphatase |alkaline phosphomonoesterase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284255 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001632 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001632 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=284255 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.284255 |OMIM:171800 |SNP:250 ENZ|EC:3.1.3.1 MAP|2q37 CEL|peripheral plasma membrane protein ; GO:0000157 HG|species == Human; gene == ALPPL2; score == 972; expect == 0.0; MEOW:HUgn0000251 (97%) |species == Human; gene == ALPI; score == 863; expect == 0.0; MEOW:HUgn0000248 (86%) |species == rat; score == 765; expect == 0.0; MEOW:ref|NP_073156.2| (75%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_073171.1| (76%) |species == Mouse; gene == Akp5; score == 746; expect == 0.0; MEOW:MGgn0000290 (76%) |species == rat; score == 741; expect == 0.0; MEOW:ref|XP_237353.1| (76%) |species == Mouse; gene == Akp3; score == 720; expect == 0.0; MEOW:MGgn0000288 (75%) |species == Mosquito; gene == LOC16054; score == 376; expect == 8e-105; MEOW:AGgn0016054 (44%) |species == Fruitfly; gene == CG5656; score == 372; expect == 4e-103; MEOW:FBgn0037083 (45%) |species == Fruitfly; gene == CG10592; score == 359; expect == 3.1e-99; MEOW:FBgn0035619 (43%) |species == Mosquito; score == 356; expect == 1.4e-98; MEOW:AGgn0029133 (43%) |species == Fruitfly; gene == CG8147; score == 356; expect == 2.1e-98; MEOW:FBgn0043791 (42%) |species == Fruitfly; gene == CG3264; score == 354; expect == 7.8e-98; MEOW:FBgn0034712 (42%) |species == Fruitfly; gene == CG3290; score == 348; expect == 4.3e-96; MEOW:FBgn0034711 (42%) |species == Fruitfly; gene == CG10827; score == 347; expect == 9.3e-96; MEOW:FBgn0038845 (42%) |species == Fruitfly; gene == CG5150; score == 344; expect == 6.0e-95; MEOW:FBgn0035620 (42%) |species == Fruitfly; gene == CG1809; score == 343; expect == 1.7e-94; MEOW:FBgn0033423 (43%) |species == Mosquito; score == 340; expect == 6.6e-94; MEOW:AGgn0016308 (41%) |species == Mosquito; score == 336; expect == 1.2e-92; MEOW:AGgn0012212 (42%) |species == Mosquito; score == 333; expect == 1.7e-91; MEOW:AGgn0002165 (40%) |species == Mosquito; gene == LOC4005; score == 333; expect == 1.7e-91; MEOW:AGgn0004005 (40%) |species == Fruitfly; gene == Aph-4; score == 332; expect == 3.6e-91; MEOW:FBgn0016123 (43%) |species == Fruitfly; gene == CG3292; score == 328; expect == 2.7e-90; MEOW:FBgn0034710 (40%) |species == Mosquito; gene == LOC15627; score == 301; expect == 3.4e-82; MEOW:AGgn0015627 (37%) |species == ecoli; score == 140; expect == 2.1e-34; MEOW:ref|NP_414917.1| (28%) |species == Yeast; gene == PHO8; score == 139; expect == 4.2e-33; MEOW:SGgn0002889 (31%) } # EOR GENR { RETE|ID 1 HUgn0000251 CHR 1 2 DID 1 LocusLink:251 MAP 1 2q37 NAM 1 alkaline phosphatase, placental-like 2 ORG 1 Homo sapiens SYM 1 ALPPL2 ID|HUgn0000251 DID|LocusLink:251 ORG|Homo sapiens RSQ|REFSEQ:NM_031313 RPA|REFPROT:NP_112603 DBA|XM:NM_031313 |NA:J03252 |NA:M19160 |NA:X07247 |NA:AB012642 |NA:BC014139 |NA:J04948 |NA:X53279 |NA:X55958 |NA:none PAC|XP:NP_112603 SYM|ALPPL2 NAM|alkaline phosphatase, placental-like 2 SYN|ALPG |GCAP |ALPPL FNC|placental-like alkaline phosphatase preproprotein |metabolism ; GO:0008152 |phosphorylation ; GO:0016310 REAB|There are at least four distinct but related alkaline phosphatases: intestinal, placental, |placental-like, and liver/bone/kidney (tissue non-specific). The first three are |located together on chromosome 2 while the tissue non-specific form is located on |chromosome 1. The exact physiological function of the alkaline phosphatases is not |known. The product of this gene is a membrane bound glycosylated enzyme, localized |to testis, thymus and certain germ cell tumors, that is closely related to both |the placental and intestinal forms of alkaline phosphatase. CHR|2 PRD|Nagao isozyme |germ cell alkaline phosphatase |testicular and thymus alkaline phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333509 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=251[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119673 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031313 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031313 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=333509 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.333509 |OMIM:171810 |SNP:251 ENZ|EC:3.1.3.1 |magnesium ion binding ; GO:0000287 |alkaline phosphatase activity ; GO:0004035 |hydrolase activity ; GO:0016787 MAP|2q37 CEL|integral to membrane ; GO:0016021 HG|species == Human; gene == ALPP; score == 972; expect == 0.0; MEOW:HUgn0000250 (97%) |species == Human; gene == ALPI; score == 880; expect == 0.0; MEOW:HUgn0000248 (87%) |species == Mouse; gene == Akp5; score == 778; expect == 0.0; MEOW:MGgn0000290 (76%) |species == rat; score == 774; expect == 0.0; MEOW:ref|NP_073156.2| (75%) |species == rat; score == 771; expect == 0.0; MEOW:ref|NP_073171.1| (77%) |species == rat; score == 768; expect == 0.0; MEOW:ref|XP_237353.1| (76%) |species == Mouse; gene == Akp3; score == 761; expect == 0.0; MEOW:MGgn0000288 (77%) |species == Mosquito; gene == LOC16054; score == 379; expect == 1e-105; MEOW:AGgn0016054 (44%) |species == Fruitfly; gene == CG5656; score == 373; expect == 1e-103; MEOW:FBgn0037083 (45%) |species == Fruitfly; gene == CG8147; score == 365; expect == 5e-101; MEOW:FBgn0043791 (42%) |species == Fruitfly; gene == CG3264; score == 362; expect == 2e-100; MEOW:FBgn0034712 (42%) |species == Fruitfly; gene == CG3290; score == 359; expect == 1.9e-99; MEOW:FBgn0034711 (42%) |species == Fruitfly; gene == CG10592; score == 359; expect == 3.1e-99; MEOW:FBgn0035619 (42%) |species == Mosquito; score == 355; expect == 1.5e-98; MEOW:AGgn0029133 (43%) |species == Fruitfly; gene == CG10827; score == 352; expect == 2.3e-97; MEOW:FBgn0038845 (43%) |species == Mosquito; score == 351; expect == 2.8e-97; MEOW:AGgn0012212 (43%) |species == Fruitfly; gene == CG3292; score == 347; expect == 4.3e-96; MEOW:FBgn0034710 (41%) |species == Fruitfly; gene == CG1809; score == 344; expect == 1.0e-94; MEOW:FBgn0033423 (43%) |species == Fruitfly; gene == CG5150; score == 344; expect == 4.7e-95; MEOW:FBgn0035620 (42%) |species == Mosquito; score == 337; expect == 4.2e-93; MEOW:AGgn0016308 (40%) |species == Fruitfly; gene == Aph-4; score == 335; expect == 1.7e-92; MEOW:FBgn0016123 (44%) |species == Mosquito; score == 333; expect == 1.0e-91; MEOW:AGgn0002165 (40%) |species == Mosquito; gene == LOC4005; score == 333; expect == 1.0e-91; MEOW:AGgn0004005 (40%) |species == Mosquito; gene == LOC15627; score == 319; expect == 1.6e-87; MEOW:AGgn0015627 (39%) |species == Yeast; gene == PHO8; score == 145; expect == 1.5e-35; MEOW:SGgn0002889 (32%) |species == ecoli; score == 144; expect == 1.9e-35; MEOW:ref|NP_414917.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000253 CHR 1 18 DID 1 LocusLink:253 MAP 1 18q21 NAM 1 amyotrophic lateral sclerosis 3 (autosomal dominant) ORG 1 Homo sapiens SYM 1 ALS3 ID|HUgn0000253 DID|LocusLink:253 ORG|Homo sapiens SYM|ALS3 NAM|amyotrophic lateral sclerosis 3 (autosomal dominant) SYN|ALS6 CHR|18 DBL|OMIM:606640 MAP|18q21 PHP|Amyotrophic lateral sclerosis URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:249142 } # EOR GENR { RETE|ID 1 HUgn0000254 CHR 1 9 DID 1 LocusLink:254 MAP 1 9q34 NAM 1 amyotrophic lateral sclerosis 4 ORG 1 Homo sapiens SYM 1 ALS4 ID|HUgn0000254 DID|LocusLink:254 ORG|Homo sapiens SYM|ALS4 NAM|amyotrophic lateral sclerosis 4 CHR|9 DBL|OMIM:602433 MAP|9q34 PHP|Amyotrophic lateral sclerosis-4, juvenile dominant URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:4204599 } # EOR GENR { RETE|ID 1 HUgn0000255 CHR 1 15 DID 1 LocusLink:255 MAP 1 15q15.1-q21.1 NAM 1 amyotrophic lateral sclerosis 5 ORG 1 Homo sapiens SYM 1 ALS5 ID|HUgn0000255 DID|LocusLink:255 ORG|Homo sapiens SYM|ALS5 NAM|amyotrophic lateral sclerosis 5 CHR|15 DBL|OMIM:602099 MAP|15q15.1-q21.1 PHP|Amytrophic lateral sclerosis-5, juvenile recessive URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6242611 } # EOR GENR { RETE|ID 1 HUgn0000257 CHR 1 1 DID 1 LocusLink:257 MAP 1 1p21-p13 NAM 1 aristaless-like homeobox 3 ORG 1 Homo sapiens SYM 1 ALX3 ID|HUgn0000257 DID|LocusLink:257 ORG|Homo sapiens RSQ|REFSEQ:NM_006492 RPA|REFPROT:NP_006483 DBA|XM:NM_006492 |NA:AF008203 |NA:none PAC|XP:NP_006483 SYM|ALX3 NAM|aristaless-like homeobox 3 FNC|aristaless-like homeobox 3 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=204039 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=257[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835929 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006492 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006492 DBL|UNIGENE:Hs.204039 |OMIM:606014 |SNP:257 MAP|1p21-p13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Alx3; score == 538; expect == 1e-153; MEOW:MGgn0000339 (91%) |species == rat; score == 268; expect == 4.3e-72; MEOW:ref|XP_345271.1| (85%) |species == Human; gene == CART1; score == 207; expect == 8.2e-54; MEOW:HUgn0008092 (52%) |species == Human; gene == ALX4; score == 177; expect == 7.2e-45; MEOW:HUgn0060529 (47%) } # EOR GENR { RETE|ID 1 HUgn0000258 CHR 1 4 DID 1 LocusLink:258 MAP 1 4q21 NAM 1 ameloblastin, enamel matrix protein ORG 1 Homo sapiens SYM 1 AMBN ID|HUgn0000258 DID|LocusLink:258 ORG|Homo sapiens RSQ|REFSEQ:NM_016519 RPA|REFPROT:NP_057603 DBA|XM:NM_016519 |NA:AF209780 |NA:AF219994 |NA:AF263464 |NA:AJ537437 |NA:none PAC|XP:NP_057603 SYM|AMBN NAM|ameloblastin, enamel matrix protein FNC|ameloblastin |bone mineralization ; GO:0030282 REAB|Ameloblastin is thought to represent an unique ameloblast-specific gene product that |may be important in enamel matrix formation and mineralization. The gene is located |on chromosome 4 near other genes associated with mineralized tissues: osteopontin, |bone sialoprotein, and bone morphogenetic protein 3. Based on its cytogenetic location, |this gene is a candidate gene for one form of the disorder, dentinogenesis imperfecta, |and/or the disorder, autosomal dominant amylogenesis imperfecta. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272396 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=258[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5560456 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016519 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016519 DBL|UNIGENE:Hs.272396 |OMIM:601259 |SNP:258 MAP|4q21 CEL|extracellular matrix ; GO:0005578 ENZ|structural constituent of tooth enamel ; GO:0030345 HG|species == rat; score == 437; expect == 7e-123; MEOW:ref|NP_037032.1| (60%) |species == Mouse; gene == Ambn; score == 429; expect == 1e-120; MEOW:MGgn0000343 (58%) } # EOR GENR { RETE|ID 1 HUgn0000259 CHR 1 9 DID 1 LocusLink:259 MAP 1 9q32-q33 NAM 1 alpha-1-microglobulin/bikunin precursor ORG 1 Homo sapiens SYM 1 AMBP ID|HUgn0000259 DID|LocusLink:259 ORG|Homo sapiens RSQ|REFSEQ:NM_001633 RPA|REFPROT:NP_001624 DBA|XM:NM_001633 |NA:M88249 |NA:X54816 |NA:X54817 |NA:X54818 |NA:BC041593 |NA:M11562 |NA:X04225 |NA:X04494 |NA:none PAC|XP:NP_001624 SYM|AMBP NAM|alpha-1-microglobulin/bikunin precursor SYN|HCP |ITI |UTI |ITIL FNC|alpha-1-microglobulin/bikunin precursor |transport ; GO:0006810 CHR|9 PRD|Alpha-1-microglobulin/bikunin precursor; inter-alpha-trypsin |Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76177 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=259[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120696 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001633 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001633 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76177 DBL|UNIGENE:Hs.76177 |OMIM:176870 |SNP:259 MAP|9q32-q33 ENZ|serine protease inhibitor activity ; GO:0004867 |binding ; GO:0005488 |transporter activity ; GO:0005215 HG|species == Mouse; gene == Ambp; score == 550; expect == 3e-157; MEOW:MGgn0000344 (77%) |species == rat; score == 549; expect == 1e-156; MEOW:ref|NP_037033.1| (77%) } # EOR GENR { RETE|ID 1 HUgn0000260 CHR 1 9 DID 1 LocusLink:260 MAP 1 9p21-q21 NAM 1 arthrogryposis multiplex congenital, distal, type 1 ORG 1 Homo sapiens SYM 1 AMCD1 ID|HUgn0000260 DID|LocusLink:260 ORG|Homo sapiens SYM|AMCD1 NAM|arthrogryposis multiplex congenital, distal, type 1 SYN|DA1 CHR|9 DBL|OMIM:108120 MAP|9p21-q21 PHP|Arthrogryposis multiplex congenita, distal, type 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:437519 |http://www.geneclinics.org/query?mim=108120 } # EOR GENR { RETE|ID 1 HUgn0000261 CHR 1 5 DID 1 LocusLink:261 MAP 1 5q35 NAM 1 arthrogryposis multiplex congenita, neurogenic ORG 1 Homo sapiens SYM 1 AMCN ID|HUgn0000261 DID|LocusLink:261 ORG|Homo sapiens SYM|AMCN NAM|arthrogryposis multiplex congenita, neurogenic SYN|AMC |AMC1 |AMCN1 CHR|5 PRD|Arthrogryposis multiplex congenital, neurogenic DBL|OMIM:208100 MAP|5q35 PHP|Arthrogryposis multiplex congenita, neurogenic URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836823 |http://www.geneclinics.org/query?mim=208100 } # EOR GENR { RETE|ID 1 HUgn0000262 CHR 1 6 DID 1 LocusLink:262 MAP 1 6q21-q22 NAM 1 adenosylmethionine decarboxylase 1 ORG 1 Homo sapiens SYM 1 AMD1 ID|HUgn0000262 DID|LocusLink:262 ORG|Homo sapiens RSQ|REFSEQ:NM_001634 RPA|REFPROT:NP_001625 DBA|XM:NM_001634 |NA:M88003 |NA:M88004 |NA:M88005 |NA:M88006 |NA:S47803 |NA:BC000171 |NA:BC041345 |NA:BX640599 |NA:M21154 |NA:none PAC|XP:NP_001625 SYM|AMD1 NAM|adenosylmethionine decarboxylase 1 SYN|AMD |ADOMETDC FNC|S-adenosylmethionine decarboxylase 1 precursor |spermine biosynthesis ; GO:0006597 |spermidine biosynthesis ; GO:0008295 REAB|The product of this gene is an important intermediate enzyme in polyamine biosynthesis. |The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic |amines essential for cellular proliferation and tumor promotion. This gene spans |22 kb comprised of 9 exons and 8 introns and encoding two species of mRNA of 2.1 |and 3.4-3.6 kb originating from the use of two different polyadenylation signals. |The pro-protein is an approximate 38.3 kDa which is known to undergo processing |at amino acid 68 to yield two fragments of 32- and 6-kDa. CHR|6 PRD|S-adenosylmethionine decarboxylase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159118 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=262[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119674 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001634 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001634 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159118 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24763 DBL|UNIGENE:Hs.159118 |OMIM:180980 |SNP:262 ENZ|EC:4.1.1.50 |adenosylmethionine decarboxylase activity ; GO:0004014 |lyase activity ; GO:0016829 MAP|6q21-q22 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Amd1; score == 643; expect == 0.0; MEOW:MGgn0000347 (97%) |species == Mouse; gene == Amd2; score == 640; expect == 0.0; MEOW:MGgn0000348 (97%) |species == rat; score == 639; expect == 0.0; MEOW:ref|NP_112273.2| (97%) |species == Mosquito; score == 329; expect == 1.5e-90; MEOW:AGgn0020888 (49%) |species == Fruitfly; gene == SamDC; score == 320; expect == 9.5e-88; MEOW:FBgn0019932 (48%) |species == Weed; gene == At3g25570; score == 177; expect == 5.9e-45; MEOW:ATgn0017099 (37%) |species == Weed; gene == At5g15950; score == 168; expect == 3.7e-42; MEOW:ATgn0021922 (37%) |species == Yeast; gene == SPE2; score == 164; expect == 1.8e-41; MEOW:SGgn0005412 (30%) |species == rice; score == 162; expect == 2.7e-40; MEOW:gnl|TIGR|8352.m03863 (38%) |species == rice; score == 159; expect == 2.5e-39; MEOW:gnl|TIGR|8357.m02188 (39%) |species == Weed; gene == At3g02470; score == 156; expect == 2.5e-38; MEOW:ATgn0012971 (37%) |species == rice; score == 155; expect == 7.3e-38; MEOW:gnl|TIGR|8351.m03761 (38%) |species == Weed; gene == At5g18930; score == 149; expect == 1.7e-36; MEOW:ATgn0024515 (30%) } # EOR GENR { RETE|ID 1 HUgn0000263 CHR 1 X DID 1 LocusLink:263 MAP 1 Xq22-q28 NAM 1 S-adenosylmethionine decarboxylase pseudogene 1 ORG 1 Homo sapiens SYM 1 AMDP1 ID|HUgn0000263 DID|LocusLink:263 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U02035 SYM|AMDP1 NAM|S-adenosylmethionine decarboxylase pseudogene 1 SYN|AMD |AMD2 CHR|X PRD|S-adenosylmethionine decarboxylase 2 |S-adenosylmethionine decarboxylase 2 (pseudogene) MAP|Xq22-q28 DBL|SNP:263 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120743 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 } # EOR GENR { RETE|ID 1 HUgn0000264 CHR 1 9 DID 1 LocusLink:264 MAP 1 9p13-q12 NAM 1 acromesomelic dysplasia, Maroteaux type ORG 1 Homo sapiens SYM 1 AMDM ID|HUgn0000264 DID|LocusLink:264 ORG|Homo sapiens SYM|AMDM NAM|acromesomelic dysplasia, Maroteaux type CHR|9 DBL|OMIM:602875 MAP|9p13-q12 PHP|Acromesomelic dysplasia, Maroteaux type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862243 |http://www.geneclinics.org/query?mim=602875 } # EOR GENR { RETE|ID 1 HUgn0000265 CHR 1 X DID 1 LocusLink:265 MAP 1 Xp22.31-p22.1 NAM 1 amelogenin (amelogenesis imperfecta 1, X-linked) ORG 1 Homo sapiens SYM 1 AMELX ID|HUgn0000265 DID|LocusLink:265 ORG|Homo sapiens RSQ|REFSEQ:NM_001142 |REFSEQ:NM_182680 |REFSEQ:NM_182681 RPA|REFPROT:NP_001133 |REFPROT:NP_872621 |REFPROT:NP_872622 DBA|XM:NM_001142 |NA:AC002366 |NA:M55418 |NA:X14440 |NA:AF436849 |NA:M86932 |NA:S67147 |NA:none PAC|XP:NP_001133 SYM|AMELX NAM|amelogenin (amelogenesis imperfecta 1, X-linked) SYN|AMG |AIH1 |ALGN |AMGL |AMGX FNC|amelogenin (X chromosome) isoform 1 precursor |amelogenin (X chromosome) isoform 2 precursor |amelogenin (X chromosome) isoform 3 precursor |development ; GO:0007275 |bone mineralization ; GO:0030282 |odontogenesis ; GO:0042476 REAB|This gene encodes a member of the amelogenin family of extracellular matrix proteins. |Amelogenins are involved in biomineralization during tooth enamel development. Mutations |in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results |in multiple transcript variants encoding different isoforms. CHR|X PRD|amelogenin (X chromosome, amelogenesis imperfecta 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=46329 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119675 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182680 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182680 DBL|UNIGENE:Hs.46329 |OMIM:300391 |SNP:265 |UWCM:119675.html MAP|Xp22.31-p22.1 PHP|Amelogenesis imperfecta ENZ|extracellular matrix structural constituent ; GO:0005201 |structural constituent of tooth enamel ; GO:0030345 CEL|extracellular matrix ; GO:0005578 |extracellular space ; GO:0005615 HG|species == Human; gene == AMELY; score == 195; expect == 1.4e-50; MEOW:HUgn0000266 (89%) |species == chimp; score == 181; expect == 3.1e-46; MEOW:sp|Q861X8|Q861X8 (80%) |species == chimp; score == 151; expect == 2.5e-37; MEOW:sp|Q861X9|Q861X9 (83%) } # EOR GENR { RETE|ID 1 HUgn0000266 CHR 1 Y DID 1 LocusLink:266 MAP 1 Yp11.2 NAM 1 amelogenin, Y-linked ORG 1 Homo sapiens SYM 1 AMELY ID|HUgn0000266 DID|LocusLink:266 ORG|Homo sapiens RSQ|REFSEQ:NM_001143 RPA|REFPROT:NP_001134 DBA|XM:NM_001143 |NA:M55419 |NA:X14439 |NA:M86933 |NA:none PAC|XP:NP_001134 SYM|AMELY NAM|amelogenin, Y-linked SYN|AMGL |AMGY FNC|amelogenin (Y chromosome) precursor |development ; GO:0007275 |bone mineralization ; GO:0030282 |odontogenesis ; GO:0042476 REAB|This gene encodes a member of the amelogenin family of extracellular matrix proteins. |Amelogenins are involved in biomineralization during tooth enamel development. Mutations |in a related gene on chromosome X cause X-linked amelogenesis imperfecta. CHR|Y URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1238 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=266[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119676 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001143 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001143 |http://www.geneclinics.org/query?mim=410000 DBL|UNIGENE:Hs.1238 |OMIM:410000 |SNP:266 MAP|Yp11.2 ENZ|extracellular matrix structural constituent ; GO:0005201 |structural constituent of tooth enamel ; GO:0030345 CEL|extracellular matrix ; GO:0005578 HG|species == chimp; score == 205; expect == 2.4e-55; MEOW:sp|Q861X8|Q861X8 (87%) |species == Human; gene == AMELX; score == 195; expect == 1.4e-50; MEOW:HUgn0000265 (89%) |species == Mouse; gene == Amelx; score == 191; expect == 1.8e-49; MEOW:MGgn0000349 (84%) |species == chimp; score == 185; expect == 2.5e-49; MEOW:sp|Q861X9|Q861X9 (79%) |species == rat; score == 181; expect == 2.2e-46; MEOW:ref|NP_062027.1| (75%) } # EOR GENR { RETE|ID 1 HUgn0000267 CHR 1 16 DID 1 LocusLink:267 MAP 1 16q21 NAM 1 autocrine motility factor receptor ORG 1 Homo sapiens SYM 1 AMFR ID|HUgn0000267 DID|LocusLink:267 ORG|Homo sapiens RSQ|REFSEQ:NM_001144 |REFSEQ:NM_138958 RPA|REFPROT:NP_001135 |REFPROT:NP_620408 DBA|XM:NM_001144 |XM:NM_138958 |NA:AF124145 |NA:AK023874 |NA:BC056869 |NA:L35233 |NA:M63175 |NA:W60999 |NA:none PAC|XP:NP_001135 |XP:NP_620408 SYM|AMFR NAM|autocrine motility factor receptor SYN|GP78 |RNF45 FNC|autocrine motility factor receptor isoform a |autocrine motility factor receptor isoform b |cell motility ; GO:0006928 |signal transduction ; GO:0007165 REAB|Autocrine motility factor is a tumor motility-stimulating protein secreted by tumor |cells. The protein encoded by this gene is a glycosylated transmembrane protein |and a receptor for autocrine motility factor. The receptor, which shows some sequence |similarity to tumor protein p53, is localized to the leading and trailing edges |of carcinoma cells. Two transcript variants encoding different isoforms have been |found for this gene. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=295137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=267[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001144 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001144 DBL|UNIGENE:Hs.295137 |OMIM:603243 |SNP:267 MAP|16q21 ENZ|receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Amfr; score == 1199; expect == 0.0; MEOW:MGgn0000350 (94%) |species == rat; score == 1082; expect == 0.0; MEOW:ref|XP_341645.1| (86%) |species == Mosquito; score == 451; expect == 3e-127; MEOW:AGgn0010918 (52%) |species == Weed; gene == At1g65040; score == 159; expect == 6.0e-39; MEOW:ATgn0003468 (28%) |species == rice; score == 148; expect == 1.8e-35; MEOW:gnl|TIGR|8354.m01814 (29%) |species == Weed; gene == At3g16090; score == 144; expect == 1.5e-34; MEOW:ATgn0014212 (28%) |species == Weed; gene == At4g25230; score == 132; expect == 7.9e-31; MEOW:ATgn0019755 (27%) } # EOR GENR { RETE|ID 1 HUgn0000268 CHR 1 19 DID 1 LocusLink:268 MAP 1 19p13.3 NAM 1 anti-Mullerian hormone ORG 1 Homo sapiens SYM 1 AMH ID|HUgn0000268 DID|LocusLink:268 ORG|Homo sapiens RSQ|REFSEQ:NM_000479 RPA|REFPROT:NP_000470 DBA|XM:NM_000479 |NA:AC005263 |NA:K03474 |NA:BC033218 |NA:BC049194 |NA:none PAC|XP:NP_000470 SYM|AMH NAM|anti-Mullerian hormone SYN|MIF |MIS FNC|anti-Mullerian hormone |sex determination ; GO:0007530 |cell-cell signaling ; GO:0007267 |gonadal mesoderm development ; GO:0007506 REAB|Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family |which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression |of Mullerian ducts which would otherwise differentiate into the uterus and fallopian |tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian |duct syndrome. CHR|19 PRD|Mullerian inhibiting factor |Mullerian inhibiting substance URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112432 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=268[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118996 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000479 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000479 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.figgrp.21+OR+arev.section.18 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=112432 DBL|UNIGENE:Hs.112432 |OMIM:600957 |SNP:268 MAP|19p13.3 PHP|Persistent Mullerian duct syndrome, type I ENZ|glycopeptide hormone ; GO:0005181 |growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 637; expect == 0.0; MEOW:ref|NP_037034.1| (72%) |species == Mouse; gene == Amh; score == 617; expect == 7e-177; MEOW:MGgn0000351 (72%) } # EOR GENR { RETE|ID 1 HUgn0000269 CHR 1 12 DID 1 LocusLink:269 MAP 1 12q13 NAM 1 anti-Mullerian hormone receptor, type II ORG 1 Homo sapiens SYM 1 AMHR2 ID|HUgn0000269 DID|LocusLink:269 ORG|Homo sapiens RSQ|REFSEQ:NM_020547 RPA|REFPROT:NP_065434 DBA|XM:NM_020547 |NA:U29700 |NA:X89013 |NA:X91156 |NA:X91157 |NA:X91158 |NA:X91159 |NA:X91160 |NA:X91161 |NA:X91162 |NA:X91163 |NA:X91164 |NA:X91165 |NA:X91166 |NA:AF172932 |NA:none PAC|XP:NP_065434 SYM|AMHR2 NAM|anti-Mullerian hormone receptor, type II SYN|AMHR FNC|anti-Mullerian hormone receptor, type II |sex determination ; GO:0007530 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437877 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=269[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696210 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020547 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020547 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.437877 |OMIM:600956 |SNP:269 MAP|12q13 PHP|Persistent Mullerian duct syndrome, type II ENZ|ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Amhr2; score == 794; expect == 0.0; MEOW:MGgn0000360 (78%) |species == rat; score == 751; expect == 0.0; MEOW:ref|NP_112260.1| (77%) |species == Human; gene == BMPR2; score == 262; expect == 4.4e-70; MEOW:HUgn0000659 (34%) |species == Mosquito; gene == LOC17662; score == 227; expect == 1.1e-59; MEOW:AGgn0017662 (32%) |species == Fruitfly; gene == wit; score == 215; expect == 8.0e-56; MEOW:FBgn0024179 (31%) |species == Zfish; gene == acvr2b; score == 171; expect == 6.8e-44; MEOW:ZFgn0000184 (34%) |species == Zfish; gene == alk8; score == 157; expect == 1.0e-39; MEOW:ZFgn0000465 (33%) |species == Zfish; gene == tarama; score == 151; expect == 5.6e-38; MEOW:ZFgn0000178 (33%) |species == Zfish; gene == bmpr1b; score == 151; expect == 4.3e-38; MEOW:ZFgn0000672 (34%) |species == Zfish; gene == bmpr1a; score == 147; expect == 1.1e-36; MEOW:ZFgn0000900 (32%) |species == Zfish; gene == acvrl1; score == 142; expect == 3.4e-35; MEOW:ZFgn0002643 (31%) } # EOR GENR { RETE|ID 1 HUgn0000270 CHR 1 1 DID 1 LocusLink:270 MAP 1 1p13 NAM 1 adenosine monophosphate deaminase 1 (isoform M) ORG 1 Homo sapiens SYM 1 AMPD1 ID|HUgn0000270 DID|LocusLink:270 ORG|Homo sapiens RSQ|REFSEQ:NM_000036 RPA|REFPROT:NP_000027 DBA|XM:NM_000036 |NA:M37931 |NA:AK097077 |NA:BC056678 |NA:M60092 |NA:none PAC|XP:NP_000027 SYM|AMPD1 NAM|adenosine monophosphate deaminase 1 (isoform M) SYN|MADA FNC|adenosine monophosphate deaminase 1 (isoform M) |adenylate deaminase reaction ; GO:0006197 |nucleotide metabolism ; GO:0009117 |purine ribonucleoside monophosphate biosynthesis ; GO:0009168 REAB|Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal |muscle and plays an important role in the purine nucleotide cycle. Two other genes |have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, |respectively. Deficiency of the muscle-specific enzyme is apparently a common cause |of exercise-induced myopathy and probably the most common cause of metabolic myopathy |in the human. CHR|1 PRD|Adenosine monophosphate deaminase-1 (muscle) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89570 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=270[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119677 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000036 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000036 |http://www.geneclinics.org/query?mim=102770 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.89570 |OMIM:102770 |SNP:270 ENZ|EC:3.5.4.6 |AMP deaminase activity ; GO:0003876 |hydrolase activity ; GO:0016787 MAP|1p13 PHP|Myoadenylate deaminase deficiency HG|species == rat; score == 1403; expect == 0.0; MEOW:ref|NP_620231.1| (92%) |species == Human; gene == AMPD3; score == 907; expect == 0.0; MEOW:HUgn0000272 (60%) |species == Mouse; gene == Ampd3; score == 741; expect == 0.0; MEOW:MGgn0000363 (58%) |species == Human; gene == AMPD2; score == 728; expect == 0.0; MEOW:HUgn0000271 (55%) |species == Mouse; gene == Ampd2; score == 725; expect == 0.0; MEOW:MGgn0000362 (55%) |species == Mosquito; gene == LOC17310; score == 678; expect == 0.0; MEOW:AGgn0017310 (54%) |species == Mosquito; gene == LOC23647; score == 678; expect == 0.0; MEOW:AGgn0023647 (54%) |species == Fruitfly; gene == CG32626; score == 666; expect == 0.0; MEOW:FBgn0052626 (53%) |species == Worm; gene == C34F11.3a; score == 657; expect == 0.0; MEOW:CEgn0027810 (48%) |species == Worm; gene == C34F11.3b; score == 652; expect == 0.0; MEOW:CEgn0027811 (47%) |species == rice; score == 563; expect == 3e-160; MEOW:gnl|TIGR|8355.m04721 (47%) |species == Weed; gene == At2g38280; score == 546; expect == 2e-155; MEOW:ATgn0008989 (50%) |species == Yeast; gene == AMD1; score == 531; expect == 2e-151; MEOW:SGgn0004498 (51%) } # EOR GENR { RETE|ID 1 HUgn0000271 CHR 1 1 DID 1 LocusLink:271 MAP 1 1p13.3 NAM 1 adenosine monophosphate deaminase 2 (isoform L) ORG 1 Homo sapiens SYM 1 AMPD2 ID|HUgn0000271 DID|LocusLink:271 ORG|Homo sapiens RSQ|REFSEQ:NM_004037 |REFSEQ:NM_139156 RPA|REFPROT:NP_004028 |REFPROT:NP_631895 DBA|XM:NM_004037 |NA:M91029 |NA:U16269 |NA:U16272 |NA:AK025706 |NA:BC007711 |NA:BC030217 |NA:S47833 |NA:U16267 |NA:U16268 |NA:U16270 |NA:none PAC|XP:NP_004028 SYM|AMPD2 NAM|adenosine monophosphate deaminase 2 (isoform L) FNC|adenosine monophosphate deaminase 2 (isoform L) |purine nucleotide metabolism ; GO:0006163 |purine ribonucleoside monophosphate biosynthesis ; GO:0009168 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82927 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=271[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118753 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004037 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004037 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82927 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.82927 |OMIM:102771 |SNP:271 ENZ|EC:3.5.4.6 |AMP deaminase activity ; GO:0003876 |hydrolase activity ; GO:0016787 MAP|1p13.3 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Ampd2; score == 1548; expect == 0.0; MEOW:MGgn0000362 (97%) |species == rat; score == 870; expect == 0.0; MEOW:ref|XP_342314.1| (98%) |species == Fruitfly; gene == CG32626; score == 855; expect == 0.0; MEOW:FBgn0052626 (63%) |species == Mosquito; gene == LOC17310; score == 845; expect == 0.0; MEOW:AGgn0017310 (64%) |species == Mosquito; gene == LOC23647; score == 845; expect == 0.0; MEOW:AGgn0023647 (64%) |species == Human; gene == AMPD3; score == 773; expect == 0.0; MEOW:HUgn0000272 (51%) |species == rat; score == 773; expect == 0.0; MEOW:ref|NP_113732.1| (50%) |species == Worm; gene == C34F11.3a; score == 755; expect == 0.0; MEOW:CEgn0027810 (53%) |species == Worm; gene == C34F11.3b; score == 754; expect == 0.0; MEOW:CEgn0027811 (57%) |species == rat; score == 735; expect == 0.0; MEOW:ref|NP_620231.1| (55%) |species == Human; gene == AMPD1; score == 728; expect == 0.0; MEOW:HUgn0000270 (55%) |species == rice; score == 671; expect == 0.0; MEOW:gnl|TIGR|8355.m04721 (52%) |species == Yeast; gene == AMD1; score == 666; expect == 0.0; MEOW:SGgn0004498 (52%) |species == Weed; gene == At2g38280; score == 648; expect == 0.0; MEOW:ATgn0008989 (51%) } # EOR GENR { RETE|ID 1 HUgn0000272 CHR 1 11 DID 1 LocusLink:272 MAP 1 11p15 NAM 1 adenosine monophosphate deaminase (isoform E) ORG 1 Homo sapiens SYM 1 AMPD3 ID|HUgn0000272 DID|LocusLink:272 ORG|Homo sapiens RSQ|REFSEQ:NM_000480 RPA|REFPROT:NP_000471 DBA|XM:NM_000480 |NA:U29926 |NA:D12775 |NA:M84721 |NA:M84722 |NA:none PAC|XP:NP_000471 SYM|AMPD3 NAM|adenosine monophosphate deaminase (isoform E) FNC|adenosine monophosphate deaminase (isoform E) |AMP catabolism ; GO:0006196 |nucleotide metabolism ; GO:0009117 |purine ribonucleoside monophosphate biosynthesis ; GO:0009168 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83918 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=272[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136013 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000480 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000480 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.83918 |OMIM:102772 |SNP:272 |UWCM:136013.html ENZ|EC:3.5.4.6 |AMP deaminase activity ; GO:0003876 |hydrolase activity ; GO:0016787 MAP|11p15 PHP|AMP deaminase deficiency, erythrocytic HG|species == rat; score == 1436; expect == 0.0; MEOW:ref|NP_113732.1| (92%) |species == Mouse; gene == Ampd3; score == 1194; expect == 0.0; MEOW:MGgn0000363 (93%) |species == Human; gene == AMPD1; score == 907; expect == 0.0; MEOW:HUgn0000270 (60%) |species == Human; gene == AMPD2; score == 773; expect == 0.0; MEOW:HUgn0000271 (51%) |species == Mosquito; gene == LOC17310; score == 706; expect == 0.0; MEOW:AGgn0017310 (56%) |species == Mosquito; gene == LOC23647; score == 706; expect == 0.0; MEOW:AGgn0023647 (56%) |species == Worm; gene == C34F11.3a; score == 694; expect == 0.0; MEOW:CEgn0027810 (53%) |species == Worm; gene == C34F11.3b; score == 694; expect == 0.0; MEOW:CEgn0027811 (53%) |species == Fruitfly; gene == CG32626; score == 694; expect == 0.0; MEOW:FBgn0052626 (55%) |species == rice; score == 590; expect == 2e-168; MEOW:gnl|TIGR|8355.m04721 (50%) |species == Weed; gene == At2g38280; score == 588; expect == 5e-168; MEOW:ATgn0008989 (49%) |species == Yeast; gene == AMD1; score == 578; expect == 8e-166; MEOW:SGgn0004498 (51%) } # EOR GENR { RETE|ID 1 HUgn0000273 CHR 1 7 DID 1 LocusLink:273 MAP 1 7p14-p13 NAM 1 amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) ORG 1 Homo sapiens SYM 1 AMPH ID|HUgn0000273 DID|LocusLink:273 ORG|Homo sapiens RSQ|REFSEQ:NM_001635 |REFSEQ:NM_139316 RPA|REFPROT:NP_001626 |REFPROT:NP_647477 DBA|XM:NM_001635 |XM:NM_139316 |XM:NM_001635 |XM:NM_139316 |NA:AF034996 |NA:AF498092 |NA:AF498093 |NA:AF498094 |NA:AF498095 |NA:AF498096 |NA:AF498097 |NA:BC034376 |NA:U07616 |NA:X81438 |NA:none PAC|XP:NP_001626 |XP:NP_647477 |XP:NP_001626 |XP:NP_647477 SYM|AMPH NAM|amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) SYN|AMPH1 FNC|amphiphysin isoform 1 |amphiphysin isoform 2 |endocytosis ; GO:0006897 |synaptic transmission ; GO:0007268 REAB|This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. |A subset of patients with stiff-man syndrome who were also affected by breast cancer |are positive for autoantibodies against this protein. Alternate splicing of this |gene results in two transcript variants encoding different isoforms. Additional |splice variants have been described, but their full length sequences have not been |determined. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=173034 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=273[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386990 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001635 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001635 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.752+OR+arev.section.736+OR+arev.section.768 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=173034 DBL|UNIGENE:Hs.173034 |OMIM:600418 |SNP:273 MAP|7p14-p13 CEL|synaptic vesicle ; GO:0008021 |peripheral plasma membrane protein ; GO:0000157 |actin cytoskeleton ; GO:0015629 HG|species == rat; score == 1035; expect == 0.0; MEOW:ref|NP_071553.1| (86%) |species == Mouse; gene == Amph; score == 495; expect == 1e-140; MEOW:MGgn0000364 (99%) |species == Mouse; gene == Bin1; score == 417; expect == 1e-116; MEOW:MGgn0013612 (55%) |species == Human; gene == BIN1; score == 335; expect == 5.1e-92; MEOW:HUgn0000274 (64%) |species == Human; gene == BIN2; score == 278; expect == 5.7e-75; MEOW:HUgn0051411 (34%) |species == Fruitfly; gene == Amph; score == 201; expect == 1.3e-51; MEOW:FBgn0027356 (38%) |species == Worm; gene == F58G6.1; score == 160; expect == 1.8e-39; MEOW:CEgn0012405 (32%) |species == Mosquito; score == 149; expect == 1.2e-36; MEOW:AGgn0003419 (47%) } # EOR GENR { RETE|ID 1 HUgn0000274 CHR 1 2 DID 1 LocusLink:274 MAP 1 2q14 NAM 1 bridging integrator 1 ORG 1 Homo sapiens SYM 1 BIN1 ID|HUgn0000274 DID|LocusLink:274 ORG|Homo sapiens RSQ|REFSEQ:NM_004305 |REFSEQ:NM_139343 |REFSEQ:NM_139344 |REFSEQ:NM_139345 |REFSEQ:NM_139346 |REFSEQ:NM_139347 |REFSEQ:NM_139348 |REFSEQ:NM_139349 |REFSEQ:NM_139350 |REFSEQ:NM_139351 RPA|REFPROT:NP_004296 |REFPROT:NP_647593 |REFPROT:NP_647594 |REFPROT:NP_647595 |REFPROT:NP_647596 |REFPROT:NP_647597 |REFPROT:NP_647598 |REFPROT:NP_647599 |REFPROT:NP_647600 |REFPROT:NP_647601 DBA|XM:NM_004305 |XM:NM_139343 |XM:NM_139344 |XM:NM_139345 |XM:NM_139346 |XM:NM_139347 |XM:NM_139348 |XM:NM_139349 |XM:NM_139350 |XM:NM_139351 |NA:U83999 |NA:U84004 |NA:AF001383 |NA:AF004015 |NA:AF043898 |NA:AF043899 |NA:AF043900 |NA:AF043901 |NA:AF068914 |NA:AF068915 |NA:AF068916 |NA:AF068917 |NA:AF068918 |NA:AF070576 |NA:AL713697 |NA:BC004101 |NA:BT006865 |NA:U68485 |NA:U87558 |NA:none PAC|XP:NP_004296 |XP:NP_647593 |XP:NP_647594 |XP:NP_647595 |XP:NP_647596 |XP:NP_647597 |XP:NP_647598 |XP:NP_647599 |XP:NP_647600 |XP:NP_647601 SYM|BIN1 NAM|bridging integrator 1 SYN|AMPH2 |AMPHL |SH3P9 |MGC10367 |DKFZp547F068 FNC|bridging integrator 1 isoform 1 |bridging integrator 1 isoform 10 |bridging integrator 1 isoform 2 |bridging integrator 1 isoform 3 |bridging integrator 1 isoform 4 |bridging integrator 1 isoform 5 |bridging integrator 1 isoform 6 |bridging integrator 1 isoform 7 |bridging integrator 1 isoform 8 |bridging integrator 1 isoform 9 |synaptic vesicle endocytosis ; GO:0008099 |nonselective vesicle transport ; GO:0006899 |synaptic transmission ; GO:0007268 |cell proliferation ; GO:0008283 |cell differentiation ; GO:0030154 |negative regulation of cell cycle ; GO:0045786 REAB|This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of |which was initially identified as a MYC-interacting protein with features of a tumor |suppressor. Isoforms that are expressed in the central nervous system may be involved |in synaptic vesicle endocytosis and may interact with dynanim, synaptojanin, endophilin, |and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms |localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic |process. Studies in mouse suggest that this gene plays an important role in cardiac |muscle development. Alternate splicing of the gene results in ten transcript variants |encoding different isoforms. Aberrant splice variants expressed in tumor cell lines |have also been described. CHR|2 PRD|amphiphysin II |amphiphysin-like |box dependant MYC interacting protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=193163 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=274[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9015269 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_139343 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_139343 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=193163 DBL|UNIGENE:Hs.193163 |OMIM:601248 |SNP:274 MAP|2q14 CEL|actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Bin1; score == 543; expect == 1e-154; MEOW:MGgn0013612 (76%) |species == Human; gene == AMPH; score == 335; expect == 5.1e-92; MEOW:HUgn0000273 (64%) |species == rat; score == 334; expect == 1.5e-91; MEOW:ref|NP_071553.1| (64%) |species == Fruitfly; gene == Amph; score == 203; expect == 3.4e-52; MEOW:FBgn0027356 (41%) |species == Worm; gene == F58G6.1; score == 181; expect == 6.7e-46; MEOW:CEgn0012405 (30%) |species == Mosquito; score == 147; expect == 2.8e-36; MEOW:AGgn0003419 (49%) } # EOR GENR { RETE|ID 1 HUgn0000275 CHR 1 3 DID 1 LocusLink:275 MAP 1 3p21.2-p21.1 NAM 1 aminomethyltransferase (glycine cleavage system protein T) ORG 1 Homo sapiens SYM 1 AMT ID|HUgn0000275 DID|LocusLink:275 ORG|Homo sapiens RSQ|REFSEQ:NM_000481 RPA|REFPROT:NP_000472 DBA|XM:NM_000481 |NA:D14686 |NA:AK091738 |NA:AK096062 |NA:BC007546 |NA:BC044792 |NA:D13811 |NA:none PAC|XP:NP_000472 SYM|AMT NAM|aminomethyltransferase (glycine cleavage system protein T) SYN|GCE |NKH |GCST FNC|aminomethyltransferase (glycine cleavage system protein T) |glycine catabolism ; GO:0006546 REAB|The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), |which is confined to the mitochondria, is composed of 4 protein components: P protein |(a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a |lipoic acid-containing protein; MIM 238330), T protein (a tetrahydrofolate-requiring |enzyme), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy |(GCE; MIM 605899) may be due to a defect in any one of these enzymes.[supplied by |OMIM] CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=102 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=275[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132138 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000481 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000481 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=102 |http://www.geneclinics.org/query?mim=238310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00670 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.102 |OMIM:238310 |SNP:275 ENZ|EC:2.1.2.10 |aminomethyltransferase activity ; GO:0004047 |transaminase activity ; GO:0008483 |transferase activity ; GO:0016740 MAP|3p21.2-p21.1 PHP|Glycine encephalopathy CEL|glycine cleavage complex ; GO:0005960 |mitochondrion ; GO:0005739 HG|species == rat; score == 609; expect == 7e-175; MEOW:ref|XP_225766.2| (81%) |species == Worm; gene == F25B4.1; score == 378; expect == 2e-105; MEOW:CEgn0009220 (53%) |species == Mosquito; score == 371; expect == 2e-103; MEOW:AGgn0012075 (52%) |species == Weed; gene == At1g11860; score == 369; expect == 2e-102; MEOW:ATgn0006994 (49%) |species == rice; score == 365; expect == 5e-101; MEOW:gnl|TIGR|8352.m04945 (52%) |species == Fruitfly; gene == CG6415; score == 297; expect == 4.7e-81; MEOW:FBgn0032287 (51%) |species == Yeast; gene == GCV1; score == 256; expect == 1.6e-68; MEOW:SGgn0002426 (41%) |species == ecoli; score == 157; expect == 6.6e-39; MEOW:ref|NP_417381.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0000276 CHR 1 1 DID 1 LocusLink:276 MAP 1 1p21 NAM 1 amylase, alpha 1A; salivary ORG 1 Homo sapiens SYM 1 AMY1A ID|HUgn0000276 DID|LocusLink:276 ORG|Homo sapiens RSQ|REFSEQ:NM_004038 RPA|REFPROT:NP_004029 DBA|XM:NM_004038 |NA:M18715 |NA:M18786 |NA:none PAC|XP:NP_004029 SYM|AMY1A NAM|amylase, alpha 1A; salivary SYN|AMY1 FNC|amylase, alpha 1A; salivary |carbohydrate metabolism ; GO:0005975 |digestion ; GO:0007586 CHR|1 PRD|Amylase, salivary, alpha-1A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274376 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120544 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004038 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004038 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.274376 |OMIM:104700 |SNP:276 ENZ|EC:3.2.1.1 |alpha-amylase activity ; GO:0004556 |calcium ion binding ; GO:0005509 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 MAP|1p21 HG|species == Human; gene == AMY2B; score == 1069; expect == 0.0; MEOW:HUgn0000280 (97%) |species == Human; gene == AMY2A; score == 1065; expect == 0.0; MEOW:HUgn0000279 (96%) |species == Mouse; gene == Amy1; score == 948; expect == 0.0; MEOW:MGgn0000368 (83%) |species == Mouse; gene == Amy2; score == 939; expect == 0.0; MEOW:MGgn0000369 (83%) |species == rat; score == 935; expect == 0.0; MEOW:ref|NP_113690.1| (83%) |species == Fruitfly; gene == Amy-p; score == 548; expect == 1e-156; MEOW:FBgn0000079 (54%) |species == Fruitfly; gene == Amy-d; score == 547; expect == 3e-156; MEOW:FBgn0000078 (54%) |species == Mosquito; score == 530; expect == 6e-151; MEOW:AGgn0020664 (53%) |species == Mosquito; gene == LOC20659; score == 528; expect == 2e-150; MEOW:AGgn0020659 (53%) |species == Mosquito; score == 469; expect == 1e-132; MEOW:AGgn0028431 (48%) |species == Fruitfly; gene == Amyrel; score == 463; expect == 1e-130; MEOW:FBgn0020506 (48%) |species == Worm; gene == C50B6.7; score == 415; expect == 2e-116; MEOW:CEgn0006826 (45%) } # EOR GENR { RETE|ID 1 HUgn0000277 CHR 1 1 DID 1 LocusLink:277 MAP 1 1p21 NAM 1 amylase, alpha 1B; salivary ORG 1 Homo sapiens SYM 1 AMY1B ID|HUgn0000277 DID|LocusLink:277 ORG|Homo sapiens SYM|AMY1B NAM|amylase, alpha 1B; salivary SYN|AMY1 CHR|1 PRD|Amylase, salivary, alpha-1B DBL|OMIM:104701 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120545 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 } # EOR GENR { RETE|ID 1 HUgn0000278 CHR 1 1 DID 1 LocusLink:278 MAP 1 1p21 NAM 1 amylase, alpha 1C; salivary ORG 1 Homo sapiens SYM 1 AMY1C ID|HUgn0000278 DID|LocusLink:278 ORG|Homo sapiens SYM|AMY1C NAM|amylase, alpha 1C; salivary SYN|AMY1 CHR|1 PRD|Amylase, salivary, alpha-1C DBL|OMIM:104702 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120546 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 } # EOR GENR { RETE|ID 1 HUgn0000279 CHR 1 1 DID 1 LocusLink:279 MAP 1 1p21 NAM 1 amylase, alpha 2A; pancreatic ORG 1 Homo sapiens SYM 1 AMY2A ID|HUgn0000279 DID|LocusLink:279 ORG|Homo sapiens RSQ|REFSEQ:NM_000699 RPA|REFPROT:NP_000690 DBA|XM:NM_000699 |NA:M18785 |NA:BC007060 |NA:M28443 |NA:none PAC|XP:NP_000690 SYM|AMY2A NAM|amylase, alpha 2A; pancreatic SYN|AMY2 FNC|amylase, alpha 2A; pancreatic |carbohydrate metabolism ; GO:0005975 CHR|1 PRD|Amylase, pancreatic, alpha-2A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300280 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=279[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120547 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000699 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000699 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=300280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.300280 |OMIM:104650 |SNP:279 ENZ|EC:3.2.1.1 |alpha-amylase activity ; GO:0004556 |calcium ion binding ; GO:0005509 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 MAP|1p21 CEL|extracellular space ; GO:0005615 HG|species == Human; gene == AMY2B; score == 1084; expect == 0.0; MEOW:HUgn0000280 (98%) |species == Human; gene == AMY1A; score == 1065; expect == 0.0; MEOW:HUgn0000276 (96%) |species == Mouse; gene == Amy1; score == 956; expect == 0.0; MEOW:MGgn0000368 (84%) |species == Mouse; gene == Amy2; score == 952; expect == 0.0; MEOW:MGgn0000369 (84%) |species == rat; score == 945; expect == 0.0; MEOW:ref|NP_113690.1| (84%) |species == Fruitfly; gene == Amy-p; score == 549; expect == 9e-157; MEOW:FBgn0000079 (53%) |species == Fruitfly; gene == Amy-d; score == 548; expect == 2e-156; MEOW:FBgn0000078 (53%) |species == Mosquito; score == 524; expect == 3e-149; MEOW:AGgn0020664 (53%) |species == Mosquito; gene == LOC20659; score == 523; expect == 7e-149; MEOW:AGgn0020659 (53%) |species == Mosquito; score == 468; expect == 2e-132; MEOW:AGgn0028431 (48%) |species == Fruitfly; gene == Amyrel; score == 464; expect == 3e-131; MEOW:FBgn0020506 (48%) |species == Mosquito; score == 421; expect == 4e-118; MEOW:AGgn0013052 (47%) |species == Worm; gene == C50B6.7; score == 415; expect == 2e-116; MEOW:CEgn0006826 (45%) } # EOR GENR { RETE|ID 1 HUgn0000280 CHR 1 1 DID 1 LocusLink:280 MAP 1 1p21 NAM 1 amylase, alpha 2B; pancreatic ORG 1 Homo sapiens SYM 1 AMY2B ID|HUgn0000280 DID|LocusLink:280 ORG|Homo sapiens RSQ|REFSEQ:NM_020978 RPA|REFPROT:NP_066188 DBA|XM:NM_020978 |NA:D90088 |NA:D90089 |NA:D90090 |NA:D90091 |NA:D90092 |NA:D90093 |NA:D90094 |NA:D90095 |NA:D90096 |NA:D90097 |NA:D90098 |NA:D90099 |NA:AK095605 |NA:AK127047 |NA:AL832291 |NA:BC010697 |NA:BC011179 |NA:BC020861 |NA:M24895 |NA:none PAC|XP:NP_066188 SYM|AMY2B NAM|amylase, alpha 2B; pancreatic SYN|AMY2 FNC|amylase, alpha 2B; pancreatic CHR|1 PRD|Amylase, pancreatic, alpha-2B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=288166 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=280[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120548 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020978 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020978 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=288166 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.288166 |OMIM:104660 |SNP:280 ENZ|EC:3.2.1.1 MAP|1p21 HG|species == Human; gene == AMY2A; score == 1084; expect == 0.0; MEOW:HUgn0000279 (98%) |species == Human; gene == AMY1A; score == 1069; expect == 0.0; MEOW:HUgn0000276 (97%) |species == Mouse; gene == Amy1; score == 954; expect == 0.0; MEOW:MGgn0000368 (84%) |species == Mouse; gene == Amy2; score == 946; expect == 0.0; MEOW:MGgn0000369 (84%) |species == rat; score == 939; expect == 0.0; MEOW:ref|NP_113690.1| (84%) |species == Fruitfly; gene == Amy-p; score == 549; expect == 7e-157; MEOW:FBgn0000079 (53%) |species == Fruitfly; gene == Amy-d; score == 548; expect == 2e-156; MEOW:FBgn0000078 (53%) |species == Mosquito; gene == LOC20659; score == 526; expect == 6e-150; MEOW:AGgn0020659 (53%) |species == Mosquito; score == 526; expect == 8e-150; MEOW:AGgn0020664 (53%) |species == Mosquito; score == 473; expect == 1e-133; MEOW:AGgn0028431 (48%) |species == Fruitfly; gene == Amyrel; score == 469; expect == 1e-132; MEOW:FBgn0020506 (48%) |species == Mosquito; score == 422; expect == 1e-118; MEOW:AGgn0013052 (48%) |species == Worm; gene == C50B6.7; score == 420; expect == 8e-118; MEOW:CEgn0006826 (45%) } # EOR GENR { RETE|ID 1 HUgn0000281 CHR 1 1 DID 1 LocusLink:281 MAP 1 1p21 NAM 1 amylase, alpha pseudogene 1 ORG 1 Homo sapiens SYM 1 AMYP1 ID|HUgn0000281 DID|LocusLink:281 CLA|Pseudogene ORG|Homo sapiens SYM|AMYP1 NAM|amylase, alpha pseudogene 1 SYN|AMY2P CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120549 } # EOR GENR { RETE|ID 1 HUgn0000282 CHR 1 15 DID 1 LocusLink:282 MAP 1 15q11-q12 NAM 1 Angelman syndrome chromosome region ORG 1 Homo sapiens SYM 1 ANCR ID|HUgn0000282 DID|LocusLink:282 ORG|Homo sapiens SYM|ANCR NAM|Angelman syndrome chromosome region CHR|15 DBL|OMIM:105830 MAP|15q11-q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119678 |http://www.geneclinics.org/query?mim=105830 |http://www.ncbi.nlm.nih.gov/disease/angelman.html } # EOR GENR { RETE|ID 1 HUgn0000283 CHR 1 14 DID 1 LocusLink:283 MAP 1 14q11.1-q11.2 NAM 1 angiogenin, ribonuclease, RNase A family, 5 ORG 1 Homo sapiens SYM 1 ANG ID|HUgn0000283 DID|LocusLink:283 ORG|Homo sapiens RSQ|REFSEQ:NM_001145 RPA|REFPROT:NP_001136 DBA|XM:NM_001145 |NA:M11567 |NA:BC054880 |NA:none PAC|XP:NP_001136 SYM|ANG NAM|angiogenin, ribonuclease, RNase A family, 5 SYN|RNASE5 FNC|angiogenin, ribonuclease, RNase A family, 5 precursor |RNA catabolism ; GO:0006401 |angiogenesis ; GO:0001525 REAB|Angiogenin is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes |cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic |ribonuclease (RNS1) CHR|14 PRD|Angiogenin DBL|OMIM:105850 |SNP:283 ENZ|EC:3.1.27.- |pancreatic ribonuclease activity ; GO:0004522 |nucleic acid binding ; GO:0003676 |endonuclease activity ; GO:0004519 |hydrolase activity ; GO:0016787 |protein biosynthesis inhibitor activity ; GO:0017149 MAP|14q11.1-q11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119679 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001145 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001145 HG|species == chimp; score == 277; expect == 1.7e-75; MEOW:sp|Q8WME8|ANGI_PANTR (99%) |species == Mouse; gene == Ang; score == 213; expect == 1.6e-56; MEOW:MGgn0000374 (78%) |species == Mouse; gene == Angrp; score == 183; expect == 1.7e-47; MEOW:MGgn0000378 (69%) |species == Mouse; gene == Angl; score == 179; expect == 3.5e-46; MEOW:MGgn0000377 (66%) |species == Mouse; gene == Ang4; score == 179; expect == 2.5e-46; MEOW:MGgn0042106 (67%) |species == rat; score == 173; expect == 2.6e-44; MEOW:ref|XP_223968.1| (73%) } # EOR GENR { RETE|ID 1 HUgn0000284 CHR 1 8 DID 1 LocusLink:284 MAP 1 8q22.3-q23 NAM 1 angiopoietin 1 ORG 1 Homo sapiens SYM 1 ANGPT1 ID|HUgn0000284 DID|LocusLink:284 ORG|Homo sapiens RSQ|REFSEQ:NM_001146 |REFSEQ:NM_139290 RPA|REFPROT:NP_001137 |REFPROT:NP_647451 DBA|XM:NM_001146 |XM:NM_139290 |NA:AB084454 |NA:AL700429 |NA:AW069541 |NA:AY121504 |NA:AY124380 |NA:BC029406 |NA:BX648814 |NA:D13628 |NA:U83508 |NA:none PAC|XP:NP_001137 |XP:NP_647451 SYM|ANGPT1 NAM|angiopoietin 1 SYN|AGP1 |AGPT |ANG1 |KIAA0003 FNC|angiopoietin 1 isoform a |angiopoietin 1 isoform b |signal transduction ; GO:0007165 |angiogenesis ; GO:0001525 REAB|Angiopoietins are proteins with important roles in vascular development and angiogenesis. |All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein |kinase receptor. The protein encoded by this gene is a secreted glycoprotein that |activates the receptor by inducing its tyrosine phosphorylation. It plays a critical |role in mediating reciprocal interactions between the endothelium and surrounding |matrix and mesenchyme. The protein also contributes to blood vessel maturation and |stability, and may be involved in early development of the heart. Two transcript |variants encoding different isoforms have been found for this gene. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=284[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045057 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001146 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001146 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2463 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0003 DBL|UNIGENE:Hs.2463 |OMIM:601667 |SNP:284 MAP|8q22.3-q23 ENZ|receptor binding ; GO:0005102 HG|species == Mouse; gene == Agpt; score == 979; expect == 0.0; MEOW:MGgn0000239 (97%) |species == rat; score == 969; expect == 0.0; MEOW:ref|XP_346798.1| (97%) |species == Zfish; gene == angpt1; score == 683; expect == 0.0; MEOW:ZFgn0002319 (65%) |species == Human; gene == ANGPT2; score == 610; expect == 6e-175; MEOW:HUgn0000285 (62%) |species == Mosquito; score == 168; expect == 3.1e-42; MEOW:AGgn0002335 (43%) |species == Mosquito; gene == LOC11248; score == 168; expect == 3.7e-42; MEOW:AGgn0011248 (32%) |species == Mosquito; score == 164; expect == 7.7e-41; MEOW:AGgn0021318 (42%) |species == Mosquito; score == 162; expect == 1.7e-40; MEOW:AGgn0020316 (45%) |species == Mosquito; gene == LOC11478; score == 161; expect == 1.7e-39; MEOW:AGgn0011478 (36%) |species == Mosquito; gene == LOC20281; score == 159; expect == 1.5e-39; MEOW:AGgn0020281 (45%) |species == Mosquito; score == 159; expect == 1.5e-39; MEOW:AGgn0027566 (41%) |species == Mosquito; gene == LOC10235; score == 157; expect == 7.2e-39; MEOW:AGgn0010235 (41%) |species == Mosquito; gene == LOC15680; score == 157; expect == 9.5e-39; MEOW:AGgn0015680 (44%) |species == Mosquito; gene == LOC25169; score == 152; expect == 3.0e-37; MEOW:AGgn0025169 (40%) |species == Mosquito; score == 151; expect == 4.7e-37; MEOW:AGgn0015683 (34%) |species == Mosquito; score == 149; expect == 8.2e-37; MEOW:AGgn0019563 (42%) |species == Fruitfly; gene == CG30280; score == 144; expect == 6.6e-35; MEOW:FBgn0050280 (39%) |species == Fruitfly; gene == CG30281; score == 144; expect == 6.6e-35; MEOW:FBgn0050281 (39%) |species == Mosquito; score == 139; expect == 2.3e-33; MEOW:AGgn0020282 (32%) |species == Mosquito; score == 139; expect == 9.8e-34; MEOW:AGgn0020573 (43%) |species == Fruitfly; gene == CG6788; score == 139; expect == 1.6e-33; MEOW:FBgn0030880 (40%) |species == Fruitfly; gene == CG32496; score == 139; expect == 1.1e-33; MEOW:FBgn0052496 (40%) |species == Mosquito; score == 137; expect == 1.1e-32; MEOW:AGgn0027693 (32%) |species == Fruitfly; gene == CG10359; score == 135; expect == 3.1e-32; MEOW:FBgn0035452 (41%) } # EOR GENR { RETE|ID 1 HUgn0000285 CHR 1 8 DID 1 LocusLink:285 MAP 1 8p23.1 NAM 1 angiopoietin 2 ORG 1 Homo sapiens SYM 1 ANGPT2 ID|HUgn0000285 DID|LocusLink:285 ORG|Homo sapiens RSQ|REFSEQ:NM_001147 RPA|REFPROT:NP_001138 DBA|XM:NM_001147 |NA:AB009865 |NA:AF004327 |NA:AF187858 |NA:AF218015 |NA:AK075219 |NA:BC022490 |NA:none PAC|XP:NP_001138 SYM|ANGPT2 NAM|angiopoietin 2 SYN|ANG2 FNC|angiopoietin 2 |cell growth and/or maintenance ; GO:0008151 |signal transduction ; GO:0007165 |angiogenesis ; GO:0001525 REAB|Naturally occurring antagonist for both ANGPT1 and TIE2; expressed only at the sites of vascular remodeling; similar to angiopoietin-1 CHR|8 PRD|Ang2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115181 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6381312 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001147 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001147 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115181 DBL|UNIGENE:Hs.115181 |OMIM:601922 |SNP:285 MAP|8p23.1 ENZ|receptor binding ; GO:0005102 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Agpt2; score == 880; expect == 0.0; MEOW:MGgn0000240 (85%) |species == rat; score == 864; expect == 0.0; MEOW:ref|XP_344545.1| (86%) |species == Human; gene == ANGPT1; score == 610; expect == 6e-175; MEOW:HUgn0000284 (62%) |species == Zfish; gene == angpt1; score == 576; expect == 5e-166; MEOW:ZFgn0002319 (58%) |species == Zfish; gene == angpt2; score == 547; expect == 2e-157; MEOW:ZFgn0002320 (53%) |species == Mosquito; gene == LOC15680; score == 160; expect == 1.1e-39; MEOW:AGgn0015680 (34%) |species == Mosquito; score == 156; expect == 1.2e-38; MEOW:AGgn0019563 (42%) |species == Mosquito; score == 155; expect == 3.6e-38; MEOW:AGgn0002335 (41%) |species == Mosquito; gene == LOC11564; score == 154; expect == 3.4e-38; MEOW:AGgn0011564 (42%) |species == Mosquito; score == 152; expect == 2.3e-37; MEOW:AGgn0027566 (40%) |species == Mosquito; gene == LOC20281; score == 150; expect == 1.2e-36; MEOW:AGgn0020281 (42%) |species == Mosquito; score == 149; expect == 2.6e-36; MEOW:AGgn0021318 (38%) |species == Mosquito; gene == LOC25169; score == 149; expect == 2.0e-36; MEOW:AGgn0025169 (42%) |species == Mosquito; score == 147; expect == 7.5e-36; MEOW:AGgn0020316 (43%) |species == Mosquito; gene == LOC11248; score == 144; expect == 4.8e-35; MEOW:AGgn0011248 (37%) |species == Fruitfly; gene == CG30280; score == 141; expect == 7.3e-34; MEOW:FBgn0050280 (38%) |species == Fruitfly; gene == CG30281; score == 141; expect == 7.3e-34; MEOW:FBgn0050281 (38%) |species == Mosquito; gene == LOC15012; score == 139; expect == 8.7e-34; MEOW:AGgn0015012 (39%) |species == Mosquito; score == 137; expect == 3.7e-33; MEOW:AGgn0020573 (44%) |species == Fruitfly; gene == sca; score == 133; expect == 1.2e-31; MEOW:FBgn0003326 (26%) |species == Fruitfly; gene == CG8642; score == 133; expect == 1.2e-31; MEOW:FBgn0033312 (29%) } # EOR GENR { RETE|ID 1 HUgn0000286 CHR 1 8 DID 1 LocusLink:286 MAP 1 8p11.1 NAM 1 ankyrin 1, erythrocytic ORG 1 Homo sapiens SYM 1 ANK1 ID|HUgn0000286 DID|LocusLink:286 ORG|Homo sapiens RSQ|REFSEQ:NM_000037 |REFSEQ:NM_020475 |REFSEQ:NM_020476 |REFSEQ:NM_020477 |REFSEQ:NM_020478 |REFSEQ:NM_020479 |REFSEQ:NM_020480 |REFSEQ:NM_020481 RPA|REFPROT:NP_000028 |REFPROT:NP_065208 |REFPROT:NP_065209 |REFPROT:NP_065210 |REFPROT:NP_065211 |REFPROT:NP_065212 |REFPROT:NP_065213 |REFPROT:NP_065214 DBA|XM:NM_000037 |XM:NM_020475 |XM:NM_020476 |XM:NM_020477 |XM:NM_020478 |XM:NM_020479 |XM:NM_020480 |XM:NM_020481 |NA:S82671 |NA:U49691 |NA:U50092 |NA:U50133 |NA:BC007930 |NA:BC014467 |NA:BC030957 |NA:M28880 |NA:X16609 |NA:none PAC|XP:NP_000028 |XP:NP_065208 |XP:NP_065209 |XP:NP_065210 |XP:NP_065211 |XP:NP_065212 |XP:NP_065213 |XP:NP_065214 SYM|ANK1 NAM|ankyrin 1, erythrocytic SYN|ANK |SPH1 |SPH2 FNC|ankyrin 1 isoform 1 |ankyrin 1 isoform 2 |ankyrin 1 isoform 3 |ankyrin 1 isoform 4 |ankyrin 1 isoform 5 |ankyrin 1 isoform 6 |ankyrin 1 isoform 7 |ankyrin 1 isoform 8 REAB|Ankyrins are a family of proteins that are believed to link the integral membrane |proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities |such as cell motility, activation, proliferation, contact and the maintenance of |specialized membrane domains. Multiple isoforms of ankyrin with different affinities |for various target proteins are expressed in a tissue-specific, developmentally |regulated manner. Most ankyrins are typically composed of three structural domains: |an amino-terminal domain containing multiple ankyrin repeats; a central region with |a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain |which is the least conserved and subject to variation. Ankyrin 1, the prototype |of this family, was first discovered in the erythrocytes, but since has also been |found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated |in approximately half of all patients with hereditary spherocytosis. Complex patterns |of alternative splicing in the regulatory domain, giving rise to different isoforms |of ankyrin 1 have been described, however, the precise functions of the various |isoforms are not known. Alternative polyadenylation accounting for the different |sized erythrocytic ankyrin 1 mRNAs, has also been reported. Truncated muscle-specific |isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been |identified. CHR|8 PRD|ankyrin-R |ankyrin-1, erythrocytic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443711 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=286[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118737 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000037 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000037 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443711 DBL|UNIGENE:Hs.443711 |OMIM:182900 |SNP:286 |UWCM:118737.html MAP|8p11.1 PHP|Spherocytosis-2 ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|actin cytoskeleton ; GO:0015629 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Ank1; score == 3216; expect == 0.0; MEOW:MGgn0000380 (89%) |species == rat; score == 2949; expect == 0.0; MEOW:ref|XP_240464.2| (88%) |species == Human; gene == ANK2; score == 1637; expect == 0.0; MEOW:HUgn0000287 (57%) |species == Mosquito; gene == LOC13300; score == 1455; expect == 0.0; MEOW:AGgn0013300 (50%) |species == Worm; gene == unc-44; score == 1368; expect == 0.0; MEOW:CEgn0002931 (48%) |species == Fruitfly; gene == Ank; score == 1262; expect == 0.0; MEOW:FBgn0011747 (46%) |species == Mosquito; gene == LOC6233; score == 1180; expect == 0.0; MEOW:AGgn0006233 (54%) |species == Zfish; gene == invs; score == 212; expect == 9.5e-56; MEOW:ZFgn0002583 (30%) |species == rice; score == 132; expect == 3.7e-31; MEOW:gnl|TIGR|8359.m03891 (34%) } # EOR GENR { RETE|ID 1 HUgn0000287 CHR 1 4 DID 1 LocusLink:287 MAP 1 4q25-q27 NAM 1 ankyrin 2, neuronal ORG 1 Homo sapiens SYM 1 ANK2 ID|HUgn0000287 DID|LocusLink:287 ORG|Homo sapiens RSQ|REFSEQ:NM_001148 |REFSEQ:NM_020977 RPA|REFPROT:NP_001139 |REFPROT:NP_066187 DBA|XM:NM_001148 |XM:NM_020977 |NA:M37123 |NA:BX537758 |NA:X56957 |NA:X56958 |NA:Z26634 |NA:none PAC|XP:NP_001139 |XP:NP_066187 SYM|ANK2 NAM|ankyrin 2, neuronal SYN|LQT4 FNC|ankyrin 2 isoform 1 |ankyrin 2 isoform 2 |signal transduction ; GO:0007165 REAB|Ankyrins are a family of proteins that are believed to link the integral membrane |proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities |such as cell motility, activation, proliferation, contact and the maintenance of |specialized membrane domains. Multiple isoforms of ankyrin with different affinities |for various target proteins are expressed in a tissue-specific, developmentally |regulated manner. Most ankyrins are typically composed of three structural domains: |an amino-terminal domain containing multiple ankyrin repeats; a central region with |a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain |which is the least conserved and subject to variation. Ankyrin 2 is predominantly |expressed, and the major ankyrin isoform in the brain. It is a distinct gene product |from ankyrin 1, with which it shares similarity in the amino-terminal ankyrin repeat |and the spectrin binding domains, however, the carboxy-terminus is unique. Alternatively |spliced transcripts, encoding different isoforms of ankyrin 2, have been described. CHR|4 PRD|ankyrin-B |ankyrin, brain |ankyrin, neuronal |Long QT syndrome-4 |ankyrin, nonerythroid |ankyrin-2, nonerythrocytic |long (electrocardiographic) QT syndrome 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=287[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:682072 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127607 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001148 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001148 |http://www.geneclinics.org/query?mim=600919 |http://www.geneclinics.org/query?mim=106410 |http://www.mssm.edu/crc/mutations/schindler.html DBL|UNIGENE:Hs.409783 |OMIM:106410 |SNP:287 MAP|4q25-q27 PHP|Long QT syndrome 4 ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|membrane ; GO:0016020 |actin cytoskeleton ; GO:0015629 HG|species == rat; score == 2979; expect == 0.0; MEOW:ref|XP_227735.2| (73%) |species == rat; score == 2672; expect == 0.0; MEOW:ref|XP_342338.1| (94%) |species == Mouse; gene == Ank1; score == 1639; expect == 0.0; MEOW:MGgn0000380 (56%) |species == Human; gene == ANK1; score == 1637; expect == 0.0; MEOW:HUgn0000286 (57%) |species == Mosquito; gene == LOC13300; score == 1578; expect == 0.0; MEOW:AGgn0013300 (57%) |species == Worm; gene == unc-44; score == 1484; expect == 0.0; MEOW:CEgn0002931 (55%) |species == Human; gene == ANK3; score == 1478; expect == 0.0; MEOW:HUgn0000288 (70%) |species == Fruitfly; gene == Ank; score == 1384; expect == 0.0; MEOW:FBgn0011747 (50%) |species == Mosquito; gene == LOC6233; score == 1335; expect == 0.0; MEOW:AGgn0006233 (60%) |species == Fruitfly; gene == Ank2; score == 1122; expect == 0.0; MEOW:FBgn0017645 (58%) |species == Zfish; gene == invs; score == 221; expect == 2.5e-58; MEOW:ZFgn0002583 (29%) |species == rice; score == 132; expect == 2.8e-31; MEOW:gnl|TIGR|8359.m03891 (29%) } # EOR GENR { RETE|ID 1 HUgn0000288 CHR 1 10 DID 1 LocusLink:288 MAP 1 10q21 NAM 1 ankyrin 3, node of Ranvier (ankyrin G) ORG 1 Homo sapiens SYM 1 ANK3 ID|HUgn0000288 DID|LocusLink:288 ORG|Homo sapiens RSQ|REFSEQ:NM_001149 |REFSEQ:NM_020987 RPA|REFPROT:NP_001140 |REFPROT:NP_066267 DBA|XM:NM_001149 |XM:NM_020987 |NA:AK092361 |NA:AK092527 |NA:AL136710 |NA:BG427669 |NA:BX537917 |NA:BX648574 |NA:U13616 |NA:none PAC|XP:NP_001140 |XP:NP_066267 SYM|ANK3 NAM|ankyrin 3, node of Ranvier (ankyrin G) FNC|ankyrin 3 isoform 1 |ankyrin 3 isoform 2 |cytoskeletal anchoring ; GO:0007016 |nonselective vesicle transport ; GO:0006899 REAB|Ankyrins are a family of proteins that are believed to link the integral membrane |proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities |such as cell motility, activation, proliferation, contact, and the maintenance of |specialized membrane domains. Multiple isoforms of ankyrin with different affinities |for various target proteins are expressed in a tissue-specific, developmentally |regulated manner. Most ankyrins are typically composed of three structural domains: |an amino-terminal domain containing multiple ankyrin repeats; a central region with |a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain |which is the least conserved and subject to variation. Ankyrin 3 is an immunologically |distinct gene product from ankyrins 1 and 2, and was originally found at the axonal |initial segment and nodes of Ranvier of neurons in the central and peripheral nervous |systems. Alternatively spliced variants may be expressed in other tissues. Although |multiple transcript variants encoding several different isoforms have been found |for this gene, the full-length nature of only two have been characterized. CHR|10 PRD|ankyrin-G |ankyrin-3, node of Ranvier URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440478 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=288[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:424503 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020987 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020987 DBL|UNIGENE:Hs.440478 |OMIM:600465 |SNP:288 MAP|10q21 ENZ|structural molecule activity ; GO:0005198 |structural constituent of cytoskeleton ; GO:0005200 CEL|Golgi apparatus ; GO:0005794 |cytoskeleton ; GO:0005856 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == ANK2; score == 1478; expect == 0.0; MEOW:HUgn0000287 (70%) |species == rat; score == 1441; expect == 0.0; MEOW:ref|XP_342338.1| (66%) |species == rat; score == 1197; expect == 0.0; MEOW:ref|XP_240464.2| (58%) |species == Human; gene == ANK1; score == 1190; expect == 0.0; MEOW:HUgn0000286 (59%) |species == Mouse; gene == Ank1; score == 1187; expect == 0.0; MEOW:MGgn0000380 (58%) |species == Mouse; gene == Ank3; score == 1117; expect == 0.0; MEOW:MGgn0000382 (94%) |species == Mosquito; gene == LOC13300; score == 1082; expect == 0.0; MEOW:AGgn0013300 (54%) |species == Fruitfly; gene == Ank; score == 942; expect == 0.0; MEOW:FBgn0011747 (48%) |species == Fruitfly; gene == Ank2; score == 803; expect == 0.0; MEOW:FBgn0017645 (54%) |species == Worm; gene == unc-44; score == 546; expect == 2e-155; MEOW:CEgn0002931 (59%) |species == Zfish; gene == invs; score == 167; expect == 1.2e-42; MEOW:ZFgn0002583 (28%) |species == rice; score == 134; expect == 6.3e-31; MEOW:gnl|TIGR|8360.m04033 (32%) |species == Weed; gene == At2g03430; score == 131; expect == 2.8e-31; MEOW:ATgn0008484 (40%) } # EOR GENR { RETE|ID 1 HUgn0000289 CHR 1 X DID 1 LocusLink:289 MAP 1 Xq27-q28 NAM 1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) ORG 1 Homo sapiens SYM 1 ANOP1 ID|HUgn0000289 DID|LocusLink:289 ORG|Homo sapiens SYM|ANOP1 NAM|anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) CHR|X PRD|Anophthalmos-1 (with mental retardation but without anomalies) DBL|OMIM:301590 MAP|Xq27-q28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128454 } # EOR GENR { RETE|ID 1 HUgn0000290 CHR 1 15 DID 1 LocusLink:290 MAP 1 15q25-q26 NAM 1 alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) ORG 1 Homo sapiens SYM 1 ANPEP ID|HUgn0000290 DID|LocusLink:290 ORG|Homo sapiens RSQ|REFSEQ:NM_001150 RPA|REFPROT:NP_001141 DBA|XM:NM_001150 |NA:BC058928 |NA:M22324 |NA:X13276 |NA:none PAC|XP:NP_001141 SYM|ANPEP NAM|alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) SYN|CD13 |LAP1 |PEPN |gp150 FNC|membrane alanine aminopeptidase precursor |pathogenesis ; GO:0009405 |proteolysis and peptidolysis ; GO:0006508 |angiogenesis ; GO:0001525 REAB|Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, |and also in other plasma membranes. In the small intestine aminopeptidase N plays |a role in the final digestion of peptides generated from hydrolysis of proteins |by gastric and pancreatic proteases. Its function in proximal tubular epithelial |cells and other cell types is less clear. The large extracellular carboxyterminal |domain contains a pentapeptide consensus sequence characteristic of members of the |zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes |of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme |was thought to be involved in the metabolism of regulatory peptides by diverse cell |types, including small intestinal and renal tubular epithelial cells, macrophages, |granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor |for one strain of human coronavirus that is an important cause of upper respiratory |tract infections. Defects in this gene appear to be a cause of various types of |leukemia or lymphoma. CHR|15 PRD|aminopeptidase M |aminopeptidase N |microsomal aminopeptidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1239 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=290[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118728 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001150 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001150 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00480 DBL|UNIGENE:Hs.1239 |OMIM:151530 |SNP:290 |PROW:1880618372 ENZ|EC:3.4.11.2 |aminopeptidase activity ; GO:0004177 |metallopeptidase activity ; GO:0008237 |zinc ion binding ; GO:0008270 |receptor activity ; GO:0004872 |membrane alanyl aminopeptidase activity ; GO:0004179 |hydrolase activity ; GO:0016787 MAP|15q25-q26 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1490; expect == 0.0; MEOW:ref|NP_112274.1| (77%) |species == Mouse; gene == Anpep; score == 1464; expect == 0.0; MEOW:MGgn0006980 (76%) |species == Fruitfly; gene == CG8773; score == 578; expect == 5e-165; MEOW:FBgn0038135 (36%) |species == Human; gene == ENPEP; score == 565; expect == 4e-161; MEOW:HUgn0002028 (35%) |species == Human; gene == TRHDE; score == 554; expect == 1e-157; MEOW:HUgn0029953 (35%) |species == Fruitfly; gene == CG31427; score == 548; expect == 7e-156; MEOW:FBgn0051427 (36%) |species == Fruitfly; gene == CG31445; score == 548; expect == 7e-156; MEOW:FBgn0051445 (36%) |species == Mosquito; score == 531; expect == 4e-151; MEOW:AGgn0020286 (35%) |species == Fruitfly; gene == CG32473; score == 515; expect == 3e-146; MEOW:FBgn0052473 (34%) |species == Mosquito; score == 508; expect == 5e-144; MEOW:AGgn0017786 (37%) |species == Human; gene == ARTS-1; score == 497; expect == 1e-140; MEOW:HUgn0051752 (33%) |species == Fruitfly; gene == CG8774; score == 478; expect == 4e-135; MEOW:FBgn0038136 (32%) |species == Human; gene == LNPEP; score == 471; expect == 9e-133; MEOW:HUgn0004012 (33%) |species == Human; gene == LRAP; score == 460; expect == 2e-129; MEOW:HUgn0064167 (33%) |species == Mosquito; score == 448; expect == 7e-126; MEOW:AGgn0026472 (32%) |species == Worm; gene == T07F10.1; score == 411; expect == 8e-115; MEOW:CEgn0015724 (29%) |species == Weed; gene == At4g33090; score == 403; expect == 3e-112; MEOW:ATgn0018022 (31%) |species == Yeast; gene == AAP1'; score == 400; expect == 2e-111; MEOW:SGgn0001089 (30%) |species == rice; score == 391; expect == 1e-108; MEOW:gnl|TIGR|8351.m01093 (30%) |species == Yeast; gene == APE2; score == 387; expect == 5e-108; MEOW:SGgn0001640 (29%) |species == rice; score == 327; expect == 2.3e-89; MEOW:gnl|TIGR|8357.m01650 (29%) |species == rice; score == 318; expect == 3.4e-87; MEOW:gnl|TIGR|8357.m01651 (38%) } # EOR GENR { RETE|ID 1 HUgn0000291 CHR 1 4 DID 1 LocusLink:291 MAP 1 4q35 NAM 1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 ORG 1 Homo sapiens SYM 1 SLC25A4 ID|HUgn0000291 DID|LocusLink:291 ORG|Homo sapiens RSQ|REFSEQ:NM_001151 RPA|REFPROT:NP_001142 DBA|XM:NM_001151 |NA:J04982 |NA:BC008664 |NA:BC061589 |NA:J02966 PAC|XP:NP_001142 SYM|SLC25A4 NAM|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 SYN|T1 |ANT |ANT1 |PEO2 |PEO3 FNC|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |mitochondrial genome maintenance ; GO:0000002 |small molecule transport ; GO:0006832 |energy pathways ; GO:0006091 CHR|4 PRD|adenine nucleotide translocator 1 (skeletal muscle) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2043 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=291[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119680 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001151 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001151 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2043 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=291 DBL|UNIGENE:Hs.2043 |OMIM:103220 |SNP:291 MAP|4q35 PHP|Progressive external ophthalmoplegia with mitochondrial DNA deletions |Heart-skeletal muscle adenine nucleotide translocator; strongly similar to murine Ant1 ENZ|adenine transporter activity ; GO:0015207 CEL|mitochondrion ; GO:0005739 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 544; expect == 3e-155; MEOW:ref|NP_445967.1| (94%) |species == Mouse; gene == Slc25a5; score == 521; expect == 1e-148; MEOW:MGgn0013546 (89%) |species == rat; score == 521; expect == 2e-148; MEOW:ref|NP_476443.1| (89%) |species == Human; gene == SLC25A5; score == 518; expect == 2e-147; MEOW:HUgn0000292 (88%) |species == Human; gene == SLC25A6; score == 510; expect == 3e-145; MEOW:HUgn0000293 (86%) |species == Zfish; gene == slc25a5; score == 509; expect == 9e-145; MEOW:ZFgn0002579 (86%) |species == rat; score == 499; expect == 7e-142; MEOW:ref|XP_215796.2| (86%) |species == rat; score == 485; expect == 1e-137; MEOW:ref|XP_215482.2| (85%) |species == Human; gene == LOC344371; score == 476; expect == 8e-135; MEOW:HUgn0344371 (78%) |species == rat; score == 473; expect == 7e-134; MEOW:ref|XP_214533.1| (85%) |species == rat; score == 462; expect == 1e-130; MEOW:ref|XP_216932.2| (84%) |species == Mosquito; score == 459; expect == 8e-130; MEOW:AGgn0014881 (77%) |species == Fruitfly; gene == sesB; score == 458; expect == 2e-129; MEOW:FBgn0003360 (79%) |species == Human; gene == LOC138412; score == 442; expect == 1e-124; MEOW:HUgn0138412 (74%) |species == Mosquito; score == 434; expect == 3e-122; MEOW:AGgn0020278 (77%) |species == Mouse; gene == Slc25a4; score == 434; expect == 3e-122; MEOW:MGgn0013545 (92%) |species == Fruitfly; gene == Ant2; score == 421; expect == 2e-118; MEOW:FBgn0025111 (73%) |species == Worm; gene == T01B11.4; score == 381; expect == 3e-106; MEOW:CEgn0015094 (69%) |species == Worm; gene == K01H12.2; score == 380; expect == 5e-106; MEOW:CEgn0012967 (69%) |species == Worm; gene == T27E9.1a; score == 378; expect == 2e-105; MEOW:CEgn0032568 (69%) |species == Worm; gene == W02D3.6; score == 365; expect == 1e-101; MEOW:CEgn0017380 (65%) |species == rice; score == 268; expect == 2.9e-72; MEOW:gnl|TIGR|8351.m04642 (54%) |species == Weed; gene == At3g08580; score == 263; expect == 1.2e-70; MEOW:ATgn0011910 (54%) |species == Weed; gene == At5g56450; score == 263; expect == 7.5e-71; MEOW:ATgn0022553 (44%) |species == Weed; gene == At4g28390; score == 256; expect == 1.9e-68; MEOW:ATgn0019341 (53%) |species == Yeast; gene == PET9; score == 255; expect == 2.6e-68; MEOW:SGgn0000126 (53%) |species == Weed; gene == At5g13490; score == 250; expect == 8.1e-67; MEOW:ATgn0026143 (53%) |species == Yeast; gene == AAC3; score == 249; expect == 1.3e-66; MEOW:SGgn0000289 (50%) |species == rice; score == 246; expect == 1.5e-65; MEOW:gnl|TIGR|8353.m01978 (51%) |species == Yeast; gene == AAC1; score == 238; expect == 8.4e-64; MEOW:SGgn0004660 (53%) |species == Weed; gene == At5g17400; score == 216; expect == 1.2e-56; MEOW:ATgn0023501 (48%) } # EOR GENR { RETE|ID 1 HUgn0000292 CHR 1 X DID 1 LocusLink:292 MAP 1 Xq24-q26 NAM 1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 ORG 1 Homo sapiens SYM 1 SLC25A5 ID|HUgn0000292 DID|LocusLink:292 ORG|Homo sapiens RSQ|REFSEQ:NM_001152 RPA|REFPROT:NP_001143 DBA|XM:NM_001152 |NA:AC004000 |NA:L78810 |NA:M57424 |NA:BC056160 |NA:J02683 |NA:J03591 |NA:none PAC|XP:NP_001143 SYM|SLC25A5 NAM|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 SYN|T2 |T3 |ANT2 FNC|solute carrier family 25, member 5 |mitochondrial transport ; GO:0006839 |transport ; GO:0006810 CHR|X PRD|2F1 |adenine nucleotide translocator 2 (fibroblast) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79172 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=292[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125190 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001152 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001152 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79172 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=292 DBL|UNIGENE:Hs.79172 |OMIM:300150 |SNP:292 |IXDB:50201 MAP|Xq24-q26 ENZ|adenine transporter activity ; GO:0015207 |binding ; GO:0005488 |transporter activity ; GO:0005215 CEL|mitochondrion ; GO:0005739 |integral to plasma membrane ; GO:0005887 |mitochondrial inner membrane ; GO:0005743 HG|species == rat; score == 571; expect == 1e-163; MEOW:ref|NP_476443.1| (98%) |species == Mouse; gene == Slc25a5; score == 569; expect == 5e-163; MEOW:MGgn0013546 (98%) |species == rat; score == 552; expect == 9e-158; MEOW:ref|XP_215796.2| (95%) |species == Zfish; gene == slc25a5; score == 542; expect == 1e-154; MEOW:ZFgn0002579 (93%) |species == rat; score == 542; expect == 1e-154; MEOW:ref|XP_214533.1| (94%) |species == Human; gene == SLC25A6; score == 541; expect == 2e-154; MEOW:HUgn0000293 (92%) |species == Human; gene == LOC344371; score == 532; expect == 8e-152; MEOW:HUgn0344371 (88%) |species == rat; score == 530; expect == 4e-151; MEOW:ref|XP_216932.2| (92%) |species == rat; score == 527; expect == 2e-150; MEOW:ref|NP_445967.1| (89%) |species == rat; score == 524; expect == 3e-149; MEOW:ref|XP_215482.2| (92%) |species == Human; gene == SLC25A4; score == 518; expect == 2e-147; MEOW:HUgn0000291 (88%) |species == Human; gene == LOC138412; score == 468; expect == 1e-132; MEOW:HUgn0138412 (78%) |species == Fruitfly; gene == sesB; score == 466; expect == 4e-132; MEOW:FBgn0003360 (81%) |species == Mosquito; score == 464; expect == 3e-131; MEOW:AGgn0014881 (78%) |species == Mosquito; score == 451; expect == 1e-127; MEOW:AGgn0020278 (79%) |species == Fruitfly; gene == Ant2; score == 416; expect == 1e-116; MEOW:FBgn0025111 (74%) |species == Worm; gene == T27E9.1a; score == 378; expect == 1e-105; MEOW:CEgn0032568 (70%) |species == Worm; gene == K01H12.2; score == 377; expect == 3e-105; MEOW:CEgn0012967 (71%) |species == Worm; gene == T01B11.4; score == 377; expect == 3e-105; MEOW:CEgn0015094 (71%) |species == Worm; gene == W02D3.6; score == 360; expect == 3e-100; MEOW:CEgn0017380 (67%) |species == Yeast; gene == AAC3; score == 272; expect == 4.0e-74; MEOW:SGgn0000289 (54%) |species == rice; score == 271; expect == 3.4e-73; MEOW:gnl|TIGR|8351.m04642 (54%) |species == Weed; gene == At5g56450; score == 270; expect == 1.1e-72; MEOW:ATgn0022553 (46%) |species == Yeast; gene == PET9; score == 269; expect == 4.5e-73; MEOW:SGgn0000126 (54%) |species == Weed; gene == At5g13490; score == 266; expect == 1.0e-71; MEOW:ATgn0026143 (54%) |species == Weed; gene == At4g28390; score == 265; expect == 2.3e-71; MEOW:ATgn0019341 (53%) |species == Weed; gene == At3g08580; score == 263; expect == 6.6e-71; MEOW:ATgn0011910 (54%) |species == Yeast; gene == AAC1; score == 263; expect == 3.2e-71; MEOW:SGgn0004660 (53%) |species == rice; score == 262; expect == 3.2e-70; MEOW:gnl|TIGR|8353.m01978 (53%) |species == Weed; gene == At5g17400; score == 235; expect == 1.9e-62; MEOW:ATgn0023501 (48%) } # EOR GENR { RETE|ID 1 HUgn0000293 CHR 1 X DID 1 LocusLink:293 MAP 1 Xp22.32 and Yp NAM 1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 ORG 1 Homo sapiens SYM 1 SLC25A6 ID|HUgn0000293 DID|LocusLink:293 ORG|Homo sapiens RSQ|REFSEQ:NM_001636 RPA|REFPROT:NP_001627 DBA|XM:NM_001636 |XM:NM_001636 |NA:AY007135 |NA:BC007295 |NA:BC007850 |NA:BC008737 |NA:BC008935 |NA:BC013256 |NA:BC014775 |NA:BC031912 |NA:BC035469 |NA:J03592 |NA:J03593 |NA:none PAC|XP:NP_001627 |XP:NP_001627 SYM|SLC25A6 NAM|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 SYN|ANT3 |ANT3Y |MGC17525 FNC|solute carrier family 25, member A6 |mitochondrial transport ; GO:0006839 |transport ; GO:0006810 |ATP/ADP exchange ; GO:0006854 CHR|X |Y PRD|ADP/ATP translocase 3 |ADP/ATP translocator of liver |adenine nucleotide translocator 3 |ADP,ATP carrier protein, liver isoform T2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=350927 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=293[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125184 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001636 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001636 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=350927 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=293 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA35868 DBL|UNIGENE:Hs.350927 |OMIM:300151 |OMIM:403000 |SNP:293 |IXDB:520901 MAP|Xp22.32 and Yp ENZ|binding ; GO:0005488 |transporter activity ; GO:0005215 |ATP:ADP antiporter activity ; GO:0005471 CEL|mitochondrial inner membrane pre-sequence translocase complex ; GO:0005744 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == Human; gene == SLC25A5; score == 541; expect == 2e-154; MEOW:HUgn0000292 (92%) |species == rat; score == 536; expect == 5e-153; MEOW:ref|NP_476443.1| (91%) |species == Mouse; gene == Slc25a5; score == 534; expect == 2e-152; MEOW:MGgn0013546 (91%) |species == Zfish; gene == slc25a5; score == 534; expect == 1e-153; MEOW:ZFgn0002579 (91%) |species == rat; score == 526; expect == 7e-150; MEOW:ref|NP_445967.1| (89%) |species == rat; score == 518; expect == 1e-147; MEOW:ref|XP_215796.2| (88%) |species == Human; gene == SLC25A4; score == 510; expect == 3e-145; MEOW:HUgn0000291 (86%) |species == rat; score == 510; expect == 3e-145; MEOW:ref|XP_214533.1| (88%) |species == Human; gene == LOC344371; score == 497; expect == 3e-141; MEOW:HUgn0344371 (81%) |species == rat; score == 496; expect == 8e-141; MEOW:ref|XP_216932.2| (85%) |species == Human; gene == LOC138412; score == 491; expect == 1e-139; MEOW:HUgn0138412 (84%) |species == rat; score == 491; expect == 2e-139; MEOW:ref|XP_215482.2| (85%) |species == Mosquito; score == 462; expect == 1e-130; MEOW:AGgn0014881 (77%) |species == Fruitfly; gene == sesB; score == 460; expect == 3e-130; MEOW:FBgn0003360 (80%) |species == Mosquito; score == 449; expect == 4e-127; MEOW:AGgn0020278 (77%) |species == Fruitfly; gene == Ant2; score == 415; expect == 1e-116; MEOW:FBgn0025111 (74%) |species == Worm; gene == K01H12.2; score == 376; expect == 5e-105; MEOW:CEgn0012967 (70%) |species == Worm; gene == T01B11.4; score == 375; expect == 1e-104; MEOW:CEgn0015094 (70%) |species == Worm; gene == T27E9.1a; score == 375; expect == 1e-104; MEOW:CEgn0032568 (68%) |species == Worm; gene == W02D3.6; score == 358; expect == 1.8e-99; MEOW:CEgn0017380 (66%) |species == Yeast; gene == AAC3; score == 273; expect == 1.8e-74; MEOW:SGgn0000289 (53%) |species == Yeast; gene == PET9; score == 266; expect == 2.2e-72; MEOW:SGgn0000126 (53%) |species == rice; score == 266; expect == 1.4e-71; MEOW:gnl|TIGR|8351.m04642 (53%) |species == Weed; gene == At5g56450; score == 263; expect == 7.5e-71; MEOW:ATgn0022553 (45%) |species == Weed; gene == At5g13490; score == 261; expect == 4.3e-70; MEOW:ATgn0026143 (52%) |species == Weed; gene == At4g28390; score == 260; expect == 9.5e-70; MEOW:ATgn0019341 (51%) |species == Yeast; gene == AAC1; score == 260; expect == 1.6e-70; MEOW:SGgn0004660 (51%) |species == Weed; gene == At3g08580; score == 258; expect == 3.6e-69; MEOW:ATgn0011910 (52%) |species == rice; score == 258; expect == 4.6e-69; MEOW:gnl|TIGR|8353.m01978 (52%) |species == Weed; gene == At5g17400; score == 236; expect == 8.6e-63; MEOW:ATgn0023501 (47%) } # EOR GENR { RETE|ID 1 HUgn0000294 DID 1 LocusLink:294 NAM 1 adenine nucleotide translocator pseudogene 1 (clone 29) ORG 1 Homo sapiens SYM 1 ANTP1 ID|HUgn0000294 DID|LocusLink:294 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP1 NAM|adenine nucleotide translocator pseudogene 1 (clone 29) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128822 } # EOR GENR { RETE|ID 1 HUgn0000295 DID 1 LocusLink:295 NAM 1 adenine nucleotide translocator pseudogene 2 (clone 7) ORG 1 Homo sapiens SYM 1 ANTP2 ID|HUgn0000295 DID|LocusLink:295 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP2 NAM|adenine nucleotide translocator pseudogene 2 (clone 7) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128823 } # EOR GENR { RETE|ID 1 HUgn0000296 DID 1 LocusLink:296 NAM 1 adenine nucleotide translocator pseudogene 3 (clone 13) ORG 1 Homo sapiens SYM 1 ANTP3 ID|HUgn0000296 DID|LocusLink:296 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP3 NAM|adenine nucleotide translocator pseudogene 3 (clone 13) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128824 } # EOR GENR { RETE|ID 1 HUgn0000297 DID 1 LocusLink:297 NAM 1 adenine nucleotide translocator pseudogene 4 (clone 9) ORG 1 Homo sapiens SYM 1 ANTP4 ID|HUgn0000297 DID|LocusLink:297 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP4 NAM|adenine nucleotide translocator pseudogene 4 (clone 9) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128825 } # EOR GENR { RETE|ID 1 HUgn0000298 DID 1 LocusLink:298 NAM 1 adenine nucleotide translocator pseudogene 5 (clone 19) ORG 1 Homo sapiens SYM 1 ANTP5 ID|HUgn0000298 DID|LocusLink:298 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP5 NAM|adenine nucleotide translocator pseudogene 5 (clone 19) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128826 } # EOR GENR { RETE|ID 1 HUgn0000299 DID 1 LocusLink:299 NAM 1 adenine nucleotide translocator pseudogene 6 (clone 3) ORG 1 Homo sapiens SYM 1 ANTP6 ID|HUgn0000299 DID|LocusLink:299 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP6 NAM|adenine nucleotide translocator pseudogene 6 (clone 3) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128827 } # EOR GENR { RETE|ID 1 HUgn0000300 DID 1 LocusLink:300 NAM 1 adenine nucleotide translocator pseudogene 7 (clone 2) ORG 1 Homo sapiens SYM 1 ANTP7 ID|HUgn0000300 DID|LocusLink:300 CLA|Pseudogene ORG|Homo sapiens SYM|ANTP7 NAM|adenine nucleotide translocator pseudogene 7 (clone 2) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128828 } # EOR GENR { RETE|ID 1 HUgn0000301 CHR 1 9 DID 1 LocusLink:301 MAP 1 9q12-q21.2 NAM 1 annexin A1 ORG 1 Homo sapiens SYM 1 ANXA1 ID|HUgn0000301 DID|LocusLink:301 ORG|Homo sapiens RSQ|REFSEQ:NM_000700 RPA|REFPROT:NP_000691 DBA|XM:NM_000700 |NA:U25414 |NA:AK074480 |NA:BC001275 |NA:BC018683 |NA:BC034157 |NA:BC035993 |NA:X05908 |NA:none PAC|XP:NP_000691 SYM|ANXA1 NAM|annexin A1 SYN|ANX1 |LPC1 FNC|annexin I |lipid metabolism ; GO:0006629 |cell surface receptor linked signal transduction ; GO:0007166 |cell motility ; GO:0006928 |inflammatory response ; GO:0006954 REAB|Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which |have a molecular weight of approximately 35,000 to 40,000 and are preferentially |located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent |relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since |phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, |prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory |activity. CHR|9 PRD|lipocortin I |annexin I (lipocortin I) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=287558 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=301[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120550 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000700 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000700 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=287558 DBL|UNIGENE:Hs.287558 |OMIM:151690 |SNP:301 MAP|9q12-q21.2 ENZ|calcium-dependent phospholipid binding ; GO:0005544 |receptor binding ; GO:0005102 |calcium ion binding ; GO:0005509 |phospholipase A2 inhibitor activity ; GO:0019834 HG|species == rat; score == 610; expect == 3e-175; MEOW:ref|NP_037036.1| (89%) |species == Mouse; gene == Anxa1; score == 597; expect == 2e-171; MEOW:MGgn0007145 (87%) |species == Human; gene == ANXA2; score == 336; expect == 1.2e-92; MEOW:HUgn0000302 (54%) |species == Human; gene == bA255A11.3; score == 327; expect == 7.5e-90; MEOW:HUgn0158177 (53%) |species == Human; gene == ANXA3; score == 294; expect == 5.0e-80; MEOW:HUgn0000306 (49%) |species == Human; gene == ANXA11; score == 294; expect == 5.6e-80; MEOW:HUgn0000311 (47%) |species == Human; gene == ANXA7; score == 278; expect == 3.2e-75; MEOW:HUgn0000310 (46%) |species == Human; gene == ANXA4; score == 270; expect == 6.6e-73; MEOW:HUgn0000307 (45%) |species == Mosquito; score == 255; expect == 2.1e-68; MEOW:AGgn0029637 (44%) |species == Mosquito; gene == LOC15145; score == 254; expect == 3.6e-68; MEOW:AGgn0015145 (44%) |species == Fruitfly; gene == AnnIX; score == 253; expect == 8.4e-68; MEOW:FBgn0000083 (45%) |species == Zfish; gene == anxa13; score == 253; expect == 1.3e-67; MEOW:ZFgn0002209 (44%) |species == Mosquito; score == 251; expect == 1.8e-67; MEOW:AGgn0025824 (44%) |species == Worm; gene == nex-2; score == 251; expect == 2.2e-67; MEOW:CEgn0002148 (42%) |species == Mosquito; score == 250; expect == 4.0e-67; MEOW:AGgn0027336 (45%) |species == Mosquito; gene == LOC15318; score == 248; expect == 2.6e-66; MEOW:AGgn0015318 (44%) |species == Mosquito; score == 243; expect == 8.3e-65; MEOW:AGgn0015300 (44%) |species == Mosquito; gene == LOC22779; score == 241; expect == 1.8e-64; MEOW:AGgn0022779 (44%) |species == Fruitfly; gene == AnnX; score == 234; expect == 4.0e-62; MEOW:FBgn0000084 (41%) |species == Fruitfly; gene == Anxb11; score == 231; expect == 2.0e-61; MEOW:FBgn0030749 (40%) |species == Worm; gene == nex-1; score == 216; expect == 7.8e-57; MEOW:CEgn0002147 (37%) |species == Weed; gene == At1g68090; score == 163; expect == 1.5e-40; MEOW:ATgn0000148 (32%) |species == rice; score == 159; expect == 3.6e-39; MEOW:gnl|TIGR|8354.m01084 (33%) |species == Weed; gene == At1g35720; score == 153; expect == 1.4e-37; MEOW:ATgn0005358 (33%) |species == Weed; gene == At5g65020; score == 153; expect == 1.4e-37; MEOW:ATgn0024785 (34%) |species == rice; score == 153; expect == 2.6e-37; MEOW:gnl|TIGR|8351.m04943 (33%) |species == Weed; gene == At5g10230; score == 152; expect == 1.8e-37; MEOW:ATgn0022864 (33%) |species == rice; score == 152; expect == 5.7e-37; MEOW:gnl|TIGR|8357.m01946 (34%) |species == rice; score == 149; expect == 3.7e-36; MEOW:gnl|TIGR|8356.m03165 (32%) |species == Weed; gene == At5g10220; score == 139; expect == 1.6e-33; MEOW:ATgn0022863 (31%) |species == Weed; gene == At5g12380; score == 139; expect == 2.3e-33; MEOW:ATgn0031012 (31%) } # EOR GENR { RETE|ID 1 HUgn0000302 CHR 1 15 DID 1 LocusLink:302 MAP 1 15q21-q22 NAM 1 annexin A2 ORG 1 Homo sapiens SYM 1 ANXA2 ID|HUgn0000302 DID|LocusLink:302 ORG|Homo sapiens RSQ|REFSEQ:NM_004039 RPA|REFPROT:NP_004030 DBA|XM:NM_004039 |NA:AK092006 |NA:AK124427 |NA:BC001388 |NA:BC009564 |NA:BC013843 |NA:BC015834 |NA:BC016774 |NA:BC021114 |NA:BC023990 |NA:BC052558 |NA:BC052567 |NA:BT007432 |NA:BX640598 |NA:D00017 |NA:none PAC|XP:NP_004030 SYM|ANXA2 NAM|annexin A2 SYN|ANX2 |LIP2 |LPC2 |CAL1H |LPC2D |ANX2L4 FNC|annexin A2 |skeletal development ; GO:0001501 REAB|This gene encodes a member of the annexin family. Members of this calcium-dependent |phospholipid-binding protein family play a role in the regulation of cellular growth |and in signal transduction pathways. This protein functions as an autocrine factor |which heightens osteoclast formation and bone resorption. CHR|15 PRD|annexin II |lipocortin II |Annexin II (lipocortin I) |annexin II (lipocortin II) |calpactin I, heavy polypeptide (p36) |annexin II (lipocortin II; calpactin I, heavy polypeptide) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=462864 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=302[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120554 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004039 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=462864 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24827 DBL|UNIGENE:Hs.462864 |OMIM:151740 |SNP:302 MAP|15q21-q22 ENZ|phospholipase inhibitor activity ; GO:0004859 |calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 |anticoagulant activity ; GO:0008435 CEL|soluble fraction ; GO:0005625 |plasma membrane ; GO:0005886 HG|species == Human; gene == bA255A11.3; score == 655; expect == 0.0; MEOW:HUgn0158177 (97%) |species == Mouse; gene == Anxa2; score == 654; expect == 0.0; MEOW:MGgn0000988 (97%) |species == rat; score == 650; expect == 0.0; MEOW:ref|NP_063970.1| (96%) |species == Mosquito; gene == LOC15318; score == 244; expect == 3.6e-65; MEOW:AGgn0015318 (43%) |species == Mosquito; score == 240; expect == 5.2e-64; MEOW:AGgn0025824 (42%) |species == Mosquito; score == 238; expect == 2.6e-63; MEOW:AGgn0029637 (39%) |species == Mosquito; gene == LOC15145; score == 237; expect == 4.4e-63; MEOW:AGgn0015145 (40%) |species == Fruitfly; gene == AnnX; score == 237; expect == 4.6e-63; MEOW:FBgn0000084 (39%) |species == Mosquito; score == 233; expect == 4.9e-62; MEOW:AGgn0027336 (42%) |species == Fruitfly; gene == Anxb11; score == 231; expect == 3.3e-61; MEOW:FBgn0030749 (40%) |species == Mosquito; score == 228; expect == 1.6e-60; MEOW:AGgn0015300 (42%) |species == Worm; gene == nex-2; score == 227; expect == 5.6e-60; MEOW:CEgn0002148 (40%) |species == Mosquito; gene == LOC22779; score == 225; expect == 1.3e-59; MEOW:AGgn0022779 (41%) |species == Fruitfly; gene == AnnIX; score == 225; expect == 1.8e-59; MEOW:FBgn0000083 (41%) |species == Zfish; gene == anxa13; score == 222; expect == 1.4e-59; MEOW:ZFgn0002209 (41%) |species == Worm; gene == nex-1; score == 216; expect == 7.6e-57; MEOW:CEgn0002147 (39%) |species == Worm; gene == nex-3; score == 200; expect == 7.4e-52; MEOW:CEgn0002149 (36%) |species == Weed; gene == At1g68090; score == 196; expect == 1.4e-50; MEOW:ATgn0000148 (37%) |species == rice; score == 167; expect == 1.7e-41; MEOW:gnl|TIGR|8356.m03165 (31%) |species == rice; score == 166; expect == 4.8e-41; MEOW:gnl|TIGR|8357.m01946 (40%) } # EOR GENR { RETE|ID 1 HUgn0000303 CHR 1 4 DID 1 LocusLink:303 MAP 1 4q21-q31 NAM 1 annexin A2 pseudogene 1 ORG 1 Homo sapiens SYM 1 ANXA2P1 ID|HUgn0000303 DID|LocusLink:303 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M62896 SYM|ANXA2P1 NAM|annexin A2 pseudogene 1 SYN|LPC2A |ANX2L1 |ANX2P1 CHR|4 PRD|annexin II (lipocortin II) pseudogene 1 MAP|4q21-q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120551 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62896 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62896 } # EOR GENR { RETE|ID 1 HUgn0000304 CHR 1 9 DID 1 LocusLink:304 MAP 1 9p13 NAM 1 annexin A2 pseudogene 2 ORG 1 Homo sapiens SYM 1 ANXA2P2 ID|HUgn0000304 DID|LocusLink:304 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M62898 SYM|ANXA2P2 NAM|annexin A2 pseudogene 2 SYN|LPC2B |ANX2L2 |ANX2P2 CHR|9 PRD|annexin II (lipocortin II) pseudogene 2 MAP|9p13 DBL|SNP:304 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120552 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62898 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62898 } # EOR GENR { RETE|ID 1 HUgn0000305 CHR 1 10 DID 1 LocusLink:305 MAP 1 10q21-q22 NAM 1 annexin A2 pseudogene 3 ORG 1 Homo sapiens SYM 1 ANXA2P3 ID|HUgn0000305 DID|LocusLink:305 CLA|Pseudogene ORG|Homo sapiens DBA|XM:NR_001446 |NA:M62895 SYM|ANXA2P3 NAM|annexin A2 pseudogene 3 SYN|LIP2 |LPC2C |ANX2L3 |ANX2P3 CHR|10 PRD|annexin II (lipocortin II) pseudogene 3 MAP|10q21-q22 DBL|SNP:305 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120553 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=M62895 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M62895 } # EOR GENR { RETE|ID 1 HUgn0000306 CHR 1 4 DID 1 LocusLink:306 MAP 1 4q13-q22 NAM 1 annexin A3 ORG 1 Homo sapiens SYM 1 ANXA3 ID|HUgn0000306 DID|LocusLink:306 ORG|Homo sapiens RSQ|REFSEQ:NM_005139 RPA|REFPROT:NP_005130 DBA|XM:NM_005139 |NA:L20591 |NA:BC000871 |NA:M20560 |NA:M63310 |NA:none PAC|XP:NP_005130 SYM|ANXA3 NAM|annexin A3 SYN|ANX3 FNC|annexin A3 REAB|This gene encodes a member of the annexin family. Members of this calcium-dependent |phospholipid-binding protein family play a role in the regulation of cellular growth |and in signal transduction pathways. This protein functions in the inhibition of |phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. |This protein may also play a role in anti-coagulation. CHR|4 PRD|calcimedin 35-alpha |Annexin III (lipocortin III) |annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442733 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=306[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125900 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005139 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005139 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=442733 DBL|UNIGENE:Hs.442733 |OMIM:106490 |SNP:306 ENZ|EC:3.1.4.36 |calcium-dependent phospholipid binding ; GO:0005544 |diphosphoinositol-polyphosphate diphosphatase activity ; GO:0008486 |calcium ion binding ; GO:0005509 |anticoagulant activity ; GO:0008435 |phospholipase A2 inhibitor activity ; GO:0019834 MAP|4q13-q22 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Anxa3; score == 577; expect == 3e-165; MEOW:MGgn0000393 (89%) |species == rat; score == 545; expect == 2e-155; MEOW:ref|NP_036955.1| (85%) |species == Human; gene == ANXA4; score == 336; expect == 8.8e-93; MEOW:HUgn0000307 (53%) |species == Human; gene == ANXA11; score == 332; expect == 2.2e-91; MEOW:HUgn0000311 (52%) |species == Human; gene == ANXA6; score == 322; expect == 1.3e-88; MEOW:HUgn0000309 (51%) |species == Human; gene == ANXA5; score == 317; expect == 7.2e-87; MEOW:HUgn0000308 (50%) |species == Human; gene == ANXA1; score == 294; expect == 5.0e-80; MEOW:HUgn0000301 (49%) |species == Human; gene == ANXA8; score == 289; expect == 1.6e-78; MEOW:HUgn0000244 (49%) |species == Human; gene == ANXA2; score == 287; expect == 6.2e-78; MEOW:HUgn0000302 (48%) |species == Human; gene == ANXA7; score == 286; expect == 1.4e-77; MEOW:HUgn0000310 (46%) |species == Human; gene == bA255A11.3; score == 282; expect == 2.6e-76; MEOW:HUgn0158177 (47%) |species == Mosquito; gene == LOC15145; score == 277; expect == 2.8e-75; MEOW:AGgn0015145 (46%) |species == Mosquito; gene == LOC15318; score == 273; expect == 4.0e-74; MEOW:AGgn0015318 (46%) |species == Mosquito; score == 273; expect == 5.2e-74; MEOW:AGgn0029637 (46%) |species == Human; gene == ANXA10; score == 269; expect == 1.7e-72; MEOW:HUgn0011199 (44%) |species == Zfish; gene == anxa13; score == 265; expect == 1.0e-72; MEOW:ZFgn0002209 (47%) |species == Mosquito; score == 264; expect == 2.4e-71; MEOW:AGgn0025824 (45%) |species == Worm; gene == nex-2; score == 263; expect == 1.3e-70; MEOW:CEgn0002148 (44%) |species == Fruitfly; gene == AnnX; score == 260; expect == 1.0e-69; MEOW:FBgn0000084 (44%) |species == Mosquito; score == 258; expect == 2.3e-69; MEOW:AGgn0027336 (44%) |species == Mosquito; score == 253; expect == 7.3e-68; MEOW:AGgn0015300 (44%) |species == Fruitfly; gene == AnnIX; score == 252; expect == 9.9e-68; MEOW:FBgn0000083 (45%) |species == Fruitfly; gene == Anxb11; score == 252; expect == 3.0e-67; MEOW:FBgn0030749 (43%) |species == Mosquito; gene == LOC22779; score == 250; expect == 4.8e-67; MEOW:AGgn0022779 (44%) |species == Weed; gene == At1g68090; score == 195; expect == 2.4e-50; MEOW:ATgn0000148 (34%) |species == Weed; gene == At1g35720; score == 185; expect == 3.2e-47; MEOW:ATgn0005358 (36%) |species == Weed; gene == At5g10230; score == 177; expect == 8.8e-45; MEOW:ATgn0022864 (35%) |species == Weed; gene == At5g65020; score == 176; expect == 2.0e-44; MEOW:ATgn0024785 (36%) |species == Weed; gene == At5g10220; score == 172; expect == 2.2e-43; MEOW:ATgn0022863 (35%) |species == Weed; gene == At5g12380; score == 172; expect == 1.7e-43; MEOW:ATgn0031012 (33%) |species == rice; score == 171; expect == 1.4e-42; MEOW:gnl|TIGR|8351.m04943 (34%) |species == rice; score == 166; expect == 4.5e-41; MEOW:gnl|TIGR|8354.m01084 (34%) |species == rice; score == 161; expect == 8.6e-40; MEOW:gnl|TIGR|8356.m03165 (31%) |species == rice; score == 156; expect == 2.8e-38; MEOW:gnl|TIGR|8357.m01946 (37%) |species == rice; score == 149; expect == 4.4e-36; MEOW:gnl|TIGR|8353.m02757 (33%) } # EOR GENR { RETE|ID 1 HUgn0000307 CHR 1 2 DID 1 LocusLink:307 MAP 1 2p13 NAM 1 annexin A4 ORG 1 Homo sapiens SYM 1 ANXA4 ID|HUgn0000307 DID|LocusLink:307 ORG|Homo sapiens RSQ|REFSEQ:NM_001153 RPA|REFPROT:NP_001144 DBA|XM:NM_001153 |NA:AK058017 |NA:BC000182 |NA:BC011659 |NA:D78152 |NA:M19383 |NA:M82809 |NA:none PAC|XP:NP_001144 SYM|ANXA4 NAM|annexin A4 SYN|ANX4 FNC|annexin IV REAB|Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid |binding proteins. Although their functions are still not clearly defined, several |members of the annexin family have been implicated in membrane-related events along |exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members |of its family and shares a similar size and exon-intron organization. Isolated |from human placenta, ANX4 encodes a protein that has possible interactions with |ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 |activity. ANX4 is almost exclusively expressed in epithelial cells. CHR|2 PRD|placental anticoagulant protein II |annexin IV (placental anticoagulant protein II) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=307[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131395 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001153 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001153 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=422986 DBL|UNIGENE:Hs.422986 |OMIM:106491 |SNP:307 MAP|2p13 ENZ|phospholipase inhibitor activity ; GO:0004859 |calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 HG|species == rat; score == 585; expect == 1e-167; MEOW:ref|NP_077069.2| (92%) |species == Mouse; gene == Anxa4; score == 582; expect == 5e-167; MEOW:MGgn0000394 (91%) |species == Human; gene == ANXA11; score == 372; expect == 1e-103; MEOW:HUgn0000311 (57%) |species == Human; gene == ANXA5; score == 364; expect == 5e-101; MEOW:HUgn0000308 (58%) |species == Human; gene == ANXA8; score == 350; expect == 4.5e-97; MEOW:HUgn0000244 (56%) |species == Human; gene == ANXA6; score == 338; expect == 3.0e-93; MEOW:HUgn0000309 (53%) |species == Human; gene == ANXA3; score == 336; expect == 8.8e-93; MEOW:HUgn0000306 (53%) |species == Human; gene == ANXA7; score == 314; expect == 4.7e-86; MEOW:HUgn0000310 (49%) |species == Mosquito; score == 310; expect == 5.0e-85; MEOW:AGgn0025824 (52%) |species == Mosquito; score == 304; expect == 2.7e-83; MEOW:AGgn0027336 (52%) |species == Human; gene == ANXA2; score == 304; expect == 4.9e-83; MEOW:HUgn0000302 (49%) |species == Fruitfly; gene == Anxb11; score == 300; expect == 1.3e-81; MEOW:FBgn0030749 (49%) |species == Mosquito; score == 299; expect == 1.5e-81; MEOW:AGgn0029637 (50%) |species == Fruitfly; gene == AnnIX; score == 296; expect == 7.8e-81; MEOW:FBgn0000083 (51%) |species == Mosquito; score == 295; expect == 1.7e-80; MEOW:AGgn0015300 (51%) |species == Mosquito; gene == LOC15145; score == 293; expect == 3.7e-80; MEOW:AGgn0015145 (48%) |species == Mosquito; gene == LOC22779; score == 292; expect == 1.1e-79; MEOW:AGgn0022779 (50%) |species == Mosquito; gene == LOC15318; score == 287; expect == 4.5e-78; MEOW:AGgn0015318 (48%) |species == Worm; gene == nex-2; score == 285; expect == 1.2e-77; MEOW:CEgn0002148 (48%) |species == Fruitfly; gene == AnnX; score == 275; expect == 1.4e-74; MEOW:FBgn0000084 (46%) |species == Zfish; gene == anxa13; score == 263; expect == 5.1e-72; MEOW:ZFgn0002209 (45%) |species == Worm; gene == nex-1; score == 240; expect == 6.0e-64; MEOW:CEgn0002147 (41%) |species == Weed; gene == At1g68090; score == 216; expect == 1.0e-56; MEOW:ATgn0000148 (39%) |species == rice; score == 191; expect == 7.6e-49; MEOW:gnl|TIGR|8356.m03165 (35%) |species == rice; score == 191; expect == 7.6e-49; MEOW:gnl|TIGR|8357.m01946 (38%) |species == Weed; gene == At5g12380; score == 174; expect == 7.4e-44; MEOW:ATgn0031012 (34%) |species == rice; score == 172; expect == 6.3e-43; MEOW:gnl|TIGR|8354.m01084 (33%) |species == rice; score == 162; expect == 3.8e-40; MEOW:gnl|TIGR|8351.m04943 (30%) |species == rice; score == 159; expect == 3.2e-39; MEOW:gnl|TIGR|8353.m02757 (32%) } # EOR GENR { RETE|ID 1 HUgn0000308 CHR 1 4 DID 1 LocusLink:308 MAP 1 4q26-q28 NAM 1 annexin A5 ORG 1 Homo sapiens SYM 1 ANXA5 ID|HUgn0000308 DID|LocusLink:308 ORG|Homo sapiens RSQ|REFSEQ:NM_001154 RPA|REFPROT:NP_001145 DBA|XM:NM_001154 |NA:U01681 |NA:U01691 |NA:U05770 |NA:BC001429 |NA:BC004993 |NA:BC012804 |NA:BC012822 |NA:BC018671 |NA:BC032093 |NA:D00172 |NA:J03745 |NA:M18366 |NA:M19384 |NA:M21731 |NA:X12454 |NA:none PAC|XP:NP_001145 SYM|ANXA5 NAM|annexin A5 SYN|PP4 |ANX5 |ENX2 FNC|annexin 5 |blood coagulation ; GO:0007596 REAB|The protein encoded by this gene belongs to the annexin family of calcium-dependent |phospholipid binding proteins some of which have been implicated in membrane-related |events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 |and protein kinase C inhibitory protein with calcium channel activity and a potential |role in cellular signal transduction, inflammation, growth and differentiation. |Annexin 5 has also been described as placental anticoagulant protein I, vascular |anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin |CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of |approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. CHR|4 PRD|anchorin CII |endonexin II |lipocortin V |placental anticoagulant protein I URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=145741 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=308[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120555 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001154 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001154 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=145741 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24833 DBL|UNIGENE:Hs.145741 |OMIM:131230 |SNP:308 MAP|4q26-q28 ENZ|phospholipase inhibitor activity ; GO:0004859 |calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 |anticoagulant activity ; GO:0008435 HG|species == Mouse; gene == Anxa5; score == 577; expect == 2e-165; MEOW:MGgn0000395 (93%) |species == rat; score == 568; expect == 1e-162; MEOW:ref|NP_037264.1| (91%) |species == Human; gene == ANXA4; score == 364; expect == 5e-101; MEOW:HUgn0000307 (58%) |species == Human; gene == ANXA6; score == 359; expect == 1.7e-99; MEOW:HUgn0000309 (57%) |species == Human; gene == ANXA11; score == 337; expect == 4.0e-93; MEOW:HUgn0000311 (53%) |species == Human; gene == ANXA8; score == 324; expect == 3.5e-89; MEOW:HUgn0000244 (56%) |species == Human; gene == ANXA3; score == 317; expect == 7.2e-87; MEOW:HUgn0000306 (50%) |species == Human; gene == ANXA7; score == 305; expect == 2.8e-83; MEOW:HUgn0000310 (48%) |species == Mosquito; score == 295; expect == 1.3e-80; MEOW:AGgn0025824 (50%) |species == Mosquito; score == 284; expect == 2.9e-77; MEOW:AGgn0027336 (49%) |species == Mosquito; score == 276; expect == 4.7e-75; MEOW:AGgn0015300 (49%) |species == Worm; gene == nex-2; score == 275; expect == 1.3e-74; MEOW:CEgn0002148 (46%) |species == Mosquito; gene == LOC15318; score == 274; expect == 2.3e-74; MEOW:AGgn0015318 (47%) |species == Mosquito; gene == LOC22779; score == 274; expect == 3.0e-74; MEOW:AGgn0022779 (49%) |species == Fruitfly; gene == AnnIX; score == 273; expect == 5.4e-74; MEOW:FBgn0000083 (48%) |species == Fruitfly; gene == AnnX; score == 268; expect == 1.7e-72; MEOW:FBgn0000084 (46%) |species == Mosquito; gene == LOC15145; score == 264; expect == 2.4e-71; MEOW:AGgn0015145 (45%) |species == Fruitfly; gene == Anxb11; score == 256; expect == 1.6e-68; MEOW:FBgn0030749 (43%) |species == Mosquito; score == 255; expect == 1.9e-68; MEOW:AGgn0029637 (44%) |species == Zfish; gene == anxa13; score == 253; expect == 5.2e-69; MEOW:ZFgn0002209 (43%) |species == Worm; gene == nex-1; score == 227; expect == 5.2e-60; MEOW:CEgn0002147 (40%) |species == Zfish; gene == anx; score == 205; expect == 1.2e-53; MEOW:ZFgn0000523 (60%) |species == Weed; gene == At1g68090; score == 201; expect == 5.7e-52; MEOW:ATgn0000148 (38%) |species == rice; score == 179; expect == 3.0e-45; MEOW:gnl|TIGR|8356.m03165 (33%) |species == rice; score == 169; expect == 4.0e-42; MEOW:gnl|TIGR|8357.m01946 (36%) |species == rice; score == 156; expect == 3.5e-38; MEOW:gnl|TIGR|8353.m02757 (32%) |species == rice; score == 155; expect == 6.0e-38; MEOW:gnl|TIGR|8354.m01084 (30%) |species == rice; score == 151; expect == 1.1e-36; MEOW:gnl|TIGR|8351.m04943 (31%) } # EOR GENR { RETE|ID 1 HUgn0000309 CHR 1 5 DID 1 LocusLink:309 MAP 1 5q32-q34 NAM 1 annexin A6 ORG 1 Homo sapiens SYM 1 ANXA6 ID|HUgn0000309 DID|LocusLink:309 ORG|Homo sapiens RSQ|REFSEQ:NM_001155 |REFSEQ:NM_004033 RPA|REFPROT:NP_001146 |REFPROT:NP_004024 DBA|XM:NM_001155 |XM:NM_004033 |NA:X77673 |NA:BC017046 |NA:D00510 |NA:J03578 |NA:Y00097 |NA:none PAC|XP:NP_001146 |XP:NP_004024 SYM|ANXA6 NAM|annexin A6 SYN|ANX6 |CBP68 FNC|annexin VI isoform 1 |annexin VI isoform 2 REAB|Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding |proteins. Although their functions are still not clearly defined, several members |of the annexin family have been implicated in membrane-related events along exocytotic |and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains |26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino |acid repeats separated by linking sequences of variable lengths. It is highly similar |to human annexins I and II sequences, each of which contain four such repeats. |Exon 21 of annexin VI is alternatively spliced, giving rise to two isoforms that |differ by a 6-amino acid insertion at the start of the seventh repeat. Annexin |VI has been implicated in mediating the endosome aggregation and vesicle fusion |in secreting epithelia during exocytosis. CHR|5 PRD|calelectrin |calphobindin II |annexin VI (p68) |calcium-binding protein p68 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412117 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=309[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119681 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001155 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=412117 DBL|UNIGENE:Hs.412117 |OMIM:114070 |SNP:309 MAP|5q32-q34 ENZ|calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Anxa6; score == 1233; expect == 0.0; MEOW:MGgn0000397 (93%) |species == rat; score == 1233; expect == 0.0; MEOW:ref|XP_346393.1| (94%) |species == Human; gene == ANXA5; score == 359; expect == 1.7e-99; MEOW:HUgn0000308 (57%) |species == Human; gene == ANXA11; score == 356; expect == 1.5e-98; MEOW:HUgn0000311 (57%) |species == Human; gene == ANXA4; score == 338; expect == 3.0e-93; MEOW:HUgn0000307 (53%) |species == Human; gene == ANXA3; score == 322; expect == 1.3e-88; MEOW:HUgn0000306 (51%) |species == Human; gene == ANXA8; score == 308; expect == 5.0e-84; MEOW:HUgn0000244 (51%) |species == Human; gene == ANXA7; score == 300; expect == 8.7e-82; MEOW:HUgn0000310 (48%) |species == Mosquito; score == 299; expect == 1.5e-81; MEOW:AGgn0029637 (47%) |species == Mosquito; score == 296; expect == 1.8e-80; MEOW:AGgn0025824 (51%) |species == Human; gene == ANXA2; score == 293; expect == 1.6e-79; MEOW:HUgn0000302 (48%) |species == Mosquito; score == 288; expect == 5.0e-78; MEOW:AGgn0027336 (50%) |species == Human; gene == bA255A11.3; score == 288; expect == 2.3e-78; MEOW:HUgn0158177 (48%) |species == Worm; gene == nex-2; score == 282; expect == 4.5e-76; MEOW:CEgn0002148 (47%) |species == Mosquito; gene == LOC15145; score == 280; expect == 1.4e-75; MEOW:AGgn0015145 (45%) |species == Mosquito; score == 280; expect == 8.0e-76; MEOW:AGgn0015300 (49%) |species == Mosquito; gene == LOC22779; score == 279; expect == 1.8e-75; MEOW:AGgn0022779 (49%) |species == Fruitfly; gene == AnnIX; score == 279; expect == 2.5e-75; MEOW:FBgn0000083 (48%) |species == Mosquito; gene == LOC15318; score == 278; expect == 3.7e-75; MEOW:AGgn0015318 (46%) |species == Fruitfly; gene == AnnX; score == 268; expect == 2.3e-72; MEOW:FBgn0000084 (43%) |species == Fruitfly; gene == Anxb11; score == 266; expect == 2.0e-71; MEOW:FBgn0030749 (46%) |species == Zfish; gene == anxa13; score == 244; expect == 4.5e-65; MEOW:ZFgn0002209 (43%) |species == Worm; gene == nex-1; score == 234; expect == 6.2e-62; MEOW:CEgn0002147 (40%) |species == Weed; gene == At1g68090; score == 186; expect == 1.9e-47; MEOW:ATgn0000148 (34%) |species == Weed; gene == At1g35720; score == 176; expect == 1.2e-44; MEOW:ATgn0005358 (35%) |species == rice; score == 161; expect == 2.2e-39; MEOW:gnl|TIGR|8357.m01946 (33%) |species == Weed; gene == At5g12380; score == 157; expect == 7.2e-39; MEOW:ATgn0031012 (33%) |species == Weed; gene == At5g10230; score == 154; expect == 1.6e-37; MEOW:ATgn0022864 (32%) |species == Weed; gene == At5g10220; score == 152; expect == 2.3e-37; MEOW:ATgn0022863 (29%) |species == rice; score == 152; expect == 1.7e-36; MEOW:gnl|TIGR|8354.m01084 (32%) |species == rice; score == 151; expect == 3.8e-36; MEOW:gnl|TIGR|8351.m04943 (29%) |species == rice; score == 139; expect == 1.1e-32; MEOW:gnl|TIGR|8353.m02757 (28%) } # EOR GENR { RETE|ID 1 HUgn0000310 CHR 1 10 DID 1 LocusLink:310 MAP 1 10q21.1-q21.2 NAM 1 annexin A7 ORG 1 Homo sapiens SYM 1 ANXA7 ID|HUgn0000310 DID|LocusLink:310 ORG|Homo sapiens RSQ|REFSEQ:NM_001156 |REFSEQ:NM_004034 RPA|REFPROT:NP_001147 |REFPROT:NP_004025 DBA|XM:NM_001156 |XM:NM_004034 |NA:AB062429 |NA:BC001322 |NA:BC002632 |NA:BT007187 |NA:J04543 |NA:M64272 |NA:none PAC|XP:NP_001147 |XP:NP_004025 SYM|ANXA7 NAM|annexin A7 SYN|SNX |ANX7 FNC|annexin VII isoform 1 |annexin VII isoform 2 REAB|Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding |proteins. The Annexin VII gene contains 14 exons and spans approximately 34 kb of |DNA. An alternatively spliced cassette exon results in two mRNA transcripts of |2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in |their N-terminal domain. The alternative splicing event is tissue specific and |the mRNA containing the cassette exon is prevalent in brain, heart and skeletal |muscle. The transcripts also differ in their 3'-non coding regions by the use |of two alternative poly(A) signals. The selection of poly(A) signals is independent |of the mRNA splicing pattern. ~Annexin VII encodes a protein with a molecular weight |of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 |amino acids and a conserved C-terminal region of 299 amino acids. The latter domain |is composed of alternating hydrophobic and hydrophilic segments. Structural analysis |of the protein suggests that Annexin VII is a membrane binding protein with diverse |properties including voltage-sensitive calcium channel activity, ion selectivity |and membrane fusion. CHR|10 PRD|synexin |annexin VII (synexin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386741 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=310[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:369042 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004034 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004034 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=386741 DBL|UNIGENE:Hs.386741 |OMIM:186360 |SNP:310 MAP|10q21.1-q21.2 ENZ|voltage-gated calcium channel activity ; GO:0005245 |calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 |anticoagulant activity ; GO:0008435 HG|species == rat; score == 649; expect == 0.0; MEOW:ref|XP_346471.1| (93%) |species == Mouse; gene == Anxa7; score == 647; expect == 0.0; MEOW:MGgn0000398 (93%) |species == Human; gene == ANXA11; score == 374; expect == 6e-104; MEOW:HUgn0000311 (54%) |species == Mosquito; score == 321; expect == 3.5e-88; MEOW:AGgn0025824 (53%) |species == Human; gene == ANXA4; score == 314; expect == 4.7e-86; MEOW:HUgn0000307 (49%) |species == Fruitfly; gene == Anxb11; score == 311; expect == 3.8e-85; MEOW:FBgn0030749 (49%) |species == Mosquito; score == 310; expect == 6.1e-85; MEOW:AGgn0027336 (51%) |species == Human; gene == ANXA13; score == 310; expect == 1.1e-84; MEOW:HUgn0000312 (51%) |species == Mosquito; gene == LOC15318; score == 308; expect == 1.8e-84; MEOW:AGgn0015318 (50%) |species == Worm; gene == nex-2; score == 308; expect == 3.8e-84; MEOW:CEgn0002148 (45%) |species == Human; gene == ANXA8; score == 307; expect == 7.1e-84; MEOW:HUgn0000244 (51%) |species == Fruitfly; gene == AnnIX; score == 305; expect == 1.6e-83; MEOW:FBgn0000083 (50%) |species == Human; gene == ANXA5; score == 305; expect == 2.8e-83; MEOW:HUgn0000308 (48%) |species == Zfish; gene == anxa13; score == 305; expect == 1.4e-84; MEOW:ZFgn0002209 (51%) |species == Mosquito; score == 303; expect == 7.5e-83; MEOW:AGgn0015300 (50%) |species == Mosquito; gene == LOC22779; score == 301; expect == 2.9e-82; MEOW:AGgn0022779 (51%) |species == Mosquito; score == 301; expect == 3.7e-82; MEOW:AGgn0029637 (49%) |species == Human; gene == ANXA6; score == 300; expect == 8.7e-82; MEOW:HUgn0000309 (48%) |species == Mosquito; gene == LOC15145; score == 297; expect == 7.0e-81; MEOW:AGgn0015145 (48%) |species == Fruitfly; gene == AnnX; score == 297; expect == 5.6e-81; MEOW:FBgn0000084 (47%) |species == Weed; gene == At1g68090; score == 192; expect == 2.0e-49; MEOW:ATgn0000148 (36%) |species == rice; score == 188; expect == 1.4e-47; MEOW:gnl|TIGR|8356.m03165 (34%) |species == rice; score == 175; expect == 9.3e-44; MEOW:gnl|TIGR|8357.m01946 (37%) |species == Weed; gene == At1g35720; score == 174; expect == 1.2e-43; MEOW:ATgn0005358 (33%) |species == rice; score == 174; expect == 1.6e-43; MEOW:gnl|TIGR|8354.m01084 (33%) |species == Weed; gene == At5g10220; score == 169; expect == 2.4e-42; MEOW:ATgn0022863 (33%) |species == Weed; gene == At5g12380; score == 169; expect == 1.4e-42; MEOW:ATgn0031012 (33%) |species == Weed; gene == At5g10230; score == 166; expect == 1.2e-41; MEOW:ATgn0022864 (32%) |species == rice; score == 165; expect == 1.3e-40; MEOW:gnl|TIGR|8351.m04943 (31%) |species == Weed; gene == At5g65020; score == 159; expect == 1.5e-39; MEOW:ATgn0024785 (31%) } # EOR GENR { RETE|ID 1 HUgn0000311 CHR 1 10 DID 1 LocusLink:311 MAP 1 10q23 NAM 1 annexin A11 ORG 1 Homo sapiens SYM 1 ANXA11 ID|HUgn0000311 DID|LocusLink:311 ORG|Homo sapiens RSQ|REFSEQ:NM_001157 |REFSEQ:NM_145868 |REFSEQ:NM_145869 RPA|REFPROT:NP_001148 |REFPROT:NP_665875 |REFPROT:NP_665876 DBA|XM:NM_001157 |XM:NM_145868 |XM:NM_145869 |NA:AJ278463 |NA:AJ278464 |NA:AJ278465 |NA:AK000567 |NA:AK056107 |NA:AK126287 |NA:AL357617 |NA:BC007564 |NA:L19605 |NA:none PAC|XP:NP_001148 |XP:NP_665875 |XP:NP_665876 SYM|ANXA11 NAM|annexin A11 SYN|ANX11 |CAP50 FNC|annexin A11 |immune response ; GO:0006955 REAB|This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding |proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, |which contain the calcium-dependent phospholipid-binding sites. The encoded protein |is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. |Transcript variants encoding the same isoform have been identified. CHR|10 PRD|annexin XI |autoantigen, 56-kD |calcyclin-associated annexin 50 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75510 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=311[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:313076 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_145869 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_145869 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75510 DBL|UNIGENE:Hs.75510 |OMIM:602572 |SNP:311 MAP|10q23 ENZ|protein binding ; GO:0005515 |calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 CEL|nuclear membrane ; GO:0005635 |nucleoplasm ; GO:0005654 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Anxa11; score == 617; expect == 3e-177; MEOW:MGgn0000392 (94%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|XP_237959.2| (84%) |species == Human; gene == ANXA7; score == 374; expect == 6e-104; MEOW:HUgn0000310 (54%) |species == Human; gene == ANXA4; score == 372; expect == 1e-103; MEOW:HUgn0000307 (57%) |species == Human; gene == ANXA6; score == 356; expect == 1.5e-98; MEOW:HUgn0000309 (57%) |species == Human; gene == ANXA5; score == 337; expect == 4.0e-93; MEOW:HUgn0000308 (53%) |species == Human; gene == ANXA3; score == 332; expect == 2.2e-91; MEOW:HUgn0000306 (52%) |species == Human; gene == ANXA8; score == 320; expect == 1.2e-87; MEOW:HUgn0000244 (53%) |species == Fruitfly; gene == AnnIX; score == 305; expect == 3.0e-83; MEOW:FBgn0000083 (52%) |species == Mosquito; score == 301; expect == 4.1e-82; MEOW:AGgn0025824 (52%) |species == Fruitfly; gene == Anxb11; score == 301; expect == 3.3e-82; MEOW:FBgn0030749 (49%) |species == Worm; gene == nex-2; score == 296; expect == 1.2e-80; MEOW:CEgn0002148 (48%) |species == Mosquito; score == 295; expect == 2.2e-80; MEOW:AGgn0029637 (49%) |species == Mosquito; score == 293; expect == 6.6e-80; MEOW:AGgn0027336 (51%) |species == Mosquito; score == 285; expect == 2.3e-77; MEOW:AGgn0015300 (50%) |species == Mosquito; gene == LOC15318; score == 285; expect == 2.3e-77; MEOW:AGgn0015318 (48%) |species == Mosquito; gene == LOC22779; score == 284; expect == 5.2e-77; MEOW:AGgn0022779 (50%) |species == Mosquito; gene == LOC15145; score == 280; expect == 5.8e-76; MEOW:AGgn0015145 (46%) |species == Fruitfly; gene == AnnX; score == 279; expect == 1.3e-75; MEOW:FBgn0000084 (46%) |species == Zfish; gene == anxa13; score == 264; expect == 3.9e-72; MEOW:ZFgn0002209 (46%) |species == Worm; gene == nex-1; score == 241; expect == 3.6e-64; MEOW:CEgn0002147 (42%) |species == Weed; gene == At1g68090; score == 200; expect == 1.4e-51; MEOW:ATgn0000148 (36%) |species == rice; score == 193; expect == 4.8e-49; MEOW:gnl|TIGR|8356.m03165 (36%) |species == Weed; gene == At5g12380; score == 177; expect == 1.6e-44; MEOW:ATgn0031012 (34%) |species == Weed; gene == At1g35720; score == 175; expect == 2.6e-44; MEOW:ATgn0005358 (35%) |species == rice; score == 171; expect == 1.9e-42; MEOW:gnl|TIGR|8357.m01946 (35%) |species == Weed; gene == At5g10230; score == 166; expect == 1.2e-41; MEOW:ATgn0022864 (33%) |species == Weed; gene == At5g10220; score == 161; expect == 3.8e-40; MEOW:ATgn0022863 (33%) |species == Weed; gene == At5g65020; score == 160; expect == 1.6e-39; MEOW:ATgn0024785 (33%) |species == rice; score == 159; expect == 7.6e-39; MEOW:gnl|TIGR|8354.m01084 (30%) } # EOR GENR { RETE|ID 1 HUgn0000312 CHR 1 8 DID 1 LocusLink:312 MAP 1 8q24.1-q24.2 NAM 1 annexin A13 ORG 1 Homo sapiens SYM 1 ANXA13 ID|HUgn0000312 DID|LocusLink:312 ORG|Homo sapiens RSQ|REFSEQ:NM_004306 RPA|REFPROT:NP_004297 DBA|XM:NM_004306 |NA:AJ306450 |NA:Z11502 |NA:none PAC|XP:NP_004297 SYM|ANXA13 NAM|annexin A13 SYN|ISA |ANX13 FNC|annexin A13 |cell differentiation ; GO:0030154 REAB|This gene encodes a member of the annexin family. Members of this calcium-dependent |phospholipid-binding protein family play a role in the regulation of cellular growth |and in signal transduction pathways. The specific function of this gene has not |yet been determined; however, it is associated with the plasma membrane of undifferentiated, |proliferating endothelial cells and differentiated villus enterocytes. CHR|8 PRD|annexin XIII |annexin, intestine-specific URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=312[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836021 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004306 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004306 DBL|UNIGENE:Hs.181107 |OMIM:602573 |SNP:312 MAP|8q24.1-q24.2 ENZ|calcium-dependent phospholipid binding ; GO:0005544 |calcium ion binding ; GO:0005509 |anticoagulant activity ; GO:0008435 CEL|plasma membrane ; GO:0005886 HG|species == Mouse; gene == Anxa13; score == 534; expect == 2e-152; MEOW:MGgn0018707 (86%) |species == rat; score == 510; expect == 7e-145; MEOW:ref|XP_343246.1| (81%) |species == Zfish; gene == anxa13; score == 335; expect == 1.9e-92; MEOW:ZFgn0002209 (54%) |species == Human; gene == ANXA7; score == 310; expect == 1.1e-84; MEOW:HUgn0000310 (51%) |species == Human; gene == ANXA4; score == 292; expect == 2.5e-79; MEOW:HUgn0000307 (46%) |species == Mosquito; score == 283; expect == 6.8e-77; MEOW:AGgn0025824 (48%) |species == Mosquito; score == 282; expect == 1.5e-76; MEOW:AGgn0027336 (49%) |species == Mosquito; gene == LOC15318; score == 280; expect == 5.8e-76; MEOW:AGgn0015318 (45%) |species == Human; gene == ANXA6; score == 278; expect == 7.2e-75; MEOW:HUgn0000309 (45%) |species == Mosquito; score == 275; expect == 1.0e-74; MEOW:AGgn0015300 (48%) |species == Fruitfly; gene == AnnIX; score == 275; expect == 1.8e-74; MEOW:FBgn0000083 (50%) |species == Fruitfly; gene == Anxb11; score == 275; expect == 3.4e-74; MEOW:FBgn0030749 (46%) |species == Mosquito; gene == LOC22779; score == 274; expect == 4.2e-74; MEOW:AGgn0022779 (48%) |species == Human; gene == ANXA11; score == 273; expect == 9.0e-74; MEOW:HUgn0000311 (48%) |species == Mosquito; score == 272; expect == 2.0e-73; MEOW:AGgn0029637 (44%) |species == Mosquito; gene == LOC15145; score == 271; expect == 3.5e-73; MEOW:AGgn0015145 (44%) |species == Human; gene == ANXA8; score == 270; expect == 1.0e-72; MEOW:HUgn0000244 (49%) |species == Worm; gene == nex-2; score == 269; expect == 3.0e-72; MEOW:CEgn0002148 (46%) |species == Human; gene == ANXA5; score == 266; expect == 1.5e-71; MEOW:HUgn0000308 (45%) |species == Fruitfly; gene == AnnX; score == 257; expect == 6.8e-69; MEOW:FBgn0000084 (42%) |species == Worm; gene == nex-1; score == 245; expect == 3.5e-65; MEOW:CEgn0002147 (40%) |species == Weed; gene == At1g68090; score == 208; expect == 2.7e-54; MEOW:ATgn0000148 (37%) |species == Weed; gene == At1g35720; score == 194; expect == 4.1e-50; MEOW:ATgn0005358 (38%) |species == rice; score == 189; expect == 4.8e-48; MEOW:gnl|TIGR|8356.m03165 (35%) |species == rice; score == 189; expect == 4.8e-48; MEOW:gnl|TIGR|8357.m01946 (40%) |species == Weed; gene == At5g65020; score == 185; expect == 3.2e-47; MEOW:ATgn0024785 (38%) |species == Weed; gene == At5g12380; score == 184; expect == 4.2e-47; MEOW:ATgn0031012 (35%) |species == Weed; gene == At5g10220; score == 181; expect == 4.7e-46; MEOW:ATgn0022863 (36%) |species == Weed; gene == At5g10230; score == 178; expect == 3.0e-45; MEOW:ATgn0022864 (35%) |species == rice; score == 171; expect == 1.0e-42; MEOW:gnl|TIGR|8354.m01084 (36%) |species == rice; score == 164; expect == 9.8e-41; MEOW:gnl|TIGR|8351.m04943 (34%) } # EOR GENR { RETE|ID 1 HUgn0000313 CHR 1 7 DID 1 LocusLink:313 MAP 1 7p14-p12 NAM 1 acyloxyacyl hydrolase (neutrophil) ORG 1 Homo sapiens SYM 1 AOAH ID|HUgn0000313 DID|LocusLink:313 ORG|Homo sapiens RSQ|REFSEQ:NM_001637 RPA|REFPROT:NP_001628 DBA|XM:NM_001637 |XM:NM_001637 |NA:BC025698 |NA:M62840 |NA:none PAC|XP:NP_001628 |XP:NP_001628 SYM|AOAH NAM|acyloxyacyl hydrolase (neutrophil) FNC|acyloxyacyl hydrolase precursor |lipid metabolism ; GO:0006629 |inflammatory response ; GO:0006954 REAB|Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the |secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial |endotoxins. AOAH may modulate host inflammatory responses to gram-negative bacterial |invasion. The 2 subunits are encoded by a single mRNA. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82542 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=313[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134007 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001637 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001637 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82542 DBL|UNIGENE:Hs.82542 |OMIM:102593 |SNP:313 ENZ|EC:3.-.-.- |lipoprotein lipase activity ; GO:0004465 |hydrolase activity ; GO:0016787 |acyloxyacyl hydrolase activity ; GO:0050528 MAP|7p14-p12 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Aoah; score == 946; expect == 0.0; MEOW:MGgn0000402 (76%) |species == rat; score == 385; expect == 2e-107; MEOW:ref|XP_341532.1| (66%) } # EOR GENR { RETE|ID 1 HUgn0000314 CHR 1 17 DID 1 LocusLink:314 MAP 1 17q21 NAM 1 amine oxidase, copper containing 2 (retina-specific) ORG 1 Homo sapiens SYM 1 AOC2 ID|HUgn0000314 DID|LocusLink:314 ORG|Homo sapiens RSQ|REFSEQ:NM_001158 |REFSEQ:NM_009590 RPA|REFPROT:NP_001149 |REFPROT:NP_033720 DBA|XM:NM_001158 |XM:NM_009590 |NA:AB012942 |NA:AB012943 |NA:AF081363 |NA:D88213 |NA:none PAC|XP:NP_001149 |XP:NP_033720 SYM|AOC2 NAM|amine oxidase, copper containing 2 (retina-specific) SYN|RAO |DAO2 FNC|copper containing amine oxidase isoform a |copper containing amine oxidase isoform b |catecholamine metabolism ; GO:0006584 |vision ; GO:0007601 REAB|Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and |ammonia in the presence of copper and quinone cofactor. This gene shows high sequence |similarity to copper amine oxidases from various species ranging from bacteria to |mammals. The protein contains several conserved motifs including the active site |of amine oxidases and the histidine residues that likely bind copper. It may be |a critical modulator of signal transmission in retina, possibly by degrading the |biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate |gene for hereditary ocular diseases. CHR|17 PRD|Amine oxidase, copper-containing, 2 |copper containing 2 (retina-specific) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=143102 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=314[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4562632 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_009590 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_009590 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00960 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.143102 |OMIM:602268 |SNP:314 ENZ|EC:1.4.3.6 |amine oxidase (copper-containing) activity ; GO:0008122 |copper ion binding ; GO:0005507 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|17q21 HG|species == Mouse; gene == Aoc2; score == 1134; expect == 0.0; MEOW:MGgn0042108 (77%) |species == Human; gene == AOC3; score == 939; expect == 0.0; MEOW:HUgn0008639 (62%) |species == rat; score == 884; expect == 0.0; MEOW:ref|XP_220990.2| (61%) } # EOR GENR { RETE|ID 1 HUgn0000315 CHR 1 12 DID 1 LocusLink:315 MAP 1 12q14 NAM 1 arthroophthalmopathy, progressive (Stickler syndrome) ORG 1 Homo sapiens SYM 1 AOM ID|HUgn0000315 DID|LocusLink:315 ORG|Homo sapiens SYM|AOM NAM|arthroophthalmopathy, progressive (Stickler syndrome) CHR|12 DBL|OMIM:108300 MAP|12q14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118998 |http://www.geneclinics.org/query?mim=108300 } # EOR GENR { RETE|ID 1 HUgn0000316 CHR 1 2 DID 1 LocusLink:316 MAP 1 2q33 NAM 1 aldehyde oxidase 1 ORG 1 Homo sapiens SYM 1 AOX1 ID|HUgn0000316 DID|LocusLink:316 ORG|Homo sapiens RSQ|REFSEQ:NM_001159 RPA|REFPROT:NP_001150 DBA|XM:NM_001159 |NA:AF017060 |NA:AB046692 |NA:L11005 |NA:none PAC|XP:NP_001150 SYM|AOX1 NAM|aldehyde oxidase 1 SYN|AO |AOH1 FNC|aldehyde oxidase 1 |electron transport ; GO:0006118 |oxygen and reactive oxygen species metabolism ; GO:0006800 |inflammatory response ; GO:0006954 REAB|Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze |the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic |lateral sclerosis. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406238 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=316[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5779120 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001159 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001159 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00750 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.406238 |OMIM:602841 |SNP:316 ENZ|EC:1.2.3.1 |aldehyde oxidase activity ; GO:0004031 |xanthine dehydrogenase activity ; GO:0004854 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 |molybdenum ion binding ; GO:0030151 MAP|2q33 HG|species == rat; score == 2194; expect == 0.0; MEOW:ref|NP_062236.2| (81%) |species == Mouse; gene == Aox1; score == 2187; expect == 0.0; MEOW:MGgn0000411 (82%) |species == Human; gene == XDH; score == 1263; expect == 0.0; MEOW:HUgn0007498 (49%) |species == Fruitfly; gene == ry; score == 1135; expect == 0.0; MEOW:FBgn0003308 (44%) |species == Mosquito; gene == LOC25172; score == 1127; expect == 0.0; MEOW:AGgn0025172 (44%) |species == Mosquito; gene == LOC9930; score == 1099; expect == 0.0; MEOW:AGgn0009930 (44%) |species == Worm; gene == F55B11.1; score == 972; expect == 0.0; MEOW:CEgn0011893 (40%) |species == Weed; gene == At4g34890; score == 917; expect == 0.0; MEOW:ATgn0019824 (40%) |species == Weed; gene == At4g34900; score == 910; expect == 0.0; MEOW:ATgn0019825 (40%) |species == rice; score == 909; expect == 0.0; MEOW:gnl|TIGR|8360.m02865 (41%) |species == ecoli; score == 170; expect == 5.1e-43; MEOW:ref|NP_417342.1| (25%) } # EOR GENR { RETE|ID 1 HUgn0000317 CHR 1 12 DID 1 LocusLink:317 MAP 1 12q23 NAM 1 apoptotic protease activating factor ORG 1 Homo sapiens SYM 1 APAF1 ID|HUgn0000317 DID|LocusLink:317 ORG|Homo sapiens RSQ|REFSEQ:NM_001160 |REFSEQ:NM_013229 |REFSEQ:NM_181861 |REFSEQ:NM_181868 |REFSEQ:NM_181869 RPA|REFPROT:NP_001151 |REFPROT:NP_037361 |REFPROT:NP_863651 |REFPROT:NP_863658 |REFPROT:NP_863659 DBA|XM:NM_001160 |XM:NM_013229 |XM:NM_181861 |XM:NM_181868 |XM:NM_181869 |NA:AB007873 |NA:AB103079 |NA:AF013263 |NA:AF134397 |NA:AF149794 |NA:AF248734 |NA:AJ243003 |NA:AJ243004 |NA:AJ243005 |NA:AJ243006 |NA:AJ243007 |NA:AJ243008 |NA:AJ243009 |NA:AJ243010 |NA:AJ243011 |NA:AJ243048 |NA:AJ243107 |NA:none PAC|XP:NP_001151 |XP:NP_037361 |XP:NP_863651 |XP:NP_863658 |XP:NP_863659 SYM|APAF1 NAM|apoptotic protease activating factor SYN|CED4 FNC|apoptotic protease activating factor isoform a |apoptotic protease activating factor isoform b |apoptotic protease activating factor isoform c |apoptotic protease activating factor isoform d |apoptotic protease activating factor isoform e |neurogenesis ; GO:0007399 |apoptosis ; GO:0006915 REAB|This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains |several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an |ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an |oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, |releasing its mature, activated form. Activated caspase 9 stimulates the subsequent |caspase cascade that commits the cell to apoptosis. Alternative splicing results |in several transcript variants encoding different isoforms. CHR|12 PRD|apoptotic protease activating factor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=373575 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=317[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9798394 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_181861 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_181861 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.373575 |OMIM:602233 |SNP:317 MAP|12q23 ENZ|caspase activator activity ; GO:0008656 |ATP binding ; GO:0005524 |apoptosis regulator activity ; GO:0016329 CEL|cytosol ; GO:0005829 |intracellular ; GO:0005622 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Apaf1; score == 2146; expect == 0.0; MEOW:MGgn0000433 (84%) |species == rat; score == 2144; expect == 0.0; MEOW:ref|NP_076469.1| (83%) |species == Zfish; gene == apaf1; score == 1350; expect == 0.0; MEOW:ZFgn0000907 (53%) } # EOR GENR { RETE|ID 1 HUgn0000318 CHR 1 9 DID 1 LocusLink:318 MAP 1 9p13 NAM 1 nudix (nucleoside diphosphate linked moiety X)-type motif 2 ORG 1 Homo sapiens SYM 1 NUDT2 ID|HUgn0000318 DID|LocusLink:318 ORG|Homo sapiens RSQ|REFSEQ:NM_001161 |REFSEQ:NM_147172 |REFSEQ:NM_147173 RPA|REFPROT:NP_001152 |REFPROT:NP_671701 |REFPROT:NP_671702 DBA|XM:NM_001161 |XM:NM_147172 |XM:NM_147173 |NA:AA398857 |NA:BC004926 |NA:BG622439 |NA:BM802700 |NA:U30313 |NA:none PAC|XP:NP_001152 |XP:NP_671701 |XP:NP_671702 SYM|NUDT2 NAM|nudix (nucleoside diphosphate linked moiety X)-type motif 2 SYN|APAH1 |MGC10404 FNC|nudix-type motif 2 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 REAB|This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset |of the larger NUDIX hydrolase family. The gene product possesses a modification |of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme |asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining |the intracellular level of the dinucleotide Ap4A, the function of which has yet |to be established. This gene may be a candidate tumor suppressor gene. Alternative |splicing has been observed at this locus and three transcript variants, all encoding |the same protein, have been identified. CHR|9 PRD|Ap4Aase |NUDIX motif 2 |Ap4A hydrolase 1 |diadenosine tetraphosphatase |bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) |diadenosine 5',5"'-P1,P4-tetraphosphate pyrophosphohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429142 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=318[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6054177 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001161 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001161 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=429142 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.429142 |OMIM:602852 |SNP:318 ENZ|EC:3.6.1.17 |bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity ; GO:0008803 |bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity ; GO:0004081 |hydrolase activity ; GO:0016787 MAP|9p13 HG|species == Mouse; gene == Nudt2; score == 273; expect == 2.2e-74; MEOW:MGgn0019978 (89%) |species == rat; score == 270; expect == 2.7e-73; MEOW:ref|XP_216370.1| (87%) } # EOR GENR { RETE|ID 1 HUgn0000319 CHR 1 12 DID 1 LocusLink:319 MAP 1 12q13.13 NAM 1 apolipoprotein F ORG 1 Homo sapiens SYM 1 APOF ID|HUgn0000319 DID|LocusLink:319 ORG|Homo sapiens RSQ|REFSEQ:NM_001638 RPA|REFPROT:NP_001629 DBA|XM:NM_001638 |NA:BC026257 |NA:L27050 |NA:none PAC|XP:NP_001629 SYM|APOF NAM|apolipoprotein F FNC|apolipoprotein F |lipid transport ; GO:0006869 |cholesterol metabolism ; GO:0008203 |lipid metabolism ; GO:0006629 REAB|Apolipoprotein F (APOF) is one of the minor apolipoproteins found in plasma. APOF |forms complexes with lipoproteins and may be involved in transport and/or esterification |of cholesterol. CHR|12 PRD|apolipoprrotein F URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2388 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=319[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:391034 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001638 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001638 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2388 DBL|UNIGENE:Hs.2388 |OMIM:107760 |SNP:319 MAP|12q13.13 ENZ|cholesterol binding ; GO:0015485 |high-density lipoprotein binding ; GO:0008035 |receptor binding ; GO:0005102 |lipid transporter activity ; GO:0005319 CEL|integral to membrane ; GO:0016021 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Apof; score == 370; expect == 4e-103; MEOW:MGgn0000468 (61%) } # EOR GENR { RETE|ID 1 HUgn0000320 CHR 1 9 DID 1 LocusLink:320 MAP 1 9q13-q21.1 NAM 1 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) ORG 1 Homo sapiens SYM 1 APBA1 ID|HUgn0000320 DID|LocusLink:320 ORG|Homo sapiens RSQ|REFSEQ:NM_001163 RPA|REFPROT:NP_001154 DBA|XM:NM_001163 |NA:Z32676 |NA:AF029106 |NA:AF047347 |NA:L04953 |NA:none PAC|XP:NP_001154 SYM|APBA1 NAM|amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) SYN|X11 |X11A |MINT1 |D9S411E |X11ALPHA FNC|amyloid beta A4 precursor protein-binding, family A, member 1 |axon cargo transport ; GO:0008088 |intracellular protein transport ; GO:0006886 |synaptic transmission ; GO:0007268 |cell adhesion ; GO:0007155 |neurogenesis ; GO:0007399 |protein complex assembly ; GO:0006461 REAB|The protein encoded by this gene is a member of the X11 protein family. It is a neuronal |adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein |(APP). It stabilises APP and inhibits production of proteolytic APP fragments including |the A beta peptide that is deposited in the brains of Alzheimer's disease patients. |This gene product is believed to be involved in signal transduction processes. It |is also regarded as a putative vesicular trafficking protein in the brain that can |form a complex with the potential to couple synaptic vesicle exocytosis to neuronal |cell adhesion. CHR|9 PRD|adaptor protein X11alpha |neuron-specific X11 protein |neuronal munc18-1-interacting protein 1 |phosphotyrosine-binding/-interacting domain (PTB)-bearing protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4880 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=320[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6277905 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001163 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001163 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 DBL|UNIGENE:Hs.4880 |OMIM:602414 |SNP:320 MAP|9q13-q21.1 ENZ|protein transporter activity ; GO:0008565 |protein binding ; GO:0005515 CEL|synaptic vesicle ; GO:0008021 HG|species == rat; score == 1439; expect == 0.0; MEOW:ref|NP_113967.1| (93%) |species == Mouse; gene == 6430513E09Rik; score == 818; expect == 0.0; MEOW:MGgn0041023 (99%) |species == Human; gene == APBA2; score == 705; expect == 0.0; MEOW:HUgn0000321 (60%) |species == Fruitfly; gene == X11L; score == 469; expect == 2e-132; MEOW:FBgn0026313 (60%) |species == Mosquito; score == 468; expect == 2e-132; MEOW:AGgn0020739 (62%) |species == Mosquito; gene == LOC23682; score == 464; expect == 3e-131; MEOW:AGgn0023682 (62%) |species == Fruitfly; gene == CG32677; score == 464; expect == 1e-130; MEOW:FBgn0052677 (63%) |species == Worm; gene == lin-10; score == 445; expect == 4e-125; MEOW:CEgn0001829 (59%) } # EOR GENR { RETE|ID 1 HUgn0000321 CHR 1 15 DID 1 LocusLink:321 MAP 1 15q11-q12 NAM 1 amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) ORG 1 Homo sapiens SYM 1 APBA2 ID|HUgn0000321 DID|LocusLink:321 ORG|Homo sapiens RSQ|REFSEQ:NM_005503 RPA|REFPROT:NP_005494 DBA|XM:NM_005503 |NA:AB014719 |NA:AF029108 |NA:AF047348 |NA:BC007794 |NA:U79255 |NA:none PAC|XP:NP_005494 SYM|APBA2 NAM|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) SYN|X11L |MINT2 |LIN-10 |D15S1518E |MGC:14091 FNC|amyloid beta A4 precursor protein-binding, family A, member 2 |pathogenesis ; GO:0009405 |neurogenesis ; GO:0007399 REAB|The protein encoded by this gene is a member of the X11 protein family. It is a neuronal |adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein |(APP). It stabilises APP and inhibits production of proteolytic APP fragments including |the A beta peptide that is deposited in the brains of Alzheimer's disease patients. |This gene product is believed to be involved in signal transduction processes. It |is also regarded as a putative vesicular trafficking protein in the brain that can |form a complex with the potential to couple synaptic vesicle exocytosis to neuronal |cell adhesion. CHR|15 PRD|X11-like protein |adapter protein X11beta |neuron-specific X11L protein |neuronal munc18-1-interacting protein 2 |amyloid beta A4 precursor protein-binding, family A, member 2 |phosphotyrosine-binding/-interacting domain (PTB)-bearing protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26468 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=321[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6277907 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005503 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005503 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26468 DBL|UNIGENE:Hs.26468 |OMIM:602712 |SNP:321 MAP|15q11-q12 ENZ|amyloid protein ; GO:0005208 |protein binding ; GO:0005515 HG|species == rat; score == 1309; expect == 0.0; MEOW:ref|NP_113968.1| (92%) |species == Human; gene == APBA1; score == 705; expect == 0.0; MEOW:HUgn0000320 (60%) |species == Mouse; gene == 6430513E09Rik; score == 679; expect == 0.0; MEOW:MGgn0041023 (82%) |species == Mosquito; score == 466; expect == 1e-131; MEOW:AGgn0020739 (62%) |species == Mosquito; gene == LOC23682; score == 464; expect == 3e-131; MEOW:AGgn0023682 (62%) |species == Fruitfly; gene == X11L; score == 464; expect == 6e-131; MEOW:FBgn0026313 (60%) |species == Fruitfly; gene == CG32677; score == 460; expect == 2e-129; MEOW:FBgn0052677 (62%) |species == Worm; gene == lin-10; score == 444; expect == 8e-125; MEOW:CEgn0001829 (59%) } # EOR GENR { RETE|ID 1 HUgn0000322 CHR 1 11 DID 1 LocusLink:322 MAP 1 11p15 NAM 1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) ORG 1 Homo sapiens SYM 1 APBB1 ID|HUgn0000322 DID|LocusLink:322 ORG|Homo sapiens RSQ|REFSEQ:NM_001164 |REFSEQ:NM_145689 RPA|REFPROT:NP_001155 |REFPROT:NP_663722 DBA|XM:NM_001164 |XM:NM_145689 |NA:AF029233 |NA:AF029234 |NA:AF047835 |NA:AF394214 |NA:BC010854 |NA:BX538185 |NA:L77864 |NA:none PAC|XP:NP_001155 |XP:NP_663722 SYM|APBB1 NAM|amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) SYN|RIR |FE65 |MGC:9072 FNC|amyloid beta A4 precursor protein-binding, family B, member 1 isoform E9 |amyloid beta A4 precursor protein-binding, family B, member 1 isoform delta E9 |signal transduction ; GO:0007165 REAB|The protein encoded by this gene is a member of the Fe65 protein family. It is an |adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease |amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density |lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site |that can prevent the gene product's nuclear translocation. This encoded protein |could play an important role in the pathogenesis of Alzheimer's disease. It is thought |to regulate transcription. Also it is observed to block cell cycle progression by |downregulating thymidylate synthase expression. Multiple alternatively spliced transcript |variants have been described for this gene but some of their full length sequence |is not known. CHR|11 PRD|stat-like protein |adaptor protein FE65a2 |amyloid beta A4 precursor protein-binding, family B, member 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=378063 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=322[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5952607 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001164 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001164 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=378063 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 DBL|UNIGENE:Hs.378063 |OMIM:602709 |SNP:322 |UWCM:5952607.html MAP|11p15 ENZ|protein C-terminus binding ; GO:0008022 |amyloid protein ; GO:0005208 |signal transducer activity ; GO:0004871 HG|species == rat; score == 1278; expect == 0.0; MEOW:ref|NP_536726.1| (93%) |species == Mouse; gene == Apbb1; score == 1223; expect == 0.0; MEOW:MGgn0000435 (94%) |species == Mouse; gene == Apbb2; score == 589; expect == 2e-168; MEOW:MGgn0000437 (46%) |species == rat; score == 398; expect == 4e-111; MEOW:ref|XP_223399.2| (57%) |species == Human; gene == APBB2; score == 397; expect == 6e-111; MEOW:HUgn0000323 (62%) |species == Human; gene == APBB3; score == 330; expect == 8.4e-91; MEOW:HUgn0010307 (40%) |species == rat; score == 329; expect == 1.9e-90; MEOW:ref|NP_446409.1| (41%) |species == Mosquito; gene == LOC13720; score == 295; expect == 3.9e-80; MEOW:AGgn0013720 (40%) |species == Worm; gene == feh-1; score == 235; expect == 7.2e-62; MEOW:CEgn0030919 (35%) } # EOR GENR { RETE|ID 1 HUgn0000323 CHR 1 4 DID 1 LocusLink:323 MAP 1 4p14 NAM 1 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) ORG 1 Homo sapiens SYM 1 APBB2 ID|HUgn0000323 DID|LocusLink:323 ORG|Homo sapiens RSQ|REFSEQ:NM_173075 RPA|REFPROT:NP_775098 DBA|XM:NM_173075 |NA:AK024871 |NA:BC027946 |NA:none PAC|XP:NP_775098 SYM|APBB2 NAM|amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) SYN|FE65L |FE65L1 |MGC35575 FNC|amyloid beta A4 precursor protein-binding, family B, member 2 REAB|The protein encoded by this gene interacts with the cytoplasmic domains of amyloid |beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This |protein contains two phosphotyrosine binding (PTB) domains, which are thought to |function in signal transduction. CHR|4 PRD|Fe65-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324125 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=323[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278609 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_173075 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_173075 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324125 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24874 DBL|UNIGENE:Hs.324125 |OMIM:602710 |SNP:323 MAP|4p14 HG|species == Mouse; gene == Apbb2; score == 606; expect == 1e-173; MEOW:MGgn0000437 (95%) |species == rat; score == 541; expect == 2e-154; MEOW:ref|XP_223399.2| (96%) |species == Human; gene == APBB1; score == 397; expect == 6e-111; MEOW:HUgn0000322 (62%) |species == Mosquito; gene == LOC13720; score == 280; expect == 4.4e-76; MEOW:AGgn0013720 (50%) |species == Worm; gene == feh-1; score == 231; expect == 2.2e-61; MEOW:CEgn0030919 (41%) } # EOR GENR { RETE|ID 1 HUgn0000324 CHR 1 5 DID 1 LocusLink:324 MAP 1 5q21-q22 NAM 1 adenomatosis polyposis coli ORG 1 Homo sapiens SYM 1 APC ID|HUgn0000324 DID|LocusLink:324 ORG|Homo sapiens RSQ|REFSEQ:NM_000038 RPA|REFPROT:NP_000029 DBA|XM:NM_000038 |NA:M73548 |NA:M74088 |NA:none PAC|XP:NP_000029 SYM|APC NAM|adenomatosis polyposis coli SYN|GS |DP2 |DP3 |FAP |FPC |DP2.5 FNC|adenomatosis polyposis coli |cell adhesion ; GO:0007155 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 |negative regulation of cell cycle ; GO:0045786 REAB|The metabolic function of the APC gene is not known. Defects in this gene cause |familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease |that usually progresses to malignancy. Disease-associated mutations tend to be |clustered in a small region designated the mutation cluster region (MCR) and result |in a truncated protein product. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75081 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=324[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119682 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000038 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000038 |http://www.geneclinics.org/query?mim=175100 |http://perso.curie.fr/Thierry.Soussi/APC.html DBL|UNIGENE:Hs.75081 |OMIM:175100 |SNP:324 |UWCM:119682.html MAP|5q21-q22 PHP|Adenoma, periampullary |Adenomatous polyposis coli |Adenomatous polyposis coli, attenuated |Colorectal cancer |Desmoid disease, hereditary |Gardner syndrome |Gastric cancer |Turcot syndrome ENZ|beta-catenin binding ; GO:0008013 HG|species == rat; score == 4234; expect == 0.0; MEOW:ref|NP_036631.1| (89%) |species == Mouse; gene == Apc; score == 4207; expect == 0.0; MEOW:MGgn0000439 (89%) |species == Human; gene == APCL; score == 793; expect == 0.0; MEOW:HUgn0010297 (51%) |species == Fruitfly; gene == Apc; score == 474; expect == 2e-133; MEOW:FBgn0015589 (53%) |species == Mosquito; score == 279; expect == 1.1e-74; MEOW:AGgn0017433 (44%) |species == Worm; gene == apr-1; score == 142; expect == 1.5e-33; MEOW:CEgn0000070 (29%) } # EOR GENR { RETE|ID 1 HUgn0000325 CHR 1 1 DID 1 LocusLink:325 MAP 1 1q21-q23 NAM 1 amyloid P component, serum ORG 1 Homo sapiens SYM 1 APCS ID|HUgn0000325 DID|LocusLink:325 ORG|Homo sapiens RSQ|REFSEQ:NM_001639 RPA|REFPROT:NP_001630 DBA|XM:NM_001639 |NA:D00097 |NA:BC007039 |NA:BC007058 |NA:M10944 |NA:X04608 |NA:none PAC|XP:NP_001630 SYM|APCS NAM|amyloid P component, serum SYN|SAP |PTX2 FNC|serum amyloid P component precursor |protein complex assembly, multichaperone pathway ; GO:0006462 |pathogenesis ; GO:0009405 |DNA packaging ; GO:0006323 |protein folding ; GO:0006457 |heterophilic cell adhesion ; GO:0007157 REAB|The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family |of proteins, which has a characteristic pentameric organization. These family members |have considerable sequence homology which is thought to be the result of gene duplication. |The binding of the encoded protein to proteins in the pathological amyloid cross-beta |fold suggests its possible role as a chaperone. This protein is also thought to |control the degradation of chromatin. It has been demonstrated that this protein |binds to apoptotic cells at an early stage, which raises the possibility that it |is involved in dealing with apoptotic cells in vivo. This gene has multiple polyadenylation |sites. CHR|1 PRD|pentaxin-related |9.5S alpha-1-glycoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1957 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=325[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118999 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001639 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001639 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1957 DBL|UNIGENE:Hs.1957 |OMIM:104770 |SNP:325 MAP|1q21-q23 PHP|?Amyloidosis, secondary, susceptibility to ENZ|acute-phase response protein activity ; GO:0003794 |sugar binding ; GO:0005529 |chaperone activity ; GO:0003754 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 325; expect == 9.1e-90; MEOW:ref|NP_058866.1| (70%) |species == Mouse; gene == Apcs; score == 316; expect == 4.8e-87; MEOW:MGgn0010614 (68%) |species == Human; gene == CRP; score == 210; expect == 4.2e-55; MEOW:HUgn0001401 (47%) |species == Human; gene == LOC127150; score == 189; expect == 7.6e-49; MEOW:HUgn0127150 (45%) } # EOR GENR { RETE|ID 1 HUgn0000326 CHR 1 21 DID 1 LocusLink:326 MAP 1 21q22.3 NAM 1 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) ORG 1 Homo sapiens SYM 1 AIRE ID|HUgn0000326 DID|LocusLink:326 ORG|Homo sapiens RSQ|REFSEQ:NM_000383 |REFSEQ:NM_000658 |REFSEQ:NM_000659 RPA|REFPROT:NP_000374 |REFPROT:NP_000649 |REFPROT:NP_000650 DBA|XM:NM_000383 |XM:NM_000658 |XM:NM_000659 |NA:AB006684 |NA:AJ009610 |NA:AB006682 |NA:AB006683 |NA:AB006685 |NA:Z97990 |NA:none PAC|XP:NP_000374 |XP:NP_000649 |XP:NP_000650 SYM|AIRE NAM|autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) SYN|APS1 |APSI |PGA1 |APECED FNC|autoimmune regulator AIRE isoform 1 |autoimmune regulator AIRE isoform 2 |autoimmune regulator AIRE isoform 3 |humoral immune response ; GO:0006959 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The function of the protein encoded by this gene is not well defined, however it |contains zinc finger motifs suggestive of a transcription factor. The protein (isoform |1) is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products |have been described [1]. The longer AIRE-1 mRNA appears to be more abundant and |includes exons 1 through 14. Splice variant AIRE-2 includes a portion of the non-coding |region of exon 1, an alternatively spliced longer exon 8, plus exons 9 through 14. |Variant AIRE-3 includes the same exon 1-8-9 sequences as found in AIRE-2 but utilizes |additional alternative splicing in exon 10 that shifts the reading frame such that |a stop codon in exon 12 is utilized. The resulting protein products of these splice |variants are differ significantly. Defects in this gene cause the autosomal-recessive |systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal |dystrophy (APECED). CHR|21 PRD|AIRE protein |APECED protein |autoimmune regulator (automimmune polyendocrinopathy candidiasis ectodermal dystrophy) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129829 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=326[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:567198 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000383 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000383 |http://www.geneclinics.org/query?mim=240300 |http://www.ncbi.nlm.nih.gov/disease/APS.html DBL|UNIGENE:Hs.129829 |OMIM:607358 |SNP:326 MAP|21q22.3 PHP|Autoimmune polyglandular disease, type I ENZ|molecular_function unknown ; GO:0005554 |transcription factor activity ; GO:0003700 |translation regulator activity ; GO:0045182 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Aire; score == 725; expect == 0.0; MEOW:MGgn0000274 (70%) |species == rat; score == 683; expect == 0.0; MEOW:ref|XP_228067.2| (67%) } # EOR GENR { RETE|ID 1 HUgn0000327 CHR 1 3 DID 1 LocusLink:327 MAP 1 3p21.31 NAM 1 N-acylaminoacyl-peptide hydrolase ORG 1 Homo sapiens SYM 1 APEH ID|HUgn0000327 DID|LocusLink:327 ORG|Homo sapiens RSQ|REFSEQ:NM_001640 RPA|REFPROT:NP_001631 DBA|XM:NM_001640 |NA:AF141383 |NA:BC000362 |NA:BC001499 |NA:BC001826 |NA:D38441 |NA:none PAC|XP:NP_001631 SYM|APEH NAM|N-acylaminoacyl-peptide hydrolase SYN|APH |OPH |ACPH |D3S48E |MGC2178 FNC|N-acylaminoacyl-peptide hydrolase REAB|This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis |of the terminal acetylated amino acid preferentially from small acetylated peptides. |The acetyl amino acid formed by this hydrolase is further processed to acetate and |a free amino acid by an aminoacylase. This gene is located within the same region |of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are |also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase |is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino |acid residues. It can play an important role in destroying oxidatively damaged proteins |in living cells. Deletions of this gene locus are found in various types of carcinomas, |including small cell lung carcinoma and renal cell carcinoma. CHR|3 PRD|acylaminoacyl-peptidase |oxidized protein hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=221589 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=327[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127917 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001640 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001640 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=221589 DBL|UNIGENE:Hs.221589 |OMIM:102645 |SNP:327 ENZ|EC:3.4.19.1 MAP|3p21.31 HG|species == rat; score == 1406; expect == 0.0; MEOW:ref|NP_036632.1| (92%) |species == Mouse; gene == Apeh; score == 1343; expect == 0.0; MEOW:MGgn0000442 (89%) |species == Worm; gene == R11E3.8; score == 386; expect == 2e-107; MEOW:CEgn0021875 (33%) |species == rice; score == 320; expect == 5.2e-87; MEOW:gnl|TIGR|8362.m02080 (31%) |species == rice; score == 305; expect == 5.1e-83; MEOW:gnl|TIGR|8362.m02081 (31%) } # EOR GENR { RETE|ID 1 HUgn0000328 CHR 1 14 DID 1 LocusLink:328 MAP 1 14q11.2-q12 NAM 1 APEX nuclease (multifunctional DNA repair enzyme) 1 ORG 1 Homo sapiens SYM 1 APEX1 ID|HUgn0000328 DID|LocusLink:328 ORG|Homo sapiens RSQ|REFSEQ:NM_001641 |REFSEQ:NM_080648 |REFSEQ:NM_080649 RPA|REFPROT:NP_001632 |REFPROT:NP_542379 |REFPROT:NP_542380 DBA|XM:NM_001641 |XM:NM_080648 |XM:NM_080649 |NA:D13370 |NA:M92444 |NA:M99703 |NA:X66133 |NA:AK098588 |NA:BC002338 |NA:BC004979 |NA:BC008145 |NA:BC019291 |NA:BT007236 |NA:D90373 |NA:M80261 |NA:M81955 |NA:S43127 |NA:U79268 |NA:X59764 |NA:none PAC|XP:NP_001632 |XP:NP_542379 |XP:NP_542380 SYM|APEX1 NAM|APEX nuclease (multifunctional DNA repair enzyme) 1 SYN|APE |APX |APE1 |APEN |APEX |HAP1 |REF1 |REF-1 FNC|APEX nuclease |base-excision repair ; GO:0006284 |DNA repair ; GO:0006281 |transcription from Pol II promoter ; GO:0006366 REAB|Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous |hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal |bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication |so the cell contains systems to identify and repair such sites. Class II AP endonucleases |cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major |AP endonuclease in human cells. Splice variants have been found for this gene; all |encode the same protein. CHR|14 PRD|AP lyase |AP endonuclease class I |apurinic/apyrimidinic exonuclease |multifunctional DNA repair enzyme |DNA-(apurinic or apyrimidinic site) lyase |apurinic/apyrimidinic (abasic) endonuclease |deoxyribonuclease (apurinic or apyrimidinic) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73722 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=328[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:437586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001641 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001641 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73722 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA201059 DBL|UNIGENE:Hs.73722 |OMIM:107748 |SNP:328 ENZ|EC:4.2.99.18 |DNA-(apurinic or apyrimidinic site) lyase activity ; GO:0003906 |uracil DNA N-glycosylase activity ; GO:0004844 |endodeoxyribonuclease activity ; GO:0004520 |transcription co-repressor activity ; GO:0003714 |3'-5' exonuclease activity ; GO:0008408 |endonuclease activity ; GO:0004519 |DNA binding ; GO:0003677 |transcription co-activator activity ; GO:0003713 MAP|14q11.2-q12 CEL|obsolete ; GO:0008370 |nucleus ; GO:0005634 HG|species == Mouse; gene == Apex1; score == 601; expect == 1e-172; MEOW:MGgn0000443 (94%) |species == rat; score == 597; expect == 4e-171; MEOW:ref|NP_077062.1| (93%) |species == Mosquito; gene == LOC20924; score == 308; expect == 1.1e-84; MEOW:AGgn0020924 (55%) |species == Fruitfly; gene == Rrp1; score == 304; expect == 2.2e-83; MEOW:FBgn0004584 (49%) |species == Weed; gene == At2g41460; score == 236; expect == 1.8e-62; MEOW:ATgn0007500 (45%) |species == rice; score == 225; expect == 4.4e-59; MEOW:gnl|TIGR|8350.m05494 (41%) |species == Worm; gene == exo-3; score == 220; expect == 4.8e-58; MEOW:CEgn0000638 (45%) |species == rice; score == 201; expect == 5.8e-52; MEOW:gnl|TIGR|8350.m05495 (43%) } # EOR GENR { RETE|ID 1 HUgn0000329 CHR 1 11 DID 1 LocusLink:329 MAP 1 11q22 NAM 1 baculoviral IAP repeat-containing 2 ORG 1 Homo sapiens SYM 1 BIRC2 ID|HUgn0000329 DID|LocusLink:329 ORG|Homo sapiens RSQ|REFSEQ:NM_001166 RPA|REFPROT:NP_001157 DBA|XM:NM_001166 |NA:AF207599 |NA:BC016174 |NA:BC028578 |NA:BX647978 |NA:L49431 |NA:U37547 |NA:U45879 |NA:none PAC|XP:NP_001157 SYM|BIRC2 NAM|baculoviral IAP repeat-containing 2 SYN|API1 |MIHB |CIAP1 |HIAP2 |RNF48 FNC|baculoviral IAP repeat-containing protein 2 |anti-apoptosis ; GO:0006916 |cell surface receptor linked signal transduction ; GO:0007166 |apoptosis ; GO:0006915 REAB|The protein encoded by this gene is a member of a family of proteins that inhibits |apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 |and TRAF2, probably by interfering with activation of ICE-like proteases. BIRC2 |inhibits apoptosis induced by serum deprivation and menadione, a potent inducer |of free radicals. The amino acid sequence predicts three baculovirus IAP repeat |domains and a ring finger domain. CHR|11 PRD|cIAP1 |hiap-2 |apoptosis inhibitor 1 |NFR2-TRAF signalling complex protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=289107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=329[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848645 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001166 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001166 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=289107 DBL|UNIGENE:Hs.289107 |OMIM:601712 |SNP:329 MAP|11q22 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Birc3; score == 992; expect == 0.0; MEOW:MGgn0000448 (83%) |species == rat; score == 957; expect == 0.0; MEOW:ref|NP_068520.1| (81%) |species == Human; gene == BIRC3; score == 831; expect == 0.0; MEOW:HUgn0000330 (72%) |species == rat; score == 788; expect == 0.0; MEOW:ref|NP_076477.1| (67%) |species == Fruitfly; gene == Iap2; score == 253; expect == 1.3e-67; MEOW:FBgn0015247 (29%) } # EOR GENR { RETE|ID 1 HUgn0000330 CHR 1 11 DID 1 LocusLink:330 MAP 1 11q22 NAM 1 baculoviral IAP repeat-containing 3 ORG 1 Homo sapiens SYM 1 BIRC3 ID|HUgn0000330 DID|LocusLink:330 ORG|Homo sapiens RSQ|REFSEQ:NM_001165 |REFSEQ:NM_182962 RPA|REFPROT:NP_001156 |REFPROT:NP_892007 DBA|XM:NM_001165 |NA:AF070674 |NA:BC027485 |NA:BC037420 |NA:BQ718651 |NA:L49432 |NA:U37546 |NA:U45878 |NA:none PAC|XP:NP_001156 SYM|BIRC3 NAM|baculoviral IAP repeat-containing 3 SYN|AIP1 |API2 |MIHC |CIAP2 |HAIP1 |HIAP1 |RNF49 FNC|baculoviral IAP repeat-containing protein 3 |anti-apoptosis ; GO:0006916 |cell surface receptor linked signal transduction ; GO:0007166 |apoptosis ; GO:0006915 REAB|The protein encoded by this gene is a member of a family of proteins that inhibits |apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 |and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded |protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis |resulting from exposure to menadione, a potent inducer of free radicals. The amino |acid sequence predicts three baculovirus IAP repeat domains and a ring finger domain. |Transcript variants encoding the same isoform have been identified. CHR|11 PRD|apoptosis inhibitor 2 |mammalian IAP homolog C |inhibitor of apoptosis protein 1 |TNFR2-TRAF signaling complex protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=127799 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=330[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848647 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001165 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001165 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=127799 DBL|UNIGENE:Hs.127799 |OMIM:601721 |SNP:330 MAP|11q22 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|intracellular ; GO:0005622 HG|species == rat; score == 878; expect == 0.0; MEOW:ref|NP_076477.1| (74%) |species == Mouse; gene == Birc2; score == 869; expect == 0.0; MEOW:MGgn0000447 (74%) |species == Human; gene == BIRC2; score == 831; expect == 0.0; MEOW:HUgn0000329 (72%) |species == rat; score == 822; expect == 0.0; MEOW:ref|NP_068520.1| (71%) |species == Mouse; gene == Birc3; score == 809; expect == 0.0; MEOW:MGgn0000448 (69%) |species == Fruitfly; gene == Iap2; score == 251; expect == 8.6e-67; MEOW:FBgn0015247 (28%) } # EOR GENR { RETE|ID 1 HUgn0000331 CHR 1 X DID 1 LocusLink:331 MAP 1 Xq25 NAM 1 baculoviral IAP repeat-containing 4 ORG 1 Homo sapiens SYM 1 BIRC4 ID|HUgn0000331 DID|LocusLink:331 ORG|Homo sapiens RSQ|REFSEQ:NM_001167 RPA|REFPROT:NP_001158 DBA|XM:NM_001167 |NA:BC030771 |NA:BC032729 |NA:BQ423165 |NA:U32974 |NA:none PAC|XP:NP_001158 SYM|BIRC4 NAM|baculoviral IAP repeat-containing 4 SYN|API3 |ILP1 |MIHA |XIAP FNC|baculoviral IAP repeat-containing protein 4 |anti-apoptosis ; GO:0006916 |cytoskeleton organization and biogenesis ; GO:0007010 |apoptosis ; GO:0006915 REAB|The protein encoded by this gene is a member of a family of proteins which inhibit |apoptosis through binding to tumor necrosis factor receptor-associated factors TRAF1 |and TRAF2. Similar to API1, BIRC4 inhibits apoptosis induced by menadione, a potent |inducer of free radicals, and ICE. BIRC4 also inhibits at least two members of the |caspase family of cell-death proteases, caspase-3 and caspase-7. CHR|X PRD|apoptosis inhibitor 3 |X-linked inhibitor of apoptosis URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=356076 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=331[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848649 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001167 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001167 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=356076 DBL|UNIGENE:Hs.356076 |OMIM:300079 |SNP:331 MAP|Xq25 ENZ|cysteine protease inhibitor activity ; GO:0004869 |actin binding ; GO:0003779 |apoptosis inhibitor activity ; GO:0008189 CEL|cytosol ; GO:0005829 |actin cytoskeleton ; GO:0015629 HG|species == rat; score == 922; expect == 0.0; MEOW:ref|NP_071567.1| (89%) |species == Mouse; gene == Birc4; score == 890; expect == 0.0; MEOW:MGgn0000449 (87%) |species == chimp; score == 410; expect == 4e-115; MEOW:sp|Q95M72|BIR8_PANTR (79%) |species == Human; gene == BIRC8; score == 409; expect == 5e-115; MEOW:HUgn0112401 (80%) |species == Fruitfly; gene == Iap2; score == 238; expect == 4.4e-63; MEOW:FBgn0015247 (29%) } # EOR GENR { RETE|ID 1 HUgn0000332 CHR 1 17 DID 1 LocusLink:332 MAP 1 17q25 NAM 1 baculoviral IAP repeat-containing 5 (survivin) ORG 1 Homo sapiens SYM 1 BIRC5 ID|HUgn0000332 DID|LocusLink:332 ORG|Homo sapiens RSQ|REFSEQ:NM_001168 RPA|REFPROT:NP_001159 DBA|XM:NM_001168 |NA:U75285 |NA:AB028869 |NA:AF077350 |NA:BC000784 |NA:BC001735 |NA:BC007606 |NA:BC008718 |NA:BC012164 |NA:BC034148 |NA:none PAC|XP:NP_001159 SYM|BIRC5 NAM|baculoviral IAP repeat-containing 5 (survivin) SYN|API4 |EPR-1 |SURVIVIN FNC|baculoviral IAP repeat-containing protein 5 |G2/M transition of mitotic cell cycle ; GO:0000086 |anti-apoptosis ; GO:0006916 |oncogenesis ; GO:0007048 REAB|The protein encoded by this gene is an apoptosis inhibitor that is expressed during |the G2/M phase of the cell cycle. BIRC5 associates with the microtubules of the |mitotic spindle and any disruption results in the loss of apoptosis activity. CHR|17 PRD|survivin |apoptosis inhibitor 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1578 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=332[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848654 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001168 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001168 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1578 DBL|UNIGENE:Hs.1578 |OMIM:603352 |SNP:332 MAP|17q25 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|spindle microtubule ; GO:0005876 HG|species == Mouse; gene == Birc5; score == 258; expect == 5.5e-70; MEOW:MGgn0000451 (84%) } # EOR GENR { RETE|ID 1 HUgn0000333 CHR 1 19 DID 1 LocusLink:333 MAP 1 19q13.1 NAM 1 amyloid beta (A4) precursor-like protein 1 ORG 1 Homo sapiens SYM 1 APLP1 ID|HUgn0000333 DID|LocusLink:333 ORG|Homo sapiens RSQ|REFSEQ:NM_005166 RPA|REFPROT:NP_005157 DBA|XM:NM_005166 |NA:AD000864 |NA:AK092376 |NA:BC012889 |NA:BC013850 |NA:BC032983 |NA:U48437 |NA:none PAC|XP:NP_005157 SYM|APLP1 NAM|amyloid beta (A4) precursor-like protein 1 SYN|APLP FNC|amyloid beta (A4) precursor-like protein 1 |endocytosis ; GO:0006897 |histogenesis and organogenesis ; GO:0007397 |cell adhesion ; GO:0007155 |neurogenesis ; GO:0007399 |apoptosis ; GO:0006915 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74565 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=333[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132613 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005166 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005166 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74565 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05060 DBL|UNIGENE:Hs.74565 |OMIM:104775 |SNP:333 MAP|19q13.1 ENZ|heparin binding ; GO:0008201 |cell adhesion molecule activity ; GO:0005194 CEL|coated pit ; GO:0005905 |basement membrane ; GO:0005604 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Aplp1; score == 1013; expect == 0.0; MEOW:MGgn0000454 (88%) |species == rat; score == 269; expect == 4.2e-72; MEOW:ref|XP_343514.1| (43%) |species == Human; gene == APLP2; score == 268; expect == 7.1e-72; MEOW:HUgn0000334 (43%) |species == rat; score == 240; expect == 1.9e-63; MEOW:ref|NP_062161.1| (37%) |species == Human; gene == APP; score == 239; expect == 4.3e-63; MEOW:HUgn0000351 (37%) |species == Zfish; gene == appa; score == 217; expect == 6.9e-57; MEOW:ZFgn0000961 (38%) } # EOR GENR { RETE|ID 1 HUgn0000334 CHR 1 11 DID 1 LocusLink:334 MAP 1 11q23-q25 NAM 1 amyloid beta (A4) precursor-like protein 2 ORG 1 Homo sapiens SYM 1 APLP2 ID|HUgn0000334 DID|LocusLink:334 ORG|Homo sapiens RSQ|REFSEQ:NM_001642 RPA|REFPROT:NP_001633 DBA|XM:NM_001642 |NA:AF168956 |NA:AK056883 |NA:AK128162 |NA:BC000373 |NA:BC004371 |NA:L09209 |NA:L19597 |NA:L23113 |NA:L23114 |NA:L27631 |NA:S60099 |NA:Z22572 |NA:none PAC|XP:NP_001633 SYM|APLP2 NAM|amyloid beta (A4) precursor-like protein 2 SYN|APPH |APPL2 |CDEBP FNC|amyloid beta (A4) precursor-like protein 2 CHR|11 PRD|amyloid precursor protein homolog HSD-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279518 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=334[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139159 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001642 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001642 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=279518 DBL|UNIGENE:Hs.279518 |OMIM:104776 |SNP:334 MAP|11q23-q25 HG|species == rat; score == 996; expect == 0.0; MEOW:ref|XP_343514.1| (91%) |species == Mouse; gene == Aplp2; score == 966; expect == 0.0; MEOW:MGgn0000455 (75%) |species == Human; gene == APP; score == 640; expect == 0.0; MEOW:HUgn0000351 (48%) |species == Zfish; gene == appa; score == 296; expect == 1.5e-80; MEOW:ZFgn0000961 (49%) |species == Worm; gene == apl-1; score == 139; expect == 4.1e-33; MEOW:CEgn0000064 (35%) } # EOR GENR { RETE|ID 1 HUgn0000335 CHR 1 11 DID 1 LocusLink:335 MAP 1 11q23-q24 NAM 1 apolipoprotein A-I ORG 1 Homo sapiens SYM 1 APOA1 ID|HUgn0000335 DID|LocusLink:335 ORG|Homo sapiens RSQ|REFSEQ:NM_000039 RPA|REFPROT:NP_000030 DBA|XM:NM_000039 |NA:J00098 |NA:X01038 |NA:X07496 |NA:BC005380 |NA:M11791 |NA:M27875 |NA:M29068 |NA:X00566 |NA:X02162 |NA:none PAC|XP:NP_000030 SYM|APOA1 NAM|apolipoprotein A-I FNC|apolipoprotein A-I precursor |lipid transport ; GO:0006869 |cholesterol metabolism ; GO:0008203 |circulation ; GO:0008015 REAB|APOA1 promotes cholesterol efflux from tissues to the liver for excretion. Apolipoprotein |A-I is the major protein component of high density lipoprotein (HDL) in the plasma. |Synthesized in the liver and small intestine, it consists of two identical chains |of 77 amino acids; an 18-amino acid signal peptide is removed co-translationally |and a 6-amino acid propeptide is cleaved post-translationally. Variation in the |latter step, in addition to modifications leading to so-called isoforms, is responsible |for some of the polymorphism observed. APOA1 is a cofactor for lecithin cholesterolacyltransferase |(LCAT) which is responsible for the formation of most plasma cholesteryl esters. | The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. | The A-I and A-IV genes are transcribed from the same strand, while the C-III gene |is transcribed convergently in relation to A-I. Defects in the apolipoprotein |A-1 gene are associated with HDL deficiency and Tangier disease. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93194 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=335[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119684 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000039 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=93194 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA49 DBL|UNIGENE:Hs.93194 |OMIM:107680 |SNP:335 MAP|11q23-q24 PHP|Amyloidosis, 3 or more types |ApoA-I and apoC-III deficiency, combined |Corneal clouding, autosomal recessive |Hypertriglyceridemia, one form |Hypoalphalipoproteinemia ENZ|high-density lipoprotein binding ; GO:0008035 |lipid binding ; GO:0008289 |lipid transporter activity ; GO:0005319 HG|species == chimp; score == 344; expect == 1.9e-95; MEOW:sp|Q8HZ97|Q8HZ97 (98%) |species == Mouse; gene == Apoa1; score == 318; expect == 1.3e-87; MEOW:MGgn0000457 (65%) } # EOR GENR { RETE|ID 1 HUgn0000336 CHR 1 1 DID 1 LocusLink:336 MAP 1 1q21-q23 NAM 1 apolipoprotein A-II ORG 1 Homo sapiens SYM 1 APOA2 ID|HUgn0000336 DID|LocusLink:336 ORG|Homo sapiens RSQ|REFSEQ:NM_001643 RPA|REFPROT:NP_001634 DBA|XM:NM_001643 |NA:X02619 |NA:X02905 |NA:X04898 |NA:BC005282 |NA:M29882 |NA:X00955 |NA:none PAC|XP:NP_001634 SYM|APOA2 NAM|apolipoprotein A-II FNC|apolipoprotein A-II precursor |lipid transport ; GO:0006869 REAB|Apolipoprotein (Apo-) A-II is the second most abundant protein of the high density |lipoprotein particles. The apo-A-II gene consists of 4 exons and 3 introns. The |four exons encode the 5' untranslated region, pre-peptide, a short N-terminal domain |and a C-terminal domain composed of a variable number of lipid-binding amphipathic |helices. Familial apo-A-II deficiency may result from a splice-junction alteration |which blocks splicing of intron 3 from the primary transcript and result the formation |of a non-functional mRNA. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=237658 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=336[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119685 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001643 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001643 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=237658 DBL|UNIGENE:Hs.237658 |OMIM:107670 |SNP:336 MAP|1q21-q23 PHP|Apolipoprotein A-II deficiency |Hypercholesterolemia, familial, modification of ENZ|lipid transporter activity ; GO:0005319 HG|species == chimp; score == 191; expect == 1.2e-51; MEOW:sp|Q8MIQ5|Q8MIQ5 (97%) } # EOR GENR { RETE|ID 1 HUgn0000337 CHR 1 11 DID 1 LocusLink:337 MAP 1 11q23 NAM 1 apolipoprotein A-IV ORG 1 Homo sapiens SYM 1 APOA4 ID|HUgn0000337 DID|LocusLink:337 ORG|Homo sapiens RSQ|REFSEQ:NM_000482 RPA|REFPROT:NP_000473 DBA|XM:NM_000482 |NA:J02758 |NA:M14642 |NA:M10373 |NA:M13654 |NA:M14566 |NA:X13629 |NA:none PAC|XP:NP_000473 SYM|APOA4 NAM|apolipoprotein A-IV FNC|apolipoprotein A-IV precursor |lipid transport ; GO:0006869 |circulation ; GO:0008015 |lipid metabolism ; GO:0006629 REAB|Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence |polymorphism has been identified in the 3'UTR of the third exon. The primary translation |product is a 396-residue preprotein which after proteolytic processing is secreted |its primary site of synthesis, the intestine, in association with chylomicron particles. | Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol |acyltransferase in vitro. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1247 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=337[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119000 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000482 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000482 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24887 DBL|UNIGENE:Hs.1247 |OMIM:107690 |SNP:337 MAP|11q23 ENZ|lipid binding ; GO:0008289 |lipid transporter activity ; GO:0005319 HG|species == Mouse; gene == Apoa4; score == 428; expect == 2e-120; MEOW:MGgn0000459 (59%) |species == chimp; score == 146; expect == 2.6e-36; MEOW:sp|Q28857|Q28857 (98%) } # EOR GENR { RETE|ID 1 HUgn0000338 CHR 1 2 DID 1 LocusLink:338 MAP 1 2p24-p23 NAM 1 apolipoprotein B (including Ag(x) antigen) ORG 1 Homo sapiens SYM 1 APOB ID|HUgn0000338 DID|LocusLink:338 ORG|Homo sapiens RSQ|REFSEQ:NM_000384 RPA|REFPROT:NP_000375 DBA|XM:NM_000384 |NA:J04838 |NA:M19828 |NA:J02610 |NA:K03175 |NA:M10374 |NA:M12413 |NA:M12480 |NA:M12681 |NA:M14081 |NA:M14162 |NA:M15421 |NA:M17367 |NA:M17779 |NA:M18471 |NA:M19734 |NA:M31030 |NA:M36676 |NA:X03045 |NA:X03324 |NA:X03325 |NA:X03326 |NA:X04506 |NA:X04714 |NA:none PAC|XP:NP_000375 SYM|APOB NAM|apolipoprotein B (including Ag(x) antigen) SYN|FLDB FNC|apolipoprotein B precursor |lipid transport ; GO:0006869 |cholesterol metabolism ; GO:0008203 |circulation ; GO:0008015 |signal transduction ; GO:0007165 REAB|Apolipoprotein B (ApoB) is the main apolipoprotein of chylomicrons and low density |lipoproteins (LDL). The protein occurs in the plasma in 2 main isoforms, apoB-48 |and apoB-100. The first is synthesized exclusively by the gut, the second by the |liver. The intestinal (B-48) and hepatic (B-100) forms of apoB are coded by a single |gene and by a single mRNA transcript larger than 16 kb. The 2 proteins share a common |amino terminal sequence. In the ApoB-100 isoform the precursor has 4,563 amino acids, |and the mature apoB-100 has 4,536 amino acid residues. Mature, circulating B-48 |is homologous over its entire length (estimated to be between 2,130 and 2,144 amino |acid residues) with the amino-terminal portion of B-100 and contains no sequence |from the carboxyl end of B-100. From structural studies, it is thought that apoB-48 |represents the amino-terminal 47% of apoB-100 and that the carboxyl terminus of |apoB-48 is in the vicinity of residue 2151 of apoB-100. Apolipoprotein B-48 may |be the product of an intestinal mRNA with an in-frame UAA stop codon resulting from |a C-to-U change in the codon CAA encoding Gln(2153) in apoB-100 mRNA. Since only |the sequence that codes B-100 is present in genomic DNA, this presents the possibility |of an organ-specific introduction of a stop codon to an mRNA and the change from |CAA to UAA of codon 2153 of the message as a unique RNA editing process. CHR|2 PRD|apoB-48 |apoB-100 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=280226 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=338[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119686 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000384 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000384 |http://www.geneclinics.org/query?mim=107730 DBL|UNIGENE:Hs.280226 |OMIM:107730 |SNP:338 MAP|2p24-p23 PHP|Abetalipoproteinemia |Hypercholesterolemia, due to ligand-defective apo B |Hypobetalipoproteinemia ENZ|heparin binding ; GO:0008201 |receptor binding ; GO:0005102 |lipid transporter activity ; GO:0005319 CEL|microsome ; GO:0005792 |soluble fraction ; GO:0005625 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 6092; expect == 0.0; MEOW:ref|XP_343036.1| (68%) |species == chimp; score == 382; expect == 3e-107; MEOW:sp|Q8HZF0|Q8HZF0 (97%) |species == Mosquito; score == 163; expect == 1.1e-39; MEOW:AGgn0018828 (21%) } # EOR GENR { RETE|ID 1 HUgn0000339 CHR 1 12 DID 1 LocusLink:339 MAP 1 12p13.1 NAM 1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 ORG 1 Homo sapiens SYM 1 APOBEC1 ID|HUgn0000339 DID|LocusLink:339 ORG|Homo sapiens RSQ|REFSEQ:NM_001644 |REFSEQ:NM_005889 RPA|REFPROT:NP_001635 |REFPROT:NP_005880 DBA|XM:NM_001644 |XM:NM_005889 |NA:AB009426 |NA:L25877 |NA:L26234 |NA:U72891 |NA:none PAC|XP:NP_001635 |XP:NP_005880 SYM|APOBEC1 NAM|apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 SYN|BEDP |CDAR1 FNC|apolipoprotein B mRNA editing enzyme isoform 1 |apolipoprotein B mRNA editing enzyme isoform 2 |mRNA editing ; GO:0006381 |mRNA processing ; GO:0006397 |lipid metabolism ; GO:0006629 REAB|This gene (APOBEC1) is involved in the production of apolipoprotein B (apoB)-48 from |apoB-100. It spans 18 kb and contains five exons, all of which are translated. Alternative |splicing produces a variant transcript that lacks exon 2 and encodes a novel 36-amino |acid peptide. The exon 2-skipped transcript accounts for approximately 50% of APOBEC1 |mRNA in the adult small intestine and up to 90% of APOBEC1 mRNA in the developing |gut. Exon 2-skipping may thus be a quantitatively important mechanism for regulating |the expression of this gene in the gastrointestinal tract. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=560 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=339[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371870 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001644 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001644 DBL|UNIGENE:Hs.560 |OMIM:600130 |SNP:339 MAP|12p13.1 ENZ|cytidine deaminase activity ; GO:0004126 |RNA binding ; GO:0003723 |zinc ion binding ; GO:0008270 |hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Apobec1; score == 356; expect == 4.6e-99; MEOW:MGgn0000461 (71%) |species == rat; score == 343; expect == 5.7e-95; MEOW:ref|NP_037039.1| (69%) } # EOR GENR { RETE|ID 1 HUgn0000340 DID 1 LocusLink:340 NAM 1 apolipoprotein B mRNA editing enzyme, regulatory polypeptide 2 ORG 1 Homo sapiens SYM 1 APOBER1 ID|HUgn0000340 DID|LocusLink:340 ORG|Homo sapiens SYM|APOBER1 NAM|apolipoprotein B mRNA editing enzyme, regulatory polypeptide 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:371874 } # EOR GENR { RETE|ID 1 HUgn0000341 CHR 1 19 DID 1 LocusLink:341 MAP 1 19q13.2 NAM 1 apolipoprotein C-I ORG 1 Homo sapiens SYM 1 APOC1 ID|HUgn0000341 DID|LocusLink:341 ORG|Homo sapiens RSQ|REFSEQ:NM_001645 RPA|REFPROT:NP_001636 DBA|XM:NM_001645 |NA:AF050154 |NA:M20843 |NA:M20902 |NA:BC009698 |NA:BC055093 |NA:M27359 |NA:X00570 |NA:none PAC|XP:NP_001636 SYM|APOC1 NAM|apolipoprotein C-I FNC|apolipoprotein C-I precursor |lipid transport ; GO:0006869 |lipid metabolism ; GO:0006629 |lipoprotein metabolism ; GO:0042157 REAB|Apolipoprotein (apo) C-I gene is expressed primarily in the liver, and it is activated |when monocytes differentiate into macrophages. A copy of the apo C-I gene, apo C-I', |is located 4 kb downstream in the same orientation, on the same chromosome. However, |apo C-I' gene has no detectable mRNA product in any tissue, suggesting that it may |be a pseudogene. The apoC-I gene is 4653 bases long and the apo C-I' is 4387 base |pairs, and each contains four exons and 3 introns. The differences between the |two genes includes a change of the codon for Gln-2 of the signal peptide region |of apo C-I', which introduces a translation stop signal. A major difference between |the two sequences is also found in the second and third introns of the apoC-I' gene, |which contains 7.5 instead of 9 copies of Alu family sequences. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268571 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=341[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119687 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001645 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001645 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=268571 DBL|UNIGENE:Hs.268571 |OMIM:107710 |SNP:341 MAP|19q13.2 ENZ|lipid transporter activity ; GO:0005319 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0000342 CHR 1 19 DID 1 LocusLink:342 MAP 1 19q13.2 NAM 1 apolipoprotein C-I pseudogene 1 ORG 1 Homo sapiens SYM 1 APOC1P1 ID|HUgn0000342 DID|LocusLink:342 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M20903 SYM|APOC1P1 NAM|apolipoprotein C-I pseudogene 1 CHR|19 MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119688 } # EOR GENR { RETE|ID 1 HUgn0000343 CHR 1 16 DID 1 LocusLink:343 MAP 1 16p12 NAM 1 aquaporin 8 ORG 1 Homo sapiens SYM 1 AQP8 ID|HUgn0000343 DID|LocusLink:343 ORG|Homo sapiens RSQ|REFSEQ:NM_001169 RPA|REFPROT:NP_001160 DBA|XM:NM_001169 |NA:AB013456 |NA:AF067797 |NA:BC040630 |NA:none PAC|XP:NP_001160 SYM|AQP8 NAM|aquaporin 8 FNC|aquaporin 8 |water transport ; GO:0006833 |transport ; GO:0006810 REAB|Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral |membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin |8 mRNA is found in pancreas and colon but not other tissues. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=176658 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=343[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6268335 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001169 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001169 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=176658 DBL|UNIGENE:Hs.176658 |OMIM:603750 |SNP:343 MAP|16p12 ENZ|water channel activity ; GO:0015250 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 355; expect == 1.8e-98; MEOW:ref|XP_346560.1| (75%) |species == rat; score == 355; expect == 1.8e-98; MEOW:ref|XP_347357.1| (75%) |species == Mouse; gene == Aqp8; score == 354; expect == 2.3e-98; MEOW:MGgn0000484 (76%) |species == Weed; gene == At2g36830; score == 141; expect == 5.0e-34; MEOW:ATgn0008296 (38%) |species == Weed; gene == At3g26520; score == 133; expect == 8.0e-32; MEOW:ATgn0012122 (37%) |species == rice; score == 132; expect == 1.7e-31; MEOW:gnl|TIGR|8352.m04310 (36%) |species == Fruitfly; gene == CG17664; score == 130; expect == 8.7e-31; MEOW:FBgn0034883 (32%) |species == Fruitfly; gene == CG17662; score == 130; expect == 1.0e-30; MEOW:FBgn0034884 (32%) |species == rice; score == 130; expect == 6.6e-31; MEOW:gnl|TIGR|8351.m04155 (37%) } # EOR GENR { RETE|ID 1 HUgn0000344 CHR 1 19 DID 1 LocusLink:344 MAP 1 19q13.2 NAM 1 apolipoprotein C-II ORG 1 Homo sapiens SYM 1 APOC2 ID|HUgn0000344 DID|LocusLink:344 ORG|Homo sapiens RSQ|REFSEQ:NM_000483 RPA|REFPROT:NP_000474 DBA|XM:NM_000483 |NA:J02698 |NA:M10612 |NA:X05151 |NA:AV694494 |NA:BC005348 |NA:M29844 |NA:X00568 |NA:none PAC|XP:NP_000474 SYM|APOC2 NAM|apolipoprotein C-II FNC|apolipoprotein C-II precursor |lipid transport ; GO:0006869 |circulation ; GO:0008015 |lipid catabolism ; GO:0016042 REAB|The protein encoded by this gene is secreted in plasma where it is a component of |very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, |which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations |in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, |xanthomas, and increased risk of pancreatitis and early atherosclerosis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75615 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=344[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119689 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000483 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000483 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75615 DBL|UNIGENE:Hs.75615 |OMIM:608083 |SNP:344 |UWCM:119689.html MAP|19q13.2 PHP|Hyperlipoproteinemia, type Ib ENZ|lipoprotein lipase activity ; GO:0004465 |lipid transporter activity ; GO:0005319 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0000345 CHR 1 11 DID 1 LocusLink:345 MAP 1 11q23.1-q23.2 NAM 1 apolipoprotein C-III ORG 1 Homo sapiens SYM 1 APOC3 ID|HUgn0000345 DID|LocusLink:345 ORG|Homo sapiens RSQ|REFSEQ:NM_000040 RPA|REFPROT:NP_000031 DBA|XM:NM_000040 |NA:J00098 |NA:M33043 |NA:X01392 |NA:X03120 |NA:BC027977 |NA:M28613 |NA:M28614 |NA:V01513 |NA:X00567 |NA:X01388 |NA:none PAC|XP:NP_000031 SYM|APOC3 NAM|apolipoprotein C-III FNC|apolipoprotein C-III precursor |lipid transport ; GO:0006869 |lipid catabolism ; GO:0016042 REAB|Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits |lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich |particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and |human genomes. The A-I and A-IV genes are transcribed from the same strand, while |the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels |induces the development of hypertriglyceridemia. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73849 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=345[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119001 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000040 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000040 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73849 DBL|UNIGENE:Hs.73849 |OMIM:107720 |SNP:345 MAP|11q23.1-q23.2 PHP|Hypertriglyceridemia ENZ|lipid transporter activity ; GO:0005319 } # EOR GENR { RETE|ID 1 HUgn0000346 CHR 1 19 DID 1 LocusLink:346 MAP 1 19q13.2 NAM 1 apolipoprotein C-IV ORG 1 Homo sapiens SYM 1 APOC4 ID|HUgn0000346 DID|LocusLink:346 ORG|Homo sapiens RSQ|REFSEQ:NM_001646 RPA|REFPROT:NP_001637 DBA|XM:NM_001646 |NA:U32576 |NA:BC020723 |NA:none PAC|XP:NP_001637 SYM|APOC4 NAM|apolipoprotein C-IV FNC|apolipoprotein C-IV |lipid transport ; GO:0006869 |lipid metabolism ; GO:0006629 REAB|Apolipoprotein (apo)C4 gene is a member of the apolipoprotein gene family. It is |expressed in the liver and has a predicted protein structure characteristic of the |other genes in this family. Apo C4 is a 3.3-kb gene consisting of 3 exons and 2 |introns; it is located 0.5 kb 5' to the APOC2 gene. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=491896 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=346[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568489 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001646 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001646 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=491896 DBL|UNIGENE:Hs.491896 |OMIM:600745 |SNP:346 MAP|19q13.2 ENZ|lipid transporter activity ; GO:0005319 HG|species == rat; score == 157; expect == 9.7e-40; MEOW:ref|XP_214853.1| (59%) |species == Mouse; gene == Apoc4; score == 137; expect == 1.3e-33; MEOW:MGgn0000057 (63%) } # EOR GENR { RETE|ID 1 HUgn0000347 CHR 1 3 DID 1 LocusLink:347 MAP 1 3q26.2-qter NAM 1 apolipoprotein D ORG 1 Homo sapiens SYM 1 APOD ID|HUgn0000347 DID|LocusLink:347 ORG|Homo sapiens RSQ|REFSEQ:NM_001647 RPA|REFPROT:NP_001638 DBA|XM:NM_001647 |NA:M16648 |NA:M16649 |NA:M16695 |NA:M16696 |NA:BC007402 |NA:J02611 |NA:S80440 |NA:none PAC|XP:NP_001638 SYM|APOD NAM|apolipoprotein D FNC|apolipoprotein D precursor |transport ; GO:0006810 |lipid metabolism ; GO:0006629 REAB|Apolipoprotein D (Apo-D) is a component of high density lipoprotein that has no marked |similarity to other apolipoprotein sequences. It has a high degree of homology to |plasma retinol-binding protein and other members of the alpha 2 microglobulin protein |superfamily of carrier proteins, also known as lipocalins. It is a glycoprotein |of estimated molecular weight 33 KDa. Apo-D is closely associated with the enzyme |lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75736 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=347[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119690 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001647 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001647 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75736 DBL|UNIGENE:Hs.75736 |OMIM:107740 |SNP:347 MAP|3q26.2-qter ENZ|high-density lipoprotein binding ; GO:0008035 |lipid binding ; GO:0008289 |lipid transporter activity ; GO:0005319 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Apod; score == 290; expect == 3.2e-79; MEOW:MGgn0000466 (73%) |species == rat; score == 271; expect == 1.2e-73; MEOW:ref|NP_036909.1| (74%) } # EOR GENR { RETE|ID 1 HUgn0000348 CHR 1 19 DID 1 LocusLink:348 MAP 1 19q13.2 NAM 1 apolipoprotein E ORG 1 Homo sapiens SYM 1 APOE ID|HUgn0000348 DID|LocusLink:348 ORG|Homo sapiens RSQ|REFSEQ:NM_000041 RPA|REFPROT:NP_000032 DBA|XM:NM_000041 |NA:M10065 |NA:X92000 |NA:BC003557 |NA:K00396 |NA:M12529 |NA:X00199 |NA:Z70760 |NA:none PAC|XP:NP_000032 SYM|APOE NAM|apolipoprotein E FNC|apolipoprotein E |lipid transport ; GO:0006869 |cholesterol metabolism ; GO:0008203 |circulation ; GO:0008015 |lipid metabolism ; GO:0006629 |development ; GO:0007275 |immune response ; GO:0006955 REAB|Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly |removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein |E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells |and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich |lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster |with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, |or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol |and triglycerides are the consequence of impaired clearance of chylomicron and VLDL |remnants. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=110675 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=348[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119691 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000041 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000041 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=110675 |http://www.geneclinics.org/query?mim=107741 |http://www.ncbi.nlm.nih.gov/disease/Atherosclerosis.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA55 DBL|UNIGENE:Hs.110675 |OMIM:107741 |SNP:348 MAP|19q13.2 PHP|Hyperlipoproteinemia, type III |Myocardial infarction susceptibility |Sea-blue histiocyte disease ENZ|heparin binding ; GO:0008201 |lipid binding ; GO:0008289 |receptor binding ; GO:0005102 |lipid transporter activity ; GO:0005319 HG|species == chimp; score == 542; expect == 2e-156; MEOW:sp|Q9GJU3|Q9GJU3 (97%) |species == Mouse; gene == Apoe; score == 426; expect == 1e-119; MEOW:MGgn0000467 (73%) |species == rat; score == 396; expect == 7e-111; MEOW:ref|NP_620183.1| (70%) |species == Zfish; gene == apoeb; score == 136; expect == 1.5e-32; MEOW:ZFgn0000114 (27%) } # EOR GENR { RETE|ID 1 HUgn0000349 CHR 1 16 DID 1 LocusLink:349 MAP 1 16q11-q24 NAM 1 apolipoprotein E-like 1 ORG 1 Homo sapiens SYM 1 APOEL1 ID|HUgn0000349 DID|LocusLink:349 ORG|Homo sapiens SYM|APOEL1 NAM|apolipoprotein E-like 1 CHR|16 MAP|16q11-q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119002 } # EOR GENR { RETE|ID 1 HUgn0000350 CHR 1 17 DID 1 LocusLink:350 MAP 1 17q23-qter NAM 1 apolipoprotein H (beta-2-glycoprotein I) ORG 1 Homo sapiens SYM 1 APOH ID|HUgn0000350 DID|LocusLink:350 ORG|Homo sapiens RSQ|REFSEQ:NM_000042 RPA|REFPROT:NP_000033 DBA|XM:NM_000042 |NA:Y11493 |NA:Y17754 |NA:BC020703 |NA:BC026283 |NA:M62839 |NA:S80305 |NA:X53595 |NA:X57847 |NA:X58100 |NA:none PAC|XP:NP_000033 SYM|APOH NAM|apolipoprotein H (beta-2-glycoprotein I) SYN|BG |B2G1 FNC|beta-2-glycoprotein I precursor REAB|Apolipoprotein H has been implicated in a variety of physiologic pathways including |lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. | APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid |autoantibodies found in sera of many patients with lupus and primary antiphospholipid |syndrome, but it does not seem to be required for the reactivity of antiphospholipid |autoantibodies associated with infections. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1252 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=350[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118887 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000042 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000042 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1252 DBL|UNIGENE:Hs.1252 |OMIM:138700 |SNP:350 MAP|17q23-qter PHP|Apolipoprotein H deficiency ENZ|heparin binding ; GO:0008201 |defense/immunity protein activity ; GO:0003793 |lipid transporter activity ; GO:0005319 HG|species == chimp; score == 743; expect == 0.0; MEOW:sp|Q95LB0|Q95LB0 (99%) |species == rat; score == 620; expect == 4e-178; MEOW:ref|XP_213509.2| (71%) |species == Mouse; gene == Apoh; score == 605; expect == 1e-173; MEOW:MGgn0000469 (76%) } # EOR GENR { RETE|ID 1 HUgn0000351 CHR 1 21 DID 1 LocusLink:351 MAP 1 21q21.2 NAM 1 amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease) ORG 1 Homo sapiens SYM 1 APP ID|HUgn0000351 DID|LocusLink:351 ORG|Homo sapiens RSQ|REFSEQ:NM_000484 RPA|REFPROT:NP_000475 DBA|XM:NM_000484 |NA:D87675 |NA:M24546 |NA:M33112 |NA:M34862 |NA:M34863 |NA:M34864 |NA:M34865 |NA:M34866 |NA:M34867 |NA:M34868 |NA:M34869 |NA:M34870 |NA:M34871 |NA:M34872 |NA:M34873 |NA:M34874 |NA:M34875 |NA:M34876 |NA:M34877 |NA:M34878 |NA:M34879 |NA:AF282245 |NA:BC004369 |NA:BC018937 |NA:M15532 |NA:M15533 |NA:M16765 |NA:M18734 |NA:M28373 |NA:X06989 |NA:Y00264 |NA:none PAC|XP:NP_000475 SYM|APP NAM|amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease) SYN|AAA |AD1 |CVAP |ABETA FNC|amyloid beta (A4) precursor protein (protease nexin-II, Alzheimer disease) CHR|21 PRD|amyloid beta-peptide |Amyloid beta (A4) precursor protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177486 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=351[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119692 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000484 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000484 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177486 |http://www.geneclinics.org/query?mim=104760 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 DBL|UNIGENE:Hs.177486 |OMIM:104760 |SNP:351 |UWCM:119692.html MAP|21q21.2 PHP|Alzheimer disease-1, APP-related |Amyloidosis, cerebroarterial, Dutch type |Schizophrenia, chronic HG|species == rat; score == 1288; expect == 0.0; MEOW:ref|NP_062161.1| (96%) |species == Mouse; gene == App; score == 756; expect == 0.0; MEOW:MGgn0000471 (94%) |species == Human; gene == APLP2; score == 640; expect == 0.0; MEOW:HUgn0000334 (48%) |species == Zfish; gene == appa; score == 483; expect == 7e-137; MEOW:ZFgn0000961 (74%) |species == Worm; gene == apl-1; score == 137; expect == 2.6e-32; MEOW:CEgn0000064 (37%) } # EOR GENR { RETE|ID 1 HUgn0000352 CHR 1 9 DID 1 LocusLink:352 MAP 1 9q31-qter NAM 1 amyloid beta (A4) precursor protein-like 1 ORG 1 Homo sapiens SYM 1 APPL1 ID|HUgn0000352 DID|LocusLink:352 ORG|Homo sapiens SYM|APPL1 NAM|amyloid beta (A4) precursor protein-like 1 CHR|9 DBL|OMIM:104740 MAP|9q31-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119693 } # EOR GENR { RETE|ID 1 HUgn0000353 CHR 1 16 DID 1 LocusLink:353 MAP 1 16q24 NAM 1 adenine phosphoribosyltransferase ORG 1 Homo sapiens SYM 1 APRT ID|HUgn0000353 DID|LocusLink:353 ORG|Homo sapiens RSQ|REFSEQ:NM_000485 RPA|REFPROT:NP_000476 DBA|XM:NM_000485 |NA:M16446 |NA:U09817 |NA:Y00486 |NA:none PAC|XP:NP_000476 SYM|APRT NAM|adenine phosphoribosyltransferase SYN|AMP FNC|adenine phosphoribosyltransferase |nucleoside metabolism ; GO:0009116 |adenine salvage pathway ; GO:0006168 REAB|Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase |family. A conserved feature of this gene is the distribution of CpG dinucleotides. |This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine |and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product |of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes |2,8-dihydroxyadenine urolithiasis. CHR|16 PRD|AMP diphosphorylase |AMP pyrophosphorylase |transphosphoribosidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=28914 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=353[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119003 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000485 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000485 |http://www.geneclinics.org/query?mim=102600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.28914 |OMIM:102600 |SNP:353 ENZ|EC:2.4.2.7 |adenine phosphoribosyltransferase activity ; GO:0003999 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|16q24 PHP|Urolithiasis, 2,8-dihydroxyadenine HG|species == rat; score == 312; expect == 5.5e-86; MEOW:ref|XP_214704.1| (86%) |species == Mouse; gene == Aprt; score == 295; expect == 1.2e-80; MEOW:MGgn0000472 (80%) |species == rice; score == 157; expect == 6.2e-39; MEOW:gnl|TIGR|8359.m03825 (45%) |species == Weed; gene == At4g22570; score == 153; expect == 4.3e-38; MEOW:ATgn0020683 (44%) |species == rice; score == 151; expect == 2.9e-37; MEOW:gnl|TIGR|8359.m03794 (45%) |species == Worm; gene == T19B4.3; score == 149; expect == 5.7e-37; MEOW:CEgn0016341 (45%) |species == Fruitfly; gene == Aprt; score == 149; expect == 6.3e-37; MEOW:FBgn0000109 (46%) |species == Yeast; gene == APT1; score == 149; expect == 3.2e-37; MEOW:SGgn0004484 (46%) |species == Weed; gene == At1g27450; score == 146; expect == 5.2e-36; MEOW:ATgn0002382 (41%) |species == Weed; gene == At5g11160; score == 144; expect == 3.4e-35; MEOW:ATgn0023734 (41%) |species == rice; score == 141; expect == 4.6e-34; MEOW:gnl|TIGR|8352.m03904 (44%) |species == ecoli; score == 141; expect == 1.7e-34; MEOW:ref|NP_415002.1| (43%) |species == Weed; gene == At1g80050; score == 136; expect == 5.4e-33; MEOW:ATgn0005944 (39%) |species == Mosquito; score == 129; expect == 5.0e-31; MEOW:AGgn0016485 (41%) } # EOR GENR { RETE|ID 1 HUgn0000354 CHR 1 19 DID 1 LocusLink:354 MAP 1 19q13.41 NAM 1 kallikrein 3, (prostate specific antigen) ORG 1 Homo sapiens SYM 1 KLK3 ID|HUgn0000354 DID|LocusLink:354 ORG|Homo sapiens RSQ|REFSEQ:NM_001648 |REFSEQ:NM_145864 RPA|REFPROT:NP_001639 |REFPROT:NP_665863 DBA|XM:NM_001648 |XM:NM_145864 |NA:M24543 |NA:M27274 |NA:X13940 |NA:X13941 |NA:X13943 |NA:X13944 |NA:X14810 |NA:AF335478 |NA:AJ310938 |NA:AJ459784 |NA:BC005307 |NA:BC050595 |NA:BC056665 |NA:M21895 |NA:M21896 |NA:M21897 |NA:M26663 |NA:U17040 |NA:X05332 PAC|XP:NP_001639 |XP:NP_665863 SYM|KLK3 NAM|kallikrein 3, (prostate specific antigen) SYN|APS |PSA FNC|prostate specific antigen isoform 1 preproprotein |prostate specific antigen isoform 2 REAB|Kallikreins are a subgroup of serine proteases having diverse physiological functions. |Growing evidence suggests that many kallikreins are implicated in carcinogenesis |and some have potential as novel cancer and other disease biomarkers. This gene |is one of the fifteen kallikrein subfamily members located in a cluster on chromosome |19. Its protein product is a protease present in seminal plasma. It is thought to |function normally in the liquefaction of seminal coagulum, presumably by hydrolysis |of the high molecular mass seminal vesicle protein. Serum level of this protein, |called PSA in the clinical setting, is useful in the diagnosis and monitoring of |prostatic carcinoma. Alternate splicing of this gene generates two transcript variants |encoding different isoforms. Additional transcript variants have been described, |but it is unclear if these transcripts are normally expressed or if they are specific |to benign or malignant tumors. CHR|19 PRD|seminin |P-30 antigen |semenogelase |gamma-seminoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171995 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119695 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001648 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001648 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171995 DBL|UNIGENE:Hs.171995 |OMIM:176820 |SNP:354 ENZ|EC:3.4.21.77 |serine-type peptidase activity ; GO:0008236 MAP|19q13.41 HG|species == Human; gene == KLK2; score == 435; expect == 1e-122; MEOW:HUgn0003817 (77%) |species == Mouse; gene == Klk21; score == 309; expect == 1.1e-84; MEOW:MGgn0006800 (56%) |species == rat; score == 308; expect == 2.5e-84; MEOW:ref|NP_036725.1| (54%) |species == Mouse; gene == Klk11; score == 307; expect == 2.8e-84; MEOW:MGgn0006797 (56%) |species == rat; score == 307; expect == 4.2e-84; MEOW:ref|XP_218567.1| (55%) |species == Mouse; gene == Klk1; score == 306; expect == 6.3e-84; MEOW:MGgn0006807 (55%) |species == rat; score == 305; expect == 2.1e-83; MEOW:ref|XP_214932.2| (53%) |species == rat; score == 303; expect == 4.8e-83; MEOW:ref|NP_113711.1| (52%) |species == Mouse; gene == Klk24; score == 302; expect == 1.4e-82; MEOW:MGgn0006801 (54%) |species == Mouse; gene == Klk27; score == 298; expect == 1.3e-81; MEOW:MGgn0006803 (54%) |species == rat; score == 296; expect == 1.2e-80; MEOW:ref|XP_214947.2| (55%) |species == Mouse; gene == Klk6; score == 293; expect == 4.2e-80; MEOW:MGgn0006796 (53%) |species == Mouse; gene == Klk5; score == 293; expect == 5.5e-80; MEOW:MGgn0006806 (53%) |species == Mouse; gene == Klk9; score == 291; expect == 1.6e-79; MEOW:MGgn0003730 (53%) |species == rat; score == 290; expect == 5.5e-79; MEOW:ref|XP_214939.2| (55%) |species == rat; score == 287; expect == 4.5e-78; MEOW:ref|NP_036809.1| (52%) |species == Mouse; gene == Klk26; score == 285; expect == 1.5e-77; MEOW:MGgn0006802 (53%) |species == Mouse; gene == Klk13; score == 284; expect == 2.6e-77; MEOW:MGgn0003729 (52%) |species == Mouse; gene == Klk8; score == 278; expect == 2.1e-75; MEOW:MGgn0006808 (53%) |species == rat; score == 276; expect == 1.5e-74; MEOW:ref|XP_214931.2| (54%) |species == Mouse; gene == Ngfa; score == 271; expect == 1.9e-73; MEOW:MGgn0008293 (50%) |species == Mouse; gene == Klk16; score == 269; expect == 9.9e-73; MEOW:MGgn0006799 (50%) |species == rat; score == 267; expect == 3.7e-72; MEOW:ref|NP_786935.1| (49%) |species == Mosquito; gene == LOC10881; score == 149; expect == 1.1e-36; MEOW:AGgn0010881 (36%) |species == Mosquito; gene == LOC17112; score == 141; expect == 3.0e-34; MEOW:AGgn0017112 (35%) |species == Mosquito; gene == LOC22345; score == 139; expect == 1.1e-33; MEOW:AGgn0022345 (36%) |species == Zfish; gene == f7; score == 138; expect == 1.9e-34; MEOW:ZFgn0002317 (37%) |species == Fruitfly; gene == CG17239; score == 134; expect == 2.9e-32; MEOW:FBgn0042186 (35%) |species == Mosquito; gene == LOC18384; score == 129; expect == 6.9e-31; MEOW:AGgn0018384 (34%) |species == Fruitfly; gene == &agr;Try; score == 129; expect == 9.4e-31; MEOW:FBgn0003863 (32%) |species == chimp; score == 124; expect == 7.9e-31; MEOW:sp|Q95ND7|Q95ND7 (32%) } # EOR GENR { RETE|ID 1 HUgn0000355 CHR 1 10 DID 1 LocusLink:355 MAP 1 10q24.1 NAM 1 tumor necrosis factor receptor superfamily, member 6 ORG 1 Homo sapiens SYM 1 TNFRSF6 ID|HUgn0000355 DID|LocusLink:355 ORG|Homo sapiens RSQ|REFSEQ:NM_000043 |REFSEQ:NM_152871 |REFSEQ:NM_152872 |REFSEQ:NM_152873 |REFSEQ:NM_152874 |REFSEQ:NM_152875 |REFSEQ:NM_152876 |REFSEQ:NM_152877 RPA|REFPROT:NP_000034 |REFPROT:NP_690610 |REFPROT:NP_690611 |REFPROT:NP_690612 |REFPROT:NP_690613 |REFPROT:NP_690614 |REFPROT:NP_690615 |REFPROT:NP_690616 DBA|XM:NM_000043 |XM:NM_152871 |XM:NM_152872 |XM:NM_152873 |XM:NM_152874 |XM:NM_152875 |XM:NM_152876 |XM:NM_152877 |NA:AF061978 |NA:D31968 |NA:BC012479 |NA:M67454 |NA:X63717 |NA:X83490 |NA:X83491 |NA:X83492 |NA:X83493 |NA:X89101 |NA:Z47993 |NA:Z47994 |NA:Z47995 |NA:Z66556 |NA:Z70519 |NA:Z70520 |NA:none PAC|XP:NP_000034 |XP:NP_690610 |XP:NP_690611 |XP:NP_690612 |XP:NP_690613 |XP:NP_690614 |XP:NP_690615 |XP:NP_690616 SYM|TNFRSF6 NAM|tumor necrosis factor receptor superfamily, member 6 SYN|FAS |APT1 |CD95 |APO-1 |FASTM FNC|tumor necrosis factor receptor superfamily, member 6 isoform 1 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 2 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 3 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 4 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 5 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 6 precursor |tumor necrosis factor receptor superfamily, member 6 isoform 7 precursor |anti-apoptosis ; GO:0006916 |induction of apoptosis ; GO:0006917 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 REAB|The protein encoded by this gene is a member of the TNF-receptor superfamily. This |receptor contains a death domain. It has been shown to play a central role in the |physiological regulation of programmed cell death, and has been implicated in the |pathogenesis of various malignancies and diseases of the immune system. The interaction |of this receptor with its ligand allows the formation of a death-inducing signaling |complex that includes Fas-associated death domain protein (FADD), caspase 8, and |caspase 10. The autoproteolytic processing of the caspases in the complex triggers |a downstream caspase cascade, and leads to apoptosis. This receptor has been also |shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved |in transducing the proliferating signals in normal diploid fibroblast and T cells. |At least eight alternatively spliced transcript variants encoding seven distinct |isoforms have been described. The isoforms lacking the transmembrane domain may |negatively regulate the apoptosis mediated by the full length isoform. CHR|10 PRD|Fas antigen |apoptosis antigen 1 |APO-1 cell surface antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82359 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=355[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132671 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000043 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000043 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82359 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.82359 |OMIM:134637 |SNP:355 |PROW:800189472 |UWCM:132671.html MAP|10q24.1 PHP|Autoimmune lymphoproliferative syndrome |Squamous cell carcinoma, burn scar-related, somatic ENZ|transmembrane receptor activity ; GO:0004888 |apoptosis regulator activity ; GO:0016329 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |cytosol ; GO:0005829 |soluble fraction ; GO:0005625 |integral to plasma membrane ; GO:0005887 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Tnfrsf6; score == 313; expect == 5.6e-86; MEOW:MGgn0004204 (48%) |species == rat; score == 298; expect == 2.9e-81; MEOW:ref|XP_345027.1| (47%) |species == rat; score == 298; expect == 2.9e-81; MEOW:ref|XP_347304.1| (47%) } # EOR GENR { RETE|ID 1 HUgn0000356 CHR 1 1 DID 1 LocusLink:356 MAP 1 1q23 NAM 1 tumor necrosis factor (ligand) superfamily, member 6 ORG 1 Homo sapiens SYM 1 TNFSF6 ID|HUgn0000356 DID|LocusLink:356 ORG|Homo sapiens RSQ|REFSEQ:NM_000639 RPA|REFPROT:NP_000630 DBA|XM:NM_000639 |NA:Z96050 |NA:BC017502 |NA:D38122 |NA:U08137 |NA:U11821 |NA:X89102 |NA:none PAC|XP:NP_000630 SYM|TNFSF6 NAM|tumor necrosis factor (ligand) superfamily, member 6 SYN|FASL |CD178 |CD95L |APT1LG1 FNC|apoptosis (APO-1) antigen ligand 1 |induction of apoptosis ; GO:0006917 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Apoptosis antigen ligand 1 is the ligand for FAS. Both are transmembrane proteins. | Interaction of FAS with its ligand is critical in triggering apoptosis of some |types of cells such as lymphocytes. Defects in TNFSF6 may be related to some cases |of systemic lupus erythematosus (SLE). CHR|1 PRD|CD95 ligand |apoptosis (APO-1) antigen ligand 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2007 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=356[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:422178 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000639 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000639 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2007 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA56 DBL|UNIGENE:Hs.2007 |OMIM:134638 |SNP:356 MAP|1q23 PHP|Systemic lupus erythematosus, susceptibility ENZ|tumor necrosis factor receptor binding ; GO:0005164 CEL|extracellular ; GO:0005576 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Tnfsf6; score == 390; expect == 4e-109; MEOW:MGgn0004205 (75%) |species == rat; score == 320; expect == 7.0e-88; MEOW:ref|NP_037040.1| (75%) } # EOR GENR { RETE|ID 1 HUgn0000357 CHR 1 X DID 1 LocusLink:357 MAP 1 Xp22.3 NAM 1 apical protein-like (Xenopus laevis) ORG 1 Homo sapiens SYM 1 APXL ID|HUgn0000357 DID|LocusLink:357 ORG|Homo sapiens RSQ|REFSEQ:NM_001649 RPA|REFPROT:NP_001640 DBA|XM:NM_001649 |NA:AC002365 |NA:X83543 |NA:none PAC|XP:NP_001640 SYM|APXL NAM|apical protein-like (Xenopus laevis) SYN|HSAPXL FNC|apical protein of Xenopus-like REAB|The protein encoded by this gene shares significant similarities with the apical |protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel |activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. CHR|X PRD|APX homolog of Xenopus URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2391 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=357[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:582527 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001649 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001649 DBL|UNIGENE:Hs.2391 |OMIM:300103 |SNP:357 MAP|Xp22.3 ENZ|protein binding ; GO:0005515 |amiloride-sensitive sodium channel activity ; GO:0015280 HG|species == rat; score == 758; expect == 0.0; MEOW:ref|XP_228847.2| (86%) |species == Mouse; gene == Apxl; score == 752; expect == 0.0; MEOW:MGgn0000475 (85%) |species == Human; gene == ShrmL; score == 350; expect == 4.8e-96; MEOW:HUgn0057619 (35%) |species == Mosquito; gene == LOC11904; score == 134; expect == 1.8e-31; MEOW:AGgn0011904 (40%) } # EOR GENR { RETE|ID 1 HUgn0000358 CHR 1 7 DID 1 LocusLink:358 MAP 1 7p14 NAM 1 aquaporin 1 (channel-forming integral protein, 28kDa) ORG 1 Homo sapiens SYM 1 AQP1 ID|HUgn0000358 DID|LocusLink:358 ORG|Homo sapiens RSQ|REFSEQ:NM_000385 |REFSEQ:NM_198098 RPA|REFPROT:NP_000376 |REFPROT:NP_932766 DBA|XM:NM_000385 |XM:NM_000385 |NA:AC004691 |NA:AC005155 |NA:AU122128 |NA:BC022486 |NA:BI837828 |NA:M77829 |NA:S73482 |NA:U41517 |NA:U41518 |NA:none PAC|XP:NP_000376 |XP:NP_000376 SYM|AQP1 NAM|aquaporin 1 (channel-forming integral protein, 28kDa) SYN|CO |CHIP28 |AQP-CHIP |MGC26324 FNC|aquaporin 1 |water transport ; GO:0006833 |transport ; GO:0006810 |excretion ; GO:0007588 REAB|Aquaporins are a family of small integral membrane proteins related to the major |intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions |as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning |domains and N-glycosylation sites. The protein physically resembles channel proteins |and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin |is a possible candidate for disorders involving imbalance in ocular fluid movement. |Alternative splicing results in two transcript variants which encode the same protein. CHR|7 PRD|Colton blood group |Aquaporin-1 (channel-forming integral protein, 28kDa) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76152 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=358[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129082 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198098 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76152 |http://www.bioc.aecom.yu.edu/bgmut/colton.htm DBL|UNIGENE:Hs.76152 |OMIM:107776 |SNP:358 |UWCM:129082.html MAP|7p14 PHP|Aquaporin-1 deficiency |Blood group, Colton ENZ|water transporter activity ; GO:0005372 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Aqp1; score == 495; expect == 6e-141; MEOW:MGgn0000477 (94%) |species == rat; score == 490; expect == 3e-139; MEOW:ref|NP_036910.1| (93%) |species == Human; gene == MIP; score == 233; expect == 1.1e-61; MEOW:HUgn0004284 (48%) |species == Human; gene == AQP2; score == 230; expect == 5.3e-61; MEOW:HUgn0000359 (47%) |species == Human; gene == AQP5; score == 224; expect == 4.9e-59; MEOW:HUgn0000362 (46%) |species == Human; gene == AQP4; score == 216; expect == 1.0e-56; MEOW:HUgn0000361 (48%) |species == Mosquito; gene == LOC16718; score == 208; expect == 2.1e-54; MEOW:AGgn0016718 (45%) |species == Human; gene == AQP6; score == 199; expect == 1.7e-51; MEOW:HUgn0000363 (45%) |species == Fruitfly; gene == Drip; score == 194; expect == 3.3e-50; MEOW:FBgn0015872 (41%) |species == Weed; gene == At3g53420; score == 188; expect == 3.0e-48; MEOW:ATgn0013123 (45%) |species == Weed; gene == At2g39010; score == 184; expect == 5.7e-47; MEOW:ATgn0009487 (44%) |species == rice; score == 184; expect == 7.2e-47; MEOW:gnl|TIGR|8352.m01401 (44%) |species == Weed; gene == At2g37170; score == 183; expect == 7.5e-47; MEOW:ATgn0008388 (43%) |species == Weed; gene == At5g60660; score == 183; expect == 9.7e-47; MEOW:ATgn0020985 (45%) |species == Weed; gene == At2g37180; score == 181; expect == 3.7e-46; MEOW:ATgn0008390 (43%) |species == rice; score == 180; expect == 1.8e-45; MEOW:gnl|TIGR|8351.m03921 (42%) |species == Mosquito; gene == LOC16769; score == 179; expect == 7.9e-46; MEOW:AGgn0016769 (48%) |species == Fruitfly; gene == CG7777; score == 179; expect == 6.3e-46; MEOW:FBgn0033635 (37%) |species == rice; score == 179; expect == 2.0e-45; MEOW:gnl|TIGR|8355.m02421 (42%) |species == rice; score == 179; expect == 4.0e-45; MEOW:gnl|TIGR|8355.m02425 (42%) |species == Weed; gene == At3g54820; score == 178; expect == 2.4e-45; MEOW:ATgn0014097 (42%) |species == Weed; gene == At4g23400; score == 178; expect == 3.1e-45; MEOW:ATgn0017930 (44%) |species == rice; score == 178; expect == 6.8e-45; MEOW:gnl|TIGR|8351.m04217 (42%) |species == rice; score == 177; expect == 1.5e-44; MEOW:gnl|TIGR|8352.m04060 (41%) |species == Weed; gene == At3g61430; score == 176; expect == 9.1e-45; MEOW:ATgn0014565 (44%) |species == Weed; gene == At2g16850; score == 174; expect == 3.5e-44; MEOW:ATgn0007528 (43%) |species == Weed; gene == At4g35100; score == 174; expect == 5.9e-44; MEOW:ATgn0019905 (44%) |species == Weed; gene == At4g00430; score == 173; expect == 1.1e-43; MEOW:ATgn0020102 (44%) |species == rice; score == 173; expect == 1.2e-43; MEOW:gnl|TIGR|8355.m02418 (40%) |species == Weed; gene == At1g01620; score == 172; expect == 1.4e-43; MEOW:ATgn0002389 (44%) |species == Weed; gene == At2g45960; score == 172; expect == 1.4e-43; MEOW:ATgn0010537 (43%) |species == rice; score == 170; expect == 1.8e-42; MEOW:gnl|TIGR|8357.m03063 (41%) |species == rice; score == 167; expect == 1.2e-41; MEOW:gnl|TIGR|8351.m05554 (42%) |species == rice; score == 161; expect == 8.6e-40; MEOW:gnl|TIGR|8352.m04378 (42%) } # EOR GENR { RETE|ID 1 HUgn0000359 CHR 1 12 DID 1 LocusLink:359 MAP 1 12q12-q13 NAM 1 aquaporin 2 (collecting duct) ORG 1 Homo sapiens SYM 1 AQP2 ID|HUgn0000359 DID|LocusLink:359 ORG|Homo sapiens RSQ|REFSEQ:NM_000486 RPA|REFPROT:NP_000477 DBA|XM:NM_000486 |NA:AF147093 |NA:D31846 |NA:Z29491 |NA:BC042496 |NA:S73196 |NA:S73197 |NA:none PAC|XP:NP_000477 SYM|AQP2 NAM|aquaporin 2 (collecting duct) SYN|AQP-CD |WCH-CD |MGC34501 FNC|aquaporin 2 |water transport ; GO:0006833 |transport ; GO:0006810 |excretion ; GO:0007588 REAB|This gene encodes a water channel protein located in the kidney collecting tubule. |It belongs to the MIP/aquaporin family, some members of which are clustered together |on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, |and recessive forms of nephrogenic diabetes insipidus. CHR|12 PRD|aquaporin-CD |collecting duct water channel protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130730 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=359[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141853 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000486 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000486 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=130730 |http://www.geneclinics.org/query?mim=107777 DBL|UNIGENE:Hs.130730 |OMIM:107777 |SNP:359 |UWCM:141853.html MAP|12q12-q13 PHP|Diabetes insipidus, nephrogenic, autosomal dominant |Diabetes insipidus, nephrogenic, autosomal recessive ENZ|water channel activity ; GO:0015250 |transporter activity ; GO:0005215 CEL|secretory vesicle ; GO:0005803 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 437; expect == 5e-123; MEOW:ref|NP_037041.1| (89%) |species == Mouse; gene == Aqp2; score == 435; expect == 1e-122; MEOW:MGgn0000478 (89%) |species == Human; gene == AQP5; score == 312; expect == 1.1e-85; MEOW:HUgn0000362 (67%) |species == Human; gene == MIP; score == 298; expect == 1.6e-81; MEOW:HUgn0004284 (64%) |species == Human; gene == AQP6; score == 268; expect == 3.0e-72; MEOW:HUgn0000363 (62%) |species == Mosquito; gene == LOC16718; score == 185; expect == 1.1e-47; MEOW:AGgn0016718 (45%) |species == Fruitfly; gene == Drip; score == 157; expect == 3.4e-39; MEOW:FBgn0015872 (41%) |species == Weed; gene == At3g54820; score == 145; expect == 3.2e-35; MEOW:ATgn0014097 (38%) |species == Weed; gene == At2g16850; score == 144; expect == 6.8e-35; MEOW:ATgn0007528 (38%) |species == rice; score == 144; expect == 5.6e-35; MEOW:gnl|TIGR|8352.m04060 (37%) |species == Fruitfly; gene == CG7777; score == 143; expect == 1.1e-34; MEOW:FBgn0033635 (38%) |species == Weed; gene == At4g23400; score == 142; expect == 2.1e-34; MEOW:ATgn0017930 (38%) |species == Weed; gene == At4g00430; score == 142; expect == 2.7e-34; MEOW:ATgn0020102 (38%) |species == rice; score == 142; expect == 1.6e-34; MEOW:gnl|TIGR|8351.m03921 (36%) |species == Weed; gene == At1g01620; score == 141; expect == 3.5e-34; MEOW:ATgn0002389 (37%) |species == Weed; gene == At2g45960; score == 141; expect == 4.6e-34; MEOW:ATgn0010537 (37%) |species == Weed; gene == At3g61430; score == 140; expect == 7.9e-34; MEOW:ATgn0014565 (37%) |species == Weed; gene == At4g35100; score == 140; expect == 7.6e-34; MEOW:ATgn0019905 (37%) |species == rice; score == 137; expect == 5.4e-33; MEOW:gnl|TIGR|8352.m04310 (39%) |species == Weed; gene == At2g25810; score == 136; expect == 1.1e-32; MEOW:ATgn0009149 (38%) |species == Weed; gene == At3g53420; score == 135; expect == 3.3e-32; MEOW:ATgn0013123 (36%) |species == rice; score == 135; expect == 6.6e-32; MEOW:gnl|TIGR|8350.m01217 (38%) |species == rice; score == 135; expect == 2.1e-32; MEOW:gnl|TIGR|8350.m06998 (38%) |species == rice; score == 135; expect == 3.4e-32; MEOW:gnl|TIGR|8355.m02425 (36%) |species == Fruitfly; gene == bib; score == 134; expect == 3.1e-32; MEOW:FBgn0000180 (42%) |species == Weed; gene == At2g37170; score == 133; expect == 1.3e-31; MEOW:ATgn0008388 (35%) |species == rice; score == 133; expect == 9.8e-32; MEOW:gnl|TIGR|8351.m05554 (36%) |species == rice; score == 132; expect == 2.2e-31; MEOW:gnl|TIGR|8351.m04217 (35%) |species == rice; score == 132; expect == 1.6e-31; MEOW:gnl|TIGR|8355.m02421 (36%) |species == Weed; gene == At3g16240; score == 131; expect == 3.9e-31; MEOW:ATgn0014252 (38%) |species == rice; score == 130; expect == 8.0e-31; MEOW:gnl|TIGR|8352.m01401 (36%) |species == rice; score == 130; expect == 8.0e-31; MEOW:gnl|TIGR|8352.m04378 (36%) } # EOR GENR { RETE|ID 1 HUgn0000360 CHR 1 9 DID 1 LocusLink:360 MAP 1 9p13 NAM 1 aquaporin 3 ORG 1 Homo sapiens SYM 1 AQP3 ID|HUgn0000360 DID|LocusLink:360 ORG|Homo sapiens RSQ|REFSEQ:NM_004925 RPA|REFPROT:NP_004916 DBA|XM:NM_004925 |NA:D50486 |NA:AB001325 |NA:AK095363 |NA:BC012988 |NA:BC013566 |NA:none PAC|XP:NP_004916 SYM|AQP3 NAM|aquaporin 3 FNC|aquaporin 3 |transport ; GO:0006810 |excretion ; GO:0007588 REAB|Aquaporin 3 is a water channel protein. Aquaporins are a family of small integral |membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin |3 is localized at the basal lateral membranes of collecting duct cells in the kidney. |In addition to its water channel function, aquaporin 3 has been found to facilitate |the transport of nonionic small solutes such as urea and glycerol, but to a smaller |degree. It has been suggested that water channels can be functionally heterogeneous |and possess water and solute permeation mechanisms. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=234642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=360[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371718 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004925 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004925 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=234642 DBL|UNIGENE:Hs.234642 |OMIM:600170 |SNP:360 MAP|9p13 PHP|Blood group GIL ENZ|transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Aqp3; score == 572; expect == 1e-163; MEOW:MGgn0000479 (94%) |species == rat; score == 570; expect == 2e-163; MEOW:ref|NP_113891.1| (94%) |species == Human; gene == AQP9; score == 284; expect == 3.5e-77; MEOW:HUgn0000366 (51%) |species == Human; gene == AQP7; score == 275; expect == 1.6e-74; MEOW:HUgn0000364 (47%) |species == Human; gene == AQP10; score == 275; expect == 2.1e-74; MEOW:HUgn0089872 (50%) |species == Human; gene == LOC375719; score == 250; expect == 7.3e-67; MEOW:HUgn0375719 (45%) |species == Human; gene == LOC375730; score == 250; expect == 7.3e-67; MEOW:HUgn0375730 (45%) |species == Worm; gene == C01G6.1a; score == 220; expect == 4.3e-58; MEOW:CEgn0003729 (44%) |species == Worm; gene == C01G6.1b; score == 220; expect == 4.3e-58; MEOW:CEgn0003730 (44%) |species == Worm; gene == M02F4.8; score == 209; expect == 9.9e-55; MEOW:CEgn0014021 (39%) |species == Yeast; gene == YFL054C; score == 202; expect == 6.5e-53; MEOW:SGgn0001840 (35%) |species == Worm; gene == Y69E1A.7; score == 196; expect == 2.0e-50; MEOW:CEgn0019741 (40%) |species == Worm; gene == K02G10.7b; score == 184; expect == 2.6e-47; MEOW:CEgn0034132 (36%) |species == ecoli; score == 183; expect == 1.3e-47; MEOW:ref|NP_418362.1| (40%) } # EOR GENR { RETE|ID 1 HUgn0000361 CHR 1 18 DID 1 LocusLink:361 MAP 1 18q11.2-q12.1 NAM 1 aquaporin 4 ORG 1 Homo sapiens SYM 1 AQP4 ID|HUgn0000361 DID|LocusLink:361 ORG|Homo sapiens RSQ|REFSEQ:NM_001650 |REFSEQ:NM_004028 RPA|REFPROT:NP_001641 |REFPROT:NP_004019 DBA|XM:NM_001650 |XM:NM_004028 |NA:AK026728 |NA:AL119338 |NA:AV725241 |NA:BC022286 |NA:BC030745 |NA:BC045780 |NA:BI596912 |NA:BI917845 |NA:BQ638704 |NA:D63412 |NA:R35726 |NA:U34845 |NA:U63622 |NA:U63623 |NA:none PAC|XP:NP_001641 |XP:NP_004019 SYM|AQP4 NAM|aquaporin 4 SYN|MIWC |HMIWC2 FNC|aquaporin 4 isoform a |aquaporin 4 isoform b |transport ; GO:0006810 |excretion ; GO:0007588 |neurogenesis ; GO:0007399 REAB|This gene encodes a member of the aquaporin family of intrinsic membrane proteins |that function as water-selective channels in the plasma membranes of many cells. |The encoded protein is the predominant aquaporin found in brain. Two alternatively |spliced transcript variants encoding distinct isoforms have been found for this |gene. CHR|18 PRD|mercurial-insensitive water channel URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315369 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=361[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371722 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004028 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=315369 DBL|UNIGENE:Hs.315369 |OMIM:600308 |SNP:361 MAP|18q11.2-q12.1 ENZ|water transporter activity ; GO:0005372 |water channel activity ; GO:0015250 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 619; expect == 9e-178; MEOW:ref|NP_036957.1| (94%) |species == Mouse; gene == Aqp4; score == 610; expect == 2e-175; MEOW:MGgn0000480 (93%) |species == Mosquito; gene == LOC16718; score == 244; expect == 3.4e-65; MEOW:AGgn0016718 (52%) |species == Human; gene == AQP5; score == 238; expect == 3.3e-63; MEOW:HUgn0000362 (50%) |species == Human; gene == MIP; score == 237; expect == 7.3e-63; MEOW:HUgn0004284 (44%) |species == Human; gene == AQP2; score == 233; expect == 1.4e-61; MEOW:HUgn0000359 (51%) |species == Human; gene == AQP1; score == 216; expect == 1.0e-56; MEOW:HUgn0000358 (48%) |species == Fruitfly; gene == Drip; score == 193; expect == 9.4e-50; MEOW:FBgn0015872 (44%) |species == Human; gene == AQP6; score == 191; expect == 3.5e-49; MEOW:HUgn0000363 (44%) |species == Weed; gene == At2g16850; score == 171; expect == 5.2e-43; MEOW:ATgn0007528 (41%) |species == Fruitfly; gene == CG7777; score == 170; expect == 6.5e-43; MEOW:FBgn0033635 (41%) |species == rice; score == 167; expect == 1.6e-41; MEOW:gnl|TIGR|8357.m03063 (40%) |species == Weed; gene == At2g45960; score == 166; expect == 1.0e-41; MEOW:ATgn0010537 (41%) |species == Weed; gene == At3g61430; score == 166; expect == 1.8e-41; MEOW:ATgn0014565 (41%) |species == Weed; gene == At4g00430; score == 166; expect == 1.8e-41; MEOW:ATgn0020102 (41%) |species == Weed; gene == At1g01620; score == 165; expect == 2.3e-41; MEOW:ATgn0002389 (41%) |species == Weed; gene == At4g35100; score == 164; expect == 4.9e-41; MEOW:ATgn0019905 (40%) |species == rice; score == 162; expect == 2.6e-40; MEOW:gnl|TIGR|8351.m05554 (40%) |species == rice; score == 162; expect == 6.5e-40; MEOW:gnl|TIGR|8352.m01401 (39%) |species == rice; score == 162; expect == 6.5e-40; MEOW:gnl|TIGR|8354.m02160 (40%) |species == rice; score == 161; expect == 1.1e-39; MEOW:gnl|TIGR|8351.m04217 (39%) |species == rice; score == 160; expect == 1.9e-39; MEOW:gnl|TIGR|8355.m02425 (39%) |species == Weed; gene == At4g23400; score == 158; expect == 3.7e-39; MEOW:ATgn0017930 (39%) |species == Weed; gene == At2g37180; score == 157; expect == 7.4e-39; MEOW:ATgn0008390 (40%) |species == Weed; gene == At3g16240; score == 157; expect == 7.4e-39; MEOW:ATgn0014252 (40%) |species == rice; score == 157; expect == 1.6e-38; MEOW:gnl|TIGR|8350.m06998 (39%) |species == Weed; gene == At3g53420; score == 156; expect == 1.3e-38; MEOW:ATgn0013123 (40%) |species == Fruitfly; gene == bib; score == 156; expect == 1.3e-38; MEOW:FBgn0000180 (38%) |species == rice; score == 155; expect == 3.2e-38; MEOW:gnl|TIGR|8352.m04060 (38%) |species == rice; score == 154; expect == 1.8e-37; MEOW:gnl|TIGR|8351.m04155 (41%) |species == Weed; gene == At3g54820; score == 152; expect == 2.0e-37; MEOW:ATgn0014097 (37%) |species == rice; score == 152; expect == 2.0e-37; MEOW:gnl|TIGR|8351.m03921 (38%) |species == rice; score == 151; expect == 3.6e-37; MEOW:gnl|TIGR|8352.m04310 (39%) |species == Weed; gene == At2g37170; score == 149; expect == 2.2e-36; MEOW:ATgn0008388 (39%) |species == Weed; gene == At5g60660; score == 149; expect == 1.3e-36; MEOW:ATgn0020985 (40%) |species == Weed; gene == At2g39010; score == 148; expect == 2.9e-36; MEOW:ATgn0009487 (40%) |species == rice; score == 146; expect == 1.1e-35; MEOW:gnl|TIGR|8352.m04378 (38%) |species == Weed; gene == At2g36830; score == 145; expect == 2.6e-35; MEOW:ATgn0008296 (38%) |species == rice; score == 143; expect == 9.2e-35; MEOW:gnl|TIGR|8355.m02421 (37%) |species == rice; score == 139; expect == 1.5e-33; MEOW:gnl|TIGR|8355.m02418 (35%) } # EOR GENR { RETE|ID 1 HUgn0000362 CHR 1 12 DID 1 LocusLink:362 MAP 1 12q13 NAM 1 aquaporin 5 ORG 1 Homo sapiens SYM 1 AQP5 ID|HUgn0000362 DID|LocusLink:362 ORG|Homo sapiens RSQ|REFSEQ:NM_001651 RPA|REFPROT:NP_001642 DBA|XM:NM_001651 |NA:U46569 |NA:BC032946 |NA:none PAC|XP:NP_001642 SYM|AQP5 NAM|aquaporin 5 FNC|aquaporin 5 |water transport ; GO:0006833 |transport ; GO:0006810 |excretion ; GO:0007588 REAB|Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small |integral membrane proteins related to the major intrinsic protein (MIP or AQP0). |Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. |AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. CHR|12 PRD|Aquaporin-5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298023 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=362[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371724 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001651 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001651 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=298023 DBL|UNIGENE:Hs.298023 |OMIM:600442 |SNP:362 MAP|12q13 ENZ|water channel activity ; GO:0015250 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Aqp5; score == 422; expect == 8e-119; MEOW:MGgn0000481 (91%) |species == rat; score == 420; expect == 4e-118; MEOW:ref|NP_036911.1| (91%) |species == Human; gene == AQP2; score == 312; expect == 1.1e-85; MEOW:HUgn0000359 (67%) |species == Human; gene == AQP6; score == 268; expect == 1.7e-72; MEOW:HUgn0000363 (58%) |species == Human; gene == MIP; score == 264; expect == 4.2e-71; MEOW:HUgn0004284 (55%) |species == Mosquito; gene == LOC16718; score == 196; expect == 4.7e-51; MEOW:AGgn0016718 (47%) |species == Fruitfly; gene == Drip; score == 163; expect == 6.0e-41; MEOW:FBgn0015872 (42%) |species == Weed; gene == At1g17810; score == 151; expect == 3.1e-37; MEOW:ATgn0006618 (41%) |species == rice; score == 151; expect == 8.6e-37; MEOW:gnl|TIGR|8357.m03063 (41%) |species == rice; score == 150; expect == 1.0e-36; MEOW:gnl|TIGR|8351.m05554 (40%) |species == rice; score == 150; expect == 7.8e-37; MEOW:gnl|TIGR|8352.m04060 (37%) |species == Weed; gene == At2g45960; score == 149; expect == 2.2e-36; MEOW:ATgn0010537 (38%) |species == Fruitfly; gene == CG7777; score == 148; expect == 2.0e-36; MEOW:FBgn0033635 (41%) |species == Weed; gene == At1g01620; score == 147; expect == 6.5e-36; MEOW:ATgn0002389 (38%) |species == Weed; gene == At2g16850; score == 147; expect == 4.7e-36; MEOW:ATgn0007528 (38%) |species == Weed; gene == At3g61430; score == 147; expect == 6.5e-36; MEOW:ATgn0014565 (38%) |species == Weed; gene == At4g23400; score == 147; expect == 5.0e-36; MEOW:ATgn0017930 (38%) |species == Weed; gene == At4g35100; score == 146; expect == 1.4e-35; MEOW:ATgn0019905 (38%) |species == Weed; gene == At4g00430; score == 146; expect == 1.9e-35; MEOW:ATgn0020102 (38%) |species == rice; score == 146; expect == 1.1e-35; MEOW:gnl|TIGR|8351.m03921 (35%) |species == rice; score == 144; expect == 5.6e-35; MEOW:gnl|TIGR|8355.m02425 (37%) |species == Weed; gene == At3g53420; score == 143; expect == 9.4e-35; MEOW:ATgn0013123 (38%) |species == Weed; gene == At3g16240; score == 143; expect == 8.4e-35; MEOW:ATgn0014252 (39%) |species == Fruitfly; gene == bib; score == 142; expect == 1.1e-34; MEOW:FBgn0000180 (38%) |species == rice; score == 142; expect == 2.8e-34; MEOW:gnl|TIGR|8351.m04217 (38%) |species == Weed; gene == At2g37170; score == 141; expect == 3.5e-34; MEOW:ATgn0008388 (37%) |species == Weed; gene == At2g37180; score == 141; expect == 4.1e-34; MEOW:ATgn0008390 (36%) |species == Weed; gene == At3g54820; score == 140; expect == 1.0e-33; MEOW:ATgn0014097 (35%) |species == rice; score == 139; expect == 2.6e-33; MEOW:gnl|TIGR|8352.m01401 (36%) |species == rice; score == 137; expect == 1.7e-32; MEOW:gnl|TIGR|8352.m04310 (38%) |species == rice; score == 136; expect == 2.9e-32; MEOW:gnl|TIGR|8354.m02160 (36%) |species == rice; score == 135; expect == 3.2e-32; MEOW:gnl|TIGR|8352.m04378 (37%) |species == rice; score == 134; expect == 1.1e-31; MEOW:gnl|TIGR|8350.m01217 (37%) |species == rice; score == 134; expect == 4.3e-32; MEOW:gnl|TIGR|8355.m02421 (35%) |species == Weed; gene == At5g60660; score == 132; expect == 1.7e-31; MEOW:ATgn0020985 (36%) |species == Weed; gene == At2g36830; score == 131; expect == 3.0e-31; MEOW:ATgn0008296 (38%) } # EOR GENR { RETE|ID 1 HUgn0000363 CHR 1 12 DID 1 LocusLink:363 MAP 1 12q13 NAM 1 aquaporin 6, kidney specific ORG 1 Homo sapiens SYM 1 AQP6 ID|HUgn0000363 DID|LocusLink:363 ORG|Homo sapiens RSQ|REFSEQ:NM_001652 |REFSEQ:NM_053286 RPA|REFPROT:NP_001643 |REFPROT:NP_445738 DBA|XM:NM_001652 |XM:NM_053286 |NA:U48409 |NA:AL137716 |NA:U48408 |NA:none PAC|XP:NP_001643 |XP:NP_445738 SYM|AQP6 NAM|aquaporin 6, kidney specific SYN|AQP2L FNC|aquaporin 6 isoform 1 |aquaporin 6 isoform 2 |small molecule transport ; GO:0006832 |excretion ; GO:0007588 REAB|The protein encoded by this gene is an Aquaporin protein, which functions as a water |channel in cells. Aquaporins are a family of small integral membrane proteins related |to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. |This gene and other three members of Aquaproin AQP0, AQP2, and AQP5 are closely |related and all map to 12q13. Two alternatively spliced transcript variants of this |gene have been reported. CHR|12 PRD|Aquaporin-6, kidney specific |aquaporin 2-like, kidney specific URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54505 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=363[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3801882 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_053286 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_053286 DBL|UNIGENE:Hs.54505 |OMIM:601383 |SNP:363 MAP|12q13 ENZ|water channel activity ; GO:0015250 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 385; expect == 2e-107; MEOW:ref|NP_071517.1| (77%) |species == Mouse; gene == Aqp6; score == 379; expect == 9e-106; MEOW:MGgn0000482 (77%) |species == Human; gene == AQP2; score == 268; expect == 3.0e-72; MEOW:HUgn0000359 (62%) |species == Human; gene == AQP5; score == 268; expect == 1.7e-72; MEOW:HUgn0000362 (58%) |species == Human; gene == MIP; score == 229; expect == 1.7e-60; MEOW:HUgn0004284 (52%) |species == Mosquito; gene == LOC16718; score == 161; expect == 1.8e-40; MEOW:AGgn0016718 (42%) |species == Fruitfly; gene == Drip; score == 147; expect == 2.9e-36; MEOW:FBgn0015872 (43%) |species == Weed; gene == At2g16850; score == 132; expect == 2.1e-31; MEOW:ATgn0007528 (36%) } # EOR GENR { RETE|ID 1 HUgn0000364 CHR 1 9 DID 1 LocusLink:364 MAP 1 9p13 NAM 1 aquaporin 7 ORG 1 Homo sapiens SYM 1 AQP7 ID|HUgn0000364 DID|LocusLink:364 ORG|Homo sapiens RSQ|REFSEQ:NM_001170 RPA|REFPROT:NP_001161 DBA|XM:NM_001170 |NA:AB006190 |NA:none |NA:AK055744 PAC|XP:NP_001161 SYM|AQP7 NAM|aquaporin 7 SYN|AQP9 |AQP7L |AQPap FNC|aquaporin 7 |glycerol transport ; GO:0015793 |water transport ; GO:0006833 |transport ; GO:0006810 |excretion ; GO:0007588 |energy pathways ; GO:0006091 REAB|Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane |channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they |may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting |that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, |glycerol and urea transport. It may play an important role in sperm function. CHR|9 PRD|aquaporin adipose URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=455323 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=364[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6044880 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001170 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001170 DBL|UNIGENE:Hs.455323 |OMIM:602974 |SNP:364 MAP|9p13 ENZ|glycerol channel activity ; GO:0015254 |water channel activity ; GO:0015250 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 HG|species == Human; gene == LOC375719; score == 562; expect == 1e-160; MEOW:HUgn0375719 (92%) |species == Human; gene == LOC375730; score == 562; expect == 1e-160; MEOW:HUgn0375730 (92%) |species == rat; score == 431; expect == 3e-121; MEOW:ref|NP_062030.2| (77%) |species == Mouse; gene == Aqp7; score == 414; expect == 3e-116; MEOW:MGgn0000483 (77%) |species == Worm; gene == Y69E1A.7; score == 176; expect == 2.9e-44; MEOW:CEgn0019741 (38%) |species == Worm; gene == K02G10.7b; score == 164; expect == 4.0e-41; MEOW:CEgn0034132 (32%) |species == Worm; gene == C01G6.1a; score == 159; expect == 1.9e-39; MEOW:CEgn0003729 (38%) |species == Worm; gene == C01G6.1b; score == 159; expect == 1.9e-39; MEOW:CEgn0003730 (38%) |species == Worm; gene == M02F4.8; score == 158; expect == 2.9e-39; MEOW:CEgn0014021 (36%) |species == Worm; gene == F32A5.5a; score == 150; expect == 1.1e-36; MEOW:CEgn0032011 (34%) |species == Worm; gene == F32A5.5b; score == 150; expect == 1.0e-36; MEOW:CEgn0032012 (34%) |species == Yeast; gene == YFL054C; score == 145; expect == 6.9e-35; MEOW:SGgn0001840 (38%) |species == ecoli; score == 140; expect == 1.0e-33; MEOW:ref|NP_418362.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0000366 CHR 1 15 DID 1 LocusLink:366 MAP 1 15q22.1-22.2 NAM 1 aquaporin 9 ORG 1 Homo sapiens SYM 1 AQP9 ID|HUgn0000366 DID|LocusLink:366 ORG|Homo sapiens RSQ|REFSEQ:NM_020980 RPA|REFPROT:NP_066190 DBA|XM:NM_020980 |NA:AF102870 |NA:AB008775 |NA:AF016495 |NA:BC026258 |NA:none PAC|XP:NP_066190 SYM|AQP9 NAM|aquaporin 9 FNC|aquaporin 9 |water transport ; GO:0006833 |transport ; GO:0006810 |immune response ; GO:0006955 REAB|The aquaporins/major intrinsic protein are a family of water-selective membrane channels. |Aquaporin 9 has greater sequence similarity with AQP3 and AQP7 and they may be a |subfamily. Aquaporin 9 allows passage of a wide variety of noncharged solutes. AQP9 |stimulates urea transport and osmotic water permeability; there are contradicting |reports about its role in providing glycerol permeability. Aquaporin 9 may also |have some role in specialized leukocyte functions such as immunological response |and bactericidal activity. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104624 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=366[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6860465 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020980 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020980 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=104624 DBL|UNIGENE:Hs.104624 |OMIM:602914 |SNP:366 MAP|15q22.1-22.2 ENZ|water channel activity ; GO:0015250 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 461; expect == 2e-130; MEOW:ref|NP_075249.1| (76%) |species == Mouse; gene == Aqp9; score == 454; expect == 1e-128; MEOW:MGgn0014941 (75%) |species == Human; gene == AQP10; score == 287; expect == 7.1e-78; MEOW:HUgn0089872 (52%) |species == Human; gene == AQP3; score == 284; expect == 3.5e-77; MEOW:HUgn0000360 (51%) |species == Human; gene == AQP7; score == 246; expect == 1.1e-65; MEOW:HUgn0000364 (44%) |species == Human; gene == LOC375719; score == 231; expect == 2.7e-61; MEOW:HUgn0375719 (44%) |species == Human; gene == LOC375730; score == 231; expect == 2.7e-61; MEOW:HUgn0375730 (44%) |species == Worm; gene == C01G6.1a; score == 207; expect == 3.8e-54; MEOW:CEgn0003729 (42%) |species == Worm; gene == C01G6.1b; score == 207; expect == 3.8e-54; MEOW:CEgn0003730 (42%) |species == Worm; gene == M02F4.8; score == 206; expect == 6.5e-54; MEOW:CEgn0014021 (39%) |species == Worm; gene == Y69E1A.7; score == 203; expect == 2.2e-52; MEOW:CEgn0019741 (40%) |species == ecoli; score == 186; expect == 1.6e-48; MEOW:ref|NP_418362.1| (41%) |species == Worm; gene == K02G10.7b; score == 184; expect == 4.5e-47; MEOW:CEgn0034132 (37%) |species == Worm; gene == F32A5.5a; score == 176; expect == 1.2e-44; MEOW:CEgn0032011 (36%) |species == Worm; gene == F32A5.5b; score == 176; expect == 1.2e-44; MEOW:CEgn0032012 (36%) |species == Yeast; gene == YFL054C; score == 175; expect == 8.6e-45; MEOW:SGgn0001840 (35%) } # EOR GENR { RETE|ID 1 HUgn0000367 CHR 1 X DID 1 LocusLink:367 MAP 1 Xq11.2-q12 NAM 1 androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) ORG 1 Homo sapiens SYM 1 AR ID|HUgn0000367 DID|LocusLink:367 ORG|Homo sapiens RSQ|REFSEQ:NM_000044 RPA|REFPROT:NP_000035 DBA|XM:NM_000044 |NA:M27430 |NA:M35851 |NA:M58158 |NA:S79366 |NA:S79368 |NA:AF162704 |NA:AF321914 |NA:AF321915 |NA:AF321916 |NA:AF321917 |NA:L29496 |NA:M20132 |NA:M20260 |NA:M21748 |NA:M23263 |NA:M34233 |NA:none PAC|XP:NP_000035 SYM|AR NAM|androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) SYN|KD |AIS |TFM |DHTR |SBMA |NR3C4 |SMAX1 |HUMARA FNC|androgen receptor |transport ; GO:0006810 |sex differentiation ; GO:0007548 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The androgen receptor gene is more than 90 kb long and codes for a protein that has |3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding |domain. The protein functions as a steroid-hormone activated transcription factor. |Upon binding the hormone ligand, the receptor dissociates from accessory proteins, |translocates into the nucleus, dimerizes, and then stimulates transcription of androgen |responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments |that encode polyglutamine and polyglycine tracts in the N-terminal transactivation |domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar |muscular atrophy (Kennedy disease). Mutations in this gene are also associated with |complete androgen insensitivity (CAIS). CHR|X PRD|dihydrotestosterone receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99915 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=367[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120556 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000044 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000044 |http://www.geneclinics.org/query?mim=313200 |http://www.geneclinics.org/query?mim=313700 |http://www.mcgill.ca/androgendb/ DBL|UNIGENE:Hs.99915 |OMIM:313700 |SNP:367 |UWCM:120556.html |IXDB:9501 MAP|Xq11.2-q12 PHP|Androgen insensitivity |Breast cancer, male, with Reifenstein syndrome |Perineal hypospadias |Prostate cancer |Prostate cancer, susceptibility to |Spinal and bulbar muscular atrophy of Kennedy ENZ|androgen receptor activity ; GO:0004882 |steroid binding ; GO:0005496 |receptor activity ; GO:0004872 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == chimp; score == 1468; expect == 0.0; MEOW:sp|O97775|ANDR_PANTR (97%) |species == Mouse; gene == Ar; score == 1381; expect == 0.0; MEOW:MGgn0000486 (83%) |species == rat; score == 1374; expect == 0.0; MEOW:ref|NP_036634.1| (84%) |species == Human; gene == PGR; score == 434; expect == 1e-121; MEOW:HUgn0005241 (55%) |species == Human; gene == NR3C2; score == 389; expect == 3e-108; MEOW:HUgn0004306 (51%) |species == Human; gene == NR3C1; score == 386; expect == 2e-107; MEOW:HUgn0002908 (52%) } # EOR GENR { RETE|ID 1 HUgn0000368 CHR 1 16 DID 1 LocusLink:368 MAP 1 16p13.1 NAM 1 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ORG 1 Homo sapiens SYM 1 ABCC6 ID|HUgn0000368 DID|LocusLink:368 ORG|Homo sapiens RSQ|REFSEQ:NM_001171 RPA|REFPROT:NP_001162 DBA|XM:NM_001171 |NA:U91318 |NA:AF076622 |NA:AF168791 |NA:AY078405 |NA:BC015978 |NA:none PAC|XP:NP_001162 SYM|ABCC6 NAM|ATP-binding cassette, sub-family C (CFTR/MRP), member 6 SYN|ARA |PXE |MLP1 |MRP6 |ABC34 |MOATE |EST349056 FNC|ATP-binding cassette, sub-family C, member 6 |drug resistance ; GO:0009315 |small molecule transport ; GO:0006832 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which |is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive |potassium channels and insulin release. Mutations and deficiencies in this protein |have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an |autosomal recessive disorder of unregulated and high insulin secretion. Mutations |have also been associated with non-insulin-dependent diabetes mellitus type II, |an autosomal dominant disease of defective insulin secretion. Alternative splicing |of this gene has been observed; however, the transcript variants have not yet been |fully described. CHR|16 PRD|anthracycline resistance-associated URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442182 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=368[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9315106 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001171 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001171 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.191+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://www.geneclinics.org/query?mim=603234 |http://www.humanabc.org |http://www.retina-international.com/sci-news/abcc6mut.htm DBL|UNIGENE:Hs.442182 |OMIM:603234 |SNP:368 MAP|16p13.1 PHP|Pseudoxanthoma elasticum, autosomal dominant |Pseudoxanthoma elasticum, autosomal recessive ENZ|ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Abcc6; score == 2200; expect == 0.0; MEOW:MGgn0013325 (78%) |species == rat; score == 2147; expect == 0.0; MEOW:ref|NP_112275.1| (78%) |species == Human; gene == ABCC1; score == 1199; expect == 0.0; MEOW:HUgn0004363 (44%) |species == Human; gene == ABCC3; score == 1160; expect == 0.0; MEOW:HUgn0008714 (42%) |species == Fruitfly; gene == CG6214; score == 966; expect == 0.0; MEOW:FBgn0032456 (38%) |species == Mosquito; score == 897; expect == 0.0; MEOW:AGgn0027587 (36%) |species == Worm; gene == mrp-1; score == 857; expect == 0.0; MEOW:CEgn0002051 (36%) |species == Worm; gene == mrp-2; score == 833; expect == 0.0; MEOW:CEgn0002052 (36%) |species == Yeast; gene == YCF1; score == 781; expect == 0.0; MEOW:SGgn0002542 (35%) |species == Weed; gene == At3g62700; score == 659; expect == 0.0; MEOW:ATgn0015337 (31%) |species == Weed; gene == At1g30400; score == 654; expect == 0.0; MEOW:ATgn0006489 (33%) |species == Weed; gene == At2g47800; score == 642; expect == 0.0; MEOW:ATgn0007275 (31%) |species == rice; score == 633; expect == 0.0; MEOW:gnl|TIGR|8360.m00387 (33%) |species == Zfish; gene == abcc4; score == 631; expect == 0.0; MEOW:ZFgn0013883 (33%) |species == rice; score == 628; expect == 7e-180; MEOW:gnl|TIGR|8354.m00541 (31%) |species == Weed; gene == At2g34660; score == 620; expect == 2e-177; MEOW:ATgn0028369 (33%) |species == Weed; gene == At1g30410; score == 617; expect == 2e-176; MEOW:ATgn0006491 (33%) |species == rice; score == 612; expect == 4e-175; MEOW:gnl|TIGR|8352.m01119 (31%) |species == Weed; gene == At1g30420; score == 611; expect == 9e-175; MEOW:ATgn0006493 (32%) |species == Weed; gene == At3g13100; score == 610; expect == 2e-174; MEOW:ATgn0011650 (31%) |species == Weed; gene == At3g13080; score == 609; expect == 3e-174; MEOW:ATgn0011647 (31%) |species == rice; score == 607; expect == 2e-173; MEOW:gnl|TIGR|8352.m04913 (33%) |species == rice; score == 604; expect == 2e-172; MEOW:gnl|TIGR|8350.m00691 (33%) |species == Weed; gene == At3g60160; score == 592; expect == 4e-169; MEOW:ATgn0013159 (31%) |species == Weed; gene == At3g13090; score == 587; expect == 2e-167; MEOW:ATgn0011649 (31%) |species == rice; score == 584; expect == 1e-166; MEOW:gnl|TIGR|8358.m00476 (30%) |species == Weed; gene == At3g59140; score == 575; expect == 7e-164; MEOW:ATgn0012279 (30%) |species == Weed; gene == At3g21250; score == 573; expect == 2e-163; MEOW:ATgn0013971 (30%) |species == Weed; gene == At1g04120; score == 563; expect == 4e-160; MEOW:ATgn0005402 (32%) |species == rice; score == 561; expect == 1e-159; MEOW:gnl|TIGR|8353.m00862 (30%) |species == rice; score == 558; expect == 1e-158; MEOW:gnl|TIGR|8350.m06371 (30%) |species == Weed; gene == At3g60970; score == 548; expect == 8e-156; MEOW:ATgn0013984 (31%) |species == rice; score == 546; expect == 4e-155; MEOW:gnl|TIGR|8351.m01711 (31%) |species == rice; score == 539; expect == 4e-153; MEOW:gnl|TIGR|8359.m03564 (30%) |species == ecoli; score == 187; expect == 4.5e-48; MEOW:ref|NP_414983.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000369 CHR 1 X DID 1 LocusLink:369 MAP 1 Xp11.4-p11.2 NAM 1 v-raf murine sarcoma 3611 viral oncogene homolog 1 ORG 1 Homo sapiens SYM 1 ARAF1 ID|HUgn0000369 DID|LocusLink:369 ORG|Homo sapiens RSQ|REFSEQ:NM_001654 RPA|REFPROT:NP_001645 DBA|XM:NM_001654 |NA:L24038 |NA:U01337 |NA:AK130043 |NA:BC002466 |NA:BC007514 |NA:X04790 |NA:none PAC|XP:NP_001645 SYM|ARAF1 NAM|v-raf murine sarcoma 3611 viral oncogene homolog 1 SYN|PKS2 |A-RAF |RAFA1 FNC|v-raf murine sarcoma 3611 viral oncogene homolog 1 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 CHR|X PRD|Oncogene ARAF1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=423807 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=369[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119004 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001654 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001654 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=423807 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.423807 |OMIM:311010 |SNP:369 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor signaling protein activity ; GO:0005057 |transferase activity ; GO:0016740 |diacylglycerol binding ; GO:0019992 MAP|Xp11.4-p11.2 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 1169; expect == 0.0; MEOW:ref|NP_071977.1| (95%) |species == Mouse; gene == Araf; score == 1167; expect == 0.0; MEOW:MGgn0000487 (95%) |species == Human; gene == RAF1; score == 724; expect == 0.0; MEOW:HUgn0005894 (61%) |species == Human; gene == BRAF; score == 679; expect == 0.0; MEOW:HUgn0000673 (58%) |species == Human; gene == BRAF2; score == 603; expect == 1e-172; MEOW:HUgn0286494 (54%) |species == Mosquito; score == 483; expect == 6e-137; MEOW:AGgn0003633 (44%) |species == Fruitfly; gene == phl; score == 481; expect == 2e-136; MEOW:FBgn0003079 (43%) |species == Zfish; gene == craf; score == 464; expect == 2e-131; MEOW:ZFgn0000251 (74%) |species == Worm; gene == lin-45; score == 345; expect == 3.8e-95; MEOW:CEgn0001861 (52%) |species == rice; score == 179; expect == 4.0e-45; MEOW:gnl|TIGR|8357.m03093 (36%) |species == Weed; gene == At4g35780; score == 176; expect == 4.1e-44; MEOW:ATgn0017130 (36%) |species == Weed; gene == At1g73660; score == 171; expect == 1.4e-42; MEOW:ATgn0006971 (32%) |species == Weed; gene == At2g17700; score == 171; expect == 1.1e-42; MEOW:ATgn0028393 (36%) |species == Weed; gene == At4g38470; score == 162; expect == 5.1e-40; MEOW:ATgn0020261 (34%) |species == Weed; gene == At1g18160; score == 159; expect == 4.3e-39; MEOW:ATgn0006749 (33%) |species == Weed; gene == At5g03730; score == 158; expect == 7.4e-39; MEOW:ATgn0024018 (31%) |species == rice; score == 157; expect == 4.7e-38; MEOW:gnl|TIGR|8359.m03563 (36%) |species == rice; score == 155; expect == 1.8e-37; MEOW:gnl|TIGR|8351.m04858 (31%) |species == rice; score == 154; expect == 2.3e-37; MEOW:gnl|TIGR|8355.m02702 (31%) |species == Weed; gene == At4g23050; score == 151; expect == 1.2e-36; MEOW:ATgn0017830 (33%) |species == Weed; gene == At5g11850; score == 151; expect == 1.2e-36; MEOW:ATgn0025217 (32%) |species == rice; score == 151; expect == 2.0e-36; MEOW:gnl|TIGR|8352.m04835 (26%) |species == Weed; gene == At4g31170; score == 150; expect == 2.0e-36; MEOW:ATgn0018674 (29%) |species == rice; score == 150; expect == 5.7e-36; MEOW:gnl|TIGR|8351.m03037 (36%) |species == Weed; gene == At5g49470; score == 149; expect == 3.4e-36; MEOW:ATgn0022825 (32%) |species == Weed; gene == At3g06620; score == 148; expect == 1.0e-35; MEOW:ATgn0016803 (34%) |species == rice; score == 146; expect == 6.4e-35; MEOW:gnl|TIGR|8360.m00536 (31%) } # EOR GENR { RETE|ID 1 HUgn0000370 CHR 1 7 DID 1 LocusLink:370 MAP 1 7p12-q11.21 NAM 1 v-raf murine sarcoma 3611 viral oncogene homolog pseudogene ORG 1 Homo sapiens SYM 1 ARAFPS ID|HUgn0000370 DID|LocusLink:370 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L24037 SYM|ARAFPS NAM|v-raf murine sarcoma 3611 viral oncogene homolog pseudogene SYN|PKS1 |ARAF2 |ARAF2P CHR|7 PRD|v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene ENZ|EC:2.7.1.- MAP|7p12-q11.21 DBL|SNP:370 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119005 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 } # EOR GENR { RETE|ID 1 HUgn0000371 DID 1 LocusLink:371 NAM 1 archain 2 ORG 1 Homo sapiens SYM 1 ARCN2 ID|HUgn0000371 DID|LocusLink:371 ORG|Homo sapiens SYM|ARCN2 NAM|archain 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:377807 } # EOR GENR { RETE|ID 1 HUgn0000372 CHR 1 11 DID 1 LocusLink:372 MAP 1 11q23.3 NAM 1 archain 1 ORG 1 Homo sapiens SYM 1 ARCN1 ID|HUgn0000372 DID|LocusLink:372 ORG|Homo sapiens RSQ|REFSEQ:NM_001655 RPA|REFPROT:NP_001646 DBA|XM:NM_001655 |NA:BI560739 |NA:BQ018687 |NA:BX640860 |NA:X81197 |NA:X81198 |NA:none PAC|XP:NP_001646 SYM|ARCN1 NAM|archain 1 SYN|COPD FNC|archain |intracellular protein transport ; GO:0006886 REAB|This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia |virus integration 1 genes, where multiple disease-associated chromosome translocations |occur. It is an intracellular protein. Archain sequences are well conserved among |eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. |It has similarities to heat shock proteins and clathrin-associated proteins, and |may be involved in vesicle structure or trafficking. CHR|11 PRD|coatomer protein delta-COP |archain vesicle transport protein 1 |coatomer protein complex, subunit delta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=33642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=372[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:377806 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9957157 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001655 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001655 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24931 DBL|UNIGENE:Hs.33642 |OMIM:600820 |SNP:372 MAP|11q23.3 ENZ|protein transporter activity ; GO:0008565 CEL|membrane ; GO:0016020 |Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Arcn1; score == 944; expect == 0.0; MEOW:MGgn0042119 (99%) |species == rat; score == 942; expect == 0.0; MEOW:ref|XP_217133.2| (98%) |species == Mosquito; gene == LOC18445; score == 601; expect == 2e-172; MEOW:AGgn0018445 (59%) |species == Fruitfly; gene == &dgr;COP; score == 513; expect == 4e-146; MEOW:FBgn0028969 (56%) |species == Worm; gene == C13B9.3; score == 467; expect == 5e-132; MEOW:CEgn0004675 (49%) |species == rice; score == 409; expect == 2e-114; MEOW:gnl|TIGR|8353.m02066 (40%) |species == rice; score == 390; expect == 2e-108; MEOW:gnl|TIGR|8353.m02067 (39%) |species == Weed; gene == At5g05010; score == 379; expect == 2e-105; MEOW:ATgn0025291 (38%) |species == rice; score == 370; expect == 3e-102; MEOW:gnl|TIGR|8350.m05785 (39%) |species == rice; score == 345; expect == 9.9e-95; MEOW:gnl|TIGR|8356.m02652 (35%) |species == Yeast; gene == RET2; score == 226; expect == 5.0e-60; MEOW:SGgn0001947 (30%) } # EOR GENR { RETE|ID 1 HUgn0000373 CHR 1 5 DID 1 LocusLink:373 MAP 1 5q12.3 NAM 1 ADP-ribosylation factor domain protein 1, 64kDa ORG 1 Homo sapiens SYM 1 ARFD1 ID|HUgn0000373 DID|LocusLink:373 ORG|Homo sapiens RSQ|REFSEQ:NM_001656 |REFSEQ:NM_033227 |REFSEQ:NM_033228 RPA|REFPROT:NP_001647 |REFPROT:NP_150230 |REFPROT:NP_150231 DBA|XM:NM_001656 |XM:NM_033227 |XM:NM_033228 |NA:AF230397 |NA:AF230398 |NA:AF230399 |NA:AI679928 |NA:BC022510 |NA:L04510 |NA:none PAC|XP:NP_001647 |XP:NP_150230 |XP:NP_150231 SYM|ARFD1 NAM|ADP-ribosylation factor domain protein 1, 64kDa SYN|ARD1 |RNF46 |TRIM23 FNC|ADP-ribosylation factor domain protein 1 isoform alpha |ADP-ribosylation factor domain protein 1 isoform beta |ADP-ribosylation factor domain protein 1 isoform gamma |small GTPase mediated signal transduction ; GO:0007264 REAB|The protein encoded by this gene is a member of the tripartite motif (TRIM) family. |The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a |B-box type 2, and a coiled-coil region. This protein is also a member of the ADP |ribosylation factor family of guanine nucleotide-binding family of proteins. Its |carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide |binding site, while the amino terminus contains a GTPase activating protein domain |which acts on the guanine nucleotide binding site. The protein localizes to lysosomes |and the Golgi apparatus. It plays a role in the formation of intracellular transport |vesicles, their movement from one compartment to another, and phopholipase D activation. |Three alternatively spliced transcript variants for this gene have been described. CHR|5 PRD|ARF domain protein 1 |GTP-binding protein ARD-1 |tripartite motif protein TRIM23 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=792 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=373[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139213 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001656 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001656 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=792 DBL|UNIGENE:Hs.792 |OMIM:601747 |SNP:373 MAP|5q12.3 ENZ|small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 |enzyme activator activity ; GO:0008047 |zinc ion binding ; GO:0008270 CEL|intracellular ; GO:0005622 HG|species == rat; score == 1109; expect == 0.0; MEOW:ref|XP_342184.1| (95%) |species == Mouse; gene == Trim23; score == 1103; expect == 0.0; MEOW:MGgn0028383 (97%) |species == Worm; gene == arc-1; score == 348; expect == 4.4e-96; MEOW:CEgn0000079 (36%) |species == Mosquito; score == 218; expect == 1.9e-57; MEOW:AGgn0015770 (64%) |species == Fruitfly; gene == Arf79F; score == 218; expect == 1.8e-57; MEOW:FBgn0010348 (64%) |species == Human; gene == ARF1; score == 216; expect == 2.1e-56; MEOW:HUgn0000375 (62%) |species == Human; gene == ARF3; score == 215; expect == 4.7e-56; MEOW:HUgn0000377 (62%) |species == Weed; gene == At1g10630; score == 214; expect == 1.4e-55; MEOW:ATgn0004275 (61%) |species == Weed; gene == At2g47170; score == 214; expect == 1.4e-55; MEOW:ATgn0027995 (61%) |species == Weed; gene == ARF1; score == 213; expect == 1.8e-55; MEOW:ATgn0002195 (62%) |species == Weed; gene == At1g23490; score == 213; expect == 1.8e-55; MEOW:ATgn0006558 (62%) |species == Weed; gene == At3g62290; score == 213; expect == 1.8e-55; MEOW:ATgn0014715 (62%) |species == Weed; gene == ARF1; score == 213; expect == 1.8e-55; MEOW:ATgn0021222 (62%) |species == rice; score == 212; expect == 1.2e-54; MEOW:gnl|TIGR|8350.m01510 (61%) |species == rice; score == 212; expect == 1.0e-55; MEOW:gnl|TIGR|8353.m03647 (61%) |species == rice; score == 212; expect == 1.8e-55; MEOW:gnl|TIGR|8355.m01123 (60%) |species == rice; score == 212; expect == 7.8e-56; MEOW:gnl|TIGR|8360.m05383 (60%) |species == Fruitfly; gene == Arf102F; score == 207; expect == 3.2e-54; MEOW:FBgn0013749 (60%) |species == Human; gene == ARF5; score == 207; expect == 1.7e-53; MEOW:HUgn0000381 (59%) |species == Mosquito; gene == LOC11061; score == 206; expect == 2.1e-53; MEOW:AGgn0011061 (60%) |species == rice; score == 206; expect == 7.8e-54; MEOW:gnl|TIGR|8350.m05602 (58%) |species == Human; gene == ARF4; score == 205; expect == 4.9e-53; MEOW:HUgn0000378 (59%) |species == rice; score == 201; expect == 1.6e-51; MEOW:gnl|TIGR|8355.m01126 (55%) |species == Yeast; gene == ARF2; score == 200; expect == 4.0e-52; MEOW:SGgn0002296 (58%) |species == Yeast; gene == ARF1; score == 199; expect == 5.2e-52; MEOW:SGgn0002351 (58%) |species == Weed; gene == At2g15310; score == 198; expect == 1.0e-50; MEOW:ATgn0011201 (56%) |species == Human; gene == ARF6; score == 194; expect == 1.1e-49; MEOW:HUgn0000382 (57%) |species == Mosquito; score == 193; expect == 1.8e-49; MEOW:AGgn0021667 (56%) |species == Fruitfly; gene == Arf51F; score == 190; expect == 2.9e-49; MEOW:FBgn0013750 (56%) |species == Weed; gene == At5g17060; score == 184; expect == 1.2e-46; MEOW:ATgn0023401 (53%) |species == rice; score == 183; expect == 5.6e-47; MEOW:gnl|TIGR|8362.m03532 (54%) |species == Weed; gene == At3g03120; score == 182; expect == 4.5e-46; MEOW:ATgn0013780 (53%) |species == Weed; gene == ARF3; score == 180; expect == 2.2e-45; MEOW:ATgn0027987 (55%) |species == rice; score == 180; expect == 3.7e-45; MEOW:gnl|TIGR|8351.m04472 (53%) |species == Yeast; gene == ARF3; score == 178; expect == 1.7e-45; MEOW:SGgn0005620 (50%) |species == Yeast; gene == ARL1; score == 177; expect == 4.0e-45; MEOW:SGgn0000368 (54%) } # EOR GENR { RETE|ID 1 HUgn0000374 CHR 1 4 DID 1 LocusLink:374 MAP 1 4q13-q21 NAM 1 amphiregulin (schwannoma-derived growth factor) ORG 1 Homo sapiens SYM 1 AREG ID|HUgn0000374 DID|LocusLink:374 ORG|Homo sapiens RSQ|REFSEQ:NM_001657 RPA|REFPROT:NP_001648 DBA|XM:NM_001657 |NA:M30698 |NA:M30699 |NA:M30700 |NA:M30701 |NA:M30702 |NA:M30703 |NA:BC009799 |NA:M30704 |NA:none PAC|XP:NP_001648 SYM|AREG NAM|amphiregulin (schwannoma-derived growth factor) SYN|AR |SDGF |CRDGF |MGC13647 FNC|amphiregulin preproprotein |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the epidermal growth factor family. |It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, |and fibroblasts. It is related to epidermal growth factor (EGF) and transforming |growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor |to promote the growth of normal epithelial cells and inhibits the growth of certain |aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like |skin phenotype. CHR|4 PRD|schwannoma-derived growth factor |colorectum cell-derived growth factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=270833 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=374[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119697 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001657 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001657 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=270833 DBL|UNIGENE:Hs.270833 |OMIM:104640 |SNP:374 MAP|4q13-q21 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 CEL|integral to membrane ; GO:0016021 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Areg; score == 226; expect == 6.0e-60; MEOW:MGgn0000490 (62%) |species == rat; score == 215; expect == 2.1e-56; MEOW:ref|NP_058819.1| (59%) } # EOR GENR { RETE|ID 1 HUgn0000375 CHR 1 1 DID 1 LocusLink:375 MAP 1 1q42 NAM 1 ADP-ribosylation factor 1 ORG 1 Homo sapiens SYM 1 ARF1 ID|HUgn0000375 DID|LocusLink:375 ORG|Homo sapiens RSQ|REFSEQ:NM_001658 RPA|REFPROT:NP_001649 DBA|XM:NM_001658 |NA:M84327 |NA:M84332 |NA:AF052179 |NA:AF055002 |NA:AK000620 |NA:AK057838 |NA:AK057875 |NA:AK130737 |NA:BC009247 |NA:BC010415 |NA:BC010429 |NA:BC011358 |NA:M36340 |NA:M84326 |NA:none PAC|XP:NP_001649 SYM|ARF1 NAM|ADP-ribosylation factor 1 FNC|ADP-ribosylation factor 1 |small GTPase mediated signal transduction ; GO:0007264 |intracellular protein transport ; GO:0006886 REAB|ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. These |genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase |activity of cholera toxin and play a role in vesicular trafficking and as activators |of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins |and constitute 1 family of the RAS superfamily. The ARF proteins are categorized |as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) |and members of each class share a common gene organization. The ARF1 gene spans |approximately 16.5 kb and contains five exons and four introns. The ARF1 protein |is localized to the Golgi apparatus and has a central role in intra-Golgi transport. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=286221 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=375[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132606 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001658 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001658 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.1210+OR+arev.section.1214 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=286221 DBL|UNIGENE:Hs.286221 |OMIM:103180 |SNP:375 MAP|1q42 ENZ|small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 |protein transporter activity ; GO:0008565 |receptor signaling protein activity ; GO:0005057 CEL|Golgi apparatus ; GO:0005794 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Arf1; score == 367; expect == 1e-102; MEOW:MGgn0000491 (100%) |species == rat; score == 367; expect == 1e-102; MEOW:ref|NP_071963.1| (100%) |species == Mosquito; score == 356; expect == 1.9e-99; MEOW:AGgn0015770 (96%) |species == Human; gene == ARF3; score == 355; expect == 7.4e-99; MEOW:HUgn0000377 (96%) |species == Mouse; gene == Arf3; score == 355; expect == 5.0e-99; MEOW:MGgn0000493 (96%) |species == rat; score == 355; expect == 7.4e-99; MEOW:ref|NP_543180.1| (96%) |species == Fruitfly; gene == Arf79F; score == 354; expect == 1.3e-98; MEOW:FBgn0010348 (96%) |species == Mouse; gene == Arf2; score == 352; expect == 3.2e-98; MEOW:MGgn0000492 (95%) |species == rat; score == 352; expect == 4.8e-98; MEOW:ref|NP_077064.1| (95%) |species == Worm; gene == arf-1; score == 348; expect == 6.4e-97; MEOW:CEgn0000073 (93%) |species == rice; score == 325; expect == 1.7e-89; MEOW:gnl|TIGR|8353.m03647 (89%) |species == Weed; gene == ARF1; score == 323; expect == 4.1e-89; MEOW:ATgn0002195 (90%) |species == Weed; gene == At1g10630; score == 323; expect == 3.1e-89; MEOW:ATgn0004275 (88%) |species == Weed; gene == At1g23490; score == 323; expect == 4.1e-89; MEOW:ATgn0006558 (90%) |species == Weed; gene == At3g62290; score == 323; expect == 2.4e-89; MEOW:ATgn0014715 (88%) |species == Weed; gene == At2g47170; score == 322; expect == 9.1e-89; MEOW:ATgn0027995 (88%) |species == Weed; gene == ARF1; score == 321; expect == 1.6e-88; MEOW:ATgn0021222 (89%) |species == rice; score == 321; expect == 2.1e-88; MEOW:gnl|TIGR|8350.m01510 (87%) |species == rice; score == 319; expect == 1.2e-87; MEOW:gnl|TIGR|8355.m01123 (87%) |species == rice; score == 319; expect == 1.2e-87; MEOW:gnl|TIGR|8360.m05383 (87%) |species == rice; score == 317; expect == 3.1e-87; MEOW:gnl|TIGR|8350.m05602 (86%) |species == Worm; gene == arf-3; score == 313; expect == 3.0e-86; MEOW:CEgn0000074 (85%) |species == rice; score == 308; expect == 1.2e-84; MEOW:gnl|TIGR|8355.m01126 (79%) |species == Mosquito; gene == LOC11061; score == 300; expect == 2.2e-82; MEOW:AGgn0011061 (83%) |species == Human; gene == ARF4; score == 300; expect == 2.1e-82; MEOW:HUgn0000378 (81%) |species == Mouse; gene == Arf4; score == 300; expect == 1.9e-82; MEOW:MGgn0000494 (82%) |species == rat; score == 300; expect == 2.8e-82; MEOW:ref|NP_077065.1| (82%) |species == Human; gene == ARF5; score == 299; expect == 4.8e-82; MEOW:HUgn0000381 (81%) |species == Mouse; gene == Arf5; score == 299; expect == 3.3e-82; MEOW:MGgn0000495 (81%) |species == rat; score == 299; expect == 4.8e-82; MEOW:ref|NP_077063.1| (81%) |species == Fruitfly; gene == Arf102F; score == 296; expect == 2.5e-81; MEOW:FBgn0013749 (82%) |species == Yeast; gene == ARF2; score == 296; expect == 1.2e-81; MEOW:SGgn0002296 (77%) |species == Yeast; gene == ARF1; score == 295; expect == 1.2e-80; MEOW:SGgn0002351 (77%) } # EOR GENR { RETE|ID 1 HUgn0000376 CHR 1 3 DID 1 LocusLink:376 MAP 1 3p21.2-p21.1 NAM 1 ADP-ribosylation factor 2 ORG 1 Homo sapiens SYM 1 ARF2 ID|HUgn0000376 DID|LocusLink:376 ORG|Homo sapiens DBA|NA:U91920 |NA:U91921 SYM|ARF2 NAM|ADP-ribosylation factor 2 CHR|3 DBL|OMIM:600507 MAP|3p21.2-p21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:364040 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U91921 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U91921 } # EOR GENR { RETE|ID 1 HUgn0000377 CHR 1 12 DID 1 LocusLink:377 MAP 1 12q13 NAM 1 ADP-ribosylation factor 3 ORG 1 Homo sapiens SYM 1 ARF3 ID|HUgn0000377 DID|LocusLink:377 ORG|Homo sapiens RSQ|REFSEQ:NM_001659 RPA|REFPROT:NP_001650 DBA|XM:NM_001659 |NA:M74492 |NA:M74493 |NA:BC007647 |NA:BC007762 |NA:BC017565 |NA:BC028402 |NA:M33384 |NA:M74491 |NA:none PAC|XP:NP_001650 SYM|ARF3 NAM|ADP-ribosylation factor 3 FNC|ADP-ribosylation factor 3 |small GTPase mediated signal transduction ; GO:0007264 |nonselective vesicle assembly ; GO:0006902 |intracellular protein transport ; GO:0006886 REAB|ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These |genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase |activity of cholera toxin and play a role in vesicular trafficking and as activators |of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins |and constitute 1 family of the RAS superfamily. The ARF proteins are categorized |as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) |and members of each class share a common gene organization. The ARF3 gene contains |five exons and four introns. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119177 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=377[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132649 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001659 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001659 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=119177 DBL|UNIGENE:Hs.119177 |OMIM:103190 |SNP:377 MAP|12q13 ENZ|small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 |protein transporter activity ; GO:0008565 CEL|Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Arf3; score == 366; expect == 3e-102; MEOW:MGgn0000493 (100%) |species == rat; score == 366; expect == 4e-102; MEOW:ref|NP_543180.1| (100%) |species == Human; gene == ARF1; score == 355; expect == 7.4e-99; MEOW:HUgn0000375 (96%) |species == Mouse; gene == Arf1; score == 355; expect == 5.0e-99; MEOW:MGgn0000491 (96%) |species == rat; score == 355; expect == 7.4e-99; MEOW:ref|NP_071963.1| (96%) |species == Mosquito; score == 348; expect == 1.2e-96; MEOW:AGgn0015770 (94%) |species == Mouse; gene == Arf2; score == 347; expect == 1.0e-96; MEOW:MGgn0000492 (94%) |species == rat; score == 347; expect == 1.5e-96; MEOW:ref|NP_077064.1| (94%) |species == Fruitfly; gene == Arf79F; score == 346; expect == 2.7e-96; MEOW:FBgn0010348 (94%) |species == Worm; gene == arf-1; score == 344; expect == 1.2e-95; MEOW:CEgn0000073 (92%) |species == Weed; gene == At3g62290; score == 322; expect == 5.3e-89; MEOW:ATgn0014715 (88%) |species == Weed; gene == At2g47170; score == 320; expect == 2.6e-88; MEOW:ATgn0027995 (87%) |species == rice; score == 320; expect == 2.0e-88; MEOW:gnl|TIGR|8353.m03647 (88%) |species == Weed; gene == At1g10630; score == 318; expect == 1.3e-87; MEOW:ATgn0004275 (87%) |species == Weed; gene == ARF1; score == 317; expect == 1.7e-87; MEOW:ATgn0002195 (87%) |species == Weed; gene == At1g23490; score == 317; expect == 1.7e-87; MEOW:ATgn0006558 (87%) |species == rice; score == 317; expect == 3.6e-87; MEOW:gnl|TIGR|8355.m01123 (86%) |species == Weed; gene == ARF1; score == 316; expect == 3.9e-87; MEOW:ATgn0021222 (87%) |species == rice; score == 316; expect == 5.2e-87; MEOW:gnl|TIGR|8350.m01510 (86%) |species == rice; score == 314; expect == 1.4e-86; MEOW:gnl|TIGR|8360.m05383 (86%) |species == rice; score == 312; expect == 1.5e-85; MEOW:gnl|TIGR|8350.m05602 (84%) |species == Worm; gene == arf-3; score == 307; expect == 1.6e-84; MEOW:CEgn0000074 (84%) |species == rice; score == 307; expect == 3.6e-84; MEOW:gnl|TIGR|8355.m01126 (79%) |species == Mosquito; gene == LOC11061; score == 299; expect == 2.8e-82; MEOW:AGgn0011061 (82%) |species == Fruitfly; gene == Arf102F; score == 296; expect == 3.2e-81; MEOW:FBgn0013749 (81%) |species == Human; gene == ARF4; score == 295; expect == 6.9e-81; MEOW:HUgn0000378 (78%) |species == Mouse; gene == Arf4; score == 295; expect == 6.1e-81; MEOW:MGgn0000494 (79%) |species == rat; score == 295; expect == 9.0e-81; MEOW:ref|NP_077065.1| (79%) |species == Human; gene == ARF5; score == 294; expect == 1.5e-80; MEOW:HUgn0000381 (78%) |species == Mouse; gene == Arf5; score == 294; expect == 1.0e-80; MEOW:MGgn0000495 (78%) |species == rat; score == 294; expect == 1.5e-80; MEOW:ref|NP_077063.1| (78%) |species == Yeast; gene == ARF2; score == 290; expect == 2.9e-79; MEOW:SGgn0002296 (75%) |species == Yeast; gene == ARF1; score == 290; expect == 2.9e-79; MEOW:SGgn0002351 (76%) } # EOR GENR { RETE|ID 1 HUgn0000378 CHR 1 3 DID 1 LocusLink:378 MAP 1 3p21.2-p21.1 NAM 1 ADP-ribosylation factor 4 ORG 1 Homo sapiens SYM 1 ARF4 ID|HUgn0000378 DID|LocusLink:378 ORG|Homo sapiens RSQ|REFSEQ:NM_001660 RPA|REFPROT:NP_001651 DBA|XM:NM_001660 |NA:AF104238 |NA:BC003364 |NA:BC008753 |NA:BC016325 |NA:BC022866 |NA:M36341 |NA:none PAC|XP:NP_001651 SYM|ARF4 NAM|ADP-ribosylation factor 4 FNC|ADP-ribosylation factor 4 |small GTPase mediated signal transduction ; GO:0007264 |intracellular protein transport ; GO:0006886 REAB|ADP-ribosylation factor 4 (ARF4) is a member of the human ARF gene family. These |genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase |activity of cholera toxin and play a role in vesicular trafficking and as activators |of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins |and constitute 1 family of the RAS superfamily. The ARF proteins are categorized |as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). |The members of each class share a common gene organization. The ARF4 gene spans |approximately 12kb and contains six exons and five introns. The ARF4 is the most |divergent member of the human ARFs. Conflicting Map positions at 3p14 or 3p21 have |been reported for this gene. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435639 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=378[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132646 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001660 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001660 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435639 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24937 DBL|UNIGENE:Hs.435639 |OMIM:601177 |SNP:378 MAP|3p21.2-p21.1 ENZ|ARF small monomeric GTPase activity ; GO:0003926 |GTP binding ; GO:0005525 |enzyme activator activity ; GO:0008047 |protein transporter activity ; GO:0008565 CEL|Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Arf4; score == 346; expect == 3.0e-96; MEOW:MGgn0000494 (96%) |species == rat; score == 346; expect == 4.4e-96; MEOW:ref|NP_077065.1| (96%) |species == Human; gene == ARF5; score == 336; expect == 3.5e-93; MEOW:HUgn0000381 (90%) |species == Mouse; gene == Arf5; score == 336; expect == 2.4e-93; MEOW:MGgn0000495 (90%) |species == rat; score == 336; expect == 3.5e-93; MEOW:ref|NP_077063.1| (90%) |species == Worm; gene == arf-3; score == 313; expect == 1.7e-86; MEOW:CEgn0000074 (84%) |species == Mosquito; gene == LOC11061; score == 312; expect == 3.2e-86; MEOW:AGgn0011061 (85%) |species == Fruitfly; gene == Arf102F; score == 309; expect == 3.7e-85; MEOW:FBgn0013749 (84%) |species == rice; score == 304; expect == 1.5e-83; MEOW:gnl|TIGR|8353.m03647 (81%) |species == Mosquito; score == 303; expect == 2.5e-83; MEOW:AGgn0015770 (83%) |species == Weed; gene == At1g10630; score == 302; expect == 9.7e-83; MEOW:ATgn0004275 (80%) |species == Worm; gene == arf-1; score == 302; expect == 6.8e-83; MEOW:CEgn0000073 (81%) |species == Weed; gene == ARF1; score == 301; expect == 1.7e-82; MEOW:ATgn0002195 (81%) |species == Weed; gene == At1g23490; score == 301; expect == 1.7e-82; MEOW:ATgn0006558 (81%) |species == Weed; gene == ARF1; score == 301; expect == 1.7e-82; MEOW:ATgn0021222 (80%) |species == Weed; gene == At2g47170; score == 301; expect == 1.3e-82; MEOW:ATgn0027995 (80%) |species == Fruitfly; gene == Arf79F; score == 301; expect == 1.0e-82; MEOW:FBgn0010348 (82%) |species == rice; score == 301; expect == 2.3e-82; MEOW:gnl|TIGR|8350.m01510 (80%) |species == rice; score == 301; expect == 1.7e-82; MEOW:gnl|TIGR|8360.m05383 (80%) |species == Weed; gene == At3g62290; score == 300; expect == 2.8e-82; MEOW:ATgn0014715 (80%) |species == Human; gene == ARF1; score == 300; expect == 2.1e-82; MEOW:HUgn0000375 (81%) |species == Mouse; gene == Arf1; score == 300; expect == 1.4e-82; MEOW:MGgn0000491 (81%) |species == rat; score == 300; expect == 2.2e-82; MEOW:ref|NP_071963.1| (81%) |species == Mouse; gene == Arf2; score == 298; expect == 5.5e-82; MEOW:MGgn0000492 (80%) |species == rice; score == 298; expect == 1.1e-81; MEOW:gnl|TIGR|8350.m05602 (79%) |species == rice; score == 298; expect == 1.7e-81; MEOW:gnl|TIGR|8355.m01123 (80%) |species == rat; score == 298; expect == 8.2e-82; MEOW:ref|NP_077064.1| (80%) |species == Human; gene == ARF3; score == 295; expect == 6.9e-81; MEOW:HUgn0000377 (78%) |species == Mouse; gene == Arf3; score == 295; expect == 4.7e-81; MEOW:MGgn0000493 (78%) |species == rat; score == 295; expect == 7.0e-81; MEOW:ref|NP_543180.1| (78%) |species == rice; score == 288; expect == 1.7e-78; MEOW:gnl|TIGR|8355.m01126 (73%) |species == Yeast; gene == ARF2; score == 277; expect == 2.6e-75; MEOW:SGgn0002296 (71%) |species == Yeast; gene == ARF1; score == 276; expect == 1.0e-75; MEOW:SGgn0002351 (73%) } # EOR GENR { RETE|ID 1 HUgn0000379 CHR 1 17 DID 1 LocusLink:379 MAP 1 17q12-q21 NAM 1 ADP-ribosylation factor 4-like ORG 1 Homo sapiens SYM 1 ARF4L ID|HUgn0000379 DID|LocusLink:379 ORG|Homo sapiens RSQ|REFSEQ:NM_001661 RPA|REFPROT:NP_001652 DBA|XM:NM_001661 |NA:AB060692 |NA:BC000043 |NA:L38490 |NA:U25771 |NA:none PAC|XP:NP_001652 SYM|ARF4L NAM|ADP-ribosylation factor 4-like SYN|ARL6 FNC|ADP-ribosylation factor 4-like |small GTPase mediated signal transduction ; GO:0007264 |protein secretion ; GO:0009306 |nonselective vesicle transport ; GO:0006899 REAB|ADP-ribosylation factor 4-like is a member of the ADP-ribosylation factor family |of GTP-binding proteins. ARF4L is closely similar to ARL4 and ARL7 and each has |a nuclear localization signal and an unusually high guanine nucleotide exchange |rate. CHR|17 PRD|ADP-ribosylation factor-like 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183153 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=379[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:631201 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001661 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001661 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183153 DBL|UNIGENE:Hs.183153 |OMIM:600732 |SNP:379 MAP|17q12-q21 ENZ|ARF small monomeric GTPase activity ; GO:0003926 |GTP binding ; GO:0005525 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Arf4l; score == 380; expect == 2e-106; MEOW:MGgn0034058 (96%) |species == Mouse; gene == 1110036H21Rik; score == 357; expect == 1.6e-99; MEOW:MGgn0016145 (95%) |species == rat; score == 357; expect == 2.4e-99; MEOW:ref|XP_220933.1| (95%) |species == Human; gene == ARL4; score == 235; expect == 1.0e-62; MEOW:HUgn0010124 (60%) |species == Human; gene == ARL7; score == 224; expect == 3.1e-59; MEOW:HUgn0010123 (59%) |species == Fruitfly; gene == CG2219; score == 186; expect == 1.4e-47; MEOW:FBgn0039889 (61%) |species == Weed; gene == At2g15310; score == 153; expect == 5.2e-38; MEOW:ATgn0011201 (47%) |species == Worm; gene == arf-3; score == 145; expect == 9.9e-36; MEOW:CEgn0000074 (43%) |species == rice; score == 144; expect == 8.7e-35; MEOW:gnl|TIGR|8353.m03647 (44%) |species == Weed; gene == ARF1; score == 142; expect == 9.2e-35; MEOW:ATgn0002195 (43%) |species == Weed; gene == At1g10630; score == 142; expect == 9.2e-35; MEOW:ATgn0004275 (43%) |species == Weed; gene == At1g23490; score == 142; expect == 9.2e-35; MEOW:ATgn0006558 (43%) |species == Weed; gene == At3g62290; score == 142; expect == 9.2e-35; MEOW:ATgn0014715 (43%) |species == Weed; gene == ARF1; score == 142; expect == 9.2e-35; MEOW:ATgn0021222 (43%) |species == Weed; gene == At2g47170; score == 142; expect == 9.2e-35; MEOW:ATgn0027995 (43%) |species == rice; score == 142; expect == 2.5e-34; MEOW:gnl|TIGR|8350.m01510 (43%) |species == rice; score == 142; expect == 2.5e-34; MEOW:gnl|TIGR|8355.m01123 (43%) |species == rice; score == 142; expect == 2.5e-34; MEOW:gnl|TIGR|8360.m05383 (43%) |species == Mosquito; gene == LOC11061; score == 141; expect == 1.5e-34; MEOW:AGgn0011061 (42%) |species == Weed; gene == At3g03120; score == 141; expect == 2.7e-34; MEOW:ATgn0013780 (46%) |species == rice; score == 141; expect == 5.6e-34; MEOW:gnl|TIGR|8354.m00134 (46%) |species == Mosquito; score == 140; expect == 3.4e-34; MEOW:AGgn0015770 (43%) |species == Worm; gene == arf-1; score == 140; expect == 4.1e-34; MEOW:CEgn0000073 (44%) |species == Weed; gene == At5g17060; score == 139; expect == 1.0e-33; MEOW:ATgn0023401 (46%) |species == rice; score == 139; expect == 2.1e-33; MEOW:gnl|TIGR|8350.m05602 (43%) |species == rice; score == 138; expect == 3.6e-33; MEOW:gnl|TIGR|8351.m04472 (45%) |species == Yeast; gene == ARL1; score == 134; expect == 1.3e-32; MEOW:SGgn0000368 (42%) |species == rice; score == 134; expect == 5.3e-32; MEOW:gnl|TIGR|8355.m01126 (40%) |species == rice; score == 134; expect == 9.0e-32; MEOW:gnl|TIGR|8362.m03532 (44%) |species == Mosquito; score == 133; expect == 4.2e-32; MEOW:AGgn0021667 (41%) |species == Worm; gene == arf-6; score == 133; expect == 5.1e-32; MEOW:CEgn0020396 (42%) |species == Yeast; gene == ARF1; score == 132; expect == 4.8e-32; MEOW:SGgn0002351 (40%) |species == Yeast; gene == ARF2; score == 131; expect == 8.1e-32; MEOW:SGgn0002296 (40%) |species == Mosquito; score == 130; expect == 2.7e-31; MEOW:AGgn0003927 (41%) |species == Weed; gene == ARF3; score == 130; expect == 4.7e-31; MEOW:ATgn0027987 (42%) } # EOR GENR { RETE|ID 1 HUgn0000380 CHR 1 9 DID 1 LocusLink:380 MAP 1 9q34 NAM 1 ADP-ribosylation factor 4 pseudogene ORG 1 Homo sapiens SYM 1 ARF4P ID|HUgn0000380 DID|LocusLink:380 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC000387 |NA:M31889 SYM|ARF4P NAM|ADP-ribosylation factor 4 pseudogene CHR|9 MAP|9q34 DBL|SNP:380 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132647 } # EOR GENR { RETE|ID 1 HUgn0000381 CHR 1 7 DID 1 LocusLink:381 MAP 1 7q31.3 NAM 1 ADP-ribosylation factor 5 ORG 1 Homo sapiens SYM 1 ARF5 ID|HUgn0000381 DID|LocusLink:381 ORG|Homo sapiens RSQ|REFSEQ:NM_001662 RPA|REFPROT:NP_001653 DBA|XM:NM_001662 |XM:NM_001662 |NA:U73002 |NA:BC003043 |NA:BC033104 |NA:M57567 |NA:none PAC|XP:NP_001653 |XP:NP_001653 SYM|ARF5 NAM|ADP-ribosylation factor 5 FNC|ADP-ribosylation factor 5 |small GTPase mediated signal transduction ; GO:0007264 |intracellular protein transport ; GO:0006886 REAB|ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These |genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase |activity of cholera toxin and play a role in vesicular trafficking and as activators |of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins |and constitute 1 family of the RAS superfamily. The ARF proteins are categorized |as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). |The members of each class share a common gene organization. The ARF5 gene spans |approximately 3.2kb of genomic DNA and contains six exons and five introns. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430657 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=381[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136902 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001662 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001662 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=430657 DBL|UNIGENE:Hs.430657 |OMIM:103188 |SNP:381 MAP|7q31.3 ENZ|ARF small monomeric GTPase activity ; GO:0003926 |GTP binding ; GO:0005525 |enzyme activator activity ; GO:0008047 |protein transporter activity ; GO:0008565 CEL|Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Arf5; score == 364; expect == 1e-101; MEOW:MGgn0000495 (100%) |species == rat; score == 364; expect == 1e-101; MEOW:ref|NP_077063.1| (100%) |species == Human; gene == ARF4; score == 336; expect == 3.5e-93; MEOW:HUgn0000378 (90%) |species == Mouse; gene == Arf4; score == 335; expect == 1.0e-92; MEOW:MGgn0000494 (90%) |species == rat; score == 335; expect == 1.0e-92; MEOW:ref|NP_077065.1| (90%) |species == Worm; gene == arf-3; score == 318; expect == 5.4e-88; MEOW:CEgn0000074 (84%) |species == Mosquito; gene == LOC11061; score == 315; expect == 4.9e-87; MEOW:AGgn0011061 (84%) |species == Fruitfly; gene == Arf102F; score == 312; expect == 3.3e-86; MEOW:FBgn0013749 (83%) |species == rice; score == 306; expect == 1.1e-83; MEOW:gnl|TIGR|8353.m03647 (81%) |species == Weed; gene == At1g10630; score == 303; expect == 3.3e-83; MEOW:ATgn0004275 (80%) |species == Weed; gene == At2g47170; score == 303; expect == 4.4e-83; MEOW:ATgn0027995 (80%) |species == rice; score == 303; expect == 3.5e-83; MEOW:gnl|TIGR|8350.m01510 (81%) |species == rice; score == 303; expect == 2.6e-83; MEOW:gnl|TIGR|8360.m05383 (81%) |species == Weed; gene == ARF1; score == 302; expect == 5.7e-83; MEOW:ATgn0002195 (81%) |species == Weed; gene == At1g23490; score == 302; expect == 5.7e-83; MEOW:ATgn0006558 (81%) |species == Weed; gene == At3g62290; score == 302; expect == 9.7e-83; MEOW:ATgn0014715 (80%) |species == Weed; gene == ARF1; score == 302; expect == 5.7e-83; MEOW:ATgn0021222 (80%) |species == rice; score == 301; expect == 2.7e-82; MEOW:gnl|TIGR|8355.m01123 (80%) |species == Mosquito; score == 299; expect == 3.6e-82; MEOW:AGgn0015770 (80%) |species == Worm; gene == arf-1; score == 299; expect == 4.4e-82; MEOW:CEgn0000073 (80%) |species == Human; gene == ARF1; score == 299; expect == 4.8e-82; MEOW:HUgn0000375 (81%) |species == Mouse; gene == Arf1; score == 299; expect == 3.2e-82; MEOW:MGgn0000491 (81%) |species == Mouse; gene == Arf2; score == 299; expect == 4.2e-82; MEOW:MGgn0000492 (80%) |species == rice; score == 299; expect == 1.0e-81; MEOW:gnl|TIGR|8350.m05602 (79%) |species == rat; score == 299; expect == 4.8e-82; MEOW:ref|NP_071963.1| (81%) |species == rat; score == 299; expect == 6.3e-82; MEOW:ref|NP_077064.1| (80%) |species == Fruitfly; gene == Arf79F; score == 297; expect == 1.4e-81; MEOW:FBgn0010348 (80%) |species == Human; gene == ARF3; score == 294; expect == 1.5e-80; MEOW:HUgn0000377 (78%) |species == Mouse; gene == Arf3; score == 294; expect == 1.0e-80; MEOW:MGgn0000493 (78%) |species == rat; score == 294; expect == 1.6e-80; MEOW:ref|NP_543180.1| (78%) |species == rice; score == 290; expect == 2.6e-79; MEOW:gnl|TIGR|8355.m01126 (73%) |species == Yeast; gene == ARF2; score == 273; expect == 2.8e-74; MEOW:SGgn0002296 (68%) |species == Yeast; gene == ARF1; score == 273; expect == 1.1e-74; MEOW:SGgn0002351 (70%) } # EOR GENR { RETE|ID 1 HUgn0000382 CHR 1 7 DID 1 LocusLink:382 MAP 1 7q22.1 NAM 1 ADP-ribosylation factor 6 ORG 1 Homo sapiens SYM 1 ARF6 ID|HUgn0000382 DID|LocusLink:382 ORG|Homo sapiens RSQ|REFSEQ:NM_001663 RPA|REFPROT:NP_001654 DBA|XM:NM_001663 |NA:AF047432 |NA:BC002952 |NA:BC008918 |NA:BC030291 |NA:M57763 |NA:none PAC|XP:NP_001654 SYM|ARF6 NAM|ADP-ribosylation factor 6 FNC|ADP-ribosylation factor 6 |small GTPase mediated signal transduction ; GO:0007264 |nonselective vesicle transport ; GO:0006899 |intracellular protein transport ; GO:0006886 REAB|ADP-ribosylation factor 6 (ARF6) is a member of the human ARF gene family. These |genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase |activity of cholera toxin and play a role in vesicular trafficking and as activators |of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins |and constitute 1 family of the RAS superfamily. The ARF proteins are categorized |as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). |The ARF6 protein is uniquely localized to the plasma membrane. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89474 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=382[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136907 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001663 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001663 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89474 DBL|UNIGENE:Hs.89474 |OMIM:600464 |SNP:382 MAP|7q22.1 ENZ|ARF small monomeric GTPase activity ; GO:0003926 |GTP binding ; GO:0005525 |enzyme activator activity ; GO:0008047 |protein transporter activity ; GO:0008565 CEL|Golgi apparatus ; GO:0005794 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Arf6; score == 360; expect == 1e-100; MEOW:MGgn0000496 (100%) |species == rat; score == 360; expect == 2e-100; MEOW:ref|NP_077066.1| (100%) |species == Mosquito; score == 349; expect == 2.9e-97; MEOW:AGgn0021667 (97%) |species == Fruitfly; gene == Arf51F; score == 345; expect == 3.3e-96; MEOW:FBgn0013750 (97%) |species == Worm; gene == arf-6; score == 325; expect == 5.5e-90; MEOW:CEgn0020396 (88%) |species == Weed; gene == At3g62290; score == 270; expect == 3.9e-73; MEOW:ATgn0014715 (72%) |species == Weed; gene == At2g47170; score == 269; expect == 5.0e-73; MEOW:ATgn0027995 (71%) |species == rice; score == 269; expect == 1.0e-72; MEOW:gnl|TIGR|8355.m01123 (71%) |species == Weed; gene == At1g10630; score == 267; expect == 2.5e-72; MEOW:ATgn0004275 (71%) |species == rice; score == 267; expect == 2.7e-72; MEOW:gnl|TIGR|8360.m05383 (71%) |species == Weed; gene == ARF1; score == 266; expect == 4.3e-72; MEOW:ATgn0002195 (71%) |species == Weed; gene == At1g23490; score == 266; expect == 4.3e-72; MEOW:ATgn0006558 (71%) |species == Weed; gene == ARF1; score == 266; expect == 4.3e-72; MEOW:ATgn0021222 (71%) |species == rice; score == 266; expect == 6.2e-72; MEOW:gnl|TIGR|8350.m01510 (71%) |species == rice; score == 265; expect == 1.3e-71; MEOW:gnl|TIGR|8353.m03647 (71%) |species == Human; gene == ARF3; score == 262; expect == 8.0e-71; MEOW:HUgn0000377 (69%) |species == Human; gene == ARF1; score == 259; expect == 5.2e-70; MEOW:HUgn0000375 (70%) |species == rice; score == 259; expect == 1.4e-69; MEOW:gnl|TIGR|8350.m05602 (68%) |species == rice; score == 258; expect == 1.1e-69; MEOW:gnl|TIGR|8355.m01126 (64%) |species == Yeast; gene == ARF2; score == 253; expect == 3.0e-68; MEOW:SGgn0002296 (66%) |species == Yeast; gene == ARF1; score == 250; expect == 2.6e-67; MEOW:SGgn0002351 (66%) |species == Human; gene == ARF5; score == 247; expect == 2.6e-66; MEOW:HUgn0000381 (67%) |species == Human; gene == ARF4; score == 242; expect == 6.5e-65; MEOW:HUgn0000378 (65%) |species == Weed; gene == At5g17060; score == 229; expect == 5.8e-61; MEOW:ATgn0023401 (61%) |species == Weed; gene == At3g03120; score == 227; expect == 2.9e-60; MEOW:ATgn0013780 (59%) |species == rice; score == 224; expect == 2.2e-59; MEOW:gnl|TIGR|8351.m04472 (59%) |species == Yeast; gene == ARF3; score == 221; expect == 1.7e-58; MEOW:SGgn0005620 (60%) |species == rice; score == 221; expect == 1.4e-58; MEOW:gnl|TIGR|8362.m03532 (60%) } # EOR GENR { RETE|ID 1 HUgn0000383 CHR 1 6 DID 1 LocusLink:383 MAP 1 6q23 NAM 1 arginase, liver ORG 1 Homo sapiens SYM 1 ARG1 ID|HUgn0000383 DID|LocusLink:383 ORG|Homo sapiens RSQ|REFSEQ:NM_000045 RPA|REFPROT:NP_000036 DBA|XM:NM_000045 |NA:AL121575 |NA:X12662 |NA:AK128314 |NA:AY074488 |NA:BC005321 |NA:BC020653 |NA:M14502 |NA:none PAC|XP:NP_000036 SYM|ARG1 NAM|arginase, liver FNC|arginase, type I |urea cycle ; GO:0000050 |arginine catabolism ; GO:0006527 REAB|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two |isoforms of mammalian arginase exist (types I and II) which differ in their tissue |distribution, subcellular localization, immunologic crossreactivity and physiologic |function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed |predominantly in the liver as a component of the urea cycle. Inherited deficiency |of this enzyme results in argininemia, an autosomal recessive disorder characterized |by hyperammonemia. CHR|6 PRD|A-I URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440934 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=383[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119006 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000045 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000045 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440934 |http://www.geneclinics.org/query?mim=207800 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.440934 |OMIM:207800 |SNP:383 |UWCM:119006.html ENZ|EC:3.5.3.1 |arginase activity ; GO:0004053 MAP|6q23 PHP|Argininemia CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Arg1; score == 573; expect == 2e-164; MEOW:MGgn0000497 (86%) |species == rat; score == 572; expect == 1e-163; MEOW:ref|NP_058830.1| (86%) |species == Human; gene == ARG2; score == 397; expect == 3e-111; MEOW:HUgn0000384 (60%) |species == Mosquito; gene == LOC12966; score == 268; expect == 2.2e-72; MEOW:AGgn0012966 (45%) |species == Yeast; gene == CAR1; score == 218; expect == 2.8e-57; MEOW:SGgn0006032 (42%) } # EOR GENR { RETE|ID 1 HUgn0000384 CHR 1 14 DID 1 LocusLink:384 MAP 1 14q24.1-q24.3 NAM 1 arginase, type II ORG 1 Homo sapiens SYM 1 ARG2 ID|HUgn0000384 DID|LocusLink:384 ORG|Homo sapiens RSQ|REFSEQ:NM_001172 RPA|REFPROT:NP_001163 DBA|XM:NM_001172 |NA:AY074489 |NA:BC001350 |NA:BC008464 |NA:BC029050 |NA:D86724 |NA:U75667 |NA:U82256 |NA:none PAC|XP:NP_001163 SYM|ARG2 NAM|arginase, type II FNC|arginase, type II precursor |nitric oxide biosynthesis ; GO:0006809 |urea cycle ; GO:0000050 |arginine catabolism ; GO:0006527 REAB|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two |isoforms of mammalian arginase exists (types I and II) which differ in their tissue |distribution, subcellular localization, immunologic crossreactivity and physiologic |function. The type II isoform encoded by this gene, is located in the mitochondria |and expressed in extra-hepatic tissues, especially kidney. The physiologic role |of this isoform is poorly understood; it is thought to play a role in nitric oxide |and polyamine metabolism. Transcript variants of the type II gene resulting from |the use of alternative polyadenylation sites have been described. CHR|14 PRD|A-II |kidney arginase |nonhepatic arginase |L-arginine ureahydrolase |L-arginine amidinohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172851 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=384[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3761274 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001172 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001172 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172851 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.172851 |OMIM:107830 |SNP:384 ENZ|EC:3.5.3.1 |arginase activity ; GO:0004053 |hydrolase activity ; GO:0016787 |manganese ion binding ; GO:0030145 MAP|14q24.1-q24.3 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Arg2; score == 610; expect == 2e-175; MEOW:MGgn0000498 (84%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|NP_062041.1| (83%) |species == Human; gene == ARG1; score == 397; expect == 3e-111; MEOW:HUgn0000383 (60%) |species == Mosquito; gene == LOC12966; score == 268; expect == 1.9e-72; MEOW:AGgn0012966 (41%) |species == Yeast; gene == CAR1; score == 194; expect == 1.3e-50; MEOW:SGgn0006032 (38%) } # EOR GENR { RETE|ID 1 HUgn0000387 CHR 1 3 DID 1 LocusLink:387 MAP 1 3p21.3 NAM 1 ras homolog gene family, member A ORG 1 Homo sapiens SYM 1 ARHA ID|HUgn0000387 DID|LocusLink:387 ORG|Homo sapiens RSQ|REFSEQ:NM_001664 RPA|REFPROT:NP_001655 DBA|XM:NM_001664 |NA:M83094 |NA:AK130066 |NA:AK130808 |NA:BC000946 |NA:BC001360 |NA:BC005976 |NA:BX647063 |NA:L09159 |NA:L25080 |NA:X05026 |NA:none PAC|XP:NP_001655 SYM|ARHA NAM|ras homolog gene family, member A SYN|RHOA |ARH12 |RHO12 |RHOH12 FNC|ras homolog gene family, member A |Rho protein signal transduction ; GO:0007266 |cell growth and/or maintenance ; GO:0008151 |actin cytoskeleton organization and biogenesis ; GO:0030036 CHR|3 PRD|oncogene RHO H12 |Aplysia ras-related homolog 12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77273 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=387[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119698 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001664 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001664 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77273 DBL|UNIGENE:Hs.77273 |OMIM:165390 |SNP:387 MAP|3p21.3 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 CEL|membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Arha; score == 395; expect == 5e-111; MEOW:MGgn0000499 (99%) |species == rat; score == 395; expect == 7e-111; MEOW:ref|NP_476473.1| (99%) |species == Human; gene == ARHC; score == 370; expect == 3e-103; MEOW:HUgn0000389 (91%) |species == Mouse; gene == Arhc; score == 369; expect == 5e-103; MEOW:MGgn0000504 (91%) |species == rat; score == 368; expect == 1e-102; MEOW:ref|XP_215659.1| (91%) |species == Mosquito; gene == LOC15684; score == 354; expect == 1.4e-98; MEOW:AGgn0015684 (89%) |species == Mosquito; gene == LOC24640; score == 354; expect == 1.4e-98; MEOW:AGgn0024640 (89%) |species == Worm; gene == rho-1; score == 349; expect == 4.2e-97; MEOW:CEgn0002440 (87%) |species == Fruitfly; gene == Rho1; score == 345; expect == 4.0e-96; MEOW:FBgn0014020 (86%) |species == Human; gene == ARHB; score == 337; expect == 1.8e-93; MEOW:HUgn0000388 (85%) |species == Mouse; gene == Arhb; score == 337; expect == 1.2e-93; MEOW:MGgn0000503 (85%) |species == rat; score == 337; expect == 1.8e-93; MEOW:ref|NP_071987.1| (85%) |species == Mouse; gene == 4930544G11Rik; score == 335; expect == 1.2e-92; MEOW:MGgn0024327 (84%) |species == rat; score == 327; expect == 1.9e-90; MEOW:ref|NP_872611.1| (82%) |species == Yeast; gene == RHO1; score == 276; expect == 1.9e-75; MEOW:SGgn0006369 (68%) |species == Weed; gene == At4g35020; score == 191; expect == 1.6e-49; MEOW:ATgn0019869 (50%) |species == Weed; gene == At5g45970; score == 189; expect == 8.0e-49; MEOW:ATgn0025201 (50%) |species == Weed; gene == At3g51300; score == 187; expect == 3.0e-48; MEOW:ATgn0016712 (50%) |species == Weed; gene == At2g17800; score == 186; expect == 6.7e-48; MEOW:ATgn0028405 (50%) |species == Weed; gene == At1g20090; score == 185; expect == 1.5e-47; MEOW:ATgn0002656 (49%) |species == Weed; gene == At3g48040; score == 184; expect == 3.3e-47; MEOW:ATgn0014385 (46%) |species == Weed; gene == At4g35950; score == 184; expect == 2.6e-47; MEOW:ATgn0017181 (50%) |species == Weed; gene == At4g28950; score == 184; expect == 3.3e-47; MEOW:ATgn0020080 (45%) |species == Weed; gene == At1g75840; score == 183; expect == 5.7e-47; MEOW:ATgn0001933 (49%) |species == Weed; gene == At2g44690; score == 182; expect == 9.7e-47; MEOW:ATgn0009384 (48%) |species == rice; score == 179; expect == 1.7e-45; MEOW:gnl|TIGR|8351.m04847 (51%) |species == rice; score == 179; expect == 2.3e-45; MEOW:gnl|TIGR|8353.m03879 (48%) |species == rice; score == 178; expect == 3.0e-45; MEOW:gnl|TIGR|8351.m05658 (45%) |species == rice; score == 176; expect == 1.1e-44; MEOW:gnl|TIGR|8351.m00185 (47%) |species == rice; score == 170; expect == 1.1e-42; MEOW:gnl|TIGR|8351.m01941 (49%) |species == rice; score == 167; expect == 5.2e-42; MEOW:gnl|TIGR|8354.m01191 (47%) |species == rice; score == 166; expect == 1.2e-41; MEOW:gnl|TIGR|8350.m01196 (41%) } # EOR GENR { RETE|ID 1 HUgn0000388 CHR 1 2 DID 1 LocusLink:388 MAP 1 2pter-p12 NAM 1 ras homolog gene family, member B ORG 1 Homo sapiens SYM 1 ARHB ID|HUgn0000388 DID|LocusLink:388 ORG|Homo sapiens RSQ|REFSEQ:NM_004040 RPA|REFPROT:NP_004031 DBA|XM:NM_004040 |NA:M12174 |NA:X06820 |NA:none PAC|XP:NP_004031 SYM|ARHB NAM|ras homolog gene family, member B SYN|ARH6 |RHOB |RHOH6 FNC|ras homolog gene family, member B |Rho protein signal transduction ; GO:0007266 |cell growth and/or maintenance ; GO:0008151 CHR|2 PRD|oncogene RHO H6 |Aplysia RAS-related homolog 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406064 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=388[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119699 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004040 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004040 DBL|UNIGENE:Hs.406064 |OMIM:165370 |SNP:388 MAP|2pter-p12 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 HG|species == Mouse; gene == Arhb; score == 402; expect == 5e-113; MEOW:MGgn0000503 (100%) |species == rat; score == 402; expect == 8e-113; MEOW:ref|NP_071987.1| (100%) |species == Human; gene == ARHA; score == 337; expect == 1.8e-93; MEOW:HUgn0000387 (85%) |species == Mouse; gene == Arha; score == 337; expect == 1.2e-93; MEOW:MGgn0000499 (85%) |species == rat; score == 337; expect == 1.8e-93; MEOW:ref|NP_476473.1| (85%) |species == Human; gene == ARHC; score == 336; expect == 5.2e-93; MEOW:HUgn0000389 (85%) |species == Mouse; gene == Arhc; score == 335; expect == 1.2e-92; MEOW:MGgn0000504 (85%) |species == Mosquito; gene == LOC15684; score == 334; expect == 1.5e-92; MEOW:AGgn0015684 (84%) |species == Mosquito; gene == LOC24640; score == 334; expect == 1.5e-92; MEOW:AGgn0024640 (84%) |species == rat; score == 334; expect == 1.5e-92; MEOW:ref|XP_215659.1| (85%) |species == Fruitfly; gene == Rho1; score == 325; expect == 1.2e-89; MEOW:FBgn0014020 (82%) |species == Worm; gene == rho-1; score == 322; expect == 7.3e-89; MEOW:CEgn0002440 (80%) |species == Yeast; gene == RHO1; score == 260; expect == 1.5e-70; MEOW:SGgn0006369 (70%) |species == Weed; gene == At4g35020; score == 185; expect == 1.2e-47; MEOW:ATgn0019869 (50%) |species == Weed; gene == At3g51300; score == 182; expect == 1.0e-46; MEOW:ATgn0016712 (47%) |species == Weed; gene == At5g45970; score == 182; expect == 1.0e-46; MEOW:ATgn0025201 (51%) |species == Weed; gene == At4g35950; score == 180; expect == 5.0e-46; MEOW:ATgn0017181 (47%) |species == Weed; gene == At2g17800; score == 180; expect == 5.0e-46; MEOW:ATgn0028405 (47%) |species == Weed; gene == At1g75840; score == 179; expect == 6.5e-46; MEOW:ATgn0001933 (47%) |species == Weed; gene == At1g20090; score == 179; expect == 6.5e-46; MEOW:ATgn0002656 (47%) |species == Weed; gene == At3g48040; score == 179; expect == 8.5e-46; MEOW:ATgn0014385 (44%) |species == Weed; gene == At5g62880; score == 179; expect == 1.1e-45; MEOW:ATgn0023129 (44%) |species == Weed; gene == At4g28950; score == 177; expect == 4.2e-45; MEOW:ATgn0020080 (48%) |species == rice; score == 177; expect == 8.9e-45; MEOW:gnl|TIGR|8351.m04847 (50%) |species == rice; score == 174; expect == 4.4e-44; MEOW:gnl|TIGR|8353.m03879 (48%) |species == rice; score == 172; expect == 2.9e-43; MEOW:gnl|TIGR|8351.m05658 (44%) |species == rice; score == 170; expect == 1.1e-42; MEOW:gnl|TIGR|8351.m00185 (45%) |species == rice; score == 162; expect == 2.3e-40; MEOW:gnl|TIGR|8351.m01941 (48%) |species == rice; score == 162; expect == 2.3e-40; MEOW:gnl|TIGR|8354.m01191 (48%) |species == rice; score == 161; expect == 3.9e-40; MEOW:gnl|TIGR|8350.m01196 (42%) } # EOR GENR { RETE|ID 1 HUgn0000389 CHR 1 1 DID 1 LocusLink:389 MAP 1 1p13.1 NAM 1 ras homolog gene family, member C ORG 1 Homo sapiens SYM 1 ARHC ID|HUgn0000389 DID|LocusLink:389 ORG|Homo sapiens RSQ|REFSEQ:NM_175744 RPA|REFPROT:NP_786886 DBA|XM:NM_175744 |NA:AF085893 |NA:AF498972 |NA:AK094474 |NA:BC007245 |NA:BC009177 |NA:BC052808 |NA:BX648784 |NA:L25081 |NA:X06821 |NA:none PAC|XP:NP_786886 SYM|ARHC NAM|ras homolog gene family, member C SYN|ARH9 |RHOC |RHOH9 FNC|ras homolog gene family, member C CHR|1 PRD|RhoC |Aplysia ras-related homolog 9 |Aplysia RAS-related homolog 9 (oncogene RHO H9) |RAS homolog gene family, member C (oncogene RHO H9) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=179735 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=389[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119700 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_175744 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_175744 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=179735 DBL|UNIGENE:Hs.179735 |OMIM:165380 |SNP:389 MAP|1p13.1 PHP|Ras-related GTP binding protein of the rho subfamily, member C; regulates reorganization of the actin cytoskeleton ENZ|Rho small monomeric GTPase activity ; GO:0003931 HG|species == Mouse; gene == Arhc; score == 394; expect == 1e-110; MEOW:MGgn0000504 (99%) |species == rat; score == 393; expect == 3e-110; MEOW:ref|XP_215659.1| (99%) |species == Human; gene == ARHA; score == 370; expect == 3e-103; MEOW:HUgn0000387 (91%) |species == Mouse; gene == Arha; score == 370; expect == 2e-103; MEOW:MGgn0000499 (92%) |species == rat; score == 370; expect == 2e-103; MEOW:ref|NP_476473.1| (92%) |species == Mosquito; gene == LOC15684; score == 346; expect == 2.9e-96; MEOW:AGgn0015684 (87%) |species == Mosquito; gene == LOC24640; score == 346; expect == 2.9e-96; MEOW:AGgn0024640 (87%) |species == Fruitfly; gene == Rho1; score == 340; expect == 2.2e-94; MEOW:FBgn0014020 (86%) |species == Human; gene == ARHB; score == 336; expect == 5.2e-93; MEOW:HUgn0000388 (85%) |species == Mouse; gene == Arhb; score == 336; expect == 3.5e-93; MEOW:MGgn0000503 (85%) |species == rat; score == 336; expect == 5.3e-93; MEOW:ref|NP_071987.1| (85%) |species == Worm; gene == rho-1; score == 335; expect == 4.8e-93; MEOW:CEgn0002440 (84%) |species == Mouse; gene == 4930544G11Rik; score == 319; expect == 4.4e-88; MEOW:MGgn0024327 (80%) |species == Yeast; gene == RHO1; score == 272; expect == 2.8e-74; MEOW:SGgn0006369 (67%) |species == Weed; gene == At4g35020; score == 191; expect == 1.6e-49; MEOW:ATgn0019869 (50%) |species == Weed; gene == At4g28950; score == 187; expect == 3.0e-48; MEOW:ATgn0020080 (47%) |species == Weed; gene == At3g51300; score == 186; expect == 6.7e-48; MEOW:ATgn0016712 (48%) |species == Weed; gene == At4g35950; score == 185; expect == 1.5e-47; MEOW:ATgn0017181 (48%) |species == Weed; gene == At5g45970; score == 185; expect == 1.5e-47; MEOW:ATgn0025201 (49%) |species == Weed; gene == At2g17800; score == 185; expect == 1.5e-47; MEOW:ATgn0028405 (48%) |species == Weed; gene == At1g20090; score == 183; expect == 5.7e-47; MEOW:ATgn0002656 (48%) |species == Weed; gene == At3g48040; score == 182; expect == 1.3e-46; MEOW:ATgn0014385 (46%) |species == Weed; gene == At1g75840; score == 181; expect == 2.2e-46; MEOW:ATgn0001933 (48%) |species == rice; score == 181; expect == 6.0e-46; MEOW:gnl|TIGR|8351.m04847 (48%) |species == Weed; gene == At5g62880; score == 179; expect == 8.2e-46; MEOW:ATgn0023129 (46%) |species == rice; score == 177; expect == 5.1e-45; MEOW:gnl|TIGR|8353.m03879 (47%) |species == rice; score == 176; expect == 1.1e-44; MEOW:gnl|TIGR|8351.m05658 (44%) |species == rice; score == 172; expect == 1.6e-43; MEOW:gnl|TIGR|8351.m00185 (46%) |species == rice; score == 169; expect == 2.4e-42; MEOW:gnl|TIGR|8351.m01941 (48%) |species == rice; score == 167; expect == 8.9e-42; MEOW:gnl|TIGR|8354.m01191 (47%) |species == rice; score == 165; expect == 2.6e-41; MEOW:gnl|TIGR|8350.m01196 (41%) } # EOR GENR { RETE|ID 1 HUgn0000390 CHR 1 2 DID 1 LocusLink:390 MAP 1 2q23.3 NAM 1 ras homolog gene family, member E ORG 1 Homo sapiens SYM 1 ARHE ID|HUgn0000390 DID|LocusLink:390 ORG|Homo sapiens RSQ|REFSEQ:NM_005168 RPA|REFPROT:NP_005159 DBA|XM:NM_005168 |NA:BC012513 |NA:S82240 |NA:X95282 |NA:none PAC|XP:NP_005159 SYM|ARHE NAM|ras homolog gene family, member E SYN|RHOE |RND3 FNC|ras homolog gene family, member E |small GTPase mediated signal transduction ; GO:0007264 |cell adhesion ; GO:0007155 |actin cytoskeleton organization and biogenesis ; GO:0030036 CHR|2 PRD|Rho8 |RhoE URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6838 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=390[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5981240 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005168 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005168 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=6838 DBL|UNIGENE:Hs.6838 |OMIM:602924 |SNP:390 MAP|2q23.3 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 HG|species == Mouse; gene == Arhe; score == 465; expect == 1e-131; MEOW:MGgn0020811 (100%) |species == rat; score == 465; expect == 1e-131; MEOW:ref|XP_215730.1| (100%) |species == Human; gene == RHO6; score == 301; expect == 2.5e-82; MEOW:HUgn0027289 (58%) |species == Human; gene == ARHN; score == 299; expect == 8.0e-82; MEOW:HUgn0008153 (64%) |species == Worm; gene == rho-1; score == 198; expect == 1.3e-51; MEOW:CEgn0002440 (51%) |species == Fruitfly; gene == Rho1; score == 198; expect == 1.5e-51; MEOW:FBgn0014020 (51%) |species == Mosquito; gene == LOC15684; score == 197; expect == 2.4e-51; MEOW:AGgn0015684 (51%) |species == Mosquito; gene == LOC24640; score == 197; expect == 2.4e-51; MEOW:AGgn0024640 (51%) |species == Yeast; gene == RHO1; score == 192; expect == 5.2e-50; MEOW:SGgn0006369 (52%) |species == Fruitfly; gene == Rac1; score == 168; expect == 1.7e-42; MEOW:FBgn0010333 (45%) |species == Mosquito; gene == LOC14228; score == 167; expect == 3.5e-42; MEOW:AGgn0014228 (45%) |species == Fruitfly; gene == Mtl; score == 166; expect == 4.8e-42; MEOW:FBgn0039532 (44%) |species == Fruitfly; gene == Rac2; score == 165; expect == 1.1e-41; MEOW:FBgn0014011 (45%) |species == Worm; gene == mig-2; score == 160; expect == 5.3e-40; MEOW:CEgn0002000 (43%) |species == Yeast; gene == RHO3; score == 155; expect == 2.2e-38; MEOW:SGgn0001380 (36%) |species == Weed; gene == At4g28950; score == 140; expect == 6.2e-34; MEOW:ATgn0020080 (39%) |species == rice; score == 136; expect == 2.5e-32; MEOW:gnl|TIGR|8351.m04847 (39%) |species == Weed; gene == At3g51300; score == 135; expect == 2.6e-32; MEOW:ATgn0016712 (39%) |species == Weed; gene == At4g35020; score == 134; expect == 3.4e-32; MEOW:ATgn0019869 (39%) |species == rice; score == 134; expect == 1.3e-31; MEOW:gnl|TIGR|8353.m03879 (39%) |species == Weed; gene == At1g20090; score == 131; expect == 3.8e-31; MEOW:ATgn0002656 (36%) |species == Weed; gene == At1g75840; score == 130; expect == 6.5e-31; MEOW:ATgn0001933 (35%) |species == Weed; gene == At4g35950; score == 130; expect == 8.4e-31; MEOW:ATgn0017181 (37%) |species == Weed; gene == At2g17800; score == 130; expect == 8.4e-31; MEOW:ATgn0028405 (37%) } # EOR GENR { RETE|ID 1 HUgn0000391 CHR 1 11 DID 1 LocusLink:391 MAP 1 11p15.5-p15.4 NAM 1 ras homolog gene family, member G (rho G) ORG 1 Homo sapiens SYM 1 ARHG ID|HUgn0000391 DID|LocusLink:391 ORG|Homo sapiens RSQ|REFSEQ:NM_001665 RPA|REFPROT:NP_001656 DBA|XM:NM_001665 |NA:L11317 |NA:X61587 |NA:none PAC|XP:NP_001656 SYM|ARHG NAM|ras homolog gene family, member G (rho G) FNC|ras homolog gene family, member G (rho G) |Rho protein signal transduction ; GO:0007266 |positive regulation of cell proliferation ; GO:0008284 |regulation of cell cycle ; GO:0000074 CHR|11 PRD|RhoG URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75082 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=391[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136404 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001665 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001665 DBL|UNIGENE:Hs.75082 |OMIM:179505 |SNP:391 MAP|11p15.5-p15.4 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 HG|species == Mouse; gene == Arhg; score == 393; expect == 2e-110; MEOW:MGgn0015014 (99%) |species == rat; score == 393; expect == 3e-110; MEOW:ref|XP_218977.1| (99%) |species == Human; gene == RAC1; score == 282; expect == 8.8e-77; MEOW:HUgn0005879 (71%) |species == Human; gene == RAC3; score == 277; expect == 2.8e-75; MEOW:HUgn0005881 (70%) |species == Human; gene == RAC2; score == 276; expect == 6.3e-75; MEOW:HUgn0005880 (71%) |species == Human; gene == LOC256000; score == 271; expect == 1.2e-73; MEOW:HUgn0256000 (70%) |species == Mosquito; gene == LOC14228; score == 268; expect == 7.6e-73; MEOW:AGgn0014228 (67%) |species == Fruitfly; gene == Rac1; score == 266; expect == 3.9e-72; MEOW:FBgn0010333 (67%) |species == Fruitfly; gene == Rac2; score == 264; expect == 1.5e-71; MEOW:FBgn0014011 (67%) |species == Fruitfly; gene == Mtl; score == 259; expect == 4.8e-70; MEOW:FBgn0039532 (65%) |species == Mosquito; gene == LOC22835; score == 256; expect == 2.3e-69; MEOW:AGgn0022835 (66%) |species == Human; gene == LOC286472; score == 256; expect == 5.2e-69; MEOW:HUgn0286472 (66%) |species == Worm; gene == mig-2; score == 255; expect == 6.2e-69; MEOW:CEgn0002000 (59%) |species == Human; gene == CDC42; score == 253; expect == 5.7e-68; MEOW:HUgn0000998 (60%) |species == Worm; gene == rac-2; score == 251; expect == 1.5e-67; MEOW:CEgn0002414 (61%) |species == Mosquito; gene == LOC23777; score == 244; expect == 1.5e-65; MEOW:AGgn0023777 (60%) |species == Fruitfly; gene == Cdc42; score == 244; expect == 1.2e-65; MEOW:FBgn0010341 (60%) |species == Yeast; gene == CDC42; score == 241; expect == 1.3e-64; MEOW:SGgn0004219 (58%) |species == Mosquito; score == 240; expect == 2.9e-64; MEOW:AGgn0026005 (65%) |species == Worm; gene == cdc-42; score == 240; expect == 2.1e-64; MEOW:CEgn0000144 (58%) |species == Worm; gene == rho-1; score == 225; expect == 6.9e-60; MEOW:CEgn0002440 (56%) |species == Mosquito; gene == LOC15684; score == 224; expect == 9.6e-60; MEOW:AGgn0015684 (56%) |species == Mosquito; gene == LOC24640; score == 224; expect == 9.6e-60; MEOW:AGgn0024640 (56%) |species == Fruitfly; gene == Rho1; score == 224; expect == 1.0e-59; MEOW:FBgn0014020 (57%) |species == Weed; gene == At3g51300; score == 209; expect == 9.5e-55; MEOW:ATgn0016712 (57%) |species == Weed; gene == At5g45970; score == 209; expect == 7.3e-55; MEOW:ATgn0025201 (57%) |species == Yeast; gene == RHO1; score == 209; expect == 2.2e-55; MEOW:SGgn0006369 (54%) |species == Weed; gene == At2g44690; score == 208; expect == 1.6e-54; MEOW:ATgn0009384 (58%) |species == Weed; gene == At2g17800; score == 206; expect == 6.2e-54; MEOW:ATgn0028405 (57%) |species == Weed; gene == At4g35950; score == 205; expect == 1.4e-53; MEOW:ATgn0017181 (56%) |species == Weed; gene == At1g75840; score == 204; expect == 3.1e-53; MEOW:ATgn0001933 (54%) |species == Weed; gene == At1g20090; score == 204; expect == 3.1e-53; MEOW:ATgn0002656 (55%) |species == Weed; gene == At4g35020; score == 204; expect == 3.1e-53; MEOW:ATgn0019869 (56%) |species == rice; score == 204; expect == 2.8e-53; MEOW:gnl|TIGR|8353.m03879 (56%) |species == Weed; gene == At4g28950; score == 203; expect == 5.2e-53; MEOW:ATgn0020080 (59%) |species == rice; score == 203; expect == 4.8e-53; MEOW:gnl|TIGR|8351.m04847 (59%) |species == Weed; gene == At3g48040; score == 202; expect == 1.3e-52; MEOW:ATgn0014385 (57%) |species == Weed; gene == At5g62880; score == 202; expect == 1.1e-52; MEOW:ATgn0023129 (57%) |species == rice; score == 196; expect == 1.8e-50; MEOW:gnl|TIGR|8351.m00185 (53%) |species == rice; score == 194; expect == 5.1e-50; MEOW:gnl|TIGR|8351.m05658 (51%) |species == rice; score == 184; expect == 2.9e-47; MEOW:gnl|TIGR|8350.m01196 (48%) |species == rice; score == 184; expect == 2.7e-47; MEOW:gnl|TIGR|8351.m01941 (54%) |species == rice; score == 184; expect == 1.9e-47; MEOW:gnl|TIGR|8354.m01191 (55%) } # EOR GENR { RETE|ID 1 HUgn0000392 CHR 1 11 DID 1 LocusLink:392 MAP 1 11p12-q12 NAM 1 Rho GTPase activating protein 1 ORG 1 Homo sapiens SYM 1 ARHGAP1 ID|HUgn0000392 DID|LocusLink:392 ORG|Homo sapiens RSQ|REFSEQ:NM_004308 RPA|REFPROT:NP_004299 DBA|XM:NM_004308 |NA:BC018118 |NA:U02570 |NA:U62794 |NA:Z23024 |NA:none PAC|XP:NP_004299 SYM|ARHGAP1 NAM|Rho GTPase activating protein 1 SYN|RHOGAP |RHOGAP1 |CDC42GAP FNC|Rho GTPase activating protein 1 |Rho protein signal transduction ; GO:0007266 |cytoskeleton organization and biogenesis ; GO:0007010 CHR|11 PRD|RhoGAP |p50rhoGAP |CDC42 GTPase-activating protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=138860 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=392[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874909 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004308 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004308 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=138860 DBL|UNIGENE:Hs.138860 |OMIM:602732 |SNP:392 MAP|11p12-q12 PHP|GTPase-activating protein for rho, rac and Cdc42Hs; has an SH3 binding domain ENZ|Rho GTPase activator activity ; GO:0005100 |SH3/SH2 adaptor protein activity ; GO:0005070 HG|species == Mouse; gene == B230365D05Rik; score == 792; expect == 0.0; MEOW:MGgn0042268 (96%) |species == rat; score == 655; expect == 0.0; MEOW:ref|XP_230284.2| (93%) |species == Worm; gene == W02B12.8; score == 285; expect == 3.6e-77; MEOW:CEgn0017367 (39%) |species == Mosquito; gene == LOC2091; score == 261; expect == 2.3e-70; MEOW:AGgn0002091 (36%) |species == Fruitfly; gene == RhoGAP68F; score == 255; expect == 1.7e-68; MEOW:FBgn0036257 (38%) } # EOR GENR { RETE|ID 1 HUgn0000393 CHR 1 X DID 1 LocusLink:393 MAP 1 Xq28 NAM 1 Rho GTPase activating protein 4 ORG 1 Homo sapiens SYM 1 ARHGAP4 ID|HUgn0000393 DID|LocusLink:393 ORG|Homo sapiens RSQ|REFSEQ:NM_001666 RPA|REFPROT:NP_001657 DBA|XM:NM_001666 |NA:AY183123 |NA:BC023626 |NA:BC052303 |NA:D50921 |NA:X78817 |NA:none PAC|XP:NP_001657 SYM|ARHGAP4 NAM|Rho GTPase activating protein 4 SYN|C1 |RGC1 |RhoGAP4 |KIAA0131 FNC|Rho GTPase activating protein 4 CHR|X PRD|p115 |Rho-GAP hematopoietic protein C1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3109 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=393[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6888562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001666 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001666 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3109 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0131 DBL|UNIGENE:Hs.3109 |OMIM:300023 |SNP:393 MAP|Xq28 HG|species == Mouse; gene == Arhgap4; score == 1341; expect == 0.0; MEOW:MGgn0040234 (80%) |species == rat; score == 1325; expect == 0.0; MEOW:ref|NP_653341.1| (80%) |species == Human; gene == SRGAP2; score == 731; expect == 0.0; MEOW:HUgn0009901 (50%) |species == Human; gene == SRGAP1; score == 719; expect == 0.0; MEOW:HUgn0057522 (48%) |species == Human; gene == FNBP2; score == 588; expect == 5e-168; MEOW:HUgn0023380 (45%) |species == Mosquito; score == 503; expect == 2e-142; MEOW:AGgn0003425 (36%) |species == Worm; gene == F12F6.5; score == 375; expect == 5e-104; MEOW:CEgn0008282 (32%) } # EOR GENR { RETE|ID 1 HUgn0000394 CHR 1 14 DID 1 LocusLink:394 MAP 1 14q12 NAM 1 Rho GTPase activating protein 5 ORG 1 Homo sapiens SYM 1 ARHGAP5 ID|HUgn0000394 DID|LocusLink:394 ORG|Homo sapiens RSQ|REFSEQ:NM_001173 RPA|REFPROT:NP_001164 DBA|XM:NM_001173 |NA:U17032 PAC|XP:NP_001164 SYM|ARHGAP5 NAM|Rho GTPase activating protein 5 SYN|P190-B |RHOGAP5 FNC|Rho GTPase activating protein 5 |Rho protein signal transduction ; GO:0007266 |cell adhesion ; GO:0007155 REAB|Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which |may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. CHR|14 PRD|p190-B |RhoGAP5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409546 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=394[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6889383 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001173 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001173 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24959 DBL|UNIGENE:Hs.409546 |OMIM:602680 |SNP:394 MAP|14q12 ENZ|Rho GTPase activator activity ; GO:0005100 |GTPase activity ; GO:0003924 CEL|membrane ; GO:0016020 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Arhgap5; score == 2729; expect == 0.0; MEOW:MGgn0000506 (93%) |species == rat; score == 2677; expect == 0.0; MEOW:ref|XP_216688.2| (92%) |species == Human; gene == GRLF1; score == 1354; expect == 0.0; MEOW:HUgn0002909 (49%) |species == Mosquito; gene == LOC17722; score == 595; expect == 4e-170; MEOW:AGgn0017722 (35%) |species == Fruitfly; gene == RhoGAPp190; score == 567; expect == 1e-161; MEOW:FBgn0026375 (33%) |species == Worm; gene == H08M01.2; score == 257; expect == 2.8e-68; MEOW:CEgn0012677 (31%) } # EOR GENR { RETE|ID 1 HUgn0000395 CHR 1 X DID 1 LocusLink:395 MAP 1 Xp22.3 NAM 1 Rho GTPase activating protein 6 ORG 1 Homo sapiens SYM 1 ARHGAP6 ID|HUgn0000395 DID|LocusLink:395 ORG|Homo sapiens RSQ|REFSEQ:NM_001174 |REFSEQ:NM_006125 |REFSEQ:NM_013422 |REFSEQ:NM_013423 |REFSEQ:NM_013427 RPA|REFPROT:NP_001165 |REFPROT:NP_006116 |REFPROT:NP_038266 |REFPROT:NP_038267 |REFPROT:NP_038286 DBA|XM:NM_001174 |XM:NM_006125 |XM:NM_013422 |XM:NM_013423 |XM:NM_013427 |NA:AF012272 |NA:AF022212 |NA:AF117067 |NA:AF177663 |NA:AF177665 |NA:none PAC|XP:NP_001165 |XP:NP_006116 |XP:NP_038266 |XP:NP_038267 |XP:NP_038286 SYM|ARHGAP6 NAM|Rho GTPase activating protein 6 SYN|RHOGAP6 FNC|Rho GTPase activating protein 6 isoform 1 |Rho GTPase activating protein 6 isoform 2 |Rho GTPase activating protein 6 isoform 3 |Rho GTPase activating protein 6 isoform 4 |Rho GTPase activating protein 6 isoform 5 |Rho protein signal transduction ; GO:0007266 |regulation of transcription, DNA-dependent ; GO:0006355 |actin filament polymerization ; GO:0030041 REAB|ARHGAP6 is similar to the rhoGAP family of proteins which play a role in the regulation |of actin polymerization at the plasma membrane of several cellular processes. Rho |GTPase activating protein 6 is thought to have two independent functions, one as |a GTPase-activating protein (GAP) with specificity for RhoA and another as a cytoskeletal |protein that promotes actin remodeling. Rho GTPase activating protein 6 exists as |five different splice variants through the use of alternatively spliced exons 1a, |1b, 11, and splicing of a cryptic splice donar site in exon 12. CHR|X PRD|rhoGAPX-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250830 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=395[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6919857 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001174 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001174 DBL|UNIGENE:Hs.250830 |OMIM:300118 |SNP:395 MAP|Xp22.3 ENZ|Rho GTPase activator activity ; GO:0005100 |SH3/SH2 adaptor protein activity ; GO:0005070 |DNA binding ; GO:0003677 CEL|actin filament ; GO:0005884 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Arhgap6; score == 748; expect == 0.0; MEOW:MGgn0000507 (93%) |species == rat; score == 600; expect == 4e-172; MEOW:ref|XP_228868.2| (94%) |species == Human; gene == FLJ30058; score == 260; expect == 8.5e-70; MEOW:HUgn0158763 (45%) |species == Worm; gene == C01F4.2a; score == 166; expect == 6.1e-41; MEOW:CEgn0031591 (29%) |species == Fruitfly; gene == RhoGAP102A; score == 149; expect == 1.3e-36; MEOW:FBgn0039898 (47%) } # EOR GENR { RETE|ID 1 HUgn0000396 CHR 1 17 DID 1 LocusLink:396 MAP 1 17q25.3 NAM 1 Rho GDP dissociation inhibitor (GDI) alpha ORG 1 Homo sapiens SYM 1 ARHGDIA ID|HUgn0000396 DID|LocusLink:396 ORG|Homo sapiens RSQ|REFSEQ:NM_004309 RPA|REFPROT:NP_004300 DBA|XM:NM_004309 |NA:X63863 |NA:BC005851 |NA:BC005875 |NA:BC007630 |NA:BC008701 |NA:BC009759 |NA:BC013846 |NA:BC016031 |NA:BC016185 |NA:BC024258 |NA:BC027730 |NA:BC028333 |NA:D13989 |NA:M97579 |NA:X69550 |NA:none PAC|XP:NP_004300 SYM|ARHGDIA NAM|Rho GDP dissociation inhibitor (GDI) alpha SYN|GDIA1 |RHOGDI FNC|Rho GDP dissociation inhibitor (GDI) alpha |negative regulation of cell adhesion ; GO:0007162 |Rho protein signal transduction ; GO:0007266 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159161 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=396[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220146 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004309 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004309 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159161 DBL|UNIGENE:Hs.159161 |OMIM:601925 |SNP:396 MAP|17q25.3 ENZ|Rho GDP-dissociation inhibitor activity ; GO:0005094 |protein binding ; GO:0005515 |GTPase activator activity ; GO:0005096 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Arhgdia; score == 403; expect == 3e-113; MEOW:MGgn0040471 (97%) |species == rat; score == 403; expect == 4e-113; MEOW:ref|XP_340951.1| (97%) |species == Human; gene == LOC376427; score == 357; expect == 3.1e-99; MEOW:HUgn0376427 (83%) |species == Human; gene == ARHGDIB; score == 286; expect == 5.2e-78; MEOW:HUgn0000397 (70%) |species == Mosquito; gene == LOC14057; score == 213; expect == 2.5e-56; MEOW:AGgn0014057 (53%) |species == Fruitfly; gene == RhoGDI; score == 201; expect == 1.7e-52; MEOW:FBgn0036921 (51%) |species == rice; score == 142; expect == 2.6e-34; MEOW:gnl|TIGR|8354.m01994 (38%) |species == Worm; gene == rhi-1; score == 136; expect == 6.2e-33; MEOW:CEgn0002439 (39%) |species == Yeast; gene == RDI1; score == 135; expect == 1.5e-32; MEOW:SGgn0002294 (37%) |species == Weed; gene == At3g07880; score == 134; expect == 2.6e-32; MEOW:ATgn0011854 (37%) } # EOR GENR { RETE|ID 1 HUgn0000397 CHR 1 12 DID 1 LocusLink:397 MAP 1 12p12.3 NAM 1 Rho GDP dissociation inhibitor (GDI) beta ORG 1 Homo sapiens SYM 1 ARHGDIB ID|HUgn0000397 DID|LocusLink:397 ORG|Homo sapiens RSQ|REFSEQ:NM_001175 RPA|REFPROT:NP_001166 DBA|XM:NM_001175 |NA:BC009200 |NA:L07916 |NA:L20688 |NA:X69549 |NA:none PAC|XP:NP_001166 SYM|ARHGDIB NAM|Rho GDP dissociation inhibitor (GDI) beta SYN|D4 |GDIA2 |GDID4 |LYGDI |RAP1GN1 FNC|Rho GDP dissociation inhibitor (GDI) beta |negative regulation of cell adhesion ; GO:0007162 |Rho protein signal transduction ; GO:0007266 |development ; GO:0007275 |immune response ; GO:0006955 |actin cytoskeleton organization and biogenesis ; GO:0030036 CHR|12 PRD|Ly-GDI |Rho GDI 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=292738 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=397[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:377299 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001175 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001175 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=292738 DBL|UNIGENE:Hs.292738 |OMIM:602843 |SNP:397 MAP|12p12.3 ENZ|Rho GDP-dissociation inhibitor activity ; GO:0005094 |GTPase activator activity ; GO:0005096 CEL|cytoplasmic vesicle ; GO:0016023 HG|species == Mouse; gene == Arhgdib; score == 365; expect == 9e-102; MEOW:MGgn0000508 (87%) |species == rat; score == 357; expect == 2.3e-99; MEOW:ref|XP_342778.1| (85%) |species == rat; score == 288; expect == 1.4e-78; MEOW:ref|XP_340951.1| (70%) |species == Human; gene == ARHGDIA; score == 286; expect == 5.2e-78; MEOW:HUgn0000396 (70%) |species == Human; gene == LOC376427; score == 264; expect == 2.7e-71; MEOW:HUgn0376427 (64%) |species == Human; gene == ARHGDIG; score == 230; expect == 4.0e-61; MEOW:HUgn0000398 (59%) |species == Mosquito; gene == LOC14057; score == 194; expect == 2.0e-50; MEOW:AGgn0014057 (51%) |species == Fruitfly; gene == RhoGDI; score == 181; expect == 1.1e-46; MEOW:FBgn0036921 (50%) |species == Worm; gene == rhi-1; score == 145; expect == 1.3e-35; MEOW:CEgn0002439 (40%) |species == Weed; gene == At3g07880; score == 132; expect == 2.2e-31; MEOW:ATgn0011854 (40%) } # EOR GENR { RETE|ID 1 HUgn0000398 CHR 1 16 DID 1 LocusLink:398 MAP 1 16p13.3 NAM 1 Rho GDP dissociation inhibitor (GDI) gamma ORG 1 Homo sapiens SYM 1 ARHGDIG ID|HUgn0000398 DID|LocusLink:398 ORG|Homo sapiens RSQ|REFSEQ:NM_001176 RPA|REFPROT:NP_001167 DBA|XM:NM_001176 |NA:AF080237 |NA:BC047699 |NA:U82532 |NA:none PAC|XP:NP_001167 SYM|ARHGDIG NAM|Rho GDP dissociation inhibitor (GDI) gamma FNC|Rho GDP dissociation inhibitor (GDI) gamma |negative regulation of cell adhesion ; GO:0007162 |Rho protein signal transduction ; GO:0007266 CHR|16 PRD|RhoGDI gamma URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121516 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=398[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6288651 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001176 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001176 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=121516 DBL|UNIGENE:Hs.121516 |OMIM:602844 |SNP:398 MAP|16p13.3 ENZ|Rho GDP-dissociation inhibitor activity ; GO:0005094 |GTPase activator activity ; GO:0005096 CEL|cytoplasmic vesicle ; GO:0016023 HG|species == rat; score == 326; expect == 7.0e-90; MEOW:ref|XP_340776.1| (81%) |species == Mouse; gene == Arhgdig; score == 320; expect == 5.0e-88; MEOW:MGgn0004699 (79%) |species == Human; gene == ARHGDIA; score == 243; expect == 5.1e-65; MEOW:HUgn0000396 (60%) |species == Human; gene == ARHGDIB; score == 230; expect == 4.0e-61; MEOW:HUgn0000397 (59%) |species == Human; gene == LOC376427; score == 222; expect == 1.1e-58; MEOW:HUgn0376427 (57%) |species == Mosquito; gene == LOC14057; score == 164; expect == 1.5e-41; MEOW:AGgn0014057 (44%) |species == Fruitfly; gene == RhoGDI; score == 153; expect == 4.9e-38; MEOW:FBgn0036921 (45%) } # EOR GENR { RETE|ID 1 HUgn0000399 CHR 1 4 DID 1 LocusLink:399 MAP 1 4p13 NAM 1 ras homolog gene family, member H ORG 1 Homo sapiens SYM 1 ARHH ID|HUgn0000399 DID|LocusLink:399 ORG|Homo sapiens RSQ|REFSEQ:NM_004310 RPA|REFPROT:NP_004301 DBA|XM:NM_004310 |NA:BC014261 |NA:Z35227 |NA:none PAC|XP:NP_004301 SYM|ARHH NAM|ras homolog gene family, member H SYN|TTF |RHOH FNC|ras homolog gene family, member H |small GTPase mediated signal transduction ; GO:0007264 REAB|ARHH is a member of the Ras superfamily of small GTPases. Expression of a chimeric |transcript of LAZ3 and ARHH has been reported as a result of the translocation t(3;4) |in non-Hodgkin's lymphoma. ARHH is expressed exclusively in hematopoietic cells |and tissues. This gene, which encodes a small G-like protein, has an undetermined |function. CHR|4 PRD|RhoH |TTF, translocation three four |rho-related GTP-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109918 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=399[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5983342 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004310 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004310 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=109918 DBL|UNIGENE:Hs.109918 |OMIM:602037 |SNP:399 MAP|4p13 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 HG|species == Mouse; gene == Arhh; score == 377; expect == 2e-105; MEOW:MGgn0026056 (96%) |species == rat; score == 376; expect == 3e-105; MEOW:ref|XP_223404.1| (96%) |species == Mosquito; gene == LOC22835; score == 166; expect == 4.1e-42; MEOW:AGgn0022835 (46%) |species == Mosquito; score == 166; expect == 4.1e-42; MEOW:AGgn0026005 (46%) |species == Worm; gene == mig-2; score == 159; expect == 7.9e-40; MEOW:CEgn0002000 (47%) |species == Fruitfly; gene == Mtl; score == 158; expect == 8.8e-40; MEOW:FBgn0039532 (46%) |species == Human; gene == CDC42; score == 153; expect == 6.1e-38; MEOW:HUgn0000998 (44%) |species == Mouse; gene == Cdc42; score == 153; expect == 4.1e-38; MEOW:MGgn0001224 (44%) |species == Mouse; gene == Rac1; score == 153; expect == 4.1e-38; MEOW:MGgn0009687 (42%) |species == Mosquito; gene == LOC14228; score == 152; expect == 6.1e-38; MEOW:AGgn0014228 (42%) |species == Mosquito; gene == LOC23777; score == 152; expect == 7.9e-38; MEOW:AGgn0023777 (43%) |species == Fruitfly; gene == Rac1; score == 152; expect == 8.3e-38; MEOW:FBgn0010333 (42%) |species == Fruitfly; gene == Cdc42; score == 152; expect == 8.3e-38; MEOW:FBgn0010341 (43%) |species == Human; gene == RAC1; score == 152; expect == 1.0e-37; MEOW:HUgn0005879 (42%) |species == Human; gene == RAC3; score == 152; expect == 1.4e-37; MEOW:HUgn0005881 (42%) |species == Mouse; gene == Rac3; score == 152; expect == 9.2e-38; MEOW:MGgn0040651 (42%) |species == Fruitfly; gene == Rac2; score == 151; expect == 1.8e-37; MEOW:FBgn0014011 (41%) |species == Mouse; gene == Rac2; score == 151; expect == 1.6e-37; MEOW:MGgn0009688 (41%) |species == rat; score == 151; expect == 2.4e-37; MEOW:ref|NP_741991.2| (43%) |species == rat; score == 151; expect == 2.4e-37; MEOW:ref|XP_345855.1| (41%) |species == Human; gene == RAC2; score == 149; expect == 6.8e-37; MEOW:HUgn0005880 (41%) |species == Worm; gene == cdc-42; score == 148; expect == 1.4e-36; MEOW:CEgn0000144 (43%) |species == Mosquito; gene == LOC15684; score == 146; expect == 3.3e-36; MEOW:AGgn0015684 (43%) |species == Mosquito; gene == LOC24640; score == 146; expect == 3.3e-36; MEOW:AGgn0024640 (43%) |species == Human; gene == ARHC; score == 146; expect == 5.7e-36; MEOW:HUgn0000389 (42%) |species == Yeast; gene == RHO2; score == 146; expect == 9.9e-36; MEOW:SGgn0005034 (42%) |species == rat; score == 146; expect == 5.8e-36; MEOW:ref|XP_215659.1| (42%) |species == Human; gene == ARHQ; score == 145; expect == 1.7e-35; MEOW:HUgn0023433 (43%) |species == Mouse; gene == Arhc; score == 145; expect == 8.6e-36; MEOW:MGgn0000504 (42%) |species == Mouse; gene == 4930544G11Rik; score == 145; expect == 8.6e-36; MEOW:MGgn0024327 (42%) |species == Yeast; gene == CDC42; score == 145; expect == 5.0e-36; MEOW:SGgn0004219 (42%) |species == rat; score == 145; expect == 1.7e-35; MEOW:ref|NP_445974.1| (43%) |species == Weed; gene == At4g35020; score == 144; expect == 3.8e-35; MEOW:ATgn0019869 (42%) |species == Fruitfly; gene == Rho1; score == 144; expect == 1.3e-35; MEOW:FBgn0014020 (42%) |species == Human; gene == ARHA; score == 144; expect == 2.9e-35; MEOW:HUgn0000387 (42%) |species == Human; gene == ARHB; score == 144; expect == 2.9e-35; MEOW:HUgn0000388 (42%) |species == Human; gene == LOC256000; score == 144; expect == 2.9e-35; MEOW:HUgn0256000 (41%) |species == Mouse; gene == Arha; score == 144; expect == 1.9e-35; MEOW:MGgn0000499 (42%) |species == Mouse; gene == Arhb; score == 144; expect == 1.9e-35; MEOW:MGgn0000503 (42%) |species == Mouse; gene == Arhq; score == 144; expect == 1.5e-35; MEOW:MGgn0028825 (43%) |species == rat; score == 144; expect == 2.9e-35; MEOW:ref|NP_071987.1| (42%) |species == rat; score == 144; expect == 2.9e-35; MEOW:ref|NP_476473.1| (42%) |species == rat; score == 144; expect == 2.9e-35; MEOW:ref|NP_872611.1| (42%) |species == Weed; gene == At2g44690; score == 143; expect == 6.4e-35; MEOW:ATgn0009384 (41%) |species == Worm; gene == rac-2; score == 141; expect == 1.3e-34; MEOW:CEgn0002414 (41%) |species == Worm; gene == rho-1; score == 141; expect == 1.3e-34; MEOW:CEgn0002440 (40%) |species == Weed; gene == At5g45970; score == 140; expect == 5.4e-34; MEOW:ATgn0025201 (41%) |species == Weed; gene == At4g35950; score == 139; expect == 1.2e-33; MEOW:ATgn0017181 (40%) |species == rat; score == 139; expect == 9.3e-34; MEOW:ref|XP_216737.1| (41%) |species == rat; score == 139; expect == 9.3e-34; MEOW:ref|XP_218977.1| (40%) |species == Weed; gene == At3g48040; score == 138; expect == 1.6e-33; MEOW:ATgn0014385 (41%) |species == Weed; gene == At1g20090; score == 137; expect == 4.6e-33; MEOW:ATgn0002656 (40%) |species == Weed; gene == At3g51300; score == 137; expect == 3.5e-33; MEOW:ATgn0016712 (39%) |species == Weed; gene == At2g17800; score == 137; expect == 4.6e-33; MEOW:ATgn0028405 (40%) |species == rice; score == 137; expect == 7.4e-33; MEOW:gnl|TIGR|8353.m03879 (39%) |species == Mosquito; gene == LOC20445; score == 136; expect == 5.9e-33; MEOW:AGgn0020445 (40%) |species == Weed; gene == At1g75840; score == 136; expect == 7.8e-33; MEOW:ATgn0001933 (40%) |species == Weed; gene == At4g28950; score == 136; expect == 1.0e-32; MEOW:ATgn0020080 (39%) |species == Fruitfly; gene == RhoL; score == 134; expect == 1.4e-32; MEOW:FBgn0014380 (41%) |species == Yeast; gene == RHO1; score == 133; expect == 1.5e-32; MEOW:SGgn0006369 (40%) |species == rice; score == 133; expect == 1.1e-31; MEOW:gnl|TIGR|8351.m04847 (40%) |species == rice; score == 131; expect == 6.9e-31; MEOW:gnl|TIGR|8351.m05658 (37%) } # EOR GENR { RETE|ID 1 HUgn0000400 CHR 1 12 DID 1 LocusLink:400 MAP 1 12q23.3 NAM 1 ADP-ribosylation factor-like 1 ORG 1 Homo sapiens SYM 1 ARL1 ID|HUgn0000400 DID|LocusLink:400 ORG|Homo sapiens RSQ|REFSEQ:NM_001177 RPA|REFPROT:NP_001168 DBA|XM:NM_001177 |NA:AF493887 |NA:AK001489 |NA:AL701988 |NA:BC007000 |NA:BT007260 |NA:BX537387 |NA:CD686919 |NA:L28997 |NA:none PAC|XP:NP_001168 SYM|ARL1 NAM|ADP-ribosylation factor-like 1 SYN|ARFL1 FNC|ADP-ribosylation factor-like 1 |small GTPase mediated signal transduction ; GO:0007264 REAB|The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) |family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). |ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, |regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase |D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT |or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid |dependent manner. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=372616 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=400[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:321053 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001177 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001177 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=372616 DBL|UNIGENE:Hs.372616 |OMIM:603425 |SNP:400 MAP|12q23.3 ENZ|small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 |enzyme activator activity ; GO:0008047 HG|species == rat; score == 330; expect == 3.3e-91; MEOW:ref|NP_071780.1| (98%) |species == Mouse; gene == Arl1; score == 328; expect == 5.0e-91; MEOW:MGgn0000513 (98%) |species == Fruitfly; gene == Arf72A; score == 278; expect == 1.2e-75; MEOW:FBgn0000115 (77%) |species == Mosquito; score == 277; expect == 4.0e-75; MEOW:AGgn0014175 (77%) |species == Worm; gene == arl-1; score == 263; expect == 3.8e-71; MEOW:CEgn0000076 (71%) |species == Weed; gene == ARF3; score == 246; expect == 6.4e-66; MEOW:ATgn0027987 (65%) |species == Worm; gene == arf-1; score == 230; expect == 2.8e-61; MEOW:CEgn0000073 (60%) |species == Yeast; gene == ARL1; score == 228; expect == 4.1e-61; MEOW:SGgn0000368 (65%) |species == Mosquito; score == 224; expect == 1.5e-59; MEOW:AGgn0015770 (58%) |species == Fruitfly; gene == Arf79F; score == 223; expect == 5.7e-59; MEOW:FBgn0010348 (58%) |species == Human; gene == ARF1; score == 221; expect == 1.3e-58; MEOW:HUgn0000375 (56%) |species == Human; gene == ARF3; score == 220; expect == 2.8e-58; MEOW:HUgn0000377 (56%) |species == Yeast; gene == ARF2; score == 220; expect == 2.8e-58; MEOW:SGgn0002296 (57%) |species == Yeast; gene == ARF1; score == 220; expect == 3.7e-58; MEOW:SGgn0002351 (59%) |species == rice; score == 219; expect == 6.9e-58; MEOW:gnl|TIGR|8356.m01436 (59%) |species == Weed; gene == At1g10630; score == 217; expect == 3.1e-57; MEOW:ATgn0004275 (57%) |species == Weed; gene == At3g62290; score == 216; expect == 7.0e-57; MEOW:ATgn0014715 (57%) |species == Weed; gene == At2g47170; score == 216; expect == 4.1e-57; MEOW:ATgn0027995 (57%) |species == Human; gene == ARF5; score == 216; expect == 4.1e-57; MEOW:HUgn0000381 (58%) |species == rice; score == 216; expect == 1.2e-56; MEOW:gnl|TIGR|8355.m01123 (57%) |species == rice; score == 216; expect == 4.1e-57; MEOW:gnl|TIGR|8360.m05383 (57%) |species == Weed; gene == ARF1; score == 215; expect == 9.2e-57; MEOW:ATgn0002195 (57%) |species == Weed; gene == At1g23490; score == 215; expect == 9.2e-57; MEOW:ATgn0006558 (57%) |species == Weed; gene == ARF1; score == 215; expect == 9.8e-57; MEOW:ATgn0021222 (57%) |species == rice; score == 215; expect == 1.3e-56; MEOW:gnl|TIGR|8350.m01510 (57%) |species == Worm; gene == arf-3; score == 214; expect == 1.5e-56; MEOW:CEgn0000074 (59%) |species == rice; score == 214; expect == 2.0e-56; MEOW:gnl|TIGR|8353.m03647 (56%) |species == Human; gene == ARF4; score == 213; expect == 5.9e-56; MEOW:HUgn0000378 (58%) |species == rice; score == 209; expect == 9.2e-55; MEOW:gnl|TIGR|8350.m05602 (55%) |species == rice; score == 209; expect == 7.4e-55; MEOW:gnl|TIGR|8351.m04472 (55%) |species == Weed; gene == At5g17060; score == 208; expect == 2.1e-54; MEOW:ATgn0023401 (55%) |species == rice; score == 207; expect == 3.6e-54; MEOW:gnl|TIGR|8362.m03532 (55%) |species == Weed; gene == At3g03120; score == 205; expect == 1.1e-53; MEOW:ATgn0013780 (54%) |species == Human; gene == ARF6; score == 205; expect == 8.8e-54; MEOW:HUgn0000382 (55%) |species == rice; score == 205; expect == 1.1e-53; MEOW:gnl|TIGR|8355.m01126 (52%) |species == rice; score == 191; expect == 1.5e-49; MEOW:gnl|TIGR|8354.m00134 (51%) |species == Human; gene == ARL5; score == 178; expect == 1.6e-45; MEOW:HUgn0026225 (48%) |species == Human; gene == ARL8; score == 177; expect == 2.1e-45; MEOW:HUgn0221079 (48%) } # EOR GENR { RETE|ID 1 HUgn0000401 CHR 1 11 DID 1 LocusLink:401 MAP 1 11q13.2 NAM 1 paired-like (aristaless) homeobox 2a ORG 1 Homo sapiens SYM 1 PHOX2A ID|HUgn0000401 DID|LocusLink:401 ORG|Homo sapiens RSQ|REFSEQ:NM_005169 RPA|REFPROT:NP_005160 DBA|XM:NM_005169 |NA:AF022722 |NA:AF022723 |NA:AF022724 |NA:BC041564 |NA:none PAC|XP:NP_005160 SYM|PHOX2A NAM|paired-like (aristaless) homeobox 2a SYN|ARIX |FEOM2 |NCAM2 |PMX2A |CFEOM2 FNC|paired-like homeobox 2a |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 |neurotransmitter metabolism ; GO:0042133 REAB|This gene shares similarity with the Drosophila aristaless gene. The encoded protein |is expressed specifically in noradrenergic cell types of the sympathetic nervous |system, brain, and adrenal medulla. It interacts with the regulatory elements of |the genes encoding the noradrenergic biosynthetic enzymes tyrosine hydroxylase and |dopamine beta-hydroxylase, suggesting a role in expression of the noradrenergic |phenotype. CHR|11 PRD|aristaless homeobox homolog |fibrosis of extraocular muscles, congenital, 2, autosomal recessive URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=276879 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=401[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698470 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9954480 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005169 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005169 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=276879 |http://www.geneclinics.org/query?mim=602078 |http://www.geneclinics.org/query?mim=602753 DBL|UNIGENE:Hs.276879 |OMIM:602753 |SNP:401 MAP|11q13.2 PHP|Fibrosis of extraocular muscles, congenital, 2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 366; expect == 9e-102; MEOW:ref|NP_446321.1| (90%) |species == Mouse; gene == Phox2a; score == 305; expect == 1.2e-83; MEOW:MGgn0000512 (98%) |species == Human; gene == PHOX2B; score == 221; expect == 2.7e-58; MEOW:HUgn0008929 (67%) |species == rat; score == 196; expect == 8.2e-51; MEOW:ref|XP_344240.1| (70%) } # EOR GENR { RETE|ID 1 HUgn0000402 CHR 1 11 DID 1 LocusLink:402 MAP 1 11q13 NAM 1 ADP-ribosylation factor-like 2 ORG 1 Homo sapiens SYM 1 ARL2 ID|HUgn0000402 DID|LocusLink:402 ORG|Homo sapiens RSQ|REFSEQ:NM_001667 RPA|REFPROT:NP_001658 DBA|XM:NM_001667 |NA:BC002530 |NA:L13687 |NA:none PAC|XP:NP_001658 SYM|ARL2 NAM|ADP-ribosylation factor-like 2 SYN|ARFL2 FNC|ADP-ribosylation factor-like 2 |tubulin folding ; GO:0007021 |small GTPase mediated signal transduction ; GO:0007264 REAB|The ADP-ribosylation factor (ARF) genes are small GTP-binding proteins of the RAS |superfamily. ARL2 is a member of a functionally distinct group of ARF-like genes. CHR|11 PRD|ADP=ribosylation factor-like 2 DBL|OMIM:601175 |SNP:402 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:235919 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001667 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001667 ENZ|GTPase inhibitor activity ; GO:0005095 |small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 HG|species == Mouse; gene == Arl2; score == 360; expect == 1e-100; MEOW:MGgn0015015 (96%) |species == rat; score == 358; expect == 9e-100; MEOW:ref|NP_113899.1| (95%) |species == Fruitfly; gene == Arf84F; score == 294; expect == 1.3e-80; MEOW:FBgn0004908 (75%) |species == Weed; gene == ARL2; score == 250; expect == 2.7e-67; MEOW:ATgn0008184 (63%) |species == Mosquito; score == 238; expect == 7.9e-64; MEOW:AGgn0003581 (72%) |species == Human; gene == ARL3; score == 203; expect == 6.4e-53; MEOW:HUgn0000403 (53%) |species == rice; score == 203; expect == 7.8e-53; MEOW:gnl|TIGR|8351.m02075 (66%) |species == Mosquito; score == 193; expect == 2.9e-50; MEOW:AGgn0003927 (50%) |species == Worm; gene == arl-3; score == 179; expect == 4.0e-46; MEOW:CEgn0000078 (50%) |species == rice; score == 176; expect == 1.7e-44; MEOW:gnl|TIGR|8355.m01123 (50%) |species == rice; score == 176; expect == 1.7e-44; MEOW:gnl|TIGR|8360.m05383 (50%) |species == rice; score == 174; expect == 2.5e-44; MEOW:gnl|TIGR|8350.m01510 (49%) |species == rice; score == 174; expect == 2.3e-44; MEOW:gnl|TIGR|8353.m03647 (48%) |species == Yeast; gene == ARL1; score == 173; expect == 1.2e-44; MEOW:SGgn0000368 (47%) |species == Worm; gene == arf-1; score == 171; expect == 1.1e-43; MEOW:CEgn0000073 (47%) |species == Human; gene == ARF3; score == 171; expect == 1.6e-43; MEOW:HUgn0000377 (46%) |species == Human; gene == ARF1; score == 170; expect == 3.5e-43; MEOW:HUgn0000375 (46%) |species == Worm; gene == arf-3; score == 169; expect == 4.2e-43; MEOW:CEgn0000074 (47%) |species == rice; score == 169; expect == 1.1e-42; MEOW:gnl|TIGR|8350.m05602 (47%) |species == Human; gene == ARF5; score == 167; expect == 2.8e-42; MEOW:HUgn0000381 (46%) |species == Human; gene == ARF4; score == 166; expect == 5.0e-42; MEOW:HUgn0000378 (46%) |species == rice; score == 165; expect == 1.7e-41; MEOW:gnl|TIGR|8355.m01126 (45%) |species == Yeast; gene == ARF2; score == 164; expect == 3.2e-41; MEOW:SGgn0002296 (44%) |species == Yeast; gene == ARF1; score == 163; expect == 1.3e-41; MEOW:SGgn0002351 (45%) |species == Worm; gene == arl-1; score == 158; expect == 1.3e-39; MEOW:CEgn0000076 (45%) |species == Yeast; gene == ARF3; score == 157; expect == 3.0e-39; MEOW:SGgn0005620 (44%) |species == Worm; gene == arf-6; score == 152; expect == 9.0e-38; MEOW:CEgn0020396 (45%) |species == Worm; gene == arl-6; score == 148; expect == 1.0e-36; MEOW:CEgn0000081 (47%) |species == Zfish; gene == dkfzp761h079; score == 131; expect == 1.8e-32; MEOW:ZFgn0002635 (37%) } # EOR GENR { RETE|ID 1 HUgn0000403 CHR 1 10 DID 1 LocusLink:403 MAP 1 10q23.3 NAM 1 ADP-ribosylation factor-like 3 ORG 1 Homo sapiens SYM 1 ARL3 ID|HUgn0000403 DID|LocusLink:403 ORG|Homo sapiens RSQ|REFSEQ:NM_004311 RPA|REFPROT:NP_004302 DBA|XM:NM_004311 |NA:AA325516 |NA:AF038193 |NA:AW269939 |NA:BC008032 |NA:BC009841 |NA:BC025759 |NA:BE780186 |NA:BQ638232 |NA:CD245572 |NA:U07151 |NA:none PAC|XP:NP_004302 SYM|ARL3 NAM|ADP-ribosylation factor-like 3 SYN|ARFL3 FNC|ADP-ribosylation factor-like 3 |small GTPase mediated signal transduction ; GO:0007264 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family |of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation |factor activity. CHR|10 PRD|ARF-like 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=182215 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=403[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:321054 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004311 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004311 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=182215 DBL|UNIGENE:Hs.182215 |OMIM:604695 |SNP:403 MAP|10q23.3 ENZ|small monomeric GTPase activity ; GO:0003925 |GTP binding ; GO:0005525 |signal transducer activity ; GO:0004871 HG|species == Mouse; gene == Arl3; score == 327; expect == 1.9e-90; MEOW:MGgn0027659 (98%) |species == rat; score == 325; expect == 8.3e-90; MEOW:ref|NP_073191.1| (97%) |species == Fruitfly; gene == CG6560; score == 245; expect == 1.4e-65; MEOW:FBgn0038916 (65%) |species == Mosquito; score == 244; expect == 1.4e-65; MEOW:AGgn0003927 (73%) |species == Worm; gene == arl-3; score == 244; expect == 2.5e-65; MEOW:CEgn0000078 (63%) |species == Human; gene == ARL2; score == 203; expect == 6.4e-53; MEOW:HUgn0000402 (53%) |species == Weed; gene == ARL2; score == 163; expect == 4.2e-41; MEOW:ATgn0008184 (48%) |species == Weed; gene == At2g15310; score == 158; expect == 2.2e-39; MEOW:ATgn0011201 (43%) |species == rice; score == 152; expect == 8.1e-38; MEOW:gnl|TIGR|8362.m03532 (41%) |species == rice; score == 151; expect == 5.9e-37; MEOW:gnl|TIGR|8355.m01123 (48%) |species == rice; score == 151; expect == 5.9e-37; MEOW:gnl|TIGR|8360.m05383 (48%) |species == Weed; gene == ARF1; score == 149; expect == 1.1e-36; MEOW:ATgn0002195 (47%) |species == Weed; gene == At1g10630; score == 149; expect == 8.2e-37; MEOW:ATgn0004275 (47%) |species == Weed; gene == At1g23490; score == 149; expect == 1.1e-36; MEOW:ATgn0006558 (47%) |species == Weed; gene == ARF1; score == 149; expect == 1.1e-36; MEOW:ATgn0021222 (47%) |species == Weed; gene == At2g47170; score == 149; expect == 8.2e-37; MEOW:ATgn0027995 (47%) |species == rice; score == 149; expect == 1.3e-36; MEOW:gnl|TIGR|8350.m01510 (48%) |species == rice; score == 149; expect == 2.3e-36; MEOW:gnl|TIGR|8353.m03647 (47%) |species == Weed; gene == At3g62290; score == 148; expect == 1.8e-36; MEOW:ATgn0014715 (47%) |species == rice; score == 146; expect == 1.5e-35; MEOW:gnl|TIGR|8351.m04472 (42%) |species == Weed; gene == At5g17060; score == 144; expect == 2.0e-35; MEOW:ATgn0023401 (43%) |species == Weed; gene == ARF3; score == 144; expect == 3.5e-35; MEOW:ATgn0027987 (46%) |species == Yeast; gene == ARL1; score == 143; expect == 1.3e-35; MEOW:SGgn0000368 (45%) |species == Yeast; gene == ARF2; score == 143; expect == 1.7e-35; MEOW:SGgn0002296 (46%) |species == rice; score == 141; expect == 3.6e-34; MEOW:gnl|TIGR|8355.m01126 (43%) |species == Yeast; gene == ARF1; score == 140; expect == 1.5e-34; MEOW:SGgn0002351 (44%) |species == Yeast; gene == ARF3; score == 136; expect == 1.6e-33; MEOW:SGgn0005620 (42%) |species == rice; score == 136; expect == 1.5e-32; MEOW:gnl|TIGR|8351.m02075 (52%) |species == rice; score == 133; expect == 9.8e-32; MEOW:gnl|TIGR|8354.m00134 (40%) } # EOR GENR { RETE|ID 1 HUgn0000404 CHR 1 1 DID 1 LocusLink:404 MAP 1 1q25-q31 NAM 1 age-related macular degeneration 1 (senile macular degeneration) ORG 1 Homo sapiens SYM 1 ARMD1 ID|HUgn0000404 DID|LocusLink:404 ORG|Homo sapiens SYM|ARMD1 NAM|age-related macular degeneration 1 (senile macular degeneration) SYN|AMD CHR|1 DBL|OMIM:603075 MAP|1q25-q31 PHP|Macular degeneration, age-related, 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834180 |http://www.geneclinics.org/query?mim=603075 } # EOR GENR { RETE|ID 1 HUgn0000405 CHR 1 1 DID 1 LocusLink:405 MAP 1 1q21 NAM 1 aryl hydrocarbon receptor nuclear translocator ORG 1 Homo sapiens SYM 1 ARNT ID|HUgn0000405 DID|LocusLink:405 ORG|Homo sapiens RSQ|REFSEQ:NM_001668 |REFSEQ:NM_178426 |REFSEQ:NM_178427 RPA|REFPROT:NP_001659 |REFPROT:NP_848513 |REFPROT:NP_848514 DBA|XM:NM_001668 |XM:NM_178426 |XM:NM_178427 |NA:Y18859 |NA:AF001307 |NA:AL137290 |NA:AL834279 |NA:BC028362 |NA:BC041121 |NA:BC060838 |NA:M69238 |NA:none PAC|XP:NP_001659 |XP:NP_848513 |XP:NP_848514 SYM|ARNT NAM|aryl hydrocarbon receptor nuclear translocator SYN|HIF1B |TANGO |HIF1BETA |HIF1beta |HIF-1beta FNC|aryl hydrocarbon receptor nuclear translocator isoform 1 |aryl hydrocarbon receptor nuclear translocator isoform 2 |aryl hydrocarbon receptor nuclear translocator isoform 3 REAB|The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes |that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the |Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes |dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding |subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism |occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive |elements in the promoters of genes for these enzymes. This gene encodes a protein |that forms a complex with the ligand-bound Ah receptor, and is required for receptor |function. The encoded protein has also been identified as the beta subunit of a |heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) |translocation, which results in a TEL-ARNT fusion protein, is associated with acute |myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms |have been described for this gene. CHR|1 PRD|dioxin receptor, nuclear translocator |hypoxia-inducible factor 1, beta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=131494 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=405[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119701 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001668 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001668 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=131494 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04710 DBL|UNIGENE:Hs.131494 |OMIM:126110 |SNP:405 MAP|1q21 PHP|Leukemia, acute myeloblastic HG|species == Mouse; gene == Arnt; score == 1312; expect == 0.0; MEOW:MGgn0000516 (88%) |species == rat; score == 929; expect == 0.0; MEOW:ref|XP_346630.1| (96%) |species == Human; gene == ARNT2; score == 755; expect == 0.0; MEOW:HUgn0009915 (57%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_036913.1| (57%) |species == Zfish; gene == arnt2; score == 562; expect == 1e-160; MEOW:ZFgn0001999 (73%) |species == Fruitfly; gene == tgo; score == 491; expect == 7e-139; MEOW:FBgn0015014 (62%) |species == Mosquito; gene == LOC14395; score == 347; expect == 5.0e-96; MEOW:AGgn0014395 (53%) |species == Worm; gene == aha-1; score == 340; expect == 7.3e-94; MEOW:CEgn0000051 (47%) |species == Mosquito; gene == LOC7299; score == 312; expect == 3.6e-85; MEOW:AGgn0007299 (43%) |species == Mosquito; score == 310; expect == 1.3e-84; MEOW:AGgn0027387 (42%) } # EOR GENR { RETE|ID 1 HUgn0000406 CHR 1 11 DID 1 LocusLink:406 MAP 1 11p15 NAM 1 aryl hydrocarbon receptor nuclear translocator-like ORG 1 Homo sapiens SYM 1 ARNTL ID|HUgn0000406 DID|LocusLink:406 ORG|Homo sapiens RSQ|REFSEQ:NM_001178 RPA|REFPROT:NP_001169 DBA|XM:NM_001178 |NA:AB000812 |NA:AB000815 |NA:AF044288 |NA:AK095749 |NA:BC016674 |NA:BC031214 |NA:BC034314 |NA:BC041129 |NA:D89722 |NA:U51627 |NA:U60415 |NA:none PAC|XP:NP_001169 SYM|ARNTL NAM|aryl hydrocarbon receptor nuclear translocator-like SYN|TIC |JAP3 |MOP3 |BMAL1 FNC|aryl hydrocarbon receptor nuclear translocator-like |circadian rhythm ; GO:0007623 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65734 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=406[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9499440 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001178 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001178 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=65734 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04710 DBL|UNIGENE:Hs.65734 |OMIM:602550 |SNP:406 MAP|11p15 ENZ|signal transducer activity ; GO:0004871 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Arntl; score == 1232; expect == 0.0; MEOW:MGgn0000518 (98%) |species == rat; score == 1192; expect == 0.0; MEOW:ref|NP_077338.1| (97%) |species == Zfish; gene == arntl1a; score == 1041; expect == 0.0; MEOW:ZFgn0000901 (84%) |species == Human; gene == ARNTL2; score == 563; expect == 1e-160; MEOW:HUgn0056938 (48%) |species == Mosquito; gene == LOC7299; score == 544; expect == 4e-155; MEOW:AGgn0007299 (52%) |species == Mosquito; score == 458; expect == 3e-129; MEOW:AGgn0027387 (58%) |species == Fruitfly; gene == cyc; score == 420; expect == 8e-118; MEOW:FBgn0023094 (51%) |species == Mouse; gene == Arnt2; score == 321; expect == 5.8e-88; MEOW:MGgn0000517 (35%) |species == Mouse; gene == Arnt; score == 311; expect == 6.0e-85; MEOW:MGgn0000516 (42%) |species == Worm; gene == aha-1; score == 211; expect == 5.1e-55; MEOW:CEgn0000051 (33%) } # EOR GENR { RETE|ID 1 HUgn0000407 CHR 1 X DID 1 LocusLink:407 MAP 1 Xcen-q21 NAM 1 arrestin 3, retinal (X-arrestin) ORG 1 Homo sapiens SYM 1 ARR3 ID|HUgn0000407 DID|LocusLink:407 ORG|Homo sapiens RSQ|REFSEQ:NM_004312 RPA|REFPROT:NP_004303 DBA|XM:NM_004312 |NA:AF076512 |NA:AF033105 |NA:BC012096 |NA:U03626 |NA:none PAC|XP:NP_004303 SYM|ARR3 NAM|arrestin 3, retinal (X-arrestin) SYN|ARRX FNC|arrestin 3, retinal (X-arrestin) |vision ; GO:0007601 |signal transduction ; GO:0007165 CHR|X PRD|Arrestin 3, retinal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=308 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=407[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269808 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004312 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004312 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=308 DBL|UNIGENE:Hs.308 |OMIM:301770 |SNP:407 MAP|Xcen-q21 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Arr3; score == 609; expect == 1e-174; MEOW:MGgn0040235 (82%) |species == rat; score == 462; expect == 2e-130; MEOW:ref|NP_037042.1| (56%) |species == Human; gene == ARRB1; score == 461; expect == 2e-130; MEOW:HUgn0000408 (56%) |species == rat; score == 423; expect == 7e-119; MEOW:ref|XP_343797.1| (64%) |species == Human; gene == ARRB2; score == 414; expect == 4e-116; MEOW:HUgn0000409 (58%) |species == rat; score == 405; expect == 3e-113; MEOW:ref|XP_346401.1| (57%) |species == rat; score == 396; expect == 2e-110; MEOW:ref|NP_037155.1| (51%) |species == Human; gene == SAG; score == 384; expect == 5e-107; MEOW:HUgn0006295 (50%) |species == Mosquito; score == 352; expect == 1.5e-97; MEOW:AGgn0004989 (50%) |species == Fruitfly; gene == krz; score == 344; expect == 4.2e-95; MEOW:FBgn0040206 (49%) |species == Worm; gene == arr-1; score == 309; expect == 1.0e-84; MEOW:CEgn0011693 (47%) |species == Mosquito; score == 299; expect == 1.1e-81; MEOW:AGgn0012569 (44%) |species == Fruitfly; gene == Arr1; score == 290; expect == 7.2e-79; MEOW:FBgn0000120 (43%) } # EOR GENR { RETE|ID 1 HUgn0000408 CHR 1 11 DID 1 LocusLink:408 MAP 1 11q13 NAM 1 arrestin, beta 1 ORG 1 Homo sapiens SYM 1 ARRB1 ID|HUgn0000408 DID|LocusLink:408 ORG|Homo sapiens RSQ|REFSEQ:NM_004041 |REFSEQ:NM_020251 RPA|REFPROT:NP_004032 |REFPROT:NP_064647 DBA|XM:NM_004041 |XM:NM_020251 |NA:AF084040 |NA:AF084940 |NA:BC003636 |NA:L04685 |NA:none PAC|XP:NP_004032 |XP:NP_064647 SYM|ARRB1 NAM|arrestin, beta 1 SYN|ARB1 |ARR1 FNC|arrestin beta 1 isoform A |arrestin beta 1 isoform B |sensory perception ; GO:0007600 |signal transduction ; GO:0007165 REAB|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated |desensitization of G-protein-coupled receptors and cause specific dampening of cellular |responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin |beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor |kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the |central nervous system, it is expressed at high levels in peripheral blood leukocytes, |and thus the BARK/beta-arrestin system is believed to play a major role in regulating |receptor-mediated immune functions. Alternatively spliced transcripts encoding |different isoforms of arrestin beta 1 have been described, however, their exact |functions are not known. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112278 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=408[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141541 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004041 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004041 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=112278 DBL|UNIGENE:Hs.112278 |OMIM:107940 |SNP:408 MAP|11q13 ENZ|enzyme inhibitor activity ; GO:0004857 CEL|heterotrimeric G-protein complex ; GO:0005834 |soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 |plasma membrane ; GO:0005886 HG|species == rat; score == 680; expect == 0.0; MEOW:ref|NP_037042.1| (99%) |species == Mouse; gene == Arrb1; score == 674; expect == 0.0; MEOW:MGgn0000522 (98%) |species == Mouse; gene == Arrb2; score == 585; expect == 2e-167; MEOW:MGgn0000523 (75%) |species == rat; score == 583; expect == 4e-167; MEOW:ref|XP_346401.1| (75%) |species == Human; gene == ARRB2; score == 558; expect == 2e-159; MEOW:HUgn0000409 (76%) |species == Human; gene == ARR3; score == 461; expect == 2e-130; MEOW:HUgn0000407 (56%) |species == Fruitfly; gene == krz; score == 453; expect == 1e-127; MEOW:FBgn0040206 (65%) |species == Mosquito; score == 444; expect == 6e-125; MEOW:AGgn0004989 (58%) |species == Worm; gene == arr-1; score == 422; expect == 2e-118; MEOW:CEgn0011693 (54%) } # EOR GENR { RETE|ID 1 HUgn0000409 CHR 1 17 DID 1 LocusLink:409 MAP 1 17p13 NAM 1 arrestin, beta 2 ORG 1 Homo sapiens SYM 1 ARRB2 ID|HUgn0000409 DID|LocusLink:409 ORG|Homo sapiens RSQ|REFSEQ:NM_004313 RPA|REFPROT:NP_004304 DBA|XM:NM_004313 |NA:AF106941 |NA:AK097542 |NA:BC007427 |NA:BC039066 |NA:BG723452 |NA:Z11501 |NA:none PAC|XP:NP_004304 SYM|ARRB2 NAM|arrestin, beta 2 SYN|ARB2 |ARR2 FNC|arrestin beta 2 REAB|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated |desensitization of G-protein-coupled receptors and cause specific dampening of cellular |responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin |beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function |in vitro. It is expressed at high levels in the central nervous system and may |play a role in the regulation of synaptic receptors. Besides the brain, a cDNA |for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved |in hormone-specific desensitization of TSH receptors. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435811 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=409[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141542 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004313 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004313 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435811 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA60 DBL|UNIGENE:Hs.435811 |OMIM:107941 |SNP:409 MAP|17p13 HG|species == Mouse; gene == Arrb2; score == 737; expect == 0.0; MEOW:MGgn0000523 (96%) |species == rat; score == 734; expect == 0.0; MEOW:ref|XP_346401.1| (96%) |species == Human; gene == ARRB1; score == 558; expect == 2e-159; MEOW:HUgn0000408 (76%) |species == rat; score == 558; expect == 3e-159; MEOW:ref|NP_037042.1| (77%) |species == Mouse; gene == Arrb1; score == 556; expect == 5e-159; MEOW:MGgn0000522 (77%) |species == Mosquito; score == 441; expect == 3e-124; MEOW:AGgn0004989 (57%) |species == Fruitfly; gene == krz; score == 438; expect == 4e-123; MEOW:FBgn0040206 (56%) |species == Worm; gene == arr-1; score == 414; expect == 6e-116; MEOW:CEgn0011693 (52%) } # EOR GENR { RETE|ID 1 HUgn0000410 CHR 1 22 DID 1 LocusLink:410 MAP 1 22q13.31-qter NAM 1 arylsulfatase A ORG 1 Homo sapiens SYM 1 ARSA ID|HUgn0000410 DID|LocusLink:410 ORG|Homo sapiens RSQ|REFSEQ:NM_000487 RPA|REFPROT:NP_000478 DBA|XM:NM_000487 |NA:U62317 |NA:X52150 |NA:AK092752 |NA:AK098659 |NA:BC014210 |NA:BX648618 |NA:X52151 |NA:none PAC|XP:NP_000478 SYM|ARSA NAM|arylsulfatase A SYN|MLD FNC|arylsulfatase A precursor |sphingolipid metabolism ; GO:0006665 |metabolism ; GO:0008152 REAB|The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and |sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive |demyelination disease which results in a variety of neurological symptoms and ultimately |death. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=88251 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=410[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119007 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000487 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000487 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=88251 |http://www.geneclinics.org/query?mim=250100 |http://www.geneclinics.org/query?mim=607574 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 DBL|UNIGENE:Hs.88251 |OMIM:607574 |SNP:410 ENZ|EC:3.1.6.8 |arylsulfatase activity ; GO:0004065 |cerebroside-sulfatase activity ; GO:0004098 |hydrolase activity ; GO:0016787 MAP|22q13.31-qter PHP|Metachromatic leukodystrophy CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Arsa; score == 840; expect == 0.0; MEOW:MGgn0000537 (87%) |species == rat; score == 834; expect == 0.0; MEOW:ref|XP_235566.2| (86%) |species == Human; gene == KIAA1001; score == 266; expect == 2.1e-71; MEOW:HUgn0022901 (37%) |species == Human; gene == GALNS; score == 244; expect == 8.5e-65; MEOW:HUgn0002588 (36%) |species == Worm; gene == D1014.1; score == 147; expect == 9.1e-36; MEOW:CEgn0007296 (36%) } # EOR GENR { RETE|ID 1 HUgn0000411 CHR 1 5 DID 1 LocusLink:411 MAP 1 5p11-q13 NAM 1 arylsulfatase B ORG 1 Homo sapiens SYM 1 ARSB ID|HUgn0000411 DID|LocusLink:411 ORG|Homo sapiens RSQ|REFSEQ:NM_000046 RPA|REFPROT:NP_000037 DBA|XM:NM_000046 |NA:S57777 |NA:X72735 |NA:AI244301 |NA:AI457798 |NA:AI821478 |NA:AK026942 |NA:AL135624 |NA:AW236748 |NA:BC029051 |NA:BC036609 |NA:BM664932 |NA:BQ216635 |NA:BQ775217 |NA:BX350102 |NA:BX364854 |NA:BX369127 |NA:J05225 |NA:M32373 |NA:none PAC|XP:NP_000037 SYM|ARSB NAM|arylsulfatase B SYN|ASB |G4S |MPS6 FNC|arylsulfatase B isoform 1 precursor |lysosomal transport ; GO:0007041 |metabolism ; GO:0008152 |glycosaminoglycan metabolism ; GO:0030203 REAB|Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase |B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, |and dermatan sulfate. The protein is targetted to the lysozyme. Defects in this |gene cause Maroteaux-Lamy syndrome. Two alternatively spliced transcript variants |encoding distinct isoforms have been found for this gene. CHR|5 PRD|N-acetylgalactosamine-4-sulfatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=149103 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=411[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119008 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000046 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000046 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=149103 |http://www.geneclinics.org/query?mim=253200 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00531 DBL|UNIGENE:Hs.149103 |OMIM:253200 |SNP:411 ENZ|EC:3.1.6.12 |N-acetylgalactosamine-4-sulfatase activity ; GO:0003943 |arylsulfatase activity ; GO:0004065 |hydrolase activity ; GO:0016787 MAP|5p11-q13 PHP|Maroteaux-Lamy syndrome, several forms CEL|lysosome ; GO:0005764 HG|species == rat; score == 737; expect == 0.0; MEOW:ref|XP_345141.1| (79%) |species == Mouse; gene == Arsb; score == 608; expect == 2e-174; MEOW:MGgn0000535 (83%) |species == Human; gene == LOC340075; score == 544; expect == 4e-155; MEOW:HUgn0340075 (54%) |species == Mouse; gene == 9330196J05Rik; score == 543; expect == 1e-154; MEOW:MGgn0041231 (53%) |species == Mosquito; score == 332; expect == 4.3e-91; MEOW:AGgn0029647 (35%) |species == Mosquito; gene == LOC15642; score == 319; expect == 2.7e-87; MEOW:AGgn0015642 (34%) |species == Mosquito; gene == LOC18435; score == 317; expect == 8.3e-87; MEOW:AGgn0018435 (36%) |species == Fruitfly; gene == CG8646; score == 314; expect == 7.3e-86; MEOW:FBgn0033763 (42%) |species == Fruitfly; gene == CG32191; score == 284; expect == 1.0e-76; MEOW:FBgn0052191 (40%) |species == Worm; gene == C54D2.4; score == 250; expect == 1.1e-66; MEOW:CEgn0007078 (33%) } # EOR GENR { RETE|ID 1 HUgn0000412 CHR 1 X DID 1 LocusLink:412 MAP 1 Xp22.32 NAM 1 steroid sulfatase (microsomal), arylsulfatase C, isozyme S ORG 1 Homo sapiens SYM 1 STS ID|HUgn0000412 DID|LocusLink:412 ORG|Homo sapiens RSQ|REFSEQ:NM_000351 RPA|REFPROT:NP_000342 DBA|XM:NM_000351 |NA:J04964 |NA:M16505 |NA:M17591 |NA:none PAC|XP:NP_000342 SYM|STS NAM|steroid sulfatase (microsomal), arylsulfatase C, isozyme S SYN|ES |ASC |ARSC |SSDD |ARSC1 FNC|steryl-sulfatase precursor |steroid catabolism ; GO:0006706 |epidermal differentiation ; GO:0008544 |pregnancy ; GO:0007565 |metabolism ; GO:0008152 CHR|X PRD|arylsulfatase C |estrone sulfatase |steryl-sulfate sulfohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79876 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=412[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120393 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000351 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000351 |http://www.geneclinics.org/query?mim=308100 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 DBL|UNIGENE:Hs.79876 |OMIM:308100 |SNP:412 ENZ|EC:3.1.6.2 |steryl-sulfatase activity ; GO:0004773 |hydrolase activity ; GO:0016787 MAP|Xp22.32 PHP|Ichthyosis, X-linked |Placental steroid sulfatase deficiency CEL|endosome ; GO:0005768 |microsome ; GO:0005792 |Golgi apparatus ; GO:0005794 |lysosome ; GO:0005764 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_036793.1| (65%) |species == Mouse; gene == Sts; score == 686; expect == 0.0; MEOW:MGgn0011369 (60%) |species == Human; gene == ARSE; score == 588; expect == 3e-168; MEOW:HUgn0000415 (53%) |species == Human; gene == LOC347527; score == 588; expect == 3e-168; MEOW:HUgn0347527 (52%) |species == Human; gene == ARSD; score == 550; expect == 6e-157; MEOW:HUgn0000414 (48%) |species == Human; gene == ARSF; score == 540; expect == 7e-154; MEOW:HUgn0000416 (48%) } # EOR GENR { RETE|ID 1 HUgn0000413 CHR 1 X DID 1 LocusLink:413 MAP 1 Xpter-p22.32 NAM 1 arylsulfatase C, isozyme F ORG 1 Homo sapiens SYM 1 ARSC2 ID|HUgn0000413 DID|LocusLink:413 ORG|Homo sapiens SYM|ARSC2 NAM|arylsulfatase C, isozyme F SYN|ARSC CHR|X PRD|Arylsulfatase C, f form DBL|OMIM:301780 MAP|Xpter-p22.32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119702 } # EOR GENR { RETE|ID 1 HUgn0000414 CHR 1 X DID 1 LocusLink:414 MAP 1 Xp22.3 NAM 1 arylsulfatase D ORG 1 Homo sapiens SYM 1 ARSD ID|HUgn0000414 DID|LocusLink:414 ORG|Homo sapiens RSQ|REFSEQ:NM_001669 |REFSEQ:NM_009589 RPA|REFPROT:NP_001660 |REFPROT:NP_033667 DBA|XM:NM_001669 |XM:NM_009589 |NA:AF160499 |NA:AK021472 |NA:AK055239 |NA:BC020229 |NA:X83572 |NA:none PAC|XP:NP_001660 |XP:NP_033667 SYM|ARSD NAM|arylsulfatase D FNC|arylsulfatase D isoform a precursor |arylsulfatase D isoform b precursor REAB|The protein encoded by this gene is a member of the sulfatase family. Sulfatases |are essential for the correct composition of bone and cartilage matrix. This encoded |protein is postranslationally glycosylated and localized to the lysosome. Two splice |variants of this gene have been identified. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=349326 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555723 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_009589 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_009589 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=349326 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 DBL|UNIGENE:Hs.349326 |OMIM:300002 |SNP:414 ENZ|EC:3.1.6.1 |arylsulfatase activity ; GO:0004065 MAP|Xp22.3 HG|species == Human; gene == LOC347527; score == 697; expect == 0.0; MEOW:HUgn0347527 (63%) |species == Human; gene == ARSE; score == 670; expect == 0.0; MEOW:HUgn0000415 (62%) |species == Human; gene == ARSF; score == 643; expect == 0.0; MEOW:HUgn0000416 (58%) |species == rat; score == 556; expect == 1e-158; MEOW:ref|XP_227066.2| (51%) |species == rat; score == 518; expect == 3e-147; MEOW:ref|NP_036793.1| (48%) |species == Mouse; gene == Sts; score == 492; expect == 2e-139; MEOW:MGgn0011369 (49%) } # EOR GENR { RETE|ID 1 HUgn0000415 CHR 1 X DID 1 LocusLink:415 MAP 1 Xp22.3 NAM 1 arylsulfatase E (chondrodysplasia punctata 1) ORG 1 Homo sapiens SYM 1 ARSE ID|HUgn0000415 DID|LocusLink:415 ORG|Homo sapiens RSQ|REFSEQ:NM_000047 RPA|REFPROT:NP_000038 DBA|XM:NM_000047 |NA:X83573 |NA:none PAC|XP:NP_000038 SYM|ARSE NAM|arylsulfatase E (chondrodysplasia punctata 1) SYN|CDPX |CDPX1 |CDPXR FNC|arylsulfatase E precursor |skeletal development ; GO:0001501 |metabolism ; GO:0008152 REAB|Arylsulfatase E is a member of the sulfatase family. ARSE is glycosylated postranslationally |and localized to the golgi apparatus. Sulfatases are essential for the correct composition |of bone and cartilage matrix. X-linked chondrodysplasia punctata (CDPX), a disease |characterized by abnormalities in cartilage and bone development, has been linked |to mutations in this gene. CHR|X PRD|Arylsulfatase E |chondrodysplasia punctata 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386975 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=415[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555743 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000047 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000047 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 DBL|UNIGENE:Hs.386975 |OMIM:300180 |SNP:415 |UWCM:555743.html ENZ|EC:3.1.6.1 |arylsulfatase activity ; GO:0004065 |hydrolase activity ; GO:0016787 MAP|Xp22.3 PHP|Chondrodysplasia punctata, X-linked recessive HG|species == Human; gene == ARSD; score == 670; expect == 0.0; MEOW:HUgn0000414 (62%) |species == Human; gene == LOC347527; score == 650; expect == 0.0; MEOW:HUgn0347527 (60%) |species == Human; gene == ARSF; score == 622; expect == 2e-178; MEOW:HUgn0000416 (59%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|XP_227066.2| (55%) |species == Human; gene == STS; score == 588; expect == 3e-168; MEOW:HUgn0000412 (53%) |species == rat; score == 569; expect == 2e-162; MEOW:ref|NP_036793.1| (52%) |species == Mouse; gene == Sts; score == 504; expect == 6e-143; MEOW:MGgn0011369 (50%) |species == Worm; gene == D1014.1; score == 142; expect == 3.8e-34; MEOW:CEgn0007296 (48%) } # EOR GENR { RETE|ID 1 HUgn0000416 CHR 1 X DID 1 LocusLink:416 MAP 1 Xp22.3 NAM 1 arylsulfatase F ORG 1 Homo sapiens SYM 1 ARSF ID|HUgn0000416 DID|LocusLink:416 ORG|Homo sapiens RSQ|REFSEQ:NM_004042 RPA|REFPROT:NP_004033 DBA|XM:NM_004042 |NA:BC022389 |NA:BQ228278 |NA:X97868 |NA:none PAC|XP:NP_004033 SYM|ARSF NAM|arylsulfatase F SYN|ASF FNC|arylsulfatase F precursor REAB|This gene is a member of the sulfatase family, and more specifically, the arylsulfatase |subfamily. Members of the subfamily share similarity in sequence and splice sites, |and are clustered together on chromosome X, suggesting that they are derived from |recent gene duplication events. Sulfatases are essential for the correct composition |of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase |E, is not inhibited by warfarin. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=101674 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004042 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004042 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=101674 DBL|UNIGENE:Hs.101674 |OMIM:300003 |SNP:416 ENZ|EC:3.1.6.- MAP|Xp22.3 HG|species == Human; gene == ARSD; score == 643; expect == 0.0; MEOW:HUgn0000414 (58%) |species == Human; gene == LOC347527; score == 642; expect == 0.0; MEOW:HUgn0347527 (60%) |species == Human; gene == ARSE; score == 622; expect == 2e-178; MEOW:HUgn0000415 (59%) |species == Human; gene == STS; score == 540; expect == 7e-154; MEOW:HUgn0000412 (48%) |species == rat; score == 533; expect == 1e-151; MEOW:ref|NP_036793.1| (51%) |species == rat; score == 485; expect == 4e-137; MEOW:ref|XP_227066.2| (45%) |species == Mouse; gene == Sts; score == 475; expect == 4e-134; MEOW:MGgn0011369 (50%) |species == Worm; gene == D1014.1; score == 145; expect == 5.6e-35; MEOW:CEgn0007296 (47%) } # EOR GENR { RETE|ID 1 HUgn0000417 CHR 1 11 DID 1 LocusLink:417 MAP 1 11p15 NAM 1 ADP-ribosyltransferase 1 ORG 1 Homo sapiens SYM 1 ART1 ID|HUgn0000417 DID|LocusLink:417 ORG|Homo sapiens RSQ|REFSEQ:NM_004314 RPA|REFPROT:NP_004305 DBA|XM:NM_004314 |NA:S74683 |NA:none PAC|XP:NP_004305 SYM|ART1 NAM|ADP-ribosyltransferase 1 SYN|RT6 |ART2 FNC|ADP-ribosyltransferase 1 |protein amino acid ADP-ribosylation ; GO:0006471 REAB|ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. |Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered |with by a variety of bacterial toxins including cholera, pertussis, and heat-labile |enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic |N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol |(GPI)-anchored proteins. This gene was previously designated ART2 CHR|11 PRD|ADP-ribosyltransferase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=382188 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=417[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5302695 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004314 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004314 DBL|UNIGENE:Hs.382188 |OMIM:601625 |SNP:417 MAP|11p15 ENZ|NAD ADP-ribosyltransferase activity ; GO:0003950 |NAD(P)-arginine ADP-ribosyltransferase activity ; GO:0003956 |transferase activity, transferring glycosyl groups ; GO:0016757 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Art1; score == 472; expect == 1e-133; MEOW:MGgn0000524 (81%) |species == rat; score == 459; expect == 7e-130; MEOW:ref|XP_218975.1| (80%) |species == Human; gene == ART5; score == 163; expect == 1.2e-40; MEOW:HUgn0116969 (39%) |species == Human; gene == DO; score == 142; expect == 3.1e-34; MEOW:HUgn0000420 (36%) |species == chimp; score == 142; expect == 3.1e-34; MEOW:sp|Q95NE0|NAR4_PANTR (36%) } # EOR GENR { RETE|ID 1 HUgn0000418 CHR 1 11 DID 1 LocusLink:418 MAP 1 11q13 NAM 1 ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) ORG 1 Homo sapiens SYM 1 ART2P ID|HUgn0000418 DID|LocusLink:418 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X65050 SYM|ART2P NAM|ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) SYN|RT6 |ART1P CHR|11 PRD|RT6 antigen (rat) homolog MAP|11q13 DBL|SNP:418 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:139097 } # EOR GENR { RETE|ID 1 HUgn0000419 CHR 1 4 DID 1 LocusLink:419 MAP 1 4p15.1-p14 NAM 1 ADP-ribosyltransferase 3 ORG 1 Homo sapiens SYM 1 ART3 ID|HUgn0000419 DID|LocusLink:419 ORG|Homo sapiens RSQ|REFSEQ:NM_001179 RPA|REFPROT:NP_001170 DBA|XM:NM_001179 |NA:X95827 |NA:BC008397 |NA:BC017913 |NA:U47054 |NA:none PAC|XP:NP_001170 SYM|ART3 NAM|ADP-ribosyltransferase 3 FNC|ADP-ribosyltransferase 3 |protein amino acid ADP-ribosylation ; GO:0006471 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24976 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=419[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835682 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001179 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001179 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=24976 DBL|UNIGENE:Hs.24976 |OMIM:603086 |SNP:419 MAP|4p15.1-p14 ENZ|NAD ADP-ribosyltransferase activity ; GO:0003950 |NAD(P)-arginine ADP-ribosyltransferase activity ; GO:0003956 |transferase activity, transferring glycosyl groups ; GO:0016757 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 342; expect == 1.3e-94; MEOW:ref|XP_223235.2| (64%) |species == Mouse; gene == Art5; score == 157; expect == 7.9e-39; MEOW:MGgn0000529 (38%) |species == Human; gene == ART5; score == 152; expect == 1.6e-37; MEOW:HUgn0116969 (40%) } # EOR GENR { RETE|ID 1 HUgn0000420 CHR 1 12 DID 1 LocusLink:420 MAP 1 12q13.2-q13.3 NAM 1 Dombrock blood group ORG 1 Homo sapiens SYM 1 DO ID|HUgn0000420 DID|LocusLink:420 ORG|Homo sapiens RSQ|REFSEQ:NM_021071 RPA|REFPROT:NP_066549 DBA|XM:NM_021071 |NA:X95826 |NA:AF290204 |NA:none PAC|XP:NP_066549 SYM|DO NAM|Dombrock blood group SYN|ART4 |DOK1 FNC|Dombrock blood group |protein amino acid ADP-ribosylation ; GO:0006471 |arginine metabolism ; GO:0006525 CHR|12 PRD|ADP-ribosyltransferase 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512584 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=420[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118787 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021071 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021071 DBL|UNIGENE:Hs.512584 |OMIM:110600 |SNP:420 MAP|12q13.2-q13.3 PHP|Blood group, Dombrock CEL|membrane ; GO:0016020 ENZ|NAD(P)-arginine ADP-ribosyltransferase activity ; GO:0003956 |transferase activity, transferring glycosyl groups ; GO:0016757 HG|species == chimp; score == 606; expect == 1e-175; MEOW:sp|Q95NE0|NAR4_PANTR (99%) |species == Mouse; gene == Art4; score == 362; expect == 1e-100; MEOW:MGgn0000528 (63%) |species == rat; score == 358; expect == 2.1e-99; MEOW:ref|XP_232495.2| (64%) |species == Human; gene == ART1; score == 142; expect == 3.1e-34; MEOW:HUgn0000417 (36%) } # EOR GENR { RETE|ID 1 HUgn0000421 CHR 1 22 DID 1 LocusLink:421 MAP 1 22q11.21 NAM 1 armadillo repeat gene deletes in velocardiofacial syndrome ORG 1 Homo sapiens SYM 1 ARVCF ID|HUgn0000421 DID|LocusLink:421 ORG|Homo sapiens RSQ|REFSEQ:NM_001670 RPA|REFPROT:NP_001661 DBA|XM:NM_001670 |NA:U51269 |NA:none PAC|XP:NP_001661 SYM|ARVCF NAM|armadillo repeat gene deletes in velocardiofacial syndrome FNC|armadillo repeat protein |cell adhesion ; GO:0007155 |development ; GO:0007275 REAB|Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member |of the catenin family which play an important role in the formation of adherens |junction complexes, which are thought to facilitate communication between the inside |and outside environments of a cell. ARVCF gene was isolated in the search for the |genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome |(VCFS) a relatively common human disorder with phenotypic features including cleft |palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes |a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 |armadillo repeat sequence in the midregion. Since these sequences can facilitate |protein-protein interactions ARVCF is thought to function in a protein complex. | In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that |it may have a function as a nuclear protein. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326730 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=421[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4096957 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001670 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001670 DBL|UNIGENE:Hs.326730 |OMIM:602269 |SNP:421 MAP|22q11.21 ENZ|structural molecule activity ; GO:0005198 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 |intracellular ; GO:0005622 HG|species == Mouse; gene == Arvcf; score == 1557; expect == 0.0; MEOW:MGgn0000531 (91%) |species == rat; score == 1471; expect == 0.0; MEOW:ref|XP_221276.2| (89%) |species == Human; gene == CTNND1; score == 707; expect == 0.0; MEOW:HUgn0001500 (46%) |species == Mosquito; gene == LOC15653; score == 419; expect == 2e-117; MEOW:AGgn0015653 (42%) |species == Fruitfly; gene == p120ctn; score == 401; expect == 8e-112; MEOW:FBgn0015587 (45%) |species == Worm; gene == jac-1; score == 310; expect == 2.3e-84; MEOW:CEgn0020146 (36%) |species == Zfish; gene == ctnnd2; score == 261; expect == 3.2e-70; MEOW:ZFgn0013428 (57%) } # EOR GENR { RETE|ID 1 HUgn0000422 CHR 1 14 DID 1 LocusLink:422 MAP 1 14q23-q24 NAM 1 arrhythmogenic right ventricular dysplasia 1 ORG 1 Homo sapiens SYM 1 ARVD1 ID|HUgn0000422 DID|LocusLink:422 ORG|Homo sapiens SYM|ARVD1 NAM|arrhythmogenic right ventricular dysplasia 1 SYN|ARVD CHR|14 DBL|OMIM:107970 MAP|14q23-q24 PHP|Arrhythmogenic right ventricular dysplasia-1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:371339 |http://www.geneclinics.org/query?mim=107970 } # EOR GENR { RETE|ID 1 HUgn0000423 CHR 1 1 DID 1 LocusLink:423 MAP 1 1q42-q43 NAM 1 arrhythmogenic right ventricular dysplasia 2 ORG 1 Homo sapiens SYM 1 ARVD2 ID|HUgn0000423 DID|LocusLink:423 ORG|Homo sapiens SYM|ARVD2 NAM|arrhythmogenic right ventricular dysplasia 2 CHR|1 PRD|Arrhythmogenic right ventricular dysplasia-2 (arrhythmogenic right ventricular cardiomyopathy) DBL|OMIM:600996 MAP|1q42-q43 PHP|Arrhythmogenic right ventricular dysplasia-2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625376 |http://www.geneclinics.org/query?mim=600996 } # EOR GENR { RETE|ID 1 HUgn0000424 CHR 1 14 DID 1 LocusLink:424 MAP 1 14q12-q22 NAM 1 arrhythmogenic right ventricular dysplasia 3 ORG 1 Homo sapiens SYM 1 ARVD3 ID|HUgn0000424 DID|LocusLink:424 ORG|Homo sapiens SYM|ARVD3 NAM|arrhythmogenic right ventricular dysplasia 3 SYN|ARVD2 CHR|14 DBL|OMIM:602086 MAP|14q12-q22 PHP|Arrhythmogenic right ventricular dysplasia-3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6407106 |http://www.geneclinics.org/query?mim=602086 } # EOR GENR { RETE|ID 1 HUgn0000425 CHR 1 2 DID 1 LocusLink:425 MAP 1 2q32.1-q32.3 NAM 1 arrhythmogenic right ventricular dysplasia 4 ORG 1 Homo sapiens SYM 1 ARVD4 ID|HUgn0000425 DID|LocusLink:425 ORG|Homo sapiens SYM|ARVD4 NAM|arrhythmogenic right ventricular dysplasia 4 CHR|2 DBL|OMIM:602087 MAP|2q32.1-q32.3 PHP|Arrhythmogenic right ventricular dysplasia-4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6474630 |http://www.geneclinics.org/query?mim=602087 } # EOR GENR { RETE|ID 1 HUgn0000426 CHR 1 6 DID 1 LocusLink:426 MAP 1 6p21.3 NAM 1 ankylosing spondylitis ORG 1 Homo sapiens SYM 1 AS ID|HUgn0000426 DID|LocusLink:426 ORG|Homo sapiens SYM|AS NAM|ankylosing spondylitis SYN|ANS CHR|6 DBL|OMIM:106300 MAP|6p21.3 PHP|Ankylosing spondylitis URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135697 |http://www.geneclinics.org/query?mim=106300 } # EOR GENR { RETE|ID 1 HUgn0000427 CHR 1 8 DID 1 LocusLink:427 MAP 1 8p22-p21.3 NAM 1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 ORG 1 Homo sapiens SYM 1 ASAH1 ID|HUgn0000427 DID|LocusLink:427 ORG|Homo sapiens RSQ|REFSEQ:NM_004315 |REFSEQ:NM_177924 RPA|REFPROT:NP_004306 |REFPROT:NP_808592 DBA|XM:NM_004315 |XM:NM_177924 |NA:AF220175 |NA:AK025211 |NA:AK025732 |NA:AK098299 |NA:BC016481 |NA:BC016828 |NA:BC035453 |NA:BG714023 |NA:U47674 |NA:U70063 |NA:none PAC|XP:NP_004306 |XP:NP_808592 SYM|ASAH1 NAM|N-acylsphingosine amidohydrolase (acid ceramidase) 1 SYN|AC |PHP |ASAH |PHP32 |FLJ21558 |FLJ22079 FNC|N-acylsphingosine amidohydrolase (acid ceramidase) 1 isoform b |N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a |ceramide metabolism ; GO:0006672 |fatty acid metabolism ; GO:0006631 REAB|This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit |and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. |The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine |and fatty acid. Mutations in this gene have been associated with a lysosomal storage |disorder known as Farber disease. Two transcript variants encoding distinct isoforms |have been identified for this gene. CHR|8 PRD|acylsphingosine deacylase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324808 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=427[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6837715 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004315 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004315 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324808 |http://www.geneclinics.org/query?mim=228000 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 DBL|UNIGENE:Hs.324808 |OMIM:228000 |SNP:427 |UWCM:6837715.html ENZ|EC:3.5.1.23 |catalytic activity ; GO:0003824 MAP|8p22-p21.3 PHP|Farber lipogranulomatosis HG|species == rat; score == 671; expect == 0.0; MEOW:ref|NP_445859.1| (83%) |species == Mouse; gene == Asah1; score == 664; expect == 0.0; MEOW:MGgn0000540 (81%) |species == Worm; gene == K11D2.2; score == 318; expect == 3.1e-87; MEOW:CEgn0013797 (39%) |species == Worm; gene == F27E5.1; score == 257; expect == 5.0e-69; MEOW:CEgn0009478 (37%) } # EOR GENR { RETE|ID 1 HUgn0000428 CHR 1 2 DID 1 LocusLink:428 MAP 1 2q31 NAM 1 Bardet-Biedl syndrome 5 ORG 1 Homo sapiens SYM 1 BBS5 ID|HUgn0000428 DID|LocusLink:428 ORG|Homo sapiens SYM|BBS5 NAM|Bardet-Biedl syndrome 5 CHR|2 DBL|OMIM:603650 MAP|2q31 PHP|Bardet-Biedl syndrome 5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836953 |http://www.geneclinics.org/query?mim=603650 } # EOR GENR { RETE|ID 1 HUgn0000429 CHR 1 12 DID 1 LocusLink:429 MAP 1 12q22-q23 NAM 1 achaete-scute complex-like 1 (Drosophila) ORG 1 Homo sapiens SYM 1 ASCL1 ID|HUgn0000429 DID|LocusLink:429 ORG|Homo sapiens RSQ|REFSEQ:NM_004316 RPA|REFPROT:NP_004307 DBA|XM:NM_004316 |NA:BC001638 |NA:BC002341 |NA:BC003134 |NA:BC004425 |NA:BC031299 |NA:L08424 |NA:none PAC|XP:NP_004307 SYM|ASCL1 NAM|achaete-scute complex-like 1 (Drosophila) SYN|ASH1 |HASH1 |MASH1 FNC|achaete-scute complex homolog-like 1 |neurogenesis ; GO:0007399 |regulation of transcription from Pol II promoter ; GO:0006357 |cell differentiation ; GO:0030154 REAB|ACSL1 is a member of the basic helix-loop-helix (BHLH) family of transcription factors. | It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization |with other BHLH proteins is required for efficient DNA binding. ACSL1 plays a role |in the neuronal commitment and differentiation and in the generation of olfactory |and autonomic neurons. The protein is highly expressed in medullary thyroid cancer |and small cell lung cancer and may be a useful marker for these cancers. The presence |of a CAG repeat in the gene suggests it may also play a role in tumor formation. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1619 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=429[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:203985 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004316 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004316 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1619 DBL|UNIGENE:Hs.1619 |OMIM:100790 |SNP:429 MAP|12q22-q23 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 305; expect == 1.4e-83; MEOW:ref|XP_346793.1| (98%) |species == Mouse; gene == Ascl1; score == 299; expect == 9.6e-82; MEOW:MGgn0007407 (96%) |species == Zfish; gene == asha; score == 272; expect == 9.5e-74; MEOW:ZFgn0000206 (75%) } # EOR GENR { RETE|ID 1 HUgn0000430 CHR 1 11 DID 1 LocusLink:430 MAP 1 11p15.5 NAM 1 achaete-scute complex-like 2 (Drosophila) ORG 1 Homo sapiens SYM 1 ASCL2 ID|HUgn0000430 DID|LocusLink:430 ORG|Homo sapiens RSQ|REFSEQ:NM_005170 RPA|REFPROT:NP_005161 DBA|XM:NM_005170 |NA:S82817 |NA:U77629 |NA:BC028140 |NA:BC057801 |NA:none PAC|XP:NP_005161 SYM|ASCL2 NAM|achaete-scute complex-like 2 (Drosophila) SYN|ASH2 |HASH2 |MASH2 FNC|achaete-scute complex homolog-like 2 |peripheral nervous system development ; GO:0007422 |central nervous system development ; GO:0007417 |regulation of transcription, DNA-dependent ; GO:0006355 |cell differentiation ; GO:0030154 REAB|This gene is a member of the basic helix-loop-helix (BHLH) family of transcription |factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization |with other BHLH proteins is required for efficient DNA binding. Involved in the |determination of the neuronal precursors in the peripheral nervous system and the |central nervous system. CHR|11 PRD|mammalian achaete/scute homologue 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=152475 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=430[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220264 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005170 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005170 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=152475 DBL|UNIGENE:Hs.152475 |OMIM:601886 |SNP:430 MAP|11p15.5 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 194; expect == 4.0e-50; MEOW:ref|NP_113691.1| (69%) |species == Mouse; gene == Ascl2; score == 186; expect == 8.5e-48; MEOW:MGgn0007408 (71%) } # EOR GENR { RETE|ID 1 HUgn0000431 CHR 1 6 DID 1 LocusLink:431 MAP 1 6p21.3 NAM 1 atrial septal defect 1 ORG 1 Homo sapiens SYM 1 ASD1 ID|HUgn0000431 DID|LocusLink:431 ORG|Homo sapiens SYM|ASD1 NAM|atrial septal defect 1 SYN|ASD2 CHR|6 DBL|OMIM:108800 MAP|6p21.3 PHP|Atrial septal defect, secundum type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6276019 } # EOR GENR { RETE|ID 1 HUgn0000432 CHR 1 17 DID 1 LocusLink:432 MAP 1 17p13.2 NAM 1 asialoglycoprotein receptor 1 ORG 1 Homo sapiens SYM 1 ASGR1 ID|HUgn0000432 DID|LocusLink:432 ORG|Homo sapiens RSQ|REFSEQ:NM_001671 RPA|REFPROT:NP_001662 DBA|XM:NM_001671 |NA:AB070933 |NA:BC032130 |NA:M10058 |NA:none PAC|XP:NP_001662 SYM|ASGR1 NAM|asialoglycoprotein receptor 1 SYN|ASGPR |Hs.12056 FNC|asialoglycoprotein receptor 1 |receptor mediated endocytosis ; GO:0006898 |heterophilic cell adhesion ; GO:0007157 REAB|This cell surface receptor binds to galactose-terminated glycoproteins. It transports |these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting |organelle where the receptor and ligand dissociates. Then the receptor is recycled |back to the cell surface. CHR|17 PRD|hepatic lectin H1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12056 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=432[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118754 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001671 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001671 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=12056 DBL|UNIGENE:Hs.12056 |OMIM:108360 |SNP:432 MAP|17p13.2 ENZ|asialoglycoprotein receptor activity ; GO:0004873 |sugar binding ; GO:0005529 |receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 443; expect == 7e-125; MEOW:ref|NP_036635.1| (80%) |species == Mouse; gene == Asgr1; score == 428; expect == 1e-120; MEOW:MGgn0000543 (78%) |species == Human; gene == ASGR2; score == 357; expect == 4.6e-99; MEOW:HUgn0000433 (57%) |species == Human; gene == CLECSF13; score == 318; expect == 2.2e-87; MEOW:HUgn0010462 (58%) } # EOR GENR { RETE|ID 1 HUgn0000433 CHR 1 17 DID 1 LocusLink:433 MAP 1 17p NAM 1 asialoglycoprotein receptor 2 ORG 1 Homo sapiens SYM 1 ASGR2 ID|HUgn0000433 DID|LocusLink:433 ORG|Homo sapiens RSQ|REFSEQ:NM_001181 |REFSEQ:NM_080912 |REFSEQ:NM_080913 |REFSEQ:NM_080914 RPA|REFPROT:NP_001172 |REFPROT:NP_550434 |REFPROT:NP_550435 |REFPROT:NP_550436 DBA|XM:NM_001181 |XM:NM_080912 |XM:NM_080913 |XM:NM_080914 |NA:AF529374 |NA:BC017251 |NA:M11025 |NA:U97197 |NA:X55283 |NA:X55284 |NA:none PAC|XP:NP_001172 |XP:NP_550434 |XP:NP_550435 |XP:NP_550436 SYM|ASGR2 NAM|asialoglycoprotein receptor 2 SYN|L-H2 |ASGP-R |Hs.1259 FNC|asialoglycoprotein receptor 2 isoform a |asialoglycoprotein receptor 2 isoform b |asialoglycoprotein receptor 2 isoform c |endocytosis ; GO:0006897 |cell surface receptor linked signal transduction ; GO:0007166 |biological_process unknown ; GO:0000004 |heterophilic cell adhesion ; GO:0007157 REAB|This cell surface receptor binds to galactose-terminated glycoproteins. It transports |these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting |organelle where the receptor and ligand dissociates. Then the receptor is recycled |back to the cell surface. There are four alternatively spliced transcript variants |of this gene. This gene has multiple polyadenylation sites. CHR|17 PRD|hepatic lectin H2 |asialoglycoprotein receptor H2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1259 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=433[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118755 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080912 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080912 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1259 DBL|UNIGENE:Hs.1259 |OMIM:108361 |SNP:433 MAP|17p ENZ|asialoglycoprotein receptor activity ; GO:0004873 |sugar binding ; GO:0005529 |receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Asgr2; score == 385; expect == 1e-107; MEOW:MGgn0000544 (64%) |species == rat; score == 379; expect == 2e-105; MEOW:ref|NP_058885.1| (62%) |species == Human; gene == ASGR1; score == 357; expect == 4.6e-99; MEOW:HUgn0000432 (57%) |species == rat; score == 327; expect == 6.8e-90; MEOW:ref|NP_036635.1| (54%) |species == Mouse; gene == Asgr1; score == 321; expect == 2.4e-88; MEOW:MGgn0000543 (52%) |species == Human; gene == CLECSF13; score == 286; expect == 1.3e-77; MEOW:HUgn0010462 (50%) } # EOR GENR { RETE|ID 1 HUgn0000434 CHR 1 20 DID 1 LocusLink:434 MAP 1 20q11.2-q12 NAM 1 agouti signaling protein, nonagouti homolog (mouse) ORG 1 Homo sapiens SYM 1 ASIP ID|HUgn0000434 DID|LocusLink:434 ORG|Homo sapiens RSQ|REFSEQ:NM_001672 RPA|REFPROT:NP_001663 DBA|XM:NM_001672 |NA:L37019 |NA:U12775 |NA:none PAC|XP:NP_001663 SYM|ASIP NAM|agouti signaling protein, nonagouti homolog (mouse) SYN|ASP |AGSW |AGTI |AGTIL FNC|agouti signaling protein precursor |energy pathways ; GO:0006091 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|In mice, the agouti gene encodes a paracrine signaling molecule that causes hair |follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the |black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression |of the mouse gene include adult-onset obesity, increased tumor susceptibility, and |premature infertility. This gene is highly similar to the mouse gene and encodes |a secreted protein that may (1) affect the quality of hair pigmentation, (2) act |as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play |a role in neuroendocrine aspects of melanocortin action, and (4) have a functional |role in regulating lipid metabolism in adipocytes. CHR|20 PRD|agouti switch protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=361642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=434[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392697 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001672 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001672 DBL|UNIGENE:Hs.361642 |OMIM:600201 |SNP:434 MAP|20q11.2-q12 ENZ|receptor binding ; GO:0005102 CEL|extracellular space ; GO:0005615 } # EOR GENR { RETE|ID 1 HUgn0000435 CHR 1 7 DID 1 LocusLink:435 MAP 1 7cen-q11.2 NAM 1 argininosuccinate lyase ORG 1 Homo sapiens SYM 1 ASL ID|HUgn0000435 DID|LocusLink:435 ORG|Homo sapiens RSQ|REFSEQ:NM_000048 RPA|REFPROT:NP_000039 DBA|XM:NM_000048 |XM:NM_000048 |NA:BC008195 |NA:BC033146 |NA:J03058 |NA:M14218 |NA:M57638 |NA:Y00753 |NA:none PAC|XP:NP_000039 |XP:NP_000039 SYM|ASL NAM|argininosuccinate lyase FNC|argininosuccinate lyase |urea cycle ; GO:0000050 |arginine catabolism ; GO:0006527 |arginine biosynthesis ; GO:0006526 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442047 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=435[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119703 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000048 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000048 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=442047 |http://www.geneclinics.org/query?mim=207900 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.442047 |OMIM:207900 |SNP:435 ENZ|EC:4.3.2.1 |argininosuccinate lyase activity ; GO:0004056 |lyase activity ; GO:0016829 MAP|7cen-q11.2 PHP|Argininosuccinicaciduria CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Asl; score == 855; expect == 0.0; MEOW:MGgn0000548 (94%) |species == rat; score == 815; expect == 0.0; MEOW:ref|NP_067588.2| (90%) |species == Yeast; gene == ARG4; score == 496; expect == 1e-140; MEOW:SGgn0001060 (54%) |species == Mosquito; score == 490; expect == 1e-138; MEOW:AGgn0006856 (52%) |species == Fruitfly; gene == CG9510; score == 468; expect == 2e-132; MEOW:FBgn0032076 (51%) |species == ecoli; score == 364; expect == 8e-102; MEOW:ref|NP_418395.1| (45%) |species == Weed; gene == At5g10920; score == 355; expect == 3.9e-98; MEOW:ATgn0023680 (42%) |species == rice; score == 354; expect == 1.4e-97; MEOW:gnl|TIGR|8360.m01766 (42%) } # EOR GENR { RETE|ID 1 HUgn0000436 CHR 1 22 DID 1 LocusLink:436 MAP 1 22q11.23 NAM 1 argininosuccinate lyase-like ORG 1 Homo sapiens SYM 1 ASLL ID|HUgn0000436 DID|LocusLink:436 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AP000346 SYM|ASLL NAM|argininosuccinate lyase-like CHR|22 MAP|22q11.23 DBL|SNP:436 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119704 } # EOR GENR { RETE|ID 1 HUgn0000437 CHR 1 4 DID 1 LocusLink:437 MAP 1 4q28-q31 NAM 1 anterior segment mesenchymal dysgenesis ORG 1 Homo sapiens SYM 1 ASMD ID|HUgn0000437 DID|LocusLink:437 ORG|Homo sapiens SYM|ASMD NAM|anterior segment mesenchymal dysgenesis SYN|ASOD CHR|4 DBL|OMIM:107250 MAP|4q28-q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119705 } # EOR GENR { RETE|ID 1 HUgn0000438 CHR 1 X DID 1 LocusLink:438 MAP 1 Xp22.3 or Yp11.3 NAM 1 acetylserotonin O-methyltransferase ORG 1 Homo sapiens SYM 1 ASMT ID|HUgn0000438 DID|LocusLink:438 ORG|Homo sapiens RSQ|REFSEQ:NM_004043 RPA|REFPROT:NP_004034 DBA|XM:NM_004043 |XM:NM_004043 |NA:U11098 |NA:BC001620 |NA:M83779 |NA:U11090 |NA:U11091 |NA:none PAC|XP:NP_004034 |XP:NP_004034 SYM|ASMT NAM|acetylserotonin O-methyltransferase SYN|ASMTY |HIOMT |HIOMTY FNC|acetylserotonin O-methyltransferase |protein biosynthesis ; GO:0006412 |rhythmic behavior ; GO:0007622 |melatonin biosynthesis ; GO:0030187 CHR|X |Y PRD|acetylserotonin N-methyltransferase |Acetylserotonin methyltransferase (Y chromosome) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169609 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=438[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136259 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004043 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004043 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169609 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 DBL|UNIGENE:Hs.169609 |OMIM:300015 |OMIM:402500 |SNP:438 |IXDB:520401 ENZ|EC:2.1.1.4 |neuropeptide hormone activity ; GO:0005184 |transferase activity ; GO:0016740 |acetylserotonin O-methyltransferase activity ; GO:0017096 MAP|Xp22.3 or Yp11.3 HG|species == rat; score == 303; expect == 1.3e-82; MEOW:ref|NP_653360.1| (46%) |species == Human; gene == ASMTL; score == 233; expect == 2.5e-61; MEOW:HUgn0008623 (39%) } # EOR GENR { RETE|ID 1 HUgn0000439 CHR 1 19 DID 1 LocusLink:439 MAP 1 19q13.3 NAM 1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) ORG 1 Homo sapiens SYM 1 ASNA1 ID|HUgn0000439 DID|LocusLink:439 ORG|Homo sapiens RSQ|REFSEQ:NM_004317 RPA|REFPROT:NP_004308 DBA|XM:NM_004317 |NA:AF047469 |NA:BC002651 |NA:U60276 |NA:none PAC|XP:NP_004308 SYM|ASNA1 NAM|arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) SYN|ARSA1 |ARSA-I FNC|arsA arsenite transporter, ATP-binding, homolog 1 |anion transport ; GO:0006820 |transport ; GO:0006810 |response to arsenate ; GO:0046685 REAB|ASNA1 is the human homolog of the bacterial arsA gene. In E. coli, ArsA ATPase is |the catalytic component of a multisubunit oxyanion pump that is responsible for |resistance to arsenicals and antimonials.[supplied by OMIM] CHR|19 PRD|arsA (bacterial) arsenite transporter, ATP-binding, homolog 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=165439 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=439[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6279008 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004317 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004317 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=165439 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.165439 |OMIM:601913 |SNP:439 MAP|19q13.3 ENZ|arsenite transporter activity ; GO:0015105 |ATP binding ; GO:0005524 |transporter activity ; GO:0005215 |arsenite-transporting ATPase activity ; GO:0015446 |hydrolase activity ; GO:0016787 CEL|nucleolus ; GO:0005730 |membrane ; GO:0016020 |soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Asna1; score == 629; expect == 0.0; MEOW:MGgn0015018 (99%) |species == rat; score == 629; expect == 0.0; MEOW:ref|XP_213848.2| (99%) |species == Mosquito; gene == LOC18739; score == 448; expect == 1e-126; MEOW:AGgn0018739 (69%) |species == Mosquito; score == 406; expect == 7e-114; MEOW:AGgn0029267 (69%) |species == Worm; gene == ZK637.5; score == 337; expect == 4.9e-93; MEOW:CEgn0021078 (54%) |species == Weed; gene == At1g01910; score == 327; expect == 7.4e-90; MEOW:ATgn0002451 (54%) |species == Yeast; gene == ARR4; score == 270; expect == 3.0e-73; MEOW:SGgn0002258 (46%) } # EOR GENR { RETE|ID 1 HUgn0000440 CHR 1 7 DID 1 LocusLink:440 MAP 1 7q21.3 NAM 1 asparagine synthetase ORG 1 Homo sapiens SYM 1 ASNS ID|HUgn0000440 DID|LocusLink:440 ORG|Homo sapiens RSQ|REFSEQ:NM_001673 |REFSEQ:NM_133436 |REFSEQ:NM_183356 RPA|REFPROT:NP_001664 |REFPROT:NP_597680 |REFPROT:NP_899199 DBA|XM:NM_001673 |XM:NM_133436 |XM:NM_001673 |XM:NM_133436 |NA:L35946 |NA:M27054 |NA:AK000379 |NA:BC008723 |NA:BC014621 |NA:BC030024 |NA:BG718826 |NA:BT007113 |NA:M15798 |NA:M27396 |NA:none PAC|XP:NP_001664 |XP:NP_597680 |XP:NP_001664 |XP:NP_597680 SYM|ASNS NAM|asparagine synthetase SYN|TS11 FNC|asparagine synthetase |metabolism ; GO:0008152 |asparagine biosynthesis ; GO:0006529 |glutamine metabolism ; GO:0006541 REAB|The protein encoded by this gene is involved in the synthesis of asparagine. This |gene complements a mutation in the temperature-sensitive hamster mutant ts11, which |blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. |There are three alternatively spliced transcript variants encoding the same protein |described for this gene. CHR|7 PRD|TS11 cell cycle control protein |glutamine-dependent asparagine synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446546 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=440[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119706 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_133436 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_133436 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446546 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.446546 |OMIM:108370 |SNP:440 ENZ|EC:6.3.5.4 |asparagine synthase (glutamine-hydrolyzing) activity ; GO:0004066 |ligase activity ; GO:0016874 MAP|7q21.3 CEL|soluble fraction ; GO:0005625 HG|species == Mouse; gene == Asns; score == 1039; expect == 0.0; MEOW:MGgn0000549 (93%) |species == rat; score == 1035; expect == 0.0; MEOW:ref|NP_037211.1| (93%) |species == Human; gene == LOC375662; score == 368; expect == 3e-102; MEOW:HUgn0375662 (78%) |species == Weed; gene == At5g65010; score == 320; expect == 1.4e-87; MEOW:ATgn0024784 (40%) |species == Weed; gene == At5g10240; score == 312; expect == 3.7e-85; MEOW:ATgn0022865 (40%) |species == Weed; gene == At3g47340; score == 311; expect == 6.5e-85; MEOW:ATgn0014274 (36%) |species == rice; score == 307; expect == 2.6e-83; MEOW:gnl|TIGR|8360.m01655 (39%) |species == ecoli; score == 301; expect == 8.2e-82; MEOW:ref|NP_415200.1| (34%) |species == Worm; gene == nrs-2; score == 295; expect == 3.4e-80; MEOW:CEgn0009275 (36%) |species == Mosquito; score == 278; expect == 4.5e-75; MEOW:AGgn0005616 (36%) |species == Worm; gene == M02D8.4a; score == 271; expect == 9.4e-73; MEOW:CEgn0032332 (36%) |species == Yeast; gene == ASN2; score == 265; expect == 6.8e-71; MEOW:SGgn0003356 (36%) |species == rice; score == 265; expect == 6.2e-71; MEOW:gnl|TIGR|8354.m01461 (39%) |species == Yeast; gene == ASN1; score == 260; expect == 1.3e-69; MEOW:SGgn0006349 (36%) |species == Mosquito; score == 257; expect == 8.7e-69; MEOW:AGgn0025823 (46%) } # EOR GENR { RETE|ID 1 HUgn0000441 CHR 1 8 DID 1 LocusLink:441 MAP 1 8pter-q24 NAM 1 asparagine synthetase-like 1 ORG 1 Homo sapiens SYM 1 ASNSL1 ID|HUgn0000441 DID|LocusLink:441 ORG|Homo sapiens SYM|ASNSL1 NAM|asparagine synthetase-like 1 CHR|8 MAP|8pter-q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119707 } # EOR GENR { RETE|ID 1 HUgn0000442 CHR 1 21 DID 1 LocusLink:442 MAP 1 21pter-q21 NAM 1 asparagine synthetase-like 2 ORG 1 Homo sapiens SYM 1 ASNSL2 ID|HUgn0000442 DID|LocusLink:442 ORG|Homo sapiens SYM|ASNSL2 NAM|asparagine synthetase-like 2 CHR|21 MAP|21pter-q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119708 } # EOR GENR { RETE|ID 1 HUgn0000443 CHR 1 17 DID 1 LocusLink:443 MAP 1 17pter-p13 NAM 1 aspartoacylase (aminoacylase 2, Canavan disease) ORG 1 Homo sapiens SYM 1 ASPA ID|HUgn0000443 DID|LocusLink:443 ORG|Homo sapiens RSQ|REFSEQ:NM_000049 RPA|REFPROT:NP_000040 DBA|XM:NM_000049 |NA:S74727 |NA:BC010941 |NA:BC029128 |NA:S67156 |NA:none PAC|XP:NP_000040 SYM|ASPA NAM|aspartoacylase (aminoacylase 2, Canavan disease) SYN|ASP |ACY2 FNC|aspartoacylase |aspartate catabolism ; GO:0006533 REAB|The ASPA gene product, aspartoacylase, catalyzes the conversion of N-acetyl_L-aspartic |acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis |by aspartoacylase is thought to help maintain white matter. The ASPA gene product |is an NAA scavenger in other tissues. Defects in ASPA cause Canavan disease. CHR|17 PRD|aminoacylase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32042 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=443[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:231014 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000049 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000049 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=32042 |http://www.geneclinics.org/query?mim=271900 |http://www.geneclinics.org/query?mim=608034 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.32042 |OMIM:608034 |SNP:443 |UWCM:231014.html ENZ|EC:3.5.1.15 |aminoacylase activity ; GO:0004046 |hydrolase activity ; GO:0016787 |aspartoacylase activity ; GO:0019807 MAP|17pter-p13 PHP|Canavan disease HG|species == Mouse; gene == Aspa; score == 548; expect == 1e-156; MEOW:MGgn0000115 (86%) |species == rat; score == 542; expect == 8e-155; MEOW:ref|NP_077375.1| (86%) |species == Human; gene == ACY-3; score == 268; expect == 2.9e-72; MEOW:HUgn0091703 (44%) } # EOR GENR { RETE|ID 1 HUgn0000444 CHR 1 8 DID 1 LocusLink:444 MAP 1 8q12.1 NAM 1 aspartate beta-hydroxylase ORG 1 Homo sapiens SYM 1 ASPH ID|HUgn0000444 DID|LocusLink:444 ORG|Homo sapiens RSQ|REFSEQ:NM_004318 |REFSEQ:NM_020164 |REFSEQ:NM_032466 |REFSEQ:NM_032467 |REFSEQ:NM_032468 RPA|REFPROT:NP_004309 |REFPROT:NP_064549 |REFPROT:NP_115855 |REFPROT:NP_115856 |REFPROT:NP_115857 DBA|XM:NM_004318 |XM:NM_020164 |XM:NM_032466 |XM:NM_032467 |XM:NM_032468 |NA:AF184241 |NA:AF224468 |NA:AF224469 |NA:AF289489 |NA:AF306765 |NA:BC015518 |NA:BC025236 |NA:S83325 |NA:U03109 |NA:none PAC|XP:NP_004309 |XP:NP_064549 |XP:NP_115855 |XP:NP_115856 |XP:NP_115857 SYM|ASPH NAM|aspartate beta-hydroxylase SYN|BAH |HAAH |JCTN |CASQ2BP1 FNC|aspartate beta-hydroxylase isoform a |aspartate beta-hydroxylase isoform b |aspartate beta-hydroxylase isoform c |aspartate beta-hydroxylase isoform d |aspartate beta-hydroxylase isoform e |muscle contraction ; GO:0006936 REAB|This gene is thought to play an important role in calcium homeostasis. Alternative |splicing of this gene results in five transcript variants which vary in protein |translation, the coding of catalytic domains, and tissue expression. Variation among |these transcripts impacts their functions which involve roles in the calcium storage |and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation |of aspartic acid and asparagine in epidermal growth factor-like domains of various |proteins. CHR|8 PRD|humbug |junctate |junctin isoform 1 |peptide-aspartate beta-dioxygenase |aspartyl/asparaginyl-beta-hydroxylase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=413557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=444[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:454147 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032466 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032466 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=413557 DBL|UNIGENE:Hs.413557 |OMIM:600582 |SNP:444 ENZ|EC:1.14.11.16 |peptide-aspartate beta-dioxygenase activity ; GO:0004597 |structural constituent of muscle ; GO:0008307 |structural molecule activity ; GO:0005198 |electron transporter activity ; GO:0005489 |calcium ion binding ; GO:0005509 MAP|8q12.1 CEL|endoplasmic reticulum membrane ; GO:0005789 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Asph; score == 1078; expect == 0.0; MEOW:MGgn0019541 (78%) |species == rat; score == 835; expect == 0.0; MEOW:ref|XP_232675.2| (94%) |species == Mosquito; score == 373; expect == 2e-103; MEOW:AGgn0004480 (43%) } # EOR GENR { RETE|ID 1 HUgn0000445 CHR 1 9 DID 1 LocusLink:445 MAP 1 9q34.1 NAM 1 argininosuccinate synthetase ORG 1 Homo sapiens SYM 1 ASS ID|HUgn0000445 DID|LocusLink:445 ORG|Homo sapiens RSQ|REFSEQ:NM_000050 |REFSEQ:NM_054012 RPA|REFPROT:NP_000041 |REFPROT:NP_446464 DBA|XM:NM_000050 |XM:NM_054012 |NA:L00081 |NA:L00084 |NA:M34903 |NA:AK027126 |NA:BC009243 |NA:BC013224 |NA:BC021676 |NA:X01630 |NA:Z36810 |NA:none PAC|XP:NP_000041 |XP:NP_446464 SYM|ASS NAM|argininosuccinate synthetase SYN|ASS1 |CTLN1 FNC|argininosuccinate synthetase |urea cycle ; GO:0000050 |arginine biosynthesis ; GO:0006526 REAB|The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic |pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes |scattered across the human genome, among which the one located on chromosome 9 appears |to be the only functional gene for argininosuccinate synthetase. Mutations in the |chromosome 9 copy of ASS cause citrullinemia. Two alternatively spliced transcript |variants of this gene, which differ in their 5' UTR regions, and thus encode the |same protein, have been reported. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=160786 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=445[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119010 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_054012 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_054012 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=160786 |http://www.geneclinics.org/query?mim=603470 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.160786 |OMIM:603470 |SNP:445 |UWCM:119010.html ENZ|EC:6.3.4.5 |ATP binding ; GO:0005524 |argininosuccinate synthase activity ; GO:0004055 |ligase activity ; GO:0016874 MAP|9q34.1 PHP|Citrullinemia CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 786; expect == 0.0; MEOW:ref|NP_037289.1| (96%) |species == Mouse; gene == Ass1; score == 781; expect == 0.0; MEOW:MGgn0000555 (96%) |species == Human; gene == LOC341230; score == 704; expect == 0.0; MEOW:HUgn0341230 (86%) |species == Human; gene == LOC340274; score == 661; expect == 0.0; MEOW:HUgn0340274 (83%) |species == Human; gene == LOC339845; score == 659; expect == 0.0; MEOW:HUgn0339845 (81%) |species == Human; gene == LOC283343; score == 569; expect == 9e-163; MEOW:HUgn0283343 (81%) |species == Mosquito; score == 479; expect == 7e-136; MEOW:AGgn0018209 (57%) |species == Fruitfly; gene == CG1315; score == 451; expect == 3e-127; MEOW:FBgn0026565 (54%) |species == Yeast; gene == ARG1; score == 413; expect == 8e-116; MEOW:SGgn0005419 (50%) |species == Weed; gene == At4g24830; score == 344; expect == 7.7e-95; MEOW:ATgn0019651 (45%) |species == rice; score == 344; expect == 7.2e-95; MEOW:gnl|TIGR|8359.m01243 (46%) |species == ecoli; score == 146; expect == 3.4e-35; MEOW:ref|NP_417640.1| (27%) } # EOR GENR { RETE|ID 1 HUgn0000446 CHR 1 6 DID 1 LocusLink:446 MAP 1 6p22.1 NAM 1 argininosuccinate synthetase pseudogene 1 ORG 1 Homo sapiens SYM 1 ASSP1 ID|HUgn0000446 DID|LocusLink:446 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL160400 |NA:K01845 SYM|ASSP1 NAM|argininosuccinate synthetase pseudogene 1 CHR|6 MAP|6p22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119011 } # EOR GENR { RETE|ID 1 HUgn0000447 CHR 1 2 DID 1 LocusLink:447 MAP 1 2p22.1 NAM 1 argininosuccinate synthetase pseudogene 2 ORG 1 Homo sapiens SYM 1 ASSP2 ID|HUgn0000447 DID|LocusLink:447 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC092833 SYM|ASSP2 NAM|argininosuccinate synthetase pseudogene 2 CHR|2 MAP|2p22.1 DBL|SNP:447 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119017 } # EOR GENR { RETE|ID 1 HUgn0000448 CHR 1 9 DID 1 LocusLink:448 MAP 1 9q11-q22 NAM 1 argininosuccinate synthetase pseudogene 3 ORG 1 Homo sapiens SYM 1 ASSP3 ID|HUgn0000448 DID|LocusLink:448 CLA|Pseudogene ORG|Homo sapiens DBA|NA:K01846 SYM|ASSP3 NAM|argininosuccinate synthetase pseudogene 3 CHR|9 MAP|9q11-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119709 } # EOR GENR { RETE|ID 1 HUgn0000449 CHR 1 X DID 1 LocusLink:449 MAP 1 Xpter-p22 NAM 1 argininosuccinate synthetase pseudogene 4 ORG 1 Homo sapiens SYM 1 ASSP4 ID|HUgn0000449 DID|LocusLink:449 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC004616 SYM|ASSP4 NAM|argininosuccinate synthetase pseudogene 4 CHR|X MAP|Xpter-p22 DBL|SNP:449 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119018 } # EOR GENR { RETE|ID 1 HUgn0000450 CHR 1 X DID 1 LocusLink:450 MAP 1 Xq22-q26 NAM 1 argininosuccinate synthetase pseudogene 5 ORG 1 Homo sapiens SYM 1 ASSP5 ID|HUgn0000450 DID|LocusLink:450 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC005000 SYM|ASSP5 NAM|argininosuccinate synthetase pseudogene 5 CHR|X MAP|Xq22-q26 DBL|SNP:450 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119019 } # EOR GENR { RETE|ID 1 HUgn0000451 CHR 1 Y DID 1 LocusLink:451 MAP 1 Yq11.21 NAM 1 argininosuccinate synthetase pseudogene 6 ORG 1 Homo sapiens SYM 1 ASSP6 ID|HUgn0000451 DID|LocusLink:451 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC012502 SYM|ASSP6 NAM|argininosuccinate synthetase pseudogene 6 CHR|Y MAP|Yq11.21 DBL|SNP:451 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119020 } # EOR GENR { RETE|ID 1 HUgn0000452 CHR 1 3 DID 1 LocusLink:452 MAP 1 3q12-qter NAM 1 argininosuccinate synthetase pseudogene 7 ORG 1 Homo sapiens SYM 1 ASSP7 ID|HUgn0000452 DID|LocusLink:452 CLA|Pseudogene ORG|Homo sapiens DBA|NA:K01847 |NA:K01848 |NA:K01849 SYM|ASSP7 NAM|argininosuccinate synthetase pseudogene 7 CHR|3 MAP|3q12-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119021 } # EOR GENR { RETE|ID 1 HUgn0000453 CHR 1 4 DID 1 LocusLink:453 MAP 1 4q31.22 NAM 1 argininosuccinate synthetase pseudogene 8 ORG 1 Homo sapiens SYM 1 ASSP8 ID|HUgn0000453 DID|LocusLink:453 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC093881 SYM|ASSP8 NAM|argininosuccinate synthetase pseudogene 8 CHR|4 MAP|4q31.22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119022 } # EOR GENR { RETE|ID 1 HUgn0000454 CHR 1 5 DID 1 LocusLink:454 MAP 1 5q11.2 NAM 1 argininosuccinate synthetase pseudogene 9 ORG 1 Homo sapiens SYM 1 ASSP9 ID|HUgn0000454 DID|LocusLink:454 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC025175 SYM|ASSP9 NAM|argininosuccinate synthetase pseudogene 9 CHR|5 MAP|5q11.2 DBL|SNP:454 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119023 } # EOR GENR { RETE|ID 1 HUgn0000455 CHR 1 5 DID 1 LocusLink:455 MAP 1 5q32 NAM 1 argininosuccinate synthetase pseudogene 10 ORG 1 Homo sapiens SYM 1 ASSP10 ID|HUgn0000455 DID|LocusLink:455 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC132803 SYM|ASSP10 NAM|argininosuccinate synthetase pseudogene 10 CHR|5 MAP|5q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119012 } # EOR GENR { RETE|ID 1 HUgn0000456 CHR 1 7 DID 1 LocusLink:456 MAP 1 7p15.3 NAM 1 argininosuccinate synthetase pseudogene 11 ORG 1 Homo sapiens SYM 1 ASSP11 ID|HUgn0000456 DID|LocusLink:456 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC078791 SYM|ASSP11 NAM|argininosuccinate synthetase pseudogene 11 CHR|7 PRD|TCAG_1641141 MAP|7p15.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119013 } # EOR GENR { RETE|ID 1 HUgn0000457 CHR 1 9 DID 1 LocusLink:457 MAP 1 9p21.1 NAM 1 argininosuccinate synthetase pseudogene 12 ORG 1 Homo sapiens SYM 1 ASSP12 ID|HUgn0000457 DID|LocusLink:457 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL353717 SYM|ASSP12 NAM|argininosuccinate synthetase pseudogene 12 CHR|9 MAP|9p21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119014 } # EOR GENR { RETE|ID 1 HUgn0000458 CHR 1 11 DID 1 LocusLink:458 MAP 1 11q22.3 NAM 1 argininosuccinate synthetase pseudogene 13 ORG 1 Homo sapiens SYM 1 ASSP13 ID|HUgn0000458 DID|LocusLink:458 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AP003057 SYM|ASSP13 NAM|argininosuccinate synthetase pseudogene 13 CHR|11 MAP|11q22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119015 } # EOR GENR { RETE|ID 1 HUgn0000459 CHR 1 12 DID 1 LocusLink:459 MAP 1 12p11.21 NAM 1 argininosuccinate synthetase pseudogene 14 ORG 1 Homo sapiens SYM 1 ASSP14 ID|HUgn0000459 DID|LocusLink:459 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC087311 SYM|ASSP14 NAM|argininosuccinate synthetase pseudogene 14 CHR|12 MAP|12p11.21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119016 } # EOR GENR { RETE|ID 1 HUgn0000460 CHR 1 1 DID 1 LocusLink:460 MAP 1 1q25.2 NAM 1 astrotactin ORG 1 Homo sapiens SYM 1 ASTN ID|HUgn0000460 DID|LocusLink:460 ORG|Homo sapiens DBA|XM:XM_045113 |NA:AB006627 |NA:BC015438 |NA:none PAC|XP:XP_045113 SYM|ASTN NAM|astrotactin SYN|ASTN1 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6788 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=460[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3789392 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AB006627 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AB006627 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=6788 DBL|UNIGENE:Hs.6788 |OMIM:600904 |SNP:460 MAP|1q25.2 ENZ|cell adhesion molecule activity ; GO:0005194 FNC|neuronal cell adhesion ; GO:0007158 |cell adhesion ; GO:0007155 |cell migration ; GO:0016477 CEL|integral to membrane ; GO:0016021 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Astn1; score == 1632; expect == 0.0; MEOW:MGgn0000556 (94%) |species == rat; score == 1567; expect == 0.0; MEOW:ref|XP_222785.2| (96%) |species == Human; gene == ASTN2; score == 984; expect == 0.0; MEOW:HUgn0023245 (51%) } # EOR GENR { RETE|ID 1 HUgn0000461 CHR 1 4 DID 1 LocusLink:461 MAP 1 4p16.2 NAM 1 adenovirus/SV40 integration site 1 ORG 1 Homo sapiens SYM 1 ASVS1 ID|HUgn0000461 DID|LocusLink:461 ORG|Homo sapiens SYM|ASVS1 NAM|adenovirus/SV40 integration site 1 CHR|4 MAP|4p16.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128400 } # EOR GENR { RETE|ID 1 HUgn0000462 CHR 1 1 DID 1 LocusLink:462 MAP 1 1q23-q25.1 NAM 1 serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 ORG 1 Homo sapiens SYM 1 SERPINC1 ID|HUgn0000462 DID|LocusLink:462 ORG|Homo sapiens RSQ|REFSEQ:NM_000488 RPA|REFPROT:NP_000479 DBA|XM:NM_000488 |NA:L00190 |NA:M21642 |NA:X68793 |NA:BC022309 |NA:D29832 |NA:none PAC|XP:NP_000479 SYM|SERPINC1 NAM|serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 SYN|AT3 |ATIII FNC|serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 CHR|1 PRD|antithrombin III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75599 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=462[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119024 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000488 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000488 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75599 |http://www.med.ic.ac.uk/dd/ddhc/default.htm DBL|UNIGENE:Hs.75599 |OMIM:107300 |SNP:462 MAP|1q23-q25.1 PHP|Antithrombin III deficiency |Antithrombin III; serpin serine protease that inhibits thrombin and other proteins involved in blood coagulation ENZ|serine protease inhibitor activity ; GO:0004867 HG|species == Mouse; gene == Serpinc1; score == 813; expect == 0.0; MEOW:MGgn0000562 (87%) |species == rat; score == 443; expect == 1e-124; MEOW:ref|XP_222802.2| (86%) |species == Human; gene == SERPINB3; score == 268; expect == 6.2e-72; MEOW:HUgn0006317 (39%) |species == Human; gene == SERPINB4; score == 262; expect == 3.4e-70; MEOW:HUgn0006318 (38%) |species == Human; gene == SERPINB1; score == 259; expect == 2.9e-69; MEOW:HUgn0001992 (39%) |species == Human; gene == SERPINB11; score == 253; expect == 1.6e-67; MEOW:HUgn0089778 (38%) |species == Human; gene == SERPINB6; score == 241; expect == 8.1e-64; MEOW:HUgn0005269 (36%) |species == Human; gene == SERPINB8; score == 235; expect == 5.8e-62; MEOW:HUgn0005271 (38%) |species == Human; gene == SERPINB9; score == 233; expect == 1.7e-61; MEOW:HUgn0005272 (37%) |species == Human; gene == SERPINB10; score == 232; expect == 2.9e-61; MEOW:HUgn0005273 (34%) |species == Human; gene == SERPINB13; score == 229; expect == 2.5e-60; MEOW:HUgn0005275 (35%) |species == Human; gene == SERPINI1; score == 217; expect == 1.1e-56; MEOW:HUgn0005274 (34%) |species == Mosquito; score == 190; expect == 9.2e-49; MEOW:AGgn0015833 (31%) |species == Mosquito; gene == LOC22846; score == 188; expect == 3.5e-48; MEOW:AGgn0022846 (32%) |species == Mosquito; gene == LOC21812; score == 187; expect == 6.0e-48; MEOW:AGgn0021812 (33%) |species == Mosquito; gene == LOC23448; score == 183; expect == 1.5e-46; MEOW:AGgn0023448 (31%) |species == Mosquito; gene == LOC23182; score == 182; expect == 2.5e-46; MEOW:AGgn0023182 (31%) |species == Weed; gene == At1g47710; score == 178; expect == 6.5e-45; MEOW:ATgn0005921 (30%) |species == Fruitfly; gene == Spn4; score == 178; expect == 2.9e-45; MEOW:FBgn0028985 (31%) |species == Fruitfly; gene == Spn6; score == 174; expect == 7.2e-44; MEOW:FBgn0028983 (28%) |species == Fruitfly; gene == CG9460; score == 171; expect == 6.1e-43; MEOW:FBgn0033115 (30%) |species == Weed; gene == At1g64030; score == 168; expect == 6.7e-42; MEOW:ATgn0001526 (30%) |species == Fruitfly; gene == Spn1; score == 164; expect == 5.7e-41; MEOW:FBgn0028988 (32%) |species == Fruitfly; gene == CG6687; score == 158; expect == 3.1e-39; MEOW:FBgn0038299 (28%) |species == rice; score == 158; expect == 1.2e-38; MEOW:gnl|TIGR|8350.m05226 (31%) |species == Fruitfly; gene == Spn2; score == 155; expect == 2.6e-38; MEOW:FBgn0028987 (30%) |species == Weed; gene == At2g25240; score == 154; expect == 1.0e-37; MEOW:ATgn0009085 (29%) |species == Worm; gene == srp-7; score == 154; expect == 6.9e-38; MEOW:CEgn0008892 (30%) |species == rice; score == 154; expect == 2.9e-37; MEOW:gnl|TIGR|8350.m01527 (30%) |species == Worm; gene == srp-6; score == 151; expect == 7.6e-37; MEOW:CEgn0003919 (27%) |species == Fruitfly; gene == Spn3; score == 150; expect == 1.1e-36; MEOW:FBgn0028986 (31%) |species == Fruitfly; gene == Spn5; score == 149; expect == 2.5e-36; MEOW:FBgn0028984 (29%) |species == rice; score == 148; expect == 1.2e-35; MEOW:gnl|TIGR|8358.m01133 (27%) |species == rice; score == 147; expect == 2.1e-35; MEOW:gnl|TIGR|8358.m01135 (25%) |species == rice; score == 147; expect == 3.5e-35; MEOW:gnl|TIGR|8358.m01139 (29%) |species == Fruitfly; gene == Spn43Aa; score == 146; expect == 1.6e-35; MEOW:FBgn0024294 (27%) |species == rice; score == 146; expect == 6.0e-35; MEOW:gnl|TIGR|8360.m03709 (36%) |species == rice; score == 145; expect == 1.0e-34; MEOW:gnl|TIGR|8360.m03706 (35%) |species == Fruitfly; gene == Spn27A; score == 144; expect == 4.7e-35; MEOW:FBgn0028990 (27%) |species == Zfish; gene == hsp47; score == 144; expect == 5.4e-36; MEOW:ZFgn0000260 (23%) |species == Worm; gene == srp-3; score == 132; expect == 2.8e-31; MEOW:CEgn0027694 (28%) } # EOR GENR { RETE|ID 1 HUgn0000463 CHR 1 16 DID 1 LocusLink:463 MAP 1 16q22.3-q23.1 NAM 1 AT-binding transcription factor 1 ORG 1 Homo sapiens SYM 1 ATBF1 ID|HUgn0000463 DID|LocusLink:463 ORG|Homo sapiens RSQ|REFSEQ:NM_006885 RPA|REFPROT:NP_008816 DBA|XM:NM_006885 |NA:BC029653 |NA:D10250 |NA:L32832 |NA:none PAC|XP:NP_008816 SYM|ATBF1 NAM|AT-binding transcription factor 1 FNC|AT-binding transcription factor 1 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|16 PRD|AT motif-binding factor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=108806 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=463[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392090 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006885 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006885 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=108806 DBL|UNIGENE:Hs.108806 |OMIM:104155 |SNP:463 MAP|16q22.3-q23.1 ENZ|RNA polymerase II transcription factor activity, enhancer binding ; GO:0003705 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Atbf1; score == 3766; expect == 0.0; MEOW:MGgn0000563 (90%) |species == rat; score == 2929; expect == 0.0; MEOW:ref|XP_226464.2| (90%) |species == Human; gene == ZNF409; score == 384; expect == 1e-106; MEOW:HUgn0022830 (38%) |species == Fruitfly; gene == zfh2; score == 315; expect == 2.6e-85; MEOW:FBgn0004607 (35%) |species == Mosquito; gene == LOC17381; score == 186; expect == 4.0e-47; MEOW:AGgn0017381 (37%) |species == Worm; gene == ZC123.3; score == 174; expect == 5.0e-43; MEOW:CEgn0020499 (42%) } # EOR GENR { RETE|ID 1 HUgn0000465 CHR 1 12 DID 1 LocusLink:465 MAP 1 12p12.2-p11.21 NAM 1 asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) ORG 1 Homo sapiens SYM 1 ATD ID|HUgn0000465 DID|LocusLink:465 ORG|Homo sapiens SYM|ATD NAM|asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) CHR|12 PRD|asphyxiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) DBL|OMIM:208500 MAP|12p12.2-p11.21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:696353 |http://www.geneclinics.org/query?mim=208500 } # EOR GENR { RETE|ID 1 HUgn0000466 CHR 1 12 DID 1 LocusLink:466 MAP 1 12q13 NAM 1 activating transcription factor 1 ORG 1 Homo sapiens SYM 1 ATF1 ID|HUgn0000466 DID|LocusLink:466 ORG|Homo sapiens RSQ|REFSEQ:NM_005171 RPA|REFPROT:NP_005162 DBA|XM:NM_005171 |NA:X55544 |NA:BC029619 |NA:BG502726 |NA:BG545632 |NA:BG611151 |NA:BG611861 |NA:BU682151 |NA:BX102171 |NA:none PAC|XP:NP_005162 SYM|ATF1 NAM|activating transcription factor 1 SYN|TREB36 FNC|activating transcription factor 1 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36908 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=466[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:304637 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005171 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005171 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=36908 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25083 DBL|UNIGENE:Hs.36908 |OMIM:123803 |SNP:466 MAP|12q13 ENZ|protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Atf1; score == 399; expect == 9e-112; MEOW:MGgn0000565 (91%) |species == rat; score == 395; expect == 2e-110; MEOW:ref|XP_235657.1| (92%) |species == Human; gene == CREB1; score == 251; expect == 2.9e-67; MEOW:HUgn0001385 (69%) |species == Human; gene == CREM; score == 224; expect == 3.9e-59; MEOW:HUgn0001390 (58%) } # EOR GENR { RETE|ID 1 HUgn0000467 CHR 1 1 DID 1 LocusLink:467 MAP 1 1q32.3 NAM 1 activating transcription factor 3 ORG 1 Homo sapiens SYM 1 ATF3 ID|HUgn0000467 DID|LocusLink:467 ORG|Homo sapiens RSQ|REFSEQ:NM_001674 |REFSEQ:NM_004024 RPA|REFPROT:NP_001665 |REFPROT:NP_004015 DBA|XM:NM_001674 |XM:NM_004024 |NA:AB066566 |NA:AB078026 |NA:AB078027 |NA:AK125255 |NA:BC006322 |NA:L19871 |NA:none PAC|XP:NP_001665 |XP:NP_004015 SYM|ATF3 NAM|activating transcription factor 3 FNC|activating transcription factor 3 delta Zip isoform |activating transcription factor 3 long isoform |regulation of transcription, DNA-dependent ; GO:0006355 REAB|Activating transcription factor 3 (ATF3)is a member of the mammalian activation transcription |factor/cAMP responsive element-binding (CREB) protein family of transcription factors. | It encodes a protein with a calculated molecular mass of 22 kD. ATF3 represses |rather than activates transcription from promoters with ATF binding elements. An |alternatively spliced form of ATF3 (ATF3 delta Zip) encodes a truncated form ATF3 |protein lacking the leucine zipper protein-dimerization motif and does not bind |to DNA. In contrast to ATF3, ATF3 delta Zip stimulates transcription presumably |by sequestering inhibitory co-factors away from the promoter. It is possible that |alternative splicing of the ATF3 gene may be physiologically important in the regulation |of target genes. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=460 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=467[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:370911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004024 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004024 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=460 DBL|UNIGENE:Hs.460 |OMIM:603148 |SNP:467 MAP|1q32.3 ENZ|transcription co-repressor activity ; GO:0003714 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 319; expect == 4.5e-88; MEOW:ref|NP_037044.1| (95%) } # EOR GENR { RETE|ID 1 HUgn0000468 CHR 1 22 DID 1 LocusLink:468 MAP 1 22q13.1 NAM 1 activating transcription factor 4 (tax-responsive enhancer element B67) ORG 1 Homo sapiens SYM 1 ATF4 ID|HUgn0000468 DID|LocusLink:468 ORG|Homo sapiens RSQ|REFSEQ:NM_001675 |REFSEQ:NM_182810 RPA|REFPROT:NP_001666 |REFPROT:NP_877962 DBA|XM:NM_001675 |NA:AL022312 |NA:AK057751 |NA:BC008090 |NA:BC011994 |NA:BC016855 |NA:BC022088 |NA:BC024775 |NA:BC044895 |NA:D90209 |NA:M86842 |NA:none PAC|XP:NP_001666 SYM|ATF4 NAM|activating transcription factor 4 (tax-responsive enhancer element B67) SYN|CREB2 |TXREB |CREB-2 |TAXREB67 FNC|activating transcription factor 4 REAB|This gene encodes a transcription factor that was originally identified as a widely |expressed mammalian DNA binding protein that could bind a tax-responsive enhancer |element in the LTR of HTLV-1. The encoded protein was also isolated and characterized |as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by |this gene belongs to a family of DNA-binding proteins that includes the AP-1 family |of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like |proteins. These transcription factors share a leucine zipper region that is involved |in protein-protein interactions, located C-terminal to a stretch of basic amino |acids that functions as a DNA binding domain. Two alternative transcripts encoding |the same protein have been described. Two pseudogenes are located on the X chromsome |at q28 in a region containing a large inverted duplication. CHR|22 PRD|cAMP response element-binding protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181243 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=468[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132551 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001675 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001675 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=181243 DBL|UNIGENE:Hs.181243 |OMIM:604064 |SNP:468 MAP|22q13.1 HG|species == Human; gene == KIAA1917; score == 538; expect == 7e-153; MEOW:HUgn0114804 (93%) |species == Human; gene == LOC143920; score == 521; expect == 3e-148; MEOW:HUgn0143920 (94%) |species == rat; score == 503; expect == 6e-143; MEOW:ref|NP_077379.1| (86%) |species == Mouse; gene == Atf4; score == 426; expect == 8e-120; MEOW:MGgn0000568 (84%) } # EOR GENR { RETE|ID 1 HUgn0000469 CHR 1 X DID 1 LocusLink:469 MAP 1 Xq28 NAM 1 activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene) ORG 1 Homo sapiens SYM 1 ATF4P ID|HUgn0000469 DID|LocusLink:469 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U03712 SYM|ATF4P NAM|activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene) SYN|TXREBP |TAXREB67P CHR|X PRD|cyclic-AMP-dependent transcription factor ATF-4 pseudogene MAP|Xq28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:371753 } # EOR GENR { RETE|ID 1 HUgn0000470 CHR 1 19 DID 1 LocusLink:470 MAP 1 19p13.3-p13.2 NAM 1 atherosclerosis susceptibility (lipoprotein associated) ORG 1 Homo sapiens SYM 1 ATHS ID|HUgn0000470 DID|LocusLink:470 ORG|Homo sapiens SYM|ATHS NAM|atherosclerosis susceptibility (lipoprotein associated) SYN|ALP CHR|19 DBL|OMIM:108725 MAP|19p13.3-p13.2 PHP|Atherosclerosis, susceptibility to URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128803 } # EOR GENR { RETE|ID 1 HUgn0000471 CHR 1 2 DID 1 LocusLink:471 MAP 1 2q35 NAM 1 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ORG 1 Homo sapiens SYM 1 ATIC ID|HUgn0000471 DID|LocusLink:471 ORG|Homo sapiens RSQ|REFSEQ:NM_004044 RPA|REFPROT:NP_004035 DBA|XM:NM_004044 |NA:AB062403 |NA:BC008879 |NA:D82348 |NA:D89976 |NA:U37436 |NA:none PAC|XP:NP_004035 SYM|ATIC NAM|5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase SYN|PURH |AICARFT |IMPCHASE FNC|5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |purine nucleotide biosynthesis ; GO:0006164 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 CHR|2 PRD|AICARFT/IMPCHASE URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90280 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=471[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6108041 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004044 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004044 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=90280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00670 DBL|UNIGENE:Hs.90280 |OMIM:601731 |SNP:471 ENZ|EC:2.1.2.3 |EC:3.5.4.10 |IMP cyclohydrolase activity ; GO:0003937 |phosphoribosylaminoimidazolecarboxamide formyltransferase activity ; GO:0004643 |transferase activity ; GO:0016740 |hydrolase activity ; GO:0016787 MAP|2q35 HG|species == Mouse; gene == Atic; score == 1080; expect == 0.0; MEOW:MGgn0000576 (90%) |species == rat; score == 1077; expect == 0.0; MEOW:ref|NP_112276.1| (91%) |species == Mosquito; gene == LOC15783; score == 819; expect == 0.0; MEOW:AGgn0015783 (68%) |species == Yeast; gene == ADE17; score == 718; expect == 0.0; MEOW:SGgn0004727 (61%) |species == Yeast; gene == ADE16; score == 716; expect == 0.0; MEOW:SGgn0004018 (61%) |species == Worm; gene == C55F2.1b; score == 701; expect == 0.0; MEOW:CEgn0029305 (60%) |species == Fruitfly; gene == CG11089; score == 565; expect == 1e-161; MEOW:FBgn0039241 (71%) |species == ecoli; score == 275; expect == 3.5e-74; MEOW:ref|NP_418434.1| (39%) |species == rice; score == 224; expect == 1.8e-58; MEOW:gnl|TIGR|8356.m01012 (33%) |species == Weed; gene == At2g35040; score == 222; expect == 5.3e-58; MEOW:ATgn0011424 (34%) } # EOR GENR { RETE|ID 1 HUgn0000472 CHR 1 11 DID 1 LocusLink:472 MAP 1 11q22-q23 NAM 1 ataxia telangiectasia mutated (includes complementation groups A, C and D) ORG 1 Homo sapiens SYM 1 ATM ID|HUgn0000472 DID|LocusLink:472 ORG|Homo sapiens RSQ|REFSEQ:NM_000051 |REFSEQ:NM_138292 |REFSEQ:NM_138293 RPA|REFPROT:NP_000042 |REFPROT:NP_612149 |REFPROT:NP_612150 DBA|XM:NM_000051 |XM:NM_138292 |XM:NM_138293 |NA:U55757 |NA:U82828 |NA:BC007023 |NA:BC022306 |NA:BC022307 |NA:U26455 |NA:U33841 |NA:X91196 |NA:Y08455 |NA:none PAC|XP:NP_000042 |XP:NP_612149 |XP:NP_612150 SYM|ATM NAM|ataxia telangiectasia mutated (includes complementation groups A, C and D) SYN|AT1 |ATA |ATC |ATD |ATE |ATDC FNC|ataxia telangiectasia mutated protein isoform 1 |ataxia telangiectasia mutated protein isoform 2 |ataxia telangiectasia mutated protein isoform 3 |meiotic recombination ; GO:0007131 |DNA repair ; GO:0006281 |signal transduction ; GO:0007165 |negative regulation of cell cycle ; GO:0045786 REAB|The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein |is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions |as a regulator of a wide variety of downstream proteins, including tumor suppressor |proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, |and DNA repair protein NBS1. This protein and the closely related kinase ATR are |thought to be master controllers of cell cycle checkpoint signaling pathways that |are required for cell response to DNA damage and for genome stability. Mutations |in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. |At least three alternatively spliced transcript variants, which encode distinct |isoforms, have been identified. CHR|11 PRD|AT mutated |AT protein |serine-protein kinase ATM |AT complementation group A |AT complementation group C |AT complementation group D |AT complementation group E |human phosphatidylinositol 3-kinase homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=504644 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=472[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:593364 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000051 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000051 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=504644 |http://www.geneclinics.org/query?mim=208900 |http://www.geneclinics.org/query?mim=607585 |http://www.ncbi.nlm.nih.gov/disease/ATM.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA61 |http://www.vmresearch.org/atm.htm DBL|UNIGENE:Hs.504644 |OMIM:607585 |SNP:472 |UWCM:593364.html MAP|11q22-q23 PHP|Ataxia-telangiectasia |Breast cancer, susceptibility to |Lymphoma, B-cell non-Hodgkin, somatic |Lymphoma, mantle cell |T-cell prolymphocytic leukemia, sporadic ENZ|protein serine/threonine kinase activity ; GO:0004674 |DNA binding ; GO:0003677 |inositol/phosphatidylinositol kinase activity ; GO:0004428 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Atm; score == 5031; expect == 0.0; MEOW:MGgn0000577 (83%) |species == rat; score == 4701; expect == 0.0; MEOW:ref|XP_236275.2| (81%) |species == rice; score == 570; expect == 1e-161; MEOW:gnl|TIGR|8350.m00069 (31%) |species == Mosquito; score == 463; expect == 3e-130; MEOW:AGgn0025430 (30%) |species == Fruitfly; gene == CG6535; score == 426; expect == 1e-119; MEOW:FBgn0038308 (40%) |species == Yeast; gene == TEL1; score == 344; expect == 6.4e-94; MEOW:SGgn0000184 (29%) |species == Weed; gene == At5g40820; score == 261; expect == 4.6e-69; MEOW:ATgn0021362 (21%) |species == Worm; gene == atm-1; score == 242; expect == 5.5e-64; MEOW:CEgn0029072 (28%) |species == Human; gene == ATR; score == 228; expect == 4.8e-59; MEOW:HUgn0000545 (29%) |species == Worm; gene == let-363; score == 194; expect == 6.1e-49; MEOW:CEgn0001414 (32%) } # EOR GENR { RETE|ID 1 HUgn0000473 CHR 1 1 DID 1 LocusLink:473 MAP 1 1p36.1-p36.2 NAM 1 arginine-glutamic acid dipeptide (RE) repeats ORG 1 Homo sapiens SYM 1 RERE ID|HUgn0000473 DID|LocusLink:473 ORG|Homo sapiens RSQ|REFSEQ:NM_012102 RPA|REFPROT:NP_036234 DBA|XM:NM_012102 |NA:AB007927 |NA:AB036737 |NA:AF016005 |NA:AF118275 |NA:AL050176 PAC|XP:NP_036234 SYM|RERE NAM|arginine-glutamic acid dipeptide (RE) repeats SYN|ARG |ARP |DNB1 |ATN1L |KIAA0458 FNC|arginine-glutamic acid dipeptide (RE) repeats CHR|1 PRD|atrophin 1-like |arginine glutamic acid dipeptide RE repeats URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194369 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=473[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9732372 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012102 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012102 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0458 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA34332 DBL|UNIGENE:Hs.194369 |OMIM:605226 |SNP:473 MAP|1p36.1-p36.2 HG|species == rat; score == 993; expect == 0.0; MEOW:ref|NP_446337.1| (90%) |species == Human; gene == DRPLA; score == 409; expect == 9e-114; MEOW:HUgn0001822 (66%) |species == Mouse; gene == Drpla; score == 406; expect == 4e-113; MEOW:MGgn0003549 (65%) |species == Fruitfly; gene == Gug; score == 226; expect == 1.4e-58; MEOW:FBgn0010825 (63%) |species == Worm; gene == egl-27; score == 216; expect == 4.6e-56; MEOW:CEgn0000502 (32%) |species == Mosquito; gene == LOC20897; score == 199; expect == 4.5e-51; MEOW:AGgn0020897 (61%) } # EOR GENR { RETE|ID 1 HUgn0000474 CHR 1 4 DID 1 LocusLink:474 MAP 1 4q22 NAM 1 atonal homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 ATOH1 ID|HUgn0000474 DID|LocusLink:474 ORG|Homo sapiens RSQ|REFSEQ:NM_005172 RPA|REFPROT:NP_005163 DBA|XM:NM_005172 |NA:U61148 |NA:none PAC|XP:NP_005163 SYM|ATOH1 NAM|atonal homolog 1 (Drosophila) SYN|ATH1 |HATH1 |Math1 |MATH-1 FNC|atonal homolog 1 |central nervous system development ; GO:0007417 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247685 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=474[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885807 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005172 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005172 DBL|UNIGENE:Hs.247685 |OMIM:601461 MAP|4q22 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Atoh1; score == 508; expect == 2e-144; MEOW:MGgn0000578 (87%) |species == Zfish; gene == atoh1; score == 176; expect == 1.2e-44; MEOW:ZFgn0000553 (46%) } # EOR GENR { RETE|ID 1 HUgn0000475 CHR 1 5 DID 1 LocusLink:475 MAP 1 5q32 NAM 1 ATX1 antioxidant protein 1 homolog (yeast) ORG 1 Homo sapiens SYM 1 ATOX1 ID|HUgn0000475 DID|LocusLink:475 ORG|Homo sapiens RSQ|REFSEQ:NM_004045 RPA|REFPROT:NP_004036 DBA|XM:NM_004045 |NA:AY165037 |NA:AK091843 |NA:BU172675 |NA:none PAC|XP:NP_004036 SYM|ATOX1 NAM|ATX1 antioxidant protein 1 homolog (yeast) SYN|ATX1 |HAH1 FNC|antioxidant protein 1 |copper ion transport ; GO:0006825 |copper ion homeostasis ; GO:0006878 |ion transport ; GO:0006811 |response to oxidative stress ; GO:0006979 |metal ion transport ; GO:0030001 REAB|This gene encodes a copper chaperone that plays a role in copper homeostasis by binding |and transporting cytosolic copper to ATPase proteins in the trans-Golgi network |for later incorporation to the ceruloplasmin. This protein also functions as an |antioxidant against superoxide and hydrogen peroxide, and therefore, may play a |significant role in cancer carcinogenesis. Because of its cytogenetic location, |this gene represents a candidate gene for 5q-syndrome. CHR|5 PRD|metal transport protein |copper transport protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279910 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=475[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6381307 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004045 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004045 DBL|UNIGENE:Hs.279910 |OMIM:602270 |SNP:475 MAP|5q32 ENZ|copper ion transporter activity ; GO:0005375 |copper ion binding ; GO:0005507 |chaperone activity ; GO:0003754 |metal ion binding ; GO:0046872 } # EOR GENR { RETE|ID 1 HUgn0000476 CHR 1 1 DID 1 LocusLink:476 MAP 1 1p13 NAM 1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ORG 1 Homo sapiens SYM 1 ATP1A1 ID|HUgn0000476 DID|LocusLink:476 ORG|Homo sapiens RSQ|REFSEQ:NM_000701 RPA|REFPROT:NP_000692 DBA|XM:NM_000701 |NA:L76938 |NA:M27572 |NA:BC001330 |NA:BC003077 |NA:BC050359 |NA:J03007 |NA:U16798 |NA:none PAC|XP:NP_000692 SYM|ATP1A1 NAM|ATPase, Na+/K+ transporting, alpha 1 polypeptide FNC|ATPase, Na+/K+ transporting, alpha 1 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |metabolism ; GO:0008152 CHR|1 PRD|ATPase, Na+K+ transporting, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371889 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=476[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119711 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000701 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000701 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=371889 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.371889 |OMIM:182310 |SNP:476 ENZ|EC:3.6.1.37 |monovalent inorganic cation transporter activity ; GO:0015077 |ATP binding ; GO:0005524 |sodium/potassium-exchanging ATPase activity ; GO:0005391 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|1p13 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Atp1a1; score == 1922; expect == 0.0; MEOW:MGgn0000585 (96%) |species == rat; score == 1921; expect == 0.0; MEOW:ref|NP_036636.1| (96%) |species == Zfish; gene == atp1a1a.1; score == 1753; expect == 0.0; MEOW:ZFgn0001995 (88%) |species == Zfish; gene == atp1a1a.4; score == 1745; expect == 0.0; MEOW:ZFgn0001990 (87%) |species == Zfish; gene == atp1a1b; score == 1739; expect == 0.0; MEOW:ZFgn0001991 (88%) |species == Human; gene == ATP1A2; score == 1737; expect == 0.0; MEOW:HUgn0000477 (86%) |species == Mouse; gene == Atp1a2; score == 1734; expect == 0.0; MEOW:MGgn0000586 (86%) |species == rat; score == 1734; expect == 0.0; MEOW:ref|NP_036637.1| (86%) |species == Human; gene == ATP1A3; score == 1724; expect == 0.0; MEOW:HUgn0000478 (88%) |species == rat; score == 1719; expect == 0.0; MEOW:ref|NP_036638.1| (87%) |species == Mouse; gene == Atp1a3; score == 1704; expect == 0.0; MEOW:MGgn0000587 (87%) |species == Zfish; gene == atp1a3a; score == 1694; expect == 0.0; MEOW:ZFgn0001992 (85%) |species == Zfish; gene == atp1a3b; score == 1691; expect == 0.0; MEOW:ZFgn0002005 (87%) |species == Zfish; gene == atp1a2a; score == 1690; expect == 0.0; MEOW:ZFgn0002004 (85%) |species == Zfish; gene == atp1a1a.3; score == 1656; expect == 0.0; MEOW:ZFgn0002003 (82%) |species == Zfish; gene == atp1a1a.2; score == 1584; expect == 0.0; MEOW:ZFgn0002002 (79%) |species == rat; score == 1537; expect == 0.0; MEOW:ref|NP_074039.1| (79%) |species == Human; gene == ATP1A4; score == 1521; expect == 0.0; MEOW:HUgn0000480 (79%) |species == Fruitfly; gene == Atp&agr;; score == 1505; expect == 0.0; MEOW:FBgn0002921 (76%) |species == Mosquito; gene == LOC16876; score == 1474; expect == 0.0; MEOW:AGgn0016876 (76%) |species == Mosquito; gene == LOC22526; score == 1474; expect == 0.0; MEOW:AGgn0022526 (76%) |species == Mosquito; gene == LOC24378; score == 1474; expect == 0.0; MEOW:AGgn0024378 (76%) |species == Worm; gene == eat-6; score == 1446; expect == 0.0; MEOW:CEgn0000460 (73%) |species == Mosquito; score == 1318; expect == 0.0; MEOW:AGgn0029230 (77%) |species == Yeast; gene == PMR1; score == 382; expect == 7e-106; MEOW:SGgn0003135 (32%) |species == Weed; gene == At1g07810; score == 364; expect == 2e-100; MEOW:ATgn0001937 (27%) |species == rice; score == 344; expect == 1.8e-94; MEOW:gnl|TIGR|8360.m01572 (27%) |species == Weed; gene == At4g00900; score == 340; expect == 2.5e-93; MEOW:ATgn0020287 (27%) |species == Weed; gene == At1g10130; score == 332; expect == 8.5e-91; MEOW:ATgn0004091 (29%) |species == rice; score == 332; expect == 9.0e-91; MEOW:gnl|TIGR|8353.m00193 (30%) |species == rice; score == 298; expect == 8.2e-81; MEOW:gnl|TIGR|8359.m03771 (30%) |species == rice; score == 292; expect == 1.7e-78; MEOW:gnl|TIGR|8360.m03759 (30%) |species == rice; score == 289; expect == 5.0e-78; MEOW:gnl|TIGR|8360.m00908 (30%) |species == rice; score == 288; expect == 2.5e-77; MEOW:gnl|TIGR|8356.m03932 (29%) |species == ecoli; score == 269; expect == 4.6e-72; MEOW:ref|NP_418663.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000477 CHR 1 1 DID 1 LocusLink:477 MAP 1 1q21-q23 NAM 1 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ORG 1 Homo sapiens SYM 1 ATP1A2 ID|HUgn0000477 DID|LocusLink:477 ORG|Homo sapiens RSQ|REFSEQ:NM_000702 RPA|REFPROT:NP_000693 DBA|XM:NM_000702 |NA:J05096 |NA:AB018321 |NA:AK124581 |NA:AL831991 |NA:AL831997 |NA:BC013680 |NA:BC047533 |NA:BC052271 |NA:none PAC|XP:NP_000693 SYM|ATP1A2 NAM|ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide SYN|FHM2 |MHP2 FNC|ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |metabolism ; GO:0008152 CHR|1 PRD|migraine, hemiplegic 2 |ATPase, Na+K+ transporting, alpha-2 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=34114 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=477[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119712 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000702 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000702 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=34114 |http://www.geneclinics.org/query?mim=182340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.34114 |OMIM:182340 |SNP:477 ENZ|EC:3.6.1.37 |monovalent inorganic cation transporter activity ; GO:0015077 |ATP binding ; GO:0005524 |sodium/potassium-exchanging ATPase activity ; GO:0005391 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|1q21-q23 PHP|Migraine, familial hemiplegic, 2 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Atp1a2; score == 1952; expect == 0.0; MEOW:MGgn0000586 (99%) |species == rat; score == 1952; expect == 0.0; MEOW:ref|NP_036637.1| (99%) |species == Human; gene == ATP1A3; score == 1743; expect == 0.0; MEOW:HUgn0000478 (88%) |species == rat; score == 1738; expect == 0.0; MEOW:ref|NP_036638.1| (88%) |species == Human; gene == ATP1A1; score == 1737; expect == 0.0; MEOW:HUgn0000476 (86%) |species == Zfish; gene == atp1a2a; score == 1734; expect == 0.0; MEOW:ZFgn0002004 (86%) |species == Zfish; gene == atp1a1a.1; score == 1726; expect == 0.0; MEOW:ZFgn0001995 (84%) |species == Mouse; gene == Atp1a3; score == 1723; expect == 0.0; MEOW:MGgn0000587 (88%) |species == Mouse; gene == Atp1a1; score == 1720; expect == 0.0; MEOW:MGgn0000585 (86%) |species == rat; score == 1719; expect == 0.0; MEOW:ref|NP_036636.1| (86%) |species == Zfish; gene == atp1a3b; score == 1716; expect == 0.0; MEOW:ZFgn0002005 (85%) |species == Zfish; gene == atp1a1b; score == 1714; expect == 0.0; MEOW:ZFgn0001991 (85%) |species == Zfish; gene == atp1a3a; score == 1713; expect == 0.0; MEOW:ZFgn0001992 (86%) |species == Zfish; gene == atp1a1a.4; score == 1697; expect == 0.0; MEOW:ZFgn0001990 (83%) |species == Zfish; gene == atp1a1a.3; score == 1626; expect == 0.0; MEOW:ZFgn0002003 (81%) |species == Human; gene == ATP1A4; score == 1589; expect == 0.0; MEOW:HUgn0000480 (81%) |species == Zfish; gene == atp1a1a.2; score == 1563; expect == 0.0; MEOW:ZFgn0002002 (78%) |species == Fruitfly; gene == Atp&agr;; score == 1506; expect == 0.0; MEOW:FBgn0002921 (77%) |species == Mosquito; gene == LOC16876; score == 1494; expect == 0.0; MEOW:AGgn0016876 (76%) |species == Mosquito; gene == LOC22526; score == 1494; expect == 0.0; MEOW:AGgn0022526 (76%) |species == Mosquito; gene == LOC24378; score == 1494; expect == 0.0; MEOW:AGgn0024378 (76%) |species == Worm; gene == eat-6; score == 1433; expect == 0.0; MEOW:CEgn0000460 (72%) |species == Mosquito; score == 1338; expect == 0.0; MEOW:AGgn0029230 (77%) |species == Yeast; gene == PMR1; score == 370; expect == 6e-103; MEOW:SGgn0003135 (30%) |species == Weed; gene == At4g00900; score == 349; expect == 7.1e-96; MEOW:ATgn0020287 (28%) |species == Weed; gene == At1g07810; score == 343; expect == 3.8e-94; MEOW:ATgn0001937 (29%) |species == rice; score == 342; expect == 5.1e-94; MEOW:gnl|TIGR|8360.m01572 (27%) |species == Weed; gene == At1g10130; score == 339; expect == 5.5e-93; MEOW:ATgn0004091 (29%) |species == rice; score == 338; expect == 2.7e-92; MEOW:gnl|TIGR|8353.m00193 (27%) |species == rice; score == 296; expect == 9.0e-80; MEOW:gnl|TIGR|8359.m03771 (31%) |species == Weed; gene == At3g63380; score == 292; expect == 1.0e-78; MEOW:ATgn0015517 (28%) |species == Weed; gene == At3g22910; score == 290; expect == 3.8e-78; MEOW:ATgn0014811 (29%) |species == Weed; gene == At3g57330; score == 290; expect == 2.2e-78; MEOW:ATgn0016555 (30%) |species == Weed; gene == At1g27770; score == 288; expect == 1.4e-77; MEOW:ATgn0002476 (30%) |species == Weed; gene == At2g41560; score == 288; expect == 1.1e-77; MEOW:ATgn0007529 (30%) |species == Weed; gene == At1g07670; score == 287; expect == 1.8e-77; MEOW:ATgn0001398 (31%) |species == rice; score == 285; expect == 2.7e-76; MEOW:gnl|TIGR|8360.m00908 (31%) |species == Weed; gene == At3g21180; score == 284; expect == 1.6e-76; MEOW:ATgn0013353 (27%) |species == Weed; gene == At4g37640; score == 284; expect == 2.1e-76; MEOW:ATgn0019350 (29%) |species == rice; score == 281; expect == 3.0e-75; MEOW:gnl|TIGR|8356.m03932 (28%) |species == rice; score == 281; expect == 3.0e-75; MEOW:gnl|TIGR|8360.m03759 (29%) |species == rice; score == 281; expect == 3.9e-75; MEOW:gnl|TIGR|8362.m02098 (28%) |species == ecoli; score == 278; expect == 7.6e-75; MEOW:ref|NP_418663.1| (30%) |species == rice; score == 274; expect == 4.8e-73; MEOW:gnl|TIGR|8353.m03699 (29%) } # EOR GENR { RETE|ID 1 HUgn0000478 CHR 1 19 DID 1 LocusLink:478 MAP 1 19q13.31 NAM 1 ATPase, Na+/K+ transporting, alpha 3 polypeptide ORG 1 Homo sapiens SYM 1 ATP1A3 ID|HUgn0000478 DID|LocusLink:478 ORG|Homo sapiens RSQ|REFSEQ:NM_152296 RPA|REFPROT:NP_689509 DBA|XM:NM_152296 |NA:M37457 |NA:X12910 |NA:AK122693 |NA:BC009282 |NA:BC009394 |NA:BC013763 |NA:BC015566 |NA:none PAC|XP:NP_689509 SYM|ATP1A3 NAM|ATPase, Na+/K+ transporting, alpha 3 polypeptide SYN|MGC13276 FNC|ATPase, Na+/K+ transporting, alpha 3 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |transport ; GO:0006810 |metabolism ; GO:0008152 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380447 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=478[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119713 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152296 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152296 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380447 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.380447 |OMIM:182350 |SNP:478 ENZ|EC:3.6.1.37 |monovalent inorganic cation transporter activity ; GO:0015077 |ATP binding ; GO:0005524 |sodium/potassium-exchanging ATPase activity ; GO:0005391 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|19q13.31 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 |integral to membrane ; GO:0016021 HG|species == rat; score == 1932; expect == 0.0; MEOW:ref|NP_036638.1| (99%) |species == Mouse; gene == Atp1a3; score == 1918; expect == 0.0; MEOW:MGgn0000587 (99%) |species == Zfish; gene == atp1a3b; score == 1817; expect == 0.0; MEOW:ZFgn0002005 (92%) |species == Zfish; gene == atp1a3a; score == 1781; expect == 0.0; MEOW:ZFgn0001992 (90%) |species == Human; gene == ATP1A2; score == 1743; expect == 0.0; MEOW:HUgn0000477 (88%) |species == Mouse; gene == Atp1a2; score == 1739; expect == 0.0; MEOW:MGgn0000586 (88%) |species == rat; score == 1739; expect == 0.0; MEOW:ref|NP_036637.1| (88%) |species == Human; gene == ATP1A1; score == 1724; expect == 0.0; MEOW:HUgn0000476 (88%) |species == Zfish; gene == atp1a1a.1; score == 1711; expect == 0.0; MEOW:ZFgn0001995 (86%) |species == Mouse; gene == Atp1a1; score == 1709; expect == 0.0; MEOW:MGgn0000585 (87%) |species == rat; score == 1707; expect == 0.0; MEOW:ref|NP_036636.1| (87%) |species == Zfish; gene == atp1a1b; score == 1702; expect == 0.0; MEOW:ZFgn0001991 (85%) |species == Zfish; gene == atp1a2a; score == 1694; expect == 0.0; MEOW:ZFgn0002004 (85%) |species == Zfish; gene == atp1a1a.4; score == 1691; expect == 0.0; MEOW:ZFgn0001990 (85%) |species == Zfish; gene == atp1a1a.3; score == 1611; expect == 0.0; MEOW:ZFgn0002003 (80%) |species == Zfish; gene == atp1a1a.2; score == 1550; expect == 0.0; MEOW:ZFgn0002002 (77%) |species == Human; gene == ATP1A4; score == 1533; expect == 0.0; MEOW:HUgn0000480 (78%) |species == Mosquito; gene == LOC16876; score == 1518; expect == 0.0; MEOW:AGgn0016876 (78%) |species == Mosquito; gene == LOC22526; score == 1518; expect == 0.0; MEOW:AGgn0022526 (78%) |species == Mosquito; gene == LOC24378; score == 1518; expect == 0.0; MEOW:AGgn0024378 (78%) |species == Fruitfly; gene == Atp&agr;; score == 1518; expect == 0.0; MEOW:FBgn0002921 (76%) |species == Worm; gene == eat-6; score == 1443; expect == 0.0; MEOW:CEgn0000460 (72%) |species == Mosquito; score == 1357; expect == 0.0; MEOW:AGgn0029230 (78%) |species == Yeast; gene == PMR1; score == 383; expect == 3e-106; MEOW:SGgn0003135 (32%) |species == Weed; gene == At1g07810; score == 357; expect == 1.5e-98; MEOW:ATgn0001937 (27%) |species == Weed; gene == At4g00900; score == 355; expect == 7.6e-98; MEOW:ATgn0020287 (28%) |species == rice; score == 355; expect == 5.9e-98; MEOW:gnl|TIGR|8360.m01572 (28%) |species == rice; score == 337; expect == 1.6e-92; MEOW:gnl|TIGR|8353.m00193 (31%) |species == Weed; gene == At1g10130; score == 328; expect == 9.6e-90; MEOW:ATgn0004091 (29%) |species == Weed; gene == At3g57330; score == 298; expect == 8.2e-81; MEOW:ATgn0016555 (30%) |species == Weed; gene == At3g63380; score == 296; expect == 5.3e-80; MEOW:ATgn0015517 (28%) |species == Weed; gene == At2g41560; score == 295; expect == 9.0e-80; MEOW:ATgn0007529 (29%) |species == Weed; gene == At3g22910; score == 291; expect == 1.7e-78; MEOW:ATgn0014811 (28%) |species == Weed; gene == At1g07670; score == 290; expect == 2.1e-78; MEOW:ATgn0001398 (30%) |species == Weed; gene == At3g21180; score == 289; expect == 6.4e-78; MEOW:ATgn0013353 (27%) |species == rice; score == 288; expect == 2.4e-77; MEOW:gnl|TIGR|8359.m03771 (30%) |species == rice; score == 287; expect == 5.4e-77; MEOW:gnl|TIGR|8360.m00908 (30%) |species == rice; score == 284; expect == 3.5e-76; MEOW:gnl|TIGR|8356.m03932 (29%) |species == ecoli; score == 279; expect == 4.5e-75; MEOW:ref|NP_418663.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000479 CHR 1 13 DID 1 LocusLink:479 MAP 1 13q11-q12.1 NAM 1 ATPase, H+/K+ transporting, nongastric, alpha polypeptide ORG 1 Homo sapiens SYM 1 ATP12A ID|HUgn0000479 DID|LocusLink:479 ORG|Homo sapiens RSQ|REFSEQ:NM_001676 RPA|REFPROT:NP_001667 DBA|XM:NM_001676 |NA:L42558 |NA:L42559 |NA:L42560 |NA:L42561 |NA:L42562 |NA:L42563 |NA:L42565 |NA:L42566 |NA:L42567 |NA:L42568 |NA:L42569 |NA:BC031609 |NA:U02076 |NA:none PAC|XP:NP_001667 SYM|ATP12A NAM|ATPase, H+/K+ transporting, nongastric, alpha polypeptide SYN|ATP1AL1 FNC|ATPase, H+/K+ transporting, nongastric, alpha polypeptide |proton transport ; GO:0015992 |potassium ion transport ; GO:0006813 |metabolism ; GO:0008152 CHR|13 PRD|ATPase, Na+K+ transporting, alpha-1 polypeptide-like |ATPase, Na+/K+ transporting, alpha polypeptide-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147111 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=479[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119714 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001676 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001676 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=147111 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.147111 |OMIM:182360 |SNP:479 ENZ|EC:3.6.1.36 |hydrogen/potassium-exchanging ATPase activity ; GO:0008900 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|13q11-q12.1 CEL|hydrogen/potassium-exchanging ATPase complex ; GO:0005889 |integral to membrane ; GO:0016021 HG|species == rat; score == 1730; expect == 0.0; MEOW:ref|NP_598201.1| (86%) |species == Mouse; gene == Atp12a; score == 1714; expect == 0.0; MEOW:MGgn0040420 (86%) |species == Human; gene == ATP4A; score == 1293; expect == 0.0; MEOW:HUgn0000495 (65%) |species == Human; gene == ATP1A1; score == 1292; expect == 0.0; MEOW:HUgn0000476 (65%) |species == Human; gene == ATP1A2; score == 1292; expect == 0.0; MEOW:HUgn0000477 (66%) |species == Human; gene == ATP1A3; score == 1291; expect == 0.0; MEOW:HUgn0000478 (65%) |species == Zfish; gene == atp1a3b; score == 1278; expect == 0.0; MEOW:ZFgn0002005 (64%) |species == Zfish; gene == atp1a1a.1; score == 1277; expect == 0.0; MEOW:ZFgn0001995 (64%) |species == Zfish; gene == atp1a2a; score == 1274; expect == 0.0; MEOW:ZFgn0002004 (65%) |species == Zfish; gene == atp1a3a; score == 1270; expect == 0.0; MEOW:ZFgn0001992 (64%) |species == Zfish; gene == atp1a1a.4; score == 1268; expect == 0.0; MEOW:ZFgn0001990 (65%) |species == Zfish; gene == atp1a1b; score == 1268; expect == 0.0; MEOW:ZFgn0001991 (63%) |species == Zfish; gene == atp1a1a.3; score == 1245; expect == 0.0; MEOW:ZFgn0002003 (62%) |species == Fruitfly; gene == Atp&agr;; score == 1238; expect == 0.0; MEOW:FBgn0002921 (64%) |species == Zfish; gene == atp1a1a.2; score == 1233; expect == 0.0; MEOW:ZFgn0002002 (63%) |species == Mosquito; gene == LOC16876; score == 1222; expect == 0.0; MEOW:AGgn0016876 (64%) |species == Mosquito; gene == LOC22526; score == 1222; expect == 0.0; MEOW:AGgn0022526 (64%) |species == Mosquito; gene == LOC24378; score == 1222; expect == 0.0; MEOW:AGgn0024378 (64%) |species == Human; gene == ATP1A4; score == 1209; expect == 0.0; MEOW:HUgn0000480 (63%) |species == Worm; gene == eat-6; score == 1169; expect == 0.0; MEOW:CEgn0000460 (59%) |species == Mosquito; score == 1146; expect == 0.0; MEOW:AGgn0029230 (66%) |species == Weed; gene == At1g07810; score == 360; expect == 1.8e-99; MEOW:ATgn0001937 (30%) |species == Yeast; gene == PMR1; score == 350; expect == 6.7e-97; MEOW:SGgn0003135 (31%) |species == Weed; gene == At1g10130; score == 337; expect == 2.8e-92; MEOW:ATgn0004091 (30%) |species == rice; score == 337; expect == 6.1e-92; MEOW:gnl|TIGR|8353.m00193 (30%) |species == rice; score == 333; expect == 8.9e-91; MEOW:gnl|TIGR|8360.m01572 (31%) |species == Weed; gene == At4g00900; score == 328; expect == 1.3e-89; MEOW:ATgn0020287 (29%) |species == Yeast; gene == ENA5; score == 328; expect == 1.4e-89; MEOW:SGgn0002445 (28%) |species == Yeast; gene == ENA2; score == 328; expect == 1.4e-89; MEOW:SGgn0002446 (28%) |species == Yeast; gene == ENA1; score == 317; expect == 1.8e-86; MEOW:SGgn0002447 (28%) |species == Weed; gene == At3g57330; score == 305; expect == 1.2e-82; MEOW:ATgn0016555 (29%) |species == Weed; gene == At2g22950; score == 301; expect == 1.3e-81; MEOW:ATgn0007357 (29%) |species == Weed; gene == At1g27770; score == 300; expect == 2.2e-81; MEOW:ATgn0002476 (30%) |species == Weed; gene == At4g37640; score == 300; expect == 3.7e-81; MEOW:ATgn0019350 (29%) |species == Weed; gene == At2g41560; score == 295; expect == 7.1e-80; MEOW:ATgn0007529 (28%) |species == rice; score == 294; expect == 4.6e-79; MEOW:gnl|TIGR|8360.m03759 (31%) |species == Weed; gene == At3g63380; score == 293; expect == 2.7e-79; MEOW:ATgn0015517 (28%) |species == rice; score == 293; expect == 1.0e-78; MEOW:gnl|TIGR|8359.m00320 (31%) |species == rice; score == 292; expect == 1.7e-78; MEOW:gnl|TIGR|8353.m03699 (30%) |species == rice; score == 288; expect == 1.9e-77; MEOW:gnl|TIGR|8358.m00345 (31%) |species == rice; score == 288; expect == 3.3e-77; MEOW:gnl|TIGR|8360.m00908 (29%) |species == rice; score == 285; expect == 2.8e-76; MEOW:gnl|TIGR|8359.m03771 (30%) |species == rice; score == 270; expect == 7.1e-72; MEOW:gnl|TIGR|8362.m02098 (28%) |species == ecoli; score == 258; expect == 1.4e-68; MEOW:ref|NP_418663.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000480 CHR 1 1 DID 1 LocusLink:480 MAP 1 1q21-q23 NAM 1 ATPase, Na+/K+ transporting, alpha 4 polypeptide ORG 1 Homo sapiens SYM 1 ATP1A4 ID|HUgn0000480 DID|LocusLink:480 ORG|Homo sapiens RSQ|REFSEQ:NM_144699 RPA|REFPROT:NP_653300 DBA|XM:XM_086379 |NA:AF310646 |NA:AF352828 |NA:AF390027 |NA:AF421887 |NA:AF430843 |NA:AY039031 |NA:U15286 |NA:AF459737 |NA:AF506797 |NA:AK098076 |NA:AL833335 |NA:BC028297 |NA:BC036052 |NA:BI560630 |NA:BX647234 |NA:none PAC|XP:XP_086379 SYM|ATP1A4 NAM|ATPase, Na+/K+ transporting, alpha 4 polypeptide SYN|ATP1AL2 |MGC25056 FNC|ATPase, Na+/K+ transporting, alpha 4 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |metabolism ; GO:0008152 CHR|1 PRD|ATPase, Na+/K+ transporting, alpha polypeptide-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=367953 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=480[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128292 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_144699 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_144699 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=367953 DBL|UNIGENE:Hs.367953 |OMIM:607321 |SNP:480 MAP|1q21-q23 ENZ|monovalent inorganic cation transporter activity ; GO:0015077 |ATP binding ; GO:0005524 |sodium/potassium-exchanging ATPase activity ; GO:0005391 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1664; expect == 0.0; MEOW:ref|NP_074039.1| (85%) |species == Human; gene == ATP1A2; score == 1589; expect == 0.0; MEOW:HUgn0000477 (81%) |species == Mouse; gene == Atp1a2; score == 1586; expect == 0.0; MEOW:MGgn0000586 (81%) |species == rat; score == 1586; expect == 0.0; MEOW:ref|NP_036637.1| (81%) |species == Zfish; gene == atp1a2a; score == 1546; expect == 0.0; MEOW:ZFgn0002004 (79%) |species == rat; score == 1537; expect == 0.0; MEOW:ref|NP_036636.1| (79%) |species == Mouse; gene == Atp1a1; score == 1536; expect == 0.0; MEOW:MGgn0000585 (79%) |species == Human; gene == ATP1A3; score == 1533; expect == 0.0; MEOW:HUgn0000478 (78%) |species == rat; score == 1528; expect == 0.0; MEOW:ref|NP_036638.1| (78%) |species == Human; gene == ATP1A1; score == 1521; expect == 0.0; MEOW:HUgn0000476 (79%) |species == Mouse; gene == Atp1a3; score == 1514; expect == 0.0; MEOW:MGgn0000587 (78%) |species == Zfish; gene == atp1a1a.4; score == 1508; expect == 0.0; MEOW:ZFgn0001990 (78%) |species == Zfish; gene == atp1a3a; score == 1508; expect == 0.0; MEOW:ZFgn0001992 (78%) |species == Zfish; gene == atp1a3b; score == 1508; expect == 0.0; MEOW:ZFgn0002005 (78%) |species == Zfish; gene == atp1a1a.1; score == 1483; expect == 0.0; MEOW:ZFgn0001995 (78%) |species == Zfish; gene == atp1a1b; score == 1476; expect == 0.0; MEOW:ZFgn0001991 (78%) |species == Zfish; gene == atp1a1a.3; score == 1468; expect == 0.0; MEOW:ZFgn0002003 (75%) |species == Fruitfly; gene == Atp&agr;; score == 1395; expect == 0.0; MEOW:FBgn0002921 (71%) |species == Zfish; gene == atp1a1a.2; score == 1395; expect == 0.0; MEOW:ZFgn0002002 (73%) |species == Worm; gene == eat-6; score == 1378; expect == 0.0; MEOW:CEgn0000460 (69%) |species == Mosquito; gene == LOC16876; score == 1357; expect == 0.0; MEOW:AGgn0016876 (73%) |species == Mosquito; gene == LOC22526; score == 1357; expect == 0.0; MEOW:AGgn0022526 (73%) |species == Mosquito; gene == LOC24378; score == 1357; expect == 0.0; MEOW:AGgn0024378 (73%) |species == Mosquito; score == 1201; expect == 0.0; MEOW:AGgn0029230 (73%) |species == Weed; gene == At1g07810; score == 365; expect == 7e-101; MEOW:ATgn0001937 (29%) |species == Yeast; gene == PMR1; score == 359; expect == 6.1e-99; MEOW:SGgn0003135 (31%) |species == rice; score == 342; expect == 8.8e-94; MEOW:gnl|TIGR|8360.m01572 (28%) |species == Weed; gene == At4g00900; score == 334; expect == 1.4e-91; MEOW:ATgn0020287 (27%) |species == Weed; gene == At1g10130; score == 332; expect == 6.5e-91; MEOW:ATgn0004091 (29%) |species == Yeast; gene == ENA5; score == 312; expect == 5.9e-85; MEOW:SGgn0002445 (29%) |species == Yeast; gene == ENA2; score == 312; expect == 5.9e-85; MEOW:SGgn0002446 (29%) |species == Yeast; gene == ENA1; score == 307; expect == 1.9e-83; MEOW:SGgn0002447 (30%) |species == rice; score == 294; expect == 3.3e-79; MEOW:gnl|TIGR|8353.m00193 (28%) |species == ecoli; score == 256; expect == 4.0e-68; MEOW:ref|NP_418663.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000481 CHR 1 1 DID 1 LocusLink:481 MAP 1 1q24 NAM 1 ATPase, Na+/K+ transporting, beta 1 polypeptide ORG 1 Homo sapiens SYM 1 ATP1B1 ID|HUgn0000481 DID|LocusLink:481 ORG|Homo sapiens RSQ|REFSEQ:NM_001677 RPA|REFPROT:NP_001668 DBA|XM:NM_001677 |NA:M25160 |NA:AA507932 |NA:BC000006 |NA:BG702024 |NA:BT009787 |NA:CD106723 |NA:U16799 |NA:none PAC|XP:NP_001668 SYM|ATP1B1 NAM|ATPase, Na+/K+ transporting, beta 1 polypeptide SYN|ATP1B FNC|ATPase, Na+/K+ transporting, beta 1 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |transport ; GO:0006810 CHR|1 PRD|ATPase, Na+K+ transporting, beta-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78629 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=481[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120557 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001677 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001677 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78629 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.78629 |OMIM:182330 |SNP:481 ENZ|EC:3.6.1.37 |sodium/potassium-exchanging ATPase activity ; GO:0005391 MAP|1q24 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 |integral to membrane ; GO:0016021 HG|species == rat; score == 577; expect == 2e-165; MEOW:ref|NP_037245.1| (94%) |species == Mouse; gene == Atp1b1; score == 576; expect == 4e-165; MEOW:MGgn0000589 (93%) |species == Zfish; gene == atp1b1b; score == 387; expect == 5e-108; MEOW:ZFgn0001982 (59%) |species == Zfish; gene == atp1b1a; score == 381; expect == 2e-106; MEOW:ZFgn0001964 (58%) |species == Human; gene == ATP1B2; score == 209; expect == 1.4e-54; MEOW:HUgn0000482 (38%) |species == Human; gene == ATP1B3; score == 174; expect == 6.2e-44; MEOW:HUgn0000483 (35%) |species == Human; gene == ATP1B4; score == 171; expect == 7.3e-43; MEOW:HUgn0023439 (33%) |species == Worm; gene == F55F3.3; score == 148; expect == 4.4e-36; MEOW:CEgn0011958 (31%) |species == Fruitfly; gene == Nrv1; score == 139; expect == 2.0e-33; MEOW:FBgn0015776 (33%) |species == Fruitfly; gene == Nrv3; score == 133; expect == 1.4e-31; MEOW:FBgn0032946 (30%) } # EOR GENR { RETE|ID 1 HUgn0000482 CHR 1 17 DID 1 LocusLink:482 MAP 1 17p13.1 NAM 1 ATPase, Na+/K+ transporting, beta 2 polypeptide ORG 1 Homo sapiens SYM 1 ATP1B2 ID|HUgn0000482 DID|LocusLink:482 ORG|Homo sapiens RSQ|REFSEQ:NM_001678 RPA|REFPROT:NP_001669 DBA|XM:NM_001678 |NA:AF007876 |NA:M81181 |NA:U45945 |NA:none PAC|XP:NP_001669 SYM|ATP1B2 NAM|ATPase, Na+/K+ transporting, beta 2 polypeptide SYN|AMOG FNC|ATPase, Na+/K+ transporting, beta 2 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |transport ; GO:0006810 CHR|17 PRD|ATPase, Na+K+ transporting, beta-2 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78854 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=482[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118756 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001678 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001678 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.78854 |OMIM:182331 |SNP:482 ENZ|EC:3.6.1.37 |sodium/potassium-exchanging ATPase activity ; GO:0005391 MAP|17p13.1 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 596; expect == 5e-171; MEOW:ref|NP_036639.1| (97%) |species == Mouse; gene == Atp1b2; score == 594; expect == 2e-170; MEOW:MGgn0000590 (96%) |species == Zfish; gene == atp1b2b; score == 330; expect == 3.0e-92; MEOW:ZFgn0002291 (56%) |species == Zfish; gene == atp1b2a; score == 328; expect == 1.5e-91; MEOW:ZFgn0001981 (55%) |species == Zfish; gene == atp1b3b; score == 278; expect == 1.7e-76; MEOW:ZFgn0001980 (49%) |species == Zfish; gene == atp1b3a; score == 264; expect == 2.6e-72; MEOW:ZFgn0000425 (49%) |species == Human; gene == ATP1B3; score == 247; expect == 4.4e-66; MEOW:HUgn0000483 (47%) |species == Human; gene == ATP4B; score == 228; expect == 3.8e-60; MEOW:HUgn0000496 (38%) |species == Human; gene == ATP1B4; score == 226; expect == 1.5e-59; MEOW:HUgn0023439 (40%) |species == Human; gene == ATP1B1; score == 209; expect == 1.4e-54; MEOW:HUgn0000481 (38%) } # EOR GENR { RETE|ID 1 HUgn0000483 CHR 1 3 DID 1 LocusLink:483 MAP 1 3q22-q23 NAM 1 ATPase, Na+/K+ transporting, beta 3 polypeptide ORG 1 Homo sapiens SYM 1 ATP1B3 ID|HUgn0000483 DID|LocusLink:483 ORG|Homo sapiens RSQ|REFSEQ:NM_001679 RPA|REFPROT:NP_001670 DBA|XM:NM_001679 |NA:AF005896 |NA:AK131061 |NA:BC001469 |NA:BC011835 |NA:U51478 |NA:none PAC|XP:NP_001670 SYM|ATP1B3 NAM|ATPase, Na+/K+ transporting, beta 3 polypeptide FNC|ATPase, Na+/K+ transporting, beta 3 polypeptide |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 |transport ; GO:0006810 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76941 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=483[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6275878 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001679 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001679 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76941 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.76941 |OMIM:601867 |SNP:483 ENZ|EC:3.6.1.37 |sodium/potassium-exchanging ATPase activity ; GO:0005391 MAP|3q22-q23 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 |integral to membrane ; GO:0016021 HG|species == rat; score == 447; expect == 4e-126; MEOW:ref|NP_037045.1| (74%) |species == Mouse; gene == Atp1b3; score == 425; expect == 1e-119; MEOW:MGgn0000591 (73%) |species == rat; score == 406; expect == 1e-113; MEOW:ref|XP_213132.2| (68%) |species == Zfish; gene == atp1b3a; score == 300; expect == 2.4e-83; MEOW:ZFgn0000425 (55%) |species == Zfish; gene == atp1b3b; score == 292; expect == 1.5e-79; MEOW:ZFgn0001980 (51%) |species == Human; gene == ATP1B2; score == 247; expect == 4.4e-66; MEOW:HUgn0000482 (47%) } # EOR GENR { RETE|ID 1 HUgn0000484 CHR 1 2 DID 1 LocusLink:484 MAP 1 2p15-p13 NAM 1 ATPase, Na+/K+ transporting, beta 3 pseudogene ORG 1 Homo sapiens SYM 1 ATP1B3P1 ID|HUgn0000484 DID|LocusLink:484 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF005898 SYM|ATP1B3P1 NAM|ATPase, Na+/K+ transporting, beta 3 pseudogene CHR|2 PRD|ATPase, Na+/K+ transporting, beta 3 pseudogene 1 MAP|2p15-p13 DBL|SNP:484 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6383265 ENZ|sodium/potassium-exchanging ATPase activity ; GO:0005391 FNC|sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 CEL|membrane ; GO:0016020 } # EOR GENR { RETE|ID 1 HUgn0000485 CHR 1 4 DID 1 LocusLink:485 MAP 1 4p15-q13 NAM 1 ATPase, Na+/K+ transporting, beta polypeptide-like 1 ORG 1 Homo sapiens SYM 1 ATP1BL1 ID|HUgn0000485 DID|LocusLink:485 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M25159 SYM|ATP1BL1 NAM|ATPase, Na+/K+ transporting, beta polypeptide-like 1 CHR|4 PRD|ATPase, Na+K+ transporting, beta-1 polypeptide-like DBL|OMIM:182370 |SNP:485 MAP|4p15-q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119715 } # EOR GENR { RETE|ID 1 HUgn0000486 CHR 1 11 DID 1 LocusLink:486 MAP 1 11q23 NAM 1 FXYD domain containing ion transport regulator 2 ORG 1 Homo sapiens SYM 1 FXYD2 ID|HUgn0000486 DID|LocusLink:486 ORG|Homo sapiens RSQ|REFSEQ:NM_001680 |REFSEQ:NM_021603 RPA|REFPROT:NP_001671 |REFPROT:NP_067614 DBA|XM:NM_001680 |XM:NM_021603 |NA:AF241235 |NA:AF316896 |NA:AF241236 |NA:AK096069 |NA:BC005302 |NA:BC013289 |NA:U50743 |NA:none PAC|XP:NP_001671 |XP:NP_067614 SYM|FXYD2 NAM|FXYD domain containing ion transport regulator 2 SYN|HOMG2 |ATP1G1 |MGC12372 FNC|FXYD domain-containing ion transport regulator 2 isoform 1 |FXYD domain-containing ion transport regulator 2 isoform 2 |small molecule transport ; GO:0006832 REAB|This gene encodes a member of a family of small membrane proteins that share a 35-amino |acid signature sequence domain, beginning with the sequence PFXYD and containing |7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature |for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has |been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit |of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), |FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce |channel activity in experimental expression systems. Transmembrane topology has |been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular |and the C-terminus on the cytoplasmic side of the membrane. The Type III integral |membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present |on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit |to be functional, it is thought that the gamma subunit modulates the enzyme's activity |by inducing ion channel activity. Mutations in this gene have been associated with |renal hypomagnesaemia. CHR|11 PRD|hypomagnesemia 2, renal |Sodium-potassium-ATPase, gamma polypeptide |ATPase, Na+/K+ transporting, gamma 1 polypeptide |FXYD domain-containing ion transport regulator 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=413137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=486[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9956484 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6185974 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021603 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021603 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=413137 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28442 DBL|UNIGENE:Hs.413137 |OMIM:601814 |SNP:486 |UWCM:6185974.html MAP|11q23 PHP|Hypomagnesemia-2, renal ENZ|sodium/potassium-exchanging ATPase activity ; GO:0005391 |transporter activity ; GO:0005215 CEL|sodium/potassium-exchanging ATPase complex ; GO:0005890 } # EOR GENR { RETE|ID 1 HUgn0000487 CHR 1 16 DID 1 LocusLink:487 MAP 1 16p12.1 NAM 1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ORG 1 Homo sapiens SYM 1 ATP2A1 ID|HUgn0000487 DID|LocusLink:487 ORG|Homo sapiens RSQ|REFSEQ:NM_004320 |REFSEQ:NM_173201 RPA|REFPROT:NP_004311 |REFPROT:NP_775293 DBA|XM:NM_004320 |XM:NM_173201 |NA:U96773 |NA:U96781 |NA:AK092691 |NA:AK128456 |NA:BC037354 |NA:BX537389 |NA:BX537784 |NA:BX647365 |NA:BX647366 |NA:BX647367 |NA:BX647368 |NA:BX648544 |NA:BX649072 |NA:none PAC|XP:NP_004311 |XP:NP_775293 SYM|ATP2A1 NAM|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 SYN|ATP2A |SERCA1 FNC|ATPase, Ca++ transporting, fast twitch 1 isoform a |ATPase, Ca++ transporting, fast twitch 1 isoform b |regulation of striated muscle contraction ; GO:0006942 |small molecule transport ; GO:0006832 REAB|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps |located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme |catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the |cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation |and contraction. Mutations in this gene cause some autosomal recessive forms of |Brody disease, characterized by increasing impairment of muscular relaxation during |exercise. Alternative splicing results in two transcript variants encoding different |isoforms. CHR|16 PRD|calcium pump 1 |SR Ca(2+)-ATPase 1 |endoplasmic reticulum class 1/2 Ca(2+) ATPase |sarcoplasmic/endoplasmic reticulum calcium ATPase 1 |calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183075 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=487[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119716 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004320 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004320 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183075 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.183075 |OMIM:108730 |SNP:487 |UWCM:119716.html ENZ|EC:3.6.3.8 |adenosinetriphosphatase activity ; GO:0004002 |calcium-transporting ATPase activity ; GO:0005388 MAP|16p12.1 PHP|Brody myopathy CEL|smooth endoplasmic reticulum ; GO:0005790 HG|species == Mouse; gene == Atp2a2; score == 1656; expect == 0.0; MEOW:MGgn0000596 (84%) |species == rat; score == 1655; expect == 0.0; MEOW:ref|NP_058986.1| (84%) |species == Human; gene == ATP2A2; score == 1653; expect == 0.0; MEOW:HUgn0000488 (84%) |species == Human; gene == ATP2A3; score == 1491; expect == 0.0; MEOW:HUgn0000489 (76%) |species == Mouse; gene == Atp2a3; score == 1484; expect == 0.0; MEOW:MGgn0000597 (76%) |species == rat; score == 1473; expect == 0.0; MEOW:ref|NP_037046.1| (75%) |species == Mosquito; score == 1426; expect == 0.0; MEOW:AGgn0017693 (72%) |species == Fruitfly; gene == Ca-P60A; score == 1359; expect == 0.0; MEOW:FBgn0004551 (71%) |species == Weed; gene == At1g10130; score == 980; expect == 0.0; MEOW:ATgn0004091 (54%) |species == Weed; gene == At1g07810; score == 887; expect == 0.0; MEOW:ATgn0001937 (50%) |species == rice; score == 858; expect == 0.0; MEOW:gnl|TIGR|8360.m01572 (50%) |species == Weed; gene == At4g00900; score == 843; expect == 0.0; MEOW:ATgn0020287 (48%) |species == rice; score == 822; expect == 0.0; MEOW:gnl|TIGR|8353.m00193 (50%) |species == rice; score == 702; expect == 0.0; MEOW:gnl|TIGR|8360.m04654 (53%) |species == Yeast; gene == PMR1; score == 402; expect == 2e-112; MEOW:SGgn0003135 (31%) |species == Zfish; gene == atp1a2a; score == 347; expect == 2.0e-95; MEOW:ZFgn0002004 (29%) |species == Zfish; gene == atp1a3b; score == 345; expect == 4.8e-96; MEOW:ZFgn0002005 (31%) |species == Zfish; gene == atp1a1a.4; score == 343; expect == 2.9e-94; MEOW:ZFgn0001990 (28%) |species == Worm; gene == eat-6; score == 340; expect == 1.8e-93; MEOW:CEgn0000460 (28%) |species == Zfish; gene == atp1a3a; score == 340; expect == 2.5e-93; MEOW:ZFgn0001992 (29%) |species == Zfish; gene == atp1a1a.3; score == 339; expect == 2.6e-94; MEOW:ZFgn0002003 (30%) |species == Yeast; gene == ENA5; score == 337; expect == 2.2e-92; MEOW:SGgn0002445 (30%) |species == Yeast; gene == ENA2; score == 337; expect == 2.2e-92; MEOW:SGgn0002446 (30%) |species == Zfish; gene == atp1a1a.1; score == 336; expect == 4.7e-92; MEOW:ZFgn0001995 (28%) |species == Zfish; gene == atp1a1a.2; score == 335; expect == 7.9e-92; MEOW:ZFgn0002002 (30%) |species == Zfish; gene == atp1a1b; score == 334; expect == 1.4e-91; MEOW:ZFgn0001991 (29%) |species == Worm; gene == C09H5.2a; score == 308; expect == 8.2e-84; MEOW:CEgn0031654 (28%) |species == Worm; gene == C09H5.2b; score == 308; expect == 8.1e-84; MEOW:CEgn0031655 (28%) |species == Worm; gene == C02E7.1; score == 298; expect == 9.3e-81; MEOW:CEgn0003812 (28%) |species == ecoli; score == 243; expect == 3.5e-64; MEOW:ref|NP_418663.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000488 CHR 1 12 DID 1 LocusLink:488 MAP 1 12q23-q24.1 NAM 1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ORG 1 Homo sapiens SYM 1 ATP2A2 ID|HUgn0000488 DID|LocusLink:488 ORG|Homo sapiens RSQ|REFSEQ:NM_001681 |REFSEQ:NM_170665 RPA|REFPROT:NP_001672 |REFPROT:NP_733765 DBA|XM:NM_001681 |XM:NM_170665 |NA:M23116 |NA:M23278 |NA:BC035588 |NA:M23114 |NA:M23115 |NA:none PAC|XP:NP_001672 |XP:NP_733765 SYM|ATP2A2 NAM|ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 SYN|DD |DAR |ATP2B |SERCA2 |MGC45367 FNC|ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 1 |ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 2 |cation transport ; GO:0006812 |proton transport ; GO:0015992 |epidermal differentiation ; GO:0008544 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 |cell adhesion ; GO:0007155 REAB|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps |located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme |catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the |cytosol to the sarcoplasmic reticulum lumen, and is involved in regulation of the |contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, |also known as keratosis follicularis, an autosomal dominant skin disorder characterized |by loss of adhesion between epidermal cells and abnormal keratinization. Alternative |splicing results in two transcript variants encoding different isoforms. CHR|12 PRD|calcium pump 2 |SR Ca(2+)-ATPase 2 |endoplasmic reticulum class 1/2 Ca(2+) ATPase |sarcoplasmic/endoplasmic reticulum calcium ATPase 2 |ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2 |calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374535 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=488[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119717 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_170665 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_170665 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374535 |http://www.geneclinics.org/query?mim=108740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.374535 |OMIM:108740 |SNP:488 ENZ|EC:3.6.3.8 |ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calcium ion binding ; GO:0005509 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|12q23-q24.1 PHP|Acrokeratosis verruciformis |Darier disease CEL|microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1917; expect == 0.0; MEOW:ref|NP_058986.1| (99%) |species == Mouse; gene == Atp2a2; score == 1916; expect == 0.0; MEOW:MGgn0000596 (98%) |species == Human; gene == ATP2A1; score == 1653; expect == 0.0; MEOW:HUgn0000487 (84%) |species == Mouse; gene == Atp2a3; score == 1548; expect == 0.0; MEOW:MGgn0000597 (78%) |species == Human; gene == ATP2A3; score == 1529; expect == 0.0; MEOW:HUgn0000489 (77%) |species == Mosquito; score == 1435; expect == 0.0; MEOW:AGgn0017693 (72%) |species == Fruitfly; gene == Ca-P60A; score == 1412; expect == 0.0; MEOW:FBgn0004551 (72%) |species == Weed; gene == At1g10130; score == 979; expect == 0.0; MEOW:ATgn0004091 (54%) |species == Weed; gene == At1g07810; score == 881; expect == 0.0; MEOW:ATgn0001937 (49%) |species == rice; score == 848; expect == 0.0; MEOW:gnl|TIGR|8360.m01572 (49%) |species == Weed; gene == At4g00900; score == 844; expect == 0.0; MEOW:ATgn0020287 (48%) |species == rice; score == 844; expect == 0.0; MEOW:gnl|TIGR|8353.m00193 (49%) |species == rice; score == 695; expect == 0.0; MEOW:gnl|TIGR|8360.m04654 (54%) |species == Yeast; gene == PMR1; score == 416; expect == 7e-117; MEOW:SGgn0003135 (30%) |species == Zfish; gene == atp1a1a.3; score == 372; expect == 4e-104; MEOW:ZFgn0002003 (31%) |species == Zfish; gene == atp1a1a.1; score == 368; expect == 4e-103; MEOW:ZFgn0001995 (31%) |species == Zfish; gene == atp1a1a.2; score == 365; expect == 3e-102; MEOW:ZFgn0002002 (29%) |species == Zfish; gene == atp1a3b; score == 362; expect == 2e-101; MEOW:ZFgn0002005 (31%) |species == Zfish; gene == atp1a1b; score == 359; expect == 2e-100; MEOW:ZFgn0001991 (31%) |species == Worm; gene == eat-6; score == 357; expect == 1.7e-98; MEOW:CEgn0000460 (27%) |species == Zfish; gene == atp1a1a.4; score == 356; expect == 2.1e-99; MEOW:ZFgn0001990 (30%) |species == Zfish; gene == atp1a3a; score == 355; expect == 3.6e-99; MEOW:ZFgn0001992 (31%) |species == Zfish; gene == atp1a2a; score == 353; expect == 1.8e-98; MEOW:ZFgn0002004 (28%) |species == Worm; gene == C09H5.2a; score == 328; expect == 4.9e-90; MEOW:CEgn0031654 (26%) |species == Worm; gene == C09H5.2b; score == 320; expect == 1.7e-87; MEOW:CEgn0031655 (28%) |species == Worm; gene == C02E7.1; score == 317; expect == 1.5e-86; MEOW:CEgn0003812 (26%) |species == ecoli; score == 254; expect == 2.6e-68; MEOW:ref|NP_418663.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000489 CHR 1 17 DID 1 LocusLink:489 MAP 1 17p13.3 NAM 1 ATPase, Ca++ transporting, ubiquitous ORG 1 Homo sapiens SYM 1 ATP2A3 ID|HUgn0000489 DID|LocusLink:489 ORG|Homo sapiens RSQ|REFSEQ:NM_005173 |REFSEQ:NM_174953 |REFSEQ:NM_174954 |REFSEQ:NM_174955 |REFSEQ:NM_174956 |REFSEQ:NM_174957 |REFSEQ:NM_174958 RPA|REFPROT:NP_005164 |REFPROT:NP_777613 |REFPROT:NP_777614 |REFPROT:NP_777615 |REFPROT:NP_777616 |REFPROT:NP_777617 |REFPROT:NP_777618 DBA|XM:NM_005173 |XM:NM_174953 |XM:NM_174954 |XM:NM_174955 |XM:NM_174956 |XM:NM_174957 |XM:NM_174958 |NA:Y15724 |NA:Y15737 |NA:Y15738 |NA:Z69880 |NA:AF068220 |NA:AF068221 |NA:AF458228 |NA:AF458229 |NA:BC035729 |NA:S68239 |NA:Z69881 |NA:none PAC|XP:NP_005164 |XP:NP_777613 |XP:NP_777614 |XP:NP_777615 |XP:NP_777616 |XP:NP_777617 |XP:NP_777618 SYM|ATP2A3 NAM|ATPase, Ca++ transporting, ubiquitous SYN|SERCA3 FNC|sarco/endoplasmic reticulum Ca2+ -ATPase isoform a |sarco/endoplasmic reticulum Ca2+ -ATPase isoform b |sarco/endoplasmic reticulum Ca2+ -ATPase isoform c |sarco/endoplasmic reticulum Ca2+ -ATPase isoform d |sarco/endoplasmic reticulum Ca2+ -ATPase isoform e |sarco/endoplasmic reticulum Ca2+ -ATPase isoform f |cation transport ; GO:0006812 |proton transport ; GO:0015992 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 REAB|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps |located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme |catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the |cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration |associated with muscular excitation and contraction. Alternative splicing results |in multiple transcript variants encoding different isoforms. CHR|17 PRD|calcium pump 3 |SR Ca(2+)-ATPase 3 |adenosine triphosphatase, calcium |calcium-translocating P-type ATPase |ATPase, Ca(2+)-transporting, ubiquitous |sarco/endoplasmic reticulum Ca2+ -ATPase |sarcoplasmic/endoplasmic reticulum calcium ATPase 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5541 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=489[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133715 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_174953 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_174953 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5541 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.5541 |OMIM:601929 |SNP:489 |UWCM:133715.html ENZ|EC:3.6.3.8 |ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calcium ion binding ; GO:0005509 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|17p13.3 CEL|endoplasmic reticulum ; GO:0005783 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Atp2a3; score == 1811; expect == 0.0; MEOW:MGgn0000597 (95%) |species == rat; score == 1805; expect == 0.0; MEOW:ref|NP_037046.1| (94%) |species == rat; score == 1533; expect == 0.0; MEOW:ref|NP_058986.1| (77%) |species == Mouse; gene == Atp2a2; score == 1531; expect == 0.0; MEOW:MGgn0000596 (77%) |species == Human; gene == ATP2A2; score == 1529; expect == 0.0; MEOW:HUgn0000488 (77%) |species == Human; gene == ATP2A1; score == 1491; expect == 0.0; MEOW:HUgn0000487 (76%) |species == Mosquito; score == 1350; expect == 0.0; MEOW:AGgn0017693 (69%) |species == Fruitfly; gene == Ca-P60A; score == 1315; expect == 0.0; MEOW:FBgn0004551 (68%) |species == Weed; gene == At1g10130; score == 986; expect == 0.0; MEOW:ATgn0004091 (55%) |species == Weed; gene == At1g07810; score == 866; expect == 0.0; MEOW:ATgn0001937 (49%) |species == rice; score == 842; expect == 0.0; MEOW:gnl|TIGR|8360.m01572 (48%) |species == Weed; gene == At4g00900; score == 835; expect == 0.0; MEOW:ATgn0020287 (49%) |species == rice; score == 807; expect == 0.0; MEOW:gnl|TIGR|8353.m00193 (48%) |species == rice; score == 705; expect == 0.0; MEOW:gnl|TIGR|8360.m04654 (54%) |species == Yeast; gene == PMR1; score == 411; expect == 1e-114; MEOW:SGgn0003135 (31%) |species == Zfish; gene == atp1a3b; score == 373; expect == 2e-104; MEOW:ZFgn0002005 (32%) |species == Zfish; gene == atp1a1a.2; score == 368; expect == 5e-103; MEOW:ZFgn0002002 (30%) |species == Zfish; gene == atp1a1a.1; score == 362; expect == 2e-101; MEOW:ZFgn0001995 (31%) |species == Zfish; gene == atp1a1a.3; score == 362; expect == 4e-101; MEOW:ZFgn0002003 (29%) |species == Worm; gene == eat-6; score == 361; expect == 9e-100; MEOW:CEgn0000460 (29%) |species == Zfish; gene == atp1a1b; score == 361; expect == 7e-101; MEOW:ZFgn0001991 (31%) |species == Zfish; gene == atp1a3a; score == 360; expect == 1e-100; MEOW:ZFgn0001992 (31%) |species == Zfish; gene == atp1a2a; score == 359; expect == 2e-100; MEOW:ZFgn0002004 (32%) |species == Zfish; gene == atp1a1a.4; score == 355; expect == 3.6e-99; MEOW:ZFgn0001990 (28%) |species == Worm; gene == C02E7.1; score == 317; expect == 1.5e-86; MEOW:CEgn0003812 (28%) |species == Worm; gene == C09H5.2a; score == 297; expect == 1.2e-80; MEOW:CEgn0031654 (27%) |species == Worm; gene == C09H5.2b; score == 297; expect == 1.2e-80; MEOW:CEgn0031655 (27%) |species == ecoli; score == 151; expect == 3.1e-37; MEOW:ref|NP_418663.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000490 CHR 1 12 DID 1 LocusLink:490 MAP 1 12q21-q23 NAM 1 ATPase, Ca++ transporting, plasma membrane 1 ORG 1 Homo sapiens SYM 1 ATP2B1 ID|HUgn0000490 DID|LocusLink:490 ORG|Homo sapiens RSQ|REFSEQ:NM_001682 RPA|REFPROT:NP_001673 DBA|XM:NM_001682 |NA:L14561 |NA:J04027 |NA:M95541 |NA:M95542 |NA:none PAC|XP:NP_001673 SYM|ATP2B1 NAM|ATPase, Ca++ transporting, plasma membrane 1 SYN|PMCA1 FNC|ATPase, Ca++ transporting, plasma membrane 1 |cation transport ; GO:0006812 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=20952 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=490[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127283 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001682 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001682 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.20952 |OMIM:108731 |SNP:490 ENZ|EC:3.6.1.38 |ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calmodulin binding ; GO:0005516 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|12q21-q23 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 2040; expect == 0.0; MEOW:ref|NP_445763.1| (97%) |species == Mouse; gene == Atp2b2; score == 1822; expect == 0.0; MEOW:MGgn0000599 (80%) |species == rat; score == 1818; expect == 0.0; MEOW:ref|NP_036640.1| (80%) |species == Human; gene == ATP2B2; score == 1813; expect == 0.0; MEOW:HUgn0000491 (80%) |species == Human; gene == ATP2B4; score == 1740; expect == 0.0; MEOW:HUgn0000493 (77%) |species == Human; gene == ATP2B3; score == 1699; expect == 0.0; MEOW:HUgn0000492 (80%) |species == rat; score == 1697; expect == 0.0; MEOW:ref|XP_343840.1| (79%) |species == Mouse; gene == Atp2b3; score == 1695; expect == 0.0; MEOW:MGgn0000600 (80%) |species == Worm; gene == mca-3; score == 1269; expect == 0.0; MEOW:CEgn0001925 (61%) |species == Fruitfly; gene == CG2165; score == 1228; expect == 0.0; MEOW:FBgn0025704 (63%) |species == Mosquito; gene == LOC16693; score == 1186; expect == 0.0; MEOW:AGgn0016693 (62%) |species == Worm; gene == R05C11.3; score == 1169; expect == 0.0; MEOW:CEgn0021866 (57%) |species == Worm; gene == mca-1; score == 1113; expect == 0.0; MEOW:CEgn0001923 (54%) |species == Weed; gene == At3g57330; score == 632; expect == 0.0; MEOW:ATgn0016555 (40%) |species == Weed; gene == At2g22950; score == 631; expect == 0.0; MEOW:ATgn0007357 (40%) |species == Weed; gene == At4g37640; score == 627; expect == 1e-179; MEOW:ATgn0019350 (40%) |species == rice; score == 627; expect == 8e-180; MEOW:gnl|TIGR|8359.m03771 (40%) |species == rice; score == 622; expect == 3e-178; MEOW:gnl|TIGR|8360.m00908 (40%) |species == Weed; gene == At1g27770; score == 613; expect == 1e-175; MEOW:ATgn0002476 (40%) |species == Weed; gene == At2g41560; score == 595; expect == 3e-170; MEOW:ATgn0007529 (39%) |species == rice; score == 585; expect == 7e-167; MEOW:gnl|TIGR|8360.m03759 (38%) |species == rice; score == 582; expect == 1e-165; MEOW:gnl|TIGR|8352.m04779 (38%) |species == rice; score == 558; expect == 7e-159; MEOW:gnl|TIGR|8358.m00345 (39%) |species == rice; score == 557; expect == 2e-158; MEOW:gnl|TIGR|8359.m00320 (39%) |species == rice; score == 545; expect == 4e-155; MEOW:gnl|TIGR|8353.m03699 (38%) |species == Weed; gene == At5g57110; score == 523; expect == 2e-148; MEOW:ATgn0023342 (45%) |species == rice; score == 503; expect == 2e-142; MEOW:gnl|TIGR|8356.m03932 (37%) |species == Yeast; gene == PMC1; score == 337; expect == 6.9e-93; MEOW:SGgn0002974 (39%) |species == Yeast; gene == PMR1; score == 301; expect == 4.2e-82; MEOW:SGgn0003135 (27%) |species == Zfish; gene == atp1a1a.2; score == 231; expect == 9.7e-62; MEOW:ZFgn0002002 (30%) |species == Zfish; gene == atp1a1b; score == 229; expect == 2.8e-61; MEOW:ZFgn0001991 (32%) |species == Zfish; gene == atp1a3b; score == 227; expect == 1.4e-60; MEOW:ZFgn0002005 (31%) |species == Zfish; gene == atp1a1a.4; score == 225; expect == 5.3e-60; MEOW:ZFgn0001990 (31%) |species == Zfish; gene == atp1a3a; score == 224; expect == 9.0e-60; MEOW:ZFgn0001992 (30%) |species == Zfish; gene == atp1a1a.3; score == 222; expect == 4.5e-59; MEOW:ZFgn0002003 (31%) |species == Zfish; gene == atp1a1a.1; score == 221; expect == 1.3e-58; MEOW:ZFgn0001995 (31%) |species == Zfish; gene == atp1a2a; score == 221; expect == 1.0e-58; MEOW:ZFgn0002004 (33%) } # EOR GENR { RETE|ID 1 HUgn0000491 CHR 1 3 DID 1 LocusLink:491 MAP 1 3p26-p25 NAM 1 ATPase, Ca++ transporting, plasma membrane 2 ORG 1 Homo sapiens SYM 1 ATP2B2 ID|HUgn0000491 DID|LocusLink:491 ORG|Homo sapiens RSQ|REFSEQ:NM_001683 RPA|REFPROT:NP_001674 DBA|XM:NM_001683 |NA:L00620 |NA:L20977 |NA:M97260 |NA:U15688 |NA:none PAC|XP:NP_001674 SYM|ATP2B2 NAM|ATPase, Ca++ transporting, plasma membrane 2 SYN|PMCA2 FNC|ATPase, Ca++ transporting, plasma membrane 2 |cation transport ; GO:0006812 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89512 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=491[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132584 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001683 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001683 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.89512 |OMIM:108733 |SNP:491 MAP|3p26-p25 ENZ|ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calmodulin binding ; GO:0005516 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 2095; expect == 0.0; MEOW:ref|NP_036640.1| (98%) |species == Mouse; gene == Atp2b2; score == 2094; expect == 0.0; MEOW:MGgn0000599 (98%) |species == Human; gene == ATP2B1; score == 1813; expect == 0.0; MEOW:HUgn0000490 (80%) |species == rat; score == 1723; expect == 0.0; MEOW:ref|XP_343840.1| (84%) |species == Human; gene == ATP2B3; score == 1720; expect == 0.0; MEOW:HUgn0000492 (82%) |species == Mouse; gene == Atp2b3; score == 1715; expect == 0.0; MEOW:MGgn0000600 (83%) |species == rat; score == 1700; expect == 0.0; MEOW:ref|NP_445763.1| (79%) |species == Human; gene == ATP2B4; score == 1694; expect == 0.0; MEOW:HUgn0000493 (76%) |species == Worm; gene == mca-3; score == 1258; expect == 0.0; MEOW:CEgn0001925 (61%) |species == Fruitfly; gene == CG2165; score == 1216; expect == 0.0; MEOW:FBgn0025704 (63%) |species == Worm; gene == R05C11.3; score == 1174; expect == 0.0; MEOW:CEgn0021866 (59%) |species == Mosquito; gene == LOC16693; score == 1148; expect == 0.0; MEOW:AGgn0016693 (62%) |species == Worm; gene == mca-1; score == 1124; expect == 0.0; MEOW:CEgn0001923 (54%) |species == Weed; gene == At3g57330; score == 661; expect == 0.0; MEOW:ATgn0016555 (40%) |species == Weed; gene == At2g41560; score == 647; expect == 0.0; MEOW:ATgn0007529 (39%) |species == rice; score == 641; expect == 0.0; MEOW:gnl|TIGR|8360.m00908 (41%) |species == rice; score == 637; expect == 0.0; MEOW:gnl|TIGR|8359.m03771 (40%) |species == Weed; gene == At2g22950; score == 636; expect == 0.0; MEOW:ATgn0007357 (41%) |species == Weed; gene == At4g37640; score == 634; expect == 0.0; MEOW:ATgn0019350 (40%) |species == Weed; gene == At1g27770; score == 632; expect == 0.0; MEOW:ATgn0002476 (41%) |species == Weed; gene == At5g57110; score == 618; expect == 7e-177; MEOW:ATgn0023342 (40%) |species == rice; score == 607; expect == 3e-173; MEOW:gnl|TIGR|8358.m00345 (39%) |species == rice; score == 602; expect == 1e-171; MEOW:gnl|TIGR|8359.m00320 (39%) |species == rice; score == 601; expect == 1e-171; MEOW:gnl|TIGR|8360.m03759 (39%) |species == Weed; gene == At4g29900; score == 592; expect == 6e-169; MEOW:ATgn0017395 (39%) |species == Weed; gene == At3g21180; score == 586; expect == 2e-167; MEOW:ATgn0013353 (39%) |species == Weed; gene == At3g63380; score == 582; expect == 5e-166; MEOW:ATgn0015517 (37%) |species == rice; score == 576; expect == 5e-164; MEOW:gnl|TIGR|8353.m03699 (38%) |species == rice; score == 572; expect == 5e-163; MEOW:gnl|TIGR|8356.m03932 (40%) |species == rice; score == 565; expect == 9e-161; MEOW:gnl|TIGR|8352.m04779 (38%) |species == Weed; gene == At3g22910; score == 553; expect == 3e-157; MEOW:ATgn0014811 (36%) |species == rice; score == 518; expect == 2e-146; MEOW:gnl|TIGR|8362.m02098 (37%) |species == Yeast; gene == PMC1; score == 483; expect == 6e-137; MEOW:SGgn0002974 (33%) |species == Zfish; gene == atp1a3b; score == 263; expect == 1.7e-71; MEOW:ZFgn0002005 (29%) |species == Zfish; gene == atp1a3a; score == 261; expect == 1.1e-70; MEOW:ZFgn0001992 (29%) |species == Zfish; gene == atp1a1a.2; score == 255; expect == 6.1e-69; MEOW:ZFgn0002002 (29%) |species == Zfish; gene == atp1a1b; score == 254; expect == 1.0e-68; MEOW:ZFgn0001991 (29%) |species == Zfish; gene == atp1a1a.4; score == 252; expect == 5.2e-68; MEOW:ZFgn0001990 (29%) |species == Zfish; gene == atp1a1a.3; score == 252; expect == 5.2e-68; MEOW:ZFgn0002003 (29%) |species == Zfish; gene == atp1a1a.1; score == 248; expect == 5.7e-67; MEOW:ZFgn0001995 (28%) |species == Zfish; gene == atp1a2a; score == 220; expect == 1.7e-58; MEOW:ZFgn0002004 (32%) |species == ecoli; score == 171; expect == 3.5e-43; MEOW:ref|NP_418663.1| (24%) } # EOR GENR { RETE|ID 1 HUgn0000492 CHR 1 X DID 1 LocusLink:492 MAP 1 Xq28 NAM 1 ATPase, Ca++ transporting, plasma membrane 3 ORG 1 Homo sapiens SYM 1 ATP2B3 ID|HUgn0000492 DID|LocusLink:492 ORG|Homo sapiens RSQ|REFSEQ:NM_021949 RPA|REFPROT:NP_068768 DBA|XM:NM_021949 |NA:U15689 |NA:U57971 |NA:U60414 |NA:none PAC|XP:NP_068768 SYM|ATP2B3 NAM|ATPase, Ca++ transporting, plasma membrane 3 SYN|PMCA3 FNC|ATPase, Ca++ transporting, plasma membrane 3 |cation transport ; GO:0006812 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=103124 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=492[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021949 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021949 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.103124 |OMIM:300014 |SNP:492 MAP|Xq28 ENZ|ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calmodulin binding ; GO:0005516 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 2060; expect == 0.0; MEOW:ref|XP_343840.1| (96%) |species == Mouse; gene == Atp2b3; score == 1971; expect == 0.0; MEOW:MGgn0000600 (98%) |species == rat; score == 1778; expect == 0.0; MEOW:ref|NP_445763.1| (79%) |species == Mouse; gene == Atp2b2; score == 1726; expect == 0.0; MEOW:MGgn0000599 (82%) |species == rat; score == 1724; expect == 0.0; MEOW:ref|NP_036640.1| (82%) |species == Human; gene == ATP2B2; score == 1720; expect == 0.0; MEOW:HUgn0000491 (82%) |species == Human; gene == ATP2B1; score == 1699; expect == 0.0; MEOW:HUgn0000490 (80%) |species == Human; gene == ATP2B4; score == 1686; expect == 0.0; MEOW:HUgn0000493 (79%) |species == Worm; gene == mca-3; score == 1302; expect == 0.0; MEOW:CEgn0001925 (62%) |species == Fruitfly; gene == CG2165; score == 1239; expect == 0.0; MEOW:FBgn0025704 (64%) |species == Worm; gene == R05C11.3; score == 1199; expect == 0.0; MEOW:CEgn0021866 (57%) |species == Mosquito; gene == LOC16693; score == 1192; expect == 0.0; MEOW:AGgn0016693 (62%) |species == Worm; gene == mca-1; score == 1125; expect == 0.0; MEOW:CEgn0001923 (54%) |species == Weed; gene == At3g57330; score == 659; expect == 0.0; MEOW:ATgn0016555 (40%) |species == Weed; gene == At2g41560; score == 651; expect == 0.0; MEOW:ATgn0007529 (40%) |species == Weed; gene == At4g37640; score == 637; expect == 0.0; MEOW:ATgn0019350 (40%) |species == Weed; gene == At2g22950; score == 634; expect == 0.0; MEOW:ATgn0007357 (40%) |species == rice; score == 630; expect == 2e-180; MEOW:gnl|TIGR|8359.m03771 (39%) |species == rice; score == 624; expect == 9e-179; MEOW:gnl|TIGR|8360.m00908 (39%) |species == Weed; gene == At1g27770; score == 610; expect == 1e-174; MEOW:ATgn0002476 (39%) |species == rice; score == 603; expect == 3e-172; MEOW:gnl|TIGR|8360.m03759 (39%) |species == rice; score == 592; expect == 4e-169; MEOW:gnl|TIGR|8358.m00345 (39%) |species == rice; score == 589; expect == 3e-168; MEOW:gnl|TIGR|8359.m00320 (38%) |species == Weed; gene == At3g63380; score == 567; expect == 1e-161; MEOW:ATgn0015517 (36%) |species == rice; score == 567; expect == 4e-161; MEOW:gnl|TIGR|8352.m04779 (37%) |species == rice; score == 546; expect == 2e-155; MEOW:gnl|TIGR|8353.m03699 (37%) |species == rice; score == 520; expect == 1e-147; MEOW:gnl|TIGR|8356.m03932 (38%) |species == Yeast; gene == PMC1; score == 336; expect == 1.1e-92; MEOW:SGgn0002974 (40%) |species == Yeast; gene == PMR1; score == 278; expect == 3.7e-75; MEOW:SGgn0003135 (30%) |species == Zfish; gene == atp1a1b; score == 240; expect == 2.6e-64; MEOW:ZFgn0001991 (31%) |species == Zfish; gene == atp1a1a.2; score == 236; expect == 2.9e-63; MEOW:ZFgn0002002 (30%) |species == Zfish; gene == atp1a1a.4; score == 235; expect == 8.4e-63; MEOW:ZFgn0001990 (31%) |species == Zfish; gene == atp1a1a.3; score == 231; expect == 9.3e-62; MEOW:ZFgn0002003 (32%) |species == Zfish; gene == atp1a2a; score == 231; expect == 9.3e-62; MEOW:ZFgn0002004 (31%) |species == Zfish; gene == atp1a3b; score == 231; expect == 7.1e-62; MEOW:ZFgn0002005 (31%) |species == Zfish; gene == atp1a1a.1; score == 230; expect == 2.1e-61; MEOW:ZFgn0001995 (30%) |species == Zfish; gene == atp1a3a; score == 229; expect == 4.6e-61; MEOW:ZFgn0001992 (30%) |species == ecoli; score == 138; expect == 2.4e-33; MEOW:ref|NP_418663.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000493 CHR 1 1 DID 1 LocusLink:493 MAP 1 1q25-q32 NAM 1 ATPase, Ca++ transporting, plasma membrane 4 ORG 1 Homo sapiens SYM 1 ATP2B4 ID|HUgn0000493 DID|LocusLink:493 ORG|Homo sapiens RSQ|REFSEQ:NM_001684 RPA|REFPROT:NP_001675 DBA|XM:NM_001684 |NA:BX537444 |NA:M25874 |NA:M83363 |NA:none PAC|XP:NP_001675 SYM|ATP2B4 NAM|ATPase, Ca++ transporting, plasma membrane 4 SYN|PMCA4 |ATP2B2 FNC|ATPase, Ca++ transporting, plasma membrane 4 |cation transport ; GO:0006812 |transport ; GO:0006810 |calcium ion transport ; GO:0006816 |metabolism ; GO:0008152 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=343522 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=493[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127284 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001684 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001684 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25110 DBL|UNIGENE:Hs.343522 |OMIM:108732 |SNP:493 ENZ|EC:3.6.1.38 |ATP binding ; GO:0005524 |calcium-transporting ATPase activity ; GO:0005388 |calmodulin binding ; GO:0005516 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|1q25-q32 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1844; expect == 0.0; MEOW:ref|XP_341123.1| (82%) |species == Human; gene == ATP2B1; score == 1740; expect == 0.0; MEOW:HUgn0000490 (77%) |species == rat; score == 1707; expect == 0.0; MEOW:ref|NP_445763.1| (78%) |species == Mouse; gene == Atp2b2; score == 1700; expect == 0.0; MEOW:MGgn0000599 (76%) |species == rat; score == 1697; expect == 0.0; MEOW:ref|NP_036640.1| (76%) |species == Human; gene == ATP2B2; score == 1694; expect == 0.0; MEOW:HUgn0000491 (76%) |species == Human; gene == ATP2B3; score == 1686; expect == 0.0; MEOW:HUgn0000492 (79%) |species == rat; score == 1682; expect == 0.0; MEOW:ref|XP_343840.1| (78%) |species == Mouse; gene == Atp2b3; score == 1678; expect == 0.0; MEOW:MGgn0000600 (79%) |species == Worm; gene == mca-3; score == 1290; expect == 0.0; MEOW:CEgn0001925 (61%) |species == Fruitfly; gene == CG2165; score == 1220; expect == 0.0; MEOW:FBgn0025704 (63%) |species == Worm; gene == R05C11.3; score == 1183; expect == 0.0; MEOW:CEgn0021866 (58%) |species == Mosquito; gene == LOC16693; score == 1175; expect == 0.0; MEOW:AGgn0016693 (61%) |species == Worm; gene == mca-1; score == 1131; expect == 0.0; MEOW:CEgn0001923 (54%) |species == Weed; gene == At5g57110; score == 655; expect == 0.0; MEOW:ATgn0023342 (40%) |species == rice; score == 650; expect == 0.0; MEOW:gnl|TIGR|8359.m03771 (40%) |species == Weed; gene == At3g57330; score == 642; expect == 0.0; MEOW:ATgn0016555 (40%) |species == Weed; gene == At2g41560; score == 640; expect == 0.0; MEOW:ATgn0007529 (40%) |species == Weed; gene == At2g22950; score == 638; expect == 0.0; MEOW:ATgn0007357 (39%) |species == Weed; gene == At1g27770; score == 631; expect == 0.0; MEOW:ATgn0002476 (39%) |species == rice; score == 630; expect == 0.0; MEOW:gnl|TIGR|8360.m00908 (41%) |species == Weed; gene == At4g37640; score == 627; expect == 9e-180; MEOW:ATgn0019350 (39%) |species == rice; score == 623; expect == 5e-178; MEOW:gnl|TIGR|8358.m00345 (39%) |species == rice; score == 622; expect == 1e-177; MEOW:gnl|TIGR|8359.m00320 (39%) |species == Weed; gene == At4g29900; score == 612; expect == 3e-175; MEOW:ATgn0017395 (38%) |species == rice; score == 609; expect == 1e-173; MEOW:gnl|TIGR|8360.m03759 (39%) |species == Weed; gene == At3g21180; score == 607; expect == 2e-173; MEOW:ATgn0013353 (38%) |species == rice; score == 606; expect == 5e-173; MEOW:gnl|TIGR|8353.m03699 (37%) |species == Weed; gene == At3g63380; score == 592; expect == 4e-169; MEOW:ATgn0015517 (37%) |species == rice; score == 589; expect == 8e-168; MEOW:gnl|TIGR|8352.m04779 (38%) |species == rice; score == 560; expect == 4e-159; MEOW:gnl|TIGR|8356.m03932 (37%) |species == rice; score == 531; expect == 3e-150; MEOW:gnl|TIGR|8362.m02098 (35%) |species == rice; score == 527; expect == 3e-149; MEOW:gnl|TIGR|8351.m05675 (35%) |species == Yeast; gene == PMC1; score == 505; expect == 2e-143; MEOW:SGgn0002974 (34%) |species == Zfish; gene == atp1a1b; score == 241; expect == 9.2e-65; MEOW:ZFgn0001991 (31%) |species == Zfish; gene == atp1a1a.2; score == 241; expect == 1.2e-64; MEOW:ZFgn0002002 (31%) |species == Zfish; gene == atp1a1a.4; score == 239; expect == 3.5e-64; MEOW:ZFgn0001990 (32%) |species == Zfish; gene == atp1a1a.1; score == 238; expect == 7.8e-64; MEOW:ZFgn0001995 (30%) |species == Zfish; gene == atp1a1a.3; score == 237; expect == 1.3e-63; MEOW:ZFgn0002003 (32%) |species == Zfish; gene == atp1a3b; score == 226; expect == 2.3e-60; MEOW:ZFgn0002005 (30%) |species == Zfish; gene == atp1a3a; score == 224; expect == 8.9e-60; MEOW:ZFgn0001992 (29%) |species == Zfish; gene == atp1a2a; score == 223; expect == 2.0e-59; MEOW:ZFgn0002004 (31%) } # EOR GENR { RETE|ID 1 HUgn0000494 DID 1 LocusLink:494 NAM 1 ATPase, Mg++ transporting ORG 1 Homo sapiens SYM 1 ATP3 ID|HUgn0000494 DID|LocusLink:494 ORG|Homo sapiens SYM|ATP3 NAM|ATPase, Mg++ transporting URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118757 } # EOR GENR { RETE|ID 1 HUgn0000495 CHR 1 19 DID 1 LocusLink:495 MAP 1 19q13.1 NAM 1 ATPase, H+/K+ exchanging, alpha polypeptide ORG 1 Homo sapiens SYM 1 ATP4A ID|HUgn0000495 DID|LocusLink:495 ORG|Homo sapiens RSQ|REFSEQ:NM_000704 RPA|REFPROT:NP_000695 DBA|XM:NM_000704 |NA:AD000090 |NA:J05451 |NA:M63962 |NA:AK058032 |NA:AL832971 |NA:none PAC|XP:NP_000695 SYM|ATP4A NAM|ATPase, H+/K+ exchanging, alpha polypeptide SYN|ATP6A FNC|ATPase, H+/K+ exchanging, alpha polypeptide |proton transport ; GO:0015992 |potassium ion transport ; GO:0006813 |transport ; GO:0006810 |metabolism ; GO:0008152 CHR|19 PRD|ATPase, H+, K+ transporting, alpha |ATPase, H+/K+ transporting, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36992 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=495[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125183 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000704 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000704 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.36992 |OMIM:137216 |SNP:495 ENZ|EC:3.6.1.36 |hydrogen/potassium-exchanging ATPase activity ; GO:0008900 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|19q13.1 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Atp4a; score == 1944; expect == 0.0; MEOW:MGgn0000603 (96%) |species == rat; score == 1932; expect == 0.0; MEOW:ref|XP_341835.1| (96%) |species == Zfish; gene == atp1a3b; score == 1302; expect == 0.0; MEOW:ZFgn0002005 (65%) |species == Human; gene == ATP1A3; score == 1300; expect == 0.0; MEOW:HUgn0000478 (65%) |species == Human; gene == ATP12A; score == 1293; expect == 0.0; MEOW:HUgn0000479 (65%) |species == Zfish; gene == atp1a3a; score == 1288; expect == 0.0; MEOW:ZFgn0001992 (65%) |species == Human; gene == ATP1A1; score == 1285; expect == 0.0; MEOW:HUgn0000476 (64%) |species == Human; gene == ATP1A2; score == 1282; expect == 0.0; MEOW:HUgn0000477 (62%) |species == Zfish; gene == atp1a1a.1; score == 1272; expect == 0.0; MEOW:ZFgn0001995 (63%) |species == Zfish; gene == atp1a1b; score == 1265; expect == 0.0; MEOW:ZFgn0001991 (63%) |species == Zfish; gene == atp1a1a.4; score == 1264; expect == 0.0; MEOW:ZFgn0001990 (63%) |species == Zfish; gene == atp1a2a; score == 1264; expect == 0.0; MEOW:ZFgn0002004 (63%) |species == Zfish; gene == atp1a1a.3; score == 1253; expect == 0.0; MEOW:ZFgn0002003 (62%) |species == Zfish; gene == atp1a1a.2; score == 1228; expect == 0.0; MEOW:ZFgn0002002 (62%) |species == Human; gene == ATP1A4; score == 1214; expect == 0.0; MEOW:HUgn0000480 (61%) |species == Mosquito; gene == LOC16876; score == 1213; expect == 0.0; MEOW:AGgn0016876 (62%) |species == Mosquito; gene == LOC22526; score == 1213; expect == 0.0; MEOW:AGgn0022526 (62%) |species == Mosquito; gene == LOC24378; score == 1213; expect == 0.0; MEOW:AGgn0024378 (62%) |species == Fruitfly; gene == Atp&agr;; score == 1212; expect == 0.0; MEOW:FBgn0002921 (62%) |species == Worm; gene == eat-6; score == 1160; expect == 0.0; MEOW:CEgn0000460 (59%) |species == Mosquito; score == 1113; expect == 0.0; MEOW:AGgn0029230 (64%) |species == Yeast; gene == PMR1; score == 370; expect == 8e-103; MEOW:SGgn0003135 (30%) |species == Weed; gene == At1g07810; score == 369; expect == 4e-102; MEOW:ATgn0001937 (29%) |species == rice; score == 355; expect == 2.2e-97; MEOW:gnl|TIGR|8353.m00193 (29%) |species == Weed; gene == At1g10130; score == 345; expect == 5.9e-95; MEOW:ATgn0004091 (28%) |species == rice; score == 343; expect == 3.0e-94; MEOW:gnl|TIGR|8360.m01572 (28%) |species == Weed; gene == At4g00900; score == 342; expect == 5.0e-94; MEOW:ATgn0020287 (27%) |species == Weed; gene == At2g41560; score == 305; expect == 8.8e-83; MEOW:ATgn0007529 (29%) |species == Weed; gene == At3g57330; score == 305; expect == 6.7e-83; MEOW:ATgn0016555 (27%) |species == Yeast; gene == ENA5; score == 297; expect == 2.6e-80; MEOW:SGgn0002445 (28%) |species == Yeast; gene == ENA2; score == 297; expect == 2.6e-80; MEOW:SGgn0002446 (28%) |species == ecoli; score == 250; expect == 2.9e-66; MEOW:ref|NP_418663.1| (30%) } # EOR GENR { RETE|ID 1 HUgn0000496 CHR 1 13 DID 1 LocusLink:496 MAP 1 13q34 NAM 1 ATPase, H+/K+ exchanging, beta polypeptide ORG 1 Homo sapiens SYM 1 ATP4B ID|HUgn0000496 DID|LocusLink:496 ORG|Homo sapiens RSQ|REFSEQ:NM_000705 RPA|REFPROT:NP_000696 DBA|XM:NM_000705 |NA:AB008783 |NA:BC029059 |NA:BC042846 |NA:M75110 |NA:none PAC|XP:NP_000696 SYM|ATP4B NAM|ATPase, H+/K+ exchanging, beta polypeptide SYN|ATP6B FNC|ATPase, H+/K+ exchanging, beta polypeptide |sodium ion transport ; GO:0006814 |proton transport ; GO:0015992 |potassium ion transport ; GO:0006813 REAB|Hydrogen-potassium adenosine triphosphatase (H(+),K(+)-ATPase) belongs to a family |of P-type cation-transporting ATPases. H(+),K(+)-ATPase is a heterodimer consisting |of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated |beta subunit. CHR|13 PRD|ATPase, H+, K+ transporting, beta |ATPase, H+/K+ transporting, beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=496[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136045 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000705 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000705 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434202 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.434202 |OMIM:137217 |SNP:496 ENZ|EC:3.6.1.36 |hydrogen/potassium-exchanging ATPase activity ; GO:0008900 |sodium/potassium-exchanging ATPase activity ; GO:0005391 MAP|13q34 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Atp4b; score == 534; expect == 1e-152; MEOW:MGgn0000604 (82%) |species == rat; score == 528; expect == 1e-150; MEOW:ref|NP_036642.2| (81%) |species == Zfish; gene == atp1b2b; score == 238; expect == 2.0e-64; MEOW:ZFgn0002291 (42%) |species == Human; gene == ATP1B2; score == 228; expect == 3.8e-60; MEOW:HUgn0000482 (38%) |species == Zfish; gene == atp1b2a; score == 227; expect == 2.7e-61; MEOW:ZFgn0001981 (41%) |species == Human; gene == ATP1B4; score == 189; expect == 1.5e-48; MEOW:HUgn0023439 (35%) } # EOR GENR { RETE|ID 1 HUgn0000498 CHR 1 18 DID 1 LocusLink:498 MAP 1 18q12-q21 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle ORG 1 Homo sapiens SYM 1 ATP5A1 ID|HUgn0000498 DID|LocusLink:498 ORG|Homo sapiens RSQ|REFSEQ:NM_004046 RPA|REFPROT:NP_004037 DBA|XM:NM_004046 |NA:D28126 |NA:AK092735 |NA:AK098765 |NA:AK129739 |NA:AK129900 |NA:BC003119 |NA:BC007299 |NA:BC008028 |NA:BC011384 |NA:BC016046 |NA:BC019310 |NA:BC028335 |NA:BC035703 |NA:BC039135 |NA:BC042694 |NA:BT007209 |NA:D14710 |NA:X59066 |NA:X65460 |NA:none PAC|XP:NP_004037 SYM|ATP5A1 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle SYN|OMR |ORM |ATPM |ATP5A |hATP1 FNC|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298280 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=498[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004046 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004046 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=298280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.298280 |OMIM:164360 |SNP:498 ENZ|EC:3.6.1.34 |ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |ATP binding ; GO:0005524 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|18q12-q21 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == rat; score == 1007; expect == 0.0; MEOW:ref|XP_341632.1| (96%) |species == Mouse; gene == Atp5a1; score == 1006; expect == 0.0; MEOW:MGgn0000605 (97%) |species == Mosquito; gene == LOC24604; score == 898; expect == 0.0; MEOW:AGgn0024604 (83%) |species == Fruitfly; gene == blw; score == 870; expect == 0.0; MEOW:FBgn0011211 (81%) |species == Worm; gene == H28O16.1a; score == 840; expect == 0.0; MEOW:CEgn0034117 (84%) |species == Worm; gene == H28O16.1c; score == 761; expect == 0.0; MEOW:CEgn0034119 (77%) |species == Yeast; gene == ATP1; score == 738; expect == 0.0; MEOW:SGgn0000195 (73%) |species == Weed; gene == At2g07698; score == 671; expect == 0.0; MEOW:ATgn0028106 (68%) |species == rice; score == 665; expect == 0.0; MEOW:gnl|TIGR|8357.m00649 (73%) |species == rice; score == 555; expect == 4e-158; MEOW:gnl|TIGR|8362.m03062 (58%) |species == rice; score == 548; expect == 5e-156; MEOW:gnl|TIGR|8362.m01562 (57%) |species == ecoli; score == 541; expect == 6e-155; MEOW:ref|NP_418190.1| (56%) |species == Human; gene == LOC376965; score == 148; expect == 5.2e-37; MEOW:HUgn0376965 (89%) } # EOR GENR { RETE|ID 1 HUgn0000499 DID 1 LocusLink:499 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle ORG 1 Homo sapiens SYM 1 ATP5A2 ID|HUgn0000499 DID|LocusLink:499 ORG|Homo sapiens SYM|ATP5A2 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:137186 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 } # EOR GENR { RETE|ID 1 HUgn0000500 CHR 1 9 DID 1 LocusLink:500 MAP 1 9 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1 ORG 1 Homo sapiens SYM 1 ATP5AL1 ID|HUgn0000500 DID|LocusLink:500 ORG|Homo sapiens SYM|ATP5AL1 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1 CHR|9 MAP|9 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:434302 } # EOR GENR { RETE|ID 1 HUgn0000501 CHR 1 5 DID 1 LocusLink:501 MAP 1 5q31 NAM 1 aldehyde dehydrogenase 7 family, member A1 ORG 1 Homo sapiens SYM 1 ALDH7A1 ID|HUgn0000501 DID|LocusLink:501 ORG|Homo sapiens RSQ|REFSEQ:NM_001182 RPA|REFPROT:NP_001173 DBA|XM:NM_001182 |NA:BC002515 |NA:S74728 |NA:none PAC|XP:NP_001173 SYM|ALDH7A1 NAM|aldehyde dehydrogenase 7 family, member A1 SYN|ATQ1 FNC|antiquitin |aldehyde metabolism ; GO:0006081 |hearing ; GO:0007605 REAB|Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. |These enzymes are thought to play a major role in the detoxification of aldehydes |generated by alcohol metabolism and lipid peroxidation. This particular member has |homology to a previously described protein from the green garden pea, the 26g pea |turgor protein. Four human antiquitin-like sequences, possibly pseudogenes, have |also been identified. CHR|5 PRD|antiquitin 1 |aldehyde dehydrogenase 7A1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=312102 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=501[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001182 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001182 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=312102 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00626 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.312102 |OMIM:107323 |SNP:501 ENZ|EC:1.2.1.- |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |oxidoreductase activity ; GO:0016491 MAP|5q31 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Aldh7a1; score == 941; expect == 0.0; MEOW:MGgn0000645 (88%) |species == rat; score == 916; expect == 0.0; MEOW:ref|XP_214535.2| (87%) |species == Weed; gene == At1g54100; score == 629; expect == 2e-180; MEOW:ATgn0006831 (59%) |species == Fruitfly; gene == CG9629; score == 619; expect == 7e-178; MEOW:FBgn0036857 (57%) |species == Mosquito; score == 606; expect == 1e-173; MEOW:AGgn0017723 (58%) |species == rice; score == 570; expect == 1e-162; MEOW:gnl|TIGR|8357.m02317 (55%) |species == ecoli; score == 230; expect == 1.5e-61; MEOW:ref|NP_417147.1| (30%) |species == Human; gene == ALDH1B1; score == 215; expect == 5.4e-56; MEOW:HUgn0000219 (31%) |species == Human; gene == ALDH1A2; score == 215; expect == 4.1e-56; MEOW:HUgn0008854 (30%) |species == Human; gene == FLJ38508; score == 214; expect == 7.0e-56; MEOW:HUgn0160428 (28%) |species == Zfish; gene == aldh1a2; score == 214; expect == 6.2e-57; MEOW:ZFgn0002332 (31%) |species == Human; gene == ALDH1A3; score == 206; expect == 2.5e-53; MEOW:HUgn0000220 (29%) |species == Human; gene == ALDH1A1; score == 205; expect == 4.3e-53; MEOW:HUgn0000216 (29%) |species == ecoli; score == 203; expect == 3.2e-53; MEOW:ref|NP_414846.1| (29%) |species == ecoli; score == 202; expect == 5.5e-53; MEOW:ref|NP_415961.1| (29%) |species == Yeast; gene == ALD6; score == 201; expect == 1.7e-52; MEOW:SGgn0005982 (29%) |species == ecoli; score == 199; expect == 4.7e-52; MEOW:ref|NP_415933.1| (29%) |species == Human; gene == FTHFD; score == 198; expect == 6.8e-51; MEOW:HUgn0010840 (28%) |species == Human; gene == ALDH2; score == 195; expect == 5.8e-50; MEOW:HUgn0000217 (30%) |species == Yeast; gene == ALD4; score == 192; expect == 1.0e-49; MEOW:SGgn0005901 (26%) |species == Worm; gene == alh-11; score == 191; expect == 4.4e-49; MEOW:CEgn0030752 (28%) |species == Human; gene == ALDH9A1; score == 188; expect == 9.2e-48; MEOW:HUgn0000223 (27%) |species == Yeast; gene == ALD5; score == 185; expect == 1.7e-47; MEOW:SGgn0000875 (27%) |species == Human; gene == ALDH8A1; score == 184; expect == 1.3e-46; MEOW:HUgn0064577 (27%) |species == Yeast; gene == UGA2; score == 182; expect == 1.1e-46; MEOW:SGgn0000210 (28%) |species == Worm; gene == alh-12; score == 166; expect == 2.6e-41; MEOW:CEgn0030753 (28%) |species == Yeast; gene == ALD2; score == 166; expect == 8.0e-42; MEOW:SGgn0004780 (27%) |species == Worm; gene == alh-1; score == 158; expect == 5.4e-39; MEOW:CEgn0030742 (28%) } # EOR GENR { RETE|ID 1 HUgn0000502 CHR 1 18 DID 1 LocusLink:502 MAP 1 18 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2 ORG 1 Homo sapiens SYM 1 ATP5AL2 ID|HUgn0000502 DID|LocusLink:502 ORG|Homo sapiens SYM|ATP5AL2 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:407610 } # EOR GENR { RETE|ID 1 HUgn0000503 DID 1 LocusLink:503 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1 ORG 1 Homo sapiens SYM 1 ATP5AP1 ID|HUgn0000503 DID|LocusLink:503 CLA|Pseudogene ORG|Homo sapiens SYM|ATP5AP1 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6175922 } # EOR GENR { RETE|ID 1 HUgn0000504 DID 1 LocusLink:504 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 ORG 1 Homo sapiens SYM 1 ATP5AP2 ID|HUgn0000504 DID|LocusLink:504 CLA|Pseudogene ORG|Homo sapiens SYM|ATP5AP2 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6175924 } # EOR GENR { RETE|ID 1 HUgn0000505 DID 1 LocusLink:505 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3 ORG 1 Homo sapiens SYM 1 ATP5AP3 ID|HUgn0000505 DID|LocusLink:505 CLA|Pseudogene ORG|Homo sapiens SYM|ATP5AP3 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6175925 } # EOR GENR { RETE|ID 1 HUgn0000506 CHR 1 12 DID 1 LocusLink:506 MAP 1 12p13-qter NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide ORG 1 Homo sapiens SYM 1 ATP5B ID|HUgn0000506 DID|LocusLink:506 ORG|Homo sapiens RSQ|REFSEQ:NM_001686 RPA|REFPROT:NP_001677 DBA|XM:NM_001686 |NA:M27132 |NA:AK130793 |NA:BC016512 |NA:D00022 |NA:none PAC|XP:NP_001677 SYM|ATP5B NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide SYN|ATPMB |ATPSB FNC|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide |ATP synthesis coupled proton transport ; GO:0015986 |proton transport ; GO:0015992 |energy pathways ; GO:0006091 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406510 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=506[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119718 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001686 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001686 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406510 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=506 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.406510 |OMIM:102910 |SNP:506 ENZ|EC:3.6.1.34 |ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 |hydrogen-transporting ATP synthase activity, rotational mechanism ; GO:0046933 MAP|12p13-qter CEL|proton-transporting ATP synthase, catalytic core (sensu Eukarya) ; GO:0005754 |proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Atp5b; score == 907; expect == 0.0; MEOW:MGgn0000606 (95%) |species == rat; score == 906; expect == 0.0; MEOW:ref|XP_343137.1| (95%) |species == Mosquito; score == 801; expect == 0.0; MEOW:AGgn0016868 (89%) |species == Mosquito; gene == LOC24137; score == 800; expect == 0.0; MEOW:AGgn0024137 (89%) |species == Fruitfly; gene == ATPsyn-&bgr;; score == 800; expect == 0.0; MEOW:FBgn0010217 (89%) |species == Worm; gene == atp-2; score == 778; expect == 0.0; MEOW:CEgn0030532 (86%) |species == Yeast; gene == ATP2; score == 718; expect == 0.0; MEOW:SGgn0003882 (78%) |species == Weed; gene == At5g08670; score == 714; expect == 0.0; MEOW:ATgn0030421 (79%) |species == Weed; gene == At5g08680; score == 714; expect == 0.0; MEOW:ATgn0030422 (79%) |species == Weed; gene == At5g08690; score == 714; expect == 0.0; MEOW:ATgn0030423 (79%) |species == Mosquito; gene == LOC16863; score == 711; expect == 0.0; MEOW:AGgn0016863 (91%) |species == rice; score == 670; expect == 0.0; MEOW:gnl|TIGR|8353.m04243 (76%) |species == rice; score == 666; expect == 0.0; MEOW:gnl|TIGR|8350.m04537 (75%) |species == Fruitfly; gene == CG5389; score == 664; expect == 0.0; MEOW:FBgn0036568 (75%) |species == rice; score == 643; expect == 0.0; MEOW:gnl|TIGR|8362.m01568 (70%) |species == ecoli; score == 602; expect == 2e-173; MEOW:ref|NP_418188.1| (71%) |species == rice; score == 548; expect == 4e-156; MEOW:gnl|TIGR|8354.m03677 (67%) |species == rice; score == 546; expect == 1e-155; MEOW:gnl|TIGR|8353.m03122 (73%) |species == rice; score == 543; expect == 5e-155; MEOW:gnl|TIGR|8359.m00961 (70%) } # EOR GENR { RETE|ID 1 HUgn0000507 CHR 1 2 DID 1 LocusLink:507 MAP 1 2 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 ORG 1 Homo sapiens SYM 1 ATP5BL1 ID|HUgn0000507 DID|LocusLink:507 ORG|Homo sapiens SYM|ATP5BL1 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 SYN|ATPMBL1 |ATPSBL1 CHR|2 MAP|2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119719 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 } # EOR GENR { RETE|ID 1 HUgn0000508 CHR 1 17 DID 1 LocusLink:508 MAP 1 17 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 ORG 1 Homo sapiens SYM 1 ATP5BL2 ID|HUgn0000508 DID|LocusLink:508 ORG|Homo sapiens SYM|ATP5BL2 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 SYN|ATPSBL2 CHR|17 MAP|17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119720 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 } # EOR GENR { RETE|ID 1 HUgn0000509 CHR 1 10 DID 1 LocusLink:509 MAP 1 10q22-q23 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 ORG 1 Homo sapiens SYM 1 ATP5C1 ID|HUgn0000509 DID|LocusLink:509 ORG|Homo sapiens RSQ|REFSEQ:NM_005174 RPA|REFPROT:NP_005165 DBA|XM:NM_005174 |NA:D16561 |NA:AK129907 |NA:BC000470 |NA:BC000931 |NA:BC010380 |NA:BC013394 |NA:BC013865 |NA:BC016812 |NA:BC020824 |NA:BC026049 |NA:D16562 |NA:D16563 |NA:none PAC|XP:NP_005165 SYM|ATP5C1 NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 SYN|ATP5C |ATP5CL1 FNC|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 |proton transport ; GO:0015992 |energy pathways ; GO:0006091 |ATP biosynthesis ; GO:0006754 CHR|10 PRD|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155433 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=509[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137187 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005174 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005174 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155433 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.155433 |OMIM:108729 |SNP:509 ENZ|EC:3.6.1.34 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|10q22-q23 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |membrane ; GO:0016020 |mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Atp5c1; score == 532; expect == 5e-152; MEOW:MGgn0000608 (90%) |species == rat; score == 528; expect == 1e-150; MEOW:ref|XP_341556.1| (90%) |species == Human; gene == LOC341862; score == 496; expect == 8e-141; MEOW:HUgn0341862 (86%) |species == Mosquito; gene == LOC10167; score == 316; expect == 4.8e-87; MEOW:AGgn0010167 (56%) |species == Worm; gene == Y69A2AR.18a; score == 316; expect == 5.9e-87; MEOW:CEgn0029873 (57%) |species == Fruitfly; gene == ATPsyn-&ggr;; score == 312; expect == 1.6e-85; MEOW:FBgn0020235 (58%) |species == Yeast; gene == ATP3; score == 192; expect == 5.3e-50; MEOW:SGgn0000243 (39%) |species == Weed; gene == At2g33040; score == 176; expect == 1.1e-44; MEOW:ATgn0010320 (36%) } # EOR GENR { RETE|ID 1 HUgn0000513 CHR 1 19 DID 1 LocusLink:513 MAP 1 19p13.3 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit ORG 1 Homo sapiens SYM 1 ATP5D ID|HUgn0000513 DID|LocusLink:513 ORG|Homo sapiens RSQ|REFSEQ:NM_001687 RPA|REFPROT:NP_001678 DBA|XM:NM_001687 |NA:AC004221 |NA:BC002389 |NA:BC004426 |NA:BC018079 |NA:BC018817 |NA:BC050458 |NA:X63422 |NA:X63423 |NA:none PAC|XP:NP_001678 SYM|ATP5D NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit FNC|ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418668 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=513[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132360 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001687 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001687 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418668 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.418668 |OMIM:603150 |SNP:513 ENZ|EC:3.6.1.34 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|19p13.3 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 HG|species == rat; score == 238; expect == 1.2e-63; MEOW:ref|NP_620806.1| (89%) |species == Mouse; gene == 0610008F14Rik; score == 233; expect == 2.5e-62; MEOW:MGgn0015230 (88%) |species == Fruitfly; gene == CG2968; score == 134; expect == 1.9e-32; MEOW:FBgn0030184 (51%) } # EOR GENR { RETE|ID 1 HUgn0000514 CHR 1 20 DID 1 LocusLink:514 MAP 1 20q13.3 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ORG 1 Homo sapiens SYM 1 ATP5E ID|HUgn0000514 DID|LocusLink:514 ORG|Homo sapiens RSQ|REFSEQ:NM_006886 RPA|REFPROT:NP_008817 DBA|XM:NM_006886 |NA:AF052955 |NA:AF077045 |NA:AK026556 |NA:BC001690 |NA:BC003671 |NA:none PAC|XP:NP_008817 SYM|ATP5E NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit SYN|ATPE FNC|mitochondrial ATP synthase epsilon chain |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|The mitochondrial F1,F0-ATP synthase uses energy derived from a proton gradient to |synthesize ATP. The soluble F1 catalytic unit is attached via the F0 unit to the |mitochondrial inner membrane. The protein encoded by this gene is the smallest of |the five subunits comprising the F1 unit. This protein is a member of the eukaryotic |ATPase epsilon family, which is different from the bacterial/chloroplast ATPase |epsilon family. A pseudogene has been identified, and the presence of other similar |genes or pseudogenes has been detected. CHR|20 PRD|F(0)F(1)-ATPase |mitochondrial ATPase |H(+)-transporting ATP synthase |H(+)-transporting two-sector ATPase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177530 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=448741 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=514[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137188 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006886 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006886 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177530 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=448741 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.177530 |UNIGENE:Hs.448741 |OMIM:606153 |SNP:514 ENZ|EC:3.6.3.14 |hydrogen ion transporter activity ; GO:0015078 |hydrolase activity ; GO:0016787 MAP|20q13.3 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 } # EOR GENR { RETE|ID 1 HUgn0000515 CHR 1 1 DID 1 LocusLink:515 MAP 1 1p13.2 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1 ORG 1 Homo sapiens SYM 1 ATP5F1 ID|HUgn0000515 DID|LocusLink:515 ORG|Homo sapiens RSQ|REFSEQ:NM_001688 RPA|REFPROT:NP_001679 DBA|XM:NM_001688 |NA:BC005366 |NA:BC005960 |NA:BC016350 |NA:X60221 |NA:none PAC|XP:NP_001679 SYM|ATP5F1 NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1 FNC|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1 |proton transport ; GO:0015992 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81634 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=515[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137189 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001688 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001688 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81634 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.81634 |OMIM:603270 |SNP:515 ENZ|EC:3.6.1.34 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 MAP|1p13.2 CEL|mitochondrial matrix ; GO:0005759 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Atp5f1; score == 426; expect == 6e-120; MEOW:MGgn0000609 (82%) |species == rat; score == 425; expect == 1e-119; MEOW:ref|NP_599192.1| (82%) |species == Human; gene == LOC124496; score == 342; expect == 1.5e-94; MEOW:HUgn0124496 (76%) |species == Human; gene == LOC342800; score == 275; expect == 1.2e-74; MEOW:HUgn0342800 (92%) |species == Mosquito; gene == LOC12069; score == 193; expect == 7.2e-50; MEOW:AGgn0012069 (44%) |species == Fruitfly; gene == ATPsyn-b; score == 191; expect == 4.0e-49; MEOW:FBgn0019644 (46%) } # EOR GENR { RETE|ID 1 HUgn0000516 CHR 1 17 DID 1 LocusLink:516 MAP 1 17q21.33 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1 ORG 1 Homo sapiens SYM 1 ATP5G1 ID|HUgn0000516 DID|LocusLink:516 ORG|Homo sapiens RSQ|REFSEQ:NM_005175 RPA|REFPROT:NP_005166 DBA|XM:NM_005175 |NA:X69907 |NA:BC004963 |NA:D13118 |NA:none PAC|XP:NP_005166 SYM|ATP5G1 NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1 SYN|ATP5G FNC|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1 |proton transport ; GO:0015992 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=516[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137190 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005175 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005175 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80986 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.80986 |OMIM:603192 |SNP:516 ENZ|EC:3.6.1.34 |lipid binding ; GO:0008289 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 MAP|17q21.33 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Atp5g1; score == 189; expect == 2.6e-49; MEOW:MGgn0000610 (89%) |species == rat; score == 184; expect == 1.2e-47; MEOW:ref|NP_059007.1| (87%) |species == rat; score == 172; expect == 6.3e-44; MEOW:ref|XP_212887.1| (82%) |species == Human; gene == ATP5G3; score == 136; expect == 2.9e-33; MEOW:HUgn0000518 (70%) |species == Zfish; gene == atp5g; score == 132; expect == 3.6e-32; MEOW:ZFgn0002624 (81%) |species == Human; gene == ATP5G2; score == 129; expect == 6.1e-31; MEOW:HUgn0000517 (71%) } # EOR GENR { RETE|ID 1 HUgn0000517 CHR 1 12 DID 1 LocusLink:517 MAP 1 12q13.13 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2 ORG 1 Homo sapiens SYM 1 ATP5G2 ID|HUgn0000517 DID|LocusLink:517 ORG|Homo sapiens RSQ|REFSEQ:NM_005176 RPA|REFPROT:NP_005167 DBA|XM:NM_005176 |NA:X69908 |NA:BC013839 |NA:BC020826 |NA:D13119 |NA:none PAC|XP:NP_005167 SYM|ATP5G2 NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2 FNC|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2 |proton transport ; GO:0015992 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89399 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=517[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:373090 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005176 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005176 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89399 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.89399 |OMIM:603193 |SNP:517 ENZ|EC:3.6.1.34 |lipid binding ; GO:0008289 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 MAP|12q13.13 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 198; expect == 6.9e-52; MEOW:ref|NP_598240.1| (90%) |species == Mouse; gene == Atp5g2; score == 196; expect == 3.0e-51; MEOW:MGgn0018746 (88%) |species == rat; score == 181; expect == 1.5e-46; MEOW:ref|XP_345142.1| (86%) |species == rat; score == 170; expect == 2.0e-43; MEOW:ref|XP_237300.1| (80%) |species == Human; gene == ATP5G3; score == 151; expect == 9.7e-38; MEOW:HUgn0000518 (74%) |species == Zfish; gene == atp5g; score == 134; expect == 5.6e-33; MEOW:ZFgn0002624 (81%) |species == Human; gene == ATP5G1; score == 129; expect == 6.1e-31; MEOW:HUgn0000516 (71%) } # EOR GENR { RETE|ID 1 HUgn0000518 CHR 1 2 DID 1 LocusLink:518 MAP 1 2q31.2 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3 ORG 1 Homo sapiens SYM 1 ATP5G3 ID|HUgn0000518 DID|LocusLink:518 ORG|Homo sapiens RSQ|REFSEQ:NM_001689 RPA|REFPROT:NP_001680 DBA|XM:NM_001689 |NA:U09813 |NA:none PAC|XP:NP_001680 SYM|ATP5G3 NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3 FNC|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3 |proton transport ; GO:0015992 |energy pathways ; GO:0006091 CHR|2 PRD|ATP synthase, mitochondrial, C subunit-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=518[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:375306 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001689 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001689 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.429 |OMIM:602736 |SNP:518 ENZ|EC:3.6.1.34 |lipid binding ; GO:0008289 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 MAP|2q31.2 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 231; expect == 7.5e-62; MEOW:ref|NP_446208.1| (100%) |species == Mouse; gene == Atp5g3; score == 213; expect == 1.4e-56; MEOW:MGgn0042142 (95%) |species == Human; gene == ATP5G2; score == 151; expect == 9.7e-38; MEOW:HUgn0000517 (74%) |species == Zfish; gene == atp5g; score == 140; expect == 1.3e-34; MEOW:ZFgn0002624 (84%) |species == Human; gene == ATP5G1; score == 136; expect == 2.9e-33; MEOW:HUgn0000516 (70%) } # EOR GENR { RETE|ID 1 HUgn0000520 DID 1 LocusLink:520 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1 ORG 1 Homo sapiens SYM 1 ATP5GP1 ID|HUgn0000520 DID|LocusLink:520 CLA|Pseudogene ORG|Homo sapiens SYM|ATP5GP1 NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:373108 } # EOR GENR { RETE|ID 1 HUgn0000521 CHR 1 4 DID 1 LocusLink:521 MAP 1 4p16.3 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e ORG 1 Homo sapiens SYM 1 ATP5I ID|HUgn0000521 DID|LocusLink:521 ORG|Homo sapiens RSQ|REFSEQ:NM_007100 RPA|REFPROT:NP_009031 DBA|XM:NM_007100 |NA:AB028624 |NA:BC003679 |NA:BC017215 |NA:D50371 |NA:none PAC|XP:NP_009031 SYM|ATP5I NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e SYN|ATP5K FNC|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 CHR|4 PRD|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e (? oligomycin sensitivity conferring protein) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=85539 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=521[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137192 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007100 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007100 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=85539 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.85539 |OMIM:601519 |SNP:521 MAP|4p16.3 ENZ|hydrogen ion transporter activity ; GO:0015078 CEL|mitochondrion ; GO:0005739 } # EOR GENR { RETE|ID 1 HUgn0000522 CHR 1 21 DID 1 LocusLink:522 MAP 1 21q21.1 NAM 1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 ORG 1 Homo sapiens SYM 1 ATP5J ID|HUgn0000522 DID|LocusLink:522 ORG|Homo sapiens RSQ|REFSEQ:NM_001685 RPA|REFPROT:NP_001676 DBA|XM:NM_001685 |NA:AL110183 |NA:BC001178 |NA:M37104 |NA:M73031 |NA:none PAC|XP:NP_001676 SYM|ATP5J NAM|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 SYN|ATP5 |ATPM |ATP5A FNC|ATP synthase, H+ transporting, mitochondrial precursor |proton transport ; GO:0015992 |energy pathways ; GO:0006091 REAB|This gene encodes a soluble integral component of the mitochondrial H(+)-ATP synthase. |It is required for interaction between the F1 catalytic and F0 proton-translocating |segments. CHR|21 PRD|ATP synthase coupling factor 6 |ATP synthase, H+ transporting (ATPase, mitochondrial) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=246310 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=522[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127519 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001685 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001685 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=246310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25137 DBL|UNIGENE:Hs.246310 |OMIM:603152 |SNP:522 ENZ|EC:3.6.1.14 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 MAP|21q21.1 CEL|mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Atp5j; score == 185; expect == 1.8e-48; MEOW:MGgn0000616 (80%) |species == rat; score == 176; expect == 1.3e-45; MEOW:ref|NP_446054.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0000523 CHR 1 3 DID 1 LocusLink:523 MAP 1 3q13.31 NAM 1 ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A ORG 1 Homo sapiens SYM 1 ATP6V1A ID|HUgn0000523 DID|LocusLink:523 ORG|Homo sapiens RSQ|REFSEQ:NM_001690 RPA|REFPROT:NP_001681 DBA|XM:NM_001690 |NA:AF113129 |NA:AF339827 |NA:AL514316 |NA:BC012169 |NA:BC013138 |NA:BT006672 |NA:L09235 |NA:none PAC|XP:NP_001681 SYM|ATP6V1A NAM|ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A SYN|HO68 |VA68 |VPP2 |Vma1 |ATP6A1 |ATP6V1A1 FNC|ATPase, H+ transporting, lysosomal 70kD, V1 subunit A, isoform 1 |transport ; GO:0006810 |ATP biosynthesis ; GO:0006754 |energy coupled proton transport, against the electrochemical gradient ; GO:0015988 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is one of two A subunit isoforms and |is found in all tissues. Transcript variants derived from alternative polyadenylation |exist. CHR|3 PRD|V-ATPase A subunit 1 |V-ATPase 69 kDa subunit 1 |vacuolar ATPase isoform VA68 |vacuolar proton pump alpha subunit 1 |ATPase, H+ transporting, lysosomal, subunit A1 |H(+)-transporting two-sector ATPase, subunit A |H+-transporting ATPase chain A, vacuolar (VA68 type) |vacuolar ATP synthase catalytic subunit A, ubiquitous isoform |ATPase, H+ transporting, lysosomal 70kD, V1 subunit A, isoform 1 |ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A, isoform 1 |ATPase, H+ transporting, lysosomal, alpha polypeptide, 70kD, isoform 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409131 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=523[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125315 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001690 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001690 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=409131 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25152 DBL|UNIGENE:Hs.409131 |OMIM:607027 |SNP:523 ENZ|EC:3.6.3.14 |ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |ATP binding ; GO:0005524 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 MAP|3q13.31 CEL|integral to plasma membrane ; GO:0005887 |cytoplasm ; GO:0005737 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == Mouse; gene == Atp6v1a1; score == 1179; expect == 0.0; MEOW:MGgn0000623 (98%) |species == rat; score == 1175; expect == 0.0; MEOW:ref|XP_340988.1| (97%) |species == rat; score == 1169; expect == 0.0; MEOW:ref|XP_227250.2| (95%) |species == Mosquito; gene == LOC24697; score == 1053; expect == 0.0; MEOW:AGgn0024697 (84%) |species == Fruitfly; gene == Vha68-1; score == 1030; expect == 0.0; MEOW:FBgn0020368 (83%) |species == Fruitfly; gene == Vha68-2; score == 1028; expect == 0.0; MEOW:FBgn0020367 (83%) |species == Worm; gene == Y49A3A.2; score == 1006; expect == 0.0; MEOW:CEgn0019021 (81%) |species == rice; score == 844; expect == 0.0; MEOW:gnl|TIGR|8351.m00703 (68%) |species == Weed; gene == At1g78900; score == 840; expect == 0.0; MEOW:ATgn0005085 (69%) |species == rice; score == 827; expect == 0.0; MEOW:gnl|TIGR|8354.m04215 (67%) |species == Fruitfly; gene == CG5075; score == 826; expect == 0.0; MEOW:FBgn0032464 (73%) |species == Yeast; gene == TFP1; score == 431; expect == 1e-120; MEOW:SGgn0002344 (59%) } # EOR GENR { RETE|ID 1 HUgn0000524 DID 1 LocusLink:524 NAM 1 ATPase, H+ transporting, lysosomal 70kD, V1 subunit A, isoform 2 ORG 1 Homo sapiens SYM 1 ATP6V1A2 ID|HUgn0000524 DID|LocusLink:524 ORG|Homo sapiens SYM|ATP6V1A2 NAM|ATPase, H+ transporting, lysosomal 70kD, V1 subunit A, isoform 2 SYN|HO68 |VPP2 |Vma1 |ATP6A2 REAB|DISCONTINUED: LocusID 524 Bilbe personal communication: HO68 as it appeared to be |unique to the human osteoclastoma cDNA it was found in and it was not possible to |clone it again from another cDNA source HUGO [rl] PRD|V-ATPase A subunit 2 |V-ATPase 69 kDa subunit 2 |vacuolar proton pump alpha subunit 2 |ATPase, H+ transporting, lysosomal, subunit A2 |H(+)-transporting two-sector ATPase, subunit 2 |H+-transporting ATPase chain A, vacuolar (HO68 type) |vacuolar ATP synthase catalytic subunit A, osteoclast isoform |ATPase, H+ transporting, lysosomal, alpha polypeptide, 70kD, isoform 2 ENZ|EC:3.6.3.14 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=524[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:229105 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UWCM:125316.html PHP|Alpha subunit (Subunit A) of a vacuolar-type H+-ATPase proton pump 2 FNC|proton transport ; GO:0015992 CEL|vacuolar hydrogen-transporting ATPase ; GO:0000219 |plasma membrane ; GO:0005886 } # EOR GENR { RETE|ID 1 HUgn0000525 CHR 1 2 DID 1 LocusLink:525 MAP 1 2p13.1 NAM 1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) ORG 1 Homo sapiens SYM 1 ATP6V1B1 ID|HUgn0000525 DID|LocusLink:525 ORG|Homo sapiens RSQ|REFSEQ:NM_001692 RPA|REFPROT:NP_001683 DBA|XM:NM_001692 |NA:AF107466 |NA:AF107467 |NA:AF107468 |NA:AF107469 |NA:AF107470 |NA:AF107471 |NA:AF107472 |NA:AF107473 |NA:AF107474 |NA:AF107475 |NA:AF107476 |NA:AF107477 |NA:AF107478 |NA:AK127853 |NA:AU126647 |NA:M25809 |NA:none PAC|XP:NP_001683 SYM|ATP6V1B1 NAM|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) SYN|VATB |VPP3 |Vma2 |RTA1B |ATP6B1 FNC|ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 1 |hearing ; GO:0007605 |excretion ; GO:0007588 |ATP biosynthesis ; GO:0006754 |energy coupled proton transport, against the electrochemical gradient ; GO:0015988 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is one of two B subunit isoforms and |is found in the kidney. Mutations in this gene cause distal renal tubular acidosis |associated with sensorineural deafness. CHR|2 PRD|V-ATPase B1 subunit |H+-ATPase beta 1 subunit |vacuolar proton pump, subunit 3 |endomembrane proton pump 58 kDa subunit |vacuolar ATP synthase subunit B, kidney isoform |H(+)-transporting two-sector ATPase, 58kD subunit |ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD |ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=64173 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=525[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125316 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001692 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001692 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.64173 |OMIM:192132 |SNP:525 |UWCM:125316.txt ENZ|EC:3.6.3.14 |ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |ATP binding ; GO:0005524 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 |hydrogen-transporting ATPase activity, rotational mechanism ; GO:0046961 MAP|2p13.1 PHP|Renal tubular acidosis with deafness CEL|cytoplasm ; GO:0005737 |plasma membrane ; GO:0005886 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == rat; score == 974; expect == 0.0; MEOW:ref|XP_232119.2| (94%) |species == Mouse; gene == Atp6v1b1; score == 969; expect == 0.0; MEOW:MGgn0000624 (93%) |species == Mouse; gene == Atp6v1b2; score == 868; expect == 0.0; MEOW:MGgn0000625 (88%) |species == rat; score == 868; expect == 0.0; MEOW:ref|NP_476561.1| (88%) |species == Human; gene == ATP6V1B2; score == 867; expect == 0.0; MEOW:HUgn0000526 (88%) |species == Fruitfly; gene == Vha55; score == 839; expect == 0.0; MEOW:FBgn0005671 (86%) |species == Mosquito; gene == LOC18716; score == 838; expect == 0.0; MEOW:AGgn0018716 (86%) |species == Worm; gene == vha-12; score == 810; expect == 0.0; MEOW:CEgn0026408 (83%) |species == Yeast; gene == VMA2; score == 754; expect == 0.0; MEOW:SGgn0000331 (78%) |species == Worm; gene == Y110A7A.12; score == 745; expect == 0.0; MEOW:CEgn0020284 (77%) |species == rice; score == 736; expect == 0.0; MEOW:gnl|TIGR|8354.m03416 (74%) |species == Weed; gene == At1g76030; score == 734; expect == 0.0; MEOW:ATgn0001989 (78%) |species == Weed; gene == At4g38510; score == 734; expect == 0.0; MEOW:ATgn0020265 (78%) |species == rice; score == 726; expect == 0.0; MEOW:gnl|TIGR|8350.m04758 (77%) } # EOR GENR { RETE|ID 1 HUgn0000526 CHR 1 8 DID 1 LocusLink:526 MAP 1 8p22-p21 NAM 1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 ORG 1 Homo sapiens SYM 1 ATP6V1B2 ID|HUgn0000526 DID|LocusLink:526 ORG|Homo sapiens RSQ|REFSEQ:NM_001693 RPA|REFPROT:NP_001684 DBA|XM:NM_001693 |NA:Z37165 |NA:BC003100 |NA:BC007309 |NA:BC030640 |NA:L35249 |NA:M60346 |NA:X62949 |NA:none PAC|XP:NP_001684 SYM|ATP6V1B2 NAM|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 SYN|HO57 |VATB |VPP3 |Vma2 |ATP6B2 |ATP6B1B2 FNC|ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 2 |ATP biosynthesis ; GO:0006754 |energy coupled proton transport, against the electrochemical gradient ; GO:0015988 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is one of two B subunit isoforms and |is the only B isoform highly expressed in osteoclasts. A pseudogene has been found |for this gene. CHR|8 PRD|V-ATPase B2 subunit |vacuolar proton pump B isoform 2 |endomembrane proton pump 58 kDa subunit |vacuolar ATP synthase subunit B, brain isoform |H(+)-transporting two-sector ATPase, 56/58kD subunit, isoform 2 |ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=295917 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=526[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:229107 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001693 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001693 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=295917 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.295917 |OMIM:606939 |SNP:526 ENZ|EC:3.6.3.14 |ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |ATP binding ; GO:0005524 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 |hydrogen-transporting ATPase activity, rotational mechanism ; GO:0046961 MAP|8p22-p21 CEL|cytoplasm ; GO:0005737 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == Mouse; gene == Atp6v1b2; score == 1008; expect == 0.0; MEOW:MGgn0000625 (99%) |species == rat; score == 1008; expect == 0.0; MEOW:ref|NP_476561.1| (99%) |species == Human; gene == ATP6V1B1; score == 867; expect == 0.0; MEOW:HUgn0000525 (88%) |species == Mosquito; gene == LOC18716; score == 865; expect == 0.0; MEOW:AGgn0018716 (90%) |species == Fruitfly; gene == Vha55; score == 864; expect == 0.0; MEOW:FBgn0005671 (90%) |species == rat; score == 860; expect == 0.0; MEOW:ref|XP_232119.2| (87%) |species == Mouse; gene == Atp6v1b1; score == 859; expect == 0.0; MEOW:MGgn0000624 (87%) |species == Worm; gene == vha-12; score == 819; expect == 0.0; MEOW:CEgn0026408 (85%) |species == Yeast; gene == VMA2; score == 763; expect == 0.0; MEOW:SGgn0000331 (80%) |species == Worm; gene == Y110A7A.12; score == 757; expect == 0.0; MEOW:CEgn0020284 (77%) |species == Weed; gene == At1g76030; score == 747; expect == 0.0; MEOW:ATgn0001989 (79%) |species == Weed; gene == At4g38510; score == 744; expect == 0.0; MEOW:ATgn0020265 (79%) |species == rice; score == 742; expect == 0.0; MEOW:gnl|TIGR|8354.m03416 (79%) |species == rice; score == 738; expect == 0.0; MEOW:gnl|TIGR|8350.m04758 (78%) } # EOR GENR { RETE|ID 1 HUgn0000527 CHR 1 16 DID 1 LocusLink:527 MAP 1 16p13.3 NAM 1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c ORG 1 Homo sapiens SYM 1 ATP6V0C ID|HUgn0000527 DID|LocusLink:527 ORG|Homo sapiens RSQ|REFSEQ:NM_001694 RPA|REFPROT:NP_001685 DBA|XM:NM_001694 |NA:BC004537 |NA:BC007389 |NA:BC007759 |NA:BC009290 |NA:BI548787 |NA:M62762 |NA:none PAC|XP:NP_001685 SYM|ATP6V0C NAM|ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c SYN|ATPL |VATL |Vma3 |ATP6C |ATP6L FNC|ATPase, H+ transporting, lysosomal, V0 subunit c |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is part of the transmembrane V0 domain. |This gene had the previous symbols of ATP6C and ATP6L. CHR|16 PRD|vacuolar proton pump, 16 kDa subunit |ATPase, H+ transporting, lysosomal, 16-KD |vacuolar H+ ATPase proton channel subunit |vacuolar ATP synthase 16 kDa proteolipid subunit |H(+)-transporting two-sector ATPase, 16 kDa subunit |ATPase, H+ transporting, lysosomal 16kD, V0 subunit c |ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=527[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128131 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001694 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001694 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=389107 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.389107 |OMIM:108745 |SNP:527 ENZ|EC:3.6.3.14 |hydrogen ion transporter activity ; GO:0015078 |hydrogen-transporting two-sector ATPase activity ; GO:0003936 |hydrolase activity ; GO:0016787 MAP|16p13.3 CEL|integral to membrane ; GO:0016021 HG|species == Fruitfly; gene == Vha16; score == 233; expect == 4.3e-62; MEOW:FBgn0004145 (81%) |species == Mouse; gene == Atp6v0c; score == 227; expect == 1.5e-60; MEOW:MGgn0000644 (90%) |species == rat; score == 227; expect == 2.2e-60; MEOW:ref|NP_570836.1| (90%) |species == Zfish; gene == atp6v0c; score == 217; expect == 1.1e-58; MEOW:ZFgn0002553 (91%) |species == Mosquito; score == 213; expect == 3.9e-56; MEOW:AGgn0025336 (81%) |species == Mosquito; score == 213; expect == 2.7e-56; MEOW:AGgn0027550 (81%) |species == Fruitfly; gene == CG32090; score == 198; expect == 6.8e-52; MEOW:FBgn0052090 (79%) |species == Yeast; gene == CUP5; score == 174; expect == 6.9e-45; MEOW:SGgn0000753 (71%) |species == Weed; gene == At1g19910; score == 171; expect == 1.1e-43; MEOW:ATgn0002601 (62%) |species == Weed; gene == At1g75630; score == 170; expect == 2.5e-43; MEOW:ATgn0001882 (62%) |species == Weed; gene == At2g16510; score == 170; expect == 3.3e-43; MEOW:ATgn0007438 (63%) |species == Weed; gene == At4g34720; score == 170; expect == 3.3e-43; MEOW:ATgn0019296 (63%) |species == Weed; gene == At4g38920; score == 170; expect == 3.3e-43; MEOW:ATgn0020413 (63%) |species == Worm; gene == vha-2; score == 170; expect == 2.3e-43; MEOW:CEgn0003047 (67%) |species == rice; score == 170; expect == 6.7e-43; MEOW:gnl|TIGR|8358.m00605 (62%) |species == Yeast; gene == TFP3; score == 169; expect == 4.7e-43; MEOW:SGgn0006155 (63%) |species == rice; score == 169; expect == 8.7e-43; MEOW:gnl|TIGR|8353.m00055 (62%) |species == rice; score == 167; expect == 3.3e-42; MEOW:gnl|TIGR|8350.m06866 (57%) |species == Worm; gene == vha-1; score == 157; expect == 2.0e-39; MEOW:CEgn0003046 (63%) |species == Human; gene == LOC284015; score == 148; expect == 1.0e-36; MEOW:HUgn0284015 (69%) } # EOR GENR { RETE|ID 1 HUgn0000528 CHR 1 8 DID 1 LocusLink:528 MAP 1 8q22.3 NAM 1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 ORG 1 Homo sapiens SYM 1 ATP6V1C1 ID|HUgn0000528 DID|LocusLink:528 ORG|Homo sapiens RSQ|REFSEQ:NM_001695 RPA|REFPROT:NP_001686 DBA|XM:NM_001695 |NA:AF363578 |NA:AK000064 |NA:AU137773 |NA:BC010960 |NA:BX648079 |NA:J05682 |NA:X69151 |NA:none PAC|XP:NP_001686 SYM|ATP6V1C1 NAM|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 SYN|VATC |Vma5 |ATP6C |ATP6D |FLJ20057 FNC|ATPase, H+ transporting, lysosomal 42kD, V1 subunit C, isoform 1 |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is known as the C subunit and is found |ubiquitously. This C subunit is analogous but not homologous to gamma subunit of |F-ATPases. Transcript variants derived from alternative polyadenylation exist. Previously, |this gene was designated ATP6D. CHR|8 PRD|vat c |V-ATPase C subunit |H+ -ATPase C subunit |vacuolar proton pump C subunit |vacuolar ATP synthase subunit C |vacuolar proton pump, 42-kD subunit |ATPase, H+ transporting, lysosomal, 42kD |H+-transporting ATPase chain C, vacuolar |vacuolar proton-ATPase, subunit C, VI domain |ATPase, H+ transporting, lysosomal, subunit C |H(+)-transporting two-sector ATPase, subunit C |ATPase, H+ transporting, lysosomal 42kD, V1 subunit C, isoform 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=86905 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=528[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:229110 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001695 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001695 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=86905 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.86905 |OMIM:603097 |SNP:528 ENZ|EC:3.6.3.14 |ATP binding ; GO:0005524 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 |hydrogen-transporting ATPase activity, rotational mechanism ; GO:0046961 MAP|8q22.3 CEL|plasma membrane ; GO:0005886 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == rat; score == 730; expect == 0.0; MEOW:ref|XP_216940.2| (97%) |species == Mouse; gene == Atp6v1c1; score == 723; expect == 0.0; MEOW:MGgn0017629 (97%) |species == Mosquito; score == 505; expect == 3e-143; MEOW:AGgn0027104 (58%) |species == Human; gene == ATP6V1C2; score == 475; expect == 2e-134; MEOW:HUgn0245973 (61%) |species == Worm; gene == vha-11; score == 437; expect == 6e-123; MEOW:CEgn0031539 (56%) |species == Fruitfly; gene == Vha44; score == 387; expect == 5e-108; MEOW:FBgn0020611 (65%) |species == Weed; gene == At1g12840; score == 272; expect == 2.6e-73; MEOW:ATgn0001016 (39%) |species == rice; score == 269; expect == 4.8e-72; MEOW:gnl|TIGR|8353.m04613 (41%) |species == Yeast; gene == VMA5; score == 228; expect == 4.4e-60; MEOW:SGgn0001563 (38%) } # EOR GENR { RETE|ID 1 HUgn0000529 CHR 1 22 DID 1 LocusLink:529 MAP 1 22pter-q11.2 NAM 1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 ORG 1 Homo sapiens SYM 1 ATP6V1E1 ID|HUgn0000529 DID|LocusLink:529 ORG|Homo sapiens RSQ|REFSEQ:NM_001696 RPA|REFPROT:NP_001687 DBA|XM:NM_001696 |NA:AI565049 |NA:BC004443 |NA:BI546032 |NA:X71491 |NA:X76228 |NA:none PAC|XP:NP_001687 SYM|ATP6V1E1 NAM|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 SYN|P31 |Vma4 |ATP6E |ATP6E2 |ATP6V1E FNC|ATPase, H+ transporting, lysosomal 31kD, V1 subunit E isoform 1 |ATP synthesis coupled proton transport ; GO:0015986 |proton transport ; GO:0015992 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is known as the E subunit and is found |ubiquitously. Pseudogenes for this gene have been found in the genome. CHR|22 PRD|V-ATPase, subunit E |vacuolar proton pump, 31-kd subunit |H+-transporting ATP synthase chain E, vacuolar |H(+)-transporting two-sector ATPase, 31kDa subunit |ATPase, H+ transporting, lysosomal 31kD, V1 subunit E |ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD |ATPase, H+ transporting, lysosomal 31kD, V1 subunit E isoform 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77805 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=529[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:229111 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001696 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001696 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77805 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.77805 |OMIM:108746 |SNP:529 ENZ|EC:3.6.3.14 |hydrolase activity ; GO:0016787 |hydrogen-exporting ATPase activity, phosphorylative mechanism ; GO:0008553 MAP|22pter-q11.2 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |plasma membrane ; GO:0005886 |proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == rat; score == 310; expect == 3.1e-85; MEOW:ref|XP_216251.1| (99%) |species == Mouse; gene == Atp6v1e1; score == 290; expect == 5.7e-79; MEOW:MGgn0000632 (89%) |species == Human; gene == LOC343515; score == 278; expect == 2.2e-75; MEOW:HUgn0343515 (90%) |species == Zfish; gene == atp6v1e1; score == 268; expect == 1.7e-72; MEOW:ZFgn0002530 (77%) |species == Fruitfly; gene == Vha26; score == 224; expect == 2.9e-59; MEOW:FBgn0015324 (63%) |species == Human; gene == ATP6V1E2; score == 223; expect == 6.4e-59; MEOW:HUgn0090423 (77%) |species == Mosquito; gene == LOC14885; score == 215; expect == 1.3e-56; MEOW:AGgn0014885 (62%) |species == Weed; gene == At4g11150; score == 164; expect == 4.8e-41; MEOW:ATgn0018274 (40%) |species == rice; score == 151; expect == 3.5e-37; MEOW:gnl|TIGR|8353.m03562 (38%) |species == rice; score == 149; expect == 1.2e-36; MEOW:gnl|TIGR|8350.m04315 (42%) |species == Weed; gene == At3g08560; score == 136; expect == 1.4e-32; MEOW:ATgn0011908 (36%) } # EOR GENR { RETE|ID 1 HUgn0000530 DID 1 LocusLink:530 NAM 1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 ORG 1 Homo sapiens SYM 1 ATP6V1EL1 ID|HUgn0000530 DID|LocusLink:530 ORG|Homo sapiens SYM|ATP6V1EL1 NAM|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 SYN|ATP6EL1 PRD|ATPase, H+ transporting, lysosomal 31kD, V1 subunit E-like 1 |ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:229112 } # EOR GENR { RETE|ID 1 HUgn0000531 DID 1 LocusLink:531 NAM 1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1 ORG 1 Homo sapiens SYM 1 ATP6V1EP1 ID|HUgn0000531 DID|LocusLink:531 CLA|Pseudogene ORG|Homo sapiens SYM|ATP6V1EP1 NAM|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1 SYN|ATP6EP1 PRD|ATPase, H+ transporting, lysosomal 31kD, V1 subunit E pseudogene 1 |ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:229113 } # EOR GENR { RETE|ID 1 HUgn0000532 DID 1 LocusLink:532 NAM 1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2 ORG 1 Homo sapiens SYM 1 ATP6V1EP2 ID|HUgn0000532 DID|LocusLink:532 CLA|Pseudogene ORG|Homo sapiens SYM|ATP6V1EP2 NAM|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2 SYN|ATP6EP2 PRD|ATPase, H+ transporting, lysosomal 31kD, V1 subunit E pseudogene 2 |ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:229114 } # EOR GENR { RETE|ID 1 HUgn0000533 CHR 1 1 DID 1 LocusLink:533 MAP 1 1p32.3 NAM 1 ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' ORG 1 Homo sapiens SYM 1 ATP6V0B ID|HUgn0000533 DID|LocusLink:533 ORG|Homo sapiens RSQ|REFSEQ:NM_004047 RPA|REFPROT:NP_004038 DBA|XM:NM_004047 |NA:BC000423 |NA:BC005876 |NA:BC042664 |NA:BC053601 |NA:BI770034 |NA:D89052 |NA:none |NA:L05089 PAC|XP:NP_004038 SYM|ATP6V0B NAM|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' SYN|ATP6F |HATPL |VMA16 FNC|ATPase, H+ transporting, lysosomal 21kD, V0 subunit c'' |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is part of the transmembrane V0 domain |and is the human counterpart of yeast VMA16. CHR|1 PRD|vacuolar proton pump, 21-kD subunit |H(+)-transporting two-sector ATPase, subunit F |vacuolar ATP synthase 21 kDa proteolipid subunit |ATPase, H+ transporting, lysosomal 21kD, V0 subunit c'' URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7476 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=533[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6407112 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004047 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004047 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7476 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.7476 |OMIM:603717 |SNP:533 ENZ|EC:3.6.3.14 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|1p32.3 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 369; expect == 6e-103; MEOW:ref|XP_216510.2| (96%) |species == Mouse; gene == Atp6v0b; score == 367; expect == 2e-102; MEOW:MGgn0034062 (96%) |species == Mosquito; score == 219; expect == 5.9e-58; MEOW:AGgn0003500 (64%) |species == Fruitfly; gene == VhaPPA1-1; score == 215; expect == 6.9e-57; MEOW:FBgn0028662 (63%) |species == Worm; gene == T01H3.1; score == 214; expect == 1.4e-56; MEOW:CEgn0015167 (63%) |species == Fruitfly; gene == CG7026; score == 186; expect == 3.4e-48; MEOW:FBgn0038276 (56%) |species == Yeast; gene == PPA1; score == 174; expect == 1.1e-44; MEOW:SGgn0001068 (55%) |species == rice; score == 172; expect == 1.1e-43; MEOW:gnl|TIGR|8350.m03905 (58%) |species == Weed; gene == At2g25610; score == 167; expect == 4.7e-42; MEOW:ATgn0009121 (56%) |species == Weed; gene == At4g32530; score == 167; expect == 4.7e-42; MEOW:ATgn0020844 (56%) } # EOR GENR { RETE|ID 1 HUgn0000534 CHR 1 6 DID 1 LocusLink:534 MAP 1 6p21.3 NAM 1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2 ORG 1 Homo sapiens SYM 1 ATP6V1G2 ID|HUgn0000534 DID|LocusLink:534 ORG|Homo sapiens RSQ|REFSEQ:NM_130463 |REFSEQ:NM_138282 RPA|REFPROT:NP_569730 |REFPROT:NP_612139 DBA|XM:NM_130463 |XM:NM_138282 |NA:AP000505 |NA:Y14768 |NA:BC047791 |NA:none PAC|XP:NP_569730 |XP:NP_612139 SYM|ATP6V1G2 NAM|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2 SYN|NG38 |ATP6G |Vma10 |ATP6G2 FNC|ATPase, H+ transporting, lysosomal, V1 subunit G2, isoform a |ATPase, H+ transporting, lysosomal, V1 subunit G2, isoform b |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It also |contains the ATP catalytic site. The encoded protein of this gene is one of three |G subunit proteins. This gene had the previous gene symbol of ATP6G and ATP6G2. |Transcript variants using different 3' splice junctions for the first exon and polyadenylation |signals that encode two isoforms have been described. CHR|6 PRD|Em:AC004181.3 |V-ATPase G subunit 2 |V-ATPase 13 kDa subunit 2 |vacuolar proton pump G subunit 2 |vacuolar ATP synthase subunit G 2 |vacuolar ATPase G synthetase subunit |H(+)-transporting two-sector ATPase, subunit G2 |ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 2 |ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G isoform 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=534[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7218410 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130463 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130463 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=249227 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.249227 |OMIM:606853 |SNP:534 ENZ|EC:3.6.3.14 |hydrogen ion transporter activity ; GO:0015078 |hydrolase activity ; GO:0016787 MAP|6p21.3 HG|species == chimp; score == 169; expect == 1.6e-43; MEOW:sp|BAC78160|BAC78160 (99%) |species == chimp; score == 169; expect == 1.6e-43; MEOW:sp|Q862Z6|Q862Z6 (99%) |species == Mouse; gene == Atp6v1g2; score == 162; expect == 1.2e-41; MEOW:MGgn0016747 (95%) |species == rat; score == 129; expect == 1.8e-31; MEOW:ref|XP_213980.1| (53%) } # EOR GENR { RETE|ID 1 HUgn0000535 CHR 1 17 DID 1 LocusLink:535 MAP 1 17q21 NAM 1 ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 ORG 1 Homo sapiens SYM 1 ATP6V0A1 ID|HUgn0000535 DID|LocusLink:535 ORG|Homo sapiens RSQ|REFSEQ:NM_005177 RPA|REFPROT:NP_005168 DBA|XM:NM_005177 |NA:AL096733 |NA:AL137683 |NA:BC017826 |NA:BC032398 |NA:BX648978 |NA:L78933 |NA:Z71460 |NA:none |NA:U18920 PAC|XP:NP_005168 SYM|ATP6V0A1 NAM|ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 SYN|a1 |Stv1 |VPP1 |Vph1 |ATP6N1 |ATP6N1A FNC|ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 |proton transport ; GO:0015992 REAB|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme |that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent |organelle acidification is necessary for such intracellular processes as protein |sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised |of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of |a hexamer of three A and three B subunits plus the C, D, and E subunits. It contains |the ATP catalytic site. The encoded protein is one of three 116 kD subunits and |is associated with clathrin-coated vesicles. The occurrence of splice variants encoding |different protein products has been reported, but the full-length nature of these |transcripts has not been determined. CHR|17 PRD|vacuolar proton pump, subunit 1 |vacuolar-type H(+)-ATPase 115 kDa subunit |vacuolar proton translocating ATPase 116 kDa subunit A isoform 1 |H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1 |clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit |ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=267871 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=535[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125314 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005177 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005177 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=267871 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.267871 |OMIM:192130 |SNP:535 ENZ|EC:3.6.3.14 |hydrogen ion transporter activity ; GO:0015078 MAP|17q21 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Atp6v0a1; score == 1561; expect == 0.0; MEOW:MGgn0000635 (95%) |species == rat; score == 1560; expect == 0.0; MEOW:ref|NP_113792.1| (95%) |species == Mosquito; gene == LOC428; score == 1027; expect == 0.0; MEOW:AGgn0000428 (61%) |species == Mosquito; score == 1020; expect == 0.0; MEOW:AGgn0027730 (61%) |species == Mosquito; gene == LOC22715; score == 1017; expect == 0.0; MEOW:AGgn0022715 (60%) |species == Human; gene == ATP6V0A4; score == 1011; expect == 0.0; MEOW:HUgn0050617 (61%) |species == Worm; gene == ZK637.8f; score == 950; expect == 0.0; MEOW:CEgn0030716 (57%) |species == Worm; gene == unc-32; score == 944; expect == 0.0; MEOW:CEgn0002919 (57%) |species == Worm; gene == ZK637.8c; score == 943; expect == 0.0; MEOW:CEgn0030713 (57%) |species == Worm; gene == ZK637.8e; score == 937; expect == 0.0; MEOW:CEgn0030715 (57%) |species == Worm; gene == ZK637.8d; score == 932; expect == 0.0; MEOW:CEgn0030714 (56%) |species == Mosquito; gene == LOC24503; score == 891; expect == 0.0; MEOW:AGgn0024503 (53%) |species == Fruitfly; gene == Vha100-2; score == 884; expect == 0.0; MEOW:FBgn0028670 (53%) |species == Fruitfly; gene == Vha100-1; score == 883; expect == 0.0; MEOW:FBgn0028671 (59%) |species == Mosquito; gene == LOC8399; score == 854; expect == 0.0; MEOW:AGgn0008399 (53%) |species == Human; gene == ATP6V0A2; score == 850; expect == 0.0; MEOW:HUgn0023545 (53%) |species == Fruitfly; gene == CG12602; score == 799; expect == 0.0; MEOW:FBgn0032373 (50%) |species == Fruitfly; gene == CG7678; score == 793; expect == 0.0; MEOW:FBgn0038613 (49%) |species == Weed; gene == At4g39080; score == 618; expect == 4e-177; MEOW:ATgn0020483 (42%) |species == rice; score == 615; expect == 5e-176; MEOW:gnl|TIGR|8360.m01310 (41%) |species == Yeast; gene == VPH1; score == 610; expect == 1e-174; MEOW:SGgn0005796 (40%) |species == rice; score == 605; expect == 6e-173; MEOW:gnl|TIGR|8362.m00765 (40%) |species == Weed; gene == At2g21410; score == 604; expect == 6e-173; MEOW:ATgn0010454 (40%) |species == Weed; gene == At2g28520; score == 596; expect == 2e-170; MEOW:ATgn0011081 (40%) |species == rice; score == 594; expect == 1e-169; MEOW:gnl|TIGR|8350.m05792 (41%) } # EOR GENR { RETE|ID 1 HUgn0000537 CHR 1 X DID 1 LocusLink:537 MAP 1 Xq28 NAM 1 ATPase, H+ transporting, lysosomal accessory protein 1 ORG 1 Homo sapiens SYM 1 ATP6AP1 ID|HUgn0000537 DID|LocusLink:537 ORG|Homo sapiens RSQ|REFSEQ:NM_001183 RPA|REFPROT:NP_001174 DBA|XM:NM_001183 |NA:AK026519 |NA:AK075284 |NA:AK090462 |NA:AK091083 |NA:AK130616 |NA:AL136851 |NA:BC000724 |NA:D16469 |NA:none PAC|XP:NP_001174 SYM|ATP6AP1 NAM|ATPase, H+ transporting, lysosomal accessory protein 1 SYN|16A |CF2 |ORF |Ac45 |XAP3 |XAP-3 |ATP6S1 |VATPS1 |ATP6IP1 FNC|ATPase, H+ transporting, lysosomal accessory protein 1 precursor |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 REAB|This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification |of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised |of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. |V-ATPase dependent organelle acidification is necessary for such intracellular processes |as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded |protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated |acidification of neuroendocrine secretory granules. CHR|X PRD|H-ATPase subunit |V-ATPase S1 accessory protein |ATPase, H+ transporting, lysosomal interacting protein 1 |ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6551 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=537[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9806347 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001183 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001183 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=6551 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.6551 |OMIM:300197 |SNP:537 ENZ|EC:3.6.3.14 |ATP binding ; GO:0005524 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|Xq28 CEL|proton-transporting two-sector ATPase complex ; GO:0016469 HG|species == Mouse; gene == Atp6ap1; score == 737; expect == 0.0; MEOW:MGgn0000636 (86%) |species == rat; score == 701; expect == 0.0; MEOW:ref|NP_113973.1| (88%) |species == Zfish; gene == atp6ap1; score == 340; expect == 1.3e-93; MEOW:ZFgn0002590 (46%) } # EOR GENR { RETE|ID 1 HUgn0000538 CHR 1 X DID 1 LocusLink:538 MAP 1 Xq13.2-q13.3 NAM 1 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ORG 1 Homo sapiens SYM 1 ATP7A ID|HUgn0000538 DID|LocusLink:538 ORG|Homo sapiens RSQ|REFSEQ:NM_000052 RPA|REFPROT:NP_000043 DBA|XM:NM_000052 |NA:AB117973 |NA:L06133 |NA:L06476 |NA:X69208 |NA:none PAC|XP:NP_000043 SYM|ATP7A NAM|ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) SYN|MK |MNK |OHS FNC|ATPase, Cu++ transporting, alpha polypeptide |copper ion transport ; GO:0006825 |metabolism ; GO:0008152 |mercury ion transport ; GO:0015694 |metal ion transport ; GO:0030001 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=606 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=538[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119395 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000052 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000052 |http://www.geneclinics.org/query?mim=300011 |http://www.ncbi.nlm.nih.gov/disease/Menkes.html DBL|UNIGENE:Hs.606 |OMIM:300011 |SNP:538 |UWCM:119395.html |IXDB:539501 ENZ|EC:3.6.1.36 |copper-exporting ATPase activity ; GO:0004008 |copper ion binding ; GO:0005507 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 |mercury ion transporter activity ; GO:0015097 MAP|Xq13.2-q13.3 PHP|Cutis laxa, neonatal |Menkes disease |Occipital horn syndrome CEL|Golgi apparatus ; GO:0005794 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Atp7a; score == 2529; expect == 0.0; MEOW:MGgn0000637 (88%) |species == rat; score == 2512; expect == 0.0; MEOW:ref|NP_434690.1| (88%) |species == Human; gene == ATP7B; score == 1493; expect == 0.0; MEOW:HUgn0000540 (56%) |species == Mosquito; gene == LOC8866; score == 1047; expect == 0.0; MEOW:AGgn0008866 (50%) |species == Mosquito; score == 1037; expect == 0.0; MEOW:AGgn0026574 (49%) |species == Fruitfly; gene == CG1886; score == 994; expect == 0.0; MEOW:FBgn0030343 (47%) |species == rice; score == 672; expect == 0.0; MEOW:gnl|TIGR|8351.m00897 (39%) |species == Weed; gene == RAN1; score == 658; expect == 0.0; MEOW:ATgn0000635 (38%) |species == Weed; gene == RAN1; score == 610; expect == 2e-174; MEOW:ATgn0024543 (37%) |species == rice; score == 604; expect == 4e-172; MEOW:gnl|TIGR|8351.m00678 (36%) |species == rice; score == 597; expect == 4e-170; MEOW:gnl|TIGR|8352.m04350 (37%) |species == Yeast; gene == CCC2; score == 486; expect == 9e-138; MEOW:SGgn0002678 (32%) |species == ecoli; score == 385; expect == 1e-107; MEOW:ref|NP_415017.1| (30%) } # EOR GENR { RETE|ID 1 HUgn0000539 CHR 1 21 DID 1 LocusLink:539 MAP 1 21q22.1-q22.2 NAM 1 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) ORG 1 Homo sapiens SYM 1 ATP5O ID|HUgn0000539 DID|LocusLink:539 ORG|Homo sapiens RSQ|REFSEQ:NM_001697 RPA|REFPROT:NP_001688 DBA|XM:NM_001697 |NA:BC021233 |NA:BC022865 |NA:X83218 |NA:none PAC|XP:NP_001688 SYM|ATP5O NAM|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) SYN|ATPO |OSCP FNC|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) |proton transport ; GO:0015992 |ATP biosynthesis ; GO:0006754 CHR|21 PRD|mitochondrial ATP synthase, O subunit |human ATP synthase OSCP subunit, oligomycin sensitivity conferring protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409140 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=539[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:545472 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001697 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001697 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=409140 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00193 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00195 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 DBL|UNIGENE:Hs.409140 |OMIM:600828 |SNP:539 ENZ|EC:3.6.1.34 |hydrogen ion transporter activity ; GO:0015078 |transporter activity ; GO:0005215 |hydrolase activity ; GO:0016787 MAP|21q22.1-q22.2 CEL|proton-transporting ATP synthase complex (sensu Eukarya) ; GO:0005753 |mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Atp5o; score == 350; expect == 1.6e-97; MEOW:MGgn0002067 (82%) |species == rat; score == 345; expect == 1.3e-95; MEOW:ref|NP_620238.1| (81%) |species == Mosquito; gene == LOC11882; score == 185; expect == 7.8e-48; MEOW:AGgn0011882 (50%) |species == Fruitfly; gene == Oscp; score == 178; expect == 1.3e-45; MEOW:FBgn0016691 (49%) |species == Worm; gene == F27C1.7; score == 152; expect == 1.2e-37; MEOW:CEgn0009451 (42%) |species == Weed; gene == At5g13450; score == 130; expect == 5.2e-31; MEOW:ATgn0026134 (35%) } # EOR GENR { RETE|ID 1 HUgn0000540 CHR 1 13 DID 1 LocusLink:540 MAP 1 13q14.2-q21 NAM 1 ATPase, Cu++ transporting, beta polypeptide (Wilson disease) ORG 1 Homo sapiens SYM 1 ATP7B ID|HUgn0000540 DID|LocusLink:540 ORG|Homo sapiens RSQ|REFSEQ:NM_000053 RPA|REFPROT:NP_000044 DBA|XM:NM_000053 |NA:L25442 |NA:L25591 |NA:U03464 |NA:U11700 |NA:none PAC|XP:NP_000044 SYM|ATP7B NAM|ATPase, Cu++ transporting, beta polypeptide (Wilson disease) SYN|WND FNC|ATPase, Cu++ transporting, beta polypeptide (Wilson disease) |copper ion transport ; GO:0006825 |metabolism ; GO:0008152 |metal ion transport ; GO:0030001 REAB|The ATP7B gene encodes a polypeptide that acts as a membrane copper-transport protein.[supplied by OMIM] CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=84999 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=540[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120494 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000053 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000053 |http://www.geneclinics.org/query?mim=277900 |http://www.geneclinics.org/query?mim=606882 |http://www.ncbi.nlm.nih.gov/disease/Wilson.html |http://www.medgen.med.ualberta.ca/database.html DBL|UNIGENE:Hs.84999 |OMIM:606882 |SNP:540 |UWCM:120494.html ENZ|EC:3.6.1.36 |copper-exporting ATPase activity ; GO:0004008 |copper ion binding ; GO:0005507 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|13q14.2-q21 PHP|Wilson disease CEL|Golgi apparatus ; GO:0005794 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Atp7b; score == 2282; expect == 0.0; MEOW:MGgn0000639 (82%) |species == rat; score == 2252; expect == 0.0; MEOW:ref|NP_036643.1| (81%) |species == Human; gene == ATP7A; score == 1493; expect == 0.0; MEOW:HUgn0000538 (56%) |species == Mosquito; gene == LOC8866; score == 1021; expect == 0.0; MEOW:AGgn0008866 (48%) |species == Mosquito; score == 1021; expect == 0.0; MEOW:AGgn0026574 (48%) |species == Fruitfly; gene == CG1886; score == 984; expect == 0.0; MEOW:FBgn0030343 (47%) |species == rice; score == 659; expect == 0.0; MEOW:gnl|TIGR|8351.m00897 (39%) |species == Weed; gene == RAN1; score == 643; expect == 0.0; MEOW:ATgn0000635 (38%) |species == Weed; gene == RAN1; score == 624; expect == 8e-179; MEOW:ATgn0024543 (38%) |species == rice; score == 615; expect == 1e-175; MEOW:gnl|TIGR|8351.m00678 (36%) |species == rice; score == 565; expect == 2e-160; MEOW:gnl|TIGR|8352.m04350 (40%) |species == Yeast; gene == CCC2; score == 499; expect == 1e-141; MEOW:SGgn0002678 (32%) |species == ecoli; score == 424; expect == 2e-119; MEOW:ref|NP_415017.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0000541 CHR 1 5 DID 1 LocusLink:541 MAP 1 5q14 NAM 1 antiquitin-like 1 ORG 1 Homo sapiens SYM 1 ATQL1 ID|HUgn0000541 DID|LocusLink:541 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF002693 SYM|ATQL1 NAM|antiquitin-like 1 CHR|5 MAP|5q14 DBL|SNP:541 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6089500 } # EOR GENR { RETE|ID 1 HUgn0000542 DID 1 LocusLink:542 NAM 1 antiquitin-like 2 ORG 1 Homo sapiens SYM 1 ATQL2 ID|HUgn0000542 DID|LocusLink:542 ORG|Homo sapiens SYM|ATQL2 NAM|antiquitin-like 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6089504 } # EOR GENR { RETE|ID 1 HUgn0000543 CHR 1 7 DID 1 LocusLink:543 MAP 1 7q36 NAM 1 antiquitin-like 3 ORG 1 Homo sapiens SYM 1 ATQL3 ID|HUgn0000543 DID|LocusLink:543 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF002694 SYM|ATQL3 NAM|antiquitin-like 3 CHR|7 MAP|7q36 DBL|SNP:543 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6089506 } # EOR GENR { RETE|ID 1 HUgn0000544 CHR 1 10 DID 1 LocusLink:544 MAP 1 10q21 NAM 1 antiquitin-like 4 ORG 1 Homo sapiens SYM 1 ATQL4 ID|HUgn0000544 DID|LocusLink:544 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF002695 SYM|ATQL4 NAM|antiquitin-like 4 CHR|10 MAP|10q21 DBL|SNP:544 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6089507 } # EOR GENR { RETE|ID 1 HUgn0000545 CHR 1 3 DID 1 LocusLink:545 MAP 1 3q22-q24 NAM 1 ataxia telangiectasia and Rad3 related ORG 1 Homo sapiens SYM 1 ATR ID|HUgn0000545 DID|LocusLink:545 ORG|Homo sapiens RSQ|REFSEQ:NM_001184 RPA|REFPROT:NP_001175 DBA|XM:NM_001184 |NA:AF325699 |NA:U49844 |NA:U76308 |NA:Y09077 PAC|XP:NP_001175 SYM|ATR NAM|ataxia telangiectasia and Rad3 related SYN|FRP1 |SCKL |SCKL1 FNC|ataxia telangiectasia and Rad3 related protein |cell cycle checkpoint ; GO:0000075 |cell cycle ; GO:0007049 |DNA repair ; GO:0006281 |development ; GO:0007275 REAB|The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely |related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. |This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell |cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response |to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, |checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. |Mutations of this gene are associated with Seckel syndrome. An alternatively spliced |transcript variant of this gene has been reported, however, its full length nature |is not known. Transcript variants utilizing alternative polyA sites exist. CHR|3 PRD|Seckel syndrome |protein kinase ATR |Rad3 related protein |FRAP-related protein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77613 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=545[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835874 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001184 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001184 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.77613 |OMIM:210600 |OMIM:601215 |SNP:545 MAP|3q22-q24 PHP|Seckel syndrome1 ENZ|inositol/phosphatidylinositol kinase activity ; GO:0004428 |protein kinase activity ; GO:0004672 |transferase activity ; GO:0016740 HG|species == rat; score == 943; expect == 0.0; MEOW:ref|XP_236563.2| (91%) |species == rat; score == 838; expect == 0.0; MEOW:ref|XP_346006.1| (85%) |species == Mosquito; gene == LOC18055; score == 816; expect == 0.0; MEOW:AGgn0018055 (32%) |species == Weed; gene == At5g40820; score == 762; expect == 0.0; MEOW:ATgn0021362 (32%) |species == rice; score == 592; expect == 3e-168; MEOW:gnl|TIGR|8354.m04749 (32%) |species == Yeast; gene == MEC1; score == 397; expect == 2e-110; MEOW:SGgn0000340 (24%) |species == Worm; gene == atl-1; score == 250; expect == 6.1e-66; MEOW:CEgn0000096 (24%) |species == Human; gene == ATM; score == 228; expect == 4.8e-59; MEOW:HUgn0000472 (29%) |species == Mouse; gene == Atm; score == 226; expect == 1.2e-58; MEOW:MGgn0000577 (30%) |species == Fruitfly; gene == CG6535; score == 205; expect == 1.9e-52; MEOW:FBgn0038308 (25%) |species == Worm; gene == let-363; score == 201; expect == 4.3e-51; MEOW:CEgn0001414 (33%) |species == Mouse; gene == Frap1; score == 200; expect == 1.0e-50; MEOW:MGgn0015050 (32%) |species == Fruitfly; gene == Tor; score == 198; expect == 3.1e-50; MEOW:FBgn0021796 (32%) |species == Human; gene == FRAP1; score == 198; expect == 5.1e-50; MEOW:HUgn0002475 (31%) |species == Human; gene == SMG1; score == 186; expect == 1.6e-46; MEOW:HUgn0023049 (34%) } # EOR GENR { RETE|ID 1 HUgn0000546 CHR 1 X DID 1 LocusLink:546 MAP 1 Xq13.1-q21.1 NAM 1 alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ORG 1 Homo sapiens SYM 1 ATRX ID|HUgn0000546 DID|LocusLink:546 ORG|Homo sapiens RSQ|REFSEQ:NM_000489 |REFSEQ:NM_138270 |REFSEQ:NM_138271 RPA|REFPROT:NP_000480 |REFPROT:NP_612114 |REFPROT:NP_612115 DBA|XM:NM_000489 |XM:NM_138270 |XM:NM_138271 |NA:L34363 |NA:U72935 |NA:U75653 |NA:U97103 |NA:X83753 |NA:AB102641 |NA:U09820 |NA:U72936 |NA:U72937 |NA:U72938 |NA:none PAC|XP:NP_000480 |XP:NP_612114 |XP:NP_612115 SYM|ATRX NAM|alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) SYN|SHS |XH2 |XNP |ATR2 |MRXS3 |RAD54 |RAD54L |ZNF-HX FNC|transcriptional regulator ATRX isoform 1 |transcriptional regulator ATRX isoform 2 |transcriptional regulator ATRX isoform 3 |DNA methylation ; GO:0006306 |hearing ; GO:0007605 |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 |regulation of transcription, DNA-dependent ; GO:0006355 |DNA repair ; GO:0006281 |DNA recombination ; GO:0006310 REAB|The protein encoded by this gene contains an ATPase/helicase domain, and thus it |belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of |this gene are associated with an X-linked mental retardation (XLMR) syndrome most |often accompanied by alpha-thalassemia (ATRX) syndrome. Theses mutations have been |shown to cause diverse changes in the pattern of DNA methylation, which may provide |a link between chromatin remodeling, DNA methylation, and gene expression in developmental |processes. This protein is found to undergo cell cycle-dependent phosphorylation, |which regulates its nuclear matrix and chromatin association, and suggests its involvement |in the gene regulation at interphase and chromosomal segregation in mitosis. Three |alternatively spliced transcript variants encoding distinct isoforms have been reported. CHR|X PRD|Zinc finger helicase |helicase 2, X-linked |X-linked nuclear protein |RAD54 (Saccharomyces cerevisiae) |DNA dependent ATPase and helicase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440734 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=546[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136052 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138271 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138271 |http://www.geneclinics.org/query?mim=300032 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25179 DBL|UNIGENE:Hs.440734 |OMIM:300032 |SNP:546 |UWCM:136052.html MAP|Xq13.1-q21.1 PHP|Alpha-thalassemia/mental retardation syndrome |Juberg-Marsidi syndrome |Smith-Fineman-Myers syndrome |Sutherland-Haan syndrome ENZ|DNA helicase activity ; GO:0003678 |ATP binding ; GO:0005524 |transcription factor activity ; GO:0003700 |ATP dependent helicase activity ; GO:0008026 CEL|nuclear heterochromatin ; GO:0005720 |nucleus ; GO:0005634 HG|species == chimp; score == 3808; expect == 0.0; MEOW:sp|BAC81111|BAC81111 (99%) |species == Mouse; gene == Atrx; score == 3271; expect == 0.0; MEOW:MGgn0013103 (82%) |species == rat; score == 3114; expect == 0.0; MEOW:ref|XP_217570.2| (81%) |species == Mosquito; gene == LOC21890; score == 724; expect == 0.0; MEOW:AGgn0021890 (47%) |species == Fruitfly; gene == XNP; score == 640; expect == 0.0; MEOW:FBgn0039338 (47%) |species == Worm; gene == xnp-1; score == 553; expect == 4e-157; MEOW:CEgn0003071 (44%) |species == Weed; gene == At1g08600; score == 481; expect == 1e-135; MEOW:ATgn0002187 (38%) |species == Human; gene == SRISNF2L; score == 461; expect == 1e-129; MEOW:HUgn0023132 (40%) |species == rice; score == 359; expect == 9.7e-99; MEOW:gnl|TIGR|8362.m02424 (31%) |species == Yeast; gene == RDH54; score == 140; expect == 2.6e-33; MEOW:SGgn0000277 (31%) |species == Yeast; gene == RAD54; score == 139; expect == 7.6e-33; MEOW:SGgn0003131 (29%) |species == Yeast; gene == RAD26; score == 135; expect == 1.1e-31; MEOW:SGgn0003796 (36%) } # EOR GENR { RETE|ID 1 HUgn0000547 CHR 1 2 DID 1 LocusLink:547 MAP 1 2q37.3 NAM 1 axonal transport of synaptic vesicles ORG 1 Homo sapiens SYM 1 ATSV ID|HUgn0000547 DID|LocusLink:547 ORG|Homo sapiens RSQ|REFSEQ:NM_004321 RPA|REFPROT:NP_004312 DBA|XM:NM_004321 |NA:AF004425 |NA:AF038173 |NA:AF052089 |NA:AI878864 |NA:AK054791 |NA:BC009491 |NA:BC021199 |NA:BX537556 |NA:L79946 |NA:U37194 |NA:none PAC|XP:NP_004312 SYM|ATSV NAM|axonal transport of synaptic vesicles SYN|KIF1A |UNC104 |HUNC-104 FNC|axonal transport of synaptic vesicles REAB|The protein encoded by this gene is a member of the kinesin family. This protein |is highly similar to mouse heavy chain kinesin member 1A protein which is an anterograde |motor protein that transports membranous organelles along axonal microtubules. It |is thought that this protein may play a critical role in the development of axonal |neuropathies resulting from impaired axonal transport. There are multiple polyadenylation |sites found in this gene. CHR|2 PRD|kinesin, heavy chain, member 1A, homolog of mouse URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389765 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=547[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:700755 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004321 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004321 DBL|UNIGENE:Hs.389765 |OMIM:601255 |SNP:547 MAP|2q37.3 HG|species == Mouse; gene == Kif1a; score == 3107; expect == 0.0; MEOW:MGgn0006744 (96%) |species == Mosquito; gene == LOC24542; score == 1799; expect == 0.0; MEOW:AGgn0024542 (57%) |species == Fruitfly; gene == unc-104; score == 1780; expect == 0.0; MEOW:FBgn0034155 (56%) |species == rat; score == 1750; expect == 0.0; MEOW:ref|XP_343631.1| (79%) |species == Worm; gene == unc-104; score == 1370; expect == 0.0; MEOW:CEgn0002984 (53%) |species == Human; gene == KIF1B; score == 1278; expect == 0.0; MEOW:HUgn0023095 (78%) |species == Weed; gene == At3g44050; score == 256; expect == 6.1e-68; MEOW:ATgn0016049 (40%) |species == rice; score == 251; expect == 7.4e-66; MEOW:gnl|TIGR|8359.m03808 (39%) |species == Weed; gene == At4g14150; score == 243; expect == 5.3e-64; MEOW:ATgn0018796 (39%) |species == Weed; gene == At3g17360; score == 239; expect == 1.3e-62; MEOW:ATgn0014898 (41%) |species == Weed; gene == At3g23670; score == 238; expect == 2.9e-62; MEOW:ATgn0015577 (37%) |species == Weed; gene == At5g47820; score == 233; expect == 5.5e-61; MEOW:ATgn0021079 (37%) |species == Weed; gene == At5g60930; score == 231; expect == 2.7e-60; MEOW:ATgn0021561 (36%) |species == Weed; gene == At3g19050; score == 230; expect == 4.7e-60; MEOW:ATgn0016506 (39%) |species == Weed; gene == At3g50240; score == 228; expect == 1.8e-59; MEOW:ATgn0015906 (35%) |species == rice; score == 224; expect == 1.8e-58; MEOW:gnl|TIGR|8360.m04838 (33%) |species == rice; score == 219; expect == 2.4e-56; MEOW:gnl|TIGR|8351.m04852 (35%) |species == rice; score == 215; expect == 4.5e-55; MEOW:gnl|TIGR|8357.m00104 (34%) |species == Yeast; gene == KIP3; score == 214; expect == 1.3e-55; MEOW:SGgn0003184 (40%) |species == Zfish; gene == kif11; score == 212; expect == 8.5e-56; MEOW:ZFgn0002546 (35%) |species == rice; score == 212; expect == 2.9e-54; MEOW:gnl|TIGR|8350.m03868 (34%) |species == Weed; gene == At1g18550; score == 211; expect == 2.9e-54; MEOW:ATgn0006917 (32%) |species == Weed; gene == At5g27000; score == 209; expect == 8.5e-54; MEOW:ATgn0024938 (35%) |species == rice; score == 204; expect == 1.0e-51; MEOW:gnl|TIGR|8360.m01737 (35%) |species == rice; score == 203; expect == 1.8e-51; MEOW:gnl|TIGR|8360.m05035 (35%) |species == Yeast; gene == KIP1; score == 199; expect == 4.2e-51; MEOW:SGgn0000159 (33%) |species == Zfish; gene == kifc1; score == 186; expect == 6.5e-48; MEOW:ZFgn0000700 (33%) } # EOR GENR { RETE|ID 1 HUgn0000549 CHR 1 9 DID 1 LocusLink:549 MAP 1 9q22.31 NAM 1 AU RNA binding protein/enoyl-Coenzyme A hydratase ORG 1 Homo sapiens SYM 1 AUH ID|HUgn0000549 DID|LocusLink:549 ORG|Homo sapiens RSQ|REFSEQ:NM_001698 RPA|REFPROT:NP_001689 DBA|XM:NM_001698 |NA:BC020722 |NA:X79888 PAC|XP:NP_001689 SYM|AUH NAM|AU RNA binding protein/enoyl-Coenzyme A hydratase FNC|AU RNA-binding protein/enoyl-Coenzyme A hydratase precursor |mRNA catabolism ; GO:0006402 REAB|AU-specific RNA-binding enoyl-CoA hydratase (AUH) protein binds to the AU-rich element |(ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, |c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved |in directing RNA to rapid degradation and deadenylation. AUH is also homologous |to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been |shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional |chimera between RNA binding and metabolic enzyme activity. A possible subcellular |localization in the mitochondria has been demonstrated for the mouse homolog of |this protein which shares 92% identity with the human protein. It has been suggested |that AUH may have a novel role as a mitochondrial located AU-binding protein. Human |AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa |precursor protein which is subsequently processed to a 32-kDa mature form. CHR|9 PRD|MGA Type I |3-methylglutaconyl-CoA hydratase |AU RNA-binding protein/enoyl-Coenzyme A hydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81886 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=549[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:572838 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001698 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001698 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81886 |http://www.geneclinics.org/query?mim=600529 DBL|UNIGENE:Hs.81886 |OMIM:600529 |SNP:549 MAP|9q22.31 PHP|3-methylglutaconic aciduria, type I ENZ|enoyl-CoA hydratase activity ; GO:0004300 |mRNA 3' UTR binding ; GO:0003730 HG|species == Mouse; gene == Auh; score == 504; expect == 2e-143; MEOW:MGgn0000652 (87%) |species == rat; score == 503; expect == 6e-143; MEOW:ref|XP_341498.1| (88%) |species == Fruitfly; gene == CG8778; score == 282; expect == 1.8e-76; MEOW:FBgn0033761 (59%) |species == Mosquito; score == 274; expect == 3.3e-74; MEOW:AGgn0008182 (61%) |species == Human; gene == FLJ10948; score == 242; expect == 1.3e-64; MEOW:HUgn0055268 (45%) |species == Worm; gene == F56B3.5; score == 215; expect == 2.5e-56; MEOW:CEgn0012048 (48%) |species == rice; score == 213; expect == 8.9e-56; MEOW:gnl|TIGR|8351.m04118 (41%) |species == Weed; gene == At4g16800; score == 198; expect == 3.1e-51; MEOW:ATgn0017926 (49%) |species == rice; score == 181; expect == 4.8e-46; MEOW:gnl|TIGR|8351.m04117 (42%) } # EOR GENR { RETE|ID 1 HUgn0000550 CHR 1 2 DID 1 LocusLink:550 MAP 1 2p13 NAM 1 ancient ubiquitous protein 1 ORG 1 Homo sapiens SYM 1 AUP1 ID|HUgn0000550 DID|LocusLink:550 ORG|Homo sapiens RSQ|REFSEQ:NM_012103 |REFSEQ:NM_181575 |REFSEQ:NM_181576 RPA|REFPROT:NP_036235 |REFPROT:NP_853553 |REFPROT:NP_853554 DBA|XM:NM_012103 |XM:NM_181575 |XM:NM_181576 |NA:AF100746 |NA:AF100753 |NA:AF100754 |NA:AF165515 |NA:AK023983 |NA:AK055566 |NA:BC001658 |NA:BC033646 |NA:none PAC|XP:NP_036235 |XP:NP_853553 |XP:NP_853554 SYM|AUP1 NAM|ancient ubiquitous protein 1 FNC|ancient ubiquitous protein 1 isoform 1 |ancient ubiquitous protein 1 isoform 2 |ancient ubiquitous protein 1 isoform 3 REAB|This gene encodes a protein that contains a domain with homology to the ancient conserved |region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating |enzymes. The protein encoded by this gene has been shown to bind to the conserved |membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. |These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out |signalling in platelets and megakaryocytes that leads to platelet aggregation and |thrombus formation. This gene overlaps the gene for mitochondrial serine protease |25. Three alternative transcripts encoding distinct isoforms have been described. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=411480 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=550[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1316853 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012103 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012103 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=411480 DBL|UNIGENE:Hs.411480 |OMIM:602434 |SNP:550 MAP|2p13 ENZ|molecular_function unknown ; GO:0005554 HG|species == rat; score == 484; expect == 6e-137; MEOW:ref|XP_216179.2| (90%) |species == Mouse; gene == Aup1; score == 474; expect == 3e-134; MEOW:MGgn0000653 (89%) } # EOR GENR { RETE|ID 1 HUgn0000551 CHR 1 20 DID 1 LocusLink:551 MAP 1 20p13 NAM 1 arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) ORG 1 Homo sapiens SYM 1 AVP ID|HUgn0000551 DID|LocusLink:551 ORG|Homo sapiens RSQ|REFSEQ:NM_000490 RPA|REFPROT:NP_000481 DBA|XM:NM_000490 |NA:M11166 |NA:M63733 |NA:M63734 |NA:X62890 |NA:X62891 |NA:AF031475 |NA:AF031476 |NA:M25647 |NA:X03172 |NA:none PAC|XP:NP_000481 SYM|AVP NAM|arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) SYN|VP |ADH |ARVP |AVRP |AVP-NPII FNC|arginine vasopressin-neurophysin II preproprotein |water transport ; GO:0006833 |regulation of blood pressure ; GO:0008217 |energy pathways ; GO:0006091 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|This gene encodes a precursor protein consisting of arginine vasopressin and two |associated proteins, neurophysin II and a glycopeptide, copeptin. Arginine vasopressin |is a posterior pituitary hormone which is synthesized in the supraoptic nucleus |and paraventricular nucleus of the hypothalamus. Along with its carrier protein, |neurophysin II, it is packaged into neurosecretory vesicles and transported axonally |to the nerve endings in the neurohypophysis where it is either stored or secreted |into the bloodstream. The precursor is thought to be activated while it is being |transported along the axon to the posterior pituitary. Arginine vasopressin acts |as a growth factor by enhancing pH regulation through acid-base transport systems. |It has a direct antidiuretic action on the kidney, and also causes vasoconstriction |of the peripheral vessels. This hormone can contract smooth muscle during parturition |and lactation. It is also involved in cognition, tolerance, adaptation and complex |sexual and maternal behaviour, as well as in the regulation of water excretion and |cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal |diabetes insipidus (ADNDI). CHR|20 PRD|vasopressin-neurophysin II-copeptin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89648 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=551[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119009 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000490 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000490 |http://www.geneclinics.org/query?mim=192340 DBL|UNIGENE:Hs.89648 |OMIM:192340 |SNP:551 |UWCM:119009.html MAP|20p13 PHP|Diabetes insipidus, neurohypophyseal CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 ENZ|neurohypophyseal hormone activity ; GO:0005185 HG|species == Mouse; gene == Avp; score == 290; expect == 1.6e-79; MEOW:MGgn0000658 (81%) |species == rat; score == 287; expect == 2.0e-78; MEOW:ref|NP_058688.1| (80%) |species == Human; gene == OXT; score == 204; expect == 2.3e-53; MEOW:HUgn0005020 (75%) } # EOR GENR { RETE|ID 1 HUgn0000552 CHR 1 12 DID 1 LocusLink:552 MAP 1 12q14-q15 NAM 1 arginine vasopressin receptor 1A ORG 1 Homo sapiens SYM 1 AVPR1A ID|HUgn0000552 DID|LocusLink:552 ORG|Homo sapiens RSQ|REFSEQ:NM_000706 RPA|REFPROT:NP_000697 DBA|XM:NM_000706 |NA:AF208541 |NA:U19906 |NA:Z59305 |NA:AF030625 |NA:AF101725 |NA:AY322550 |NA:L25615 |NA:S73899 |NA:none PAC|XP:NP_000697 SYM|AVPR1A NAM|arginine vasopressin receptor 1A SYN|AVPR1 FNC|arginine vasopressin receptor 1A |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 |energy pathways ; GO:0006091 REAB|The protein encoded by this gene acts as receptor for arginine vasopressin. This |receptor belongs to the subfamily of G-protein coupled receptors which includes |AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate |a phosphatidylinositol-calcium second messenger system. The receptor mediates cell |contraction and proliferation, platelet aggregation, release of coagulation factor |and glycogenolysis. CHR|12 PRD|V1a vasopressin receptor |antidiuretic hormone receptor 1A |SCCL vasopressin subtype 1a receptor |V1-vascular vasopressin receptor AVPR1A |vascular/hepatic-type arginine vasopressin receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2131 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=552[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131474 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000706 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000706 DBL|UNIGENE:Hs.2131 |OMIM:600821 |SNP:552 MAP|12q14-q15 ENZ|vasopressin receptor activity ; GO:0005000 |protein kinase C binding ; GO:0005080 |rhodopsin-like receptor activity ; GO:0001584 CEL|endosome ; GO:0005768 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Avpr1a; score == 701; expect == 0.0; MEOW:MGgn0014093 (83%) |species == rat; score == 696; expect == 0.0; MEOW:ref|NP_444178.2| (83%) |species == Human; gene == AVPR1B; score == 359; expect == 1.8e-99; MEOW:HUgn0000553 (54%) |species == Human; gene == OXTR; score == 352; expect == 2.2e-97; MEOW:HUgn0005021 (51%) |species == chimp; score == 290; expect == 2.5e-80; MEOW:sp|Q8HZF5|Q8HZF5 (53%) |species == Fruitfly; gene == CcapR; score == 163; expect == 2.3e-40; MEOW:FBgn0039396 (28%) |species == Mosquito; gene == LOC18402; score == 157; expect == 7.6e-39; MEOW:AGgn0018402 (32%) |species == Mosquito; score == 154; expect == 4.9e-38; MEOW:AGgn0018409 (28%) |species == Mosquito; gene == LOC19362; score == 149; expect == 3.0e-36; MEOW:AGgn0019362 (29%) |species == Fruitfly; gene == GRHR; score == 147; expect == 8.9e-36; MEOW:FBgn0025595 (31%) |species == Worm; gene == T07D10.2; score == 133; expect == 1.4e-31; MEOW:CEgn0015708 (29%) } # EOR GENR { RETE|ID 1 HUgn0000553 CHR 1 1 DID 1 LocusLink:553 MAP 1 1q32 NAM 1 arginine vasopressin receptor 1B ORG 1 Homo sapiens SYM 1 AVPR1B ID|HUgn0000553 DID|LocusLink:553 ORG|Homo sapiens RSQ|REFSEQ:NM_000707 RPA|REFPROT:NP_000698 DBA|NA:AF152238 |NA:AF030512 |NA:AF101726 |NA:D31833 |NA:L37112 |NA:none SYM|AVPR1B NAM|arginine vasopressin receptor 1B SYN|AVPR3 FNC|arginine vasopressin receptor 1B |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|The protein encoded by this gene acts as receptor for arginine vasopressin. This |receptor belongs to the subfamily of G-protein coupled receptors which includes |AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate |a phosphatidylinositol-calcium second messenger system. The receptor is primarily |located in the anterior pituitary, where it stimulates ACTH release. It is expressed |at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids |responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this |gene has been reported but its function is not known. CHR|1 PRD|vasopressin V1B receptor |arginine vasopressin receptor 3 |antidiuretic hormone receptor 1B |pituitary vasopressin receptor 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1372 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595004 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000707 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000707 DBL|UNIGENE:Hs.1372 |OMIM:600264 |SNP:553 MAP|1q32 ENZ|vasopressin receptor activity ; GO:0005000 |protein kinase C binding ; GO:0005080 |rhodopsin-like receptor activity ; GO:0001584 CEL|endosome ; GO:0005768 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Avpr1b; score == 644; expect == 0.0; MEOW:MGgn0000660 (81%) |species == rat; score == 625; expect == 1e-179; MEOW:ref|NP_058901.1| (80%) |species == Human; gene == AVPR1A; score == 359; expect == 1.8e-99; MEOW:HUgn0000552 (54%) |species == Human; gene == OXTR; score == 344; expect == 6.1e-95; MEOW:HUgn0005021 (53%) |species == chimp; score == 291; expect == 3.7e-79; MEOW:sp|Q8HZF5|Q8HZF5 (55%) |species == Fruitfly; gene == CcapR; score == 166; expect == 2.8e-41; MEOW:FBgn0039396 (32%) |species == Mosquito; gene == LOC18402; score == 146; expect == 1.0e-35; MEOW:AGgn0018402 (33%) |species == Mosquito; score == 145; expect == 3.0e-35; MEOW:AGgn0018409 (32%) |species == Fruitfly; gene == GRHR; score == 142; expect == 3.7e-34; MEOW:FBgn0025595 (27%) |species == Mosquito; gene == LOC19362; score == 141; expect == 8.1e-34; MEOW:AGgn0019362 (29%) } # EOR GENR { RETE|ID 1 HUgn0000554 CHR 1 X DID 1 LocusLink:554 MAP 1 Xq28 NAM 1 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ORG 1 Homo sapiens SYM 1 AVPR2 ID|HUgn0000554 DID|LocusLink:554 ORG|Homo sapiens RSQ|REFSEQ:NM_000054 RPA|REFPROT:NP_000045 DBA|XM:NM_000054 |NA:L22206 |NA:U04357 |NA:AF030626 |NA:AF032388 |NA:AF101727 |NA:AF101728 |NA:AY242131 |NA:BC015746 |NA:BC033090 |NA:BC041642 |NA:Z11687 |NA:none PAC|XP:NP_000045 SYM|AVPR2 NAM|arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) SYN|DI1 |DIR |NDI |V2R |ADHR FNC|arginine vasopressin receptor 2 |hemostasis ; GO:0007599 |adenylate cyclase activation ; GO:0007190 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |excretion ; GO:0007588 |signal transduction ; GO:0007165 REAB|The human AVPR2 locus encodes the vasopressin receptor, type 2, also known as the |V2 receptor, located in cytogenetic band Xq28. The gene's three exons and two introns |are contained within 2.1 kilobases. The L1CAM gene lies some 29 kb centromeric |to AVPR2, and the C1 gene immediately teleomeric. Both are apparently transcribed |in opposite orientation to AVPR2 (see NID g1302657). The AVPR2 protein product belongs |to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, |and it couples to Gs thus stimulating adenylate cyclase. The subfamily that includes |the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, |and isotocin and mesotocin receptors in non-mammals, is well conserved, though several |members signal via other G proteins. All bind similar cyclic nonapeptide hormones. |The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted |tubule and collecting ducts, where its primary property is to respond to the pituitary |hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the |urine and maintain water homeostasis in the organism. When the function of this |gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 |receptor is also expressed outside the kidney although its tissue localization is |uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 |selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. | The physiologic importance of this property is not known - its absence does not |appear to be detrimental in NDI patients. AVPR2 expression has also been described |in fetal lung tissue and lung cancer associated with alternative splicing. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2524 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=554[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131475 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000054 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000054 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2524 |http://www.geneclinics.org/query?mim=304800 DBL|UNIGENE:Hs.2524 |OMIM:304800 |SNP:554 |UWCM:131475.html MAP|Xq28 PHP|Diabetes insipidus, nephrogenic ENZ|vasopressin receptor activity ; GO:0005000 |rhodopsin-like receptor activity ; GO:0001584 CEL|endosome ; GO:0005768 |Golgi apparatus ; GO:0005794 |endoplasmic reticulum ; GO:0005783 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Avpr2; score == 550; expect == 6e-157; MEOW:MGgn0000661 (87%) |species == rat; score == 543; expect == 8e-155; MEOW:ref|NP_062009.1| (87%) |species == Human; gene == AVPR1B; score == 261; expect == 4.0e-70; MEOW:HUgn0000553 (46%) |species == Human; gene == OXTR; score == 244; expect == 5.9e-65; MEOW:HUgn0005021 (44%) |species == Human; gene == AVPR1A; score == 240; expect == 1.2e-63; MEOW:HUgn0000552 (40%) |species == chimp; score == 197; expect == 5.5e-51; MEOW:sp|Q8HZF5|Q8HZF5 (43%) |species == Mosquito; gene == LOC18402; score == 148; expect == 2.3e-36; MEOW:AGgn0018402 (35%) |species == Fruitfly; gene == CcapR; score == 144; expect == 1.1e-34; MEOW:FBgn0039396 (29%) |species == Mosquito; gene == LOC19362; score == 132; expect == 3.8e-31; MEOW:AGgn0019362 (29%) |species == Worm; gene == T07D10.2; score == 131; expect == 7.0e-31; MEOW:CEgn0015708 (27%) } # EOR GENR { RETE|ID 1 HUgn0000555 CHR 1 16 DID 1 LocusLink:555 MAP 1 16 NAM 1 antiviral state regulator ORG 1 Homo sapiens SYM 1 AVR ID|HUgn0000555 DID|LocusLink:555 ORG|Homo sapiens SYM|AVR NAM|antiviral state regulator CHR|16 MAP|16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119026 } # EOR GENR { RETE|ID 1 HUgn0000556 CHR 1 5 DID 1 LocusLink:556 MAP 1 5p NAM 1 antiviral state repressor regulator ORG 1 Homo sapiens SYM 1 AVRR ID|HUgn0000556 DID|LocusLink:556 ORG|Homo sapiens SYM|AVRR NAM|antiviral state repressor regulator CHR|5 DBL|OMIM:107440 MAP|5p URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119721 } # EOR GENR { RETE|ID 1 HUgn0000558 CHR 1 19 DID 1 LocusLink:558 MAP 1 19q13.1 NAM 1 AXL receptor tyrosine kinase ORG 1 Homo sapiens SYM 1 AXL ID|HUgn0000558 DID|LocusLink:558 ORG|Homo sapiens RSQ|REFSEQ:NM_001699 |REFSEQ:NM_021913 RPA|REFPROT:NP_001690 |REFPROT:NP_068713 DBA|XM:NM_001699 |XM:NM_021913 |NA:X66030 |NA:BC032229 |NA:M76125 |NA:S65125 |NA:X57019 |NA:X66029 |NA:none PAC|XP:NP_001690 |XP:NP_068713 SYM|AXL NAM|AXL receptor tyrosine kinase SYN|UFO FNC|AXL receptor tyrosine kinase isoform 1 |AXL receptor tyrosine kinase isoform 2 REAB|The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. |Although it is similar to other receptor tyrosine kinases, the Axl protein represents |a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. |It transduce signals from the extracellular matrix into the cytoplasm by binding |growth factors like vitamin K-dependent protein growth-arrest-specific gene 6. It |is involved in the stimulation of cell proliferation. This receptor can also mediate |cell aggregation by homophilic binding. Axl is a chronic myelogenous leukemia-associated |oncogene and also associated with colon cancer and melanoma. It is in close vicinity |to the bcl3 oncogene which is at 19q13.1-q13.2. The Axl gene is evolutionarily conserved |between vertebrate species. This gene has two different alternatively spliced transcript |variants. CHR|19 PRD|oncogene AXL |AXL transforming sequence/gene URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83341 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=558[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133764 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021913 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021913 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83341 DBL|UNIGENE:Hs.83341 |OMIM:109135 |SNP:558 ENZ|EC:2.7.1.112 MAP|19q13.1 HG|species == rat; score == 1548; expect == 0.0; MEOW:ref|XP_218346.2| (88%) |species == Mouse; gene == Axl; score == 1525; expect == 0.0; MEOW:MGgn0000668 (87%) |species == Human; gene == TYRO3; score == 657; expect == 0.0; MEOW:HUgn0007301 (44%) |species == Human; gene == MERTK; score == 614; expect == 6e-176; MEOW:HUgn0010461 (43%) |species == Zfish; gene == dtk; score == 567; expect == 8e-162; MEOW:ZFgn0000585 (40%) |species == Fruitfly; gene == Alk; score == 215; expect == 5.9e-56; MEOW:FBgn0040505 (40%) |species == Mosquito; gene == LOC9228; score == 211; expect == 1.1e-54; MEOW:AGgn0009228 (40%) |species == Worm; gene == abl-1; score == 210; expect == 1.7e-54; MEOW:CEgn0000002 (42%) |species == Mosquito; gene == LOC2451; score == 207; expect == 1.2e-53; MEOW:AGgn0002451 (43%) |species == Mosquito; gene == LOC13218; score == 204; expect == 1.3e-52; MEOW:AGgn0013218 (38%) |species == Worm; gene == F11E6.8; score == 204; expect == 8.0e-53; MEOW:CEgn0008228 (38%) |species == Fruitfly; gene == Ret; score == 204; expect == 1.4e-52; MEOW:FBgn0011829 (39%) |species == Mosquito; score == 203; expect == 1.7e-52; MEOW:AGgn0004762 (37%) |species == Mosquito; score == 203; expect == 2.2e-52; MEOW:AGgn0010617 (37%) |species == Fruitfly; gene == htl; score == 202; expect == 5.2e-52; MEOW:FBgn0010389 (39%) |species == Fruitfly; gene == InR; score == 201; expect == 8.9e-52; MEOW:FBgn0013984 (40%) |species == Fruitfly; gene == Abl; score == 198; expect == 5.7e-51; MEOW:FBgn0000017 (36%) |species == Fruitfly; gene == sev; score == 197; expect == 1.3e-50; MEOW:FBgn0003366 (38%) |species == Fruitfly; gene == Nrk; score == 196; expect == 2.2e-50; MEOW:FBgn0020391 (35%) |species == Mosquito; gene == LOC3182; score == 193; expect == 2.3e-49; MEOW:AGgn0003182 (37%) |species == Mosquito; gene == LOC7679; score == 193; expect == 3.0e-49; MEOW:AGgn0007679 (36%) |species == Mosquito; score == 193; expect == 2.3e-49; MEOW:AGgn0026153 (37%) |species == Mosquito; gene == LOC19144; score == 191; expect == 1.1e-48; MEOW:AGgn0019144 (37%) |species == Fruitfly; gene == Cad96Ca; score == 191; expect == 7.0e-49; MEOW:FBgn0022800 (37%) |species == Fruitfly; gene == btl; score == 189; expect == 3.5e-48; MEOW:FBgn0005592 (37%) |species == Fruitfly; gene == Ror; score == 187; expect == 1.7e-47; MEOW:FBgn0010407 (37%) |species == Worm; gene == egl-15; score == 184; expect == 1.7e-46; MEOW:CEgn0000492 (35%) |species == Worm; gene == src-2; score == 184; expect == 1.0e-46; MEOW:CEgn0026958 (38%) |species == Mosquito; score == 183; expect == 2.4e-46; MEOW:AGgn0007421 (36%) |species == Worm; gene == F58A3.2d; score == 181; expect == 1.4e-45; MEOW:CEgn0032211 (35%) |species == Worm; gene == T14E8.1a; score == 177; expect == 2.9e-44; MEOW:CEgn0029642 (34%) |species == Worm; gene == T14E8.1b; score == 177; expect == 2.8e-44; MEOW:CEgn0029643 (34%) |species == chimp; score == 177; expect == 5.3e-46; MEOW:sp|BAC78172|BAC78172 (36%) |species == Worm; gene == scd-2; score == 172; expect == 3.9e-43; MEOW:CEgn0002514 (36%) |species == Worm; gene == R151.4a; score == 168; expect == 9.7e-42; MEOW:CEgn0034207 (35%) |species == rice; score == 141; expect == 5.4e-33; MEOW:gnl|TIGR|8354.m04232 (30%) |species == Weed; gene == At2g24360; score == 133; expect == 5.1e-31; MEOW:ATgn0008622 (29%) } # EOR GENR { RETE|ID 1 HUgn0000559 CHR 1 1 DID 1 LocusLink:559 MAP 1 1q31-q32 NAM 1 ataxia, posterior column 1, with retinitis pigmentosa ORG 1 Homo sapiens SYM 1 AXPC1 ID|HUgn0000559 DID|LocusLink:559 ORG|Homo sapiens SYM|AXPC1 NAM|ataxia, posterior column 1, with retinitis pigmentosa SYN|PCA CHR|1 MAP|1q31-q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862760 } # EOR GENR { RETE|ID 1 HUgn0000560 CHR 1 Y DID 1 LocusLink:560 MAP 1 Yq11 NAM 1 azoospermia factor 1 ORG 1 Homo sapiens SYM 1 AZF1 ID|HUgn0000560 DID|LocusLink:560 ORG|Homo sapiens DBA|NA:AC007320 SYM|AZF1 NAM|azoospermia factor 1 SYN|AZF |SP3 |AZFA CHR|Y DBL|OMIM:415000 |UWCM:119027.html MAP|Yq11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119027 |http://www.geneclinics.org/query?mim=415000 } # EOR GENR { RETE|ID 1 HUgn0000561 CHR 1 Y DID 1 LocusLink:561 MAP 1 Y NAM 1 azoospermia factor 2 ORG 1 Homo sapiens SYM 1 AZF2 ID|HUgn0000561 DID|LocusLink:561 ORG|Homo sapiens SYM|AZF2 NAM|azoospermia factor 2 CHR|Y DBL|OMIM:400000 MAP|Y URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:456131 } # EOR GENR { RETE|ID 1 HUgn0000562 CHR 1 14 DID 1 LocusLink:562 MAP 1 14q NAM 1 benign chorea ORG 1 Homo sapiens SYM 1 BCH ID|HUgn0000562 DID|LocusLink:562 ORG|Homo sapiens SYM|BCH NAM|benign chorea SYN|BHC CHR|14 PRD|chorea, hereditary benign DBL|OMIM:118700 MAP|14q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118758 } # EOR GENR { RETE|ID 1 HUgn0000563 CHR 1 7 DID 1 LocusLink:563 MAP 1 7q22.1 NAM 1 alpha-2-glycoprotein 1, zinc ORG 1 Homo sapiens SYM 1 AZGP1 ID|HUgn0000563 DID|LocusLink:563 ORG|Homo sapiens RSQ|REFSEQ:NM_001185 RPA|REFPROT:NP_001176 DBA|XM:NM_001185 |XM:NM_001185 |NA:X69953 |NA:AI678968 |NA:BC005306 |NA:BC005908 |NA:BC033830 |NA:BM796305 |NA:D90427 |NA:M76707 |NA:X59766 |NA:none PAC|XP:NP_001176 |XP:NP_001176 SYM|AZGP1 NAM|alpha-2-glycoprotein 1, zinc SYN|ZAG |ZA2G FNC|alpha-2-glycoprotein 1, zinc |immune response ; GO:0006955 CHR|7 PRD|Alpha-2-glycoprotein, zinc URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512643 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=563[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128308 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001185 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001185 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=512643 DBL|UNIGENE:Hs.512643 |OMIM:194460 |SNP:563 MAP|7q22.1 CEL|membrane ; GO:0016020 |soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == rat; score == 368; expect == 2e-102; MEOW:ref|NP_036958.1| (61%) |species == Mouse; gene == Azgp1; score == 359; expect == 1e-99; MEOW:MGgn0000669 (60%) |species == Human; gene == HLA-B; score == 204; expect == 4.7e-53; MEOW:HUgn0003106 (39%) |species == chimp; score == 203; expect == 1.8e-52; MEOW:sp|Q9MXK4|Q9MXK4 (39%) |species == chimp; score == 202; expect == 3.0e-52; MEOW:sp|Q9MXH3|Q9MXH3 (38%) |species == chimp; score == 201; expect == 1.0e-53; MEOW:sp|P13751|1B02_PANTR (37%) |species == chimp; score == 201; expect == 1.0e-53; MEOW:sp|P16210|1A02_PANTR (37%) |species == chimp; score == 201; expect == 5.2e-52; MEOW:sp|Q8MHG2|Q8MHG2 (38%) |species == chimp; score == 201; expect == 7.9e-54; MEOW:sp|Q95529|Q95529 (38%) |species == chimp; score == 201; expect == 7.9e-54; MEOW:sp|Q9MXJ8|Q9MXJ8 (38%) |species == chimp; score == 201; expect == 1.0e-53; MEOW:sp|Q9MXK0|Q9MXK0 (37%) |species == chimp; score == 201; expect == 4.0e-52; MEOW:sp|Q9MXK1|Q9MXK1 (38%) |species == chimp; score == 201; expect == 5.2e-52; MEOW:sp|Q9MXM0|Q9MXM0 (37%) |species == chimp; score == 199; expect == 2.0e-51; MEOW:sp|Q9MXH5|Q9MXH5 (38%) |species == chimp; score == 199; expect == 1.5e-51; MEOW:sp|Q9MXI0|Q9MXI0 (38%) |species == chimp; score == 199; expect == 2.0e-51; MEOW:sp|Q9MXI2|Q9MXI2 (37%) |species == chimp; score == 199; expect == 2.0e-51; MEOW:sp|Q9MXI3|Q9MXI3 (37%) |species == chimp; score == 199; expect == 1.5e-51; MEOW:sp|Q9MXL9|Q9MXL9 (38%) |species == chimp; score == 198; expect == 5.7e-51; MEOW:sp|Q30915|Q30915 (38%) |species == chimp; score == 198; expect == 5.8e-51; MEOW:sp|Q8WLN0|Q8WLN0 (39%) |species == chimp; score == 198; expect == 3.3e-51; MEOW:sp|Q95530|Q95530 (37%) |species == chimp; score == 198; expect == 4.4e-51; MEOW:sp|Q9MXH0|Q9MXH0 (38%) |species == chimp; score == 198; expect == 5.7e-51; MEOW:sp|Q9MXH1|Q9MXH1 (37%) |species == chimp; score == 198; expect == 4.4e-51; MEOW:sp|Q9MXK5|Q9MXK5 (37%) |species == chimp; score == 198; expect == 5.7e-51; MEOW:sp|Q9MXL3|Q9MXL3 (39%) |species == chimp; score == 198; expect == 5.7e-51; MEOW:sp|Q9TPL5|Q9TPL5 (37%) |species == chimp; score == 197; expect == 9.8e-51; MEOW:sp|Q9MXD1|Q9MXD1 (37%) |species == chimp; score == 196; expect == 2.2e-50; MEOW:sp|Q30912|Q30912 (39%) |species == chimp; score == 196; expect == 2.1e-50; MEOW:sp|Q30913|Q30913 (39%) |species == chimp; score == 196; expect == 1.7e-50; MEOW:sp|Q9MXC8|Q9MXC8 (38%) |species == chimp; score == 196; expect == 1.7e-50; MEOW:sp|Q9MXH4|Q9MXH4 (37%) |species == chimp; score == 196; expect == 2.2e-50; MEOW:sp|Q9MXI9|Q9MXI9 (39%) |species == chimp; score == 196; expect == 2.2e-50; MEOW:sp|Q9MXJ0|Q9MXJ0 (39%) |species == chimp; score == 196; expect == 2.2e-50; MEOW:sp|Q9MXK7|Q9MXK7 (39%) |species == chimp; score == 196; expect == 2.2e-50; MEOW:sp|Q9MXL4|Q9MXL4 (39%) |species == chimp; score == 196; expect == 1.7e-50; MEOW:sp|Q9MXL8|Q9MXL8 (38%) |species == chimp; score == 195; expect == 2.9e-50; MEOW:sp|AAF72775|AAF72775 (39%) |species == chimp; score == 195; expect == 2.9e-50; MEOW:sp|P16209|1A01_PANTR (39%) |species == chimp; score == 195; expect == 3.3e-50; MEOW:sp|Q30990|Q30990 (39%) |species == chimp; score == 195; expect == 3.8e-50; MEOW:sp|Q9TPL7|Q9TPL7 (39%) |species == chimp; score == 194; expect == 8.2e-50; MEOW:sp|Q30916|Q30916 (37%) |species == chimp; score == 194; expect == 4.9e-50; MEOW:sp|Q9MXI1|Q9MXI1 (38%) |species == chimp; score == 194; expect == 8.4e-50; MEOW:sp|Q9MXK6|Q9MXK6 (37%) |species == chimp; score == 194; expect == 6.4e-50; MEOW:sp|Q9MXM2|Q9MXM2 (37%) |species == chimp; score == 194; expect == 8.4e-50; MEOW:sp|Q9TPL2|Q9TPL2 (37%) |species == chimp; score == 194; expect == 4.9e-50; MEOW:sp|Q9TPL6|Q9TPL6 (37%) |species == chimp; score == 193; expect == 1.4e-49; MEOW:sp|Q30914|Q30914 (37%) |species == chimp; score == 193; expect == 1.8e-49; MEOW:sp|Q30918|Q30918 (38%) |species == chimp; score == 193; expect == 1.1e-49; MEOW:sp|Q8MHG3|Q8MHG3 (37%) |species == chimp; score == 193; expect == 1.4e-49; MEOW:sp|Q9MXI6|Q9MXI6 (38%) |species == chimp; score == 193; expect == 1.8e-49; MEOW:sp|Q9MXK8|Q9MXK8 (38%) |species == chimp; score == 193; expect == 1.4e-49; MEOW:sp|Q9MXK9|Q9MXK9 (37%) |species == Human; gene == HLA-A; score == 192; expect == 1.9e-49; MEOW:HUgn0003105 (38%) |species == chimp; score == 192; expect == 3.2e-49; MEOW:sp|AAF72773|AAF72773 (38%) |species == chimp; score == 192; expect == 3.2e-49; MEOW:sp|AAM49754|AAM49754 (38%) |species == chimp; score == 192; expect == 3.2e-49; MEOW:sp|P13748|1A03_PANTR (38%) |species == chimp; score == 192; expect == 2.4e-49; MEOW:sp|Q30988|Q30988 (37%) |species == chimp; score == 192; expect == 3.2e-49; MEOW:sp|Q9MXM3|Q9MXM3 (38%) |species == Human; gene == HFE; score == 191; expect == 4.1e-49; MEOW:HUgn0003077 (36%) |species == chimp; score == 191; expect == 4.2e-49; MEOW:sp|BAC78164|BAC78164 (37%) |species == chimp; score == 191; expect == 4.1e-49; MEOW:sp|Q30917|Q30917 (37%) |species == chimp; score == 191; expect == 6.9e-49; MEOW:sp|Q30933|Q30933 (37%) |species == chimp; score == 191; expect == 5.2e-49; MEOW:sp|Q95528|Q95528 (37%) |species == chimp; score == 191; expect == 7.1e-49; MEOW:sp|Q9MXI8|Q9MXI8 (37%) |species == chimp; score == 191; expect == 4.2e-49; MEOW:sp|Q9MXL0|Q9MXL0 (37%) |species == chimp; score == 191; expect == 4.2e-49; MEOW:sp|Q9MXM5|Q9MXM5 (38%) |species == chimp; score == 190; expect == 9.3e-49; MEOW:sp|AAF72782|AAF72782 (38%) |species == chimp; score == 190; expect == 9.3e-49; MEOW:sp|BAC78189|BAC78189 (38%) |species == chimp; score == 190; expect == 9.3e-49; MEOW:sp|P13749|1A04_PANTR (38%) |species == chimp; score == 190; expect == 9.1e-49; MEOW:sp|Q30993|Q30993 (38%) |species == chimp; score == 190; expect == 9.3e-49; MEOW:sp|Q8MHG4|Q8MHG4 (38%) |species == chimp; score == 190; expect == 1.2e-48; MEOW:sp|Q9MXG6|Q9MXG6 (37%) |species == chimp; score == 190; expect == 9.2e-49; MEOW:sp|Q9MXI7|Q9MXI7 (37%) |species == chimp; score == 190; expect == 1.2e-48; MEOW:sp|Q9MXJ1|Q9MXJ1 (38%) |species == chimp; score == 190; expect == 9.1e-49; MEOW:sp|Q9MXL2|Q9MXL2 (38%) |species == chimp; score == 189; expect == 2.1e-48; MEOW:sp|Q9MXJ2|Q9MXJ2 (38%) |species == chimp; score == 189; expect == 1.6e-48; MEOW:sp|Q9MXM6|Q9MXM6 (38%) |species == chimp; score == 188; expect == 4.6e-48; MEOW:sp|O46684|O46684 (37%) |species == chimp; score == 188; expect == 3.4e-48; MEOW:sp|Q30992|Q30992 (38%) |species == chimp; score == 188; expect == 3.5e-48; MEOW:sp|Q8MHG5|Q8MHG5 (38%) |species == chimp; score == 188; expect == 4.6e-48; MEOW:sp|Q9MXD2|Q9MXD2 (37%) |species == chimp; score == 188; expect == 6.0e-48; MEOW:sp|Q9MXG4|Q9MXG4 (37%) |species == chimp; score == 188; expect == 3.5e-48; MEOW:sp|Q9MXI4|Q9MXI4 (38%) |species == chimp; score == 188; expect == 3.4e-48; MEOW:sp|Q9MXL1|Q9MXL1 (38%) |species == chimp; score == 188; expect == 3.5e-48; MEOW:sp|Q9MXM1|Q9MXM1 (37%) |species == chimp; score == 187; expect == 1.0e-47; MEOW:sp|BAC78163|BAC78163 (37%) |species == chimp; score == 187; expect == 1.0e-47; MEOW:sp|P13750|1B01_PANTR (37%) |species == chimp; score == 187; expect == 1.0e-47; MEOW:sp|Q9MXJ9|Q9MXJ9 (37%) |species == chimp; score == 187; expect == 7.8e-48; MEOW:sp|Q9MXK3|Q9MXK3 (38%) |species == chimp; score == 187; expect == 9.9e-48; MEOW:sp|Q9TQE5|Q9TQE5 (37%) |species == chimp; score == 186; expect == 2.2e-47; MEOW:sp|Q30919|Q30919 (37%) |species == chimp; score == 186; expect == 1.3e-47; MEOW:sp|Q9MXG2|Q9MXG2 (37%) |species == chimp; score == 186; expect == 1.7e-47; MEOW:sp|Q9MXH6|Q9MXH6 (37%) |species == chimp; score == 186; expect == 1.3e-47; MEOW:sp|Q9MXH7|Q9MXH7 (36%) |species == chimp; score == 186; expect == 2.3e-47; MEOW:sp|Q9TPL3|Q9TPL3 (37%) |species == chimp; score == 185; expect == 3.9e-47; MEOW:sp|Q9MXG1|Q9MXG1 (37%) |species == Human; gene == HLA-C; score == 184; expect == 5.0e-47; MEOW:HUgn0003107 (37%) |species == Human; gene == HLA-F; score == 184; expect == 6.6e-47; MEOW:HUgn0003134 (36%) |species == Human; gene == HLA-G; score == 184; expect == 3.9e-47; MEOW:HUgn0003135 (36%) |species == chimp; score == 184; expect == 6.1e-47; MEOW:sp|Q9BCU3|Q9BCU3 (36%) |species == chimp; score == 184; expect == 6.6e-47; MEOW:sp|Q9MXG9|Q9MXG9 (36%) |species == chimp; score == 184; expect == 6.6e-47; MEOW:sp|Q9MXH2|Q9MXH2 (37%) |species == chimp; score == 184; expect == 8.6e-47; MEOW:sp|Q9MXH8|Q9MXH8 (36%) |species == chimp; score == 184; expect == 8.6e-47; MEOW:sp|Q9MXH9|Q9MXH9 (36%) |species == chimp; score == 184; expect == 6.6e-47; MEOW:sp|Q9MXI5|Q9MXI5 (37%) |species == chimp; score == 184; expect == 5.0e-47; MEOW:sp|Q9MXJ3|Q9MXJ3 (36%) |species == chimp; score == 184; expect == 6.0e-47; MEOW:sp|Q9MXL5|Q9MXL5 (36%) |species == chimp; score == 184; expect == 5.0e-47; MEOW:sp|Q9MXM4|Q9MXM4 (37%) |species == chimp; score == 184; expect == 6.6e-47; MEOW:sp|Q9MXM7|Q9MXM7 (37%) |species == chimp; score == 183; expect == 1.9e-46; MEOW:sp|Q9MXD0|Q9MXD0 (37%) |species == chimp; score == 183; expect == 1.1e-46; MEOW:sp|Q9MXG3|Q9MXG3 (36%) |species == Human; gene == MR1; score == 182; expect == 3.0e-46; MEOW:HUgn0003140 (36%) |species == chimp; score == 182; expect == 2.3e-46; MEOW:sp|Q9BCU4|Q9BCU4 (36%) |species == chimp; score == 181; expect == 3.4e-46; MEOW:sp|O19357|O19357 (37%) |species == chimp; score == 181; expect == 5.7e-46; MEOW:sp|Q85ZX4|Q85ZX4 (36%) |species == chimp; score == 181; expect == 4.3e-46; MEOW:sp|Q95H88|Q95H88 (35%) |species == chimp; score == 181; expect == 7.4e-46; MEOW:sp|Q95H90|Q95H90 (35%) |species == chimp; score == 179; expect == 1.9e-45; MEOW:sp|BAC78190|BAC78190 (35%) |species == chimp; score == 179; expect == 2.8e-45; MEOW:sp|P30686|1C01_PANTR (35%) |species == chimp; score == 179; expect == 1.7e-45; MEOW:sp|Q30991|Q30991 (38%) |species == chimp; score == 179; expect == 2.1e-45; MEOW:sp|Q95H89|Q95H89 (35%) |species == chimp; score == 179; expect == 1.9e-45; MEOW:sp|Q95IT1|Q95IT1 (35%) |species == chimp; score == 179; expect == 2.1e-45; MEOW:sp|Q9MXG7|Q9MXG7 (36%) |species == chimp; score == 179; expect == 2.1e-45; MEOW:sp|Q9MXG8|Q9MXG8 (36%) |species == chimp; score == 179; expect == 2.1e-45; MEOW:sp|Q9MXL7|Q9MXL7 (36%) |species == chimp; score == 178; expect == 4.8e-45; MEOW:sp|Q9MXC6|Q9MXC6 (36%) |species == Human; gene == HLA-E; score == 175; expect == 3.1e-44; MEOW:HUgn0003133 (34%) |species == chimp; score == 175; expect == 2.9e-44; MEOW:sp|BAC78182|BAC78182 (34%) |species == chimp; score == 175; expect == 2.9e-44; MEOW:sp|Q95IT3|Q95IT3 (34%) |species == chimp; score == 173; expect == 1.4e-43; MEOW:sp|AAN09793|AAN09793 (36%) |species == chimp; score == 173; expect == 1.2e-43; MEOW:sp|Q9BEB7|Q9BEB7 (37%) |species == chimp; score == 172; expect == 2.6e-43; MEOW:sp|BAC78191|BAC78191 (35%) |species == chimp; score == 172; expect == 2.4e-43; MEOW:sp|Q95IT2|Q95IT2 (35%) |species == chimp; score == 172; expect == 2.0e-43; MEOW:sp|Q9MXG5|Q9MXG5 (36%) |species == chimp; score == 171; expect == 7.6e-43; MEOW:sp|Q9MXL6|Q9MXL6 (36%) |species == chimp; score == 170; expect == 1.2e-42; MEOW:sp|P16215|1C28_PANTR (34%) |species == chimp; score == 170; expect == 1.3e-42; MEOW:sp|Q9MXC9|Q9MXC9 (36%) |species == chimp; score == 168; expect == 4.9e-42; MEOW:sp|Q9MXC7|Q9MXC7 (35%) |species == chimp; score == 167; expect == 1.1e-41; MEOW:sp|Q9TPL4|Q9TPL4 (35%) |species == chimp; score == 164; expect == 4.6e-41; MEOW:sp|Q9MXJ4|Q9MXJ4 (36%) |species == Zfish; gene == mhc1uba; score == 126; expect == 6.7e-31; MEOW:ZFgn0000487 (28%) } # EOR GENR { RETE|ID 1 HUgn0000564 DID 1 LocusLink:564 NAM 1 alpha-2-glycoprotein 1, zinc pseudogene 1 ORG 1 Homo sapiens SYM 1 AZGP1P1 ID|HUgn0000564 DID|LocusLink:564 CLA|Pseudogene ORG|Homo sapiens SYM|AZGP1P1 NAM|alpha-2-glycoprotein 1, zinc pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:138289 } # EOR GENR { RETE|ID 1 HUgn0000565 DID 1 LocusLink:565 NAM 1 alpha-2-glycoprotein 1, zinc pseudogene 2 ORG 1 Homo sapiens SYM 1 AZGP1P2 ID|HUgn0000565 DID|LocusLink:565 CLA|Pseudogene ORG|Homo sapiens SYM|AZGP1P2 NAM|alpha-2-glycoprotein 1, zinc pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:270687 } # EOR GENR { RETE|ID 1 HUgn0000566 CHR 1 19 DID 1 LocusLink:566 MAP 1 19p13.3 NAM 1 azurocidin 1 (cationic antimicrobial protein 37) ORG 1 Homo sapiens SYM 1 AZU1 ID|HUgn0000566 DID|LocusLink:566 ORG|Homo sapiens RSQ|REFSEQ:NM_001700 RPA|REFPROT:NP_001691 DBA|XM:NM_001700 |NA:AC004799 |NA:M96326 |NA:X58794 |NA:none PAC|XP:NP_001691 SYM|AZU1 NAM|azurocidin 1 (cationic antimicrobial protein 37) SYN|AZU |HBP |NAZC |AZAMP |CAP37 |HUMAZUR FNC|azurocidin 1 preproprotein |phagocytosis ; GO:0006909 |xenobiotic metabolism ; GO:0006805 |chemotaxis ; GO:0006935 |proteolysis and peptidolysis ; GO:0006508 |protein kinase C activation ; GO:0007205 |glia cell migration ; GO:0008347 |cell-cell adhesion ; GO:0016337 |neutrophil chemotaxis ; GO:0030593 |neutrophil activation ; GO:0042119 |cytokine biosynthesis ; GO:0042089 |cellular extravasation ; GO:0045123 |microglial cell activation ; GO:0001774 |monocyte activation ; GO:0042117 |macrophage chemotaxis ; GO:0048246 REAB|Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 |proteins implicated in the killing of microorganisms. The protein encoded by this |gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial |activity. It is also an important multifunctional inflammatory mediator. This encoded |protein is a member of the serine protease gene family but it is not a serine proteinase, |because the active site serine and histidine residues are replaced. The genes encoding |this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at |chromosome 19pter. All 3 genes are expressed coordinately and their protein products |are packaged together into azurophil granules during neutrophil differentiation. CHR|19 PRD|neutrophil azurocidin |heparin-binding protein |cationic antimicrobial protein 37 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72885 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135033 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001700 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001700 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25206 DBL|UNIGENE:Hs.72885 |OMIM:162815 |SNP:566 MAP|19p13.3 ENZ|trypsin activity ; GO:0004295 |cytoskeletal regulator activity ; GO:0008580 |heparin binding ; GO:0008201 |antibacterial peptide activity ; GO:0003797 |antigen binding ; GO:0003823 |protein binding ; GO:0005515 |lipopolysaccharide binding ; GO:0001530 |chymotrypsin activity ; GO:0004263 CEL|extracellular ; GO:0005576 |azurophil granule ; GO:0042582 HG|species == Mouse; gene == Prtn3; score == 198; expect == 2.7e-51; MEOW:MGgn0009466 (47%) |species == rat; score == 195; expect == 2.3e-50; MEOW:ref|XP_234882.2| (44%) |species == Human; gene == ELA2; score == 189; expect == 1.3e-48; MEOW:HUgn0001991 (45%) |species == Human; gene == PRTN3; score == 186; expect == 1.4e-47; MEOW:HUgn0005657 (44%) |species == rat; score == 185; expect == 2.5e-47; MEOW:ref|XP_234883.1| (44%) } # EOR GENR { RETE|ID 1 HUgn0000567 CHR 1 15 DID 1 LocusLink:567 MAP 1 15q21-q22.2 NAM 1 beta-2-microglobulin ORG 1 Homo sapiens SYM 1 B2M ID|HUgn0000567 DID|LocusLink:567 ORG|Homo sapiens RSQ|REFSEQ:NM_004048 RPA|REFPROT:NP_004039 DBA|XM:NM_004048 |NA:AF072097 |NA:M17987 |NA:AB021288 |NA:AI686916 |NA:AK026463 |NA:AY007153 |NA:BC032589 |NA:BU658737 |NA:D17039 |NA:S54761 |NA:S82297 |NA:S82300 |NA:V00567 |NA:X07621 |NA:none PAC|XP:NP_004039 SYM|B2M NAM|beta-2-microglobulin FNC|beta-2-microglobulin precursor CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=48516 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=567[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119028 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004048 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004048 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=48516 DBL|UNIGENE:Hs.48516 |OMIM:109700 |SNP:567 MAP|15q21-q22.2 PHP|Hemodialysis-related amyloidosis HG|species == chimp; score == 222; expect == 1.2e-60; MEOW:sp|P01884|B2MG_HUMAN (100%) |species == chimp; score == 189; expect == 1.5e-49; MEOW:sp|Q8HZE4|Q8HZE4 (96%) |species == rat; score == 169; expect == 2.7e-43; MEOW:ref|NP_036644.1| (69%) |species == Mouse; gene == B2m; score == 163; expect == 1.1e-41; MEOW:MGgn0000673 (68%) } # EOR GENR { RETE|ID 1 HUgn0000568 CHR 1 15 DID 1 LocusLink:568 MAP 1 15q13-q15 NAM 1 beta-2-microglobulin regulator ORG 1 Homo sapiens SYM 1 B2MR ID|HUgn0000568 DID|LocusLink:568 ORG|Homo sapiens SYM|B2MR NAM|beta-2-microglobulin regulator CHR|15 DBL|OMIM:109710 MAP|15q13-q15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119029 } # EOR GENR { RETE|ID 1 HUgn0000570 CHR 1 9 DID 1 LocusLink:570 MAP 1 9q22.3 NAM 1 bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) ORG 1 Homo sapiens SYM 1 BAAT ID|HUgn0000570 DID|LocusLink:570 ORG|Homo sapiens RSQ|REFSEQ:NM_001701 RPA|REFPROT:NP_001692 DBA|XM:NM_001701 |NA:BC009567 |NA:BC039200 |NA:L34081 PAC|XP:NP_001692 SYM|BAAT NAM|bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) SYN|BAT |BACAT FNC|bile acid Coenzyme A: amino acid N-acyltransferase |glycine metabolism ; GO:0006544 |bile acid metabolism ; GO:0008206 |digestion ; GO:0007586 REAB|Bile acid-CoA:amino acid N-acyltransferase (BAAT) is a liver enzyme that catalyzes |the transfer of the bile acid moiety from the acyl-CoA thioester to either glycine |or taurine, the second step in the formation of bile acid-amino acid conjugates |which serve as detergents in the gastrointestinal tract. BAAT is predicted to |be a protein of 418 amino acids with a molecular mass of 46,296 Da. CHR|9 PRD|glycine N-choloyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284712 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=570[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:377630 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001701 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001701 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=284712 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00430 DBL|UNIGENE:Hs.284712 |OMIM:602938 |SNP:570 ENZ|EC:2.3.1.65 |acyltransferase activity ; GO:0008415 |transferase activity ; GO:0016740 MAP|9q22.3 PHP|Hypercholanemia, familial CEL|cytosol ; GO:0005829 HG|species == rat; score == 550; expect == 7e-157; MEOW:ref|NP_058996.1| (69%) |species == Mouse; gene == Baat; score == 537; expect == 5e-153; MEOW:MGgn0000678 (67%) |species == Human; gene == LOC347275; score == 390; expect == 7e-109; MEOW:HUgn0347275 (55%) } # EOR GENR { RETE|ID 1 HUgn0000571 CHR 1 21 DID 1 LocusLink:571 MAP 1 21q22.11 NAM 1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 ORG 1 Homo sapiens SYM 1 BACH1 ID|HUgn0000571 DID|LocusLink:571 ORG|Homo sapiens RSQ|REFSEQ:NM_001186 RPA|REFPROT:NP_001177 DBA|XM:NM_001186 |NA:AB002803 |NA:AF026199 |NA:AF026200 |NA:AF317902 |NA:AF317903 |NA:none PAC|XP:NP_001177 SYM|BACH1 NAM|BTB and CNC homology 1, basic leucine zipper transcription factor 1 FNC|BTB and CNC homology 1, basic leucine zipper transcription factor 1 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|21 PRD|transcription regulator protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154276 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=473539 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=571[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836135 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001186 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001186 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25234 DBL|UNIGENE:Hs.154276 |UNIGENE:Hs.473539 |OMIM:602751 |SNP:571 MAP|21q22.11 ENZ|protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Bach1; score == 1116; expect == 0.0; MEOW:MGgn0000680 (79%) |species == rat; score == 1100; expect == 0.0; MEOW:ref|XP_221712.2| (78%) |species == Human; gene == BACH2; score == 339; expect == 3.8e-93; MEOW:HUgn0060468 (33%) } # EOR GENR { RETE|ID 1 HUgn0000572 CHR 1 11 DID 1 LocusLink:572 MAP 1 11q13.1 NAM 1 BCL2-antagonist of cell death ORG 1 Homo sapiens SYM 1 BAD ID|HUgn0000572 DID|LocusLink:572 ORG|Homo sapiens RSQ|REFSEQ:NM_004322 |REFSEQ:NM_032989 RPA|REFPROT:NP_004313 |REFPROT:NP_116784 DBA|XM:NM_004322 |XM:NM_032989 |NA:AF021792 |NA:AF031523 |NA:AK023420 |NA:BC001901 |NA:BE255791 |NA:BG748336 |NA:U66879 |NA:none PAC|XP:NP_004313 |XP:NP_116784 SYM|BAD NAM|BCL2-antagonist of cell death SYN|BBC2 |BCL2L8 FNC|BCL2-antagonist of cell death protein |apoptotic program ; GO:0008632 |induction of apoptosis ; GO:0006917 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members |are known to be regulators of programmed cell death. This protein positively regulates |cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their |death repressor activity. Proapoptotic activity of this protein is regulated through |its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase |calcineurin were found to be involved in the regulation of this protein. Alternative |splicing of this gene results in two transcript variants which encode the same isoform. CHR|11 PRD|BCL2-binding protein |BCL2-binding component 6 |BCL-X/BCL-2 binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76366 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=572[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9120563 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004322 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004322 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76366 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05030 DBL|UNIGENE:Hs.76366 |OMIM:603167 |SNP:572 MAP|11q13.1 ENZ|protein binding ; GO:0005515 |DNA binding ; GO:0003677 CEL|mitochondrial outer membrane ; GO:0005741 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Bad; score == 235; expect == 5.0e-63; MEOW:MGgn0000682 (75%) |species == rat; score == 230; expect == 3.1e-61; MEOW:ref|NP_073189.1| (74%) } # EOR GENR { RETE|ID 1 HUgn0000573 CHR 1 9 DID 1 LocusLink:573 MAP 1 9p12 NAM 1 BCL2-associated athanogene ORG 1 Homo sapiens SYM 1 BAG1 ID|HUgn0000573 DID|LocusLink:573 ORG|Homo sapiens RSQ|REFSEQ:NM_004323 RPA|REFPROT:NP_004314 DBA|XM:NM_004323 |NA:AF022224 |NA:AF116273 |NA:AK096038 |NA:BC001936 |NA:BC014774 |NA:U46917 |NA:Z35491 |NA:none PAC|XP:NP_004314 SYM|BAG1 NAM|BCL2-associated athanogene FNC|BCL2-associated athanogene isoform 1L |anti-apoptosis ; GO:0006916 |cell surface receptor linked signal transduction ; GO:0007166 |apoptosis ; GO:0006915 REAB|The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to |apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 |and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic |effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic |mechanisms. At least three protein isoforms are encoded by this mRNA through the |use of alternative translation initiation sites, including a non-AUG site. CHR|9 PRD|BCL2-associated athanogene 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=377484 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=573[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1320256 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004323 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004323 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=377484 DBL|UNIGENE:Hs.377484 |OMIM:601497 |SNP:573 MAP|9p12 ENZ|apoptosis inhibitor activity ; GO:0008189 |protein binding ; GO:0005515 |chaperone activity ; GO:0003754 |receptor signaling protein activity ; GO:0005057 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Bag1; score == 359; expect == 1.1e-99; MEOW:MGgn0000684 (69%) |species == rat; score == 317; expect == 5.5e-87; MEOW:ref|XP_216377.2| (68%) } # EOR GENR { RETE|ID 1 HUgn0000574 CHR 1 13 DID 1 LocusLink:574 MAP 1 13 NAM 1 B melanoma antigen ORG 1 Homo sapiens SYM 1 BAGE ID|HUgn0000574 DID|LocusLink:574 ORG|Homo sapiens RSQ|REFSEQ:NM_001187 RPA|REFPROT:NP_001178 DBA|XM:NM_001187 |NA:AF499647 |NA:AF527550 |NA:AF527551 |NA:AF527552 |NA:AF527553 |NA:AF527554 |NA:BC017024 |NA:U19180 |NA:none PAC|XP:NP_001178 SYM|BAGE NAM|B melanoma antigen SYN|BAGE1 FNC|B melanoma antigen REAB|This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2355 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458261 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512660 |http://www.gdb.org/gdb-bin/genera/accno?GDB:512894 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001187 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001187 DBL|UNIGENE:Hs.2355 |UNIGENE:Hs.458261 |UNIGENE:Hs.512660 |OMIM:605167 |SNP:574 MAP|13 } # EOR GENR { RETE|ID 1 HUgn0000575 CHR 1 8 DID 1 LocusLink:575 MAP 1 8q24 NAM 1 brain-specific angiogenesis inhibitor 1 ORG 1 Homo sapiens SYM 1 BAI1 ID|HUgn0000575 DID|LocusLink:575 ORG|Homo sapiens RSQ|REFSEQ:NM_001702 RPA|REFPROT:NP_001693 DBA|XM:NM_001702 |NA:AB005297 |NA:none PAC|XP:NP_001693 SYM|BAI1 NAM|brain-specific angiogenesis inhibitor 1 FNC|brain-specific angiogenesis inhibitor 1 precursor |axonogenesis ; GO:0007409 |negative regulation of cell proliferation ; GO:0008285 |neuropeptide signaling pathway ; GO:0007218 |peripheral nervous system development ; GO:0007422 |cell adhesion ; GO:0007155 |signal transduction ; GO:0007165 REAB|Angiogenesis is controlled by a local balance between stimulators and inhibitors |of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis |has been shown to be essential for growth and metastasis of solid tumors. In order |to obtain blood supply for their growth, tumor cells are potently angiogenic and |attract new vessels as results of increased secretion of inducers and decreased |production of endogenous negative regulators. BAI1 contains at least one 'functional' |p53-binding site within an intron, and its expression has been shown to be induced |by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, |designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities |and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is |postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis |and a growth suppressor of glioblastomas CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194654 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=575[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838088 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001702 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001702 DBL|UNIGENE:Hs.194654 |OMIM:602682 |SNP:575 MAP|8q24 ENZ|G-protein coupled receptor activity ; GO:0004930 |protein binding ; GO:0005515 |cell adhesion molecule activity ; GO:0005194 |brain-specific angiogenesis inhibitor activity ; GO:0016527 CEL|intercellular junction ; GO:0005911 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Bai1; score == 2516; expect == 0.0; MEOW:MGgn0028913 (93%) |species == Human; gene == BAI3; score == 1324; expect == 0.0; MEOW:HUgn0000577 (47%) |species == rat; score == 1024; expect == 0.0; MEOW:ref|XP_232778.2| (45%) |species == rat; score == 1021; expect == 0.0; MEOW:ref|XP_343261.1| (67%) |species == Mosquito; gene == LOC21854; score == 180; expect == 9.2e-45; MEOW:AGgn0021854 (39%) |species == Worm; gene == T21B6.3; score == 176; expect == 6.3e-44; MEOW:CEgn0016526 (31%) |species == Worm; gene == C36B7.5a; score == 153; expect == 4.7e-37; MEOW:CEgn0027819 (29%) |species == Worm; gene == C36B7.5b; score == 153; expect == 4.8e-37; MEOW:CEgn0027820 (29%) } # EOR GENR { RETE|ID 1 HUgn0000576 CHR 1 1 DID 1 LocusLink:576 MAP 1 1p35 NAM 1 brain-specific angiogenesis inhibitor 2 ORG 1 Homo sapiens SYM 1 BAI2 ID|HUgn0000576 DID|LocusLink:576 ORG|Homo sapiens RSQ|REFSEQ:NM_001703 RPA|REFPROT:NP_001694 DBA|XM:NM_001703 |NA:AB005298 |NA:BC009035 |NA:none PAC|XP:NP_001694 SYM|BAI2 NAM|brain-specific angiogenesis inhibitor 2 FNC|brain-specific angiogenesis inhibitor 2 |neuropeptide signaling pathway ; GO:0007218 REAB|BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span |transmembrane protein and is thought to be a member of the secretin receptor family. |Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, |have similar tissue specificities and may also play a role in angiogenesis. CHR|1 PRD|Brain-specific angiongenesis inhibitor-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=200586 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=576[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838089 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001703 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001703 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=200586 DBL|UNIGENE:Hs.200586 |OMIM:602683 |SNP:576 MAP|1p35 ENZ|G-protein coupled receptor activity ; GO:0004930 |brain-specific angiogenesis inhibitor activity ; GO:0016527 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Bai2; score == 2737; expect == 0.0; MEOW:MGgn0042397 (94%) |species == rat; score == 2733; expect == 0.0; MEOW:ref|XP_232778.2| (94%) |species == Human; gene == BAI3; score == 1351; expect == 0.0; MEOW:HUgn0000577 (47%) |species == Worm; gene == T21B6.3; score == 162; expect == 5.5e-40; MEOW:CEgn0016526 (38%) |species == Worm; gene == C36B7.5a; score == 145; expect == 1.7e-34; MEOW:CEgn0027819 (35%) |species == Worm; gene == C36B7.5b; score == 145; expect == 1.7e-34; MEOW:CEgn0027820 (35%) } # EOR GENR { RETE|ID 1 HUgn0000577 CHR 1 6 DID 1 LocusLink:577 MAP 1 6q12 NAM 1 brain-specific angiogenesis inhibitor 3 ORG 1 Homo sapiens SYM 1 BAI3 ID|HUgn0000577 DID|LocusLink:577 ORG|Homo sapiens RSQ|REFSEQ:NM_001704 RPA|REFPROT:NP_001695 DBA|XM:NM_001704 |NA:AB005299 |NA:AB011122 |NA:none PAC|XP:NP_001695 SYM|BAI3 NAM|brain-specific angiogenesis inhibitor 3 SYN|KIAA0550 FNC|brain-specific angiogenesis inhibitor 3 |neuropeptide signaling pathway ; GO:0007218 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span |transmembrane protein and is thought to be a member of the secretin receptor family. |Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, |have similar tissue specificities and may also play a role in angiogenesis. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334087 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=577[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838090 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001704 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001704 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0550 DBL|UNIGENE:Hs.334087 |OMIM:602684 |SNP:577 MAP|6q12 ENZ|G-protein coupled receptor activity ; GO:0004930 |DNA binding ; GO:0003677 |brain-specific angiogenesis inhibitor activity ; GO:0016527 CEL|integral to membrane ; GO:0016021 |nucleus ; GO:0005634 HG|species == Mouse; gene == Bai3; score == 2977; expect == 0.0; MEOW:MGgn0042398 (98%) |species == Human; gene == BAI2; score == 1351; expect == 0.0; MEOW:HUgn0000576 (47%) |species == rat; score == 1350; expect == 0.0; MEOW:ref|XP_232778.2| (47%) |species == Human; gene == BAI1; score == 1324; expect == 0.0; MEOW:HUgn0000575 (47%) |species == rat; score == 1116; expect == 0.0; MEOW:ref|XP_217367.2| (98%) |species == Mosquito; gene == LOC21854; score == 176; expect == 1.7e-43; MEOW:AGgn0021854 (37%) |species == Worm; gene == T21B6.3; score == 172; expect == 6.9e-43; MEOW:CEgn0016526 (40%) |species == Worm; gene == C36B7.5a; score == 152; expect == 1.4e-36; MEOW:CEgn0027819 (39%) |species == Worm; gene == C36B7.5b; score == 152; expect == 1.4e-36; MEOW:CEgn0027820 (39%) } # EOR GENR { RETE|ID 1 HUgn0000578 CHR 1 6 DID 1 LocusLink:578 MAP 1 6p21.3 NAM 1 BCL2-antagonist/killer 1 ORG 1 Homo sapiens SYM 1 BAK1 ID|HUgn0000578 DID|LocusLink:578 ORG|Homo sapiens RSQ|REFSEQ:NM_001188 RPA|REFPROT:NP_001179 DBA|XM:NM_001188 |NA:D88397 |NA:AK091807 |NA:BC004431 |NA:BC032789 |NA:U16811 |NA:U23765 |NA:X84213 |NA:none PAC|XP:NP_001179 SYM|BAK1 NAM|BCL2-antagonist/killer 1 SYN|BAK |CDN1 |BCL2L7 FNC|BCL2-antagonist/killer 1 |apoptotic mitochondrial changes ; GO:0008637 |induction of apoptosis ; GO:0006917 |apoptosis ; GO:0006915 CHR|6 PRD|BCL2-like 7 protein |cell death inhibitor 1 |apoptosis regulator BAK |Bcl-2 homologous antagonist/killer URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93213 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=578[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:635887 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001188 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001188 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=93213 DBL|UNIGENE:Hs.93213 |OMIM:600516 |SNP:578 MAP|6p21.3 CEL|integral to membrane ; GO:0016021 ENZ|apoptosis regulator activity ; GO:0016329 HG|species == rat; score == 327; expect == 3.6e-90; MEOW:ref|NP_446264.1| (76%) |species == Mouse; gene == Bak1; score == 322; expect == 6.8e-89; MEOW:MGgn0000685 (76%) |species == Human; gene == LOC376079; score == 266; expect == 4.5e-72; MEOW:HUgn0376079 (80%) } # EOR GENR { RETE|ID 1 HUgn0000579 CHR 1 4 DID 1 LocusLink:579 MAP 1 4p16.1 NAM 1 bagpipe homeobox homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 BAPX1 ID|HUgn0000579 DID|LocusLink:579 ORG|Homo sapiens RSQ|REFSEQ:NM_001189 RPA|REFPROT:NP_001180 DBA|XM:NM_001189 |NA:AF005260 |NA:AF009802 |NA:U89845 |NA:AF009801 |NA:none PAC|XP:NP_001180 SYM|BAPX1 NAM|bagpipe homeobox homolog 1 (Drosophila) SYN|NKX3B |NKX3-2 |NKX3.2 FNC|bagpipe homeobox 1 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |transcription from Pol II promoter ; GO:0006366 REAB|This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=105941 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=579[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9786298 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001189 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001189 DBL|UNIGENE:Hs.105941 |OMIM:602183 |SNP:579 MAP|4p16.1 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Bapx1; score == 375; expect == 2e-104; MEOW:MGgn0000687 (84%) } # EOR GENR { RETE|ID 1 HUgn0000580 CHR 1 2 DID 1 LocusLink:580 MAP 1 2q34-q35 NAM 1 BRCA1 associated RING domain 1 ORG 1 Homo sapiens SYM 1 BARD1 ID|HUgn0000580 DID|LocusLink:580 ORG|Homo sapiens RSQ|REFSEQ:NM_000465 RPA|REFPROT:NP_000456 DBA|XM:NM_000465 |NA:AF038034 |NA:AF038035 |NA:AF038036 |NA:AF038037 |NA:AF038038 |NA:AF038039 |NA:AF038040 |NA:AF038041 |NA:AF038042 |NA:U76638 |NA:none PAC|XP:NP_000456 SYM|BARD1 NAM|BRCA1 associated RING domain 1 FNC|BRCA1 associated RING domain 1 REAB|BARD1 interacts with the N-terminal region of BRCA1. In addition to its ability to |bind BRCA1 in vivo and in vitro, BARD1 shares homology with the 2 most conserved |regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The |RING motif is a cysteine-rich sequence found in a variety of proteins that regulate |cell growth, including the products of tumor suppressor genes and dominant protooncogenes. |The BARD1 protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction |is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the |formation of a stable complex between these proteins may be an essential aspect |of BRCA1 tumor suppression. BARD1 may be the target of oncogenic mutations in breast |or ovarian cancer. CHR|2 PRD|BRCA1-associated RING domain 1 |BRCA1-associated RING domain gene 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54089 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=580[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835932 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000465 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000465 DBL|UNIGENE:Hs.54089 |OMIM:601593 |SNP:580 MAP|2q34-q35 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Bard1; score == 1030; expect == 0.0; MEOW:MGgn0000688 (70%) |species == rat; score == 1001; expect == 0.0; MEOW:ref|NP_072144.1| (68%) |species == Human; gene == KIAA0874; score == 132; expect == 9.8e-31; MEOW:HUgn0023253 (49%) } # EOR GENR { RETE|ID 1 HUgn0000581 CHR 1 19 DID 1 LocusLink:581 MAP 1 19q13.3-q13.4 NAM 1 BCL2-associated X protein ORG 1 Homo sapiens SYM 1 BAX ID|HUgn0000581 DID|LocusLink:581 ORG|Homo sapiens RSQ|REFSEQ:NM_004324 |REFSEQ:NM_138761 |REFSEQ:NM_138762 |REFSEQ:NM_138763 |REFSEQ:NM_138764 |REFSEQ:NM_138765 RPA|REFPROT:NP_004315 |REFPROT:NP_620116 |REFPROT:NP_620117 |REFPROT:NP_620118 |REFPROT:NP_620119 |REFPROT:NP_620120 DBA|XM:NM_004324 |XM:NM_138761 |XM:NM_138762 |XM:NM_138763 |XM:NM_138764 |XM:NM_138765 |NA:AF008195 |NA:AF008196 |NA:AF020360 |NA:AF339054 |NA:AF007826 |NA:AF247393 |NA:AJ417988 |NA:BC014175 |NA:BE396495 |NA:BM706954 |NA:L22473 |NA:L22474 |NA:L22475 |NA:U19599 |NA:none PAC|XP:NP_004315 |XP:NP_620116 |XP:NP_620117 |XP:NP_620118 |XP:NP_620119 |XP:NP_620120 SYM|BAX NAM|BCL2-associated X protein FNC|BCL2-associated X protein isoform alpha |BCL2-associated X protein isoform beta |BCL2-associated X protein isoform delta |BCL2-associated X protein isoform epsilon |BCL2-associated X protein isoform gamma |BCL2-associated X protein isoform sigma |apoptotic mitochondrial changes ; GO:0008637 |negative regulation of survival gene products ; GO:0008634 |germ-cell development ; GO:0007281 |induction of apoptosis by extracellular signals ; GO:0008624 |induction of apoptosis ; GO:0006917 |oncogenesis ; GO:0007048 REAB|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family |members form hetero- or homodimers and act as anti- or pro-apoptotic regulators |that are involved in a wide variety of cellular activities. This protein forms a |heterodimer with BCL2, and functions as an apoptotic activator. This protein is |reported to interact with, and increase the opening of, the mitochondrial voltage-dependent |anion channel (VDAC), which leads to the loss in membrane potential and the release |of cytochrome c. The expression of this gene is regulated by the tumor suppressor |P53 and has been shown to be involved in P53-mediated apoptosis. Six alternatively |spliced transcript variants, which encode different isoforms, have been reported |for this gene. CHR|19 PRD|apoptosis regulator BAX URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159428 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=581[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228082 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138764 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138764 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159428 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05030 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25269 DBL|UNIGENE:Hs.159428 |OMIM:600040 |SNP:581 MAP|19q13.3-q13.4 PHP|Colorectal cancer |T-cell acute lymphoblastic leukemia HG|species == Mouse; gene == Bax; score == 292; expect == 5.5e-80; MEOW:MGgn0000698 (90%) |species == rat; score == 289; expect == 7.2e-79; MEOW:ref|NP_058755.1| (88%) |species == rat; score == 274; expect == 2.3e-74; MEOW:ref|XP_212676.1| (84%) |species == Zfish; gene == bax; score == 156; expect == 5.2e-40; MEOW:ZFgn0000852 (47%) } # EOR GENR { RETE|ID 1 HUgn0000582 CHR 1 11 DID 1 LocusLink:582 MAP 1 11q13.1 NAM 1 Bardet-Biedl syndrome 1 ORG 1 Homo sapiens SYM 1 BBS1 ID|HUgn0000582 DID|LocusLink:582 ORG|Homo sapiens RSQ|REFSEQ:NM_024649 RPA|REFPROT:NP_078925 DBA|XM:NM_024649 |NA:AF503941 |NA:AK027243 |NA:AK027645 |NA:AK095638 |NA:BX647612 PAC|XP:NP_078925 SYM|BBS1 NAM|Bardet-Biedl syndrome 1 SYN|BBS2L2 |FLJ23590 FNC|Bardet-Biedl syndrome 1 REAB|Mutations in this gene have been observed in patients with the major form (type 1) |of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac |and reproductive system development. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129213 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=582[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270663 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_024649 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_024649 |http://www.geneclinics.org/query?mim=209901 DBL|UNIGENE:Hs.129213 |OMIM:209901 |SNP:582 MAP|11q13.1 PHP|Bardet-Biedl syndrome 1 HG|species == rat; score == 901; expect == 0.0; MEOW:ref|XP_219691.2| (76%) |species == Mosquito; score == 342; expect == 3.4e-94; MEOW:AGgn0009454 (35%) |species == Fruitfly; gene == CG14825; score == 263; expect == 2.8e-70; MEOW:FBgn0035741 (29%) |species == Worm; gene == Y105E8A.5; score == 254; expect == 9.2e-68; MEOW:CEgn0029912 (28%) } # EOR GENR { RETE|ID 1 HUgn0000583 CHR 1 16 DID 1 LocusLink:583 MAP 1 16q21 NAM 1 Bardet-Biedl syndrome 2 ORG 1 Homo sapiens SYM 1 BBS2 ID|HUgn0000583 DID|LocusLink:583 ORG|Homo sapiens RSQ|REFSEQ:NM_031885 RPA|REFPROT:NP_114091 DBA|XM:NM_031885 |NA:AF342736 |NA:AK027635 |NA:AL834176 |NA:BC014140 |NA:BM982214 |NA:none PAC|XP:NP_114091 SYM|BBS2 NAM|Bardet-Biedl syndrome 2 SYN|BBS |MGC20703 FNC|Bardet-Biedl syndrome 2 protein |vision ; GO:0007601 |cell-matrix adhesion ; GO:0007160 |biological_process unknown ; GO:0000004 REAB|This gene encodes a protein of unknown function. Mutations in this gene have been |observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is |an autosomal recessive disorder characterized by severe pigmentary retinopathy, |obesity, polydactyly, renal malformation and mental retardation. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333738 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=583[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:229992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031885 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031885 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=333738 |http://www.geneclinics.org/query?mim=606151 DBL|UNIGENE:Hs.333738 |OMIM:606151 |SNP:583 MAP|16q21 PHP|Bardet-Biedl syndrome 2 ENZ|cell adhesion receptor activity ; GO:0004895 |molecular_function unknown ; GO:0005554 CEL|integrin complex ; GO:0008305 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Bbs2; score == 1315; expect == 0.0; MEOW:MGgn0028404 (90%) |species == rat; score == 1279; expect == 0.0; MEOW:ref|NP_446070.1| (89%) |species == Zfish; gene == bbs2; score == 1035; expect == 0.0; MEOW:ZFgn0002610 (73%) |species == Mosquito; gene == LOC10266; score == 456; expect == 2e-128; MEOW:AGgn0010266 (35%) |species == Worm; gene == F20D12.3; score == 329; expect == 2.8e-90; MEOW:CEgn0008901 (32%) } # EOR GENR { RETE|ID 1 HUgn0000584 CHR 1 3 DID 1 LocusLink:584 MAP 1 3p13-p12 NAM 1 Bardet-Biedl syndrome 3 ORG 1 Homo sapiens SYM 1 BBS3 ID|HUgn0000584 DID|LocusLink:584 ORG|Homo sapiens SYM|BBS3 NAM|Bardet-Biedl syndrome 3 CHR|3 DBL|OMIM:600151 MAP|3p13-p12 PHP|Bardet-Biedl syndrome 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:376501 |http://www.geneclinics.org/query?mim=600151 } # EOR GENR { RETE|ID 1 HUgn0000585 CHR 1 15 DID 1 LocusLink:585 MAP 1 15q22.3-q23 NAM 1 Bardet-Biedl syndrome 4 ORG 1 Homo sapiens SYM 1 BBS4 ID|HUgn0000585 DID|LocusLink:585 ORG|Homo sapiens RSQ|REFSEQ:NM_033028 RPA|REFPROT:NP_149017 DBA|XM:NM_033028 |NA:AF359281 |NA:AK075321 |NA:BC008923 |NA:BC027624 |NA:BI562463 |NA:BX647855 |NA:none PAC|XP:NP_149017 SYM|BBS4 NAM|Bardet-Biedl syndrome 4 FNC|Bardet-Biedl syndrome 4 |vision ; GO:0007601 REAB|This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar |to O-linked N-acetyglucosamine transferase. Mutations in this gene have been observed |in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role |in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26471 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=585[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:511199 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033028 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26471 |http://www.geneclinics.org/query?mim=600374 DBL|UNIGENE:Hs.26471 |OMIM:600374 |SNP:585 |UWCM:511199.html MAP|15q22.3-q23 PHP|Bardet-Biedl syndrome 4 HG|species == Mouse; gene == Bbs4; score == 864; expect == 0.0; MEOW:MGgn0036684 (89%) |species == rat; score == 789; expect == 0.0; MEOW:ref|XP_217154.2| (88%) |species == Mosquito; gene == LOC13064; score == 261; expect == 6.1e-70; MEOW:AGgn0013064 (37%) |species == Fruitfly; gene == CG13232; score == 238; expect == 4.3e-63; MEOW:FBgn0033578 (33%) } # EOR GENR { RETE|ID 1 HUgn0000586 CHR 1 12 DID 1 LocusLink:586 MAP 1 12pter-q12 NAM 1 branched chain aminotransferase 1, cytosolic ORG 1 Homo sapiens SYM 1 BCAT1 ID|HUgn0000586 DID|LocusLink:586 ORG|Homo sapiens RSQ|REFSEQ:NM_005504 RPA|REFPROT:NP_005495 DBA|XM:NM_005504 |NA:AA376058 |NA:AK024923 |NA:AK025615 |NA:AK056255 |NA:AK128527 |NA:AL390172 |NA:BC026006 |NA:BC033864 |NA:BM458559 |NA:BX647122 |NA:U21551 |NA:none PAC|XP:NP_005495 SYM|BCAT1 NAM|branched chain aminotransferase 1, cytosolic SYN|BCT1 |ECA39 |MECA39 FNC|branched chain aminotransferase 1, cytosolic REAB|This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. |This enzyme catalyzes the reversible transamination of branched-chain alpha-keto |acids to branched-chain L-amino acids essential for cell growth. Two different clinical |disorders have been attributed to a defect of branched-chain amino acid transamination: |hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding |a mitochondrial form of this enzyme, mutations in either gene may contribute to |these disorders. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438993 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=586[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119033 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005504 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005504 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438993 |http://www.geneclinics.org/query?mim=113520 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00770 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00290 DBL|UNIGENE:Hs.438993 |OMIM:113520 |SNP:586 ENZ|EC:2.6.1.42 MAP|12pter-q12 HG|species == Mouse; gene == Bcat1; score == 674; expect == 0.0; MEOW:MGgn0000707 (84%) |species == rat; score == 611; expect == 2e-175; MEOW:ref|NP_058949.1| (72%) |species == Human; gene == BCAT2; score == 445; expect == 2e-125; MEOW:HUgn0000587 (57%) |species == Fruitfly; gene == CG1673; score == 391; expect == 2e-109; MEOW:FBgn0030482 (51%) |species == Mosquito; score == 390; expect == 1e-108; MEOW:AGgn0020447 (51%) |species == Worm; gene == eca-39; score == 377; expect == 3e-105; MEOW:CEgn0012975 (51%) |species == Yeast; gene == BAT2; score == 317; expect == 1.5e-87; MEOW:SGgn0003909 (48%) |species == Yeast; gene == BAT1; score == 308; expect == 2.6e-84; MEOW:SGgn0001251 (47%) |species == Worm; gene == Y44A6D.5; score == 307; expect == 5.0e-84; MEOW:CEgn0018702 (44%) |species == rice; score == 189; expect == 1.9e-48; MEOW:gnl|TIGR|8353.m04292 (34%) |species == rice; score == 182; expect == 3.8e-46; MEOW:gnl|TIGR|8360.m00058 (34%) |species == Weed; gene == At5g65780; score == 178; expect == 3.9e-45; MEOW:ATgn0024911 (33%) |species == Weed; gene == At3g49680; score == 176; expect == 1.5e-44; MEOW:ATgn0015751 (34%) |species == rice; score == 174; expect == 1.2e-43; MEOW:gnl|TIGR|8360.m01129 (34%) |species == Weed; gene == At1g50110; score == 158; expect == 4.2e-39; MEOW:ATgn0001739 (33%) |species == Weed; gene == At1g50090; score == 155; expect == 4.4e-38; MEOW:ATgn0001737 (33%) |species == Weed; gene == At1g10070; score == 153; expect == 1.4e-37; MEOW:ATgn0004050 (30%) |species == Weed; gene == At3g19710; score == 146; expect == 1.7e-35; MEOW:ATgn0012300 (30%) } # EOR GENR { RETE|ID 1 HUgn0000587 CHR 1 19 DID 1 LocusLink:587 MAP 1 19q13 NAM 1 branched chain aminotransferase 2, mitochondrial ORG 1 Homo sapiens SYM 1 BCAT2 ID|HUgn0000587 DID|LocusLink:587 ORG|Homo sapiens RSQ|REFSEQ:NM_001190 RPA|REFPROT:NP_001181 DBA|XM:NM_001190 |NA:AF268047 |NA:AF268048 |NA:AK023909 |NA:AK093627 |NA:BC001900 |NA:BC004243 |NA:U62739 |NA:U68418 |NA:none PAC|XP:NP_001181 SYM|BCAT2 NAM|branched chain aminotransferase 2, mitochondrial SYN|BCT2 FNC|branched chain aminotransferase 2, mitochondrial |branched chain family amino acid biosynthesis ; GO:0009082 |metabolism ; GO:0008152 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512670 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=587[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119034 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001190 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001190 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=512670 |http://www.geneclinics.org/query?mim=113530 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00770 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00290 DBL|UNIGENE:Hs.512670 |OMIM:113530 |SNP:587 MAP|19q13 ENZ|branched-chain-amino-acid transaminase activity ; GO:0004084 |transferase activity ; GO:0016740 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 674; expect == 0.0; MEOW:ref|NP_071795.1| (80%) |species == Mouse; gene == Bcat2; score == 625; expect == 1e-179; MEOW:MGgn0000708 (84%) |species == Human; gene == BCAT1; score == 445; expect == 2e-125; MEOW:HUgn0000586 (57%) |species == Fruitfly; gene == CG1673; score == 377; expect == 5e-105; MEOW:FBgn0030482 (50%) |species == Mosquito; score == 361; expect == 4e-100; MEOW:AGgn0020447 (48%) |species == Worm; gene == eca-39; score == 351; expect == 4.9e-97; MEOW:CEgn0012975 (50%) |species == Worm; gene == Y44A6D.5; score == 307; expect == 5.2e-84; MEOW:CEgn0018702 (44%) |species == Yeast; gene == BAT2; score == 306; expect == 1.6e-83; MEOW:SGgn0003909 (46%) |species == Yeast; gene == BAT1; score == 294; expect == 6.6e-80; MEOW:SGgn0001251 (45%) |species == Weed; gene == At5g65780; score == 174; expect == 1.0e-43; MEOW:ATgn0024911 (36%) |species == Weed; gene == At3g49680; score == 173; expect == 1.4e-43; MEOW:ATgn0015751 (36%) |species == rice; score == 170; expect == 1.2e-42; MEOW:gnl|TIGR|8353.m04292 (31%) |species == rice; score == 165; expect == 3.7e-41; MEOW:gnl|TIGR|8360.m00058 (35%) |species == rice; score == 156; expect == 3.6e-38; MEOW:gnl|TIGR|8360.m01129 (33%) |species == Weed; gene == At1g10070; score == 148; expect == 5.9e-36; MEOW:ATgn0004050 (29%) |species == Weed; gene == At1g50090; score == 146; expect == 1.5e-35; MEOW:ATgn0001737 (30%) |species == Weed; gene == At1g50110; score == 146; expect == 2.2e-35; MEOW:ATgn0001739 (32%) |species == rice; score == 137; expect == 1.3e-32; MEOW:gnl|TIGR|8362.m03257 (29%) } # EOR GENR { RETE|ID 1 HUgn0000588 CHR 1 16 DID 1 LocusLink:588 MAP 1 16 NAM 1 B-cell growth factor 1, 12kDa ORG 1 Homo sapiens SYM 1 BCGF1 ID|HUgn0000588 DID|LocusLink:588 ORG|Homo sapiens DBA|NA:none SYM|BCGF1 NAM|B-cell growth factor 1, 12kDa SYN|BCGF REAB|B-cell growth factor is released by T lymphocytes after either lectin or antigen stimulation. It supports the clonal proliferation of B lymphocytes. CHR|16 PRD|B-cell growth factor 1 (12kD) DBL|OMIM:109540 MAP|16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129037 ENZ|growth factor activity ; GO:0008083 FNC|positive regulation of cell proliferation ; GO:0008284 |humoral immune response ; GO:0006959 |signal transduction ; GO:0007165 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0000589 DID 1 LocusLink:589 NAM 1 bradykinin ORG 1 Homo sapiens SYM 1 BDK ID|HUgn0000589 DID|LocusLink:589 ORG|Homo sapiens SYM|BDK NAM|bradykinin URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135323 } # EOR GENR { RETE|ID 1 HUgn0000590 CHR 1 3 DID 1 LocusLink:590 MAP 1 3q26.1-q26.2 NAM 1 butyrylcholinesterase ORG 1 Homo sapiens SYM 1 BCHE ID|HUgn0000590 DID|LocusLink:590 ORG|Homo sapiens RSQ|REFSEQ:NM_000055 RPA|REFPROT:NP_000046 DBA|XM:NM_000055 |NA:M32391 |NA:BC008396 |NA:BC018141 |NA:M16474 |NA:M16541 |NA:none PAC|XP:NP_000046 SYM|BCHE NAM|butyrylcholinesterase SYN|E1 |CHE1 FNC|butyrylcholinesterase precursor REAB|Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous |persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium |in connection with surgical anesthesia. The activity of pseudocholinesterase in |the serum is low and its substrate behavior is atypical. In the absence of the relaxant, |the homozygote is at no known disadvantage. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422857 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=590[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120558 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000055 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000055 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=422857 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25294 DBL|UNIGENE:Hs.422857 |OMIM:177400 |SNP:590 |UWCM:120558.html ENZ|EC:3.1.1.8 |serine esterase activity ; GO:0004759 |cholinesterase activity ; GO:0004104 |hydrolase activity ; GO:0016787 MAP|3q26.1-q26.2 PHP|Apnea, postanesthetic HG|species == Mouse; gene == Bche; score == 1008; expect == 0.0; MEOW:MGgn0000710 (79%) |species == rat; score == 983; expect == 0.0; MEOW:ref|NP_075231.1| (80%) |species == Zfish; gene == ache; score == 653; expect == 0.0; MEOW:ZFgn0002325 (52%) |species == Human; gene == ACHE; score == 646; expect == 0.0; MEOW:HUgn0000043 (52%) |species == Mosquito; gene == LOC16929; score == 480; expect == 5e-136; MEOW:AGgn0016929 (47%) |species == Worm; gene == ace-1; score == 430; expect == 1e-120; MEOW:CEgn0000003 (40%) |species == Mosquito; score == 400; expect == 2e-111; MEOW:AGgn0020022 (38%) |species == Fruitfly; gene == Ace; score == 390; expect == 2e-108; MEOW:FBgn0000024 (37%) |species == Worm; gene == ace-4; score == 367; expect == 9e-102; MEOW:CEgn0018964 (38%) |species == Worm; gene == ace-2; score == 353; expect == 2.1e-97; MEOW:CEgn0000004 (37%) |species == Worm; gene == ace-3; score == 346; expect == 1.9e-95; MEOW:CEgn0000005 (37%) } # EOR GENR { RETE|ID 1 HUgn0000591 CHR 1 3 DID 1 LocusLink:591 MAP 1 3q21 NAM 1 butyrylcholinesterase-like 1 ORG 1 Homo sapiens SYM 1 BCHEL1 ID|HUgn0000591 DID|LocusLink:591 ORG|Homo sapiens SYM|BCHEL1 NAM|butyrylcholinesterase-like 1 SYN|CHEL1 CHR|3 MAP|3q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120559 } # EOR GENR { RETE|ID 1 HUgn0000592 CHR 1 16 DID 1 LocusLink:592 MAP 1 16q11-q23 NAM 1 butyrylcholinesterase-like 3 ORG 1 Homo sapiens SYM 1 BCHEL3 ID|HUgn0000592 DID|LocusLink:592 ORG|Homo sapiens SYM|BCHEL3 NAM|butyrylcholinesterase-like 3 SYN|CHEL3 CHR|16 MAP|16q11-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120560 } # EOR GENR { RETE|ID 1 HUgn0000593 CHR 1 19 DID 1 LocusLink:593 MAP 1 19q13.1-q13.2 NAM 1 branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) ORG 1 Homo sapiens SYM 1 BCKDHA ID|HUgn0000593 DID|LocusLink:593 ORG|Homo sapiens RSQ|REFSEQ:NM_000709 RPA|REFPROT:NP_000700 DBA|XM:NM_000709 |NA:AK127598 |NA:AL833143 |NA:BC007878 |NA:BC008933 |NA:BC023983 |NA:BE223026 |NA:BG742673 |NA:BI910860 |NA:BM702667 |NA:BQ018849 |NA:J04474 |NA:M22221 |NA:Z14093 |NA:none PAC|XP:NP_000700 SYM|BCKDHA NAM|branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) SYN|MSUD |MSUD1 FNC|branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) |metabolism ; GO:0008152 CHR|19 PRD|Branched chain keto acid dehydrogenase E1, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433307 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=593[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119723 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000709 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000709 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433307 |http://www.geneclinics.org/query?mim=248600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.433307 |OMIM:248600 |SNP:593 ENZ|EC:1.2.4.4 |alpha-ketoacid dehydrogenase activity ; GO:0003826 |3-methyl-2-oxobutanoate dehydrogenase (lipoamide) activity ; GO:0003863 MAP|19q13.1-q13.2 PHP|Maple syrup urine disease, type Ia CEL|alpha-ketoglutarate dehydrogenase complex (sensu Eukarya) ; GO:0005947 |mitochondrion ; GO:0005739 HG|species == rat; score == 823; expect == 0.0; MEOW:ref|XP_341806.1| (93%) |species == Mouse; gene == Bckdha; score == 811; expect == 0.0; MEOW:MGgn0000711 (92%) |species == Worm; gene == Y39E4A.3; score == 513; expect == 6e-146; MEOW:CEgn0018466 (63%) |species == Fruitfly; gene == CG8199; score == 506; expect == 1e-143; MEOW:FBgn0037709 (60%) |species == Mosquito; gene == LOC24601; score == 480; expect == 7e-136; MEOW:AGgn0024601 (59%) |species == Weed; gene == At5g09300; score == 405; expect == 3e-113; MEOW:ATgn0022004 (47%) |species == rice; score == 403; expect == 1e-112; MEOW:gnl|TIGR|8359.m00733 (49%) |species == Weed; gene == At1g21400; score == 396; expect == 2e-110; MEOW:ATgn0004686 (47%) |species == Yeast; gene == PDA1; score == 141; expect == 6.4e-34; MEOW:SGgn0000980 (28%) } # EOR GENR { RETE|ID 1 HUgn0000594 CHR 1 6 DID 1 LocusLink:594 MAP 1 6q13-q15 NAM 1 branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ORG 1 Homo sapiens SYM 1 BCKDHB ID|HUgn0000594 DID|LocusLink:594 ORG|Homo sapiens RSQ|REFSEQ:NM_000056 |REFSEQ:NM_183050 RPA|REFPROT:NP_000047 |REFPROT:NP_898871 DBA|XM:NM_000056 |NA:D90391 |NA:U51015 |NA:BC034481 |NA:BC040139 |NA:BM553932 |NA:M55575 |NA:U50708 |NA:U51016 |NA:X52446 |NA:none PAC|XP:NP_000047 SYM|BCKDHB NAM|branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) SYN|E1B FNC|branched chain keto acid dehydrogenase E1, beta polypeptide precursor REAB|Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the |inner membrane of mitochondria, and functions in the catabolism of branched-chain |amino acids. The complex consists of multiple copies of 3 components: branched-chain |alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide |dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein |have been associated with maple syrup urine disease (MSUD), type 1B. Alternative |splicing at this locus results in transcript variants with different 3' noncoding |regions, but encoding the same isoform. CHR|6 PRD|BCKDH E1-beta |2-oxoisovalerate dehydrogenase beta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1265 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=594[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118759 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183050 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183050 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1265 |http://www.geneclinics.org/query?mim=248611 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.1265 |OMIM:248611 |SNP:594 |UWCM:118759.html ENZ|EC:1.2.4.4 |3-methyl-2-oxobutanoate dehydrogenase (lipoamide) activity ; GO:0003863 |oxidoreductase activity ; GO:0016491 MAP|6q13-q15 PHP|Maple syrup urine disease, type Ib CEL|alpha-ketoglutarate dehydrogenase complex (sensu Eukarya) ; GO:0005947 |mitochondrion ; GO:0005739 HG|species == rat; score == 673; expect == 0.0; MEOW:ref|XP_343440.1| (93%) |species == Mosquito; gene == LOC19119; score == 492; expect == 1e-139; MEOW:AGgn0019119 (66%) |species == Fruitfly; gene == CG17691; score == 479; expect == 8e-136; MEOW:FBgn0039993 (64%) |species == Worm; gene == F27D4.5; score == 457; expect == 4e-129; MEOW:CEgn0009467 (65%) |species == Weed; gene == At1g55510; score == 435; expect == 2e-122; MEOW:ATgn0001679 (68%) |species == Weed; gene == At3g13450; score == 430; expect == 7e-121; MEOW:ATgn0011721 (67%) |species == rice; score == 355; expect == 4.0e-98; MEOW:gnl|TIGR|8355.m00640 (54%) |species == Yeast; gene == PDB1; score == 189; expect == 2.1e-48; MEOW:SGgn0000425 (32%) |species == Human; gene == PDHB; score == 183; expect == 1.1e-46; MEOW:HUgn0005162 (35%) |species == Mouse; gene == Pdhb; score == 183; expect == 1.1e-46; MEOW:MGgn0021033 (33%) } # EOR GENR { RETE|ID 1 HUgn0000595 CHR 1 11 DID 1 LocusLink:595 MAP 1 11q13 NAM 1 cyclin D1 (PRAD1: parathyroid adenomatosis 1) ORG 1 Homo sapiens SYM 1 CCND1 ID|HUgn0000595 DID|LocusLink:595 ORG|Homo sapiens RSQ|REFSEQ:NM_053056 RPA|REFPROT:NP_444284 DBA|XM:NM_053056 |NA:L09054 |NA:Z29078 |NA:BC000076 |NA:BC001501 |NA:BC014078 |NA:BC023620 |NA:BC025302 |NA:M64349 |NA:M73554 |NA:M74092 |NA:X59798 |NA:none PAC|XP:NP_444284 SYM|CCND1 NAM|cyclin D1 (PRAD1: parathyroid adenomatosis 1) SYN|BCL1 |PRAD1 |U21B31 |D11S287E FNC|cyclin D1 |G1/S transition of mitotic cell cycle ; GO:0000082 |cell growth and/or maintenance ; GO:0008151 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance throughout |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin forms a complex with and functions |as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle |G1/S transition. This protein has been shown to interact with tumor suppressor protein |Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification |and overexpression of this gene, which alters cell cycle progression, are observed |frequently in a variety of tumors and may contribute to tumorigenesis. CHR|11 PRD|B-cell CLL/lymphoma 1 |G1/S-specific cyclin D1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371468 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=595[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128222 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_053056 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_053056 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=371468 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.371468 |OMIM:168461 |SNP:595 MAP|11q13 PHP|Centrocytic lymphoma |Colorectal cancer, susceptibility to |Leukemia/lymphoma, B-cell, 1 |Multiple myeloma |Parathyroid adenomatosis 1 |von Hippel-Lindau disease, modification of CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Ccnd1; score == 494; expect == 2e-140; MEOW:MGgn0001124 (93%) |species == rat; score == 486; expect == 6e-138; MEOW:ref|NP_741989.2| (92%) |species == Zfish; gene == ccnd1; score == 430; expect == 5e-121; MEOW:ZFgn0000036 (76%) |species == Human; gene == CCND2; score == 307; expect == 5.1e-84; MEOW:HUgn0000894 (61%) |species == Human; gene == CCND3; score == 261; expect == 2.4e-70; MEOW:HUgn0000896 (55%) |species == Fruitfly; gene == CycD; score == 152; expect == 4.8e-37; MEOW:FBgn0010315 (37%) } # EOR GENR { RETE|ID 1 HUgn0000596 CHR 1 18 DID 1 LocusLink:596 MAP 1 18q21.33 NAM 1 B-cell CLL/lymphoma 2 ORG 1 Homo sapiens SYM 1 BCL2 ID|HUgn0000596 DID|LocusLink:596 ORG|Homo sapiens RSQ|REFSEQ:NM_000633 |REFSEQ:NM_000657 RPA|REFPROT:NP_000624 |REFPROT:NP_000648 DBA|XM:NM_000633 |XM:NM_000657 |NA:BC027258 |NA:M13994 |NA:M13995 |NA:M14745 |NA:X06487 |NA:none PAC|XP:NP_000624 |XP:NP_000648 SYM|BCL2 NAM|B-cell CLL/lymphoma 2 FNC|B-cell lymphoma protein 2 alpha |B-cell lymphoma protein 2 beta |negative regulation of cell proliferation ; GO:0008285 |anti-apoptosis ; GO:0006916 |cell growth and/or maintenance ; GO:0008151 |humoral immune response ; GO:0006959 |apoptosis ; GO:0006915 |regulation of cell cycle ; GO:0000074 REAB|BCL2 is an integral inner mitochondrial membrane protein that blocks the apoptotic |death of some cells such as lymphocytes. Constitutive expression of BCL2, such |as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be |the cause of follicular lymphoma. Two transcript variants, produced by alternate |splicing, differ in their C-terminal ends. Variant 1 is represented by a 5.5 kb |mRNA and includes most of exon 1 and exon 2. A 3.5 kb mRNA represents variant 2; |it includes all of exon 1 and lacks exon 2 sequence. CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79241 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=501181 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=596[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119031 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000633 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000633 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79241 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=501181 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05060 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05030 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25302 DBL|UNIGENE:Hs.79241 |UNIGENE:Hs.501181 |OMIM:151430 |SNP:596 MAP|18q21.33 PHP|Leukemia/lymphoma, B-cell, 2 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |mitochondrial inner membrane ; GO:0005743 HG|species == rat; score == 394; expect == 2e-110; MEOW:ref|NP_058689.1| (87%) |species == Mouse; gene == Bcl2l; score == 171; expect == 4.0e-43; MEOW:MGgn0000720 (47%) |species == rat; score == 157; expect == 3.5e-39; MEOW:ref|NP_113723.1| (45%) |species == Zfish; gene == bcl2l; score == 144; expect == 1.8e-36; MEOW:ZFgn0002311 (41%) |species == Human; gene == BCL2L2; score == 132; expect == 1.5e-31; MEOW:HUgn0000599 (46%) |species == rat; score == 132; expect == 2.2e-31; MEOW:ref|NP_068622.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0000597 CHR 1 15 DID 1 LocusLink:597 MAP 1 15q24.3 NAM 1 BCL2-related protein A1 ORG 1 Homo sapiens SYM 1 BCL2A1 ID|HUgn0000597 DID|LocusLink:597 ORG|Homo sapiens RSQ|REFSEQ:NM_004049 RPA|REFPROT:NP_004040 DBA|XM:NM_004049 |NA:BC016281 |NA:BG216703 |NA:U27467 |NA:U29680 |NA:Y09397 |NA:none PAC|XP:NP_004040 SYM|BCL2A1 NAM|BCL2-related protein A1 SYN|GRS |BFL1 |HBPA1 |BCL2L5 FNC|BCL2-related protein A1 |anti-apoptosis ; GO:0006916 |apoptosis ; GO:0006915 REAB|This gene encodes a member of the BCL-2 protein family. The proteins of this family |form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are |involved in a wide variety of cellular activities such as embryonic development, |homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce |the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. |This gene is a direct transcription target of NF-kappa B in response to inflammatory |mediators, and has been shown to be up-regulated by different extracellular signals, |such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol |ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function |that is essential for lymphocyte activation as well as cell survival. CHR|15 PRD|hematopoietic BCL2-related protein A1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=227817 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=597[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568488 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004049 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004049 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=227817 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.227817 |OMIM:601056 |SNP:597 MAP|15q24.3 ENZ|apoptosis inhibitor activity ; GO:0008189 HG|species == rat; score == 273; expect == 4.5e-74; MEOW:ref|NP_596907.1| (76%) |species == Mouse; gene == Bcl2a1d; score == 255; expect == 6.6e-69; MEOW:MGgn0000719 (72%) |species == Mouse; gene == Bcl2a1a; score == 251; expect == 1.1e-67; MEOW:MGgn0000716 (72%) |species == Mouse; gene == Bcl2a1b; score == 251; expect == 1.1e-67; MEOW:MGgn0000717 (71%) } # EOR GENR { RETE|ID 1 HUgn0000598 CHR 1 20 DID 1 LocusLink:598 MAP 1 20q11.21 NAM 1 BCL2-like 1 ORG 1 Homo sapiens SYM 1 BCL2L1 ID|HUgn0000598 DID|LocusLink:598 ORG|Homo sapiens RSQ|REFSEQ:NM_001191 |REFSEQ:NM_138578 RPA|REFPROT:NP_001182 |REFPROT:NP_612815 DBA|XM:NM_001191 |XM:NM_138578 |NA:U72398 |NA:BC019307 |NA:BX647525 |NA:Z23115 |NA:Z23116 |NA:none PAC|XP:NP_001182 |XP:NP_612815 SYM|BCL2L1 NAM|BCL2-like 1 SYN|BCLX |BCL2L |Bcl-X |bcl-xL |bcl-xS |BCL-XL/S FNC|BCL2-like 1 isoform 1 |BCL2-like 1 isoform 2 |apoptotic mitochondrial changes ; GO:0008637 |negative regulation of survival gene products ; GO:0008634 |anti-apoptosis ; GO:0006916 |apoptosis ; GO:0006915 REAB|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family |members form hetero- or homodimers and act as anti- or pro-apoptotic regulators |that are involved in a wide variety of cellular activities. The proteins encoded |by this gene are located at the outer mitochondrial membrane, and have been shown |to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates |mitochondrial membrane potential, and thus controls the production of reactive oxygen |species and release of cytochrome C by mitochondria, both of which are the potent |inducers of cell apoptosis. Two alternatively spliced transcript variants, which |encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic |inhibitor and the shorter form acts as an apoptotic activator. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=305890 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=598[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228079 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138578 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138578 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=305890 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05030 DBL|UNIGENE:Hs.305890 |OMIM:600039 |SNP:598 MAP|20q11.21 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == rat; score == 325; expect == 9.6e-90; MEOW:ref|XP_215026.2| (95%) |species == Mouse; gene == Bcl2l; score == 245; expect == 6.5e-66; MEOW:MGgn0000720 (97%) } # EOR GENR { RETE|ID 1 HUgn0000599 CHR 1 14 DID 1 LocusLink:599 MAP 1 14q11.2-q12 NAM 1 BCL2-like 2 ORG 1 Homo sapiens SYM 1 BCL2L2 ID|HUgn0000599 DID|LocusLink:599 ORG|Homo sapiens RSQ|REFSEQ:NM_004050 RPA|REFPROT:NP_004041 DBA|XM:NM_004050 |NA:D87461 |NA:U59747 |NA:none PAC|XP:NP_004041 SYM|BCL2L2 NAM|BCL2-like 2 SYN|BCLW |BCL-W |KIAA0271 FNC|BCL2-like 2 protein |anti-apoptosis ; GO:0006916 |spermatogenesis ; GO:0007283 |apoptosis ; GO:0006915 REAB|This gene encodes a member of the BCL-2 protein family. The proteins of this family |form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression |of this gene in cells has been shown to contribute to reduced cell apoptosis under |cytotoxic conditions. Studies of the related gene in mice indicated a role in the |survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the |mouse gene demonstrated an essential role in adult spermatogenesis. CHR|14 PRD|apoptosis regulator BCL-W URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410026 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=599[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6380588 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004050 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004050 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.410026 |OMIM:601931 |SNP:599 MAP|14q11.2-q12 ENZ|apoptosis inhibitor activity ; GO:0008189 HG|species == Mouse; gene == Bcl2l2; score == 325; expect == 6.2e-90; MEOW:MGgn0000722 (98%) |species == rat; score == 323; expect == 2.7e-89; MEOW:ref|NP_068622.1| (98%) |species == Zfish; gene == bcl2l; score == 142; expect == 1.6e-34; MEOW:ZFgn0002311 (48%) |species == Human; gene == BCL2; score == 132; expect == 1.5e-31; MEOW:HUgn0000596 (46%) } # EOR GENR { RETE|ID 1 HUgn0000600 CHR 1 20 DID 1 LocusLink:600 MAP 1 20 NAM 1 BCL2-like 7 pseudogene 1 ORG 1 Homo sapiens SYM 1 BCL2L7P1 ID|HUgn0000600 DID|LocusLink:600 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U16812 |NA:none SYM|BCL2L7P1 NAM|BCL2-like 7 pseudogene 1 SYN|BAK2 CHR|20 MAP|20 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:7218405 ENZ|molecular_function unknown ; GO:0005554 |apoptosis regulator activity ; GO:0016329 FNC|induction of apoptosis ; GO:0006917 |apoptosis ; GO:0006915 CEL|integral to membrane ; GO:0016021 } # EOR GENR { RETE|ID 1 HUgn0000601 CHR 1 11 DID 1 LocusLink:601 MAP 1 11 NAM 1 BCL2-like 7 pseudogene 2 ORG 1 Homo sapiens SYM 1 BCL2L7P2 ID|HUgn0000601 DID|LocusLink:601 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U16813 SYM|BCL2L7P2 NAM|BCL2-like 7 pseudogene 2 SYN|BAK3 |BAK3P CHR|11 MAP|11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:7218406 } # EOR GENR { RETE|ID 1 HUgn0000602 CHR 1 19 DID 1 LocusLink:602 MAP 1 19q13.1-q13.2 NAM 1 B-cell CLL/lymphoma 3 ORG 1 Homo sapiens SYM 1 BCL3 ID|HUgn0000602 DID|LocusLink:602 ORG|Homo sapiens RSQ|REFSEQ:NM_005178 RPA|REFPROT:NP_005169 DBA|XM:NM_005178 |NA:M31731 |NA:U05681 |NA:U05822 |NA:Z15098 |NA:M31732 |NA:none PAC|XP:NP_005169 SYM|BCL3 NAM|B-cell CLL/lymphoma 3 SYN|BCL4 FNC|B-cell CLL/lymphoma 3 |cytoplasmic sequestering of NF-kappaB ; GO:0007253 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 REAB|This gene is a proto-oncogene candidate. It is identified by its translocation into |the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded |by this gene contains seven ankyrin repeats, which are most closely related to those |found in I kappa B proteins. This protein functions as a transcriptional co-activator |that activates through its association with NF-kappa B homodimers. The expression |of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory |loop that controls the nuclear residence of p50 NF-kappa B. CHR|19 PRD|B-cell leukemia/lymphoma 3 |B-cell lymphoma 3-encoded protein |chronic lymphatic leukemia protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=31210 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=602[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120561 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005178 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005178 DBL|UNIGENE:Hs.31210 |OMIM:109560 |SNP:602 MAP|19q13.1-q13.2 PHP|Leukemia/lymphoma, B-cell, 3 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Bcl3; score == 620; expect == 5e-178; MEOW:MGgn0000723 (78%) |species == rat; score == 583; expect == 6e-167; MEOW:ref|XP_214856.2| (76%) |species == Human; gene == NFKBIE; score == 161; expect == 6.0e-40; MEOW:HUgn0004794 (42%) |species == Human; gene == NFKB2; score == 149; expect == 3.1e-36; MEOW:HUgn0004791 (40%) } # EOR GENR { RETE|ID 1 HUgn0000603 CHR 1 17 DID 1 LocusLink:603 MAP 1 17q23.2 NAM 1 B-cell CLL/lymphoma 5 ORG 1 Homo sapiens SYM 1 BCL5 ID|HUgn0000603 DID|LocusLink:603 ORG|Homo sapiens SYM|BCL5 NAM|B-cell CLL/lymphoma 5 CHR|17 DBL|OMIM:151441 MAP|17q23.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125178 } # EOR GENR { RETE|ID 1 HUgn0000604 CHR 1 3 DID 1 LocusLink:604 MAP 1 3q27 NAM 1 B-cell CLL/lymphoma 6 (zinc finger protein 51) ORG 1 Homo sapiens SYM 1 BCL6 ID|HUgn0000604 DID|LocusLink:604 ORG|Homo sapiens RSQ|REFSEQ:NM_001706 |REFSEQ:NM_138931 RPA|REFPROT:NP_001697 |REFPROT:NP_620309 DBA|XM:NM_001706 |XM:NM_138931 |NA:AF240680 |NA:M88362 |NA:Z79581 |NA:AI624861 |NA:BX649185 |NA:S67779 |NA:U00115 |NA:Z21943 |NA:none PAC|XP:NP_001697 |XP:NP_620309 SYM|BCL6 NAM|B-cell CLL/lymphoma 6 (zinc finger protein 51) SYN|BCL5 |LAZ3 |ZNF51 FNC|B-cell lymphoma 6 protein |cell growth and/or maintenance ; GO:0008151 |positive regulation of cell proliferation ; GO:0008284 |regulation of transcription, DNA-dependent ; GO:0006355 |inflammatory response ; GO:0006954 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|The protein encoded by this gene is a zinc finger transcription factor and contains |an N-terminal POZ domain. This protein acts as a sequence-specific repressor of |transcription, and has been shown to modulate the transcription of START-dependent |IL-4 responses of B cells. This protein can interact with a variety of POZ-containing |proteins that function as transcription corepressors. This gene is found to be frequently |translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be |involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants |that encode the identical protein have been reported for this gene. CHR|3 PRD|B-cell CLL/lymphoma-6 |zinc finger protein 51 |cys-his2 zinc finger transcription factor |lymphoma-associated zinc finger gene on chromosome 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155024 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=604[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138176 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138931 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138931 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25312 DBL|UNIGENE:Hs.155024 |OMIM:109565 |SNP:604 MAP|3q27 PHP|Lymphoma, B-cell ENZ|protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 |mediator complex ; GO:0000119 HG|species == rat; score == 1381; expect == 0.0; MEOW:ref|XP_221333.1| (95%) |species == Mouse; gene == Bcl6; score == 1378; expect == 0.0; MEOW:MGgn0000725 (94%) |species == Human; gene == BCL6B; score == 341; expect == 9.5e-94; MEOW:HUgn0255877 (50%) |species == Mosquito; gene == LOC25055; score == 165; expect == 5.2e-41; MEOW:AGgn0025055 (37%) |species == Fruitfly; gene == CG1832; score == 165; expect == 4.2e-41; MEOW:FBgn0032979 (33%) |species == Mosquito; score == 164; expect == 6.8e-41; MEOW:AGgn0020855 (36%) |species == Fruitfly; gene == Kr; score == 163; expect == 1.6e-40; MEOW:FBgn0001325 (41%) |species == Mosquito; gene == LOC21008; score == 161; expect == 9.8e-40; MEOW:AGgn0021008 (43%) |species == Mosquito; gene == LOC16645; score == 159; expect == 3.7e-39; MEOW:AGgn0016645 (48%) |species == Mosquito; score == 159; expect == 2.2e-39; MEOW:AGgn0025710 (43%) |species == Mosquito; score == 158; expect == 6.4e-39; MEOW:AGgn0026858 (34%) |species == Mosquito; score == 158; expect == 6.4e-39; MEOW:AGgn0027372 (34%) |species == Mosquito; score == 157; expect == 1.1e-38; MEOW:AGgn0004837 (49%) |species == Mosquito; gene == LOC9474; score == 157; expect == 1.4e-38; MEOW:AGgn0009474 (38%) |species == Fruitfly; gene == Kr-h1; score == 154; expect == 7.4e-38; MEOW:FBgn0028420 (42%) |species == Mosquito; score == 152; expect == 4.6e-37; MEOW:AGgn0021009 (39%) |species == Fruitfly; gene == CG31632; score == 151; expect == 6.2e-37; MEOW:FBgn0051632 (40%) |species == Zfish; gene == drl; score == 151; expect == 7.1e-38; MEOW:ZFgn0000666 (33%) |species == Fruitfly; gene == Meics; score == 150; expect == 1.4e-36; MEOW:FBgn0025874 (33%) |species == Fruitfly; gene == CG7312; score == 147; expect == 9.0e-36; MEOW:FBgn0031375 (38%) |species == Fruitfly; gene == CG6654; score == 146; expect == 3.4e-35; MEOW:FBgn0038301 (38%) |species == Zfish; gene == fezl; score == 144; expect == 1.1e-35; MEOW:ZFgn0001940 (38%) |species == Fruitfly; gene == crol; score == 141; expect == 8.4e-34; MEOW:FBgn0020309 (36%) |species == Fruitfly; gene == CG6254; score == 140; expect == 1.9e-33; MEOW:FBgn0037794 (41%) |species == Fruitfly; gene == CG15269; score == 138; expect == 7.1e-33; MEOW:FBgn0028878 (39%) |species == chimp; score == 137; expect == 3.7e-34; MEOW:sp|Q95236|Q95236 (44%) |species == Worm; gene == odd-3; score == 135; expect == 5.4e-32; MEOW:CEgn0009245 (40%) |species == Worm; gene == pag-3; score == 132; expect == 4.6e-31; MEOW:CEgn0002299 (38%) |species == Worm; gene == Y38H8A.5; score == 131; expect == 7.8e-31; MEOW:CEgn0018347 (37%) |species == chimp; score == 127; expect == 5.0e-31; MEOW:sp|P51506|ZN80_PANTR (37%) } # EOR GENR { RETE|ID 1 HUgn0000605 CHR 1 12 DID 1 LocusLink:605 MAP 1 12q24.13 NAM 1 B-cell CLL/lymphoma 7A ORG 1 Homo sapiens SYM 1 BCL7A ID|HUgn0000605 DID|LocusLink:605 ORG|Homo sapiens RSQ|REFSEQ:NM_020993 RPA|REFPROT:NP_066273 DBA|XM:NM_020993 |NA:X89984 PAC|XP:NP_066273 SYM|BCL7A NAM|B-cell CLL/lymphoma 7A SYN|BCL7 FNC|B-cell CLL/lymphoma 7A REAB|This gene is directly involved, with Myc and IgH, in a three-way gene translocation |in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal |region of the gene product is disrupted, which is thought to be related to the pathogenesis |of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved |in the translocation includes the region that shares a strong sequence similarity |with those of BCL7B and BCL7C. CHR|12 PRD|B-cell CLL/lymphoma-7 DBL|OMIM:601406 |SNP:605 MAP|12q24.13 PHP|B-cell non-Hodgkin lymphoma, high-grade URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=605[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:596183 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020993 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020993 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25314 ENZ|actin binding ; GO:0003779 HG|species == Mouse; gene == Bcl7a; score == 313; expect == 3.2e-86; MEOW:MGgn0022821 (85%) } # EOR GENR { RETE|ID 1 HUgn0000606 CHR 1 15 DID 1 LocusLink:606 MAP 1 15q11-q13 NAM 1 B-cell CLL/lymphoma 8 ORG 1 Homo sapiens SYM 1 BCL8 ID|HUgn0000606 DID|LocusLink:606 ORG|Homo sapiens SYM|BCL8 NAM|B-cell CLL/lymphoma 8 CHR|15 DBL|OMIM:601889 MAP|15q11-q13 PHP|Lymphoma, diffuse large cell URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5987258 } # EOR GENR { RETE|ID 1 HUgn0000607 CHR 1 1 DID 1 LocusLink:607 MAP 1 1q21 NAM 1 B-cell CLL/lymphoma 9 ORG 1 Homo sapiens SYM 1 BCL9 ID|HUgn0000607 DID|LocusLink:607 ORG|Homo sapiens RSQ|REFSEQ:NM_004326 RPA|REFPROT:NP_004317 DBA|XM:NM_004326 |NA:Y13620 |NA:none PAC|XP:NP_004317 SYM|BCL9 NAM|B-cell CLL/lymphoma 9 SYN|LGS FNC|B-cell CLL/lymphoma 9 |cell growth and/or maintenance ; GO:0008151 REAB|BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of |translocation in B-cell malignancies with abnormalities of 1q21. Its function is |unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell |malignancies. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=415209 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=607[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278918 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004326 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004326 DBL|UNIGENE:Hs.415209 |OMIM:602597 |SNP:607 MAP|1q21 CEL|nucleus ; GO:0005634 HG|species == rat; score == 2135; expect == 0.0; MEOW:ref|XP_241475.2| (93%) |species == Human; gene == LOC283149; score == 488; expect == 1e-137; MEOW:HUgn0283149 (34%) |species == Mouse; gene == Bcl9; score == 308; expect == 1.8e-84; MEOW:MGgn0027441 (95%) } # EOR GENR { RETE|ID 1 HUgn0000608 CHR 1 16 DID 1 LocusLink:608 MAP 1 16p13.1 NAM 1 tumor necrosis factor receptor superfamily, member 17 ORG 1 Homo sapiens SYM 1 TNFRSF17 ID|HUgn0000608 DID|LocusLink:608 ORG|Homo sapiens RSQ|REFSEQ:NM_001192 RPA|REFPROT:NP_001183 DBA|XM:NM_001192 |NA:AB052772 |NA:U95742 |NA:Z29574 |NA:BC058291 |NA:Z14954 |NA:Z29575 |NA:none PAC|XP:NP_001183 SYM|TNFRSF17 NAM|tumor necrosis factor receptor superfamily, member 17 SYN|BCM |BCMA FNC|tumor necrosis factor receptor superfamily, member 17 |development ; GO:0007275 |immune response ; GO:0006955 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The protein encoded by this gene is a member of the TNF-receptor superfamily. This |receptor is preferentially expressed in mature B lymphocytes, and may be important |for B cell development and autoimmune response. This receptor has been shown to |specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b |(TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This |receptor also binds to various TRAF family members, and thus may transduce signals |for cell survival and proliferation. CHR|16 PRD|B-cell maturation factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2556 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=608[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135977 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001192 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001192 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2556 DBL|UNIGENE:Hs.2556 |OMIM:109545 |SNP:608 MAP|16p13.1 ENZ|receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Tnfrsf17; score == 223; expect == 2.3e-59; MEOW:MGgn0012420 (63%) |species == rat; score == 221; expect == 2.3e-58; MEOW:ref|XP_213211.2| (61%) } # EOR GENR { RETE|ID 1 HUgn0000610 CHR 1 19 DID 1 LocusLink:610 MAP 1 19p13.3 NAM 1 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 ORG 1 Homo sapiens SYM 1 HCN2 ID|HUgn0000610 DID|LocusLink:610 ORG|Homo sapiens RSQ|REFSEQ:NM_001194 RPA|REFPROT:NP_001185 DBA|XM:NM_001194 |NA:AC005559 |NA:AJ133727 |NA:AF064877 |NA:AF065164 |NA:AJ012582 |NA:BC039619 PAC|XP:NP_001185 SYM|HCN2 NAM|hyperpolarization activated cyclic nucleotide-gated potassium channel 2 SYN|BCNG2 |HAC-1 |BCNG-2 FNC|hyperpolarization activated cyclic nucleotide-gated potassium channel 2 |cation transport ; GO:0006812 |sodium ion transport ; GO:0006814 |potassium ion transport ; GO:0006813 CHR|19 PRD|brain cyclic nucleotide gated channel 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=124161 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=610[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864249 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001194 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001194 DBL|UNIGENE:Hs.124161 |OMIM:602781 |SNP:610 MAP|19p13.3 ENZ|voltage-gated potassium channel activity ; GO:0005249 |3',5'-cAMP binding ; GO:0030552 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1187; expect == 0.0; MEOW:ref|XP_343171.1| (94%) |species == Mouse; gene == Hcn2; score == 1186; expect == 0.0; MEOW:MGgn0005318 (94%) |species == rat; score == 961; expect == 0.0; MEOW:ref|NP_067690.1| (88%) |species == Human; gene == HCN4; score == 956; expect == 0.0; MEOW:HUgn0010021 (78%) |species == Human; gene == HCN1; score == 897; expect == 0.0; MEOW:HUgn0348980 (84%) |species == Human; gene == HCN3; score == 828; expect == 0.0; MEOW:HUgn0057657 (64%) |species == Mosquito; score == 618; expect == 2e-177; MEOW:AGgn0006339 (60%) |species == Fruitfly; gene == Ih; score == 448; expect == 2e-126; MEOW:FBgn0028428 (66%) } # EOR GENR { RETE|ID 1 HUgn0000611 CHR 1 7 DID 1 LocusLink:611 MAP 1 7q31.3-q32 NAM 1 opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) ORG 1 Homo sapiens SYM 1 OPN1SW ID|HUgn0000611 DID|LocusLink:611 ORG|Homo sapiens RSQ|REFSEQ:NM_001708 RPA|REFPROT:NP_001699 DBA|XM:NM_001708 |XM:NM_001708 |NA:M13299 |NA:U53874 |NA:none PAC|XP:NP_001699 |XP:NP_001699 SYM|OPN1SW NAM|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) SYN|BCP |CBT FNC|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) |phototransduction ; GO:0007602 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |vision ; GO:0007601 |signal transduction ; GO:0007165 CHR|7 PRD|blue cone pigment URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=102119 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=611[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119032 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001708 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001708 |http://www.retina-international.com/sci-news/cppmut.htm DBL|UNIGENE:Hs.102119 |OMIM:190900 |SNP:611 MAP|7q31.3-q32 PHP|Colorblindness, tritan ENZ|G-protein coupled photoreceptor activity ; GO:0008020 |opsin ; GO:0015053 |receptor activity ; GO:0004872 |blue light photoreceptor activity ; GO:0009882 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 690; expect == 0.0; MEOW:sp|AAB95490|AAB95490 (100%) |species == rat; score == 605; expect == 9e-174; MEOW:ref|NP_112277.1| (87%) |species == Mouse; gene == Opn1sw; score == 604; expect == 3e-173; MEOW:MGgn0000729 (86%) |species == Zfish; gene == opn1sw2; score == 398; expect == 1e-112; MEOW:ZFgn0000623 (61%) |species == Human; gene == RHO; score == 299; expect == 1.7e-81; MEOW:HUgn0006010 (45%) |species == Human; gene == OPN1MW; score == 282; expect == 3.0e-76; MEOW:HUgn0002652 (43%) |species == Human; gene == OPN1LW; score == 281; expect == 4.0e-76; MEOW:HUgn0005956 (41%) |species == Mosquito; gene == LOC14846; score == 137; expect == 3.8e-33; MEOW:AGgn0014846 (30%) |species == Mosquito; gene == LOC11949; score == 136; expect == 2.2e-32; MEOW:AGgn0011949 (27%) |species == Mosquito; gene == LOC1159; score == 134; expect == 4.2e-32; MEOW:AGgn0001159 (29%) } # EOR GENR { RETE|ID 1 HUgn0000612 CHR 1 3 DID 1 LocusLink:612 MAP 1 3q21-q24 NAM 1 benign chronic pemphigus (Hailey-Hailey disease) ORG 1 Homo sapiens SYM 1 BCPM ID|HUgn0000612 DID|LocusLink:612 ORG|Homo sapiens SYM|BCPM NAM|benign chronic pemphigus (Hailey-Hailey disease) SYN|HHD CHR|3 DBL|OMIM:169600 MAP|3q21-q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433809 |http://www.geneclinics.org/query?mim=169600 } # EOR GENR { RETE|ID 1 HUgn0000613 CHR 1 22 DID 1 LocusLink:613 MAP 1 22q11 NAM 1 breakpoint cluster region ORG 1 Homo sapiens SYM 1 BCR ID|HUgn0000613 DID|LocusLink:613 ORG|Homo sapiens RSQ|REFSEQ:NM_004327 |REFSEQ:NM_021574 RPA|REFPROT:NP_004318 |REFPROT:NP_067585 DBA|XM:NM_004327 |XM:NM_021574 |NA:L02935 |NA:M55395 |NA:U07000 |NA:X52828 |NA:X52829 |NA:M64437 |NA:X02596 |NA:X06418 |NA:Y00661 |NA:none PAC|XP:NP_004318 |XP:NP_067585 SYM|BCR NAM|breakpoint cluster region SYN|ALL |CML |PHL |BCR1 |D22S11 |D22S662 FNC|breakpoint cluster region isoform 1 |breakpoint cluster region isoform 2 |protein amino acid phosphorylation ; GO:0006468 |oncogenesis ; GO:0007048 |signal transduction ; GO:0007165 REAB|A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia |chromosome, which is often found in patients with chronic myelogenous leukemia. |The chromosome 22 breakpoint for this translocation is located within the BCR gene. |The translocation produces a fusion protein which is encoded by sequence from both |BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion |protein has been extensively studied, the function of the normal BCR gene product |is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating |protein for p21rac. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446394 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=613[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004327 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004327 |http://www.ncbi.nlm.nih.gov/disease/cml.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.446394 |OMIM:151410 |SNP:613 MAP|22q11 PHP|Leukemia, chronic myeloid, Leukemia, acute lymphocytic ENZ|protein serine/threonine kinase activity ; GO:0004674 |GTPase activator activity ; GO:0005096 HG|species == rat; score == 1116; expect == 0.0; MEOW:ref|XP_220717.2| (63%) |species == Human; gene == ABR; score == 1102; expect == 0.0; MEOW:HUgn0000029 (69%) |species == rat; score == 911; expect == 0.0; MEOW:ref|XP_228091.2| (95%) |species == Mosquito; score == 328; expect == 3.5e-90; MEOW:AGgn0017783 (35%) |species == Fruitfly; gene == RhoGAP1A; score == 261; expect == 1.2e-69; MEOW:FBgn0025836 (35%) |species == Mouse; gene == 0710001E19Rik; score == 131; expect == 2.3e-31; MEOW:MGgn0015508 (42%) } # EOR GENR { RETE|ID 1 HUgn0000614 CHR 1 22 DID 1 LocusLink:614 MAP 1 22q11 NAM 1 breakpoint cluster region-like 2 ORG 1 Homo sapiens SYM 1 BCRL2 ID|HUgn0000614 DID|LocusLink:614 ORG|Homo sapiens SYM|BCRL2 NAM|breakpoint cluster region-like 2 SYN|BCR2 CHR|22 DBL|OMIM:113630 MAP|22q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120563 } # EOR GENR { RETE|ID 1 HUgn0000615 CHR 1 22 DID 1 LocusLink:615 MAP 1 22q11 NAM 1 breakpoint cluster region-like 3 ORG 1 Homo sapiens SYM 1 BCRL3 ID|HUgn0000615 DID|LocusLink:615 ORG|Homo sapiens SYM|BCRL3 NAM|breakpoint cluster region-like 3 SYN|BCR3 CHR|22 DBL|OMIM:113640 MAP|22q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120564 } # EOR GENR { RETE|ID 1 HUgn0000616 CHR 1 22 DID 1 LocusLink:616 MAP 1 22q11 NAM 1 breakpoint cluster region-like 4 ORG 1 Homo sapiens SYM 1 BCRL4 ID|HUgn0000616 DID|LocusLink:616 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D87002 SYM|BCRL4 NAM|breakpoint cluster region-like 4 SYN|BCR4 CHR|22 DBL|OMIM:113660 |SNP:616 MAP|22q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120565 } # EOR GENR { RETE|ID 1 HUgn0000617 CHR 1 2 DID 1 LocusLink:617 MAP 1 2q33 NAM 1 BCS1-like (yeast) ORG 1 Homo sapiens SYM 1 BCS1L ID|HUgn0000617 DID|LocusLink:617 ORG|Homo sapiens RSQ|REFSEQ:NM_004328 RPA|REFPROT:NP_004319 DBA|XM:NM_004328 |NA:AF026849 |NA:AF038195 |NA:AK096210 |NA:BC000416 |NA:BC007500 |NA:BX571752 PAC|XP:NP_004319 SYM|BCS1L NAM|BCS1-like (yeast) SYN|BCS |BCS1 |FLNMS |h-BCS |GRACILE |Hs.6719 FNC|BCS1-like |energy derivation by oxidation of organic compounds ; GO:0015980 |protein complex assembly ; GO:0006461 REAB|The human BCS1L gene encodes a homolog of S. cerevisiae bcs1 protein involved in |the assembly of complex III of the mitochondrial respiratory chain.[supplied by |OMIM] CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150922 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=617[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862757 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004328 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004328 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150922 |http://www.geneclinics.org/query?mim=603647 DBL|UNIGENE:Hs.150922 |OMIM:603647 |SNP:617 MAP|2q33 PHP|GRACILE syndrome |Leigh syndrome |Tubulopathy, encephalopathy, and liver failure due to complex III deficiency ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 CEL|respiratory chain complex III (sensu Eukarya) ; GO:0005750 HG|species == rat; score == 771; expect == 0.0; MEOW:ref|XP_217434.2| (94%) |species == Mouse; gene == Bcs1l; score == 766; expect == 0.0; MEOW:MGgn0026977 (94%) |species == Mosquito; score == 529; expect == 1e-150; MEOW:AGgn0013378 (62%) |species == Fruitfly; gene == CG4908; score == 516; expect == 7e-147; MEOW:FBgn0032195 (60%) |species == Yeast; gene == BCS1; score == 423; expect == 9e-119; MEOW:SGgn0002783 (50%) |species == Worm; gene == F54C9.6; score == 392; expect == 2e-109; MEOW:CEgn0011748 (49%) } # EOR GENR { RETE|ID 1 HUgn0000618 CHR 1 2 DID 1 LocusLink:618 MAP 1 2p16 NAM 1 brain cytoplasmic RNA 1, Bc1 analog (mouse) ORG 1 Homo sapiens SYM 1 BCYRN1 ID|HUgn0000618 DID|LocusLink:618 ORG|Homo sapiens DBA|NA:AF020057 SYM|BCYRN1 NAM|brain cytoplasmic RNA 1, Bc1 analog (mouse) SYN|BC200 |BC200a CHR|2 PRD|brain cytoplasmic RNA 1 (analog of mouse Bc1) DBL|OMIM:606089 MAP|2p16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9957704 } # EOR GENR { RETE|ID 1 HUgn0000619 DID 1 LocusLink:619 NAM 1 brain cytoplasmic RNA 1, pseudogene 1 ORG 1 Homo sapiens SYM 1 BCYRN1P1 ID|HUgn0000619 DID|LocusLink:619 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U01307 SYM|BCYRN1P1 NAM|brain cytoplasmic RNA 1, pseudogene 1 SYN|BC200b URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9957706 } # EOR GENR { RETE|ID 1 HUgn0000620 DID 1 LocusLink:620 NAM 1 brain cytoplasmic RNA 1, pseudogene 2 ORG 1 Homo sapiens SYM 1 BCYRN1P2 ID|HUgn0000620 DID|LocusLink:620 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U01308 SYM|BCYRN1P2 NAM|brain cytoplasmic RNA 1, pseudogene 2 SYN|BC200g URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9957707 } # EOR GENR { RETE|ID 1 HUgn0000622 CHR 1 3 DID 1 LocusLink:622 MAP 1 3q29 NAM 1 3-hydroxybutyrate dehydrogenase (heart, mitochondrial) ORG 1 Homo sapiens SYM 1 BDH ID|HUgn0000622 DID|LocusLink:622 ORG|Homo sapiens RSQ|REFSEQ:NM_004051 RPA|REFPROT:NP_004042 DBA|XM:NM_004051 |NA:BC005844 |NA:BC011964 |NA:BC019317 |NA:BC021183 |NA:BE782251 |NA:M93107 |NA:none PAC|XP:NP_004042 SYM|BDH NAM|3-hydroxybutyrate dehydrogenase (heart, mitochondrial) FNC|3-hydroxybutyrate dehydrogenase precursor |metabolism ; GO:0008152 REAB|The protein encoded by this gene is a lipid-requiring mitochondrial membrane enzyme. |This protein has a specific requirement of phosphatidylcholine for optimal enzymatic |function and is a member of the short-chain alcohol dehydrogenase superfamily. CHR|3 PRD|(R)-3-hydroxybutyrate dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434560 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=622[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135718 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004051 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004051 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434560 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00072 DBL|UNIGENE:Hs.434560 |OMIM:603063 |SNP:622 ENZ|EC:1.1.1.30 |3-hydroxybutyrate dehydrogenase activity ; GO:0003858 |oxidoreductase activity ; GO:0016491 MAP|3q29 CEL|mitochondrial matrix ; GO:0005759 HG|species == Mouse; gene == Bdh; score == 602; expect == 1e-172; MEOW:MGgn0019777 (86%) |species == rat; score == 602; expect == 7e-173; MEOW:ref|NP_446447.1| (86%) |species == Human; gene == RODH; score == 193; expect == 9.1e-50; MEOW:HUgn0008630 (40%) |species == Human; gene == SDR-O; score == 189; expect == 2.2e-48; MEOW:HUgn0121214 (39%) |species == Human; gene == RDHL; score == 188; expect == 3.0e-48; MEOW:HUgn0010170 (36%) |species == Human; gene == RODH-4; score == 177; expect == 8.8e-45; MEOW:HUgn0008608 (40%) |species == Fruitfly; gene == CG8888; score == 169; expect == 2.4e-42; MEOW:FBgn0033679 (33%) |species == Human; gene == HSD17B2; score == 168; expect == 4.1e-42; MEOW:HUgn0003294 (37%) |species == Worm; gene == dhs-2; score == 162; expect == 2.1e-40; MEOW:CEgn0030819 (33%) |species == Human; gene == RDH5; score == 161; expect == 5.0e-40; MEOW:HUgn0005959 (36%) |species == Worm; gene == F55E10.6; score == 150; expect == 8.3e-37; MEOW:CEgn0011952 (34%) } # EOR GENR { RETE|ID 1 HUgn0000623 CHR 1 14 DID 1 LocusLink:623 MAP 1 14q32.1-q32.2 NAM 1 bradykinin receptor B1 ORG 1 Homo sapiens SYM 1 BDKRB1 ID|HUgn0000623 DID|LocusLink:623 ORG|Homo sapiens RSQ|REFSEQ:NM_000710 RPA|REFPROT:NP_000701 DBA|XM:NM_000710 |NA:U22346 |NA:U48231 |NA:AJ238044 |NA:BC034705 |NA:U12512 |NA:W49512 |NA:none PAC|XP:NP_000701 SYM|BDKRB1 NAM|bradykinin receptor B1 SYN|B1R |BKR1 |B1BKR |BRADYB1 FNC|bradykinin receptor B1 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |inflammatory response ; GO:0006954 REAB|Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, |trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have |been found which bind bradykinin and mediate responses to these pathophysiologic |conditions. The protein encoded by this gene is one of these receptors and is synthesized |de novo following tissue injury. Receptor binding leads to an increase in the cytosolic |calcium ion concentration, ultimately resulting in chronic and acute inflammatory |responses. CHR|14 PRD|BK-1 receptor |bradykinin receptor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=46348 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=623[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138169 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000710 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000710 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=46348 DBL|UNIGENE:Hs.46348 |OMIM:600337 |SNP:623 MAP|14q32.1-q32.2 ENZ|bradykinin receptor activity ; GO:0004947 |rhodopsin-like receptor activity ; GO:0001584 CEL|endoplasmic reticulum ; GO:0005783 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Bdkrb1; score == 456; expect == 8e-129; MEOW:MGgn0000734 (73%) |species == rat; score == 450; expect == 6e-127; MEOW:ref|NP_110478.1| (72%) |species == Human; gene == BDKRB2; score == 213; expect == 1.9e-55; MEOW:HUgn0000624 (39%) |species == chimp; score == 168; expect == 9.1e-44; MEOW:sp|Q9GLN9|Q9GLN9 (33%) |species == Zfish; gene == oprm1; score == 127; expect == 6.4e-31; MEOW:ZFgn0002044 (28%) } # EOR GENR { RETE|ID 1 HUgn0000624 CHR 1 14 DID 1 LocusLink:624 MAP 1 14q32.1-q32.2 NAM 1 bradykinin receptor B2 ORG 1 Homo sapiens SYM 1 BDKRB2 ID|HUgn0000624 DID|LocusLink:624 ORG|Homo sapiens RSQ|REFSEQ:NM_000623 RPA|REFPROT:NP_000614 DBA|XM:NM_000623 |NA:AF378542 |NA:L27594 |NA:S45489 |NA:S56772 |NA:X86162 |NA:X86172 |NA:X86173 |NA:AI095360 |NA:AY275465 |NA:M88714 |NA:X69680 |NA:X86164 |NA:X86165 |NA:none PAC|XP:NP_000614 SYM|BDKRB2 NAM|bradykinin receptor B2 SYN|B2R |BK2 |BK-2 |BKR2 |BRB2 FNC|bradykinin receptor B2 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |cytosolic calcium ion concentration elevation ; GO:0007204 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |sensory perception ; GO:0007600 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 |smooth muscle contraction ; GO:0006939 |invasive growth ; GO:0007125 |inflammatory response ; GO:0006954 REAB|This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits |many responses including vasodilation, edema, smooth muscle spasm and pain fiber |stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium |second messenger system. Alternate start codons result in two isoforms of the protein. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250882 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=624[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135713 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000623 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000623 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA80 DBL|UNIGENE:Hs.250882 |OMIM:113503 |SNP:624 MAP|14q32.1-q32.2 ENZ|bradykinin receptor activity ; GO:0004947 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 606; expect == 6e-174; MEOW:ref|NP_775123.1| (80%) |species == Mouse; gene == Bdkrb2; score == 604; expect == 2e-173; MEOW:MGgn0000735 (81%) |species == Human; gene == BDKRB1; score == 213; expect == 1.9e-55; MEOW:HUgn0000623 (39%) |species == Human; gene == AGTR2; score == 183; expect == 1.6e-46; MEOW:HUgn0000186 (33%) |species == chimp; score == 167; expect == 2.3e-43; MEOW:sp|Q9GLN9|Q9GLN9 (32%) |species == chimp; score == 147; expect == 1.9e-37; MEOW:sp|Q28807|IL8B_PANTR (32%) |species == chimp; score == 147; expect == 1.4e-37; MEOW:sp|Q8HZN8|Q8HZN8 (32%) |species == chimp; score == 142; expect == 4.6e-36; MEOW:sp|P55920|IL8A_PANTR (32%) |species == Zfish; gene == cxcr4b; score == 140; expect == 6.3e-35; MEOW:ZFgn0002126 (31%) |species == chimp; score == 136; expect == 5.6e-34; MEOW:sp|P30991|CCR4_HUMAN (30%) |species == Zfish; gene == cxcr4a; score == 134; expect == 3.5e-33; MEOW:ZFgn0002418 (31%) |species == chimp; score == 134; expect == 2.1e-33; MEOW:sp|O18772|O18772 (26%) |species == chimp; score == 134; expect == 2.1e-33; MEOW:sp|Q9TUW6|Q9TUW6 (27%) |species == chimp; score == 134; expect == 1.6e-33; MEOW:sp|Q9TV50|Q9TV50 (27%) } # EOR GENR { RETE|ID 1 HUgn0000625 CHR 1 X DID 1 LocusLink:625 MAP 1 X NAM 1 behavior disorder modifier ORG 1 Homo sapiens SYM 1 BDM ID|HUgn0000625 DID|LocusLink:625 ORG|Homo sapiens SYM|BDM NAM|behavior disorder modifier CHR|X MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119035 } # EOR GENR { RETE|ID 1 HUgn0000626 CHR 1 2 DID 1 LocusLink:626 MAP 1 2q37 NAM 1 brachydactyly-mental retardation syndrome ORG 1 Homo sapiens SYM 1 BDMR ID|HUgn0000626 DID|LocusLink:626 ORG|Homo sapiens SYM|BDMR NAM|brachydactyly-mental retardation syndrome SYN|AHO3 CHR|2 DBL|OMIM:600430 MAP|2q37 PHP|Brachydactyly-mental retardation syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:533064 } # EOR GENR { RETE|ID 1 HUgn0000627 CHR 1 11 DID 1 LocusLink:627 MAP 1 11p13 NAM 1 brain-derived neurotrophic factor ORG 1 Homo sapiens SYM 1 BDNF ID|HUgn0000627 DID|LocusLink:627 ORG|Homo sapiens RSQ|REFSEQ:NM_001709 |REFSEQ:NM_170731 |REFSEQ:NM_170732 |REFSEQ:NM_170733 |REFSEQ:NM_170734 |REFSEQ:NM_170735 RPA|REFPROT:NP_001700 |REFPROT:NP_733927 |REFPROT:NP_733928 |REFPROT:NP_733929 |REFPROT:NP_733930 |REFPROT:NP_733931 DBA|XM:NM_001709 |XM:NM_170731 |XM:NM_170732 |XM:NM_170733 |XM:NM_170734 |XM:NM_170735 |NA:AY011481 |NA:M37762 |NA:M61181 |NA:X60202 |NA:AB038670 |NA:AB038671 |NA:AB038672 |NA:AB038673 |NA:AB038674 |NA:AF400438 |NA:AY054391 |NA:AY054392 |NA:AY054393 |NA:AY054394 |NA:AY054395 |NA:AY054396 |NA:AY054397 |NA:AY054398 |NA:AY054399 |NA:AY054400 |NA:AY054401 |NA:AY054402 |NA:AY054403 |NA:AY054404 |NA:AY054405 |NA:AY054406 |NA:BC029795 |NA:M61176 |NA:X60201 |NA:X91251 |NA:none PAC|XP:NP_001700 |XP:NP_733927 |XP:NP_733928 |XP:NP_733929 |XP:NP_733930 |XP:NP_733931 SYM|BDNF NAM|brain-derived neurotrophic factor SYN|MGC34632 FNC|brain-derived neurotrophic factor isoform a preproprotein |brain-derived neurotrophic factor isoform b preproprotein |brain-derived neurotrophic factor isoform c preproprotein |neurogenesis ; GO:0007399 REAB|The protein encoded by this gene is a member of the nerve growth factor family. It |is induced by cortical neurons, and is necessary for survival of striatal neurons |in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington |disease patients. This gene may play a role in the regulation of stress response |and in the biology of mood disorders. Multiple transcript variants encoding distinct |isoforms have been described for this gene, but the full-length nature of only some |could be determined. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439027 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=502183 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=502184 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=523558 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=627[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125916 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_170735 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_170735 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439027 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=502183 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=502184 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=523558 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.439027 |UNIGENE:Hs.502183 |UNIGENE:Hs.502184 |UNIGENE:Hs.523558 |OMIM:113505 |SNP:627 |UWCM:125916.html MAP|11p13 PHP|Central hypoventilation syndrome, congenital |Memory impairment, susceptibility to |Obsessive-compulsive disorder, protection against ENZ|growth factor activity ; GO:0008083 HG|species == rat; score == 459; expect == 6e-130; MEOW:ref|NP_036645.1| (96%) |species == Mouse; gene == Bdnf; score == 458; expect == 1e-129; MEOW:MGgn0000737 (96%) |species == Zfish; gene == bdnf; score == 332; expect == 4.8e-93; MEOW:ZFgn0000842 (69%) |species == Human; gene == NTF3; score == 172; expect == 2.1e-43; MEOW:HUgn0004908 (53%) |species == Human; gene == NTF5; score == 139; expect == 1.1e-33; MEOW:HUgn0004909 (53%) |species == chimp; score == 135; expect == 5.5e-34; MEOW:sp|Q9N2F1|Q9N2F1 (35%) } # EOR GENR { RETE|ID 1 HUgn0000628 CHR 1 6 DID 1 LocusLink:628 MAP 1 6 NAM 1 baboon M7 virus integration site ORG 1 Homo sapiens SYM 1 BEVI ID|HUgn0000628 DID|LocusLink:628 ORG|Homo sapiens SYM|BEVI NAM|baboon M7 virus integration site CHR|6 PRD|Baboon M7 virus replication DBL|OMIM:109180 MAP|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119036 } # EOR GENR { RETE|ID 1 HUgn0000629 CHR 1 6 DID 1 LocusLink:629 MAP 1 6p21.3 NAM 1 B-factor, properdin ORG 1 Homo sapiens SYM 1 BF ID|HUgn0000629 DID|LocusLink:629 ORG|Homo sapiens RSQ|REFSEQ:NM_001710 RPA|REFPROT:NP_001701 DBA|XM:NM_001710 |NA:AF019413 |NA:M15082 |NA:AF349679 |NA:AK130533 |NA:AL701961 |NA:BC004143 |NA:BC007464 |NA:BC007990 |NA:J00126 |NA:J00185 |NA:L15702 |NA:S67310 |NA:X00284 |NA:X72875 |NA:none PAC|XP:NP_001701 SYM|BF NAM|B-factor, properdin SYN|GBG |CFAB |PBF2 FNC|complement factor B preproprotein |proteolysis and peptidolysis ; GO:0006508 |complement activation, alternative pathway ; GO:0006957 REAB|This gene encodes complement factor B, a component of the alternative pathway of |complement activation. Factor B circulates in the blood as a single chain polypeptide. |Upon activation of the alternative pathway, it is cleaved by complement factor D |yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit |Bb is a serine protease which associates with C3b to form the alternative pathway |C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, |while Ba inhibits their proliferation. This gene localizes to the major histocompatibility |complex (MHC) class III region on chromosome 6. This cluster includes several genes |involved in regulation of the immune reaction. The polyadenylation site of this |gene is 421 bp from the 5' end of the gene for complement component 2. CHR|6 PRD|C3 proactivator |C3/C5 convertase |C3 proaccelerator |glycine-rich beta-glycoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=69771 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=629[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119726 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001710 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001710 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=69771 DBL|UNIGENE:Hs.69771 |OMIM:138470 |SNP:629 ENZ|EC:3.4.21.47 |trypsin activity ; GO:0004295 |alternative-complement-pathway C3/C5 convertase activity ; GO:0003812 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|6p21.3 HG|species == chimp; score == 1546; expect == 0.0; MEOW:sp|Q864W0|Q864W0 (98%) |species == rat; score == 1333; expect == 0.0; MEOW:ref|XP_215326.2| (84%) |species == Mouse; gene == H2-Bf; score == 1330; expect == 0.0; MEOW:MGgn0005109 (84%) |species == Human; gene == C2; score == 516; expect == 2e-146; MEOW:HUgn0000717 (39%) |species == Zfish; gene == bf; score == 477; expect == 9e-135; MEOW:ZFgn0000164 (37%) } # EOR GENR { RETE|ID 1 HUgn0000630 CHR 1 X DID 1 LocusLink:630 MAP 1 Xq26-q27.1 NAM 1 Borjeson-Forssman-Lehmann syndrome ORG 1 Homo sapiens SYM 1 BFLS ID|HUgn0000630 DID|LocusLink:630 ORG|Homo sapiens SYM|BFLS NAM|Borjeson-Forssman-Lehmann syndrome SYN|BORJ CHR|X DBL|OMIM:301900 MAP|Xq26-q27.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120566 |http://www.geneclinics.org/query?mim=301900 } # EOR GENR { RETE|ID 1 HUgn0000631 CHR 1 20 DID 1 LocusLink:631 MAP 1 20p11.23-p12.1 NAM 1 beaded filament structural protein 1, filensin ORG 1 Homo sapiens SYM 1 BFSP1 ID|HUgn0000631 DID|LocusLink:631 ORG|Homo sapiens RSQ|REFSEQ:NM_001195 RPA|REFPROT:NP_001186 DBA|XM:NM_001195 |NA:Y16718 |NA:Y16723 |NA:AF039655 |NA:BC041483 |NA:U12622 |NA:Y16717 |NA:none PAC|XP:NP_001186 SYM|BFSP1 NAM|beaded filament structural protein 1, filensin SYN|CP94 |CP115 |LIFL-H |FILENSIN FNC|filensin |RNA processing ; GO:0006396 REAB|More than 99% of the vertebrate ocular lens is comprised of terminally differentiated |lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also |known as phakinin) and the protein product of this gene, filensin (or CP115), are |expressed only after fiber cell differentiation has begun. Both proteins are found |in a structurally unique cytoskeletal element that is referred to as the beaded |filament (BF). CHR|20 PRD|cytoskeletal protein, 115 KD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129702 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=631[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862761 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001195 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001195 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=129702 DBL|UNIGENE:Hs.129702 |OMIM:603307 |SNP:631 MAP|20p11.23-p12.1 ENZ|3'-5' exoribonuclease activity ; GO:0000175 |structural constituent of eye lens ; GO:0005212 |RNA binding ; GO:0003723 |structural constituent of cytoskeleton ; GO:0005200 CEL|intermediate filament ; GO:0005882 |membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == rat; score == 756; expect == 0.0; MEOW:ref|XP_342530.1| (67%) |species == Mouse; gene == Bfsp1; score == 692; expect == 0.0; MEOW:MGgn0000749 (62%) } # EOR GENR { RETE|ID 1 HUgn0000632 CHR 1 1 DID 1 LocusLink:632 MAP 1 1q25-q31 NAM 1 bone gamma-carboxyglutamate (gla) protein (osteocalcin) ORG 1 Homo sapiens SYM 1 BGLAP ID|HUgn0000632 DID|LocusLink:632 ORG|Homo sapiens RSQ|REFSEQ:NM_000711 RPA|REFPROT:NP_000702 DBA|XM:NM_000711 |NA:X04143 |NA:AK022523 |NA:X51699 |NA:X53698 |NA:none PAC|XP:NP_000702 SYM|BGLAP NAM|bone gamma-carboxyglutamate (gla) protein (osteocalcin) SYN|BGP FNC|bone gamma-carboxyglutamate (gla) protein (osteocalcin) |cell adhesion ; GO:0007155 |bone mineralization ; GO:0030282 |odontogenesis ; GO:0042476 |regulation of bone resorption ; GO:0045124 |regulation of osteoclast differentiation ; GO:0045670 CHR|1 PRD|osteocalcin |Bone gamma-carboxyglutamic acid protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512679 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=632[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118760 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000711 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000711 DBL|UNIGENE:Hs.512679 |OMIM:112260 |SNP:632 MAP|1q25-q31 ENZ|structural constituent of bone ; GO:0008147 |calcium ion binding ; GO:0005509 |hydroxyapatite binding ; GO:0046848 CEL|extracellular ; GO:0005576 HG|species == rat; score == 129; expect == 1.9e-31; MEOW:ref|NP_038200.1| (72%) } # EOR GENR { RETE|ID 1 HUgn0000633 CHR 1 X DID 1 LocusLink:633 MAP 1 Xq28 NAM 1 biglycan ORG 1 Homo sapiens SYM 1 BGN ID|HUgn0000633 DID|LocusLink:633 ORG|Homo sapiens RSQ|REFSEQ:NM_001711 RPA|REFPROT:NP_001702 DBA|XM:NM_001711 |NA:M65151 |NA:M65153 |NA:AK092954 |NA:AK093023 |NA:AK094059 |NA:AU142113 |NA:BC002416 |NA:BC004244 |NA:BT007323 |NA:J04599 |NA:U11686 |NA:none PAC|XP:NP_001702 SYM|BGN NAM|biglycan SYN|PGI |DSPG1 |PG-S1 |SLRR1A FNC|biglycan preproprotein REAB|The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan |that is closely related in structure to two other small proteoglycans, decorin and |fibromodulin. The encoded protein and decorin are thought to be the result of a |gene duplication. Decorin contains one attached glycosaminoglycan chain, while this |protein probably contains two chains. For this reason, this protein is called biglycan. |This protein is thought to function in connective tissue metabolism by binding to |collagen fibrils and transfering growth factor-beta. It may promote neuronal survival. |This gene is a candidate gene for the Happle syndrome. CHR|X PRD|bone/cartilage proteoglycan-I |small leucine-rich protein 1A |dermatan sulphate proteoglycan I URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=821 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=633[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119727 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001711 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001711 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=821 DBL|UNIGENE:Hs.821 |OMIM:301870 |SNP:633 MAP|Xq28 HG|species == Mouse; gene == Bgn; score == 719; expect == 0.0; MEOW:MGgn0000785 (95%) |species == rat; score == 718; expect == 0.0; MEOW:ref|NP_058783.1| (95%) |species == Human; gene == ASPN; score == 399; expect == 1e-111; MEOW:HUgn0054829 (52%) |species == Human; gene == DCN; score == 397; expect == 5e-111; MEOW:HUgn0001634 (55%) |species == Zfish; gene == dcn; score == 238; expect == 2.1e-64; MEOW:ZFgn0002008 (54%) } # EOR GENR { RETE|ID 1 HUgn0000634 CHR 1 19 DID 1 LocusLink:634 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) ORG 1 Homo sapiens SYM 1 CEACAM1 ID|HUgn0000634 DID|LocusLink:634 ORG|Homo sapiens RSQ|REFSEQ:NM_001712 RPA|REFPROT:NP_001703 DBA|XM:NM_001712 |NA:AC004785 |NA:AL833584 |NA:BC014473 |NA:BC024164 |NA:D12502 |NA:D90311 |NA:D90312 |NA:D90313 |NA:J03858 |NA:M69176 |NA:M72238 |NA:M76742 |NA:S71326 |NA:X14831 |NA:X16354 |NA:X16356 PAC|XP:NP_001703 SYM|CEACAM1 NAM|carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) SYN|BGP |BGP1 |BGPI |CD66 |CD66A |CD66a FNC|carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) |immune response ; GO:0006955 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512682 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=634[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001712 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001712 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=512682 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.512682 |OMIM:109770 |SNP:634 |PROW:2122947478 MAP|19q13.2 PHP|Biliary glycoprotein I; plays a role in cell adhesion; member of carcinoembryonic antigen group of immunoglobulin superfamily ENZ|tumor antigen ; GO:0008222 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Human; gene == CEACAM5; score == 609; expect == 2e-174; MEOW:HUgn0001048 (73%) |species == Human; gene == CEACAM6; score == 547; expect == 3e-156; MEOW:HUgn0004680 (84%) |species == Human; gene == CEACAM8; score == 516; expect == 5e-147; MEOW:HUgn0001088 (76%) |species == rat; score == 436; expect == 1e-122; MEOW:ref|NP_113943.1| (54%) |species == Mouse; gene == Ceacam1; score == 218; expect == 3.3e-57; MEOW:MGgn0001284 (47%) |species == Mouse; gene == Ceacam2; score == 196; expect == 1.8e-50; MEOW:MGgn0001286 (41%) } # EOR GENR { RETE|ID 1 HUgn0000635 CHR 1 5 DID 1 LocusLink:635 MAP 1 5q13.1-q15 NAM 1 betaine-homocysteine methyltransferase ORG 1 Homo sapiens SYM 1 BHMT ID|HUgn0000635 DID|LocusLink:635 ORG|Homo sapiens RSQ|REFSEQ:NM_001713 RPA|REFPROT:NP_001704 DBA|XM:NM_001713 |NA:AF118371 |NA:AF118372 |NA:AF118373 |NA:AF118374 |NA:AF118375 |NA:AF118376 |NA:AF118377 |NA:AF118378 |NA:BC012616 |NA:U50929 |NA:none PAC|XP:NP_001704 SYM|BHMT NAM|betaine-homocysteine methyltransferase FNC|betaine-homocysteine methyltransferase REAB|Betaine-homocysteine methyltransferase is a cytosolic enzyme that catalyzes the conversion |of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects |in BHMT could lead to hyperhomocyst(e)inemia,but such a defect has not yet been |observed. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80756 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=635[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5892185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001713 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001713 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80756 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.80756 |OMIM:602888 |SNP:635 ENZ|EC:2.1.1.5 |homocysteine S-methyltransferase activity ; GO:0008898 |methyltransferase activity ; GO:0008168 |transferase activity ; GO:0016740 |betaine-homocysteine S-methyltransferase activity ; GO:0047150 MAP|5q13.1-q15 HG|species == Mouse; gene == Bhmt; score == 793; expect == 0.0; MEOW:MGgn0000788 (94%) |species == rat; score == 779; expect == 0.0; MEOW:ref|NP_110477.1| (92%) |species == Human; gene == BHMT2; score == 584; expect == 3e-167; MEOW:HUgn0023743 (76%) } # EOR GENR { RETE|ID 1 HUgn0000636 CHR 1 12 DID 1 LocusLink:636 MAP 1 12p11.2-p11.1 NAM 1 Bicaudal D homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 BICD1 ID|HUgn0000636 DID|LocusLink:636 ORG|Homo sapiens RSQ|REFSEQ:NM_001714 RPA|REFPROT:NP_001705 DBA|XM:NM_001714 |NA:BC010091 |NA:U90028 |NA:U90030 |NA:none PAC|XP:NP_001705 SYM|BICD1 NAM|Bicaudal D homolog 1 (Drosophila) FNC|Bicaudal D homolog 1 CHR|12 PRD|Bicaudal-D, Drosophila, homolog of, 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412020 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=636[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5912682 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001714 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001714 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=412020 DBL|UNIGENE:Hs.412020 |OMIM:602204 |SNP:636 MAP|12p11.2-p11.1 CEL|Golgi apparatus ; GO:0005794 HG|species == Human; gene == BICD2; score == 941; expect == 0.0; MEOW:HUgn0023299 (65%) |species == Mouse; gene == Bicd2; score == 929; expect == 0.0; MEOW:MGgn0015377 (64%) |species == rat; score == 909; expect == 0.0; MEOW:ref|XP_225202.2| (61%) |species == Fruitfly; gene == BicD; score == 484; expect == 8e-137; MEOW:FBgn0000183 (38%) |species == Mosquito; score == 466; expect == 2e-131; MEOW:AGgn0027554 (37%) |species == Mosquito; score == 457; expect == 9e-129; MEOW:AGgn0012196 (37%) |species == Worm; gene == C43G2.2; score == 199; expect == 5.7e-51; MEOW:CEgn0006415 (26%) } # EOR GENR { RETE|ID 1 HUgn0000637 CHR 1 22 DID 1 LocusLink:637 MAP 1 22q11.1 NAM 1 BH3 interacting domain death agonist ORG 1 Homo sapiens SYM 1 BID ID|HUgn0000637 DID|LocusLink:637 ORG|Homo sapiens RSQ|REFSEQ:NM_001196 |REFSEQ:NM_197966 |REFSEQ:NM_197967 RPA|REFPROT:NP_001187 |REFPROT:NP_932070 |REFPROT:NP_932071 DBA|XM:NM_001196 |NA:AF042083 |NA:AF087891 |NA:AK094795 |NA:AY005151 |NA:BC009197 |NA:BC022072 |NA:BC033634 |NA:BC036364 |NA:BM842561 |NA:BQ068464 |NA:none PAC|XP:NP_001187 SYM|BID NAM|BH3 interacting domain death agonist SYN|MGC15319 |MGC42355 FNC|BH3 interacting domain death agonist isoform 1 |BH3 interacting domain death agonist isoform 2 |BH3 interacting domain death agonist isoform 3 |apoptotic mitochondrial changes ; GO:0008637 |induction of apoptosis via death domain receptors ; GO:0008625 |apoptosis ; GO:0006915 REAB|This gene encodes a death agonist that heterodimerizes with either agonist BAX or |antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death |regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); |CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria |where it triggers cytochrome c release. Multiple alternatively spliced transcript |variants have been found, but the full-length nature of some variants has not been |defined. CHR|22 PRD|apoptic death agonist |BH3-interacting domain death agonist URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300825 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=637[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837249 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_197966 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_197966 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=300825 DBL|UNIGENE:Hs.300825 |OMIM:601997 |SNP:637 MAP|22q11.1 ENZ|death receptor binding ; GO:0005123 |apoptosis regulator activity ; GO:0016329 CEL|cytosol ; GO:0005829 |mitochondrion ; GO:0005739 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Bid; score == 226; expect == 5.9e-60; MEOW:MGgn0000795 (64%) |species == rat; score == 220; expect == 3.3e-58; MEOW:ref|NP_073175.1| (61%) } # EOR GENR { RETE|ID 1 HUgn0000638 CHR 1 22 DID 1 LocusLink:638 MAP 1 22q13.31 NAM 1 BCL2-interacting killer (apoptosis-inducing) ORG 1 Homo sapiens SYM 1 BIK ID|HUgn0000638 DID|LocusLink:638 ORG|Homo sapiens RSQ|REFSEQ:NM_001197 RPA|REFPROT:NP_001188 DBA|XM:NM_001197 |NA:AF174424 |NA:BC001599 |NA:BM765910 |NA:U34584 |NA:U49730 |NA:none PAC|XP:NP_001188 SYM|BIK NAM|BCL2-interacting killer (apoptosis-inducing) SYN|BP4 |NBK |BBC1 |BIP1 FNC|BCL2-interacting killer |apoptotic program ; GO:0008632 |induction of apoptosis ; GO:0006917 REAB|The protein encoded by this gene is known to interact with cellular and viral survival-promoting |proteins, such as BCL2 and the Epstein-Barr virus in order to enhance programed |cell death. Because its activity is suppressed in the presence of survival-promoting |proteins, this protein is suggested as a likely target for antiapoptotic proteins. | This protein shares a critical BH3 domain with other death-promoting proteins, |BAX and BAK. CHR|22 PRD|apoptosis-inducing NBK URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155419 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=638[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4048917 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001197 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001197 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155419 DBL|UNIGENE:Hs.155419 |OMIM:603392 |SNP:638 MAP|22q13.31 CEL|integral to membrane ; GO:0016021 ENZ|apoptosis regulator activity ; GO:0016329 } # EOR GENR { RETE|ID 1 HUgn0000639 CHR 1 6 DID 1 LocusLink:639 MAP 1 6q21-q22.1 NAM 1 PR domain containing 1, with ZNF domain ORG 1 Homo sapiens SYM 1 PRDM1 ID|HUgn0000639 DID|LocusLink:639 ORG|Homo sapiens RSQ|REFSEQ:NM_001198 |REFSEQ:NM_182907 RPA|REFPROT:NP_001189 |REFPROT:NP_878911 DBA|XM:NM_001198 |NA:AF084199 |NA:AL832963 |NA:AY198414 |NA:AY198415 |NA:none PAC|XP:NP_001189 SYM|PRDM1 NAM|PR domain containing 1, with ZNF domain SYN|BLIMP1 |PRDI-BF1 FNC|PR domain containing 1, with ZNF domain isoform 1 |PR domain containing 1, with ZNF domain isoform 2 REAB|This gene encodes a protein that acts as a repressor of beta-interferon gene expression. |The protein binds specifically to the PRDI (positive regulatory domain I element) |of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. |Two alternatively spliced transcript variants that encode different isoforms have |been reported. CHR|6 PRD|PRDI-binding factor-1 |PR-domain zinc finger protein 1 |B-lymphocyte-induced maturation protein 1 |positive regulatory domain I-binding factor 1 |beta-interferon gene positive-regulatory domain I binding factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381140 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=639[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:385053 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001198 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001198 DBL|UNIGENE:Hs.381140 |OMIM:603423 |SNP:639 MAP|6q21-q22.1 HG|species == rat; score == 1380; expect == 0.0; MEOW:ref|XP_228320.2| (83%) |species == Mouse; gene == Prdm1; score == 1378; expect == 0.0; MEOW:MGgn0000815 (88%) |species == Mosquito; gene == LOC2585; score == 259; expect == 2.3e-69; MEOW:AGgn0002585 (73%) |species == Fruitfly; gene == CG5249; score == 259; expect == 3.2e-69; MEOW:FBgn0035625 (72%) |species == Worm; gene == odd-3; score == 229; expect == 3.1e-60; MEOW:CEgn0009245 (56%) |species == Human; gene == MGC33414; score == 221; expect == 5.7e-58; MEOW:HUgn0257101 (48%) |species == chimp; score == 137; expect == 3.1e-34; MEOW:sp|Q95236|Q95236 (40%) |species == Zfish; gene == fezl; score == 132; expect == 2.9e-32; MEOW:ZFgn0001940 (39%) } # EOR GENR { RETE|ID 1 HUgn0000640 CHR 1 8 DID 1 LocusLink:640 MAP 1 8p23-p22 NAM 1 B lymphoid tyrosine kinase ORG 1 Homo sapiens SYM 1 BLK ID|HUgn0000640 DID|LocusLink:640 ORG|Homo sapiens RSQ|REFSEQ:NM_001715 RPA|REFPROT:NP_001706 DBA|XM:NM_001715 |NA:AL832875 |NA:BC004473 |NA:BC007371 |NA:BC018703 |NA:BC032413 |NA:BC038555 |NA:BQ057058 |NA:S76617 |NA:Z33998 |NA:none PAC|XP:NP_001706 SYM|BLK NAM|B lymphoid tyrosine kinase SYN|MGC10442 FNC|B lymphoid tyrosine kinase |protein kinase cascade ; GO:0007243 |protein amino acid phosphorylation ; GO:0006468 CHR|8 PRD|BLK nonreceptor tyrosine kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389900 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=640[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:454114 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001715 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001715 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=389900 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25368 DBL|UNIGENE:Hs.389900 |OMIM:191305 |SNP:640 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|8p23-p22 HG|species == Mouse; gene == Blk; score == 894; expect == 0.0; MEOW:MGgn0000816 (85%) |species == rat; score == 891; expect == 0.0; MEOW:ref|XP_344420.1| (88%) |species == Human; gene == HCK; score == 651; expect == 0.0; MEOW:HUgn0003055 (67%) |species == Human; gene == LCK; score == 633; expect == 0.0; MEOW:HUgn0003932 (64%) |species == Human; gene == LYN; score == 633; expect == 0.0; MEOW:HUgn0004067 (60%) |species == Human; gene == FYN; score == 569; expect == 1e-162; MEOW:HUgn0002534 (63%) |species == Human; gene == YES1; score == 557; expect == 7e-159; MEOW:HUgn0007525 (62%) |species == Human; gene == SRC; score == 552; expect == 1e-157; MEOW:HUgn0006714 (62%) |species == Human; gene == FGR; score == 543; expect == 7e-155; MEOW:HUgn0002268 (60%) |species == Mosquito; score == 501; expect == 2e-142; MEOW:AGgn0005994 (54%) |species == Mosquito; score == 461; expect == 2e-130; MEOW:AGgn0010020 (52%) |species == Fruitfly; gene == Src64B; score == 456; expect == 6e-129; MEOW:FBgn0003501 (51%) |species == Worm; gene == src-2; score == 447; expect == 6e-126; MEOW:CEgn0026958 (48%) |species == Zfish; gene == itk; score == 311; expect == 2.8e-86; MEOW:ZFgn0000238 (39%) |species == Weed; gene == At2g17700; score == 154; expect == 1.5e-37; MEOW:ATgn0028393 (34%) |species == rice; score == 152; expect == 1.2e-36; MEOW:gnl|TIGR|8355.m02702 (34%) |species == rice; score == 148; expect == 1.3e-35; MEOW:gnl|TIGR|8357.m03093 (34%) |species == chimp; score == 147; expect == 2.5e-37; MEOW:sp|BAC78172|BAC78172 (34%) |species == Weed; gene == At2g24360; score == 144; expect == 8.8e-35; MEOW:ATgn0008622 (34%) |species == Weed; gene == At4g35780; score == 143; expect == 2.6e-34; MEOW:ATgn0017130 (33%) |species == Weed; gene == At4g31170; score == 143; expect == 2.6e-34; MEOW:ATgn0018674 (34%) |species == rice; score == 143; expect == 5.7e-34; MEOW:gnl|TIGR|8352.m05524 (35%) |species == Weed; gene == At1g62400; score == 141; expect == 9.8e-34; MEOW:ATgn0006564 (32%) |species == Weed; gene == At4g38470; score == 139; expect == 2.8e-33; MEOW:ATgn0020261 (33%) |species == rice; score == 139; expect == 6.3e-33; MEOW:gnl|TIGR|8359.m00564 (30%) |species == rice; score == 137; expect == 3.1e-32; MEOW:gnl|TIGR|8354.m04232 (32%) |species == rice; score == 137; expect == 2.4e-32; MEOW:gnl|TIGR|8356.m01204 (32%) |species == rice; score == 136; expect == 9.0e-32; MEOW:gnl|TIGR|8350.m00074 (30%) |species == rice; score == 135; expect == 1.5e-31; MEOW:gnl|TIGR|8352.m04814 (32%) |species == rice; score == 134; expect == 2.0e-31; MEOW:gnl|TIGR|8351.m00694 (32%) |species == Weed; gene == At1g67890; score == 133; expect == 2.0e-31; MEOW:ATgn0006424 (33%) |species == Weed; gene == At5g49470; score == 132; expect == 5.9e-31; MEOW:ATgn0022825 (31%) |species == Weed; gene == At5g03730; score == 131; expect == 7.7e-31; MEOW:ATgn0024018 (32%) } # EOR GENR { RETE|ID 1 HUgn0000641 CHR 1 15 DID 1 LocusLink:641 MAP 1 15q26.1 NAM 1 Bloom syndrome ORG 1 Homo sapiens SYM 1 BLM ID|HUgn0000641 DID|LocusLink:641 ORG|Homo sapiens RSQ|REFSEQ:NM_000057 RPA|REFPROT:NP_000048 DBA|XM:NM_000057 |NA:BC034480 |NA:U39817 |NA:none PAC|XP:NP_000048 SYM|BLM NAM|Bloom syndrome SYN|BS |RECQ2 |RECQL2 |RECQL3 FNC|Bloom syndrome protein |DNA replication ; GO:0006260 |DNA repair ; GO:0006281 |DNA recombination ; GO:0006310 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing |DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase |activities. Mutations causing Bloom syndrome delete or alter helicase motifs and |may disable the 3'-5' helicase activity. The normal protein may act to suppress |inappropriate recombination. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=383913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=641[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135698 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000057 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000057 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=383913 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.383913 |OMIM:604610 |SNP:641 |UWCM:135698.html MAP|15q26.1 PHP|Bloom syndrome ENZ|ATP dependent DNA helicase activity ; GO:0004003 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Blm; score == 1872; expect == 0.0; MEOW:MGgn0000817 (75%) |species == rat; score == 1715; expect == 0.0; MEOW:ref|XP_218837.2| (70%) |species == Fruitfly; gene == mus309; score == 564; expect == 2e-160; MEOW:FBgn0002906 (38%) |species == Mosquito; score == 531; expect == 3e-151; MEOW:AGgn0010973 (51%) |species == Worm; gene == him-6; score == 456; expect == 3e-128; MEOW:CEgn0000862 (40%) |species == Weed; gene == At1g10930; score == 427; expect == 2e-119; MEOW:ATgn0006012 (38%) |species == Yeast; gene == SGS1; score == 412; expect == 6e-115; MEOW:SGgn0004802 (39%) |species == Weed; gene == At1g60930; score == 372; expect == 8e-103; MEOW:ATgn0005576 (37%) |species == Human; gene == RECQL; score == 369; expect == 2e-102; MEOW:HUgn0005965 (37%) |species == Weed; gene == At3g05740; score == 360; expect == 1.3e-99; MEOW:ATgn0016018 (49%) |species == rice; score == 359; expect == 2.1e-99; MEOW:gnl|TIGR|8358.m03657 (45%) |species == Weed; gene == At1g31360; score == 358; expect == 5.8e-99; MEOW:ATgn0000506 (38%) |species == ecoli; score == 312; expect == 3.1e-85; MEOW:ref|NP_418266.1| (34%) |species == rice; score == 295; expect == 5.0e-80; MEOW:gnl|TIGR|8358.m03947 (32%) } # EOR GENR { RETE|ID 1 HUgn0000642 CHR 1 17 DID 1 LocusLink:642 MAP 1 17q11.2 NAM 1 bleomycin hydrolase ORG 1 Homo sapiens SYM 1 BLMH ID|HUgn0000642 DID|LocusLink:642 ORG|Homo sapiens RSQ|REFSEQ:NM_000386 RPA|REFPROT:NP_000377 DBA|XM:NM_000386 |NA:BC003616 |NA:BC004486 |NA:BG471412 |NA:BT007018 |NA:X92106 |NA:none PAC|XP:NP_000377 SYM|BLMH NAM|bleomycin hydrolase SYN|BH |BMH FNC|bleomycin hydrolase |proteolysis and peptidolysis ; GO:0006508 REAB|Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved |through evolution; however, the only known activity of the enzyme is metabolic inactivation |of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy |regimens for cancer. The protein contains the signature active site residues of |the cysteine protease papain superfamily. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387183 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=642[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3801467 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000386 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000386 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=387183 DBL|UNIGENE:Hs.387183 |OMIM:602403 |SNP:642 MAP|17q11.2 PHP|Alzheimer disease, susceptibility to ENZ|bleomycin hydrolase activity ; GO:0008423 |aminopeptidase activity ; GO:0004177 |carboxypeptidase activity ; GO:0004180 |hydrolase activity ; GO:0016787 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 908; expect == 0.0; MEOW:ref|XP_213406.2| (93%) |species == Mouse; gene == Blmh; score == 904; expect == 0.0; MEOW:MGgn0000818 (93%) |species == Mosquito; gene == LOC22498; score == 535; expect == 9e-153; MEOW:AGgn0022498 (55%) |species == Fruitfly; gene == CG1440; score == 535; expect == 2e-152; MEOW:FBgn0030038 (57%) |species == Mosquito; gene == LOC16829; score == 532; expect == 1e-151; MEOW:AGgn0016829 (56%) |species == Yeast; gene == LAP3; score == 317; expect == 1.1e-86; MEOW:SGgn0005183 (39%) } # EOR GENR { RETE|ID 1 HUgn0000643 CHR 1 11 DID 1 LocusLink:643 MAP 1 11q23.3 NAM 1 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) ORG 1 Homo sapiens SYM 1 BLR1 ID|HUgn0000643 DID|LocusLink:643 ORG|Homo sapiens RSQ|REFSEQ:NM_001716 |REFSEQ:NM_032966 RPA|REFPROT:NP_001707 |REFPROT:NP_116743 DBA|XM:NM_001716 |XM:NM_032966 |NA:X68149 |NA:X68829 |NA:none PAC|XP:NP_001707 |XP:NP_116743 SYM|BLR1 NAM|Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) SYN|CXCR5 |MDR15 FNC|Burkitt lymphoma receptor 1 isoform 1 |Burkitt lymphoma receptor 1 isoform 2 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |cell motility ; GO:0006928 |B-cell activation ; GO:0042113 REAB|This gene was identified as a gene specifically expressed in Burkitt's lymphoma and |lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane |G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, |a B-lymphocyte chemoattractant, was identified to be a specific ligand for this |receptor. Studies of this gene and its mouse conterpart strongly suggest the essential |function of this gene in B cell migration and localization within specific anatomic |compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively |spliced variants of this gene exist. CHR|11 PRD|monocyte-derived receptor 15 |C-X-C chemokine receptor type 5 |Burkitt lymphoma receptor 1, GTP-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113916 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=643[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136235 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032966 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032966 DBL|UNIGENE:Hs.113916 |OMIM:601613 |SNP:643 MAP|11q23.3 ENZ|angiotensin type II receptor activity ; GO:0004945 |C-X-C chemokine receptor activity ; GO:0016494 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Blr1; score == 597; expect == 4e-171; MEOW:MGgn0000819 (82%) |species == rat; score == 579; expect == 7e-166; MEOW:ref|NP_445755.1| (81%) |species == Human; gene == CXCR3; score == 208; expect == 4.4e-54; MEOW:HUgn0002833 (41%) |species == Human; gene == CXCR4; score == 208; expect == 5.4e-54; MEOW:HUgn0007852 (35%) |species == chimp; score == 208; expect == 5.4e-54; MEOW:sp|P30991|CCR4_HUMAN (35%) |species == Human; gene == CCR7; score == 194; expect == 6.7e-50; MEOW:HUgn0001236 (37%) |species == Human; gene == IL8RB; score == 193; expect == 1.5e-49; MEOW:HUgn0003579 (38%) |species == chimp; score == 193; expect == 2.8e-51; MEOW:sp|Q8HZN8|Q8HZN8 (38%) |species == chimp; score == 191; expect == 8.1e-51; MEOW:sp|Q28807|IL8B_PANTR (39%) |species == Zfish; gene == cxcr4b; score == 186; expect == 2.2e-47; MEOW:ZFgn0002126 (35%) |species == Zfish; gene == cxcr4a; score == 179; expect == 2.1e-45; MEOW:ZFgn0002418 (36%) |species == Human; gene == IL8RA; score == 177; expect == 6.4e-45; MEOW:HUgn0003577 (39%) |species == chimp; score == 177; expect == 1.2e-46; MEOW:sp|P55920|IL8A_PANTR (39%) } # EOR GENR { RETE|ID 1 HUgn0000644 CHR 1 7 DID 1 LocusLink:644 MAP 1 7p14-cen NAM 1 biliverdin reductase A ORG 1 Homo sapiens SYM 1 BLVRA ID|HUgn0000644 DID|LocusLink:644 ORG|Homo sapiens RSQ|REFSEQ:NM_000712 RPA|REFPROT:NP_000703 DBA|XM:NM_000712 |XM:NM_000712 |NA:BC005902 |NA:BC008456 |NA:U34877 |NA:X93086 |NA:none PAC|XP:NP_000703 |XP:NP_000703 SYM|BLVRA NAM|biliverdin reductase A SYN|BLVR |BVRA FNC|biliverdin reductase A |electron transport ; GO:0006118 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435726 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=644[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119037 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000712 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000712 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435726 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.435726 |OMIM:109750 |SNP:644 ENZ|EC:1.3.1.24 |biliverdin reductase activity ; GO:0004074 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|7p14-cen HG|species == Mouse; gene == Blvra; score == 411; expect == 2e-115; MEOW:MGgn0000820 (82%) |species == rat; score == 410; expect == 6e-115; MEOW:ref|NP_446302.1| (82%) } # EOR GENR { RETE|ID 1 HUgn0000645 CHR 1 19 DID 1 LocusLink:645 MAP 1 19q13.1-q13.2 NAM 1 biliverdin reductase B (flavin reductase (NADPH)) ORG 1 Homo sapiens SYM 1 BLVRB ID|HUgn0000645 DID|LocusLink:645 ORG|Homo sapiens RSQ|REFSEQ:NM_000713 RPA|REFPROT:NP_000704 DBA|XM:NM_000713 |NA:D26308 |NA:D32143 |NA:none PAC|XP:NP_000704 SYM|BLVRB NAM|biliverdin reductase B (flavin reductase (NADPH)) SYN|FLR |BVRB FNC|biliverdin reductase B (flavin reductase (NADPH)) CHR|19 PRD|Biliverdin reductase B |flavin reductase (NADPH) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76289 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=645[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:547788 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000713 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000713 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.76289 |OMIM:600941 |SNP:645 ENZ|EC:1.3.1.24 |biliverdin reductase activity ; GO:0004074 |oxidoreductase activity ; GO:0016491 |flavin reductase activity ; GO:0042602 MAP|19q13.1-q13.2 HG|species == Mouse; gene == Blvrb; score == 367; expect == 3e-102; MEOW:MGgn0042742 (93%) |species == rat; score == 366; expect == 5e-102; MEOW:ref|XP_214823.2| (94%) |species == rat; score == 309; expect == 7.5e-85; MEOW:ref|XP_226012.2| (81%) |species == Mosquito; score == 158; expect == 1.6e-39; MEOW:AGgn0020911 (43%) |species == Fruitfly; gene == CG9471; score == 132; expect == 1.3e-31; MEOW:FBgn0037749 (38%) } # EOR GENR { RETE|ID 1 HUgn0000646 CHR 1 15 DID 1 LocusLink:646 MAP 1 15q25.1 NAM 1 basonuclin ORG 1 Homo sapiens SYM 1 BNC ID|HUgn0000646 DID|LocusLink:646 ORG|Homo sapiens RSQ|REFSEQ:NM_001717 RPA|REFPROT:NP_001708 DBA|XM:NM_001717 |NA:U59692 |NA:U59693 |NA:U59694 |NA:L03427 |NA:none PAC|XP:NP_001708 SYM|BNC NAM|basonuclin FNC|basonuclin |epidermal differentiation ; GO:0008544 |positive regulation of cell proliferation ; GO:0008284 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The protein encoded by this gene is a zinc finger protein present in the basal cell |layer of the epidermis and in hair follicles. It is also found in abundance in the |germ cells of testis and ovary. This protein is thought to play a regulatory role |in keratinocyte proliferation and it may also be a regulator for rRNA transcription. |This gene seems to have multiple alternatively spliced transcript variants, but |their full-length nature is not known yet. There seems to be evidence of multiple |polyadenylation sites for this gene. CHR|15 PRD|zinc finger protein basonuclin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=64025 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=646[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6932210 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001717 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001717 DBL|UNIGENE:Hs.64025 |OMIM:601930 |SNP:646 MAP|15q25.1 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1147; expect == 0.0; MEOW:ref|XP_344918.1| (83%) |species == Mouse; gene == 5031434M05Rik; score == 708; expect == 0.0; MEOW:MGgn0040880 (44%) |species == Human; gene == FLJ20043; score == 208; expect == 1.1e-53; MEOW:HUgn0054796 (48%) } # EOR GENR { RETE|ID 1 HUgn0000648 CHR 1 10 DID 1 LocusLink:648 MAP 1 10p11.23 NAM 1 B lymphoma Mo-MLV insertion region (mouse) ORG 1 Homo sapiens SYM 1 BMI1 ID|HUgn0000648 DID|LocusLink:648 ORG|Homo sapiens RSQ|REFSEQ:NM_005180 RPA|REFPROT:NP_005171 DBA|XM:NM_005180 |NA:BC011652 |NA:L13689 |NA:S62198 |NA:none PAC|XP:NP_005171 SYM|BMI1 NAM|B lymphoma Mo-MLV insertion region (mouse) SYN|RNF51 |MGC12685 FNC|B lymphoma Mo-MLV insertion region |segment specification ; GO:0007379 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |chromatin modification ; GO:0016568 CHR|10 PRD|oncogene BMI-1 |murine leukemia viral (bmi-1) oncogene homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380403 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=648[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:249556 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005180 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005180 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380403 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25376 DBL|UNIGENE:Hs.380403 |OMIM:164831 |SNP:648 MAP|10p11.23 CEL|nucleus ; GO:0005634 HG|species == rat; score == 568; expect == 1e-162; MEOW:ref|XP_225606.2| (93%) |species == Mouse; gene == Bmi1; score == 471; expect == 2e-133; MEOW:MGgn0000829 (97%) |species == Human; gene == RNF110; score == 395; expect == 2e-110; MEOW:HUgn0007703 (62%) |species == Mouse; gene == Zfp144; score == 394; expect == 2e-110; MEOW:MGgn0013179 (62%) |species == Fruitfly; gene == Psc; score == 195; expect == 1.5e-50; MEOW:FBgn0005624 (44%) |species == Mosquito; gene == LOC21884; score == 161; expect == 2.9e-40; MEOW:AGgn0021884 (39%) |species == Fruitfly; gene == l(3)73Ah; score == 158; expect == 2.5e-39; MEOW:FBgn0002283 (39%) } # EOR GENR { RETE|ID 1 HUgn0000649 CHR 1 8 DID 1 LocusLink:649 MAP 1 8p21 NAM 1 bone morphogenetic protein 1 ORG 1 Homo sapiens SYM 1 BMP1 ID|HUgn0000649 DID|LocusLink:649 ORG|Homo sapiens RSQ|REFSEQ:NM_001199 |REFSEQ:NM_006128 |REFSEQ:NM_006129 |REFSEQ:NM_006130 |REFSEQ:NM_006131 |REFSEQ:NM_006132 RPA|REFPROT:NP_001190 |REFPROT:NP_006119 |REFPROT:NP_006120 |REFPROT:NP_006121 |REFPROT:NP_006122 |REFPROT:NP_006123 DBA|XM:NM_001199 |XM:NM_006128 |XM:NM_006129 |XM:NM_006130 |XM:NM_006131 |XM:NM_006132 |NA:BC002593 |NA:BC009305 |NA:BC032105 |NA:BC044626 |NA:L35278 |NA:L35279 |NA:M22488 |NA:U50330 |NA:Y08723 |NA:Y08724 |NA:Y08725 |NA:none PAC|XP:NP_001190 |XP:NP_006119 |XP:NP_006120 |XP:NP_006121 |XP:NP_006122 |XP:NP_006123 SYM|BMP1 NAM|bone morphogenetic protein 1 SYN|TLD FNC|bone morphogenetic protein 1 isoform 1, precursor |bone morphogenetic protein 1 isoform 2, precursor |bone morphogenetic protein 1 isoform 3, precursor |bone morphogenetic protein 1 isoform 4, precursor |bone morphogenetic protein 1 isoform 5, precursor |bone morphogenetic protein 1 isoform 6 precursor |cartilage condensation ; GO:0001502 |proteolysis and peptidolysis ; GO:0006508 |development ; GO:0007275 REAB|The BMP1 locus encodes a protein that is capable of inducing formation of cartilage |in vivo. Although other bone morphogenetic proteins are members of the TGF-beta |superfamily, BMP1 encodes a protein that is not closely related to other known growth |factors. BMP1 protein and procollagen C proteinase (PCP), a secreted metalloprotease |requiring calcium and needed for cartilage and bone formation, are identical. PCP |or BMP1 protein cleaves the C-terminal propeptides of procollagen I, II, and III |and its activity is increased by the procollagen C-endopeptidase enhancer protein. | The BMP1 gene is expressed as alternatively spliced variants that share an N-terminal |protease domain but differ in their C-terminal region CHR|8 PRD|PCP URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1274 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=649[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125203 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006129 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006129 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1274 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25377 DBL|UNIGENE:Hs.1274 |OMIM:112264 |SNP:649 ENZ|EC:3.4.24.19 |cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 |metallopeptidase activity ; GO:0008237 |zinc ion binding ; GO:0008270 |calcium ion binding ; GO:0005509 |astacin activity ; GO:0008533 |procollagen C-endopeptidase activity ; GO:0017026 MAP|8p21 CEL|extracellular ; GO:0005576 HG|species == Human; gene == TLL1; score == 1120; expect == 0.0; MEOW:HUgn0007092 (71%) |species == Human; gene == TLL2; score == 1120; expect == 0.0; MEOW:HUgn0007093 (73%) |species == Mouse; gene == Tll; score == 1110; expect == 0.0; MEOW:MGgn0012368 (70%) |species == Zfish; gene == bmp1; score == 1102; expect == 0.0; MEOW:ZFgn0000445 (70%) |species == Mouse; gene == Tll2; score == 1097; expect == 0.0; MEOW:MGgn0012369 (74%) |species == rat; score == 977; expect == 0.0; MEOW:ref|XP_224784.2| (64%) |species == Mosquito; score == 684; expect == 0.0; MEOW:AGgn0021251 (55%) |species == Fruitfly; gene == tok; score == 659; expect == 0.0; MEOW:FBgn0004885 (53%) |species == Fruitfly; gene == tld; score == 554; expect == 4e-158; MEOW:FBgn0003719 (45%) } # EOR GENR { RETE|ID 1 HUgn0000650 CHR 1 20 DID 1 LocusLink:650 MAP 1 20p12 NAM 1 bone morphogenetic protein 2 ORG 1 Homo sapiens SYM 1 BMP2 ID|HUgn0000650 DID|LocusLink:650 ORG|Homo sapiens RSQ|REFSEQ:NM_001200 RPA|REFPROT:NP_001191 DBA|XM:NM_001200 |NA:M22489 |NA:none PAC|XP:NP_001191 SYM|BMP2 NAM|bone morphogenetic protein 2 SYN|BMP2A FNC|bone morphogenetic protein 2 precursor |cell growth and/or maintenance ; GO:0008151 |skeletal development ; GO:0001501 |cell-cell signaling ; GO:0007267 |growth ; GO:0040007 REAB|BMP2 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic |protein induces bone formation. BMP2 is a candidate gene for the autosomal dominant |disease of fibrodysplasia (myositis) ossificans progressiva. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73853 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=650[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125204 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001200 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001200 DBL|UNIGENE:Hs.73853 |OMIM:112261 |SNP:650 MAP|20p12 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 HG|species == rat; score == 713; expect == 0.0; MEOW:ref|NP_058874.1| (91%) |species == Mouse; gene == Bmp2; score == 699; expect == 0.0; MEOW:MGgn0000834 (91%) |species == Zfish; gene == bmp2a; score == 486; expect == 6e-139; MEOW:ZFgn0000121 (65%) |species == Human; gene == BMP4; score == 468; expect == 2e-132; MEOW:HUgn0000652 (62%) |species == Zfish; gene == bmp2b; score == 448; expect == 1e-127; MEOW:ZFgn0000157 (61%) |species == Zfish; gene == bmp4; score == 444; expect == 3e-125; MEOW:ZFgn0000209 (58%) |species == Mosquito; gene == LOC12367; score == 286; expect == 7.8e-78; MEOW:AGgn0012367 (44%) |species == Mosquito; score == 285; expect == 1.7e-77; MEOW:AGgn0029252 (46%) |species == Fruitfly; gene == dpp; score == 278; expect == 2.9e-75; MEOW:FBgn0000490 (41%) |species == Worm; gene == dbl-1; score == 142; expect == 1.7e-34; MEOW:CEgn0000376 (29%) } # EOR GENR { RETE|ID 1 HUgn0000651 CHR 1 4 DID 1 LocusLink:651 MAP 1 4p14-q21 NAM 1 bone morphogenetic protein 3 (osteogenic) ORG 1 Homo sapiens SYM 1 BMP3 ID|HUgn0000651 DID|LocusLink:651 ORG|Homo sapiens RSQ|REFSEQ:NM_001201 RPA|REFPROT:NP_001192 DBA|XM:NM_001201 |NA:M22491 |NA:none PAC|XP:NP_001192 SYM|BMP3 NAM|bone morphogenetic protein 3 (osteogenic) FNC|bone morphogenetic protein 3 (osteogenic) precursor |skeletal development ; GO:0001501 |cell-cell signaling ; GO:0007267 REAB|BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein induces bone formation. CHR|4 PRD|Bone morphogenetic protein-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121507 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=651[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125206 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001201 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001201 DBL|UNIGENE:Hs.121507 |OMIM:112263 |SNP:651 MAP|4p14-q21 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 HG|species == rat; score == 756; expect == 0.0; MEOW:ref|NP_058801.1| (80%) |species == Mouse; gene == Bmp3; score == 749; expect == 0.0; MEOW:MGgn0000836 (79%) |species == Human; gene == GDF10; score == 341; expect == 4.5e-94; MEOW:HUgn0002662 (46%) |species == Zfish; gene == admp; score == 141; expect == 4.6e-35; MEOW:ZFgn0002416 (29%) } # EOR GENR { RETE|ID 1 HUgn0000652 CHR 1 14 DID 1 LocusLink:652 MAP 1 14q22-q23 NAM 1 bone morphogenetic protein 4 ORG 1 Homo sapiens SYM 1 BMP4 ID|HUgn0000652 DID|LocusLink:652 ORG|Homo sapiens RSQ|REFSEQ:NM_001202 |REFSEQ:NM_130850 |REFSEQ:NM_130851 RPA|REFPROT:NP_001193 |REFPROT:NP_570911 |REFPROT:NP_570912 DBA|XM:NM_001202 |XM:NM_130850 |XM:NM_130851 |NA:AF035427 |NA:AF035428 |NA:AF210053 |NA:U43842 |NA:BC020546 |NA:D30751 |NA:M22490 |NA:none PAC|XP:NP_001193 |XP:NP_570911 |XP:NP_570912 SYM|BMP4 NAM|bone morphogenetic protein 4 SYN|ZYME |BMP2B |BMP2B1 FNC|bone morphogenetic protein 4 preproprotein |mesoderm development ; GO:0007498 |skeletal development ; GO:0001501 |growth ; GO:0040007 REAB|The protein encoded by this gene is a member of the bone morphogenetic protein family |which is part of the transforming growth factor-beta superfamily. The superfamily |includes large families of growth and differentiation factors. Bone morphogenetic |proteins were originally identified by an ability of demineralized bone extract |to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular |family member plays an important role in the onset of endochondral bone formation |in humans, and a reduction in expression has been associated with a variety of bone |diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. |Alternative splicing in the 5' untranslated region of this gene has been described |and three variants are described, all encoding an identical protein. CHR|14 PRD|bone morphogenetic protein 2B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=68879 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=652[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125205 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001202 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001202 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=68879 DBL|UNIGENE:Hs.68879 |OMIM:112262 |SNP:652 MAP|14q22-q23 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 |signal transducer activity ; GO:0004871 HG|species == Mouse; gene == Bmp4; score == 787; expect == 0.0; MEOW:MGgn0000837 (96%) |species == rat; score == 780; expect == 0.0; MEOW:ref|NP_036959.1| (96%) |species == Zfish; gene == bmp4; score == 535; expect == 1e-152; MEOW:ZFgn0000209 (67%) |species == Human; gene == BMP2; score == 468; expect == 2e-132; MEOW:HUgn0000650 (62%) |species == Mosquito; score == 292; expect == 1.5e-79; MEOW:AGgn0029252 (44%) |species == Mosquito; gene == LOC12367; score == 288; expect == 1.6e-78; MEOW:AGgn0012367 (44%) |species == Fruitfly; gene == dpp; score == 281; expect == 3.5e-76; MEOW:FBgn0000490 (42%) |species == Worm; gene == dbl-1; score == 145; expect == 3.6e-35; MEOW:CEgn0000376 (31%) } # EOR GENR { RETE|ID 1 HUgn0000653 CHR 1 6 DID 1 LocusLink:653 MAP 1 6p12.1 NAM 1 bone morphogenetic protein 5 ORG 1 Homo sapiens SYM 1 BMP5 ID|HUgn0000653 DID|LocusLink:653 ORG|Homo sapiens RSQ|REFSEQ:NM_021073 RPA|REFPROT:NP_066551 DBA|XM:NM_021073 |NA:AL137178 |NA:S81957 |NA:BC027958 |NA:M60314 |NA:none PAC|XP:NP_066551 SYM|BMP5 NAM|bone morphogenetic protein 5 SYN|MGC34244 FNC|bone morphogenetic protein 5 preproprotein |skeletal development ; GO:0001501 |growth ; GO:0040007 REAB|This gene encodes a member of the bone morphogenetic protein family which is part |of the transforming growth factor-beta superfamily. The superfamily includes large |families of growth and differentiation factors. Bone morphogenetic proteins were |originally identified by an ability of demineralized bone extract to induce endochondral |osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as |prepropeptides, cleaved, and then processed into dimeric proteins. This protein |may act as an important signaling molecule within the trabecular meshwork and optic |nerve head, and may play a potential role in glaucoma pathogenesis. This gene is |differentially regulated during the formation of various tumors. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=485599 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=653[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127595 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021073 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021073 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=485599 DBL|UNIGENE:Hs.485599 |OMIM:112265 |SNP:653 MAP|6p12.1 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Bmp5; score == 831; expect == 0.0; MEOW:MGgn0000838 (92%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_236415.2| (83%) |species == Human; gene == BMP7; score == 564; expect == 4e-161; MEOW:HUgn0000655 (65%) |species == Human; gene == BMP6; score == 488; expect == 2e-138; MEOW:HUgn0000654 (58%) |species == Zfish; gene == bmp7; score == 466; expect == 8e-132; MEOW:ZFgn0000704 (56%) |species == Fruitfly; gene == gbb; score == 252; expect == 3.4e-67; MEOW:FBgn0024234 (34%) |species == Mosquito; score == 248; expect == 3.6e-66; MEOW:AGgn0010264 (35%) |species == Mosquito; score == 216; expect == 8.9e-57; MEOW:AGgn0010678 (33%) |species == Worm; gene == dbl-1; score == 135; expect == 4.2e-32; MEOW:CEgn0000376 (48%) } # EOR GENR { RETE|ID 1 HUgn0000654 CHR 1 6 DID 1 LocusLink:654 MAP 1 6p24-p23 NAM 1 bone morphogenetic protein 6 ORG 1 Homo sapiens SYM 1 BMP6 ID|HUgn0000654 DID|LocusLink:654 ORG|Homo sapiens RSQ|REFSEQ:NM_001718 RPA|REFPROT:NP_001709 DBA|XM:NM_001718 |NA:AF083030 |NA:M60315 |NA:none PAC|XP:NP_001709 SYM|BMP6 NAM|bone morphogenetic protein 6 SYN|VGR |VGR1 FNC|bone morphogenetic protein 6 precursor |skeletal development ; GO:0001501 |growth ; GO:0040007 REAB|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules |that can induce ectopic bone growth. Many BMPs are part of the transforming growth |factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of |demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal |site. Based on its expression early in embryogenesis, the BMP encoded by this gene |has a proposed role in early development. In addition, the fact that this BMP is |closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive |activity. CHR|6 PRD|Vg-related sequence |transforming growth factor-beta |vegetal-related (TGFB related) cytokine |vegetal related growth factor (TGFB-related) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=285671 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=654[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127596 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001718 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001718 DBL|UNIGENE:Hs.285671 |OMIM:112266 |SNP:654 MAP|6p24-p23 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 HG|species == Mouse; gene == Bmp6; score == 734; expect == 0.0; MEOW:MGgn0000839 (90%) |species == Human; gene == BMP7; score == 531; expect == 4e-151; MEOW:HUgn0000655 (59%) |species == rat; score == 531; expect == 4e-151; MEOW:ref|XP_342592.1| (59%) |species == Human; gene == BMP5; score == 488; expect == 2e-138; MEOW:HUgn0000653 (58%) |species == rat; score == 469; expect == 2e-132; MEOW:ref|XP_236415.2| (57%) |species == Zfish; gene == bmp7; score == 451; expect == 4e-127; MEOW:ZFgn0000704 (52%) |species == Fruitfly; gene == gbb; score == 238; expect == 5.1e-63; MEOW:FBgn0024234 (34%) |species == Mosquito; score == 221; expect == 6.2e-58; MEOW:AGgn0010264 (37%) |species == Mosquito; score == 199; expect == 1.8e-51; MEOW:AGgn0010678 (38%) |species == Worm; gene == dbl-1; score == 132; expect == 3.9e-31; MEOW:CEgn0000376 (32%) } # EOR GENR { RETE|ID 1 HUgn0000655 CHR 1 20 DID 1 LocusLink:655 MAP 1 20q13 NAM 1 bone morphogenetic protein 7 (osteogenic protein 1) ORG 1 Homo sapiens SYM 1 BMP7 ID|HUgn0000655 DID|LocusLink:655 ORG|Homo sapiens RSQ|REFSEQ:NM_001719 RPA|REFPROT:NP_001710 DBA|XM:NM_001719 |NA:AF289090 |NA:BC004248 |NA:BC008584 |NA:M60316 |NA:X51801 |NA:none PAC|XP:NP_001710 SYM|BMP7 NAM|bone morphogenetic protein 7 (osteogenic protein 1) SYN|OP-1 FNC|bone morphogenetic protein 7 precursor |skeletal development ; GO:0001501 REAB|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules |that can induce ectopic bone growth. Many BMPs are part of the transforming growth |factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of |demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal |site. Based on its expression early in embryogenesis, the BMP encoded by this gene |has a proposed role in early development. In addition, the fact that this BMP is |closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive |activity. CHR|20 PRD|osteogenic protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170195 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=655[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127597 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001719 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001719 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170195 DBL|UNIGENE:Hs.170195 |OMIM:112267 |SNP:655 MAP|20q13 HG|species == Mouse; gene == Bmp7; score == 862; expect == 0.0; MEOW:MGgn0000840 (97%) |species == rat; score == 862; expect == 0.0; MEOW:ref|XP_342592.1| (97%) |species == Zfish; gene == bmp7; score == 575; expect == 2e-164; MEOW:ZFgn0000704 (68%) |species == Human; gene == BMP5; score == 564; expect == 4e-161; MEOW:HUgn0000653 (65%) |species == Human; gene == BMP6; score == 531; expect == 4e-151; MEOW:HUgn0000654 (59%) |species == Mosquito; score == 263; expect == 7.8e-71; MEOW:AGgn0010264 (38%) |species == Fruitfly; gene == gbb; score == 261; expect == 4.1e-70; MEOW:FBgn0024234 (36%) |species == Mosquito; score == 229; expect == 1.3e-60; MEOW:AGgn0010678 (35%) |species == Worm; gene == dbl-1; score == 136; expect == 2.3e-32; MEOW:CEgn0000376 (34%) } # EOR GENR { RETE|ID 1 HUgn0000656 CHR 1 1 DID 1 LocusLink:656 MAP 1 1p35-p32 NAM 1 bone morphogenetic protein 8b (osteogenic protein 2) ORG 1 Homo sapiens SYM 1 BMP8B ID|HUgn0000656 DID|LocusLink:656 ORG|Homo sapiens RSQ|REFSEQ:NM_001720 RPA|REFPROT:NP_001711 DBA|XM:NM_001720 |NA:AY303955 |NA:BC023526 |NA:F07575 |NA:none PAC|XP:NP_001711 SYM|BMP8B NAM|bone morphogenetic protein 8b (osteogenic protein 2) SYN|OP2 |BMP8 FNC|bone morphogenetic protein 8B preproprotein |cell growth and/or maintenance ; GO:0008151 |skeletal development ; GO:0001501 |growth ; GO:0040007 REAB|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules |that can induce ectopic bone growth. Many BMPs are part of the transforming growth |factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of |demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal |site. Based on its expression early in embryogenesis, the BMP encoded by this gene |has a proposed role in early development. In addition, the fact that this BMP is |closely related to BMP5 and BMP7 has led to speculation of possible bone inductive |activity. CHR|1 PRD|osteogenic protein 2 |bone morphogenetic protein 8 (osteogenic protein 2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409964 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=656[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136392 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001720 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001720 DBL|UNIGENE:Hs.409964 |OMIM:602284 |SNP:656 MAP|1p35-p32 ENZ|cytokine activity ; GO:0005125 |growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 HG|species == Human; gene == BMP8A; score == 621; expect == 2e-178; MEOW:HUgn0353500 (99%) |species == Mouse; gene == Bmp8b; score == 588; expect == 2e-168; MEOW:MGgn0000842 (74%) |species == Mouse; gene == Bmp8a; score == 578; expect == 2e-165; MEOW:MGgn0000841 (86%) |species == rat; score == 395; expect == 2e-110; MEOW:ref|XP_342592.1| (52%) |species == rat; score == 356; expect == 2.0e-98; MEOW:ref|XP_236415.2| (44%) |species == Zfish; gene == bmp7; score == 353; expect == 1.3e-97; MEOW:ZFgn0000704 (48%) |species == Mosquito; score == 204; expect == 6.1e-53; MEOW:AGgn0010264 (33%) |species == Fruitfly; gene == gbb; score == 197; expect == 1.3e-50; MEOW:FBgn0024234 (33%) |species == Mosquito; score == 181; expect == 5.1e-46; MEOW:AGgn0010678 (33%) |species == Fruitfly; gene == dpp; score == 160; expect == 8.9e-40; MEOW:FBgn0000490 (33%) } # EOR GENR { RETE|ID 1 HUgn0000657 CHR 1 10 DID 1 LocusLink:657 MAP 1 10q22.3 NAM 1 bone morphogenetic protein receptor, type IA ORG 1 Homo sapiens SYM 1 BMPR1A ID|HUgn0000657 DID|LocusLink:657 ORG|Homo sapiens RSQ|REFSEQ:NM_004329 RPA|REFPROT:NP_004320 DBA|XM:NM_004329 |NA:BC028383 |NA:Z22535 |NA:none PAC|XP:NP_004320 SYM|BMPR1A NAM|bone morphogenetic protein receptor, type IA SYN|ALK3 |ACVRLK3 FNC|bone morphogenetic protein receptor, type IA precursor |TGFbeta receptor signaling pathway ; GO:0007179 |protein amino acid phosphorylation ; GO:0006468 REAB|The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine |kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor |BMPR2. These receptors are also closely related to the activin receptors, ACVR1 |and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. |TGF-betas and activins transduce their signals through the formation of heteromeric |complexes with 2 different types of serine (threonine) kinase receptors: type I |receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors |bind ligands in the absence of type I receptors, but they require their respective |type I receptors for signaling, whereas type I receptors require their respective |type II receptors for ligand binding. CHR|10 PRD|activin A receptor, type II-like kinase 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2534 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=657[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230245 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004329 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004329 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2534 |http://www.geneclinics.org/query?mim=601299 DBL|UNIGENE:Hs.2534 |OMIM:601299 |SNP:657 ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|10q22.3 PHP|Cowden-like syndrome |Polyposis, juvenile intestinal CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1050; expect == 0.0; MEOW:ref|NP_110476.1| (97%) |species == Mouse; gene == Bmpr1a; score == 976; expect == 0.0; MEOW:MGgn0000844 (97%) |species == rat; score == 870; expect == 0.0; MEOW:ref|XP_213162.2| (83%) |species == Zfish; gene == bmpr1a; score == 806; expect == 0.0; MEOW:ZFgn0000900 (77%) |species == Human; gene == BMPR1B; score == 730; expect == 0.0; MEOW:HUgn0000658 (73%) |species == Zfish; gene == bmpr1b; score == 711; expect == 0.0; MEOW:ZFgn0000672 (68%) |species == Human; gene == LOC283155; score == 623; expect == 3e-179; MEOW:HUgn0283155 (98%) |species == Mosquito; score == 473; expect == 1e-133; MEOW:AGgn0015057 (53%) |species == Fruitfly; gene == tkv; score == 464; expect == 3e-131; MEOW:FBgn0003716 (52%) |species == Fruitfly; gene == babo; score == 458; expect == 4e-129; MEOW:FBgn0011300 (47%) |species == Mosquito; score == 426; expect == 7e-120; MEOW:AGgn0006764 (47%) |species == Mosquito; score == 409; expect == 2e-114; MEOW:AGgn0020732 (44%) |species == Mosquito; score == 402; expect == 9e-113; MEOW:AGgn0002247 (60%) |species == Fruitfly; gene == sax; score == 396; expect == 3e-110; MEOW:FBgn0003317 (43%) |species == Worm; gene == sma-6; score == 264; expect == 1.0e-70; MEOW:CEgn0002563 (32%) |species == Worm; gene == daf-1; score == 244; expect == 1.1e-64; MEOW:CEgn0000344 (39%) } # EOR GENR { RETE|ID 1 HUgn0000658 CHR 1 4 DID 1 LocusLink:658 MAP 1 4q22-q24 NAM 1 bone morphogenetic protein receptor, type IB ORG 1 Homo sapiens SYM 1 BMPR1B ID|HUgn0000658 DID|LocusLink:658 ORG|Homo sapiens RSQ|REFSEQ:NM_001203 RPA|REFPROT:NP_001194 DBA|XM:NM_001203 |NA:BC047773 |NA:D89675 |NA:U89326 |NA:none PAC|XP:NP_001194 SYM|BMPR1B NAM|bone morphogenetic protein receptor, type IB SYN|ALK6 |ALK-6 FNC|bone morphogenetic protein receptor, type IB |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|This gene encodes a member of the bone morphogenetic protein (BMP) receptor family |of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, |which are members of the TGF-beta superfamily. BMPs are involved in endochondral |bone formation and embryogenesis. These proteins transduce their signals through |the formation of heteromeric complexes of 2 different types of serine (threonine) |kinase receptors: type I receptors of about 50-55 kD and type II receptors of about |70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but |they require their respective type I receptors for signaling, whereas type I receptors |require their respective type II receptors for ligand binding. Mutations in this |gene have been associated with primary pulmonary hypertension. This gene expresses |two transcript variants. CHR|4 PRD|serine/threonine receptor kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87223 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=658[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5892549 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001203 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001203 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=87223 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.87223 |OMIM:603248 |SNP:658 MAP|4q22-q24 ENZ|ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Bmpr1b; score == 1004; expect == 0.0; MEOW:MGgn0000845 (98%) |species == rat; score == 922; expect == 0.0; MEOW:ref|XP_227759.2| (96%) |species == Zfish; gene == bmpr1b; score == 836; expect == 0.0; MEOW:ZFgn0000672 (82%) |species == Human; gene == BMPR1A; score == 730; expect == 0.0; MEOW:HUgn0000657 (73%) |species == Zfish; gene == bmpr1a; score == 715; expect == 0.0; MEOW:ZFgn0000900 (70%) |species == Mosquito; score == 481; expect == 4e-136; MEOW:AGgn0015057 (53%) |species == Fruitfly; gene == tkv; score == 469; expect == 1e-132; MEOW:FBgn0003716 (52%) |species == Fruitfly; gene == babo; score == 469; expect == 3e-132; MEOW:FBgn0011300 (48%) |species == Mosquito; score == 423; expect == 7e-119; MEOW:AGgn0006764 (47%) |species == Mosquito; score == 413; expect == 1e-115; MEOW:AGgn0020732 (46%) |species == Mosquito; score == 406; expect == 7e-114; MEOW:AGgn0002247 (61%) |species == Fruitfly; gene == sax; score == 402; expect == 4e-112; MEOW:FBgn0003317 (48%) |species == Worm; gene == sma-6; score == 272; expect == 3.7e-73; MEOW:CEgn0002563 (35%) |species == Worm; gene == daf-1; score == 243; expect == 2.5e-64; MEOW:CEgn0000344 (37%) } # EOR GENR { RETE|ID 1 HUgn0000659 CHR 1 2 DID 1 LocusLink:659 MAP 1 2q33-q34 NAM 1 bone morphogenetic protein receptor, type II (serine/threonine kinase) ORG 1 Homo sapiens SYM 1 BMPR2 ID|HUgn0000659 DID|LocusLink:659 ORG|Homo sapiens RSQ|REFSEQ:NM_001204 |REFSEQ:NM_033346 RPA|REFPROT:NP_001195 |REFPROT:NP_203132 DBA|XM:NM_001204 |XM:NM_033346 |NA:BC018743 |NA:BC032011 |NA:BC035097 |NA:BC041039 |NA:BC043650 |NA:BC052985 |NA:BF063564 |NA:D50516 |NA:U20165 |NA:U25110 |NA:Z48923 |NA:none PAC|XP:NP_001195 |XP:NP_203132 SYM|BMPR2 NAM|bone morphogenetic protein receptor, type II (serine/threonine kinase) SYN|BMR2 |PPH1 |BMPR3 |BRK-3 |T-ALK |BMPR-II FNC|bone morphogenetic protein receptor, type II isoform 1 precursor |bone morphogenetic protein receptor, type II isoform 2, precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |skeletal development ; GO:0001501 REAB|This gene encodes a member of the bone morphogenetic protein (BMP) receptor family |of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, |which are members of the TGF-beta superfamily. BMPs are involved in endochondral |bone formation and embryogenesis. These proteins transduce their signals through |the formation of heteromeric complexes of 2 different types of serine (threonine) |kinase receptors: type I receptors of about 50-55 kD and type II receptors of about |70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but |they require their respective type I receptors for signaling, whereas type I receptors |require their respective type II receptors for ligand binding. Mutations in this |gene have been associated with primary pulmonary hypertension. This gene expresses |two transcript variants. CHR|2 PRD|serine/threonine kinase |type II activin receptor-like kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=53250 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=659[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642243 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001204 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001204 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=53250 |http://www.geneclinics.org/query?mim=600799 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.53250 |OMIM:600799 |SNP:659 ENZ|EC:2.7.1.37 |protein binding ; GO:0005515 MAP|2q33-q34 PHP|Pulmonary hypertension, familial primary CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Bmpr2; score == 1814; expect == 0.0; MEOW:MGgn0000846 (96%) |species == rat; score == 952; expect == 0.0; MEOW:ref|XP_217409.2| (95%) |species == Mosquito; gene == LOC17662; score == 381; expect == 4e-106; MEOW:AGgn0017662 (43%) |species == Fruitfly; gene == wit; score == 348; expect == 7.9e-96; MEOW:FBgn0024179 (37%) |species == Human; gene == ACVR2; score == 276; expect == 2.6e-74; MEOW:HUgn0000092 (36%) |species == Human; gene == ACVR2B; score == 276; expect == 2.6e-74; MEOW:HUgn0000093 (37%) |species == Zfish; gene == acvr2b; score == 271; expect == 7.1e-74; MEOW:ZFgn0000184 (37%) |species == Human; gene == AMHR2; score == 262; expect == 4.4e-70; MEOW:HUgn0000269 (34%) |species == Human; gene == TGFBR2; score == 231; expect == 1.1e-60; MEOW:HUgn0007048 (32%) |species == Worm; gene == daf-1; score == 154; expect == 1.3e-37; MEOW:CEgn0000344 (32%) |species == Worm; gene == daf-4; score == 149; expect == 7.4e-36; MEOW:CEgn0000347 (36%) |species == Worm; gene == sma-6; score == 146; expect == 4.7e-35; MEOW:CEgn0002563 (30%) } # EOR GENR { RETE|ID 1 HUgn0000660 CHR 1 X DID 1 LocusLink:660 MAP 1 Xp22.2 NAM 1 BMX non-receptor tyrosine kinase ORG 1 Homo sapiens SYM 1 BMX ID|HUgn0000660 DID|LocusLink:660 ORG|Homo sapiens RSQ|REFSEQ:NM_001721 RPA|REFPROT:NP_001712 DBA|XM:NM_001721 |NA:AF045459 |NA:BC016652 |NA:X83107 |NA:none PAC|XP:NP_001712 SYM|BMX NAM|BMX non-receptor tyrosine kinase SYN|ETK |PSCTK2 |PSCTK3 FNC|BMX non-receptor tyrosine kinase |mesoderm development ; GO:0007498 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 REAB|Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular |domains, or nonreceptor proteins, which are located intracellularly. One family |of nonreceptor TKs includes the genes TEC (MIM 600583), TXK (MIM 600058), ITK (MIM |186973), and BTK (MIM 300300). All of these proteins are homologs of the Drosophila |Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.[supplied by |OMIM] CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=27372 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=660[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439051 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001721 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001721 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=27372 DBL|UNIGENE:Hs.27372 |OMIM:300101 |SNP:660 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |transferase activity ; GO:0016740 MAP|Xp22.2 HG|species == Mouse; gene == Bmx; score == 1158; expect == 0.0; MEOW:MGgn0000847 (87%) |species == rat; score == 1028; expect == 0.0; MEOW:ref|XP_346303.1| (76%) |species == Human; gene == BTK; score == 640; expect == 0.0; MEOW:HUgn0000695 (47%) |species == Human; gene == TEC; score == 603; expect == 1e-172; MEOW:HUgn0007006 (45%) |species == Human; gene == ITK; score == 565; expect == 3e-161; MEOW:HUgn0003702 (44%) |species == Zfish; gene == itk; score == 512; expect == 1e-146; MEOW:ZFgn0000238 (42%) |species == Mosquito; score == 416; expect == 1e-116; MEOW:AGgn0006704 (53%) |species == Fruitfly; gene == Btk29A; score == 414; expect == 1e-115; MEOW:FBgn0003502 (52%) |species == Worm; gene == abl-1; score == 287; expect == 8.1e-78; MEOW:CEgn0000002 (40%) |species == Worm; gene == src-2; score == 268; expect == 5.1e-72; MEOW:CEgn0026958 (31%) |species == rice; score == 162; expect == 1.7e-39; MEOW:gnl|TIGR|8357.m03093 (34%) |species == Weed; gene == At1g67890; score == 156; expect == 5.4e-38; MEOW:ATgn0006424 (34%) |species == Weed; gene == At5g03730; score == 154; expect == 1.2e-37; MEOW:ATgn0024018 (33%) |species == Weed; gene == At1g18160; score == 153; expect == 3.5e-37; MEOW:ATgn0006749 (33%) |species == rice; score == 153; expect == 2.3e-37; MEOW:gnl|TIGR|8359.m00564 (31%) |species == Weed; gene == At5g49470; score == 152; expect == 6.0e-37; MEOW:ATgn0022825 (33%) |species == chimp; score == 152; expect == 1.4e-38; MEOW:sp|BAC78172|BAC78172 (30%) |species == Weed; gene == At3g06640; score == 151; expect == 1.0e-36; MEOW:ATgn0016813 (33%) |species == rice; score == 151; expect == 2.9e-36; MEOW:gnl|TIGR|8351.m04858 (34%) |species == Weed; gene == At2g17700; score == 150; expect == 2.3e-36; MEOW:ATgn0028393 (30%) |species == Weed; gene == At1g73660; score == 149; expect == 6.6e-36; MEOW:ATgn0006971 (34%) |species == Weed; gene == At2g31010; score == 148; expect == 1.1e-35; MEOW:ATgn0008444 (30%) |species == Weed; gene == At3g06620; score == 148; expect == 8.6e-36; MEOW:ATgn0016803 (32%) |species == Weed; gene == At4g35780; score == 148; expect == 8.6e-36; MEOW:ATgn0017130 (30%) |species == rice; score == 148; expect == 2.5e-35; MEOW:gnl|TIGR|8355.m02702 (33%) |species == rice; score == 145; expect == 2.1e-34; MEOW:gnl|TIGR|8359.m03563 (33%) |species == rice; score == 142; expect == 1.0e-33; MEOW:gnl|TIGR|8352.m04835 (32%) |species == rice; score == 141; expect == 2.3e-33; MEOW:gnl|TIGR|8354.m04232 (30%) |species == rice; score == 141; expect == 3.0e-33; MEOW:gnl|TIGR|8357.m03295 (35%) |species == Weed; gene == At3g46920; score == 137; expect == 4.8e-32; MEOW:ATgn0013556 (33%) |species == rice; score == 137; expect == 4.4e-32; MEOW:gnl|TIGR|8352.m05524 (31%) |species == rice; score == 136; expect == 7.5e-32; MEOW:gnl|TIGR|8355.m04796 (34%) } # EOR GENR { RETE|ID 1 HUgn0000661 CHR 1 8 DID 1 LocusLink:661 MAP 1 8q21 NAM 1 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa ORG 1 Homo sapiens SYM 1 POLR3D ID|HUgn0000661 DID|LocusLink:661 ORG|Homo sapiens RSQ|REFSEQ:NM_001722 RPA|REFPROT:NP_001713 DBA|XM:NM_001722 |NA:AF346574 |NA:AK026588 |NA:AY092086 |NA:BC000516 |NA:BC002603 |NA:BC003039 |NA:BC004484 |NA:M17754 |NA:none PAC|XP:NP_001713 SYM|POLR3D NAM|polymerase (RNA) III (DNA directed) polypeptide D, 44kDa SYN|RPC4 |BN51T |TSBN51 FNC|RNA polymerase III 53 kDa subunit RPC4 |transcription ; GO:0006350 |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 REAB|This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian |hamster cell line. It leads to a block in progression through the G1 phase of the |cell cycle at nonpermissive temperatures. CHR|8 PRD|BN51 (BHK21) temperature sensitivity complementing |temperature sensitive complementation, cell cycle specific, tsBN51 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1276 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=661[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119728 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001722 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001722 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1276 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.1276 |OMIM:187280 |SNP:661 MAP|8q21 ENZ|DNA-directed RNA polymerase activity ; GO:0003899 |DNA binding ; GO:0003677 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 HG|species == rat; score == 564; expect == 3e-161; MEOW:ref|XP_224335.2| (88%) |species == Mouse; gene == Polr3d; score == 558; expect == 2e-159; MEOW:MGgn0021827 (87%) } # EOR GENR { RETE|ID 1 HUgn0000662 CHR 1 5 DID 1 LocusLink:662 MAP 1 5q33-q34 NAM 1 BCL2/adenovirus E1B 19kDa interacting protein 1 ORG 1 Homo sapiens SYM 1 BNIP1 ID|HUgn0000662 DID|LocusLink:662 ORG|Homo sapiens RSQ|REFSEQ:NM_001205 |REFSEQ:NM_013978 |REFSEQ:NM_013979 |REFSEQ:NM_013980 RPA|REFPROT:NP_001196 |REFPROT:NP_053581 |REFPROT:NP_053582 |REFPROT:NP_053583 DBA|XM:NM_001205 |XM:NM_013978 |XM:NM_013979 |XM:NM_013980 |NA:AF083956 |NA:AF083957 |NA:AF083958 |NA:BC010959 |NA:U15172 |NA:none PAC|XP:NP_001196 |XP:NP_053581 |XP:NP_053582 |XP:NP_053583 SYM|BNIP1 NAM|BCL2/adenovirus E1B 19kDa interacting protein 1 SYN|NIP1 FNC|BCL2/adenovirus E1B 19kD interacting protein 1 isoform BNIP1 |BCL2/adenovirus E1B 19kD interacting protein 1 isoform BNIP1-a |BCL2/adenovirus E1B 19kD interacting protein 1 isoform BNIP1-b |BCL2/adenovirus E1B 19kD interacting protein 1 isoform BNIP1-c |anti-apoptosis ; GO:0006916 |apoptosis ; GO:0006915 REAB|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) |family. It interacts with the E1B 19 kDa protein which is responsible for the protection |of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also |an apoptotic protector. Alternative splicing of this gene results in four products |of unknown function. CHR|5 PRD|Nip1 |BCL2/adenovirus E1B 19kD interacting protein 1 |BCL2/adenovirus E1B 19kD-interacting protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=145726 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=662[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5903579 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013979 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013979 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=145726 DBL|UNIGENE:Hs.145726 |OMIM:603291 |SNP:662 MAP|5q33-q34 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 395; expect == 1e-110; MEOW:ref|NP_543173.1| (94%) } # EOR GENR { RETE|ID 1 HUgn0000663 CHR 1 15 DID 1 LocusLink:663 MAP 1 15q21.3 NAM 1 BCL2/adenovirus E1B 19kDa interacting protein 2 ORG 1 Homo sapiens SYM 1 BNIP2 ID|HUgn0000663 DID|LocusLink:663 ORG|Homo sapiens RSQ|REFSEQ:NM_004330 RPA|REFPROT:NP_004321 DBA|XM:NM_004330 |NA:BC002461 |NA:U15173 |NA:none PAC|XP:NP_004321 SYM|BNIP2 NAM|BCL2/adenovirus E1B 19kDa interacting protein 2 SYN|NIP2 |BNIP-2 FNC|BCL2/adenovirus E1B 19kD interacting protein 2 |anti-apoptosis ; GO:0006916 |apoptosis ; GO:0006915 REAB|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) |family. Though the specific function is unknown, it interacts with the E1B 19 kDa |protein which is responsible for the protection of virally-induced cell death, as |well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. CHR|15 PRD|Nip2 |BCL2/adenovirus E1B 19kD interacting protein 2 |BCL2/adenovirus E1B 19kD-interacting protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=204539 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=663[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5912680 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004330 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004330 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=204539 DBL|UNIGENE:Hs.204539 |OMIM:603292 |SNP:663 MAP|15q21.3 ENZ|apoptosis inhibitor activity ; GO:0008189 |GTPase activator activity ; GO:0005096 HG|species == Mouse; gene == Bnip2; score == 588; expect == 1e-168; MEOW:MGgn0000853 (89%) |species == rat; score == 581; expect == 2e-166; MEOW:ref|XP_217191.2| (84%) |species == Human; gene == ATCAY; score == 352; expect == 1.5e-97; MEOW:HUgn0085300 (54%) |species == Human; gene == KIAA0367; score == 335; expect == 2.5e-92; MEOW:HUgn0023273 (58%) |species == Human; gene == BNIP-S; score == 284; expect == 4.2e-77; MEOW:HUgn0149428 (47%) |species == Fruitfly; gene == CG11593; score == 201; expect == 3.3e-52; MEOW:FBgn0035488 (43%) |species == Mosquito; score == 189; expect == 7.9e-49; MEOW:AGgn0017665 (48%) } # EOR GENR { RETE|ID 1 HUgn0000664 CHR 1 10 DID 1 LocusLink:664 MAP 1 10q26.3 NAM 1 BCL2/adenovirus E1B 19kDa interacting protein 3 ORG 1 Homo sapiens SYM 1 BNIP3 ID|HUgn0000664 DID|LocusLink:664 ORG|Homo sapiens RSQ|REFSEQ:NM_004052 RPA|REFPROT:NP_004043 DBA|XM:NM_004052 |NA:AF002697 |NA:BC009342 |NA:BC021989 |NA:U15174 |NA:none PAC|XP:NP_004043 SYM|BNIP3 NAM|BCL2/adenovirus E1B 19kDa interacting protein 3 SYN|NIP3 FNC|BCL2/adenovirus E1B 19kD-interacting protein 3 |anti-apoptosis ; GO:0006916 |apoptosis ; GO:0006915 REAB|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) |family. It interacts with the E1B 19 kDa protein which is responsible for the protection |of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also |an apoptotic protector. This gene contains a BH3 domain and a transmembrane domain, |which have been associated with pro-apoptotic function. The dimeric mitochondrial |protein encoded by this gene is known to induce apoptosis, even in the presence |of BCL2. CHR|10 PRD|Nip3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79428 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=664[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5912681 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004052 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004052 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79428 DBL|UNIGENE:Hs.79428 |OMIM:603293 |SNP:664 MAP|10q26.3 ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == rat; score == 266; expect == 4.8e-72; MEOW:ref|NP_445872.1| (90%) |species == Mouse; gene == Bnip3; score == 265; expect == 1.1e-71; MEOW:MGgn0000854 (90%) |species == Human; gene == BNIP3L; score == 164; expect == 2.6e-41; MEOW:HUgn0000665 (57%) } # EOR GENR { RETE|ID 1 HUgn0000665 CHR 1 8 DID 1 LocusLink:665 MAP 1 8p21 NAM 1 BCL2/adenovirus E1B 19kDa interacting protein 3-like ORG 1 Homo sapiens SYM 1 BNIP3L ID|HUgn0000665 DID|LocusLink:665 ORG|Homo sapiens RSQ|REFSEQ:NM_004331 RPA|REFPROT:NP_004322 DBA|XM:NM_004331 |NA:AB004788 |NA:AF060922 |NA:AF067396 |NA:AF079221 |NA:AF452712 |NA:AF536326 |NA:AL132665 |NA:BC001559 |NA:BC009603 |NA:none PAC|XP:NP_004322 SYM|BNIP3L NAM|BCL2/adenovirus E1B 19kDa interacting protein 3-like SYN|NIX |BNIP3a FNC|BCL2/adenovirus E1B 19kD-interacting protein 3-like |negative regulation of survival gene products ; GO:0008634 |induction of apoptosis ; GO:0006917 |apoptosis ; GO:0006915 REAB|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) |family. It interacts with the E1B 19 kDa protein which is responsible for the protection |of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also |an apoptotic protector. The protein encoded by this gene is a functional homolog |of BNIP3, a proapoptotic protein. This protein may function simultaneously with |BNIP3 and may play a role in tumor suppression. CHR|8 PRD|Nix |adenovirus E1B19k-binding protein B5 |BCL2/adenovirus E1B 19kD interacting protein 3-like |BCL2/adenovirus E1B 19-kd protein-interacting protein 3a URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=132955 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=665[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278876 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004331 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004331 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=132955 DBL|UNIGENE:Hs.132955 |OMIM:605368 |SNP:665 MAP|8p21 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == rat; score == 295; expect == 9.7e-81; MEOW:ref|NP_543164.1| (97%) |species == Mouse; gene == Bnip3l; score == 293; expect == 2.5e-80; MEOW:MGgn0000855 (97%) |species == Human; gene == BNIP3; score == 164; expect == 2.6e-41; MEOW:HUgn0000664 (57%) } # EOR GENR { RETE|ID 1 HUgn0000666 CHR 1 2 DID 1 LocusLink:666 MAP 1 2q37.3 NAM 1 BCL2-related ovarian killer ORG 1 Homo sapiens SYM 1 BOK ID|HUgn0000666 DID|LocusLink:666 ORG|Homo sapiens RSQ|REFSEQ:NM_032515 RPA|REFPROT:NP_115904 DBA|XM:NM_032515 |NA:AF089746 |NA:AF174487 |NA:BC006203 |NA:BC017214 |NA:BG118500 |NA:BI550157 |NA:BU855574 |NA:BX372066 |NA:CD368092 |NA:H17007 PAC|XP:NP_115904 SYM|BOK NAM|BCL2-related ovarian killer SYN|BOKL |BCL2L9 |MGC4631 FNC|BCL2-related ovarian killer |induction of apoptosis ; GO:0006917 REAB|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family |members form hetero- or homodimers and act as anti- and pro-apoptotic regulators |that are involved in a wide variety of cellular activities. This protein contains |all four BCL-2 like domains (BH1, 2, 3 and 4) and is a pro-apoptotic BCL-2 protein |identified in the ovary. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=293753 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=666[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9798395 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032515 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032515 DBL|UNIGENE:Hs.293753 |OMIM:605404 |SNP:666 MAP|2q37.3 HG|species == Mouse; gene == Bok; score == 402; expect == 4e-113; MEOW:MGgn0014012 (95%) |species == rat; score == 402; expect == 5e-113; MEOW:ref|NP_059008.1| (95%) } # EOR GENR { RETE|ID 1 HUgn0000667 CHR 1 6 DID 1 LocusLink:667 MAP 1 6p12-p11 NAM 1 bullous pemphigoid antigen 1, 230/240kDa ORG 1 Homo sapiens SYM 1 BPAG1 ID|HUgn0000667 DID|LocusLink:667 ORG|Homo sapiens RSQ|REFSEQ:NM_001723 |REFSEQ:NM_015548 |REFSEQ:NM_020388 |REFSEQ:NM_183380 RPA|REFPROT:NP_001714 |REFPROT:NP_056363 |REFPROT:NP_065121 |REFPROT:NP_899236 DBA|XM:NM_001723 |XM:NM_015548 |XM:NM_020388 |NA:AL096710 |NA:L08972 |NA:U04850 |NA:AB018271 |NA:AF083131 |NA:AF165191 |NA:AF400226 |NA:AF400227 |NA:AK023487 |NA:AK025142 |NA:AK055189 |NA:AK056797 |NA:AK090517 |NA:AK094883 |NA:AK095166 |NA:AK096713 |NA:AL110142 |NA:AY032900 |NA:AY032901 |NA:BC004912 |NA:BC016991 |NA:BC023254 |NA:BC051772 |NA:L11690 |NA:M22942 |NA:M63618 |NA:M69225 |NA:U31850 |NA:U31851 |NA:X58677 |NA:X75692 |NA:none PAC|XP:NP_001714 |XP:NP_056363 |XP:NP_065121 SYM|BPAG1 NAM|bullous pemphigoid antigen 1, 230/240kDa SYN|BPA |BP240 |CATX-15 |FLJ13425 |FLJ21489 |FLJ30627 |FLJ32235 |KIAA0728 FNC|bullous pemphigoid antigen 1 isoform 1 |bullous pemphigoid antigen 1 isoform 1e precursor |bullous pemphigoid antigen 1 isoform 1eA precursor |bullous pemphigoid antigen 1 isoform 1eB precursor |cytoskeleton organization and biogenesis ; GO:0007010 REAB|This gene encodes a member of the plakin protein family of adhesion junction plaque |proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms |have been found for this gene, but the full-length nature of some variants has not |been defined. It has been known that some isoforms are expressed in neural and muscle |tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some |isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate |filaments to hemidesmosomes. Consistent with the expression, mice defective for |this gene show skin blistering and neurodegeneration. CHR|6 PRD|dystonin |hemidesmosomal plaque protein |bullous pemphigoid antigen 1 (230/240kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443518 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=667[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125207 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183380 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183380 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443518 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0728 DBL|UNIGENE:Hs.443518 |OMIM:113810 |SNP:667 MAP|6p12-p11 CEL|basement membrane ; GO:0005604 |extracellular matrix ; GO:0005578 |intercellular junction ; GO:0005911 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Dst; score == 4184; expect == 0.0; MEOW:MGgn0003571 (85%) |species == rat; score == 4165; expect == 0.0; MEOW:ref|XP_237042.2| (85%) |species == Human; gene == MACF1; score == 993; expect == 0.0; MEOW:HUgn0023499 (33%) |species == Human; gene == PLEC1; score == 850; expect == 0.0; MEOW:HUgn0005339 (31%) |species == Human; gene == DSP; score == 803; expect == 0.0; MEOW:HUgn0001832 (25%) |species == Fruitfly; gene == shot; score == 285; expect == 3.0e-76; MEOW:FBgn0013733 (21%) |species == Mosquito; score == 272; expect == 9.4e-73; MEOW:AGgn0011363 (24%) |species == Yeast; gene == USO1; score == 140; expect == 3.6e-33; MEOW:SGgn0002216 (19%) } # EOR GENR { RETE|ID 1 HUgn0000668 CHR 1 3 DID 1 LocusLink:668 MAP 1 3q23 NAM 1 forkhead box L2 ORG 1 Homo sapiens SYM 1 FOXL2 ID|HUgn0000668 DID|LocusLink:668 ORG|Homo sapiens RSQ|REFSEQ:NM_023067 RPA|REFPROT:NP_075555 DBA|XM:NM_023067 |NA:AF301906 |NA:none PAC|XP:NP_075555 SYM|FOXL2 NAM|forkhead box L2 SYN|BPES |PFRK |BPES1 |PINTO FNC|forkhead box L2 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|3 PRD|forkhead transcription factor FOXL2 |blepharophimosis, epicanthus inversus and ptosis |Blepharophimosis, epicanthus inversus, and ptosis 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=289292 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=668[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129025 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_023067 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_023067 |http://www.geneclinics.org/query?mim=605597 DBL|UNIGENE:Hs.289292 |OMIM:605597 |SNP:668 MAP|3q23 PHP|Blepharophimosis, epicanthus inversus, and ptosis, type 1 |Blepharophimosis, epicanthus inversus, and ptosis, type 2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 375; expect == 3e-104; MEOW:ref|XP_345976.1| (94%) |species == Mouse; gene == Foxl2; score == 334; expect == 7.0e-92; MEOW:MGgn0008943 (92%) |species == Mosquito; gene == LOC13200; score == 163; expect == 9.3e-41; MEOW:AGgn0013200 (82%) |species == Human; gene == FOXL1; score == 151; expect == 7.6e-37; MEOW:HUgn0002300 (67%) |species == Human; gene == LOC344167; score == 142; expect == 2.2e-34; MEOW:HUgn0344167 (63%) |species == Human; gene == FOXI1; score == 138; expect == 4.4e-33; MEOW:HUgn0002299 (60%) |species == Human; gene == FOXE1; score == 138; expect == 5.7e-33; MEOW:HUgn0002304 (66%) |species == Mosquito; gene == LOC25119; score == 137; expect == 1.1e-32; MEOW:AGgn0025119 (68%) |species == Human; gene == FOXC2; score == 137; expect == 1.3e-32; MEOW:HUgn0002303 (65%) |species == Human; gene == FKHL18; score == 137; expect == 7.4e-33; MEOW:HUgn0002307 (67%) |species == Zfish; gene == foxc1b; score == 137; expect == 5.1e-34; MEOW:ZFgn0002146 (65%) |species == Mosquito; gene == LOC13521; score == 136; expect == 1.6e-32; MEOW:AGgn0013521 (65%) |species == Human; gene == FOXG1B; score == 136; expect == 2.2e-32; MEOW:HUgn0002290 (44%) |species == Zfish; gene == foxc1a; score == 136; expect == 1.1e-33; MEOW:ZFgn0002131 (65%) |species == Human; gene == FOXC1; score == 135; expect == 4.8e-32; MEOW:HUgn0002296 (64%) |species == Fruitfly; gene == slp2; score == 134; expect == 1.3e-31; MEOW:FBgn0004567 (66%) |species == Fruitfly; gene == croc; score == 134; expect == 3.7e-32; MEOW:FBgn0014143 (64%) |species == Mosquito; gene == LOC10531; score == 133; expect == 7.9e-32; MEOW:AGgn0010531 (63%) |species == Fruitfly; gene == fd59A; score == 133; expect == 8.3e-32; MEOW:FBgn0004896 (63%) |species == Human; gene == FOXD3; score == 132; expect == 4.1e-31; MEOW:HUgn0027022 (63%) |species == Zfish; gene == foxd3; score == 132; expect == 2.1e-32; MEOW:ZFgn0000023 (63%) |species == Zfish; gene == foxd5; score == 132; expect == 2.1e-32; MEOW:ZFgn0000448 (65%) |species == Zfish; gene == foxg1; score == 132; expect == 4.7e-31; MEOW:ZFgn0000525 (56%) |species == Fruitfly; gene == fd64A; score == 131; expect == 4.1e-31; MEOW:FBgn0004895 (59%) |species == Zfish; gene == foxd1; score == 127; expect == 5.3e-31; MEOW:ZFgn0000450 (62%) } # EOR GENR { RETE|ID 1 HUgn0000669 CHR 1 7 DID 1 LocusLink:669 MAP 1 7q31-q34 NAM 1 2,3-bisphosphoglycerate mutase ORG 1 Homo sapiens SYM 1 BPGM ID|HUgn0000669 DID|LocusLink:669 ORG|Homo sapiens RSQ|REFSEQ:NM_001724 RPA|REFPROT:NP_001715 DBA|XM:NM_001724 |XM:NM_001724 |NA:M23068 |NA:AK097778 |NA:BC017050 |NA:X04327 |NA:none PAC|XP:NP_001715 |XP:NP_001715 SYM|BPGM NAM|2,3-bisphosphoglycerate mutase FNC|2,3-bisphosphoglycerate mutase |glycolysis ; GO:0006096 |respiratory gaseous exchange ; GO:0007585 |carbohydrate metabolism ; GO:0005975 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=198365 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=669[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119039 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001724 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001724 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=198365 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.198365 |OMIM:222800 |SNP:669 ENZ|EC:5.4.2.1 |EC:5.4.2.4 |EC:3.1.3.13 |bisphosphoglycerate mutase activity ; GO:0004082 |hydrolase activity ; GO:0016787 |isomerase activity ; GO:0016853 |bisphosphoglycerate phosphatase activity ; GO:0004083 MAP|7q31-q34 PHP|Hemolytic anemia due to bisphosphoglycerate mutase deficiency HG|species == Mouse; gene == Bpgm; score == 502; expect == 6e-143; MEOW:MGgn0000861 (92%) |species == rat; score == 496; expect == 4e-141; MEOW:ref|XP_216120.2| (91%) |species == Human; gene == PGAM1; score == 304; expect == 2.7e-83; MEOW:HUgn0005223 (53%) |species == Human; gene == PGAM2; score == 291; expect == 3.0e-79; MEOW:HUgn0005224 (50%) |species == chimp; score == 288; expect == 3.1e-80; MEOW:sp|Q8MKE8|PMG3_PANTR (51%) |species == Mosquito; score == 266; expect == 3.6e-72; MEOW:AGgn0015800 (48%) |species == Fruitfly; gene == Pglym87; score == 264; expect == 2.4e-71; MEOW:FBgn0011270 (49%) |species == Fruitfly; gene == Pglym78; score == 264; expect == 1.8e-71; MEOW:FBgn0014869 (49%) |species == ecoli; score == 249; expect == 1.7e-67; MEOW:ref|NP_415276.1| (46%) |species == Yeast; gene == GPM1; score == 239; expect == 3.1e-64; MEOW:SGgn0001635 (48%) |species == Mosquito; gene == LOC13158; score == 226; expect == 1.2e-59; MEOW:AGgn0013158 (44%) |species == Mosquito; score == 215; expect == 1.2e-56; MEOW:AGgn0026590 (43%) |species == rice; score == 141; expect == 1.1e-33; MEOW:gnl|TIGR|8351.m04924 (32%) |species == Weed; gene == At1g22170; score == 139; expect == 2.0e-33; MEOW:ATgn0004911 (32%) } # EOR GENR { RETE|ID 1 HUgn0000670 CHR 1 6 DID 1 LocusLink:670 MAP 1 6p25 NAM 1 biphenyl hydrolase-like (serine hydrolase; breast epithelial mucin-associated antigen) ORG 1 Homo sapiens SYM 1 BPHL ID|HUgn0000670 DID|LocusLink:670 ORG|Homo sapiens RSQ|REFSEQ:NM_004332 RPA|REFPROT:NP_004323 DBA|XM:NM_004332 |NA:AJ001980 |NA:AL832502 |NA:X57653 |NA:X81372 PAC|XP:NP_004323 SYM|BPHL NAM|biphenyl hydrolase-like (serine hydrolase; breast epithelial mucin-associated antigen) SYN|MCNAA FNC|biphenyl hydrolase-like |amino acid and derivative metabolism ; GO:0006519 |response to toxin ; GO:0009636 CHR|6 PRD|Bph-rp |valacyclovirase |biphenyl hydrolase-like |breast epithelial mucin-associated antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=351334 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=670[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:638795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004332 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004332 DBL|UNIGENE:Hs.351334 |OMIM:603156 |SNP:670 MAP|6p25 ENZ|hydrolase activity ; GO:0016787 HG|species == Mouse; gene == 2010012D11Rik; score == 469; expect == 6e-133; MEOW:MGgn0018997 (86%) |species == Mosquito; gene == LOC13613; score == 266; expect == 5.1e-72; MEOW:AGgn0013613 (47%) |species == rat; score == 260; expect == 1.3e-70; MEOW:ref|XP_341521.1| (87%) |species == Fruitfly; gene == CG5377; score == 243; expect == 1.1e-64; MEOW:FBgn0038974 (45%) } # EOR GENR { RETE|ID 1 HUgn0000671 CHR 1 20 DID 1 LocusLink:671 MAP 1 20q11.23-q12 NAM 1 bactericidal/permeability-increasing protein ORG 1 Homo sapiens SYM 1 BPI ID|HUgn0000671 DID|LocusLink:671 ORG|Homo sapiens RSQ|REFSEQ:NM_001725 RPA|REFPROT:NP_001716 DBA|XM:NM_001725 |NA:Y14215 |NA:Y14216 |NA:Y14217 |NA:Y14218 |NA:Y14219 |NA:Y14220 |NA:Y14221 |NA:Y14222 |NA:Y14223 |NA:Y14224 |NA:Y14225 |NA:Y14226 |NA:Y14227 |NA:Y14228 |NA:Y14229 |NA:AF322588 |NA:BC032230 |NA:BC040955 |NA:J04739 |NA:none PAC|XP:NP_001716 SYM|BPI NAM|bactericidal/permeability-increasing protein FNC|bactericidal/permeability-increasing protein precursor |xenobiotic metabolism ; GO:0006805 |immune response ; GO:0006955 REAB|The bactericidal permeability increasing protein is a lipopolysaccharide binding |protein. It is associated with human neutrophil granules and has bactericidal activity |on gram-negative organisms. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=303523 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=671[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131572 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001725 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001725 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=303523 DBL|UNIGENE:Hs.303523 |OMIM:109195 |SNP:671 MAP|20q11.23-q12 ENZ|lipid binding ; GO:0008289 |Gram-negative bacterial binding ; GO:0008368 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 540; expect == 9e-154; MEOW:ref|XP_230800.2| (55%) |species == Human; gene == LBP; score == 399; expect == 2e-111; MEOW:HUgn0003929 (45%) |species == Mouse; gene == Lbp; score == 398; expect == 4e-111; MEOW:MGgn0006993 (42%) |species == Weed; gene == At3g20270; score == 143; expect == 3.0e-34; MEOW:ATgn0013082 (24%) } # EOR GENR { RETE|ID 1 HUgn0000672 CHR 1 17 DID 1 LocusLink:672 MAP 1 17q21 NAM 1 breast cancer 1, early onset ORG 1 Homo sapiens SYM 1 BRCA1 ID|HUgn0000672 DID|LocusLink:672 ORG|Homo sapiens RSQ|REFSEQ:NM_007294 |REFSEQ:NM_007295 |REFSEQ:NM_007296 |REFSEQ:NM_007297 |REFSEQ:NM_007298 |REFSEQ:NM_007299 |REFSEQ:NM_007300 |REFSEQ:NM_007301 |REFSEQ:NM_007302 |REFSEQ:NM_007303 |REFSEQ:NM_007304 |REFSEQ:NM_007305 |REFSEQ:NM_007306 RPA|REFPROT:NP_009225 |REFPROT:NP_009226 |REFPROT:NP_009227 |REFPROT:NP_009228 |REFPROT:NP_009229 |REFPROT:NP_009230 |REFPROT:NP_009231 |REFPROT:NP_009232 |REFPROT:NP_009233 |REFPROT:NP_009234 |REFPROT:NP_009235 |REFPROT:NP_009236 |REFPROT:NP_009237 DBA|XM:NM_007294 |XM:NM_007295 |XM:NM_007296 |XM:NM_007297 |XM:NM_007298 |XM:NM_007299 |XM:NM_007300 |XM:NM_007301 |XM:NM_007302 |XM:NM_007303 |XM:NM_007304 |XM:NM_007305 |XM:NM_007306 |NA:L78833 |NA:U15595 |NA:U37574 |NA:AF005068 |NA:U14680 |NA:U64805 |NA:U68041 |NA:none PAC|XP:NP_009225 |XP:NP_009226 |XP:NP_009227 |XP:NP_009228 |XP:NP_009229 |XP:NP_009230 |XP:NP_009231 |XP:NP_009232 |XP:NP_009233 |XP:NP_009234 |XP:NP_009235 |XP:NP_009236 |XP:NP_009237 SYM|BRCA1 NAM|breast cancer 1, early onset SYN|PSCP |RNF53 FNC|breast cancer 1, early onset |breast cancer 1, early onset isoform BRCA1-delta11 |breast cancer 1, early onset isoform BRCA1-delta11b |breast cancer 1, early onset isoform BRCA1-delta14-17 |breast cancer 1, early onset isoform BRCA1-delta14-18 |breast cancer 1, early onset isoform BRCA1-delta15-17 |breast cancer 1, early onset isoform BRCA1-delta2-10 |breast cancer 1, early onset isoform BRCA1-delta9-10 |breast cancer 1, early onset isoform BRCA1-delta9-10-11b |breast cancer 1, early onset isoform BRCA1-delta9-11 |breast cancer 1, early onset isoform BRCA1-exon4 |regulation of DNA repair ; GO:0006282 |response to DNA damage stimulus ; GO:0006974 |DNA repair ; GO:0006281 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|BRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear |phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in |BRCA1 are predicted to be responsible for approximately 45% of inherited breast |cancer and more than 80% of inherited breast and ovarian cancer. BRCA1 may function |as a transcriptional regulator, due to an amino terminal DNA-binding ring finger |motif, nuclear localization signals, and an acidic carboxy terminal domain. BRCA1 |is also a granin-like protein that functions as a secreted growth inhibitory protein. |BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth. |This function is compromised in breast cancer either by direct mutation or by alterations |in gene expression. BRCA1 participates in transcription-coupled repair of oxidative |DNA damage. BRCA1 spans an 81-kb region of human chromosome 17, and consists of |24 exons, 22 of which are coding exons. The BRCA1 genomic sequence has an unusually |high density of Alu repetitive DNA (41.5%), but a relatively low density (4.8%) |of other repetitive sequences. BRCA1 intron lengths ranged in size from 403 bp to |9.2 kb and contain 3 intragenic microsatellite markers located in introns 12, 19, |and 20. Other genes have been localized close to BRCA1 on chromosome 17. The order |of genes on the chromosome is: centromere-IFP35-VAT1-RHO7-BRCA1-M17S2-telomere. |Alternative splicing may play a significant role in modulating the subcellular localization |and physiological function of BRCA1. CHR|17 PRD|breast-ovarian cancer, included URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194143 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=672[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126611 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007295 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007295 |http://www.geneclinics.org/query?mim=113705 |http://www.ncbi.nlm.nih.gov/disease/Breast-ovary.html |http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/ DBL|UNIGENE:Hs.194143 |OMIM:113705 |SNP:672 MAP|17q21 PHP|Breast cancer-1 |Breast-ovarian cancer |Ovarian cancer |Papillary serous carcinoma of the peritoneum ENZ|protein binding ; GO:0005515 |zinc ion binding ; GO:0008270 |tumor suppressor ; GO:0008181 |DNA binding ; GO:0003677 |transcription co-activator activity ; GO:0003713 |DNA repair protein ; GO:0003685 CEL|transcription factor complex ; GO:0005667 |secretory vesicle ; GO:0005803 |extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == chimp; score == 3417; expect == 0.0; MEOW:sp|Q9GKK8|Q9GKK8 (98%) |species == Mouse; gene == Brca1; score == 1833; expect == 0.0; MEOW:MGgn0000868 (55%) |species == rat; score == 1786; expect == 0.0; MEOW:ref|XP_346408.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0000673 CHR 1 7 DID 1 LocusLink:673 MAP 1 7q34 NAM 1 v-raf murine sarcoma viral oncogene homolog B1 ORG 1 Homo sapiens SYM 1 BRAF ID|HUgn0000673 DID|LocusLink:673 ORG|Homo sapiens RSQ|REFSEQ:NM_004333 RPA|REFPROT:NP_004324 DBA|XM:NM_004333 |XM:NM_004333 |NA:AI203435 |NA:AK054801 |NA:BC038966 |NA:BM263585 |NA:M21001 |NA:M95712 |NA:none PAC|XP:NP_004324 |XP:NP_004324 SYM|BRAF NAM|v-raf murine sarcoma viral oncogene homolog B1 SYN|BRAF1 |RAFB1 FNC|v-raf murine sarcoma viral oncogene homolog B1 |anti-apoptosis ; GO:0006916 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |histogenesis and organogenesis ; GO:0007397 |intracellular signaling cascade ; GO:0007242 CHR|7 PRD|Murine sarcoma viral (v-raf) oncogene homolog B1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=162967 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=673[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127513 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004333 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004333 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=162967 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.162967 |OMIM:164757 |SNP:673 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor signaling protein activity ; GO:0005057 |transferase activity ; GO:0016740 |diacylglycerol binding ; GO:0019992 MAP|7q34 PHP|Adenocarcinoma of lung, somatic |Colorectal cancer, somatic |Melanoma, melignant, somatic |Nonsmall cell lung cancer, somatic HG|species == Human; gene == BRAF2; score == 1115; expect == 0.0; MEOW:HUgn0286494 (87%) |species == rat; score == 686; expect == 0.0; MEOW:ref|NP_036771.1| (58%) |species == Mouse; gene == Raf1; score == 679; expect == 0.0; MEOW:MGgn0009709 (56%) |species == rat; score == 666; expect == 0.0; MEOW:ref|NP_071977.1| (57%) |species == Mouse; gene == Araf; score == 665; expect == 0.0; MEOW:MGgn0000487 (58%) |species == Mosquito; score == 583; expect == 9e-167; MEOW:AGgn0003633 (47%) |species == rat; score == 559; expect == 1e-159; MEOW:ref|XP_231692.2| (98%) |species == Fruitfly; gene == phl; score == 547; expect == 1e-155; MEOW:FBgn0003079 (42%) |species == Zfish; gene == craf; score == 473; expect == 1e-134; MEOW:ZFgn0000251 (77%) |species == Worm; gene == lin-45; score == 363; expect == 3e-100; MEOW:CEgn0001861 (54%) |species == rice; score == 186; expect == 2.5e-47; MEOW:gnl|TIGR|8357.m03093 (36%) |species == Weed; gene == At2g17700; score == 175; expect == 6.7e-44; MEOW:ATgn0028393 (35%) |species == Weed; gene == At4g35780; score == 172; expect == 6.4e-43; MEOW:ATgn0017130 (35%) |species == Weed; gene == At4g38470; score == 172; expect == 8.4e-43; MEOW:ATgn0020261 (36%) |species == rice; score == 170; expect == 5.4e-42; MEOW:gnl|TIGR|8359.m03563 (37%) |species == Weed; gene == At1g67890; score == 168; expect == 9.3e-42; MEOW:ATgn0006424 (35%) |species == Weed; gene == At1g73660; score == 168; expect == 9.3e-42; MEOW:ATgn0006971 (37%) |species == Weed; gene == At5g49470; score == 168; expect == 1.2e-41; MEOW:ATgn0022825 (35%) |species == Weed; gene == At5g03730; score == 167; expect == 1.7e-41; MEOW:ATgn0024018 (31%) |species == Weed; gene == At3g06640; score == 166; expect == 3.5e-41; MEOW:ATgn0016813 (37%) |species == rice; score == 166; expect == 5.3e-41; MEOW:gnl|TIGR|8351.m04858 (34%) |species == rice; score == 163; expect == 5.0e-40; MEOW:gnl|TIGR|8357.m03295 (39%) |species == Weed; gene == At3g06620; score == 162; expect == 8.7e-40; MEOW:ATgn0016803 (36%) |species == rice; score == 161; expect == 4.3e-39; MEOW:gnl|TIGR|8355.m02702 (36%) |species == rice; score == 160; expect == 1.2e-39; MEOW:gnl|TIGR|8356.m01204 (34%) |species == Weed; gene == At1g18160; score == 159; expect == 5.6e-39; MEOW:ATgn0006749 (34%) |species == rice; score == 159; expect == 1.2e-38; MEOW:gnl|TIGR|8351.m03037 (42%) |species == rice; score == 159; expect == 5.9e-39; MEOW:gnl|TIGR|8360.m00536 (34%) |species == rice; score == 158; expect == 2.1e-38; MEOW:gnl|TIGR|8352.m04814 (34%) |species == Weed; gene == At3g06630; score == 157; expect == 1.4e-38; MEOW:ATgn0016805 (41%) |species == rice; score == 157; expect == 1.8e-38; MEOW:gnl|TIGR|8351.m01110 (39%) |species == rice; score == 154; expect == 6.8e-38; MEOW:gnl|TIGR|8351.m00694 (34%) |species == rice; score == 153; expect == 2.3e-37; MEOW:gnl|TIGR|8359.m00564 (34%) |species == Weed; gene == At5g11850; score == 152; expect == 1.1e-36; MEOW:ATgn0025217 (33%) |species == Weed; gene == At1g08720; score == 151; expect == 1.5e-36; MEOW:ATgn0002835 (35%) |species == Weed; gene == At4g23050; score == 151; expect == 1.1e-36; MEOW:ATgn0017830 (30%) |species == Weed; gene == At5g58950; score == 147; expect == 1.1e-35; MEOW:ATgn0025768 (31%) |species == Weed; gene == At4g24480; score == 146; expect == 8.3e-35; MEOW:ATgn0019053 (31%) |species == Weed; gene == At3g46930; score == 142; expect == 4.1e-34; MEOW:ATgn0013558 (31%) |species == Weed; gene == At3g27560; score == 141; expect == 6.3e-34; MEOW:ATgn0013052 (31%) |species == Weed; gene == At5g66710; score == 141; expect == 7.4e-34; MEOW:ATgn0025698 (34%) } # EOR GENR { RETE|ID 1 HUgn0000674 CHR 1 7 DID 1 LocusLink:674 MAP 1 7q34 NAM 1 v-raf murine sarcoma viral oncogene homolog B1 pseudogene 1 ORG 1 Homo sapiens SYM 1 BRAFPS1 ID|HUgn0000674 DID|LocusLink:674 CLA|Pseudogene ORG|Homo sapiens SYM|BRAFPS1 NAM|v-raf murine sarcoma viral oncogene homolog B1 pseudogene 1 SYN|BRAFP CHR|7 MAP|7q34 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132641 } # EOR GENR { RETE|ID 1 HUgn0000675 CHR 1 13 DID 1 LocusLink:675 MAP 1 13q12.3 NAM 1 breast cancer 2, early onset ORG 1 Homo sapiens SYM 1 BRCA2 ID|HUgn0000675 DID|LocusLink:675 ORG|Homo sapiens RSQ|REFSEQ:NM_000059 RPA|REFPROT:NP_000050 DBA|XM:NM_000059 |NA:X95152 |NA:Z73359 |NA:Z74739 |NA:U43746 |NA:none PAC|XP:NP_000050 SYM|BRCA2 NAM|breast cancer 2, early onset SYN|FAD |FAD1 |FANCB |FANCD1 FNC|breast cancer 2, early onset |mitotic checkpoint ; GO:0007093 |establishment and/or maintenance of chromatin architecture ; GO:0006325 |chromatin modeling ; GO:0006338 |regulation of cell cycle ; GO:0000074 |regulation of S phase of mitotic cell cycle ; GO:0007090 |regulation of transcription ; GO:0045449 |double-strand break repair via homologous recombination ; GO:0000724 REAB|Mutations in BRCA1 and BRCA2 have been linked to an elevated risk of young onset |breast cancer which has been demonstrated to be due to the inheritance of dominant |susceptibility genes conferring a high risk of the disease. Unlike BRCA1, BRCA2 |has not been linked to ovarian cancer. While BRCA1 mutations are typically microinsertions |and point mutations, BRCA2 mutations are typically microdeletions. BRCA2 putatively |functions as a tumor suppressor gene, however, its exact function has not been well |characterized. The similarity of, and functional analysis of, BRCA2 and BRCA1 proteins, |suggests that these proteins function in the same genetic pathway. BRCA1 and BRCA2 |have transcriptional activation potential and the two proteins are associated with |the activation of double-strand break repair and/or homologous recombination. The |two proteins have been shown to coexist and colocalize in a biochemical complex. CHR|13 PRD|Fanconi anemia, complementation group D1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=34012 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=675[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:387848 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000059 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000059 |http://www.geneclinics.org/query?mim=600185 |http://www.geneclinics.org/query?mim=605724 |http://www.ncbi.nlm.nih.gov/disease/Breast-ovary.html |http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/ DBL|UNIGENE:Hs.34012 |OMIM:600185 |SNP:675 MAP|13q12.3 PHP|Breast cancer 2, early onset |Breast cancer, male, susceptibility to |Fanconi anemia, complementation group B |Fanconi anemia, complementation group D1 |Pancreatic cancer |Prostate cancer ENZ|protein binding ; GO:0005515 |single-stranded DNA binding ; GO:0003697 |transcription co-activator activity ; GO:0003713 CEL|extracellular space ; GO:0005615 |nucleus ; GO:0005634 |secretory granule ; GO:0030141 HG|species == rat; score == 3288; expect == 0.0; MEOW:ref|XP_346423.1| (56%) |species == Mouse; gene == Brca2; score == 3233; expect == 0.0; MEOW:MGgn0000869 (57%) |species == chimp; score == 3177; expect == 0.0; MEOW:sp|Q8HZQ1|Q8HZQ1 (99%) |species == Weed; gene == At5g01630; score == 174; expect == 2.6e-43; MEOW:ATgn0022204 (27%) |species == rice; score == 165; expect == 1.5e-40; MEOW:gnl|TIGR|8350.m07027 (30%) } # EOR GENR { RETE|ID 1 HUgn0000676 CHR 1 1 DID 1 LocusLink:676 MAP 1 1p22.1 NAM 1 bromodomain, testis-specific ORG 1 Homo sapiens SYM 1 BRDT ID|HUgn0000676 DID|LocusLink:676 ORG|Homo sapiens RSQ|REFSEQ:NM_001726 RPA|REFPROT:NP_001717 DBA|XM:NM_001726 |NA:AF019085 |NA:AY338951 |NA:BC038844 |NA:BC047900 |NA:BX648135 PAC|XP:NP_001717 SYM|BRDT NAM|bromodomain, testis-specific SYN|BRD6 FNC|testis-specific bromodomain protein REAB|BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and |a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), |characteristic of proteins that undergo rapid intracellular degradation. The bromodomain |is found in proteins that regulate transcription. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=178281 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=676[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6775239 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001726 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001726 DBL|UNIGENE:Hs.178281 |OMIM:602144 |SNP:676 MAP|1p22.1 ENZ|protein serine/threonine kinase activity ; GO:0004674 |transcription co-activator activity ; GO:0003713 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fsrg3; score == 1173; expect == 0.0; MEOW:MGgn0039718 (70%) |species == rat; score == 1110; expect == 0.0; MEOW:ref|XP_223146.2| (67%) |species == Human; gene == BRD3; score == 563; expect == 2e-160; MEOW:HUgn0008019 (50%) |species == Human; gene == BRD2; score == 539; expect == 3e-153; MEOW:HUgn0006046 (47%) |species == Human; gene == BRD4; score == 524; expect == 1e-148; MEOW:HUgn0023476 (48%) |species == Mosquito; score == 471; expect == 5e-133; MEOW:AGgn0016848 (42%) |species == Worm; gene == Y119C1B.8a; score == 243; expect == 2.0e-64; MEOW:CEgn0032871 (29%) |species == Worm; gene == Y119C1B.8b; score == 243; expect == 2.0e-64; MEOW:CEgn0032872 (29%) |species == Worm; gene == F57C7.1a; score == 197; expect == 2.1e-50; MEOW:CEgn0012227 (30%) |species == Fruitfly; gene == fs(1)h; score == 186; expect == 2.4e-47; MEOW:FBgn0004656 (40%) } # EOR GENR { RETE|ID 1 HUgn0000677 CHR 1 14 DID 1 LocusLink:677 MAP 1 14q22-q24 NAM 1 zinc finger protein 36, C3H type-like 1 ORG 1 Homo sapiens SYM 1 ZFP36L1 ID|HUgn0000677 DID|LocusLink:677 ORG|Homo sapiens RSQ|REFSEQ:NM_004926 RPA|REFPROT:NP_004917 DBA|XM:NM_004926 |NA:BC018340 |NA:X79066 |NA:X79067 |NA:X99404 |NA:none PAC|XP:NP_004917 SYM|ZFP36L1 NAM|zinc finger protein 36, C3H type-like 1 SYN|BRF1 |ERF1 |cMG1 |ERF-1 |Berg36 |TIS11B FNC|butyrate response factor 1 REAB|This gene is a member of the TIS11 family of early response genes. Family members |are induced by various agonists such as the phorbol ester TPA and the polypeptide |mitogen EGF. The gene is well conserved across species and has a promoter that contains |motifs seen in other early-response genes. The encoded protein contains a distinguishing |putative zinc finger domain with a repeating cys-his motif. This putative nuclear |transcription factor most likely functions in regulating the response to growth |factors. CHR|14 PRD|EGF-response factor 1 |early response factor Berg36 |zinc finger protein, C3H type, 36-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=85155 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=677[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:221586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004926 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004926 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=85155 DBL|UNIGENE:Hs.85155 |OMIM:601064 |SNP:677 MAP|14q22-q24 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Zfp36l1; score == 532; expect == 1e-151; MEOW:MGgn0000871 (98%) |species == rat; score == 531; expect == 2e-151; MEOW:ref|NP_058868.1| (98%) |species == Human; gene == ZFP36L2; score == 199; expect == 2.9e-51; MEOW:HUgn0000678 (45%) |species == Mosquito; gene == LOC12577; score == 160; expect == 1.5e-39; MEOW:AGgn0012577 (74%) |species == Fruitfly; gene == Tis11; score == 149; expect == 1.3e-36; MEOW:FBgn0011837 (69%) } # EOR GENR { RETE|ID 1 HUgn0000678 CHR 1 2 DID 1 LocusLink:678 MAP 1 2p22.3-p21 NAM 1 zinc finger protein 36, C3H type-like 2 ORG 1 Homo sapiens SYM 1 ZFP36L2 ID|HUgn0000678 DID|LocusLink:678 ORG|Homo sapiens RSQ|REFSEQ:NM_006887 RPA|REFPROT:NP_008818 DBA|XM:NM_006887 |NA:U07802 |NA:BC005010 |NA:BC020369 |NA:BE222042 |NA:BI489986 |NA:BI548620 |NA:X78992 |NA:none PAC|XP:NP_008818 SYM|ZFP36L2 NAM|zinc finger protein 36, C3H type-like 2 SYN|BRF2 |ERF2 |ERF-2 |TIS11D FNC|butyrate response factor 2 |cell proliferation ; GO:0008283 REAB|This gene is a member of the TIS11 family of early response genes. Family members |are induced by various agonists such as the phorbol ester TPA and the polypeptide |mitogen EGF. The encoded protein contains a distinguishing putative zinc finger |domain with a repeating cys-his motif. This putative nuclear transcription factor |most likely functions in regulating the response to growth factors. CHR|2 PRD|EGF-response factor 2 |zinc finger protein, C3H type, 36-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78909 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=678[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:511261 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006887 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006887 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78909 DBL|UNIGENE:Hs.78909 |SNP:678 MAP|2p22.3-p21 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 487; expect == 5e-138; MEOW:ref|XP_238444.2| (93%) |species == Mouse; gene == Zfp36l2; score == 434; expect == 4e-122; MEOW:MGgn0000872 (80%) |species == Human; gene == ZFP36L1; score == 199; expect == 2.9e-51; MEOW:HUgn0000677 (45%) |species == Mosquito; gene == LOC12577; score == 148; expect == 4.4e-36; MEOW:AGgn0012577 (70%) |species == Fruitfly; gene == Tis11; score == 148; expect == 3.5e-36; MEOW:FBgn0011837 (74%) } # EOR GENR { RETE|ID 1 HUgn0000680 CHR 1 X DID 1 LocusLink:680 MAP 1 Xq26-q28 NAM 1 bombesin-like receptor 3 ORG 1 Homo sapiens SYM 1 BRS3 ID|HUgn0000680 DID|LocusLink:680 ORG|Homo sapiens RSQ|REFSEQ:NM_001727 RPA|REFPROT:NP_001718 DBA|XM:NM_001727 |NA:X76498 |NA:L08893 |NA:none PAC|XP:NP_001718 SYM|BRS3 NAM|bombesin-like receptor 3 FNC|bombesin-like receptor 3 |adult feeding behavior ; GO:0008343 |regulation of blood pressure ; GO:0008217 |response to nutrients ; GO:0007584 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |glucose metabolism ; GO:0006006 |smooth muscle contraction ; GO:0006939 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121484 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=680[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138468 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001727 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001727 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25427 DBL|UNIGENE:Hs.121484 |OMIM:300107 |SNP:680 MAP|Xq26-q28 ENZ|bombesin receptor activity ; GO:0004946 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 695; expect == 0.0; MEOW:ref|NP_690058.1| (86%) |species == Mouse; gene == Brs3; score == 684; expect == 0.0; MEOW:MGgn0000888 (85%) |species == Human; gene == GRPR; score == 384; expect == 4e-107; MEOW:HUgn0002925 (60%) |species == Human; gene == NMBR; score == 350; expect == 6.0e-97; MEOW:HUgn0004829 (49%) |species == Fruitfly; gene == CG14593; score == 208; expect == 3.7e-54; MEOW:FBgn0033058 (36%) |species == Fruitfly; gene == CG30106; score == 200; expect == 7.7e-52; MEOW:FBgn0050106 (38%) |species == Mosquito; gene == LOC14481; score == 169; expect == 1.4e-42; MEOW:AGgn0014481 (38%) |species == Zfish; gene == ednrb1; score == 165; expect == 1.9e-42; MEOW:ZFgn0000027 (30%) |species == Mosquito; gene == LOC16187; score == 149; expect == 2.0e-36; MEOW:AGgn0016187 (32%) |species == Zfish; gene == npyryc; score == 140; expect == 8.4e-35; MEOW:ZFgn0000428 (26%) |species == Zfish; gene == npyryb; score == 138; expect == 3.2e-34; MEOW:ZFgn0000048 (26%) |species == Worm; gene == ZK455.3; score == 137; expect == 5.5e-33; MEOW:CEgn0020959 (29%) |species == Zfish; gene == oprm1; score == 134; expect == 6.1e-33; MEOW:ZFgn0002044 (30%) } # EOR GENR { RETE|ID 1 HUgn0000681 DID 1 LocusLink:681 NAM 1 Berardinelli-Seip congenital lipodystrophy ORG 1 Homo sapiens SYM 1 BSCL ID|HUgn0000681 DID|LocusLink:681 ORG|Homo sapiens SYM|BSCL NAM|Berardinelli-Seip congenital lipodystrophy REAB|Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal |recessive disease characterized by a near absence of adipose tissue from birth or |early infancy and severe insulin resistance. Other clinical and biologic features |include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, |altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.[supplied |by OMIM] PRD|Berardinelli-Seip congenital lipodsytrophy DBL|OMIM:269700 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9957720 |http://www.geneclinics.org/query?mim=269700 } # EOR GENR { RETE|ID 1 HUgn0000682 CHR 1 19 DID 1 LocusLink:682 MAP 1 19p13.3 NAM 1 basigin (OK blood group) ORG 1 Homo sapiens SYM 1 BSG ID|HUgn0000682 DID|LocusLink:682 ORG|Homo sapiens RSQ|REFSEQ:NM_001728 |REFSEQ:NM_198589 |REFSEQ:NM_198590 |REFSEQ:NM_198591 RPA|REFPROT:NP_001719 |REFPROT:NP_940991 |REFPROT:NP_940992 |REFPROT:NP_940993 DBA|XM:NM_001728 |NA:AC005559 |NA:AB072923 |NA:AB085790 |NA:AB091680 |NA:AF548371 |NA:AK095912 |NA:AY358113 |NA:BC009040 |NA:BG480530 |NA:BI464857 |NA:BU501595 |NA:CB153773 |NA:D45131 |NA:L10240 |NA:L20471 |NA:M87879 |NA:X64364 |NA:none PAC|XP:NP_001719 SYM|BSG NAM|basigin (OK blood group) SYN|M6 |OK |5F7 |TCSF |CD147 |EMMPRIN FNC|basigin isoform 1 |basigin isoform 2 |basigin isoform 3 |basigin isoform 4 CHR|19 PRD|emmprin |M6 antigen |OK blood group |collagenase stimulatory factor |extracellular matrix metalloproteinase inducer URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=501293 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=682[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001728 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001728 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=501293 |http://www.geneclinics.org/query?mim=166220 DBL|UNIGENE:Hs.501293 |OMIM:109480 |SNP:682 |PROW:1397527348 MAP|19p13.3 PHP|Blood group, OK HG|species == rat; score == 315; expect == 2.2e-86; MEOW:ref|NP_036915.1| (58%) |species == Mouse; gene == Bsg; score == 311; expect == 2.0e-85; MEOW:MGgn0000893 (58%) |species == Human; gene == SDFR1; score == 176; expect == 9.1e-45; MEOW:HUgn0027020 (40%) } # EOR GENR { RETE|ID 1 HUgn0000683 CHR 1 4 DID 1 LocusLink:683 MAP 1 4p15 NAM 1 bone marrow stromal cell antigen 1 ORG 1 Homo sapiens SYM 1 BST1 ID|HUgn0000683 DID|LocusLink:683 ORG|Homo sapiens RSQ|REFSEQ:NM_004334 RPA|REFPROT:NP_004325 DBA|XM:NM_004334 |NA:BC012095 |NA:D21878 |NA:none PAC|XP:NP_004325 SYM|BST1 NAM|bone marrow stromal cell antigen 1 SYN|CD157 FNC|bone marrow stromal cell antigen 1 precursor |humoral immune response ; GO:0006959 |development ; GO:0007275 REAB|Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored |molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits |33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell |lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities |in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression |in the stromal cell population. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169998 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=683[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:374180 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004334 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004334 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169998 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.169998 |OMIM:600387 |SNP:683 |PROW:1340226072 MAP|4p15 ENZ|GPI-anchored membrane-bound receptor ; GO:0015025 |NAD nucleosidase activity ; GO:0003953 |hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Bst1; score == 438; expect == 1e-123; MEOW:MGgn0000860 (73%) |species == rat; score == 186; expect == 1.0e-47; MEOW:ref|NP_037259.1| (37%) |species == rat; score == 179; expect == 1.4e-45; MEOW:ref|XP_346464.1| (66%) |species == Human; gene == CD38; score == 178; expect == 3.6e-45; MEOW:HUgn0000952 (36%) } # EOR GENR { RETE|ID 1 HUgn0000684 CHR 1 19 DID 1 LocusLink:684 MAP 1 19p13.2 NAM 1 bone marrow stromal cell antigen 2 ORG 1 Homo sapiens SYM 1 BST2 ID|HUgn0000684 DID|LocusLink:684 ORG|Homo sapiens RSQ|REFSEQ:NM_004335 RPA|REFPROT:NP_004326 DBA|XM:NM_004335 |NA:BC033873 |NA:D28137 |NA:none PAC|XP:NP_004326 SYM|BST2 NAM|bone marrow stromal cell antigen 2 FNC|bone marrow stromal cell antigen 2 |humoral immune response ; GO:0006959 |development ; GO:0007275 |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 REAB|Bone marrow stromal cells are involved in the growth and development of B-cells. |The specific function of the protein encoded by the bone marrow stromal cell antigen |2 is undetermined; however, this protein may play a role in pre-B-cell growth and |in rheumatoid arthritis. CHR|19 PRD|Bone marrow stromal cell antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118110 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=684[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:409946 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004335 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004335 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25436 DBL|UNIGENE:Hs.118110 |OMIM:600534 |SNP:684 MAP|19p13.2 CEL|integral to plasma membrane ; GO:0005887 } # EOR GENR { RETE|ID 1 HUgn0000685 CHR 1 4 DID 1 LocusLink:685 MAP 1 4q13-q21 NAM 1 betacellulin ORG 1 Homo sapiens SYM 1 BTC ID|HUgn0000685 DID|LocusLink:685 ORG|Homo sapiens RSQ|REFSEQ:NM_001729 RPA|REFPROT:NP_001720 DBA|XM:NM_001729 |NA:BC011618 |NA:S55606 |NA:none PAC|XP:NP_001720 SYM|BTC NAM|betacellulin FNC|betacellulin |positive regulation of cell proliferation ; GO:0008284 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 REAB|BTC is a member of the mammalian members of the EGF family of growth factors. It |is synthesized primarily as a transmembrane precursor, which is then processed to |mature molecule by proteolytic events. Betacellulin is a ligand for the EGF receptor. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73105 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=685[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001729 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001729 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73105 DBL|UNIGENE:Hs.73105 |OMIM:600345 |SNP:685 MAP|4q13-q21 ENZ|epidermal growth factor receptor binding ; GO:0005154 |growth factor activity ; GO:0008083 CEL|soluble fraction ; GO:0005625 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Btc; score == 239; expect == 3.9e-64; MEOW:MGgn0000901 (78%) |species == rat; score == 238; expect == 1.3e-63; MEOW:ref|NP_071592.1| (75%) } # EOR GENR { RETE|ID 1 HUgn0000686 CHR 1 3 DID 1 LocusLink:686 MAP 1 3p25 NAM 1 biotinidase ORG 1 Homo sapiens SYM 1 BTD ID|HUgn0000686 DID|LocusLink:686 ORG|Homo sapiens RSQ|REFSEQ:NM_000060 RPA|REFPROT:NP_000051 DBA|XM:NM_000060 |NA:AF018631 |NA:BC012099 |NA:U03274 |NA:none PAC|XP:NP_000051 SYM|BTD NAM|biotinidase FNC|biotinidase precursor |epidermal differentiation ; GO:0008544 |biotin metabolism ; GO:0006768 |central nervous system development ; GO:0007417 |nitrogen metabolism ; GO:0006807 REAB|Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), |a normal product of carboxylase degradation, resulting in regeneration of free biotin. |Biotinidase has also been shown to have biotinyl-transferase activity. Defects in |the biotinidase gene cause multiple carboxylase deficiency CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78885 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=686[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:309078 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000060 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000060 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78885 |http://www.geneclinics.org/query?mim=253260 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00780 DBL|UNIGENE:Hs.78885 |OMIM:253260 |SNP:686 ENZ|EC:3.5.1.12 |biotin carboxylase activity ; GO:0004075 |hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds ; GO:0016810 |biotinidase activity ; GO:0047708 MAP|3p25 PHP|Biotinidase deficiency HG|species == Mouse; gene == Btd; score == 953; expect == 0.0; MEOW:MGgn0000902 (84%) |species == rat; score == 885; expect == 0.0; MEOW:ref|XP_224619.2| (78%) |species == Human; gene == VNN1; score == 386; expect == 2e-107; MEOW:HUgn0008876 (42%) |species == Human; gene == VNN3; score == 370; expect == 7e-103; MEOW:HUgn0055350 (41%) |species == Human; gene == VNN2; score == 358; expect == 4.0e-99; MEOW:HUgn0008875 (39%) |species == Fruitfly; gene == vanin-like; score == 162; expect == 2.0e-40; MEOW:FBgn0040069 (28%) |species == Fruitfly; gene == CG32751; score == 159; expect == 2.9e-39; MEOW:FBgn0052751 (27%) |species == Fruitfly; gene == CG3599; score == 148; expect == 5.1e-36; MEOW:FBgn0029848 (29%) |species == Mosquito; score == 132; expect == 2.8e-31; MEOW:AGgn0018472 (28%) } # EOR GENR { RETE|ID 1 HUgn0000687 CHR 1 9 DID 1 LocusLink:687 MAP 1 9q13 NAM 1 basic transcription element binding protein 1 ORG 1 Homo sapiens SYM 1 BTEB1 ID|HUgn0000687 DID|LocusLink:687 ORG|Homo sapiens RSQ|REFSEQ:NM_001206 RPA|REFPROT:NP_001197 DBA|XM:NM_001206 |NA:D31716 |NA:S72504 |NA:none PAC|XP:NP_001197 SYM|BTEB1 NAM|basic transcription element binding protein 1 SYN|BTEB |KLF9 FNC|basic transcription element binding protein 1 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|Basic transcription element binding protein 1 (BTEB1) is a transcription factor that |binds to GC box elements located in the promoter. Binding of BTEB1 to a single |GC box inhibits mRNA expression while BTEB1 binding to tandemly repeated GC box |elements activates transcription. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=687[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141537 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001206 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001206 DBL|UNIGENE:Hs.150557 |OMIM:602902 |SNP:687 MAP|9q13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Bteb1; score == 469; expect == 4e-133; MEOW:MGgn0006785 (96%) |species == rat; score == 469; expect == 4e-133; MEOW:ref|NP_476559.1| (96%) |species == Human; gene == KLF13; score == 201; expect == 3.0e-52; MEOW:HUgn0051621 (42%) |species == Human; gene == KLF14; score == 162; expect == 1.2e-40; MEOW:HUgn0136259 (62%) |species == Human; gene == KLF16; score == 161; expect == 4.4e-40; MEOW:HUgn0083855 (62%) |species == Mosquito; gene == LOC14825; score == 140; expect == 4.6e-34; MEOW:AGgn0014825 (55%) |species == Mosquito; gene == LOC14593; score == 139; expect == 3.3e-33; MEOW:AGgn0014593 (68%) |species == Fruitfly; gene == Sp1; score == 139; expect == 1.1e-33; MEOW:FBgn0020378 (67%) |species == Mosquito; gene == LOC22566; score == 137; expect == 2.3e-33; MEOW:AGgn0022566 (56%) |species == Fruitfly; gene == EP2237; score == 137; expect == 2.4e-33; MEOW:FBgn0043364 (57%) |species == Fruitfly; gene == CG5669; score == 133; expect == 4.5e-32; MEOW:FBgn0039169 (64%) |species == Worm; gene == F53F8.1; score == 132; expect == 9.1e-32; MEOW:CEgn0011652 (55%) |species == Fruitfly; gene == CG9895; score == 132; expect == 1.3e-31; MEOW:FBgn0034810 (65%) |species == Fruitfly; gene == CG12029; score == 131; expect == 2.9e-31; MEOW:FBgn0035454 (63%) |species == Mosquito; gene == LOC2471; score == 130; expect == 4.8e-31; MEOW:AGgn0002471 (63%) |species == Zfish; gene == klf2a; score == 129; expect == 1.0e-31; MEOW:ZFgn0002338 (63%) |species == Zfish; gene == klf2b; score == 129; expect == 6.1e-32; MEOW:ZFgn0002339 (55%) |species == Zfish; gene == klf12; score == 128; expect == 1.8e-31; MEOW:ZFgn0002340 (63%) |species == Zfish; gene == klf4; score == 127; expect == 2.3e-31; MEOW:ZFgn0002019 (63%) } # EOR GENR { RETE|ID 1 HUgn0000688 CHR 1 13 DID 1 LocusLink:688 MAP 1 13q21.33 NAM 1 Kruppel-like factor 5 (intestinal) ORG 1 Homo sapiens SYM 1 KLF5 ID|HUgn0000688 DID|LocusLink:688 ORG|Homo sapiens RSQ|REFSEQ:NM_001730 RPA|REFPROT:NP_001721 DBA|XM:NM_001730 |NA:AF184924 |NA:AB030824 |NA:AF132818 |NA:AF287272 |NA:BC007695 |NA:BC014302 |NA:BC042131 |NA:BT006641 |NA:D14520 |NA:none PAC|XP:NP_001721 SYM|KLF5 NAM|Kruppel-like factor 5 (intestinal) SYN|CKLF |IKLF |BTEB2 FNC|Kruppel-like factor 5 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. |Since the protein localizes to the nucleus and binds the epidermal growth factor |response element, it is thought to be a transcription factor. CHR|13 PRD|GC box binding protein 2 |colon kruppel-like factor |transcription factor BTEB2 |intestinal-enriched kruppel-like factor |basic transcription element binding protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=84728 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=688[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141538 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001730 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001730 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=84728 DBL|UNIGENE:Hs.84728 |OMIM:602903 |SNP:688 MAP|13q21.33 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Klf5; score == 758; expect == 0.0; MEOW:MGgn0000903 (87%) |species == rat; score == 403; expect == 3e-113; MEOW:ref|NP_445846.1| (93%) |species == Fruitfly; gene == CG12029; score == 190; expect == 7.3e-49; MEOW:FBgn0035454 (79%) |species == Mosquito; gene == LOC2471; score == 188; expect == 2.6e-48; MEOW:AGgn0002471 (83%) |species == Human; gene == KLF12; score == 180; expect == 1.4e-45; MEOW:HUgn0011278 (68%) |species == Human; gene == KLF3; score == 178; expect == 4.4e-45; MEOW:HUgn0051274 (59%) |species == Fruitfly; gene == Klf; score == 172; expect == 1.6e-43; MEOW:FBgn0040765 (73%) |species == Mosquito; score == 171; expect == 5.7e-43; MEOW:AGgn0015135 (82%) |species == Human; gene == KLF7; score == 170; expect == 1.0e-42; MEOW:HUgn0008609 (82%) |species == Zfish; gene == klfd; score == 170; expect == 1.3e-42; MEOW:ZFgn0000185 (48%) |species == Zfish; gene == klf12; score == 170; expect == 1.1e-42; MEOW:ZFgn0002340 (74%) |species == Human; gene == KLF8; score == 169; expect == 2.3e-42; MEOW:HUgn0011279 (78%) |species == Worm; gene == F56F11.3; score == 166; expect == 2.3e-41; MEOW:CEgn0012147 (64%) |species == Human; gene == COPEB; score == 166; expect == 1.0e-41; MEOW:HUgn0001316 (75%) |species == Mosquito; gene == LOC15582; score == 165; expect == 3.1e-41; MEOW:AGgn0015582 (83%) |species == Fruitfly; gene == CG9895; score == 165; expect == 2.5e-41; MEOW:FBgn0034810 (80%) |species == Human; gene == KLF4; score == 164; expect == 1.3e-40; MEOW:HUgn0009314 (43%) |species == Human; gene == KLF2; score == 164; expect == 7.3e-41; MEOW:HUgn0010365 (58%) |species == Zfish; gene == klf4; score == 164; expect == 6.3e-41; MEOW:ZFgn0002019 (34%) |species == Zfish; gene == klf2b; score == 164; expect == 7.1e-41; MEOW:ZFgn0002339 (44%) |species == Human; gene == KLF1; score == 162; expect == 2.7e-40; MEOW:HUgn0010661 (78%) |species == Worm; gene == F53F8.1; score == 161; expect == 5.6e-40; MEOW:CEgn0011652 (65%) |species == Zfish; gene == klf2a; score == 156; expect == 1.3e-39; MEOW:ZFgn0002338 (59%) |species == Worm; gene == mua-1; score == 152; expect == 2.2e-37; MEOW:CEgn0002108 (39%) |species == Human; gene == KLF15; score == 147; expect == 1.1e-35; MEOW:HUgn0028999 (64%) |species == Human; gene == TIEG2; score == 144; expect == 1.2e-34; MEOW:HUgn0008462 (51%) } # EOR GENR { RETE|ID 1 HUgn0000689 CHR 1 5 DID 1 LocusLink:689 MAP 1 5q13.3 NAM 1 basic transcription factor 3 ORG 1 Homo sapiens SYM 1 BTF3 ID|HUgn0000689 DID|LocusLink:689 ORG|Homo sapiens RSQ|REFSEQ:NM_001207 RPA|REFPROT:NP_001198 DBA|XM:NM_001207 |NA:M90352 |NA:M90357 |NA:AB062126 |NA:BC008062 |NA:X53280 |NA:X74070 |NA:none PAC|XP:NP_001198 SYM|BTF3 NAM|basic transcription factor 3 SYN|BTF3a |BTF3b FNC|basic transcription factor 3 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=689[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135165 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001207 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001207 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446567 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25445 DBL|UNIGENE:Hs.446567 |OMIM:602542 |SNP:689 MAP|5q13.3 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 286; expect == 3.4e-78; MEOW:ref|XP_215460.1| (100%) |species == rat; score == 282; expect == 4.9e-77; MEOW:ref|XP_222967.2| (96%) |species == rat; score == 273; expect == 3.0e-74; MEOW:ref|XP_235543.2| (93%) |species == rat; score == 261; expect == 1.2e-70; MEOW:ref|XP_220529.2| (92%) |species == rat; score == 251; expect == 1.5e-67; MEOW:ref|XP_226217.2| (85%) |species == Human; gene == LOC345829; score == 246; expect == 5.0e-66; MEOW:HUgn0345829 (88%) |species == Human; gene == LOC132556; score == 245; expect == 1.9e-65; MEOW:HUgn0132556 (89%) |species == rat; score == 243; expect == 2.5e-65; MEOW:ref|XP_235669.2| (84%) |species == Human; gene == MGC23908; score == 225; expect == 7.1e-60; MEOW:HUgn0091408 (79%) |species == Human; gene == LOC376601; score == 225; expect == 7.1e-60; MEOW:HUgn0376601 (79%) |species == Mouse; gene == 5730434I03Rik; score == 225; expect == 4.8e-60; MEOW:MGgn0025837 (79%) |species == Worm; gene == C56C10.8; score == 190; expect == 3.3e-49; MEOW:CEgn0007204 (65%) |species == Mosquito; score == 173; expect == 1.9e-44; MEOW:AGgn0011509 (58%) |species == Fruitfly; gene == bic; score == 167; expect == 1.4e-42; MEOW:FBgn0000181 (63%) |species == Fruitfly; gene == CG11835; score == 163; expect == 2.6e-41; MEOW:FBgn0031264 (60%) |species == rice; score == 162; expect == 4.0e-40; MEOW:gnl|TIGR|8360.m00089 (56%) |species == rice; score == 146; expect == 1.1e-35; MEOW:gnl|TIGR|8362.m02648 (57%) |species == Weed; gene == At1g17880; score == 144; expect == 2.7e-35; MEOW:ATgn0006639 (55%) |species == Weed; gene == At1g73230; score == 142; expect == 7.9e-35; MEOW:ATgn0005252 (57%) |species == rice; score == 142; expect == 1.3e-34; MEOW:gnl|TIGR|8360.m05752 (56%) } # EOR GENR { RETE|ID 1 HUgn0000690 CHR 1 13 DID 1 LocusLink:690 MAP 1 13q22 NAM 1 basic transcription factor 3, like 1 ORG 1 Homo sapiens SYM 1 BTF3L1 ID|HUgn0000690 DID|LocusLink:690 ORG|Homo sapiens RSQ|REFSEQ:NM_001208 RPA|REFPROT:NP_001199 DBA|XM:NM_001208 |NA:M90354 |NA:none PAC|XP:NP_001199 SYM|BTF3L1 NAM|basic transcription factor 3, like 1 SYN|OPG |OCIF |HUMBTFB |TNFRSF11B FNC|basic transcription factor 3, like 1 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The protein encoded by this gene is a putative member of the BTF3 family of transcription |factors. Transcription of this gene has not yet been documented. CHR|13 PRD|lambda h27A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181965 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9772231 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001208 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001208 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25446 DBL|UNIGENE:Hs.181965 |OMIM:602543 |SNP:690 MAP|13q22 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Human; gene == BTF3; score == 157; expect == 2.4e-39; MEOW:HUgn0000689 (82%) |species == rat; score == 157; expect == 2.4e-39; MEOW:ref|XP_215460.1| (82%) |species == rat; score == 155; expect == 1.1e-38; MEOW:ref|XP_222967.2| (81%) |species == rat; score == 153; expect == 1.2e-38; MEOW:ref|XP_235543.2| (80%) |species == Human; gene == LOC345829; score == 149; expect == 2.9e-37; MEOW:HUgn0345829 (79%) |species == rat; score == 148; expect == 1.1e-36; MEOW:ref|XP_235669.2| (78%) |species == rat; score == 147; expect == 1.1e-36; MEOW:ref|XP_220529.2| (76%) |species == Human; gene == LOC132556; score == 136; expect == 1.2e-32; MEOW:HUgn0132556 (73%) |species == rat; score == 134; expect == 2.1e-32; MEOW:ref|XP_226217.2| (75%) |species == rat; score == 128; expect == 4.1e-31; MEOW:ref|XP_223191.2| (70%) } # EOR GENR { RETE|ID 1 HUgn0000691 CHR 1 8 DID 1 LocusLink:691 MAP 1 8 NAM 1 basic transcription factor 3, like 2 ORG 1 Homo sapiens SYM 1 BTF3L2 ID|HUgn0000691 DID|LocusLink:691 ORG|Homo sapiens DBA|NA:M90355 |NA:none SYM|BTF3L2 NAM|basic transcription factor 3, like 2 SYN|HUMBTFC REAB|The protein encoded by this gene is a putative member of the BTF3 family of transcription |factors. Transcription of this gene has not yet been documented. CHR|8 PRD|lambda h23 |basic transcription factor 3-like 2 DBL|OMIM:603738 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9772234 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0000692 DID 1 LocusLink:692 NAM 1 basic transcription factor 3, like 3 ORG 1 Homo sapiens SYM 1 BTF3L3 ID|HUgn0000692 DID|LocusLink:692 ORG|Homo sapiens DBA|NA:M90356 |NA:none SYM|BTF3L3 NAM|basic transcription factor 3, like 3 SYN|HUMBTFD PRD|lambda h33 |basic transcription factor 3-like 3 DBL|OMIM:603739 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9772236 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0000693 CHR 1 8 DID 1 LocusLink:693 MAP 1 8q11.22 NAM 1 basic transcription factor 3, pseudogene 1 ORG 1 Homo sapiens SYM 1 BTF3P1 ID|HUgn0000693 DID|LocusLink:693 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M90353 SYM|BTF3P1 NAM|basic transcription factor 3, pseudogene 1 SYN|HUMBTFA CHR|8 PRD|lambda h16 MAP|8q11.22 DBL|SNP:693 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9772230 } # EOR GENR { RETE|ID 1 HUgn0000694 CHR 1 12 DID 1 LocusLink:694 MAP 1 12q22 NAM 1 B-cell translocation gene 1, anti-proliferative ORG 1 Homo sapiens SYM 1 BTG1 ID|HUgn0000694 DID|LocusLink:694 ORG|Homo sapiens RSQ|REFSEQ:NM_001731 RPA|REFPROT:NP_001722 DBA|XM:NM_001731 |NA:BC009050 |NA:BC016759 |NA:X61123 |NA:none PAC|XP:NP_001722 SYM|BTG1 NAM|B-cell translocation gene 1, anti-proliferative FNC|B-cell translocation protein 1 |negative regulation of cell proliferation ; GO:0008285 |cell proliferation ; GO:0008283 REAB|The BTG1 gene locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal |translocation in a case of B-cell chronic lymphocytic leukemia. It is a member of |a family of antiproliferative genes. BTG1 expression is maximal in the G0/G1 phases |of the cell cycle and downregulated when cells progressed through G1. It negatively |regulates cell proliferation. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=255935 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=694[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137082 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001731 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001731 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=255935 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25450 DBL|UNIGENE:Hs.255935 |OMIM:109580 |SNP:694 MAP|12q22 HG|species == Mouse; gene == Btg1; score == 348; expect == 1.1e-96; MEOW:MGgn0000905 (100%) |species == rat; score == 346; expect == 3.1e-96; MEOW:ref|NP_058954.1| (99%) |species == rat; score == 298; expect == 1.3e-81; MEOW:ref|XP_346381.1| (88%) |species == rat; score == 294; expect == 1.8e-80; MEOW:ref|XP_233323.2| (86%) |species == Human; gene == BTG2; score == 211; expect == 1.6e-55; MEOW:HUgn0007832 (62%) |species == Zfish; gene == btg2; score == 193; expect == 2.7e-51; MEOW:ZFgn0000714 (60%) |species == Mosquito; score == 131; expect == 1.2e-31; MEOW:AGgn0005118 (46%) } # EOR GENR { RETE|ID 1 HUgn0000695 CHR 1 X DID 1 LocusLink:695 MAP 1 Xq21.33-q22 NAM 1 Bruton agammaglobulinemia tyrosine kinase ORG 1 Homo sapiens SYM 1 BTK ID|HUgn0000695 DID|LocusLink:695 ORG|Homo sapiens RSQ|REFSEQ:NM_000061 RPA|REFPROT:NP_000052 DBA|XM:NM_000061 |NA:L31572 |NA:U10087 |NA:U13433 |NA:U78027 |NA:AF153756 |NA:AF153757 |NA:AF153758 |NA:AF153759 |NA:AF153760 |NA:AF153761 |NA:AF153762 |NA:AK057105 |NA:X58957 |NA:none PAC|XP:NP_000052 SYM|BTK NAM|Bruton agammaglobulinemia tyrosine kinase SYN|AT |ATK |BPK |XLA |IMD1 |AGMX1 |PSCTK1 FNC|Bruton agammaglobulinemia tyrosine kinase |induction of apoptosis by extracellular signals ; GO:0008624 |mesoderm development ; GO:0007498 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 REAB|Defects in the Bruton tyrosine kinase (BTK) gene cause Agammaglobulinemia. Agammaglobulinemia |is an X-linked immunodeficiency characterized by failure to produce mature B lymphocyte |cells and associated with a failure of Ig heavy chain rearrangement. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159494 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=695[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120542 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000061 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000061 |http://www.geneclinics.org/query?mim=300300 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25454 |http://www.helsinki.fi/science/signal/btkbase.html DBL|UNIGENE:Hs.159494 |OMIM:300300 |SNP:695 |UWCM:120542.html |IXDB:541701 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|Xq21.33-q22 PHP|Agammaglobulinemia, type 1, X-linked |XLA and isolated growth hormone deficiency CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Btk; score == 1283; expect == 0.0; MEOW:MGgn0000908 (98%) |species == rat; score == 1138; expect == 0.0; MEOW:ref|XP_346345.1| (90%) |species == Human; gene == TEC; score == 690; expect == 0.0; MEOW:HUgn0007006 (52%) |species == Human; gene == ITK; score == 648; expect == 0.0; MEOW:HUgn0003702 (49%) |species == Human; gene == BMX; score == 640; expect == 0.0; MEOW:HUgn0000660 (47%) |species == Mouse; gene == Itk; score == 636; expect == 0.0; MEOW:MGgn0006607 (48%) |species == Mouse; gene == Bmx; score == 628; expect == 2e-180; MEOW:MGgn0000847 (48%) |species == Mouse; gene == Tec; score == 578; expect == 2e-165; MEOW:MGgn0012151 (52%) |species == Human; gene == TXK; score == 559; expect == 2e-159; MEOW:HUgn0007294 (57%) |species == Zfish; gene == itk; score == 558; expect == 2e-160; MEOW:ZFgn0000238 (44%) |species == Mouse; gene == Txk; score == 550; expect == 6e-157; MEOW:MGgn0012652 (57%) |species == Mosquito; score == 483; expect == 1e-136; MEOW:AGgn0006704 (52%) |species == Fruitfly; gene == Btk29A; score == 482; expect == 4e-136; MEOW:FBgn0003502 (52%) |species == Worm; gene == src-2; score == 310; expect == 8.7e-85; MEOW:CEgn0026958 (37%) |species == Worm; gene == abl-1; score == 308; expect == 5.7e-84; MEOW:CEgn0000002 (37%) |species == rice; score == 173; expect == 5.4e-43; MEOW:gnl|TIGR|8357.m03093 (35%) |species == Weed; gene == At2g17700; score == 166; expect == 3.0e-41; MEOW:ATgn0028393 (31%) |species == rice; score == 163; expect == 3.6e-40; MEOW:gnl|TIGR|8355.m02702 (34%) |species == Weed; gene == At4g38470; score == 159; expect == 4.8e-39; MEOW:ATgn0020261 (31%) |species == Weed; gene == At4g35780; score == 151; expect == 9.9e-37; MEOW:ATgn0017130 (31%) |species == rice; score == 147; expect == 4.1e-35; MEOW:gnl|TIGR|8352.m05524 (29%) |species == rice; score == 147; expect == 4.1e-35; MEOW:gnl|TIGR|8359.m00564 (29%) |species == chimp; score == 147; expect == 2.5e-37; MEOW:sp|BAC78172|BAC78172 (29%) |species == Weed; gene == At2g31010; score == 144; expect == 2.1e-34; MEOW:ATgn0008444 (34%) |species == Weed; gene == At3g06640; score == 144; expect == 2.1e-34; MEOW:ATgn0016813 (32%) |species == Weed; gene == At3g58640; score == 143; expect == 2.7e-34; MEOW:ATgn0012164 (33%) |species == Weed; gene == At3g06620; score == 142; expect == 7.9e-34; MEOW:ATgn0016803 (32%) |species == Weed; gene == At5g49470; score == 141; expect == 1.3e-33; MEOW:ATgn0022825 (30%) |species == Weed; gene == At1g67890; score == 137; expect == 1.5e-32; MEOW:ATgn0006424 (31%) |species == Weed; gene == At2g42630; score == 137; expect == 2.5e-32; MEOW:ATgn0008219 (30%) } # EOR GENR { RETE|ID 1 HUgn0000696 CHR 1 6 DID 1 LocusLink:696 MAP 1 6p22.1 NAM 1 butyrophilin, subfamily 1, member A1 ORG 1 Homo sapiens SYM 1 BTN1A1 ID|HUgn0000696 DID|LocusLink:696 ORG|Homo sapiens RSQ|REFSEQ:NM_001732 RPA|REFPROT:NP_001723 DBA|XM:NM_001732 |NA:U39576 |NA:none PAC|XP:NP_001723 SYM|BTN1A1 NAM|butyrophilin, subfamily 1, member A1 SYN|BT |BTN FNC|butyrophilin, subfamily 1, member A1 REAB|Butyrophilin is the major protein associated with fat droplets in the milk. It is |a member of the immunoglobulin superfamily. It may have a cell surface receptor |function. The human butyrophilin gene is localized in the major histocompatibility |complex (MHC) class I region of 6p and may have arisen relatively recently in evolution |by the shuffling of exons between 2 ancestral gene families CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153058 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=696[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:580606 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001732 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001732 DBL|UNIGENE:Hs.153058 |OMIM:601610 |SNP:696 MAP|6p22.1 ENZ|receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Btn1a1; score == 772; expect == 0.0; MEOW:MGgn0000910 (74%) |species == rat; score == 765; expect == 0.0; MEOW:ref|XP_225365.2| (71%) |species == Human; gene == BTN3A3; score == 442; expect == 3e-124; MEOW:HUgn0010384 (46%) |species == Human; gene == BTN2A2; score == 441; expect == 6e-124; MEOW:HUgn0010385 (49%) |species == Human; gene == BTN2A1; score == 406; expect == 1e-113; MEOW:HUgn0011120 (47%) |species == Human; gene == BTN2A3; score == 393; expect == 2e-109; MEOW:HUgn0054718 (47%) |species == Human; gene == BTN3A1; score == 391; expect == 4e-109; MEOW:HUgn0011119 (47%) |species == chimp; score == 141; expect == 1.3e-34; MEOW:sp|Q95N50|Q95N50 (48%) } # EOR GENR { RETE|ID 1 HUgn0000697 CHR 1 6 DID 1 LocusLink:697 MAP 1 6p22-p21.3 NAM 1 butyrophilin-like 1 ORG 1 Homo sapiens SYM 1 BTNL1 ID|HUgn0000697 DID|LocusLink:697 ORG|Homo sapiens SYM|BTNL1 NAM|butyrophilin-like 1 SYN|NG10 CHR|6 MAP|6p22-p21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9957735 } # EOR GENR { RETE|ID 1 HUgn0000698 DID 1 LocusLink:698 NAM 1 bladder tumor susceptibility 1 ORG 1 Homo sapiens SYM 1 BTS1 ID|HUgn0000698 DID|LocusLink:698 ORG|Homo sapiens SYM|BTS1 NAM|bladder tumor susceptibility 1 PRD|bladded tumor susceptibility 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6053732 } # EOR GENR { RETE|ID 1 HUgn0000699 CHR 1 2 DID 1 LocusLink:699 MAP 1 2q14 NAM 1 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) ORG 1 Homo sapiens SYM 1 BUB1 ID|HUgn0000699 DID|LocusLink:699 ORG|Homo sapiens RSQ|REFSEQ:NM_004336 RPA|REFPROT:NP_004327 DBA|XM:NM_004336 |NA:AF011387 |NA:AF043294 |NA:AF046078 |NA:AF047471 |NA:AF053305 |NA:AK023540 |NA:BC017038 |NA:BC028201 |NA:none PAC|XP:NP_004327 SYM|BUB1 NAM|BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) FNC|BUB1 budding uninhibited by benzimidazoles 1 homolog |mitotic spindle checkpoint ; GO:0007094 |cell cycle ; GO:0007049 |mitosis ; GO:0007067 |protein amino acid phosphorylation ; GO:0006468 CHR|2 PRD|hBUB1 |putative serine/threonine-protein kinase |budding uninhibited by benzimidazoles 1 (yeast homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=287472 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=699[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6802741 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004336 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004336 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=287472 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.287472 |OMIM:602452 |SNP:699 MAP|2q14 PHP|Colorectal cancer with chromosomal instability ENZ|ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 CEL|spindle pole body ; GO:0005816 |kinetochore ; GO:0005699 |nucleus ; GO:0005634 HG|species == Mouse; gene == Bub1; score == 1543; expect == 0.0; MEOW:MGgn0000914 (72%) |species == rat; score == 1530; expect == 0.0; MEOW:ref|XP_215849.2| (72%) |species == Yeast; gene == BUB1; score == 169; expect == 2.9e-42; MEOW:SGgn0003420 (31%) |species == Mosquito; score == 168; expect == 7.0e-42; MEOW:AGgn0001105 (35%) |species == Fruitfly; gene == Bub1; score == 168; expect == 1.0e-41; MEOW:FBgn0025458 (32%) |species == Mosquito; gene == LOC8371; score == 165; expect == 2.0e-40; MEOW:AGgn0008371 (35%) |species == rice; score == 163; expect == 1.3e-39; MEOW:gnl|TIGR|8355.m03033 (31%) |species == Fruitfly; gene == CG14030; score == 159; expect == 4.8e-39; MEOW:FBgn0031696 (35%) |species == Worm; gene == bub-1; score == 149; expect == 7.7e-36; MEOW:CEgn0014508 (25%) } # EOR GENR { RETE|ID 1 HUgn0000700 CHR 1 8 DID 1 LocusLink:700 MAP 1 8q24 NAM 1 Burkitt lymphoma variant rearranging region 1 ORG 1 Homo sapiens SYM 1 BVR1 ID|HUgn0000700 DID|LocusLink:700 ORG|Homo sapiens DBA|NA:M16601 SYM|BVR1 NAM|Burkitt lymphoma variant rearranging region 1 CHR|8 MAP|8q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125370 } # EOR GENR { RETE|ID 1 HUgn0000701 CHR 1 15 DID 1 LocusLink:701 MAP 1 15q15 NAM 1 BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) ORG 1 Homo sapiens SYM 1 BUB1B ID|HUgn0000701 DID|LocusLink:701 ORG|Homo sapiens RSQ|REFSEQ:NM_001211 RPA|REFPROT:NP_001202 DBA|XM:NM_001211 |NA:AF035933 |NA:AF046079 |NA:AF046918 |NA:AF053306 |NA:AF068760 |NA:AF107297 |NA:BC018739 |NA:none PAC|XP:NP_001202 SYM|BUB1B NAM|BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) SYN|BUBR1 |Bub1A |MAD3L FNC|BUB1 budding uninhibited by benzimidazoles 1 homolog beta CHR|15 PRD|hBUBR1 |budding uninhibited by benzimidazoles 1 (yeast homolog), beta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36708 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=701[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836076 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001211 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001211 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=36708 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.36708 |OMIM:602860 |SNP:701 MAP|15q15 HG|species == rat; score == 1520; expect == 0.0; MEOW:ref|XP_342495.1| (77%) |species == Mouse; gene == Bub1b; score == 1474; expect == 0.0; MEOW:MGgn0000915 (76%) |species == Fruitfly; gene == Bub1; score == 165; expect == 1.6e-40; MEOW:FBgn0025458 (31%) } # EOR GENR { RETE|ID 1 HUgn0000705 CHR 1 6 DID 1 LocusLink:705 MAP 1 6p21.1 NAM 1 bystin-like ORG 1 Homo sapiens SYM 1 BYSL ID|HUgn0000705 DID|LocusLink:705 ORG|Homo sapiens RSQ|REFSEQ:NM_004053 RPA|REFPROT:NP_004044 DBA|XM:NM_004053 |NA:BC007340 |NA:BC050645 |NA:L36720 |NA:none PAC|XP:NP_004044 SYM|BYSL NAM|bystin-like SYN|BYSTIN FNC|bystin REAB|Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M |cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays |determined that bystin binds directly to trophinin and tastin, and that binding |is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H |cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, |suggesting that these molecules form a complex in trophectoderm cells at the time |of implantation. Using immunohistochemistry it was determined that trophinin and |bystin are found in the placenta from the sixth week of pregnancy. Both proteins |were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi |and in endometrial decidual cells at the uteroplacental interface. After week 10, |the levels of trophinin, tastin, and bystin decreased and then disappeared from |placental villi. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=106880 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=705[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836799 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004053 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004053 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=106880 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25472 DBL|UNIGENE:Hs.106880 |OMIM:603871 |SNP:705 MAP|6p21.1 HG|species == Mouse; gene == Bysl; score == 549; expect == 4e-157; MEOW:MGgn0014016 (96%) |species == Mosquito; gene == LOC10976; score == 404; expect == 2e-113; MEOW:AGgn0010976 (64%) |species == Fruitfly; gene == bys; score == 383; expect == 3e-107; MEOW:FBgn0010292 (63%) |species == Worm; gene == F57B9.5; score == 369; expect == 1e-102; MEOW:CEgn0012206 (59%) |species == Weed; gene == At1g31660; score == 336; expect == 1.1e-92; MEOW:ATgn0000596 (53%) |species == rice; score == 322; expect == 4.5e-88; MEOW:gnl|TIGR|8357.m01553 (53%) |species == Yeast; gene == ENP1; score == 257; expect == 1.4e-69; MEOW:SGgn0000451 (42%) } # EOR GENR { RETE|ID 1 HUgn0000706 CHR 1 22 DID 1 LocusLink:706 MAP 1 22q13.31 NAM 1 benzodiazapine receptor (peripheral) ORG 1 Homo sapiens SYM 1 BZRP ID|HUgn0000706 DID|LocusLink:706 ORG|Homo sapiens RSQ|REFSEQ:NM_000714 |REFSEQ:NM_007311 RPA|REFPROT:NP_000705 |REFPROT:NP_009295 DBA|XM:NM_000714 |XM:NM_007311 |NA:L21951 |NA:L21954 |NA:U12421 |NA:AF075589 |NA:AF075590 |NA:BC001110 |NA:L21950 |NA:M36035 |NA:none PAC|XP:NP_000705 |XP:NP_009295 SYM|BZRP NAM|benzodiazapine receptor (peripheral) SYN|MBR |PBR FNC|peripheral benzodiazapine receptor |peripheral benzodiazapine receptor short form |mitochondrial translocation ; GO:0006628 REAB|Present mainly in the mitochondrial compartment of peripheral tissues, PBR interacts |with some benzodiazepines and has different affinities than its endogenous counterpart. |PBR appears to be a key factor in the flow of cholesterol into mitochondria to permit |the initiation of steroid hormone synthesis. It is speculated that patients with |congenital lipoid adrenal hyperplasia, who cannot make any steroids, might have |a genetic lesion in BZRP. A short form, PBR-S is also expressed in the same tissues, |but at a level about ten times that of PBR. CHR|22 PRD|PBR-S |benzodiazepine receptor (peripheral) |Benzodiazepine receptor, peripheral type (benzodiazepine peripheral binding site) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=706[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127347 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000714 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000714 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=202 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=706 DBL|UNIGENE:Hs.202 |OMIM:109610 |SNP:706 MAP|22q13.31 ENZ|benzodiazepine receptor activity ; GO:0008503 CEL|mitochondrial outer membrane ; GO:0005741 HG|species == rat; score == 300; expect == 2.5e-82; MEOW:ref|NP_036647.1| (79%) |species == Mouse; gene == Bzrp; score == 296; expect == 3.6e-81; MEOW:MGgn0000937 (79%) |species == Mosquito; gene == LOC23128; score == 165; expect == 1.4e-41; MEOW:AGgn0023128 (50%) |species == Fruitfly; gene == CG2789; score == 148; expect == 1.4e-36; MEOW:FBgn0031263 (47%) } # EOR GENR { RETE|ID 1 HUgn0000708 CHR 1 17 DID 1 LocusLink:708 MAP 1 17p13.3 NAM 1 complement component 1, q subcomponent binding protein ORG 1 Homo sapiens SYM 1 C1QBP ID|HUgn0000708 DID|LocusLink:708 ORG|Homo sapiens RSQ|REFSEQ:NM_001212 RPA|REFPROT:NP_001203 DBA|XM:NM_001212 |NA:AF338439 |NA:AF275902 |NA:AJ297362 |NA:BC000435 |NA:BC013731 |NA:L04636 |NA:X75913 |NA:none PAC|XP:NP_001203 SYM|C1QBP NAM|complement component 1, q subcomponent binding protein SYN|p32 |HABP1 |gC1qR |GC1QBP |SF2p32 |gC1Q-R FNC|complement component 1, q subcomponent binding protein precursor |immune response ; GO:0006955 REAB|The human complement subcomponent C1q associates with C1r and C1s in order to yield |the first component of the serum complement system. The protein encoded by this |gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. |This protein has also been identified as the p32 subunit of pre-mRNA splicing factor |SF2, as well as a hyaluronic acid-binding protein. CHR|17 PRD|hyaluronan-binding protein 1 |C1q globular domain-binding protein |splicing factor SF2-associated protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78614 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=708[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:373424 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001212 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001212 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78614 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25624 DBL|UNIGENE:Hs.78614 |OMIM:601269 |SNP:708 MAP|17p13.3 CEL|mitochondrial matrix ; GO:0005759 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == C1qbp; score == 470; expect == 4e-133; MEOW:MGgn0000941 (85%) |species == rat; score == 461; expect == 1e-130; MEOW:ref|XP_346399.1| (86%) |species == Fruitfly; gene == CG6459; score == 131; expect == 2.1e-31; MEOW:FBgn0034259 (37%) } # EOR GENR { RETE|ID 1 HUgn0000709 CHR 1 X DID 1 LocusLink:709 MAP 1 X NAM 1 C1AGOH temperature sensitivity complementing ORG 1 Homo sapiens SYM 1 C1HR ID|HUgn0000709 DID|LocusLink:709 ORG|Homo sapiens SYM|C1HR NAM|C1AGOH temperature sensitivity complementing CHR|X MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119040 } # EOR GENR { RETE|ID 1 HUgn0000710 CHR 1 11 DID 1 LocusLink:710 MAP 1 11q12-q13.1 NAM 1 serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) ORG 1 Homo sapiens SYM 1 SERPING1 ID|HUgn0000710 DID|LocusLink:710 ORG|Homo sapiens RSQ|REFSEQ:NM_000062 RPA|REFPROT:NP_000053 DBA|XM:NM_000062 |NA:M30688 |NA:S76944 |NA:X07427 |NA:X54486 |NA:BC011171 |NA:BT006966 |NA:M13203 |NA:M13656 |NA:M13690 |NA:M14036 |NA:X07577 |NA:none PAC|XP:NP_000053 SYM|SERPING1 NAM|serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) SYN|C1IN |C1NH |HAE1 |HAE2 |C1-INH FNC|complement component 1 inhibitor precursor |complement activation, classical pathway ; GO:0006958 |circulation ; GO:0008015 |blood coagulation ; GO:0007596 REAB|The protein encoded by this gene inhibits activated C1r and C1s of the first complement |component and thus regulates complement activation. Deficiency of this protein is |associated with hereditary angioneurotic oedema (HANE). CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=384598 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=710[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119041 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000062 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000062 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=384598 |http://www.geneclinics.org/query?mim=106100 |http://www.geneclinics.org/query?mim=606860 DBL|UNIGENE:Hs.384598 |OMIM:606860 |SNP:710 MAP|11q12-q13.1 PHP|Angioedema, hereditary ENZ|serpin ; GO:0004868 |serine protease inhibitor activity ; GO:0004867 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Serping1; score == 636; expect == 0.0; MEOW:MGgn0000938 (69%) |species == rat; score == 598; expect == 2e-171; MEOW:ref|XP_215766.2| (67%) |species == chimp; score == 228; expect == 2.9e-61; MEOW:sp|Q95J66|Q95J66 (100%) |species == Human; gene == SERPINF2; score == 153; expect == 2.4e-37; MEOW:HUgn0005345 (29%) |species == Human; gene == SERPINF1; score == 140; expect == 1.6e-33; MEOW:HUgn0005176 (26%) } # EOR GENR { RETE|ID 1 HUgn0000711 CHR 1 1 DID 1 LocusLink:711 MAP 1 1p36.3 NAM 1 chromosome 1 open reading frame 1 ORG 1 Homo sapiens SYM 1 C1orf1 ID|HUgn0000711 DID|LocusLink:711 ORG|Homo sapiens RSQ|REFSEQ:NM_001213 RPA|REFPROT:NP_001204 DBA|XM:NM_001213 |NA:U88965 |NA:none PAC|XP:NP_001204 SYM|C1orf1 NAM|chromosome 1 open reading frame 1 SYN|Po42 FNC|chromosome 1 open reading frame 1 |cell growth and/or maintenance ; GO:0008151 REAB|C1ORF1 is a putative tumor suppressor gene. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=158302 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9557978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001213 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001213 DBL|UNIGENE:Hs.158302 |OMIM:604006 |SNP:711 MAP|1p36.3 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0000712 CHR 1 1 DID 1 LocusLink:712 MAP 1 1p36.3-p34.1 NAM 1 complement component 1, q subcomponent, alpha polypeptide ORG 1 Homo sapiens SYM 1 C1QA ID|HUgn0000712 DID|LocusLink:712 ORG|Homo sapiens RSQ|REFSEQ:NM_015991 RPA|REFPROT:NP_057075 DBA|XM:NM_015991 |NA:AF135157 |NA:AF260332 |NA:BC030153 |NA:none PAC|XP:NP_057075 SYM|C1QA NAM|complement component 1, q subcomponent, alpha polypeptide FNC|complement component 1, q subcomponent, alpha polypeptide precursor |complement activation, classical pathway ; GO:0006958 |regulation of transcription, DNA-dependent ; GO:0006355 |cell-cell signaling ; GO:0007267 REAB|This gene encodes a major constituent of the human complement subcomponent C1q. C1q |associates with C1r and C1s in order to yield the first component of the serum complement |system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. |C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. |Each chain contains a collagen-like region located near the N terminus and a C-terminal |globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome |1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. CHR|1 PRD|complement component C1q, A chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9641 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=712[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119042 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015991 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015991 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9641 DBL|UNIGENE:Hs.9641 |OMIM:120550 |SNP:712 MAP|1p36.3-p34.1 PHP|C1q deficiency, type A ENZ|complement activity ; GO:0003811 |DNA binding ; GO:0003677 CEL|complement component C1q complex ; GO:0005602 |nucleus ; GO:0005634 HG|species == rat; score == 393; expect == 4e-110; MEOW:ref|XP_216554.2| (73%) |species == Mouse; gene == C1qa; score == 331; expect == 1.3e-91; MEOW:MGgn0000939 (70%) |species == Human; gene == C1QB; score == 154; expect == 3.2e-38; MEOW:HUgn0000713 (44%) |species == Human; gene == C1QG; score == 130; expect == 6.5e-31; MEOW:HUgn0000714 (40%) } # EOR GENR { RETE|ID 1 HUgn0000713 CHR 1 1 DID 1 LocusLink:713 MAP 1 1p36.3-p34.1 NAM 1 complement component 1, q subcomponent, beta polypeptide ORG 1 Homo sapiens SYM 1 C1QB ID|HUgn0000713 DID|LocusLink:713 ORG|Homo sapiens RSQ|REFSEQ:NM_000491 RPA|REFPROT:NP_000482 DBA|XM:NM_000491 |NA:K03430 |NA:BC008983 |NA:M36278 |NA:X03084 |NA:none PAC|XP:NP_000482 SYM|C1QB NAM|complement component 1, q subcomponent, beta polypeptide FNC|complement component 1, q subcomponent, beta polypeptide precursor |complement activation, classical pathway ; GO:0006958 REAB|This gene encodes a major constituent of the human complement subcomponent C1q. C1q |associates with C1r and C1s in order to yield the first component of the serum complement |system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. |C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. |Each chain contains a collagen-like region located near the N terminus and a C-terminal |globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome |1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q CHR|1 PRD|complement component C1q, B chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=8986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=713[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119043 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000491 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000491 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=8986 DBL|UNIGENE:Hs.8986 |OMIM:120570 |SNP:713 MAP|1p36.3-p34.1 PHP|C1q deficiency, type B ENZ|complement activity ; GO:0003811 CEL|complement component C1q complex ; GO:0005602 HG|species == Mouse; gene == C1qb; score == 287; expect == 3.3e-78; MEOW:MGgn0000940 (79%) |species == rat; score == 287; expect == 3.3e-78; MEOW:ref|NP_062135.1| (78%) |species == Human; gene == C1QA; score == 154; expect == 3.2e-38; MEOW:HUgn0000712 (44%) |species == Human; gene == C1QG; score == 149; expect == 1.3e-36; MEOW:HUgn0000714 (50%) } # EOR GENR { RETE|ID 1 HUgn0000714 CHR 1 1 DID 1 LocusLink:714 MAP 1 1p36.11 NAM 1 complement component 1, q subcomponent, gamma polypeptide ORG 1 Homo sapiens SYM 1 C1QG ID|HUgn0000714 DID|LocusLink:714 ORG|Homo sapiens RSQ|REFSEQ:NM_172369 RPA|REFPROT:NP_758957 DBA|XM:NM_172369 |NA:AK057792 |NA:BC009016 |NA:none PAC|XP:NP_758957 SYM|C1QG NAM|complement component 1, q subcomponent, gamma polypeptide SYN|C1QC FNC|complement component 1, q subcomponent, gamma polypeptide |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 CHR|1 PRD|complement component C1q, C chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=94953 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=714[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128132 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172369 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172369 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=94953 DBL|UNIGENE:Hs.94953 |OMIM:120575 |SNP:714 MAP|1p36.11 PHP|C1q deficiency, type C ENZ|defense/immunity protein activity ; GO:0003793 CEL|extracellular ; GO:0005576 HG|species == rat; score == 318; expect == 1.7e-87; MEOW:ref|XP_342952.1| (76%) |species == Mouse; gene == C1qg; score == 268; expect == 2.0e-72; MEOW:MGgn0000942 (72%) |species == Human; gene == APM1; score == 157; expect == 3.7e-39; MEOW:HUgn0009370 (44%) |species == Human; gene == C1QB; score == 149; expect == 1.3e-36; MEOW:HUgn0000713 (50%) |species == Human; gene == C1QA; score == 130; expect == 6.5e-31; MEOW:HUgn0000712 (40%) } # EOR GENR { RETE|ID 1 HUgn0000715 CHR 1 12 DID 1 LocusLink:715 MAP 1 12p13 NAM 1 complement component 1, r subcomponent ORG 1 Homo sapiens SYM 1 C1R ID|HUgn0000715 DID|LocusLink:715 ORG|Homo sapiens RSQ|REFSEQ:NM_001733 RPA|REFPROT:NP_001724 DBA|XM:NM_001733 |NA:AB083037 |NA:AK024951 |NA:AK094009 |NA:BC035220 |NA:M14058 |NA:X04701 |NA:none PAC|XP:NP_001724 SYM|C1R NAM|complement component 1, r subcomponent FNC|complement component 1, r subcomponent |complement activation, classical pathway ; GO:0006958 |proteolysis and peptidolysis ; GO:0006508 |immune response ; GO:0006955 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=308680 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=715[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119729 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001733 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001733 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=308680 DBL|UNIGENE:Hs.308680 |OMIM:216950 |SNP:715 ENZ|EC:3.4.21.41 |complement component C1r activity ; GO:0003815 |trypsin activity ; GO:0004295 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|12p13 PHP|C1r/C1s deficiency, combined HG|species == Mouse; gene == C1r; score == 1229; expect == 0.0; MEOW:MGgn0013807 (80%) |species == rat; score == 807; expect == 0.0; MEOW:ref|XP_242644.2| (82%) |species == Human; gene == MASP2; score == 529; expect == 2e-150; MEOW:HUgn0010747 (41%) |species == Human; gene == MASP1; score == 491; expect == 7e-139; MEOW:HUgn0005648 (36%) |species == Human; gene == C1S; score == 474; expect == 9e-134; MEOW:HUgn0000716 (38%) |species == chimp; score == 176; expect == 1.7e-44; MEOW:sp|Q28800|Q28800 (33%) |species == chimp; score == 173; expect == 1.4e-43; MEOW:sp|Q28802|Q28802 (33%) |species == chimp; score == 172; expect == 1.0e-44; MEOW:sp|Q28801|Q28801 (32%) |species == Fruitfly; gene == tok; score == 149; expect == 4.0e-36; MEOW:FBgn0004885 (32%) |species == Zfish; gene == bmp1; score == 149; expect == 2.7e-37; MEOW:ZFgn0000445 (32%) |species == chimp; score == 147; expect == 2.7e-37; MEOW:sp|Q28803|Q28803 (33%) |species == chimp; score == 145; expect == 1.8e-36; MEOW:sp|Q28805|Q28805 (32%) |species == chimp; score == 143; expect == 1.0e-34; MEOW:sp|Q28804|Q28804 (32%) |species == Fruitfly; gene == CG8172; score == 139; expect == 4.2e-33; MEOW:FBgn0033362 (31%) |species == Fruitfly; gene == tld; score == 136; expect == 2.7e-32; MEOW:FBgn0003719 (29%) |species == Mosquito; score == 133; expect == 2.2e-31; MEOW:AGgn0006368 (34%) |species == Mosquito; score == 133; expect == 2.2e-31; MEOW:AGgn0021251 (28%) |species == Mosquito; score == 132; expect == 4.9e-31; MEOW:AGgn0025294 (33%) |species == Fruitfly; gene == CG11824; score == 132; expect == 3.0e-31; MEOW:FBgn0033360 (31%) } # EOR GENR { RETE|ID 1 HUgn0000716 CHR 1 12 DID 1 LocusLink:716 MAP 1 12p13 NAM 1 complement component 1, s subcomponent ORG 1 Homo sapiens SYM 1 C1S ID|HUgn0000716 DID|LocusLink:716 ORG|Homo sapiens RSQ|REFSEQ:NM_001734 RPA|REFPROT:NP_001725 DBA|XM:NM_001734 |NA:AK025309 |NA:AK055183 |NA:BC056903 |NA:J04080 |NA:M18767 |NA:X06596 |NA:none PAC|XP:NP_001725 SYM|C1S NAM|complement component 1, s subcomponent FNC|complement component 1, s subcomponent |complement activation, classical pathway ; GO:0006958 |proteolysis and peptidolysis ; GO:0006508 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458355 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=716[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119730 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001734 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001734 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=458355 DBL|UNIGENE:Hs.458355 |OMIM:120580 |SNP:716 ENZ|EC:3.4.21.42 |complement component C1s activity ; GO:0003816 |trypsin activity ; GO:0004295 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|12p13 PHP|C1r/C1s deficiency, combined |C1s deficiency, isolated HG|species == rat; score == 1102; expect == 0.0; MEOW:ref|NP_620255.1| (75%) |species == Mouse; gene == C1s; score == 1070; expect == 0.0; MEOW:MGgn0013808 (74%) |species == Human; gene == C1R; score == 474; expect == 9e-134; MEOW:HUgn0000715 (38%) |species == Human; gene == MASP2; score == 465; expect == 4e-131; MEOW:HUgn0010747 (38%) |species == Human; gene == MASP1; score == 422; expect == 4e-118; MEOW:HUgn0005648 (35%) |species == chimp; score == 168; expect == 3.5e-42; MEOW:sp|Q28800|Q28800 (34%) |species == chimp; score == 157; expect == 8.2e-39; MEOW:sp|Q28802|Q28802 (33%) |species == chimp; score == 155; expect == 3.1e-38; MEOW:sp|Q28801|Q28801 (33%) |species == Fruitfly; gene == CG18735; score == 138; expect == 6.9e-33; MEOW:FBgn0042098 (31%) |species == Mosquito; score == 136; expect == 3.3e-32; MEOW:AGgn0021251 (32%) |species == Zfish; gene == bmp1; score == 130; expect == 1.3e-31; MEOW:ZFgn0000445 (32%) } # EOR GENR { RETE|ID 1 HUgn0000717 CHR 1 6 DID 1 LocusLink:717 MAP 1 6p21.3 NAM 1 complement component 2 ORG 1 Homo sapiens SYM 1 C2 ID|HUgn0000717 DID|LocusLink:717 ORG|Homo sapiens RSQ|REFSEQ:NM_000063 RPA|REFPROT:NP_000054 DBA|XM:NM_000063 |NA:AF019413 |NA:L09708 |NA:M15082 |NA:M15549 |NA:M86920 |NA:X77331 |NA:AK096258 |NA:BC029781 |NA:BC043484 |NA:X04481 |NA:none PAC|XP:NP_000054 SYM|C2 NAM|complement component 2 SYN|CO2 FNC|complement component 2 precursor |complement activation, classical pathway ; GO:0006958 |proteolysis and peptidolysis ; GO:0006508 REAB|Component C2 is part of the classical pathway of complement system. Activated C1 |cleaves C2 into C2a and C2b. C2a leads to activation of C3. Deficiency of C2 has |been reported to associated with certain autoimmune diseases. CHR|6 PRD|C3/C5 convertase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2253 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=717[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119731 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000063 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000063 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2253 DBL|UNIGENE:Hs.2253 |OMIM:217000 |SNP:717 ENZ|EC:3.4.21.43 |trypsin activity ; GO:0004295 |classical-complement-pathway C3/C5 convertase activity ; GO:0003813 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|6p21.3 PHP|C2 deficiency CEL|complement component C2 complex ; GO:0005603 HG|species == chimp; score == 1546; expect == 0.0; MEOW:sp|Q8SQ74|Q8SQ74 (99%) |species == rat; score == 1182; expect == 0.0; MEOW:ref|NP_757376.1| (76%) |species == Mouse; gene == C2; score == 1151; expect == 0.0; MEOW:MGgn0000944 (74%) |species == Human; gene == BF; score == 516; expect == 2e-146; MEOW:HUgn0000629 (39%) |species == Zfish; gene == bf; score == 423; expect == 1e-119; MEOW:ZFgn0000164 (34%) } # EOR GENR { RETE|ID 1 HUgn0000718 CHR 1 19 DID 1 LocusLink:718 MAP 1 19p13.3-p13.2 NAM 1 complement component 3 ORG 1 Homo sapiens SYM 1 C3 ID|HUgn0000718 DID|LocusLink:718 ORG|Homo sapiens RSQ|REFSEQ:NM_000064 RPA|REFPROT:NP_000055 DBA|XM:NM_000064 |NA:J04763 |NA:K02765 |NA:none PAC|XP:NP_000055 SYM|C3 NAM|complement component 3 SYN|ASP FNC|complement component 3 precursor |complement activation, classical pathway ; GO:0006958 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |immune response ; GO:0006955 |signal transduction ; GO:0007165 |inflammatory response ; GO:0006954 |complement activation, alternative pathway ; GO:0006957 REAB|Complement component C3 plays a central role in the activation of complement system. | Its activation is required for both classical and alternative complement activation |pathways. People with C3 deficiency are susceptable to bacteria infection. CHR|19 PRD|acylation-stimulating protein cleavage product URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284394 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=718[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119044 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000064 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000064 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25897 DBL|UNIGENE:Hs.284394 |OMIM:120700 |SNP:718 MAP|19p13.3-p13.2 PHP|C3 deficiency ENZ|complement activity ; GO:0003811 |endopeptidase inhibitor activity ; GO:0004866 |receptor binding ; GO:0005102 CEL|extracellular ; GO:0005576 HG|species == rat; score == 2637; expect == 0.0; MEOW:ref|XP_346864.1| (78%) |species == Mouse; gene == C3; score == 2576; expect == 0.0; MEOW:MGgn0000947 (77%) |species == Human; gene == LOC374880; score == 766; expect == 0.0; MEOW:HUgn0374880 (35%) |species == Human; gene == C5; score == 675; expect == 0.0; MEOW:HUgn0000727 (27%) |species == Human; gene == C4B; score == 646; expect == 0.0; MEOW:HUgn0000721 (30%) |species == Human; gene == C4A; score == 639; expect == 0.0; MEOW:HUgn0000720 (30%) |species == Fruitfly; gene == TepI; score == 235; expect == 1.1e-61; MEOW:FBgn0041183 (27%) |species == Mosquito; score == 233; expect == 3.0e-61; MEOW:AGgn0021282 (26%) |species == Fruitfly; gene == TepII; score == 231; expect == 1.2e-60; MEOW:FBgn0041182 (25%) |species == Mosquito; gene == LOC16857; score == 220; expect == 3.4e-57; MEOW:AGgn0016857 (24%) |species == Mosquito; gene == LOC19522; score == 210; expect == 2.7e-54; MEOW:AGgn0019522 (26%) |species == Mosquito; gene == LOC16853; score == 199; expect == 6.3e-51; MEOW:AGgn0016853 (24%) |species == Fruitfly; gene == TepIV; score == 190; expect == 4.0e-48; MEOW:FBgn0041180 (24%) |species == Worm; gene == ZK337.1a; score == 189; expect == 1.1e-47; MEOW:CEgn0020893 (26%) |species == Worm; gene == ZK337.1b; score == 189; expect == 1.1e-47; MEOW:CEgn0020894 (26%) |species == Worm; gene == ZK337.1c; score == 189; expect == 1.1e-47; MEOW:CEgn0034425 (26%) } # EOR GENR { RETE|ID 1 HUgn0000719 CHR 1 12 DID 1 LocusLink:719 MAP 1 12p13.31 NAM 1 complement component 3a receptor 1 ORG 1 Homo sapiens SYM 1 C3AR1 ID|HUgn0000719 DID|LocusLink:719 ORG|Homo sapiens RSQ|REFSEQ:NM_004054 RPA|REFPROT:NP_004045 DBA|XM:NM_004054 |NA:BC020742 |NA:U28488 |NA:U62027 |NA:Z73157 |NA:none PAC|XP:NP_004045 SYM|C3AR1 NAM|complement component 3a receptor 1 SYN|AZ3B |C3AR |HNFAG09 FNC|complement component 3a receptor 1 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |circulation ; GO:0008015 |smooth muscle contraction ; GO:0006939 |cellular defense response ; GO:0006968 |cell motility ; GO:0006928 |inflammatory response ; GO:0006954 CHR|12 PRD|complement component 3 receptor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155935 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=719[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5892182 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004054 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004054 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155935 DBL|UNIGENE:Hs.155935 |OMIM:605246 |SNP:719 MAP|12p13.31 ENZ|complement component C3a receptor activity ; GO:0004876 |C3a anaphylatoxin receptor activity ; GO:0004943 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == C3ar1; score == 560; expect == 5e-160; MEOW:MGgn0000948 (64%) |species == rat; score == 530; expect == 5e-151; MEOW:ref|NP_114449.1| (59%) |species == Human; gene == FPRL1; score == 140; expect == 1.6e-33; MEOW:HUgn0002358 (46%) |species == chimp; score == 140; expect == 2.9e-35; MEOW:sp|P79242|FML1_PANTR (46%) |species == chimp; score == 139; expect == 8.3e-35; MEOW:sp|P79243|FML2_PANTR (39%) |species == Human; gene == FPRL2; score == 136; expect == 3.0e-32; MEOW:HUgn0002359 (38%) |species == Human; gene == C5R1; score == 134; expect == 8.6e-32; MEOW:HUgn0000728 (47%) |species == chimp; score == 134; expect == 1.6e-33; MEOW:sp|P79240|C5AR_PANTR (47%) |species == chimp; score == 128; expect == 1.5e-31; MEOW:sp|P79241|FMLR_PANTR (45%) } # EOR GENR { RETE|ID 1 HUgn0000720 CHR 1 6 DID 1 LocusLink:720 MAP 1 6p21.3 NAM 1 complement component 4A ORG 1 Homo sapiens SYM 1 C4A ID|HUgn0000720 DID|LocusLink:720 ORG|Homo sapiens RSQ|REFSEQ:NM_007293 RPA|REFPROT:NP_009224 DBA|NA:M14824 |NA:M59815 |NA:M59816 |NA:S58715 |NA:U07855 |NA:BC012372 |NA:BC016933 |NA:K02403 |NA:S81585 |NA:V00502 |NA:none SYM|C4A NAM|complement component 4A SYN|C4S |CO4 FNC|complement component 4A preproprotein |complement activation, classical pathway ; GO:0006958 |regulation of muscle contraction ; GO:0006937 |inflammatory response ; GO:0006954 REAB|This gene encodes the acidic form of complement factor 4, part of the classical activation |pathway. The protein is expressed as a single chain precursor which is proteolytically |cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer |provides a surface for interaction between the antigen-antibody complex and other |complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, |a mediator of local inflammation. Deficiency of this protein is associated with |systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to |the major histocompatibility complex (MHC) class III region on chromosome 6. Varying |haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 |copies of this gene. CHR|6 PRD|acidic C4 |C4A anaphylatoxin |Rodgers form of C4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150833 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119732 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007293 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007293 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150833 DBL|UNIGENE:Hs.150833 |OMIM:120810 |SNP:720 |UWCM:rch/119732. MAP|6p21.3 PHP|Blood group, Rodgers |C4 deficiency ENZ|complement activity ; GO:0003811 |endopeptidase inhibitor activity ; GO:0004866 CEL|extracellular ; GO:0005576 HG|species == Human; gene == C4B; score == 3301; expect == 0.0; MEOW:HUgn0000721 (99%) |species == rat; score == 2709; expect == 0.0; MEOW:ref|XP_346597.1| (79%) |species == Mouse; gene == C4; score == 2583; expect == 0.0; MEOW:MGgn0000949 (76%) |species == Mouse; gene == Slp; score == 2528; expect == 0.0; MEOW:MGgn0011020 (73%) |species == chimp; score == 285; expect == 3.6e-78; MEOW:sp|Q29424|Q29424 (97%) |species == chimp; score == 272; expect == 1.8e-74; MEOW:sp|Q28796|Q28796 (94%) |species == Fruitfly; gene == TepII; score == 223; expect == 6.2e-58; MEOW:FBgn0041182 (27%) |species == Worm; gene == ZK337.1a; score == 210; expect == 4.5e-54; MEOW:CEgn0020893 (26%) |species == Worm; gene == ZK337.1b; score == 210; expect == 4.4e-54; MEOW:CEgn0020894 (26%) |species == Worm; gene == ZK337.1c; score == 210; expect == 4.5e-54; MEOW:CEgn0034425 (26%) |species == Fruitfly; gene == TepIII; score == 185; expect == 1.9e-46; MEOW:FBgn0041181 (26%) |species == Mosquito; score == 160; expect == 5.7e-39; MEOW:AGgn0006629 (24%) } # EOR GENR { RETE|ID 1 HUgn0000721 CHR 1 6 DID 1 LocusLink:721 MAP 1 6p21.3 NAM 1 complement component 4B ORG 1 Homo sapiens SYM 1 C4B ID|HUgn0000721 DID|LocusLink:721 ORG|Homo sapiens RSQ|REFSEQ:NM_000592 RPA|REFPROT:NP_000583 DBA|NA:AF019413 |NA:AL049547 |NA:U24578 |NA:K02404 SYM|C4B NAM|complement component 4B SYN|C4F |CO4 FNC|complement component 4B preproprotein |complement activation ; GO:0006956 REAB|This gene encodes the basic form of complement factor 4, part of the classical activation |pathway. The protein is expressed as a single chain precursor which is proteolytically |cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer |provides a surface for interaction between the antigen-antibody complex and other |complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, |a mediator of local inflammation. Deficiency of this protein is associated with |systemic lupus erythematosus. This gene localizes to the major histocompatibility |complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene |cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In |addition, this gene exists as a long form and a short form due to the presence or |absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. CHR|6 PRD|basic C4 |Chido form of C4 |C4A anaphylatoxin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150833 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=721[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119733 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000592 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000592 DBL|UNIGENE:Hs.150833 |OMIM:120820 |SNP:721 MAP|6p21.3 PHP|C4 deficiency ENZ|complement activity ; GO:0003811 CEL|extracellular space ; GO:0005615 HG|species == Human; gene == C4A; score == 3301; expect == 0.0; MEOW:HUgn0000720 (99%) |species == rat; score == 2704; expect == 0.0; MEOW:ref|XP_346597.1| (79%) |species == Mouse; gene == C4; score == 2581; expect == 0.0; MEOW:MGgn0000949 (76%) |species == Mouse; gene == Slp; score == 2524; expect == 0.0; MEOW:MGgn0011020 (73%) |species == chimp; score == 277; expect == 2.3e-75; MEOW:sp|Q28796|Q28796 (97%) |species == chimp; score == 276; expect == 1.7e-75; MEOW:sp|Q29424|Q29424 (96%) |species == Fruitfly; gene == TepII; score == 221; expect == 1.8e-57; MEOW:FBgn0041182 (26%) |species == Worm; gene == ZK337.1a; score == 198; expect == 2.3e-50; MEOW:CEgn0020893 (28%) |species == Worm; gene == ZK337.1b; score == 198; expect == 2.3e-50; MEOW:CEgn0020894 (28%) |species == Worm; gene == ZK337.1c; score == 198; expect == 2.3e-50; MEOW:CEgn0034425 (28%) |species == Fruitfly; gene == TepIII; score == 185; expect == 1.9e-46; MEOW:FBgn0041181 (26%) |species == Mosquito; gene == LOC19522; score == 176; expect == 1.1e-43; MEOW:AGgn0019522 (25%) |species == Mosquito; score == 159; expect == 1.3e-38; MEOW:AGgn0006629 (24%) } # EOR GENR { RETE|ID 1 HUgn0000722 CHR 1 1 DID 1 LocusLink:722 MAP 1 1q32 NAM 1 complement component 4 binding protein, alpha ORG 1 Homo sapiens SYM 1 C4BPA ID|HUgn0000722 DID|LocusLink:722 ORG|Homo sapiens RSQ|REFSEQ:NM_000715 RPA|REFPROT:NP_000706 DBA|XM:NM_000715 |NA:M62486 |NA:BC022312 |NA:M31452 |NA:X02865 |NA:none PAC|XP:NP_000706 SYM|C4BPA NAM|complement component 4 binding protein, alpha SYN|C4BP FNC|complement component 4 binding protein, alpha |complement activation, classical pathway ; GO:0006958 CHR|1 PRD|complement component 4-binding protein, alpha |Complement component 4-binding protein, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1012 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=722[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120568 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000715 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000715 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1012 DBL|UNIGENE:Hs.1012 |OMIM:120830 |SNP:722 MAP|1q32 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 727; expect == 0.0; MEOW:ref|NP_036648.1| (59%) |species == Human; gene == LOC343024; score == 581; expect == 4e-166; MEOW:HUgn0343024 (59%) |species == Mouse; gene == Zp3r; score == 567; expect == 3e-162; MEOW:MGgn0013313 (47%) |species == chimp; score == 230; expect == 2.7e-62; MEOW:sp|Q29530|Q29530 (29%) |species == chimp; score == 228; expect == 1.0e-61; MEOW:sp|Q29531|Q29531 (29%) |species == chimp; score == 193; expect == 4.7e-51; MEOW:sp|Q28797|Q28797 (27%) |species == Fruitfly; gene == fw; score == 171; expect == 2.4e-42; MEOW:FBgn0001083 (25%) |species == Mosquito; gene == LOC5322; score == 157; expect == 1.2e-38; MEOW:AGgn0005322 (25%) |species == Worm; gene == T07H6.5; score == 146; expect == 1.9e-35; MEOW:CEgn0015756 (25%) |species == Mosquito; score == 142; expect == 3.0e-34; MEOW:AGgn0002431 (25%) } # EOR GENR { RETE|ID 1 HUgn0000723 CHR 1 1 DID 1 LocusLink:723 MAP 1 1q32 NAM 1 complement component 4 binding protein, alpha-like 1 ORG 1 Homo sapiens SYM 1 C4BPAL1 ID|HUgn0000723 DID|LocusLink:723 ORG|Homo sapiens SYM|C4BPAL1 NAM|complement component 4 binding protein, alpha-like 1 CHR|1 PRD|complement component 4-binding protein, alpha-like 1 MAP|1q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128160 } # EOR GENR { RETE|ID 1 HUgn0000724 CHR 1 1 DID 1 LocusLink:724 MAP 1 1q32 NAM 1 complement component 4 binding protein, alpha-like 2 ORG 1 Homo sapiens SYM 1 C4BPAL2 ID|HUgn0000724 DID|LocusLink:724 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X81360 |NA:X81361 |NA:X81362 SYM|C4BPAL2 NAM|complement component 4 binding protein, alpha-like 2 CHR|1 PRD|complement component 4-binding protein, alpha-like 2 MAP|1q32 DBL|SNP:724 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:462444 } # EOR GENR { RETE|ID 1 HUgn0000725 CHR 1 1 DID 1 LocusLink:725 MAP 1 1q32 NAM 1 complement component 4 binding protein, beta ORG 1 Homo sapiens SYM 1 C4BPB ID|HUgn0000725 DID|LocusLink:725 ORG|Homo sapiens RSQ|REFSEQ:NM_000716 RPA|REFPROT:NP_000707 DBA|XM:NM_000716 |NA:L11246 |NA:U31765 |NA:BC005378 |NA:L11245 |NA:M29964 |NA:none |NA:AK092427 PAC|XP:NP_000707 SYM|C4BPB NAM|complement component 4 binding protein, beta SYN|C4BP FNC|complement component 4 binding protein, beta |complement activation, classical pathway ; GO:0006958 |blood coagulation ; GO:0007596 CHR|1 PRD|complement component 4-binding protein, beta |complement component 4-binding protein, beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99886 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=725[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125208 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000716 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000716 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99886 DBL|UNIGENE:Hs.99886 |OMIM:120831 |SNP:725 MAP|1q32 HG|species == rat; score == 345; expect == 1.4e-95; MEOW:ref|NP_058691.1| (66%) } # EOR GENR { RETE|ID 1 HUgn0000726 CHR 1 11 DID 1 LocusLink:726 MAP 1 11q14 NAM 1 calpain 5 ORG 1 Homo sapiens SYM 1 CAPN5 ID|HUgn0000726 DID|LocusLink:726 ORG|Homo sapiens RSQ|REFSEQ:NM_004055 RPA|REFPROT:NP_004046 DBA|XM:NM_004055 |NA:AK092880 |NA:AK094150 |NA:AK128124 |NA:AK129588 |NA:BC018123 |NA:BM679546 |NA:U94346 |NA:Y10552 PAC|XP:NP_004046 SYM|CAPN5 NAM|calpain 5 SYN|HTRA3 |nCL-3 FNC|calpain 5 |proteolysis and peptidolysis ; GO:0006508 |signal transduction ; GO:0007165 REAB|Calpains are calcium-dependent cysteine proteases involved in signal transduction |in a variety of cellular processes. A functional calpain protein consists of an |invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the |large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like |domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination |gene tra-3, CAPN5 is also called as HTRA3. Multiple alternatively spliced transcript |variants have been found for this gene, but the full-length nature of some variants |has not been defined. CHR|11 DBL|OMIM:602537 |SNP:726 MAP|11q14 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=726[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9478352 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004055 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004055 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26062 ENZ|calpain activity ; GO:0004198 |hydrolase activity ; GO:0016787 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Capn5; score == 1223; expect == 0.0; MEOW:MGgn0001020 (90%) |species == rat; score == 1196; expect == 0.0; MEOW:ref|NP_604456.1| (89%) |species == Human; gene == CAPN6; score == 587; expect == 7e-168; MEOW:HUgn0000827 (46%) |species == Worm; gene == tra-3; score == 426; expect == 1e-119; MEOW:CEgn0002849 (39%) |species == Fruitfly; gene == CalpA; score == 371; expect == 1e-102; MEOW:FBgn0012051 (40%) |species == Mosquito; gene == LOC16570; score == 369; expect == 1e-102; MEOW:AGgn0016570 (40%) |species == Fruitfly; gene == CalpB; score == 351; expect == 4.8e-97; MEOW:FBgn0025866 (39%) |species == Worm; gene == clp-7; score == 350; expect == 9.6e-97; MEOW:CEgn0022619 (39%) |species == Worm; gene == clp-6; score == 348; expect == 4.8e-96; MEOW:CEgn0022618 (39%) |species == Worm; gene == clp-1; score == 342; expect == 3.4e-94; MEOW:CEgn0029189 (39%) |species == Mosquito; gene == LOC16690; score == 299; expect == 1.6e-81; MEOW:AGgn0016690 (36%) |species == Weed; gene == At1g55350; score == 190; expect == 2.4e-48; MEOW:ATgn0001653 (31%) } # EOR GENR { RETE|ID 1 HUgn0000727 CHR 1 9 DID 1 LocusLink:727 MAP 1 9q33-q34 NAM 1 complement component 5 ORG 1 Homo sapiens SYM 1 C5 ID|HUgn0000727 DID|LocusLink:727 ORG|Homo sapiens RSQ|REFSEQ:NM_001735 RPA|REFPROT:NP_001726 DBA|XM:NM_001735 |NA:AV682721 |NA:BC022299 |NA:BG533927 |NA:CB250401 |NA:M57729 |NA:M65134 |NA:T82068 |NA:none PAC|XP:NP_001726 SYM|C5 NAM|complement component 5 FNC|complement component 5 |response to pathogenic bacteria ; GO:0009618 |activation of MAPK ; GO:0000187 |complement activation, classical pathway ; GO:0006958 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |response to stress ; GO:0006950 |inflammatory response ; GO:0006954 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1281 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=727[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119734 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001735 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001735 DBL|UNIGENE:Hs.1281 |OMIM:120900 |SNP:727 MAP|9q33-q34 PHP|C5 deficiency ENZ|antibacterial peptide activity ; GO:0003797 |complement activity ; GO:0003811 |chemokine activity ; GO:0008009 |endopeptidase inhibitor activity ; GO:0004866 |receptor binding ; GO:0005102 CEL|membrane attack complex ; GO:0005579 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Hc; score == 2670; expect == 0.0; MEOW:MGgn0005289 (77%) |species == rat; score == 1637; expect == 0.0; MEOW:ref|XP_345343.1| (65%) |species == Human; gene == C3; score == 675; expect == 0.0; MEOW:HUgn0000718 (27%) |species == Worm; gene == ZK337.1b; score == 261; expect == 1.7e-69; MEOW:CEgn0020894 (22%) |species == Fruitfly; gene == TepII; score == 215; expect == 1.3e-55; MEOW:FBgn0041182 (25%) |species == Fruitfly; gene == TepI; score == 179; expect == 9.8e-45; MEOW:FBgn0041183 (24%) |species == Mosquito; gene == LOC19522; score == 176; expect == 1.1e-43; MEOW:AGgn0019522 (24%) |species == Mosquito; score == 156; expect == 8.3e-38; MEOW:AGgn0006629 (21%) |species == Mosquito; gene == LOC16857; score == 156; expect == 8.8e-38; MEOW:AGgn0016857 (22%) |species == Mosquito; score == 150; expect == 4.1e-36; MEOW:AGgn0021282 (22%) } # EOR GENR { RETE|ID 1 HUgn0000728 CHR 1 19 DID 1 LocusLink:728 MAP 1 19q13.3-q13.4 NAM 1 complement component 5 receptor 1 (C5a ligand) ORG 1 Homo sapiens SYM 1 C5R1 ID|HUgn0000728 DID|LocusLink:728 ORG|Homo sapiens RSQ|REFSEQ:NM_001736 RPA|REFPROT:NP_001727 DBA|XM:NM_001736 |NA:BC008982 |NA:BT007358 |NA:M62505 |NA:X57250 |NA:none PAC|XP:NP_001727 SYM|C5R1 NAM|complement component 5 receptor 1 (C5a ligand) SYN|C5A |C5AR |CD88 FNC|complement component 5 receptor 1 (C5a ligand) |activation of MAPK ; GO:0000187 |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |chemosensory perception ; GO:0007606 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cellular defense response ; GO:0006968 |signal transduction ; GO:0007165 CHR|19 PRD|complement component-5 receptor-2 (C5a ligand) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2161 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=728[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128856 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001736 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001736 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2161 DBL|UNIGENE:Hs.2161 |OMIM:113995 |SNP:728 |PROW:666919736 MAP|19q13.3-q13.4 ENZ|C5a anaphylatoxin receptor activity ; GO:0004944 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 618; expect == 2e-177; MEOW:sp|P79240|C5AR_PANTR (99%) |species == Mouse; gene == C5r1; score == 459; expect == 8e-130; MEOW:MGgn0000954 (66%) |species == Human; gene == GPR77; score == 205; expect == 3.3e-53; MEOW:HUgn0027202 (38%) |species == rat; score == 202; expect == 3.0e-52; MEOW:ref|XP_218012.2| (37%) |species == rat; score == 188; expect == 4.4e-48; MEOW:ref|XP_218013.1| (34%) |species == Human; gene == FPRL2; score == 187; expect == 9.9e-48; MEOW:HUgn0002359 (32%) |species == Human; gene == FPR1; score == 184; expect == 4.8e-47; MEOW:HUgn0002357 (33%) |species == rat; score == 171; expect == 4.3e-43; MEOW:ref|NP_037093.1| (31%) |species == Human; gene == CMKLR1; score == 166; expect == 2.3e-41; MEOW:HUgn0001240 (33%) } # EOR GENR { RETE|ID 1 HUgn0000729 CHR 1 5 DID 1 LocusLink:729 MAP 1 5p13 NAM 1 complement component 6 ORG 1 Homo sapiens SYM 1 C6 ID|HUgn0000729 DID|LocusLink:729 ORG|Homo sapiens RSQ|REFSEQ:NM_000065 RPA|REFPROT:NP_000056 DBA|XM:NM_000065 |NA:X72177 |NA:BC035723 |NA:J04506 |NA:J05024 |NA:J05064 |NA:none PAC|XP:NP_000056 SYM|C6 NAM|complement component 6 FNC|Complement component 6 precursor |response to pathogenic bacteria ; GO:0009618 |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 |cytolysis ; GO:0019835 REAB|C6 is a component of complement cascade. It is part of the membrane attack complex |which can insert into the cell membrane and cause cell to lyse. People with C6 |deficiency are prone to bacterial infection. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1282 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=729[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119045 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000065 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000065 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1282 DBL|UNIGENE:Hs.1282 |OMIM:217050 |SNP:729 MAP|5p13 PHP|C6 deficiency |Combined C6/C7 deficiency ENZ|complement activity ; GO:0003811 CEL|membrane attack complex ; GO:0005579 |integral to membrane ; GO:0016021 |extracellular space ; GO:0005615 HG|species == rat; score == 1578; expect == 0.0; MEOW:ref|NP_788263.1| (78%) |species == Mouse; gene == C6; score == 1249; expect == 0.0; MEOW:MGgn0000955 (76%) |species == Human; gene == C7; score == 449; expect == 4e-126; MEOW:HUgn0000730 (32%) } # EOR GENR { RETE|ID 1 HUgn0000730 CHR 1 5 DID 1 LocusLink:730 MAP 1 5p13 NAM 1 complement component 7 ORG 1 Homo sapiens SYM 1 C7 ID|HUgn0000730 DID|LocusLink:730 ORG|Homo sapiens RSQ|REFSEQ:NM_000587 RPA|REFPROT:NP_000578 DBA|XM:NM_000587 |NA:X86344 |NA:J03507 |NA:none PAC|XP:NP_000578 SYM|C7 NAM|complement component 7 FNC|complement component 7 precursor |response to pathogenic bacteria ; GO:0009618 |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 REAB|C7 is a component of the complement system. It participates in the formation of |Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial |infection. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78065 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=730[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119046 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000587 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000587 DBL|UNIGENE:Hs.78065 |OMIM:217070 |SNP:730 MAP|5p13 PHP|C7 deficiency ENZ|complement activity ; GO:0003811 CEL|membrane attack complex ; GO:0005579 |integral to membrane ; GO:0016021 HG|species == rat; score == 1194; expect == 0.0; MEOW:ref|XP_226803.2| (74%) |species == Human; gene == C6; score == 449; expect == 4e-126; MEOW:HUgn0000729 (32%) |species == Mouse; gene == C6; score == 397; expect == 9e-111; MEOW:MGgn0000955 (32%) } # EOR GENR { RETE|ID 1 HUgn0000731 CHR 1 1 DID 1 LocusLink:731 MAP 1 1p32 NAM 1 complement component 8, alpha polypeptide ORG 1 Homo sapiens SYM 1 C8A ID|HUgn0000731 DID|LocusLink:731 ORG|Homo sapiens RSQ|REFSEQ:NM_000562 RPA|REFPROT:NP_000553 DBA|XM:NM_000562 |NA:U08006 |NA:M16974 |NA:none PAC|XP:NP_000553 SYM|C8A NAM|complement component 8, alpha polypeptide FNC|complement component 8, alpha polypeptide precursor |response to pathogenic bacteria ; GO:0009618 |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 REAB|C8 is a component of the complement system and is comprised of three polypeptides, |alpha (C8A), beta and gamma. C8 participates in the formation of Membrane Attack |Complex (MAC). CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93210 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=731[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119735 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000562 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000562 DBL|UNIGENE:Hs.93210 |OMIM:120950 |SNP:731 MAP|1p32 PHP|C8 deficiency, type I ENZ|complement activity ; GO:0003811 CEL|membrane attack complex ; GO:0005579 |integral to membrane ; GO:0016021 |extracellular space ; GO:0005615 HG|species == Mouse; gene == C8a; score == 905; expect == 0.0; MEOW:MGgn0043094 (72%) |species == rat; score == 835; expect == 0.0; MEOW:ref|XP_233251.2| (70%) |species == Human; gene == C8B; score == 313; expect == 1.7e-85; MEOW:HUgn0000732 (32%) |species == Human; gene == C6; score == 306; expect == 4.6e-83; MEOW:HUgn0000729 (32%) } # EOR GENR { RETE|ID 1 HUgn0000732 CHR 1 1 DID 1 LocusLink:732 MAP 1 1p32 NAM 1 complement component 8, beta polypeptide ORG 1 Homo sapiens SYM 1 C8B ID|HUgn0000732 DID|LocusLink:732 ORG|Homo sapiens RSQ|REFSEQ:NM_000066 RPA|REFPROT:NP_000057 DBA|XM:NM_000066 |NA:M16973 |NA:X04393 |NA:none PAC|XP:NP_000057 SYM|C8B NAM|complement component 8, beta polypeptide FNC|complement component 8, beta polypeptide |response to pathogenic bacteria ; GO:0009618 |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 REAB|C8 beta is one of the three subunits that comprise the component 8 (C8) of the complement |system. C8 participates in the formation of Membrane Attack Complex that results |in the lysis of cells. Patients with C8B deficiency are prone to bacteria infection. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=38069 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=732[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119736 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000066 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000066 DBL|UNIGENE:Hs.38069 |OMIM:120960 |SNP:732 MAP|1p32 PHP|C8 deficiency, type II ENZ|complement activity ; GO:0003811 CEL|membrane attack complex ; GO:0005579 |integral to membrane ; GO:0016021 |extracellular space ; GO:0005615 HG|species == rat; score == 958; expect == 0.0; MEOW:ref|XP_233250.2| (79%) |species == Mouse; gene == C8b; score == 920; expect == 0.0; MEOW:MGgn0000958 (75%) |species == Human; gene == C8A; score == 313; expect == 1.7e-85; MEOW:HUgn0000731 (32%) |species == Human; gene == C6; score == 282; expect == 9.4e-76; MEOW:HUgn0000729 (29%) } # EOR GENR { RETE|ID 1 HUgn0000733 CHR 1 9 DID 1 LocusLink:733 MAP 1 9q34.3 NAM 1 complement component 8, gamma polypeptide ORG 1 Homo sapiens SYM 1 C8G ID|HUgn0000733 DID|LocusLink:733 ORG|Homo sapiens RSQ|REFSEQ:NM_000606 RPA|REFPROT:NP_000597 DBA|XM:NM_000606 |NA:U08198 |NA:M17263 |NA:M17999 |NA:X06465 |NA:none PAC|XP:NP_000597 SYM|C8G NAM|complement component 8, gamma polypeptide SYN|C8C FNC|complement component 8, gamma polypeptide |complement activation, classical pathway ; GO:0006958 |transport ; GO:0006810 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 REAB|C8G is one of the three polypeptides that constitute C8, a component of the complement |system. C8 participates in the formation of Membrane Attack Complex (MAC). Patients |with deficiency in C8 are vulnerable to certain bacteria infection. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1285 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=733[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119737 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000606 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000606 DBL|UNIGENE:Hs.1285 |OMIM:120930 |SNP:733 MAP|9q34.3 ENZ|complement activity ; GO:0003811 |binding ; GO:0005488 |transporter activity ; GO:0005215 |retinol binding ; GO:0019841 CEL|membrane attack complex ; GO:0005579 HG|species == rat; score == 291; expect == 1.6e-79; MEOW:ref|XP_215990.2| (76%) |species == Mouse; gene == 1700013L23Rik; score == 257; expect == 1.8e-69; MEOW:MGgn0017350 (76%) } # EOR GENR { RETE|ID 1 HUgn0000734 CHR 1 8 DID 1 LocusLink:734 MAP 1 8q21 NAM 1 chromosome 8 open reading frame 1 ORG 1 Homo sapiens SYM 1 C8orf1 ID|HUgn0000734 DID|LocusLink:734 ORG|Homo sapiens RSQ|REFSEQ:NM_004337 RPA|REFPROT:NP_004328 DBA|XM:NM_004337 |NA:AF069291 |NA:AF061326 |NA:BC031054 |NA:none PAC|XP:NP_004328 SYM|C8orf1 NAM|chromosome 8 open reading frame 1 SYN|hT41 FNC|chromosome 8 open reading frame 1 |germ-cell development ; GO:0007281 |meiosis ; GO:0007126 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436445 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=734[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864250 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004337 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004337 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436445 DBL|UNIGENE:Hs.436445 |OMIM:604598 |SNP:734 MAP|8q21 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == BC010311; score == 964; expect == 0.0; MEOW:MGgn0042440 (91%) |species == rat; score == 960; expect == 0.0; MEOW:ref|XP_232798.2| (91%) |species == Human; gene == OKL38; score == 283; expect == 1.1e-76; MEOW:HUgn0029948 (48%) |species == Worm; gene == F30B5.4; score == 175; expect == 4.2e-44; MEOW:CEgn0009675 (28%) } # EOR GENR { RETE|ID 1 HUgn0000735 CHR 1 5 DID 1 LocusLink:735 MAP 1 5p14-p12 NAM 1 complement component 9 ORG 1 Homo sapiens SYM 1 C9 ID|HUgn0000735 DID|LocusLink:735 ORG|Homo sapiens RSQ|REFSEQ:NM_001737 RPA|REFPROT:NP_001728 DBA|XM:NM_001737 |NA:Y08545 |NA:BC020721 |NA:K02766 |NA:X02176 |NA:none PAC|XP:NP_001728 SYM|C9 NAM|complement component 9 FNC|complement component 9 |complement activation, classical pathway ; GO:0006958 |complement activation, alternative pathway ; GO:0006957 |cytolysis ; GO:0019835 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1290 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=735[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119738 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001737 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001737 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1290 DBL|UNIGENE:Hs.1290 |OMIM:120940 |SNP:735 MAP|5p14-p12 PHP|C9 deficiency |C9 deficiency with dermatomyositis ENZ|hemolysin activity ; GO:0015484 |complement activity ; GO:0003811 CEL|membrane attack complex ; GO:0005579 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 714; expect == 0.0; MEOW:ref|XP_346616.1| (66%) |species == Mouse; gene == C9; score == 665; expect == 0.0; MEOW:MGgn0000960 (63%) |species == Human; gene == C8A; score == 245; expect == 4.4e-65; MEOW:HUgn0000731 (29%) |species == Human; gene == C8B; score == 222; expect == 4.0e-58; MEOW:HUgn0000732 (28%) } # EOR GENR { RETE|ID 1 HUgn0000738 CHR 1 11 DID 1 LocusLink:738 MAP 1 11q13 NAM 1 chromosome 11 open reading frame2 ORG 1 Homo sapiens SYM 1 C11orf2 ID|HUgn0000738 DID|LocusLink:738 ORG|Homo sapiens RSQ|REFSEQ:NM_013265 RPA|REFPROT:NP_037397 DBA|XM:NM_013265 |NA:AF024631 |NA:AL833818 |NA:BC006555 |NA:BC007198 |NA:BC009285 |NA:BC010540 |NA:BC010872 |NA:BC017438 PAC|XP:NP_037397 SYM|C11orf2 NAM|chromosome 11 open reading frame2 SYN|ANG2 FNC|chromosome 11 open reading frame2 |biological_process unknown ; GO:0000004 CHR|11 PRD|chromosome 11 open reading frame2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=277517 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=738[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9476540 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013265 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013265 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=277517 DBL|UNIGENE:Hs.277517 |SNP:738 MAP|11q13 ENZ|molecular_function unknown ; GO:0005554 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 603; expect == 2e-172; MEOW:ref|XP_215181.2| (97%) |species == Mosquito; score == 580; expect == 1e-165; MEOW:AGgn0017704 (45%) |species == Fruitfly; gene == CG15087; score == 529; expect == 2e-150; MEOW:FBgn0034380 (42%) |species == Worm; gene == B0414.8; score == 283; expect == 2.3e-76; MEOW:CEgn0003503 (28%) |species == rice; score == 219; expect == 4.6e-57; MEOW:gnl|TIGR|8360.m04719 (26%) |species == Mouse; gene == 3110057M17Rik; score == 191; expect == 8.3e-50; MEOW:MGgn0022626 (97%) |species == Human; gene == LOC341145; score == 161; expect == 1.5e-39; MEOW:HUgn0341145 (90%) |species == Human; gene == LOC377060; score == 158; expect == 9.1e-40; MEOW:HUgn0377060 (68%) |species == Human; gene == LOC377618; score == 149; expect == 2.3e-37; MEOW:HUgn0377618 (68%) |species == Human; gene == LOC377620; score == 148; expect == 5.2e-37; MEOW:HUgn0377620 (67%) |species == Human; gene == LOC377624; score == 148; expect == 5.2e-37; MEOW:HUgn0377624 (67%) |species == Human; gene == LOC377141; score == 144; expect == 2.5e-34; MEOW:HUgn0377141 (88%) |species == Weed; gene == At4g02030; score == 133; expect == 3.0e-31; MEOW:ATgn0018472 (31%) } # EOR GENR { RETE|ID 1 HUgn0000739 CHR 1 11 DID 1 LocusLink:739 MAP 1 11q13 NAM 1 chromosome 11 open reading frame 3 ORG 1 Homo sapiens SYM 1 C11orf3 ID|HUgn0000739 DID|LocusLink:739 ORG|Homo sapiens SYM|C11orf3 NAM|chromosome 11 open reading frame 3 SYN|ANG3 CHR|11 PRD|chromosome 11 open reading frame 3 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9476645 } # EOR GENR { RETE|ID 1 HUgn0000740 CHR 1 11 DID 1 LocusLink:740 MAP 1 11q13 NAM 1 mitochondrial ribosomal protein L49 ORG 1 Homo sapiens SYM 1 MRPL49 ID|HUgn0000740 DID|LocusLink:740 ORG|Homo sapiens RSQ|REFSEQ:NM_004927 RPA|REFPROT:NP_004918 DBA|XM:NM_004927 |NA:AB062395 |NA:AK123252 |NA:AK129795 |NA:AK129986 |NA:BC004378 |NA:BG250495 |NA:U39400 |NA:none PAC|XP:NP_004918 SYM|MRPL49 NAM|mitochondrial ribosomal protein L49 SYN|NOF |NOF1 |L49mt |MGC10656 FNC|mitochondrial ribosomal protein L49 |cell growth and/or maintenance ; GO:0008151 |translational initiation ; GO:0006413 REAB|Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help |in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) |consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% |protein to rRNA composition compared to prokaryotic ribosomes, where this ratio |is reversed. Another difference between mammalian mitoribosomes and prokaryotic |ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins |comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical |properties, which prevents easy recognition by sequence homology. This gene encodes |a 39S subunit protein. This gene and the gene for the HRD1 protein use in their |respective 3' UTRs some of the same genomic sequence. Pseudogenes corresponding |to this gene are found on chromosomes 5q and 8p. CHR|11 PRD|next to FAU |neighbor of FAU URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75859 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=740[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9476728 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004927 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004927 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75859 DBL|UNIGENE:Hs.75859 |OMIM:606866 |SNP:740 MAP|11q13 ENZ|structural constituent of ribosome ; GO:0003735 |translation initiation factor activity ; GO:0003743 |molecular_function unknown ; GO:0005554 CEL|mitochondrion ; GO:0005739 |cellular_component unknown ; GO:0008372 HG|species == rat; score == 297; expect == 2.7e-81; MEOW:ref|XP_219525.1| (83%) |species == Mouse; gene == Mrpl49; score == 296; expect == 2.3e-81; MEOW:MGgn0008365 (83%) } # EOR GENR { RETE|ID 1 HUgn0000741 CHR 1 11 DID 1 LocusLink:741 MAP 1 11q13 NAM 1 chromosome 11 open reading frame 5 ORG 1 Homo sapiens SYM 1 C11orf5 ID|HUgn0000741 DID|LocusLink:741 ORG|Homo sapiens RSQ|REFSEQ:NM_014205 RPA|REFPROT:NP_055020 DBA|XM:NM_014205 |NA:AF119497 |NA:AK027081 |NA:BC038089 |NA:BC052240 |NA:BC057799 |NA:none PAC|XP:NP_055020 SYM|C11orf5 NAM|chromosome 11 open reading frame 5 SYN|FON |ZNHIT2 FNC|chromosome 11 open reading frame 5 CHR|11 PRD|zinc finger, HIT domain containing 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121025 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=741[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9477007 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014205 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014205 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=121025 DBL|UNIGENE:Hs.121025 |OMIM:604575 |SNP:741 MAP|11q13 HG|species == rat; score == 540; expect == 6e-154; MEOW:ref|XP_219526.2| (81%) |species == Mouse; gene == ORF6; score == 471; expect == 3e-133; MEOW:MGgn0013440 (81%) } # EOR GENR { RETE|ID 1 HUgn0000742 CHR 1 11 DID 1 LocusLink:742 MAP 1 11q13 NAM 1 chromosome 11 open reading frame 6 ORG 1 Homo sapiens SYM 1 C11orf6 ID|HUgn0000742 DID|LocusLink:742 ORG|Homo sapiens SYM|C11orf6 NAM|chromosome 11 open reading frame 6 SYN|NON CHR|11 PRD|chromosome 11 open reading frame 6 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9477134 } # EOR GENR { RETE|ID 1 HUgn0000744 CHR 1 11 DID 1 LocusLink:744 MAP 1 11p13 NAM 1 chromosome 11 open reading frame 8 ORG 1 Homo sapiens SYM 1 C11orf8 ID|HUgn0000744 DID|LocusLink:744 ORG|Homo sapiens RSQ|REFSEQ:NM_001584 RPA|REFPROT:NP_001575 DBA|XM:NM_001584 |NA:BC031582 |NA:U57911 |NA:none PAC|XP:NP_001575 SYM|C11orf8 NAM|chromosome 11 open reading frame 8 SYN|239FB |FAM1B |D11S302E |Hs.46638 FNC|chromosome 11 open reading frame 8 |neurogenesis ; GO:0007399 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432000 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=744[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835673 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001584 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001584 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=432000 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25499 DBL|UNIGENE:Hs.432000 |OMIM:600911 |SNP:744 MAP|11p13 ENZ|hydrolase activity ; GO:0016787 HG|species == Mouse; gene == 2700082O15Rik; score == 627; expect == 1e-180; MEOW:MGgn0021456 (99%) |species == rat; score == 624; expect == 2e-179; MEOW:ref|XP_342485.1| (99%) |species == Mouse; gene == D15Bwg0669e; score == 521; expect == 1e-148; MEOW:MGgn0002167 (79%) |species == rat; score == 521; expect == 2e-148; MEOW:ref|XP_343302.1| (79%) |species == Human; gene == C22orf1; score == 518; expect == 1e-147; MEOW:HUgn0000758 (81%) |species == Fruitfly; gene == CG16717; score == 249; expect == 7.4e-67; MEOW:FBgn0036028 (45%) |species == Mosquito; gene == LOC12720; score == 234; expect == 3.1e-62; MEOW:AGgn0012720 (42%) |species == Worm; gene == C25E10.12; score == 218; expect == 2.8e-57; MEOW:CEgn0005356 (43%) |species == Worm; gene == T07D4.2; score == 194; expect == 2.5e-50; MEOW:CEgn0015702 (41%) } # EOR GENR { RETE|ID 1 HUgn0000745 CHR 1 11 DID 1 LocusLink:745 MAP 1 11q12-q13.1 NAM 1 chromosome 11 open reading frame 9 ORG 1 Homo sapiens SYM 1 C11orf9 ID|HUgn0000745 DID|LocusLink:745 ORG|Homo sapiens RSQ|REFSEQ:NM_013279 RPA|REFPROT:NP_037411 DBA|XM:NM_013279 |NA:AB023171 |NA:AF038536 |NA:AF086762 |NA:BC004938 |NA:BC020196 PAC|XP:NP_037411 SYM|C11orf9 NAM|chromosome 11 open reading frame 9 SYN|KIAA0954 |MGC10781 FNC|chromosome 11 open reading frame 9 CHR|11 MAP|11q12-q13.1 DBL|SNP:745 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=745[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862821 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013279 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013279 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0954 HG|species == rat; score == 1626; expect == 0.0; MEOW:ref|XP_215195.2| (85%) |species == Worm; gene == F21A10.2a; score == 267; expect == 1.8e-71; MEOW:CEgn0031950 (35%) |species == Worm; gene == F21A10.2b; score == 267; expect == 1.9e-71; MEOW:CEgn0031951 (35%) } # EOR GENR { RETE|ID 1 HUgn0000746 CHR 1 11 DID 1 LocusLink:746 MAP 1 11q12-q13.1 NAM 1 chromosome 11 open reading frame 10 ORG 1 Homo sapiens SYM 1 C11orf10 ID|HUgn0000746 DID|LocusLink:746 ORG|Homo sapiens RSQ|REFSEQ:NM_014206 RPA|REFPROT:NP_055021 DBA|XM:NM_014206 |NA:AF070661 |NA:AF086763 |NA:BC002750 |NA:BC015968 |NA:none PAC|XP:NP_055021 SYM|C11orf10 NAM|chromosome 11 open reading frame 10 FNC|chromosome 11 open reading frame 10 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437779 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=746[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862823 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014206 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014206 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437779 DBL|UNIGENE:Hs.437779 |SNP:746 MAP|11q12-q13.1 } # EOR GENR { RETE|ID 1 HUgn0000747 CHR 1 11 DID 1 LocusLink:747 MAP 1 11q12.3 NAM 1 chromosome 11 open reading frame 11 ORG 1 Homo sapiens SYM 1 C11orf11 ID|HUgn0000747 DID|LocusLink:747 ORG|Homo sapiens RSQ|REFSEQ:NM_006133 RPA|REFPROT:NP_006124 DBA|XM:NM_006133 |NA:AB014559 |NA:AY275377 |NA:BI963857 PAC|XP:NP_006124 SYM|C11orf11 NAM|chromosome 11 open reading frame 11 SYN|NSDDR |KIAA0659 FNC|chromosome 11 open reading frame 11 |lipid metabolism ; GO:0006629 REAB|This gene encodes a protein of unknown function. Similar proteins exist in Drosophila, Anopheles, and C. elegans. CHR|11 PRD|neural stem cell-derived dendrite regulator URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=241564 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=747[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862825 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006133 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006133 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0659 DBL|UNIGENE:Hs.241564 |SNP:747 MAP|11q12.3 ENZ|triacylglycerol lipase activity ; GO:0004806 |catalytic activity ; GO:0003824 HG|species == rat; score == 1042; expect == 0.0; MEOW:ref|XP_219575.2| (94%) |species == Mosquito; gene == LOC18691; score == 546; expect == 1e-155; MEOW:AGgn0018691 (44%) |species == Fruitfly; gene == CG33174; score == 509; expect == 2e-144; MEOW:FBgn0053174 (42%) |species == Human; gene == LOC221955; score == 360; expect == 2.3e-99; MEOW:HUgn0221955 (33%) |species == Mouse; gene == E330036I19Rik; score == 350; expect == 2.1e-96; MEOW:MGgn0043834 (33%) |species == Worm; gene == F42G9.6a; score == 256; expect == 2.5e-68; MEOW:CEgn0032080 (28%) |species == Worm; gene == F42G9.6b; score == 245; expect == 9.8e-65; MEOW:CEgn0032081 (27%) } # EOR GENR { RETE|ID 1 HUgn0000749 CHR 1 16 DID 1 LocusLink:749 MAP 1 16 NAM 1 chromosome 16 open reading frame 2 ORG 1 Homo sapiens SYM 1 C16orf2 ID|HUgn0000749 DID|LocusLink:749 ORG|Homo sapiens SYM|C16orf2 NAM|chromosome 16 open reading frame 2 CHR|16 PRD|chromosome 16 open reading frame 2 MAP|16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9835573 } # EOR GENR { RETE|ID 1 HUgn0000750 CHR 1 16 DID 1 LocusLink:750 MAP 1 16q24.3 NAM 1 chromosome 16 open reading frame 3 ORG 1 Homo sapiens SYM 1 C16orf3 ID|HUgn0000750 DID|LocusLink:750 ORG|Homo sapiens RSQ|REFSEQ:NM_001214 RPA|REFPROT:NP_001205 DBA|XM:NM_001214 |NA:AF050080 |NA:AF050081 |NA:none PAC|XP:NP_001205 SYM|C16orf3 NAM|chromosome 16 open reading frame 3 SYN|EID1 FNC|chromosome 16 open reading frame 3 |biological_process unknown ; GO:0000004 CHR|16 DBL|OMIM:605179 |SNP:750 MAP|16q24.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9835569 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001214 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001214 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0000752 CHR 1 17 DID 1 LocusLink:752 MAP 1 17q21 NAM 1 formin-like ORG 1 Homo sapiens SYM 1 FMNL ID|HUgn0000752 DID|LocusLink:752 ORG|Homo sapiens RSQ|REFSEQ:NM_005892 RPA|REFPROT:NP_005883 DBA|XM:NM_005892 |NA:AF432213 |NA:AJ008112 |NA:AJ008118 |NA:AJ008119 |NA:AK131091 |NA:AY278319 |NA:BC001710 |NA:BC009000 |NA:BC021906 |NA:BC042925 |NA:none PAC|XP:NP_005883 SYM|FMNL NAM|formin-like SYN|FMNL1 |KW-13 |C17orf1 |MGC1894 |C17orf1B |MGC21878 FNC|formin-like REAB|This gene encodes a formin-related protein. Formin-related proteins have been implicated |in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant |has been described but its full length sequence has not been determined. CHR|17 PRD|leukocyte formin |CLL-associated antigen KW-13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=100217 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=752[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9743335 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005892 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005892 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=100217 DBL|UNIGENE:Hs.100217 |OMIM:604656 |SNP:752 MAP|17q21 HG|species == Mouse; gene == Fmnl; score == 747; expect == 0.0; MEOW:MGgn0014500 (89%) |species == rat; score == 743; expect == 0.0; MEOW:ref|XP_213487.2| (91%) |species == Human; gene == WBP3; score == 422; expect == 3e-118; MEOW:HUgn0091010 (56%) |species == Mouse; gene == 5430425K04Rik; score == 422; expect == 2e-118; MEOW:MGgn0025615 (56%) |species == rat; score == 414; expect == 7e-116; MEOW:ref|XP_229959.2| (53%) |species == Fruitfly; gene == CG32138; score == 328; expect == 1.4e-89; MEOW:FBgn0052138 (38%) |species == Mosquito; score == 292; expect == 1.7e-79; MEOW:AGgn0026353 (38%) |species == Mosquito; score == 271; expect == 3.1e-73; MEOW:AGgn0003373 (40%) |species == Worm; gene == Y48G9A.4; score == 240; expect == 3.8e-63; MEOW:CEgn0028472 (37%) |species == Weed; gene == At2g25050; score == 144; expect == 2.2e-34; MEOW:ATgn0008714 (27%) |species == Weed; gene == At5g07770; score == 137; expect == 2.8e-32; MEOW:ATgn0021396 (27%) |species == Weed; gene == At1g31810; score == 135; expect == 1.4e-31; MEOW:ATgn0001328 (28%) |species == rice; score == 131; expect == 5.3e-31; MEOW:gnl|TIGR|8351.m05697 (27%) } # EOR GENR { RETE|ID 1 HUgn0000753 CHR 1 18 DID 1 LocusLink:753 MAP 1 18p11.2 NAM 1 chromosome 18 open reading frame 1 ORG 1 Homo sapiens SYM 1 C18orf1 ID|HUgn0000753 DID|LocusLink:753 ORG|Homo sapiens RSQ|REFSEQ:NM_004338 RPA|REFPROT:NP_004329 DBA|XM:NM_004338 |NA:AF009428 |NA:AF009429 |NA:AF009430 |NA:AF009431 |NA:AF009432 |NA:AF009433 |NA:AF009434 |NA:AF009435 |NA:AF009436 |NA:AF009437 |NA:AF009424 |NA:AF009425 |NA:AF009426 |NA:AF009427 |NA:BC030199 |NA:none PAC|XP:NP_004329 SYM|C18orf1 NAM|chromosome 18 open reading frame 1 FNC|chromosome 18 open reading frame 1 isoform beta 1 |biological_process unknown ; GO:0000004 CHR|18 PRD|clone 22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=285091 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=753[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9784216 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004338 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004338 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=285091 DBL|UNIGENE:Hs.285091 |OMIM:606571 |SNP:753 MAP|18p11.2 ENZ|molecular_function unknown ; GO:0005554 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == D18Ertd653e; score == 426; expect == 6e-120; MEOW:MGgn0002390 (87%) |species == rat; score == 416; expect == 1e-116; MEOW:ref|XP_225854.2| (77%) |species == Human; gene == TMEPAI; score == 300; expect == 7.8e-82; MEOW:HUgn0056937 (67%) } # EOR GENR { RETE|ID 1 HUgn0000754 CHR 1 21 DID 1 LocusLink:754 MAP 1 21q22.3 NAM 1 pituitary tumor-transforming 1 interacting protein ORG 1 Homo sapiens SYM 1 PTTG1IP ID|HUgn0000754 DID|LocusLink:754 ORG|Homo sapiens RSQ|REFSEQ:NM_004339 RPA|REFPROT:NP_004330 DBA|XM:NM_004339 |NA:AF086503 |NA:AF149785 |NA:AK094882 |NA:AK095586 |NA:BC000415 |NA:BC012858 |NA:BC013729 |NA:BC019295 |NA:BC020983 |NA:BC031097 |NA:BC034250 |NA:L48984 |NA:Z50022 |NA:none PAC|XP:NP_004330 SYM|PTTG1IP NAM|pituitary tumor-transforming 1 interacting protein SYN|PBF |C21ORF1 |C21ORF3 FNC|pituitary tumor-transforming gene 1 protein-interacting protein precursor |protein-nucleus import ; GO:0006606 |development ; GO:0007275 REAB|The encoded protein, which directly binds to pituitary tumor-transforming gene 1 |protein (PTTG1), facilitates the nuclear translocation of PTTG1 and potentiates |the transcriptional activation of basic fibroblast growth factor by PTTG1. The gene |product localizes to both the cytoplasm and nucleus. Its NLS is required for its |own nuclear localization, the nuclear localization of PTTG1, and its interaction |with PTTG1. CHR|21 PRD|PTTG-binding factor precursor |putative surface glycoprotein C21orf1 precursor |chromosome 21 open reading frame 1 protein precursor |chromosome 21 open reading frame 3 protein precursor |pituitary tumor-transforming gene protein-binding factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=369026 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=754[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9032971 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004339 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004339 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=369026 DBL|UNIGENE:Hs.369026 |OMIM:603784 |SNP:754 MAP|21q22.3 ENZ|molecular_function unknown ; GO:0005554 CEL|integral to membrane ; GO:0016021 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == 1810010L20Rik; score == 192; expect == 5.6e-50; MEOW:MGgn0018534 (74%) |species == rat; score == 163; expect == 3.5e-41; MEOW:ref|XP_345092.1| (75%) } # EOR GENR { RETE|ID 1 HUgn0000755 CHR 1 21 DID 1 LocusLink:755 MAP 1 21q22.3 NAM 1 chromosome 21 open reading frame 2 ORG 1 Homo sapiens SYM 1 C21orf2 ID|HUgn0000755 DID|LocusLink:755 ORG|Homo sapiens RSQ|REFSEQ:NM_004928 RPA|REFPROT:NP_004919 DBA|XM:NM_004928 |NA:BC031300 |NA:U84569 |NA:U84570 |NA:Y11392 |NA:Z93322 |NA:none PAC|XP:NP_004919 SYM|C21orf2 NAM|chromosome 21 open reading frame 2 SYN|A2 |YF5 FNC|chromosome 21 open reading frame 2 |biological_process unknown ; GO:0000004 CHR|21 PRD|nuclear encoded mitochondrial protein, cDNA A2-YF5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155361 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=755[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9083506 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004928 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004928 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155361 DBL|UNIGENE:Hs.155361 |OMIM:603191 |SNP:755 MAP|21q22.3 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 311; expect == 2.7e-85; MEOW:ref|XP_228068.2| (72%) |species == Mouse; gene == 1810043G02Rik; score == 281; expect == 4.1e-76; MEOW:MGgn0018750 (68%) |species == Fruitfly; gene == CG14995; score == 151; expect == 1.7e-37; MEOW:FBgn0035497 (53%) |species == Mosquito; gene == LOC4511; score == 136; expect == 2.6e-32; MEOW:AGgn0004511 (49%) |species == Worm; gene == F09G8.5; score == 132; expect == 1.7e-31; MEOW:CEgn0008047 (47%) } # EOR GENR { RETE|ID 1 HUgn0000757 CHR 1 21 DID 1 LocusLink:757 MAP 1 21q22.11 NAM 1 chromosome 21 open reading frame 4 ORG 1 Homo sapiens SYM 1 C21orf4 ID|HUgn0000757 DID|LocusLink:757 ORG|Homo sapiens RSQ|REFSEQ:NM_006134 RPA|REFPROT:NP_006125 DBA|XM:NM_006134 |NA:AF039906 |NA:AF045606 |NA:BC000569 |NA:none PAC|XP:NP_006125 SYM|C21orf4 NAM|chromosome 21 open reading frame 4 FNC|chromosome 21 open reading frame 4 |biological_process unknown ; GO:0000004 CHR|21 PRD|chromosome 21 open reading frame 4 (Interferon receptor cluster) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433668 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=757[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834785 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006134 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006134 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433668 DBL|UNIGENE:Hs.433668 |SNP:757 MAP|21q22.11 ENZ|molecular_function unknown ; GO:0005554 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == B230114J08Rik; score == 328; expect == 6.6e-91; MEOW:MGgn0027691 (98%) |species == rat; score == 328; expect == 9.7e-91; MEOW:ref|XP_340969.1| (98%) |species == Human; gene == SMP1; score == 242; expect == 6.9e-65; MEOW:HUgn0023585 (68%) |species == Worm; gene == Y74C10AL.2; score == 153; expect == 3.0e-38; MEOW:CEgn0028855 (50%) } # EOR GENR { RETE|ID 1 HUgn0000758 CHR 1 22 DID 1 LocusLink:758 MAP 1 22q13.31 NAM 1 chromosome 22 open reading frame 1 ORG 1 Homo sapiens SYM 1 C22orf1 ID|HUgn0000758 DID|LocusLink:758 ORG|Homo sapiens RSQ|REFSEQ:NM_001585 RPA|REFPROT:NP_001576 DBA|XM:XM_351417 |NA:BC028035 |NA:U84894 |NA:none PAC|XP:XP_351418 SYM|C22orf1 NAM|chromosome 22 open reading frame 1 SYN|239AB |FAM1A FNC|chromosome 22 open reading frame 1 CHR|22 PRD|adult brain protein 239 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159538 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=758[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835676 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC028035 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC028035 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159538 DBL|UNIGENE:Hs.159538 |OMIM:602112 |SNP:758 MAP|22q13.31 HG|species == rat; score == 686; expect == 0.0; MEOW:ref|XP_343302.1| (98%) |species == Mouse; gene == D15Bwg0669e; score == 683; expect == 0.0; MEOW:MGgn0002167 (98%) |species == Human; gene == C11orf8; score == 518; expect == 1e-147; MEOW:HUgn0000744 (81%) |species == Fruitfly; gene == CG16717; score == 259; expect == 8.2e-70; MEOW:FBgn0036028 (46%) |species == Mosquito; gene == LOC12720; score == 248; expect == 1.8e-66; MEOW:AGgn0012720 (45%) |species == Worm; gene == C25E10.12; score == 214; expect == 3.6e-56; MEOW:CEgn0005356 (43%) |species == Worm; gene == T07D4.2; score == 186; expect == 1.4e-47; MEOW:CEgn0015702 (38%) |species == Worm; gene == K07C11.7a; score == 183; expect == 6.8e-47; MEOW:CEgn0032288 (42%) |species == Worm; gene == K07C11.7b; score == 183; expect == 6.8e-47; MEOW:CEgn0032289 (42%) } # EOR GENR { RETE|ID 1 HUgn0000759 CHR 1 8 DID 1 LocusLink:759 MAP 1 8q13-q22.1 NAM 1 carbonic anhydrase I ORG 1 Homo sapiens SYM 1 CA1 ID|HUgn0000759 DID|LocusLink:759 ORG|Homo sapiens RSQ|REFSEQ:NM_001738 RPA|REFPROT:NP_001729 DBA|XM:NM_001738 |NA:BC027890 |NA:M33987 |NA:X05014 |NA:none PAC|XP:NP_001729 SYM|CA1 NAM|carbonic anhydrase I FNC|carbonic anhydrase I |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic |protein which is found at the highest level in erythrocytes. Transcript variants |of CA1 utilizing alternative polyA_sites have been described in literature. CHR|8 PRD|carbonic dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23118 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=759[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119047 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001738 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001738 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=23118 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.23118 |OMIM:114800 |SNP:759 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|8q13-q22.1 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Car1; score == 444; expect == 2e-125; MEOW:MGgn0001030 (78%) |species == rat; score == 429; expect == 1e-120; MEOW:ref|XP_226922.2| (81%) |species == Zfish; gene == cahz; score == 331; expect == 1.5e-92; MEOW:ZFgn0000123 (60%) |species == Human; gene == LOC377677; score == 328; expect == 1.8e-90; MEOW:HUgn0377677 (60%) |species == Human; gene == CA2; score == 323; expect == 5.7e-89; MEOW:HUgn0000760 (60%) |species == Human; gene == CA3; score == 302; expect == 1.4e-82; MEOW:HUgn0000761 (54%) |species == Human; gene == CA7; score == 290; expect == 5.4e-79; MEOW:HUgn0000766 (51%) |species == Mosquito; gene == LOC16412; score == 212; expect == 1.1e-55; MEOW:AGgn0016412 (46%) |species == Fruitfly; gene == CAH1; score == 212; expect == 1.1e-55; MEOW:FBgn0027844 (47%) |species == Worm; gene == cah-5; score == 143; expect == 5.7e-35; MEOW:CEgn0015060 (34%) |species == Worm; gene == cah-3; score == 135; expect == 1.5e-32; MEOW:CEgn0013295 (33%) } # EOR GENR { RETE|ID 1 HUgn0000760 CHR 1 8 DID 1 LocusLink:760 MAP 1 8q22 NAM 1 carbonic anhydrase II ORG 1 Homo sapiens SYM 1 CA2 ID|HUgn0000760 DID|LocusLink:760 ORG|Homo sapiens RSQ|REFSEQ:NM_000067 RPA|REFPROT:NP_000058 DBA|XM:NM_000067 |NA:M77181 |NA:X03251 |NA:BC011949 |NA:BC035424 |NA:J03037 |NA:M36532 |NA:Y00339 |NA:none PAC|XP:NP_000058 SYM|CA2 NAM|carbonic anhydrase II SYN|CA-II FNC|carbonic anhydrase II |one-carbon compound metabolism ; GO:0006730 REAB|CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase |catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated |with osteopetrosis and renal tubular acidosis. CHR|8 PRD|carbonic anhydrase B |carbonic dehydratase |carbonate dehydratase II URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155097 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=760[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119739 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000067 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000067 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155097 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.155097 |OMIM:259730 |SNP:760 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|8q22 PHP|Renal tubular acidosis-osteopetrosis syndrome CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Car2; score == 450; expect == 3e-127; MEOW:MGgn0001034 (80%) |species == rat; score == 448; expect == 1e-126; MEOW:ref|NP_062164.1| (80%) |species == Zfish; gene == cahz; score == 353; expect == 3.7e-99; MEOW:ZFgn0000123 (63%) |species == Human; gene == CA3; score == 329; expect == 8.0e-91; MEOW:HUgn0000761 (58%) |species == Human; gene == CA1; score == 323; expect == 5.7e-89; MEOW:HUgn0000759 (60%) |species == Human; gene == LOC377677; score == 321; expect == 2.2e-88; MEOW:HUgn0377677 (60%) |species == Human; gene == CA7; score == 314; expect == 2.7e-86; MEOW:HUgn0000766 (56%) |species == Human; gene == CA5B; score == 283; expect == 6.6e-77; MEOW:HUgn0011238 (54%) |species == Human; gene == CA5A; score == 264; expect == 4.1e-71; MEOW:HUgn0000763 (52%) |species == Fruitfly; gene == CAH1; score == 224; expect == 1.6e-59; MEOW:FBgn0027844 (45%) |species == Mosquito; gene == LOC16412; score == 208; expect == 2.0e-54; MEOW:AGgn0016412 (44%) |species == Worm; gene == cah-3; score == 146; expect == 6.6e-36; MEOW:CEgn0013295 (35%) |species == Worm; gene == cah-5; score == 146; expect == 6.6e-36; MEOW:CEgn0015060 (35%) } # EOR GENR { RETE|ID 1 HUgn0000761 CHR 1 8 DID 1 LocusLink:761 MAP 1 8q13-q22 NAM 1 carbonic anhydrase III, muscle specific ORG 1 Homo sapiens SYM 1 CA3 ID|HUgn0000761 DID|LocusLink:761 ORG|Homo sapiens RSQ|REFSEQ:NM_005181 RPA|REFPROT:NP_005172 DBA|XM:NM_005181 |NA:AJ006473 |NA:M29452 |NA:M29453 |NA:M29454 |NA:M29455 |NA:M29456 |NA:M29457 |NA:M29458 |NA:AK096880 |NA:BC004897 |NA:none PAC|XP:NP_005172 SYM|CA3 NAM|carbonic anhydrase III, muscle specific SYN|CAIII FNC|carbonic anhydrase III |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate |genes are known) that encode carbonic anhydrase isozymes. These carbonic anhydrases |are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide |and are differentially expressed in a number of cell types. The expression of the |CA3 gene is strictly tissue specific and present at high levels in skeletal muscle |and much lower levels in cardiac and smooth muscle. A proportion of carriers of |Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 |kb and contains seven exons and six introns. CHR|8 PRD|Carbonic anhydrase III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82129 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=761[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119740 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005181 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005181 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82129 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25990 DBL|UNIGENE:Hs.82129 |OMIM:114750 |SNP:761 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|8q13-q22 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Car3; score == 518; expect == 6e-148; MEOW:MGgn0001035 (91%) |species == rat; score == 515; expect == 8e-147; MEOW:ref|NP_062165.2| (91%) |species == Human; gene == CA2; score == 329; expect == 8.0e-91; MEOW:HUgn0000760 (58%) |species == Human; gene == LOC377677; score == 307; expect == 3.2e-84; MEOW:HUgn0377677 (58%) |species == Zfish; gene == cahz; score == 306; expect == 5.2e-85; MEOW:ZFgn0000123 (55%) |species == Human; gene == CA1; score == 302; expect == 1.4e-82; MEOW:HUgn0000759 (54%) |species == Human; gene == CA7; score == 288; expect == 1.6e-78; MEOW:HUgn0000766 (50%) |species == Mosquito; gene == LOC16412; score == 207; expect == 3.4e-54; MEOW:AGgn0016412 (42%) |species == Fruitfly; gene == CAH1; score == 201; expect == 1.5e-52; MEOW:FBgn0027844 (40%) |species == Worm; gene == cah-5; score == 157; expect == 4.9e-39; MEOW:CEgn0015060 (35%) |species == Worm; gene == cah-3; score == 137; expect == 3.1e-33; MEOW:CEgn0013295 (32%) } # EOR GENR { RETE|ID 1 HUgn0000762 CHR 1 17 DID 1 LocusLink:762 MAP 1 17q23 NAM 1 carbonic anhydrase IV ORG 1 Homo sapiens SYM 1 CA4 ID|HUgn0000762 DID|LocusLink:762 ORG|Homo sapiens RSQ|REFSEQ:NM_000717 RPA|REFPROT:NP_000708 DBA|XM:NM_000717 |NA:L10955 |NA:BC057792 |NA:M83670 |NA:none PAC|XP:NP_000708 SYM|CA4 NAM|carbonic anhydrase IV SYN|CAIV FNC|carbonic anhydrase IV precursor |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA IV is a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on |the luminal surfaces of pulmonary (and certain other) capillaries and of proximal |renal tubules. Its exact function is not known, however, it may have a role in |inherited renal abnormalities of bicarbonate transport. CHR|17 PRD|carbonic dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89485 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=762[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000717 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000717 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89485 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.89485 |OMIM:114760 |SNP:762 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|17q23 CEL|membrane ; GO:0016020 |membrane fraction ; GO:0005624 HG|species == rat; score == 332; expect == 2.1e-91; MEOW:ref|NP_062047.1| (58%) |species == Mouse; gene == Car4; score == 316; expect == 1.1e-86; MEOW:MGgn0001036 (54%) |species == Mosquito; gene == LOC11013; score == 143; expect == 6.0e-35; MEOW:AGgn0011013 (36%) |species == Human; gene == CA14; score == 142; expect == 1.8e-34; MEOW:HUgn0023632 (35%) |species == Human; gene == CA12; score == 136; expect == 2.2e-32; MEOW:HUgn0000771 (36%) |species == Human; gene == CA7; score == 131; expect == 7.1e-31; MEOW:HUgn0000766 (34%) |species == Zfish; gene == cahz; score == 127; expect == 5.5e-31; MEOW:ZFgn0000123 (36%) } # EOR GENR { RETE|ID 1 HUgn0000763 CHR 1 16 DID 1 LocusLink:763 MAP 1 16q24.3 NAM 1 carbonic anhydrase VA, mitochondrial ORG 1 Homo sapiens SYM 1 CA5A ID|HUgn0000763 DID|LocusLink:763 ORG|Homo sapiens RSQ|REFSEQ:NM_001739 RPA|REFPROT:NP_001730 DBA|XM:NM_001739 |NA:S80181 |NA:U25134 |NA:L19297 |NA:none PAC|XP:NP_001730 SYM|CA5A NAM|carbonic anhydrase VA, mitochondrial SYN|CA5 |CAV |CAVA FNC|carbonic anhydrase VA, mitochondrial precursor |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA VA is localized in the mitochondria and expressed primarily in the liver. It |may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to |chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. CHR|16 PRD|carbonic dehydratase |carbonic anhydrase V, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177446 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=763[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:218380 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001739 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001739 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.177446 |OMIM:114761 |SNP:763 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|16q24.3 CEL|mitochondrial matrix ; GO:0005759 HG|species == rat; score == 444; expect == 3e-125; MEOW:ref|NP_062166.1| (70%) |species == Mouse; gene == Car5a; score == 430; expect == 3e-121; MEOW:MGgn0001037 (74%) |species == Human; gene == CA5B; score == 389; expect == 1e-108; MEOW:HUgn0011238 (64%) |species == Mouse; gene == Car5b; score == 384; expect == 2e-107; MEOW:MGgn0014771 (64%) |species == rat; score == 379; expect == 9e-106; MEOW:ref|XP_217611.2| (64%) |species == Human; gene == LOC374715; score == 312; expect == 1.1e-85; MEOW:HUgn0374715 (71%) |species == Zfish; gene == cahz; score == 267; expect == 2.5e-73; MEOW:ZFgn0000123 (52%) |species == Fruitfly; gene == CAH1; score == 191; expect == 3.3e-49; MEOW:FBgn0027844 (41%) |species == Mosquito; gene == LOC16412; score == 189; expect == 1.2e-48; MEOW:AGgn0016412 (43%) |species == Mosquito; score == 159; expect == 7.8e-40; MEOW:AGgn0029518 (42%) |species == Worm; gene == cah-3; score == 131; expect == 3.6e-31; MEOW:CEgn0013295 (37%) } # EOR GENR { RETE|ID 1 HUgn0000764 CHR 1 16 DID 1 LocusLink:764 MAP 1 16p12-p11.2 NAM 1 carbonic anhydrase V pseudogene ORG 1 Homo sapiens SYM 1 CA5P ID|HUgn0000764 DID|LocusLink:764 CLA|Pseudogene ORG|Homo sapiens SYM|CA5P NAM|carbonic anhydrase V pseudogene CHR|16 MAP|16p12-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:636805 } # EOR GENR { RETE|ID 1 HUgn0000765 CHR 1 1 DID 1 LocusLink:765 MAP 1 1p36.2 NAM 1 carbonic anhydrase VI ORG 1 Homo sapiens SYM 1 CA6 ID|HUgn0000765 DID|LocusLink:765 ORG|Homo sapiens RSQ|REFSEQ:NM_001215 RPA|REFPROT:NP_001206 DBA|XM:NM_001215 |NA:M57892 |NA:none PAC|XP:NP_001206 SYM|CA6 NAM|carbonic anhydrase VI SYN|GUSTIN FNC|carbonic anhydrase VI precursor |one-carbon compound metabolism ; GO:0006730 REAB|CA6 is one of several isozymes of carbonic anhydrase. CA6 is found only in salivary |glands and saliva. The protein may play a role in reversible hydratation of carbon |dioxide though its function in saliva is unknown. CHR|1 PRD|gustin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=100322 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=765[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125350 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001215 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001215 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.100322 |OMIM:114780 |SNP:765 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|1p36.2 HG|species == rat; score == 347; expect == 6.2e-96; MEOW:ref|XP_216584.2| (56%) |species == Mouse; gene == Car6; score == 271; expect == 2.8e-73; MEOW:MGgn0001038 (56%) |species == Human; gene == CA9; score == 188; expect == 2.8e-48; MEOW:HUgn0000768 (39%) |species == Human; gene == CA14; score == 188; expect == 3.2e-48; MEOW:HUgn0023632 (37%) |species == Human; gene == CA12; score == 184; expect == 5.3e-47; MEOW:HUgn0000771 (39%) |species == Zfish; gene == cahz; score == 159; expect == 1.1e-39; MEOW:ZFgn0000123 (36%) |species == Human; gene == CA7; score == 158; expect == 3.3e-39; MEOW:HUgn0000766 (37%) |species == Mosquito; gene == LOC11013; score == 151; expect == 2.8e-37; MEOW:AGgn0011013 (36%) |species == Human; gene == CA2; score == 151; expect == 6.5e-37; MEOW:HUgn0000760 (34%) |species == Mosquito; score == 132; expect == 1.8e-31; MEOW:AGgn0001278 (32%) |species == Fruitfly; gene == CG6074; score == 132; expect == 3.2e-31; MEOW:FBgn0039486 (32%) } # EOR GENR { RETE|ID 1 HUgn0000766 CHR 1 16 DID 1 LocusLink:766 MAP 1 16q22.1 NAM 1 carbonic anhydrase VII ORG 1 Homo sapiens SYM 1 CA7 ID|HUgn0000766 DID|LocusLink:766 ORG|Homo sapiens RSQ|REFSEQ:NM_005182 RPA|REFPROT:NP_005173 DBA|XM:NM_005182 |NA:AC004638 |NA:M76420 |NA:M76421 |NA:M76422 |NA:M76423 |NA:M76424 |NA:M76425 |NA:AY075019 |NA:AY075020 |NA:BC033865 |NA:none PAC|XP:NP_005173 SYM|CA7 NAM|carbonic anhydrase VII FNC|carbonic anhydrase VII |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA VII is a cytosolic protein and is predominantly expressed in the salivary glands. CHR|16 PRD|carbonic dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37014 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=766[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119741 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005182 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005182 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=37014 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.37014 |OMIM:114770 |SNP:766 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|16q22.1 HG|species == rat; score == 527; expect == 2e-150; MEOW:ref|XP_226204.2| (94%) |species == Mouse; gene == Car7; score == 526; expect == 3e-150; MEOW:MGgn0001039 (94%) |species == Zfish; gene == cahz; score == 328; expect == 1.4e-90; MEOW:ZFgn0000123 (60%) |species == Human; gene == CA2; score == 314; expect == 2.7e-86; MEOW:HUgn0000760 (56%) |species == Human; gene == CA1; score == 290; expect == 5.4e-79; MEOW:HUgn0000759 (51%) |species == Human; gene == LOC377677; score == 290; expect == 5.5e-79; MEOW:HUgn0377677 (54%) |species == Human; gene == CA3; score == 288; expect == 1.6e-78; MEOW:HUgn0000761 (50%) |species == Human; gene == CA5B; score == 278; expect == 1.7e-75; MEOW:HUgn0011238 (52%) |species == Human; gene == CA5A; score == 263; expect == 5.5e-71; MEOW:HUgn0000763 (51%) |species == Fruitfly; gene == CAH1; score == 229; expect == 1.5e-60; MEOW:FBgn0027844 (46%) |species == Mosquito; gene == LOC16412; score == 219; expect == 1.7e-57; MEOW:AGgn0016412 (44%) |species == Worm; gene == cah-5; score == 157; expect == 3.0e-39; MEOW:CEgn0015060 (37%) |species == Worm; gene == cah-3; score == 152; expect == 1.6e-37; MEOW:CEgn0013295 (36%) |species == Worm; gene == cah-2; score == 139; expect == 1.1e-33; MEOW:CEgn0007311 (33%) } # EOR GENR { RETE|ID 1 HUgn0000767 CHR 1 8 DID 1 LocusLink:767 MAP 1 8q11-q12 NAM 1 carbonic anhydrase VIII ORG 1 Homo sapiens SYM 1 CA8 ID|HUgn0000767 DID|LocusLink:767 ORG|Homo sapiens RSQ|REFSEQ:NM_004056 RPA|REFPROT:NP_004047 DBA|XM:NM_004056 |NA:AK090655 |NA:AY075022 |NA:L04656 |NA:none |NA:BC015531 PAC|XP:NP_004047 SYM|CA8 NAM|carbonic anhydrase VIII SYN|CALS |CARP |CA-VIII FNC|carbonic anhydrase VIII |one-carbon compound metabolism ; GO:0006730 REAB|The protein encoded by this gene was initially named CA-related protein because of |sequence similarity to other known carbonic anhydrase genes. However, the gene product |lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). |The gene product continues to carry a carbonic anhydrase designation based on clear |sequence identity to other members of the carbonic anhydrase gene family. The absence |of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a |neurologic defect suggests an important role for this acatalytic form. CHR|8 PRD|CA-related protein |carbonate dehydratase |carbonic anhydrase-like sequence |carbonic anhydrase-related protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250502 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=767[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141839 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004056 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004056 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.250502 |OMIM:114815 |SNP:767 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 MAP|8q11-q12 HG|species == rat; score == 533; expect == 3e-152; MEOW:ref|XP_216329.2| (98%) |species == Mouse; gene == Car8; score == 530; expect == 3e-151; MEOW:MGgn0001001 (94%) |species == Human; gene == CA7; score == 214; expect == 2.9e-56; MEOW:HUgn0000766 (41%) |species == Human; gene == CA2; score == 200; expect == 7.3e-52; MEOW:HUgn0000760 (41%) |species == Human; gene == CA1; score == 196; expect == 1.4e-50; MEOW:HUgn0000759 (38%) |species == Zfish; gene == cahz; score == 195; expect == 2.3e-50; MEOW:ZFgn0000123 (41%) |species == Human; gene == LOC377677; score == 186; expect == 1.2e-47; MEOW:HUgn0377677 (37%) |species == Human; gene == CA5B; score == 184; expect == 5.5e-47; MEOW:HUgn0011238 (38%) |species == Human; gene == CA3; score == 179; expect == 1.7e-45; MEOW:HUgn0000761 (37%) |species == Human; gene == CA5A; score == 178; expect == 3.7e-45; MEOW:HUgn0000763 (38%) |species == Mosquito; gene == LOC16412; score == 177; expect == 7.2e-45; MEOW:AGgn0016412 (37%) |species == Fruitfly; gene == CAH1; score == 173; expect == 7.7e-44; MEOW:FBgn0027844 (38%) |species == Fruitfly; gene == CG6906; score == 140; expect == 9.8e-34; MEOW:FBgn0036261 (35%) } # EOR GENR { RETE|ID 1 HUgn0000768 CHR 1 9 DID 1 LocusLink:768 MAP 1 9p13-p12 NAM 1 carbonic anhydrase IX ORG 1 Homo sapiens SYM 1 CA9 ID|HUgn0000768 DID|LocusLink:768 ORG|Homo sapiens RSQ|REFSEQ:NM_001216 RPA|REFPROT:NP_001207 DBA|XM:NM_001216 |NA:Z54349 |NA:AJ010588 |NA:BC014950 |NA:X66839 |NA:none PAC|XP:NP_001207 SYM|CA9 NAM|carbonic anhydrase IX SYN|MN FNC|carbonic anhydrase IX precursor |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA IX is a transmembrane protein and the only tumor-associated carbonic anhydrase |isoenzyme known. It is expressed in all clear-cell renal cell carcinoma, but is |not detected in normal kidney or most other normal tissues. It may be involved |in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence |in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. CHR|9 PRD|carbonic dehydratase |RCC-associated protein G250 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=63287 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=768[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4384339 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001216 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001216 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=63287 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.63287 |OMIM:603179 |SNP:768 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|9p13-p12 CEL|integral to membrane ; GO:0016021 |nucleus ; GO:0005634 HG|species == Mouse; gene == Car9; score == 521; expect == 2e-148; MEOW:MGgn0043117 (67%) |species == rat; score == 491; expect == 4e-139; MEOW:ref|XP_233380.2| (67%) |species == Human; gene == CA14; score == 206; expect == 1.5e-53; MEOW:HUgn0023632 (43%) |species == Human; gene == CA12; score == 198; expect == 6.0e-51; MEOW:HUgn0000771 (36%) |species == Human; gene == CA6; score == 188; expect == 2.8e-48; MEOW:HUgn0000765 (39%) |species == Zfish; gene == cahz; score == 151; expect == 4.3e-38; MEOW:ZFgn0000123 (36%) |species == Mosquito; gene == LOC11013; score == 136; expect == 9.9e-33; MEOW:AGgn0011013 (34%) |species == Mosquito; score == 132; expect == 2.6e-31; MEOW:AGgn0014948 (37%) |species == Fruitfly; gene == CG6074; score == 131; expect == 4.1e-31; MEOW:FBgn0039486 (35%) } # EOR GENR { RETE|ID 1 HUgn0000770 CHR 1 19 DID 1 LocusLink:770 MAP 1 19q13.3 NAM 1 carbonic anhydrase XI ORG 1 Homo sapiens SYM 1 CA11 ID|HUgn0000770 DID|LocusLink:770 ORG|Homo sapiens RSQ|REFSEQ:NM_001217 RPA|REFPROT:NP_001208 DBA|XM:NM_001217 |NA:AB018195 |NA:AF050106 |NA:AF067662 |NA:AY358967 |NA:BC002662 |NA:BT007265 |NA:none PAC|XP:NP_001208 SYM|CA11 NAM|carbonic anhydrase XI SYN|CARP2 |CA-RP XI FNC|carbonic anhydrase XI precursor |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA XI is likely a secreted protein, however, radical changes at active site residues |completely conserved in CA isozymes with catalytic activity, make it unlikely that |it has carbonic anhydrase activity. It shares properties in common with two other |acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in |brain, and may play a general role in the central nervous system. CHR|19 PRD|carbonic anhydrase-related protein 2 |carbonic anhydrase-related protein XI URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=428446 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=770[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862833 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001217 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001217 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=428446 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.428446 |OMIM:604644 |SNP:770 MAP|19q13.3 ENZ|carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 HG|species == rat; score == 631; expect == 0.0; MEOW:ref|NP_783639.1| (97%) |species == Mouse; gene == Car11; score == 630; expect == 0.0; MEOW:MGgn0001032 (96%) |species == Human; gene == CA10; score == 364; expect == 3e-101; MEOW:HUgn0056934 (60%) |species == Fruitfly; gene == CG32698; score == 209; expect == 1.7e-54; MEOW:FBgn0052698 (39%) |species == Mosquito; score == 197; expect == 3.7e-51; MEOW:AGgn0011908 (38%) |species == Mosquito; score == 193; expect == 1.5e-49; MEOW:AGgn0001574 (36%) |species == Worm; gene == cah-2; score == 157; expect == 4.0e-39; MEOW:CEgn0007311 (35%) } # EOR GENR { RETE|ID 1 HUgn0000771 CHR 1 15 DID 1 LocusLink:771 MAP 1 15q22 NAM 1 carbonic anhydrase XII ORG 1 Homo sapiens SYM 1 CA12 ID|HUgn0000771 DID|LocusLink:771 ORG|Homo sapiens RSQ|REFSEQ:NM_001218 RPA|REFPROT:NP_001209 DBA|XM:NM_001218 |NA:AF037335 |NA:AF051882 |NA:AK096845 |NA:BC000278 |NA:BC011691 |NA:BC023981 |NA:BT006656 |NA:none PAC|XP:NP_001209 SYM|CA12 NAM|carbonic anhydrase XII FNC|carbonic anhydrase XII precursor |one-carbon compound metabolism ; GO:0006730 REAB|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze |the reversible hydration of carbon dioxide. They participate in a variety of biological |processes, including respiration, calcification, acid-base balance, bone resorption, |and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. | They show extensive diversity in tissue distribution and in their subcellular localization. | CA XII is predicted to be a type I membrane protein and is most closely related |to the other transmembrane CA isoform, CA IX. However, unlike CA IX, which is expressed |in clear-cell renal cell carcinoma, but not in normal kidney or most other normal |tissues, CA XII is highly expressed in normal tissues, such as kidney, colon and |pancreas. CHR|15 PRD|carbonic dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279916 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=771[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862834 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001218 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001218 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=279916 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 DBL|UNIGENE:Hs.279916 |OMIM:603263 |SNP:771 ENZ|EC:4.2.1.1 |carbonate dehydratase activity ; GO:0004089 |zinc ion binding ; GO:0008270 |lyase activity ; GO:0016829 MAP|15q22 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == 2310047E01Rik; score == 563; expect == 4e-161; MEOW:MGgn0019947 (81%) |species == rat; score == 549; expect == 7e-157; MEOW:ref|XP_343417.1| (79%) |species == Human; gene == CA14; score == 257; expect == 7.8e-69; MEOW:HUgn0023632 (42%) |species == Zfish; gene == cahz; score == 165; expect == 2.1e-42; MEOW:ZFgn0000123 (35%) |species == Mosquito; gene == LOC11013; score == 144; expect == 3.2e-35; MEOW:AGgn0011013 (34%) |species == Fruitfly; gene == CG32698; score == 143; expect == 1.5e-34; MEOW:FBgn0052698 (33%) |species == Fruitfly; gene == CAH1; score == 139; expect == 1.1e-33; MEOW:FBgn0027844 (34%) |species == Mosquito; gene == LOC16412; score == 132; expect == 1.6e-31; MEOW:AGgn0016412 (33%) } # EOR GENR { RETE|ID 1 HUgn0000772 CHR 1 17 DID 1 LocusLink:772 MAP 1 17p NAM 1 central areolar choroidal dystrophy ORG 1 Homo sapiens SYM 1 CACD ID|HUgn0000772 DID|LocusLink:772 ORG|Homo sapiens SYM|CACD NAM|central areolar choroidal dystrophy CHR|17 DBL|OMIM:215500 MAP|17p PHP|Choroidal dystrophy, central areolar URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5885801 } # EOR GENR { RETE|ID 1 HUgn0000773 CHR 1 19 DID 1 LocusLink:773 MAP 1 19p13.2-p13.1 NAM 1 calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ORG 1 Homo sapiens SYM 1 CACNA1A ID|HUgn0000773 DID|LocusLink:773 ORG|Homo sapiens RSQ|REFSEQ:NM_000068 |REFSEQ:NM_023035 RPA|REFPROT:NP_000059 |REFPROT:NP_075461 DBA|XM:NM_000068 |XM:NM_023035 |NA:AC005305 |NA:AF144098 |NA:AF152345 |NA:AB035726 |NA:AB035727 |NA:AF004883 |NA:AF004884 |NA:AF100774 |NA:S76537 |NA:U79663 |NA:U79664 |NA:U79665 |NA:U79666 |NA:U79667 |NA:U79668 |NA:X99897 |NA:none PAC|XP:NP_000059 |XP:NP_075461 SYM|CACNA1A NAM|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit SYN|EA2 |FHM |MHP |APCA |HPCA |MHP1 |SCA6 |CACNL1A4 FNC|calcium channel, alpha 1A subunit isoform 1 |calcium channel, alpha 1A subunit isoform 2 |cation transport ; GO:0006812 |calcium ion transport ; GO:0006816 |synaptic transmission ; GO:0007268 |regulation of transcription, DNA-dependent ; GO:0006355 |neurogenesis ; GO:0007399 REAB|Voltage-dependent calcium channels mediate the entry of calcium ions into excitable |cells, and are also involved in a variety of calcium-dependent processes, including |muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium |channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and |gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, |whereas, the others act as auxiliary subunits regulating this activity. The distinctive |properties of the calcium channel types are related primarily to the expression |of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes |the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations |in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine |and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. |Multiple transcript variants have been described, however, the full-length nature |of not all is known. In one set of transcript variants, the (CAG)n-repeats occur |in the 3' UTR, and are not associated with any disease. But in another set of variants, |an insertion extends the coding region to include the (CAG)n-repeats which encode |a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 |in the coding region is associated with spinocerebellar ataxia 6. CHR|19 PRD|brain calcium channel 1 |calcium channel, L type, alpha-1 polypeptide, isoform 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=400460 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=773[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126432 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_023035 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_023035 |http://www.geneclinics.org/query?mim=183086 |http://www.geneclinics.org/query?mim=601011 DBL|UNIGENE:Hs.400460 |OMIM:601011 |SNP:773 |UWCM:126432.html MAP|19p13.2-p13.1 PHP|Cerebellar ataxia, pure |Episodic ataxia, type 2 |Hemiplegic migraine, familial |Spinocerebellar ataxia-6 ENZ|voltage-gated calcium channel activity ; GO:0005245 |calcium ion binding ; GO:0005509 |DNA binding ; GO:0003677 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cacna1a; score == 3523; expect == 0.0; MEOW:MGgn0000967 (91%) |species == rat; score == 3516; expect == 0.0; MEOW:ref|NP_037050.1| (90%) |species == Human; gene == CACNA1B; score == 1209; expect == 0.0; MEOW:HUgn0000774 (68%) |species == Human; gene == CACNA1E; score == 1125; expect == 0.0; MEOW:HUgn0000777 (74%) |species == Mosquito; gene == LOC23154; score == 935; expect == 0.0; MEOW:AGgn0023154 (61%) |species == Fruitfly; gene == cac; score == 932; expect == 0.0; MEOW:FBgn0005563 (59%) |species == Worm; gene == unc-2; score == 887; expect == 0.0; MEOW:CEgn0002888 (60%) |species == Zfish; gene == cacna1c; score == 691; expect == 0.0; MEOW:ZFgn0002427 (48%) } # EOR GENR { RETE|ID 1 HUgn0000774 CHR 1 9 DID 1 LocusLink:774 MAP 1 9q34 NAM 1 calcium channel, voltage-dependent, L type, alpha 1B subunit ORG 1 Homo sapiens SYM 1 CACNA1B ID|HUgn0000774 DID|LocusLink:774 ORG|Homo sapiens RSQ|REFSEQ:NM_000718 RPA|REFPROT:NP_000709 DBA|XM:NM_000718 |NA:M94172 |NA:M94173 |NA:none PAC|XP:NP_000709 SYM|CACNA1B NAM|calcium channel, voltage-dependent, L type, alpha 1B subunit SYN|CACNN |CACNL1A5 FNC|calcium channel, voltage-dependent, L type, alpha 1B subunit |cation transport ; GO:0006812 |calcium ion transport ; GO:0006816 |synaptic transmission ; GO:0007268 CHR|9 PRD|calcium channel, N type |calcium channel, voltage-dependent, alpha 1B subunit, N type URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512722 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=774[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:580689 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000718 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000718 DBL|UNIGENE:Hs.512722 |OMIM:601012 |SNP:774 MAP|9q34 ENZ|ATP binding ; GO:0005524 |voltage-gated calcium channel activity ; GO:0005245 |calcium ion binding ; GO:0005509 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 HG|species == rat; score == 3789; expect == 0.0; MEOW:ref|XP_346649.1| (90%) |species == Mouse; gene == Cacna1b; score == 3654; expect == 0.0; MEOW:MGgn0000968 (87%) |species == Human; gene == CACNA1A; score == 1209; expect == 0.0; MEOW:HUgn0000773 (68%) |species == Human; gene == CACNA1E; score == 1063; expect == 0.0; MEOW:HUgn0000777 (74%) |species == Mosquito; gene == LOC23154; score == 943; expect == 0.0; MEOW:AGgn0023154 (64%) |species == Fruitfly; gene == cac; score == 926; expect == 0.0; MEOW:FBgn0005563 (63%) |species == Worm; gene == unc-2; score == 882; expect == 0.0; MEOW:CEgn0002888 (60%) |species == Zfish; gene == cacna1c; score == 681; expect == 0.0; MEOW:ZFgn0002427 (49%) |species == Yeast; gene == CCH1; score == 159; expect == 1.2e-38; MEOW:SGgn0003449 (23%) } # EOR GENR { RETE|ID 1 HUgn0000775 CHR 1 12 DID 1 LocusLink:775 MAP 1 12p13.3 NAM 1 calcium channel, voltage-dependent, L type, alpha 1C subunit ORG 1 Homo sapiens SYM 1 CACNA1C ID|HUgn0000775 DID|LocusLink:775 ORG|Homo sapiens RSQ|REFSEQ:NM_000719 RPA|REFPROT:NP_000710 DBA|XM:NM_000719 |NA:M92269 |NA:Z26308 |NA:AF070589 |NA:AF465484 |NA:AJ224873 |NA:L29529 |NA:L29534 |NA:L29536 |NA:Z26294 |NA:Z26295 |NA:Z34809 |NA:Z34810 |NA:Z34811 |NA:Z34812 |NA:Z34813 |NA:Z34814 |NA:Z34815 |NA:Z34816 |NA:Z34817 |NA:Z34818 |NA:Z34819 |NA:Z34820 |NA:Z34821 |NA:Z34822 |NA:Z74996 |NA:none PAC|XP:NP_000710 SYM|CACNA1C NAM|calcium channel, voltage-dependent, L type, alpha 1C subunit SYN|CaV1.2 |CCHL1A1 |CACNL1A1 FNC|calcium channel, voltage-dependent, L type, alpha 1C subunit |regulation of heart rate ; GO:0008016 |small molecule transport ; GO:0006832 |circulation ; GO:0008015 CHR|12 DBL|OMIM:114205 |SNP:775 MAP|12p13.3 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=775[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126094 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000719 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000719 PHP|Alpha 1C subunit of the voltage-dependent calcium channel; channel is of the L type and is expressed in the heart ENZ|voltage-gated calcium channel activity ; GO:0005245 CEL|voltage-gated calcium channel complex ; GO:0005891 HG|species == Mouse; gene == Cacna1c; score == 3639; expect == 0.0; MEOW:MGgn0000969 (94%) |species == rat; score == 3568; expect == 0.0; MEOW:ref|NP_036649.1| (94%) |species == Zfish; gene == cacna1c; score == 2894; expect == 0.0; MEOW:ZFgn0002427 (77%) |species == Human; gene == CACNA1D; score == 2323; expect == 0.0; MEOW:HUgn0000776 (76%) |species == Human; gene == CACNA1S; score == 2080; expect == 0.0; MEOW:HUgn0000779 (68%) |species == Human; gene == CACNA1F; score == 2018; expect == 0.0; MEOW:HUgn0000778 (68%) |species == Mosquito; score == 1807; expect == 0.0; MEOW:AGgn0001382 (62%) |species == Worm; gene == egl-19; score == 1736; expect == 0.0; MEOW:CEgn0000495 (60%) |species == Fruitfly; gene == Ca-&agr;1D; score == 1732; expect == 0.0; MEOW:FBgn0001991 (60%) } # EOR GENR { RETE|ID 1 HUgn0000776 CHR 1 3 DID 1 LocusLink:776 MAP 1 3p14.3 NAM 1 calcium channel, voltage-dependent, L type, alpha 1D subunit ORG 1 Homo sapiens SYM 1 CACNA1D ID|HUgn0000776 DID|LocusLink:776 ORG|Homo sapiens RSQ|REFSEQ:NM_000720 RPA|REFPROT:NP_000711 DBA|XM:NM_000720 |NA:M76558 |NA:M83566 |NA:none PAC|XP:NP_000711 SYM|CACNA1D NAM|calcium channel, voltage-dependent, L type, alpha 1D subunit SYN|CCHL1A2 |CACNL1A2 FNC|calcium channel, voltage-dependent, L type, alpha 1D subunit |cation transport ; GO:0006812 |calcium ion transport ; GO:0006816 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=399966 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=776[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128872 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000720 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000720 DBL|UNIGENE:Hs.399966 |OMIM:114206 |SNP:776 MAP|3p14.3 ENZ|dihydropyridine-sensitive calcium channel activity ; GO:0015270 |calcium ion binding ; GO:0005509 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 HG|species == rat; score == 3773; expect == 0.0; MEOW:ref|NP_058994.1| (94%) |species == Mouse; gene == Cacna1d; score == 3709; expect == 0.0; MEOW:MGgn0000970 (95%) |species == Zfish; gene == cacna1c; score == 2432; expect == 0.0; MEOW:ZFgn0002427 (66%) |species == Human; gene == CACNA1C; score == 2323; expect == 0.0; MEOW:HUgn0000775 (76%) |species == Human; gene == CACNA1F; score == 2175; expect == 0.0; MEOW:HUgn0000778 (73%) |species == Human; gene == CACNA1S; score == 2057; expect == 0.0; MEOW:HUgn0000779 (67%) |species == Mosquito; score == 1822; expect == 0.0; MEOW:AGgn0001382 (62%) |species == Fruitfly; gene == Ca-&agr;1D; score == 1793; expect == 0.0; MEOW:FBgn0001991 (62%) |species == Worm; gene == egl-19; score == 1767; expect == 0.0; MEOW:CEgn0000495 (60%) |species == Yeast; gene == CCH1; score == 137; expect == 1.5e-32; MEOW:SGgn0003449 (22%) } # EOR GENR { RETE|ID 1 HUgn0000777 CHR 1 1 DID 1 LocusLink:777 MAP 1 1q25-q31 NAM 1 calcium channel, voltage-dependent, alpha 1E subunit ORG 1 Homo sapiens SYM 1 CACNA1E ID|HUgn0000777 DID|LocusLink:777 ORG|Homo sapiens RSQ|REFSEQ:NM_000721 RPA|REFPROT:NP_000712 DBA|XM:NM_000721 |NA:AK096563 |NA:L27745 |NA:L29384 |NA:L29385 |NA:none PAC|XP:NP_000712 SYM|CACNA1E NAM|calcium channel, voltage-dependent, alpha 1E subunit SYN|Cav2.3 |CACNL1A6 FNC|calcium channel, voltage-dependent, alpha 1E subunit |cation transport ; GO:0006812 |calcium ion transport ; GO:0006816 |synaptic transmission ; GO:0007268 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437444 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=777[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:434408 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000721 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000721 DBL|UNIGENE:Hs.437444 |OMIM:601013 |SNP:777 MAP|1q25-q31 ENZ|voltage-gated calcium channel activity ; GO:0005245 |calcium ion binding ; GO:0005509 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cacna1e; score == 3697; expect == 0.0; MEOW:MGgn0000971 (94%) |species == rat; score == 2822; expect == 0.0; MEOW:ref|XP_213918.2| (95%) |species == Human; gene == CACNA1A; score == 1125; expect == 0.0; MEOW:HUgn0000773 (74%) |species == Human; gene == CACNA1B; score == 1063; expect == 0.0; MEOW:HUgn0000774 (74%) |species == Mosquito; gene == LOC23154; score == 918; expect == 0.0; MEOW:AGgn0023154 (63%) |species == Fruitfly; gene == cac; score == 912; expect == 0.0; MEOW:FBgn0005563 (61%) |species == Worm; gene == unc-2; score == 842; expect == 0.0; MEOW:CEgn0002888 (59%) |species == Zfish; gene == cacna1c; score == 652; expect == 0.0; MEOW:ZFgn0002427 (46%) } # EOR GENR { RETE|ID 1 HUgn0000778 CHR 1 X DID 1 LocusLink:778 MAP 1 Xp11.23 NAM 1 calcium channel, voltage-dependent, alpha 1F subunit ORG 1 Homo sapiens SYM 1 CACNA1F ID|HUgn0000778 DID|LocusLink:778 ORG|Homo sapiens RSQ|REFSEQ:NM_005183 RPA|REFPROT:NP_005174 DBA|XM:NM_005183 |NA:AJ006216 |NA:AF067227 |NA:AF201304 |NA:AJ224874 |NA:none PAC|XP:NP_005174 SYM|CACNA1F NAM|calcium channel, voltage-dependent, alpha 1F subunit SYN|CSNB2 |CSNBX2 FNC|calcium channel, voltage-dependent, alpha 1F subunit |cation transport ; GO:0006812 |vision ; GO:0007601 |calcium ion transport ; GO:0006816 |synaptic transmission ; GO:0007268 CHR|X PRD|Cav1.4alpha1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=139263 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=778[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053864 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005183 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005183 |http://www.geneclinics.org/query?mim=300110 |http://www.retina-international.com/sci-news/cacnamut.htm DBL|UNIGENE:Hs.139263 |OMIM:300110 |SNP:778 MAP|Xp11.23 PHP|Night blindness, congenital stationary, X-linked, type 2 ENZ|voltage-gated calcium channel activity ; GO:0005245 |calcium ion binding ; GO:0005509 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 HG|species == rat; score == 3155; expect == 0.0; MEOW:ref|XP_346866.1| (91%) |species == Mouse; gene == Cacna1f; score == 3098; expect == 0.0; MEOW:MGgn0014099 (89%) |species == Human; gene == CACNA1D; score == 2175; expect == 0.0; MEOW:HUgn0000776 (73%) |species == Human; gene == CACNA1C; score == 2018; expect == 0.0; MEOW:HUgn0000775 (68%) |species == Zfish; gene == cacna1c; score == 1990; expect == 0.0; MEOW:ZFgn0002427 (69%) |species == Human; gene == CACNA1S; score == 1905; expect == 0.0; MEOW:HUgn0000779 (64%) |species == Mosquito; score == 1685; expect == 0.0; MEOW:AGgn0001382 (60%) |species == Fruitfly; gene == Ca-&agr;1D; score == 1639; expect == 0.0; MEOW:FBgn0001991 (60%) |species == Worm; gene == unc-2; score == 1132; expect == 0.0; MEOW:CEgn0002888 (46%) |species == Worm; gene == egl-19; score == 1006; expect == 0.0; MEOW:CEgn0000495 (57%) } # EOR GENR { RETE|ID 1 HUgn0000779 CHR 1 1 DID 1 LocusLink:779 MAP 1 1q32 NAM 1 calcium channel, voltage-dependent, L type, alpha 1S subunit ORG 1 Homo sapiens SYM 1 CACNA1S ID|HUgn0000779 DID|LocusLink:779 ORG|Homo sapiens RSQ|REFSEQ:NM_000069 RPA|REFPROT:NP_000060 DBA|XM:NM_000069 |NA:U30707 |NA:L33798 |NA:U09784 |NA:U14413 |NA:U18986 |NA:none PAC|XP:NP_000060 SYM|CACNA1S NAM|calcium channel, voltage-dependent, L type, alpha 1S subunit SYN|MHS5 |HOKPP |hypoPP |CCHL1A3 |CACNL1A3 FNC|calcium channel, voltage-dependent, L type, alpha 1S subunit |cation transport ; GO:0006812 |calcium ion transport ; GO:0006816 |muscle contraction ; GO:0006936 REAB|L type voltage-dependent calcium channel controls release of calcium in skeletal |muscle cells. Alpha 1 (CACNA1S) is one of the five subunits that constitute this |calcium channel. Mutation in CACNA1S has been reported to associate with malignant |hyperthermia susceptibility and hypokalemic periodic paralysis. CHR|1 PRD|HypoPP |calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1294 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=779[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126431 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000069 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000069 |http://www.geneclinics.org/query?mim=114208 DBL|UNIGENE:Hs.1294 |OMIM:114208 |SNP:779 |UWCM:126431.html MAP|1q32 PHP|Hypokalemic periodic paralysis |Malignant hyperthermia susceptibility 5 ENZ|dihydropyridine-sensitive calcium channel activity ; GO:0015270 |calcium ion binding ; GO:0005509 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cacna1c; score == 2082; expect == 0.0; MEOW:MGgn0000969 (68%) |species == Human; gene == CACNA1C; score == 2080; expect == 0.0; MEOW:HUgn0000775 (68%) |species == Mouse; gene == Cacna1d; score == 2060; expect == 0.0; MEOW:MGgn0000970 (67%) |species == Human; gene == CACNA1D; score == 2057; expect == 0.0; MEOW:HUgn0000776 (67%) |species == Zfish; gene == cacna1c; score == 2052; expect == 0.0; MEOW:ZFgn0002427 (67%) |species == rat; score == 2041; expect == 0.0; MEOW:ref|NP_036649.1| (67%) |species == Human; gene == CACNA1F; score == 1905; expect == 0.0; MEOW:HUgn0000778 (64%) |species == rat; score == 1890; expect == 0.0; MEOW:ref|XP_346866.1| (63%) |species == Mouse; gene == Cacna1f; score == 1887; expect == 0.0; MEOW:MGgn0014099 (63%) |species == Mosquito; score == 1694; expect == 0.0; MEOW:AGgn0001382 (59%) |species == Fruitfly; gene == Ca-&agr;1D; score == 1679; expect == 0.0; MEOW:FBgn0001991 (58%) |species == Worm; gene == egl-19; score == 1664; expect == 0.0; MEOW:CEgn0000495 (57%) } # EOR GENR { RETE|ID 1 HUgn0000780 CHR 1 6 DID 1 LocusLink:780 MAP 1 6p21.3 NAM 1 discoidin domain receptor family, member 1 ORG 1 Homo sapiens SYM 1 DDR1 ID|HUgn0000780 DID|LocusLink:780 ORG|Homo sapiens RSQ|REFSEQ:NM_001954 |REFSEQ:NM_013993 |REFSEQ:NM_013994 RPA|REFPROT:NP_001945 |REFPROT:NP_054699 |REFPROT:NP_054700 DBA|XM:NM_001954 |XM:NM_013993 |XM:NM_013994 |NA:U48705 |NA:X98208 |NA:X99031 |NA:AK130776 |NA:BC008716 |NA:BC013400 |NA:L11315 |NA:L20817 |NA:L57508 |NA:X74979 |NA:Z29093 |NA:none PAC|XP:NP_001945 |XP:NP_054699 |XP:NP_054700 SYM|DDR1 NAM|discoidin domain receptor family, member 1 SYN|CAK |DDR |NEP |PTK3 |RTK6 |TRKE |CD167 |EDDR1 |MCK10 |NTRK4 |PTK3A FNC|discoidin receptor tyrosine kinase isoform a |discoidin receptor tyrosine kinase isoform b |discoidin receptor tyrosine kinase isoform c |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |cell adhesion ; GO:0007155 REAB|Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with |their microenvironment. These molecules are involved in the regulation of cell growth, |differentiation and metabolism. The protein encoded by this gene is a RTK that is |widely expressed in normal and transformed epithelial cells and is activated by |various types of collagen. This protein belongs to a subfamily of tyrosine kinase |receptors with a homology region to the Dictyostelium discoideum protein discoidin |I in their extracellular domain. Its autophosphorylation is achieved by all collagens |so far tested (type I to type VI). In situ studies and Northern-blot analysis showed |that expression of this encoded protein is restricted to epithelial cells, particularly |in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein |is significantly over-expressed in several human tumors from breast, ovarian, esophageal, |and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several |HLA class I genes. Three isoforms of this gene are generated by alternative splicing. |[PROW] CHR|6 PRD|cell adhesion kinase |mammarian carcinoma kinase 10 |neuroepithelial tyrosine kinase |PTK3A protein tyrosine kinase 3A |epithelial discoidin domain receptor 1 |neurotrophic tyrosine kinase, receptor, type 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=423573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=780[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438201 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013994 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013994 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=423573 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24348 DBL|UNIGENE:Hs.423573 |OMIM:600408 |SNP:780 |PROW:1986613159 ENZ|EC:2.7.1.112 |transmembrane receptor protein tyrosine kinase activity ; GO:0004714 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|6p21.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 1437; expect == 0.0; MEOW:sp|BAC78172|BAC78172 (95%) |species == rat; score == 1372; expect == 0.0; MEOW:ref|NP_037269.1| (89%) |species == Mouse; gene == Ddr1; score == 1362; expect == 0.0; MEOW:MGgn0000987 (89%) |species == Human; gene == DDR2; score == 889; expect == 0.0; MEOW:HUgn0004921 (54%) |species == Worm; gene == F11D5.3a; score == 240; expect == 2.6e-63; MEOW:CEgn0027918 (39%) |species == Worm; gene == F11D5.3b; score == 240; expect == 2.5e-63; MEOW:CEgn0027919 (39%) |species == Mosquito; score == 235; expect == 6.5e-62; MEOW:AGgn0020604 (42%) |species == Fruitfly; gene == Ror; score == 219; expect == 2.4e-57; MEOW:FBgn0010407 (39%) |species == Mosquito; gene == LOC7679; score == 210; expect == 1.8e-54; MEOW:AGgn0007679 (37%) |species == Fruitfly; gene == Nrk; score == 206; expect == 2.7e-53; MEOW:FBgn0020391 (38%) |species == Fruitfly; gene == InR; score == 196; expect == 3.7e-50; MEOW:FBgn0013984 (36%) |species == Mosquito; gene == LOC2451; score == 193; expect == 3.0e-49; MEOW:AGgn0002451 (37%) |species == Fruitfly; gene == Abl; score == 193; expect == 2.4e-49; MEOW:FBgn0000017 (37%) |species == Zfish; gene == igf1rb; score == 188; expect == 6.6e-49; MEOW:ZFgn0002591 (36%) |species == Fruitfly; gene == sev; score == 183; expect == 3.2e-46; MEOW:FBgn0003366 (36%) |species == Zfish; gene == ret1; score == 183; expect == 2.8e-47; MEOW:ZFgn0000090 (34%) |species == Fruitfly; gene == Alk; score == 182; expect == 5.5e-46; MEOW:FBgn0040505 (36%) |species == Fruitfly; gene == Eph; score == 176; expect == 3.0e-44; MEOW:FBgn0025936 (36%) |species == Zfish; gene == ek1; score == 176; expect == 3.4e-45; MEOW:ZFgn0000466 (35%) |species == Zfish; gene == fgfr3; score == 176; expect == 2.0e-45; MEOW:ZFgn0000918 (35%) |species == Zfish; gene == rtk4; score == 174; expect == 7.5e-45; MEOW:ZFgn0000378 (36%) |species == Zfish; gene == ek2; score == 174; expect == 1.3e-44; MEOW:ZFgn0000467 (36%) |species == Zfish; gene == fgfr4; score == 172; expect == 4.9e-44; MEOW:ZFgn0000165 (35%) |species == Zfish; gene == fgfr1; score == 171; expect == 1.1e-43; MEOW:ZFgn0000064 (35%) |species == Zfish; gene == rtk6; score == 171; expect == 1.1e-43; MEOW:ZFgn0000380 (35%) |species == Zfish; gene == ltk; score == 170; expect == 1.4e-43; MEOW:ZFgn0013982 (34%) |species == Zfish; gene == ntrk1; score == 160; expect == 3.0e-40; MEOW:ZFgn0000010 (50%) } # EOR GENR { RETE|ID 1 HUgn0000781 CHR 1 7 DID 1 LocusLink:781 MAP 1 7q21-q22 NAM 1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 ORG 1 Homo sapiens SYM 1 CACNA2D1 ID|HUgn0000781 DID|LocusLink:781 ORG|Homo sapiens RSQ|REFSEQ:NM_000722 RPA|REFPROT:NP_000713 DBA|XM:NM_000722 |XM:NM_000722 |NA:Z28599 |NA:M76559 |NA:none PAC|XP:NP_000713 |XP:NP_000713 SYM|CACNA2D1 NAM|calcium channel, voltage-dependent, alpha 2/delta subunit 1 SYN|CACNA2 |CACNL2A FNC|calcium channel, voltage-dependent, alpha 2/delta subunit 1 |ion transport ; GO:0006811 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147871 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=781[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132010 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000722 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000722 |http://www.geneclinics.org/query?mim=114204 DBL|UNIGENE:Hs.147871 |OMIM:114204 |SNP:781 MAP|7q21-q22 ENZ|voltage-gated ion channel activity ; GO:0005244 |dihydropyridine-sensitive calcium channel activity ; GO:0015270 |calcium channel activity ; GO:0005262 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 2102; expect == 0.0; MEOW:ref|NP_037051.2| (96%) |species == Mouse; gene == Cacna2d1; score == 2083; expect == 0.0; MEOW:MGgn0000974 (95%) |species == Human; gene == CACNA2D2; score == 1137; expect == 0.0; MEOW:HUgn0009254 (54%) |species == Fruitfly; gene == CG12455; score == 332; expect == 3.2e-91; MEOW:FBgn0028859 (26%) |species == Mosquito; score == 330; expect == 2.2e-90; MEOW:AGgn0020925 (26%) |species == Mosquito; score == 317; expect == 3.0e-86; MEOW:AGgn0020961 (26%) |species == Mosquito; score == 298; expect == 8.3e-81; MEOW:AGgn0004592 (28%) |species == Fruitfly; gene == CG4587; score == 294; expect == 2.5e-79; MEOW:FBgn0028863 (27%) |species == Worm; gene == unc-36; score == 223; expect == 4.2e-58; MEOW:CEgn0002923 (22%) } # EOR GENR { RETE|ID 1 HUgn0000782 CHR 1 17 DID 1 LocusLink:782 MAP 1 17q21-q22 NAM 1 calcium channel, voltage-dependent, beta 1 subunit ORG 1 Homo sapiens SYM 1 CACNB1 ID|HUgn0000782 DID|LocusLink:782 ORG|Homo sapiens RSQ|REFSEQ:NM_000723 RPA|REFPROT:NP_000714 DBA|XM:NM_000723 |NA:U86960 |NA:AB054985 |NA:AK127283 |NA:BC037311 |NA:L06110 |NA:M92301 |NA:M92302 |NA:M92303 |NA:none PAC|XP:NP_000714 SYM|CACNB1 NAM|calcium channel, voltage-dependent, beta 1 subunit SYN|CCHLB |CCHLB1 |CACNLB1 FNC|calcium channel, voltage-dependent, beta 1 subunit |ion transport ; GO:0006811 |calcium ion transport ; GO:0006816 |muscle contraction ; GO:0006936 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=635 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=782[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132012 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000723 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000723 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=635 DBL|UNIGENE:Hs.635 |OMIM:114207 |SNP:782 MAP|17q21-q22 ENZ|voltage-gated calcium channel activity ; GO:0005245 CEL|voltage-gated calcium channel complex ; GO:0005891 |membrane fraction ; GO:0005624 HG|species == rat; score == 1033; expect == 0.0; MEOW:ref|NP_059042.1| (94%) |species == Mouse; gene == Cacnb1; score == 739; expect == 0.0; MEOW:MGgn0000976 (87%) |species == Mouse; gene == Cacnb2; score == 626; expect == 6e-180; MEOW:MGgn0000977 (60%) |species == Human; gene == CACNB2; score == 612; expect == 2e-175; MEOW:HUgn0000783 (61%) |species == Human; gene == CACNB4; score == 600; expect == 8e-172; MEOW:HUgn0000785 (69%) |species == Human; gene == CACNB3; score == 498; expect == 3e-141; MEOW:HUgn0000784 (66%) |species == Mosquito; score == 470; expect == 6e-133; MEOW:AGgn0007021 (66%) |species == Worm; gene == ccb-1; score == 468; expect == 3e-132; MEOW:CEgn0026331 (60%) } # EOR GENR { RETE|ID 1 HUgn0000783 CHR 1 10 DID 1 LocusLink:783 MAP 1 10p12 NAM 1 calcium channel, voltage-dependent, beta 2 subunit ORG 1 Homo sapiens SYM 1 CACNB2 ID|HUgn0000783 DID|LocusLink:783 ORG|Homo sapiens RSQ|REFSEQ:NM_000724 RPA|REFPROT:NP_000715 DBA|XM:NM_000724 |NA:AF137376 |NA:AF137377 |NA:AF285239 |NA:AF423189 |NA:AF423190 |NA:AF423192 |NA:AF465485 |NA:AY393858 |NA:AY393859 |NA:AY393862 |NA:S60415 |NA:U95019 |NA:none PAC|XP:NP_000715 SYM|CACNB2 NAM|calcium channel, voltage-dependent, beta 2 subunit SYN|MYSB |CACNLB2 FNC|calcium channel, voltage-dependent, beta 2 subunit |neuromuscular junction development ; GO:0007528 |ion transport ; GO:0006811 |calcium ion transport ; GO:0006816 CHR|10 PRD|myasthenic (Lambert-Eaton) syndrome antigen B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435786 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=783[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132014 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000724 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000724 DBL|UNIGENE:Hs.435786 |OMIM:600003 |SNP:783 MAP|10p12 ENZ|voltage-gated calcium channel activity ; GO:0005245 CEL|voltage-gated calcium channel complex ; GO:0005891 |membrane fraction ; GO:0005624 HG|species == rat; score == 973; expect == 0.0; MEOW:ref|NP_446303.1| (94%) |species == Mouse; gene == Cacnb2; score == 943; expect == 0.0; MEOW:MGgn0000977 (94%) |species == Human; gene == CACNB1; score == 612; expect == 2e-175; MEOW:HUgn0000782 (61%) |species == Human; gene == CACNB4; score == 573; expect == 1e-163; MEOW:HUgn0000785 (61%) |species == Worm; gene == ccb-1; score == 502; expect == 2e-142; MEOW:CEgn0026331 (63%) |species == Mosquito; score == 479; expect == 1e-135; MEOW:AGgn0007021 (69%) } # EOR GENR { RETE|ID 1 HUgn0000784 CHR 1 12 DID 1 LocusLink:784 MAP 1 12q13 NAM 1 calcium channel, voltage-dependent, beta 3 subunit ORG 1 Homo sapiens SYM 1 CACNB3 ID|HUgn0000784 DID|LocusLink:784 ORG|Homo sapiens RSQ|REFSEQ:NM_000725 RPA|REFPROT:NP_000716 DBA|XM:NM_000725 |NA:D43701 |NA:D43702 |NA:D43703 |NA:D43704 |NA:L27584 |NA:BC041811 |NA:none PAC|XP:NP_000716 SYM|CACNB3 NAM|calcium channel, voltage-dependent, beta 3 subunit SYN|CACNLB3 FNC|calcium channel, voltage-dependent, beta 3 subunit |ion transport ; GO:0006811 |calcium ion transport ; GO:0006816 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250712 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=784[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:341023 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000725 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000725 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=250712 DBL|UNIGENE:Hs.250712 |OMIM:601958 |SNP:784 MAP|12q13 ENZ|voltage-gated calcium channel activity ; GO:0005245 CEL|voltage-gated calcium channel complex ; GO:0005891 |membrane fraction ; GO:0005624 HG|species == rat; score == 923; expect == 0.0; MEOW:ref|NP_036960.1| (97%) |species == Mouse; gene == Cacnb3; score == 864; expect == 0.0; MEOW:MGgn0000978 (96%) |species == Human; gene == CACNB4; score == 561; expect == 4e-160; MEOW:HUgn0000785 (66%) |species == rat; score == 546; expect == 1e-155; MEOW:ref|XP_215742.2| (68%) |species == rat; score == 506; expect == 1e-143; MEOW:ref|NP_059042.1| (73%) |species == Human; gene == CACNB1; score == 498; expect == 3e-141; MEOW:HUgn0000782 (66%) |species == rat; score == 489; expect == 2e-138; MEOW:ref|NP_446303.1| (54%) |species == Human; gene == CACNB2; score == 486; expect == 9e-138; MEOW:HUgn0000783 (53%) |species == Worm; gene == ccb-1; score == 430; expect == 1e-120; MEOW:CEgn0026331 (60%) |species == Mosquito; score == 416; expect == 8e-117; MEOW:AGgn0007021 (63%) } # EOR GENR { RETE|ID 1 HUgn0000785 CHR 1 2 DID 1 LocusLink:785 MAP 1 2q22-q31 NAM 1 calcium channel, voltage-dependent, beta 4 subunit ORG 1 Homo sapiens SYM 1 CACNB4 ID|HUgn0000785 DID|LocusLink:785 ORG|Homo sapiens RSQ|REFSEQ:NM_000726 RPA|REFPROT:NP_000717 DBA|XM:NM_000726 |NA:AF038852 |NA:AY054985 |NA:U95020 |NA:none PAC|XP:NP_000717 SYM|CACNB4 NAM|calcium channel, voltage-dependent, beta 4 subunit FNC|calcium channel, voltage-dependent, beta 4 subunit |ion transport ; GO:0006811 |calcium ion transport ; GO:0006816 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284800 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=785[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6028693 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000726 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000726 |http://www.geneclinics.org/query?mim=601949 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html DBL|UNIGENE:Hs.284800 |OMIM:601949 |SNP:785 MAP|2q22-q31 PHP|Ataxia, episodic |Epilepsy, generalized idiopathic |Epilepsy, juvenile myoclonic ENZ|voltage-gated calcium channel activity ; GO:0005245 CEL|voltage-gated calcium channel complex ; GO:0005891 |membrane fraction ; GO:0005624 HG|species == rat; score == 940; expect == 0.0; MEOW:ref|XP_215742.2| (98%) |species == Mouse; gene == Cacnb4; score == 853; expect == 0.0; MEOW:MGgn0000979 (98%) |species == Human; gene == CACNB1; score == 600; expect == 8e-172; MEOW:HUgn0000782 (69%) |species == Human; gene == CACNB2; score == 573; expect == 1e-163; MEOW:HUgn0000783 (61%) |species == Human; gene == CACNB3; score == 561; expect == 4e-160; MEOW:HUgn0000784 (66%) |species == Mosquito; score == 475; expect == 1e-134; MEOW:AGgn0007021 (64%) |species == Worm; gene == ccb-1; score == 466; expect == 1e-131; MEOW:CEgn0026331 (63%) } # EOR GENR { RETE|ID 1 HUgn0000786 CHR 1 17 DID 1 LocusLink:786 MAP 1 17q24 NAM 1 calcium channel, voltage-dependent, gamma subunit 1 ORG 1 Homo sapiens SYM 1 CACNG1 ID|HUgn0000786 DID|LocusLink:786 ORG|Homo sapiens RSQ|REFSEQ:NM_000727 RPA|REFPROT:NP_000718 DBA|XM:NM_000727 |NA:Z19603 |NA:AF086300 |NA:L07738 |NA:none PAC|XP:NP_000718 SYM|CACNG1 NAM|calcium channel, voltage-dependent, gamma subunit 1 SYN|CACNLG FNC|voltage-dependent calcium channel gamma-1 subunit |ion transport ; GO:0006811 |calcium ion transport ; GO:0006816 |muscle contraction ; GO:0006936 REAB|L-type calcium channels are composed of five subunits. The protein encoded by this |gene represents one of these subunits, gamma, and is one of several gamma subunit |proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive |calcium channels and is an integral membrane protein that plays a role in excitation-contraction |coupling. This gene is a member of the neuronal calcium channel gamma subunit gene |subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar |gamma subunit-encoding genes. CHR|17 PRD|L-type calcium channel gamma polypeptide |neuronal dihydropyridine-sensitive calcium channel gamma subunit |dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=786[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132015 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000727 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000727 DBL|UNIGENE:Hs.147989 |OMIM:114209 |SNP:786 MAP|17q24 ENZ|dihydropyridine-sensitive calcium channel activity ; GO:0015270 CEL|voltage-gated calcium channel complex ; GO:0005891 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cacng1; score == 309; expect == 4.4e-85; MEOW:MGgn0000980 (85%) |species == rat; score == 300; expect == 3.1e-82; MEOW:ref|NP_062128.1| (83%) } # EOR GENR { RETE|ID 1 HUgn0000788 CHR 1 3 DID 1 LocusLink:788 MAP 1 3p21.31 NAM 1 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 ORG 1 Homo sapiens SYM 1 SLC25A20 ID|HUgn0000788 DID|LocusLink:788 ORG|Homo sapiens RSQ|REFSEQ:NM_000387 RPA|REFPROT:NP_000378 DBA|XM:NM_000387 |NA:BC001689 |NA:Y10319 |NA:none PAC|XP:NP_000378 SYM|SLC25A20 NAM|solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 SYN|CAC |CACT FNC|carnitine/acylcarnitine translocase |transport ; GO:0006810 REAB|Carnitine-acylcarnitine translocase is located at the mitochondrial inner membrane |where it transfers fatty acylcarnitines into mitochondria. Thus it is critical in |the fatty acid oxidation process. A defect in this translocase impairs oxidation |of fatty acids and can cause a varieties of pathological conditions such as hypoglycemia, |cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness. CHR|3 PRD|carnitine-acylcarnitine carrier |Carnitine-acylcarnitine translocase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13845 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=788[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6503297 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000387 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000387 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=13845 |http://www.geneclinics.org/query?mim=212138 DBL|UNIGENE:Hs.13845 |OMIM:212138 |SNP:788 MAP|3p21.31 PHP|Carnitine-acylcarnitine translocase deficiency ENZ|binding ; GO:0005488 |lipid transporter activity ; GO:0005319 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Slc25a20; score == 581; expect == 1e-166; MEOW:MGgn0015024 (93%) |species == rat; score == 535; expect == 1e-152; MEOW:ref|NP_446417.1| (90%) |species == Mosquito; score == 378; expect == 2e-105; MEOW:AGgn0020391 (61%) |species == Fruitfly; gene == colt; score == 327; expect == 3.8e-90; MEOW:FBgn0019830 (52%) |species == Worm; gene == dif-1; score == 315; expect == 2.6e-86; MEOW:CEgn0000402 (55%) |species == Weed; gene == At5g46800; score == 177; expect == 6.3e-45; MEOW:ATgn0026057 (39%) |species == rice; score == 173; expect == 2.0e-43; MEOW:gnl|TIGR|8362.m03470 (37%) |species == rice; score == 172; expect == 3.4e-43; MEOW:gnl|TIGR|8362.m03469 (37%) |species == rice; score == 161; expect == 3.9e-40; MEOW:gnl|TIGR|8350.m01157 (35%) |species == Weed; gene == At1g79900; score == 151; expect == 6.3e-37; MEOW:ATgn0005897 (33%) |species == Yeast; gene == YMC1; score == 147; expect == 5.5e-36; MEOW:SGgn0006262 (33%) |species == Yeast; gene == CRC1; score == 145; expect == 3.0e-35; MEOW:SGgn0005626 (32%) |species == Human; gene == SLC25A2; score == 144; expect == 7.7e-35; MEOW:HUgn0083884 (32%) |species == Human; gene == SLC25A15; score == 139; expect == 1.4e-33; MEOW:HUgn0010166 (32%) |species == Human; gene == C14orf68; score == 134; expect == 4.6e-32; MEOW:HUgn0283600 (32%) } # EOR GENR { RETE|ID 1 HUgn0000789 CHR 1 6 DID 1 LocusLink:789 MAP 1 6p12 NAM 1 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene ORG 1 Homo sapiens SYM 1 SLC25A20P ID|HUgn0000789 DID|LocusLink:789 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AJ000401 |NA:AL034343 SYM|SLC25A20P NAM|solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene SYN|CACTP CHR|6 MAP|6p12 DBL|SNP:789 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9274899 } # EOR GENR { RETE|ID 1 HUgn0000790 CHR 1 2 DID 1 LocusLink:790 MAP 1 2p22-p21 NAM 1 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ORG 1 Homo sapiens SYM 1 CAD ID|HUgn0000790 DID|LocusLink:790 ORG|Homo sapiens RSQ|REFSEQ:NM_004341 RPA|REFPROT:NP_004332 DBA|XM:NM_004341 |NA:BC014178 |NA:D78586 |NA:none |NA:M38561 PAC|XP:NP_004332 SYM|CAD NAM|carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase FNC|carbamoylphosphate synthetase 2/aspartate transcarbamylase/dihydroorotase |'de novo' pyrimidine base biosynthesis ; GO:0006207 |amino acid metabolism ; GO:0006520 |pyrimidine nucleotide biosynthesis ; GO:0006221 |arginine biosynthesis ; GO:0006526 |nitrogen metabolism ; GO:0006807 REAB|The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to |proliferate. This gene encodes a trifunctional protein which is associated with |the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine |biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, |and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase |(MAPK) cascade, which indicates a direct link between activation of the MAPK cascade |and de novo biosynthesis of pyrimidine nucleotides. CHR|2 PRD|CAD trifunctional protein |multifunctional protein CAD DBL|OMIM:114010 |SNP:790 ENZ|EC:2.1.3.2 |EC:3.5.2.3 |EC:6.3.5.5 |carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity ; GO:0004088 |ATP binding ; GO:0005524 |aspartate carbamoyltransferase activity ; GO:0004070 |dihydroorotase activity ; GO:0004151 |transferase activity ; GO:0016740 |hydrolase activity ; GO:0016787 |ligase activity ; GO:0016874 |amino acid binding ; GO:0016597 MAP|2p22-p21 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=790[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119742 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004341 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004341 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 CEL|cytoplasm ; GO:0005737 |aspartate carbamoyltransferase complex ; GO:0009347 HG|species == rat; score == 4057; expect == 0.0; MEOW:ref|XP_343028.1| (94%) |species == Mosquito; gene == LOC14822; score == 2754; expect == 0.0; MEOW:AGgn0014822 (64%) |species == Fruitfly; gene == r; score == 2075; expect == 0.0; MEOW:FBgn0003189 (52%) |species == Yeast; gene == URA2; score == 2017; expect == 0.0; MEOW:SGgn0003666 (49%) |species == Human; gene == CPS1; score == 1389; expect == 0.0; MEOW:HUgn0001373 (51%) |species == ecoli; score == 759; expect == 0.0; MEOW:ref|NP_414574.1| (42%) |species == rice; score == 738; expect == 0.0; MEOW:gnl|TIGR|8350.m03554 (39%) |species == Weed; gene == At1g29900; score == 724; expect == 0.0; MEOW:ATgn0006298 (41%) } # EOR GENR { RETE|ID 1 HUgn0000793 CHR 1 8 DID 1 LocusLink:793 MAP 1 8q21.3-q22.1 NAM 1 calbindin 1, 28kDa ORG 1 Homo sapiens SYM 1 CALB1 ID|HUgn0000793 DID|LocusLink:793 ORG|Homo sapiens RSQ|REFSEQ:NM_004929 RPA|REFPROT:NP_004920 DBA|XM:NM_004929 |NA:AC004612 |NA:AF049895 |NA:AF068862 |NA:AF070717 |NA:M19878 |NA:M19879 |NA:AK054881 |NA:BC006478 |NA:BC020864 |NA:BX537530 |NA:X06661 |NA:none PAC|XP:NP_004920 SYM|CALB1 NAM|calbindin 1, 28kDa SYN|CALB FNC|calbindin 1 REAB|Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It |was originally described as a 27-kD protein induced by vitamin D in the duodenum |of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. |Calbindin contains 4 active calcium-binding domains, and 2 modified domains that |presumably have lost their calcium-binding capacity. The neurons in brains of patients |with Huntington disease are calbindin-depleted. CHR|8 PRD|calbindin 1, (28kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65425 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=793[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119744 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004929 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004929 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=65425 DBL|UNIGENE:Hs.65425 |OMIM:114050 |SNP:793 MAP|8q21.3-q22.1 ENZ|protein binding ; GO:0005515 |calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Calb1; score == 518; expect == 1e-147; MEOW:MGgn0000989 (98%) |species == rat; score == 518; expect == 2e-147; MEOW:ref|NP_114190.1| (98%) |species == Human; gene == CALB2; score == 315; expect == 1.6e-86; MEOW:HUgn0000794 (58%) |species == Mosquito; score == 226; expect == 7.1e-60; MEOW:AGgn0013966 (46%) |species == Fruitfly; gene == Cbp53E; score == 222; expect == 1.1e-58; MEOW:FBgn0004580 (46%) } # EOR GENR { RETE|ID 1 HUgn0000794 CHR 1 16 DID 1 LocusLink:794 MAP 1 16q22.2 NAM 1 calbindin 2, 29kDa (calretinin) ORG 1 Homo sapiens SYM 1 CALB2 ID|HUgn0000794 DID|LocusLink:794 ORG|Homo sapiens RSQ|REFSEQ:NM_001740 |REFSEQ:NM_007087 |REFSEQ:NM_007088 RPA|REFPROT:NP_001731 |REFPROT:NP_009018 |REFPROT:NP_009019 DBA|XM:NM_001740 |XM:NM_007087 |XM:NM_007088 |NA:X56668 |NA:BC015484 |NA:X56667 |NA:none PAC|XP:NP_001731 |XP:NP_009018 |XP:NP_009019 SYM|CALB2 NAM|calbindin 2, 29kDa (calretinin) SYN|CAL2 FNC|calbindin 2 full length protein isoform |calbindin 2 isoform 20k |calbindin 2 isoform 22k REAB|Calbindin 2 (calretinin), closely related to calbindin 1, is an intracellular calcium-binding |protein belonging to the troponin C superfamily. Calbindin 1 is known to be involved |in the vitamin-D-dependent calcium absorption through intestinal and renal epithelia, |while the function of neuronal calbindin 1 and calbindin 2 is poorly understood. |The sequence of the calbindin 2 cDNA reveals an open reading frame of 271 codons |coding for a protein of 31,520 Da, and shares 58% identical residues with human |calbindin 1. Calbindin 2 contains five presumably active and one presumably inactive |calcium-binding domains. Comparison with the partial sequences available for chick |and guinea pig calbindin 2 reveals that the protein is highly conserved in evolution. |The calbindin 2 message was detected in the brain, while absent from heart muscle, |kidney, liver, lung, spleen, stomach and thyroid gland. There are two additional |forms of alternatively spliced calbindin 2 mRNAs encoding C-terminally truncated |proteins. Exon 7 can splice to exon 9, resulting in a frame shift and a translational |stop at the second codon of exon 9, and encoding calretinin-20k. Exon 7 can also |splice to exon 10, resulting in a frame shift and a translational stop at codon |15 of exon 10, and encoding calretinin-22k. The truncated proteins are able to bind |calcium. CHR|16 PRD|calbindin D29K |calbindin 2, (29kD, calretinin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=106857 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=794[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125374 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001740 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001740 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=106857 DBL|UNIGENE:Hs.106857 |OMIM:114051 |SNP:794 MAP|16q22.2 ENZ|calcium ion binding ; GO:0005509 HG|species == rat; score == 540; expect == 4e-154; MEOW:ref|NP_446440.1| (98%) |species == Mouse; gene == Calb2; score == 538; expect == 1e-153; MEOW:MGgn0000990 (98%) |species == Human; gene == CALB1; score == 315; expect == 1.6e-86; MEOW:HUgn0000793 (58%) |species == Mosquito; score == 238; expect == 1.1e-63; MEOW:AGgn0013966 (47%) |species == Fruitfly; gene == Cbp53E; score == 237; expect == 3.4e-63; MEOW:FBgn0004580 (48%) } # EOR GENR { RETE|ID 1 HUgn0000795 CHR 1 X DID 1 LocusLink:795 MAP 1 Xp22.2 NAM 1 calbindin 3, (vitamin D-dependent calcium binding protein) ORG 1 Homo sapiens SYM 1 CALB3 ID|HUgn0000795 DID|LocusLink:795 ORG|Homo sapiens RSQ|REFSEQ:NM_004057 RPA|REFPROT:NP_004048 DBA|XM:NM_004057 |NA:L13042 |NA:L13220 |NA:X65869 |NA:none PAC|XP:NP_004048 SYM|CALB3 NAM|calbindin 3, (vitamin D-dependent calcium binding protein) SYN|CABP1 |CABP9K FNC|calbindin 3 REAB|Calbindin D9K, the vitamin D-dependent calcium-binding protein (CALB3) is a cytosolic |protein of molecular weight 9,000 and belongs to a family of calcium-binding proteins |that includes calmodulin, parvalbumin, troponin C, and S100 protein. CALB3 is found |in the mammalian intestine, placenta, uterus, and kidney. Its exact function is |unknown. The intestinal protein is vitamin D-dependent and its expression correlates |with calcium transport activity. CALB3 may increase Ca2+ absorption by buffering |Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral |membrane vesicles. In keeping with its role in calcium absorption, concentrations |of CALB3 are highest in duodenal villus enterocytes. Expression levels in adult |human tissue were substantially lower than in child intestine. Located immediately |proximal to DXS43 on chromosome X, CALB3 is a small (5.5 kb) gene comprising 3 exons. |There is a possible relationship of CALB3 to hereditary hypophosphatemia. CHR|X PRD|calbindin D9K |calbindin 3, (vitamin D-dependent calcium-binding protein) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=639 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133780 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004057 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004057 DBL|UNIGENE:Hs.639 |OMIM:302020 |SNP:795 |IXDB:538301 MAP|Xp22.2 ENZ|calcium ion binding ; GO:0005509 HG|species == rat; score == 129; expect == 2.6e-31; MEOW:ref|NP_036653.1| (78%) } # EOR GENR { RETE|ID 1 HUgn0000796 CHR 1 11 DID 1 LocusLink:796 MAP 1 11p15.2-p15.1 NAM 1 calcitonin/calcitonin-related polypeptide, alpha ORG 1 Homo sapiens SYM 1 CALCA ID|HUgn0000796 DID|LocusLink:796 ORG|Homo sapiens RSQ|REFSEQ:NM_001741 RPA|REFPROT:NP_001732 DBA|XM:NM_001741 |NA:M12666 |NA:M26094 |NA:X15943 |NA:K03512 |NA:M26095 |NA:M64486 |NA:X00356 |NA:X02330 |NA:X03662 |NA:none PAC|XP:NP_001732 SYM|CALCA NAM|calcitonin/calcitonin-related polypeptide, alpha SYN|CT |KC |CGRP |CALC1 |CGRP1 |CGRP-I FNC|calcitonin/calcitonin-related polypeptide, alpha |regulation of calcium in ER ; GO:0006889 |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |adenylate cyclase activation ; GO:0007190 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |skeletal development ; GO:0001501 |cell-cell signaling ; GO:0007267 CHR|11 PRD|katacalcin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37058 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=796[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120571 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001741 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001741 DBL|UNIGENE:Hs.37058 |OMIM:114130 |SNP:796 |UWCM:120571.html MAP|11p15.2-p15.1 PHP|Osteoporosis |Precursor of calcitonin and calcitonin gene-related peptide; ligands for receptors found in nervous system and peripheral tissues ENZ|receptor binding ; GO:0005102 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == rat; score == 196; expect == 4.5e-51; MEOW:ref|NP_059034.1| (77%) |species == Human; gene == CALCB; score == 129; expect == 3.1e-31; MEOW:HUgn0000797 (78%) } # EOR GENR { RETE|ID 1 HUgn0000797 CHR 1 11 DID 1 LocusLink:797 MAP 1 11p15.2-p15.1 NAM 1 calcitonin-related polypeptide, beta ORG 1 Homo sapiens SYM 1 CALCB ID|HUgn0000797 DID|LocusLink:797 ORG|Homo sapiens RSQ|REFSEQ:NM_000728 RPA|REFPROT:NP_000719 DBA|XM:XM_350824 |NA:X04855 |NA:X04861 |NA:AK054728 |NA:BC008428 |NA:X02404 |NA:none PAC|XP:XP_350825 SYM|CALCB NAM|calcitonin-related polypeptide, beta SYN|CALC2 |CGRP2 |CGRP-II FNC|calcitonin-related polypeptide, beta |calcium ion homeostasis ; GO:0006874 |signal transduction ; GO:0007165 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274534 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=797[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120572 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000728 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000728 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274534 DBL|UNIGENE:Hs.274534 |OMIM:114160 |SNP:797 MAP|11p15.2-p15.1 ENZ|neuropeptide hormone activity ; GO:0005184 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Calca; score == 190; expect == 1.3e-49; MEOW:MGgn0039603 (79%) |species == Mouse; gene == Calcb; score == 165; expect == 3.4e-42; MEOW:MGgn0039604 (73%) |species == rat; score == 161; expect == 7.3e-41; MEOW:ref|NP_612522.1| (70%) |species == Human; gene == CALCA; score == 129; expect == 3.1e-31; MEOW:HUgn0000796 (78%) } # EOR GENR { RETE|ID 1 HUgn0000798 CHR 1 11 DID 1 LocusLink:798 MAP 1 11p15.1 NAM 1 calcitonin pseudogene ORG 1 Homo sapiens SYM 1 CALCP ID|HUgn0000798 DID|LocusLink:798 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC090835 |NA:X07964 |NA:X07965 SYM|CALCP NAM|calcitonin pseudogene SYN|CALC3 CHR|11 MAP|11p15.1 DBL|SNP:798 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119745 } # EOR GENR { RETE|ID 1 HUgn0000799 CHR 1 7 DID 1 LocusLink:799 MAP 1 7q21.3 NAM 1 calcitonin receptor ORG 1 Homo sapiens SYM 1 CALCR ID|HUgn0000799 DID|LocusLink:799 ORG|Homo sapiens RSQ|REFSEQ:NM_001742 RPA|REFPROT:NP_001733 DBA|XM:NM_001742 |XM:NM_001742 |NA:AC003078 |NA:AB022178 |NA:AY430048 |NA:L00587 |NA:U26553 |NA:U26554 |NA:X69920 |NA:X82466 |NA:none PAC|XP:NP_001733 |XP:NP_001733 SYM|CALCR NAM|calcitonin receptor SYN|CRT |CTR |CTR1 FNC|calcitonin receptor |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |phospholipase C activation ; GO:0007202 |adenylate cyclase activation ; GO:0007190 |ossification ; GO:0001503 |G-protein coupled receptor protein signaling pathway ; GO:0007186 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=640 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=799[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138127 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001742 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001742 DBL|UNIGENE:Hs.640 |OMIM:114131 |SNP:799 MAP|7q21.3 PHP|Osteoporosis, postmenopausal, susceptibility ENZ|calcitonin receptor activity ; GO:0004948 |G-protein coupled receptor activity ; GO:0004930 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 803; expect == 0.0; MEOW:ref|NP_446268.1| (74%) |species == Mouse; gene == Calcr; score == 775; expect == 0.0; MEOW:MGgn0000993 (72%) |species == Human; gene == CALCRL; score == 555; expect == 2e-158; MEOW:HUgn0010203 (57%) |species == Zfish; gene == pthr1; score == 242; expect == 1.9e-65; MEOW:ZFgn0000649 (34%) |species == Zfish; gene == pthr3; score == 228; expect == 2.2e-61; MEOW:ZFgn0000651 (34%) |species == Zfish; gene == pthr2; score == 212; expect == 1.6e-56; MEOW:ZFgn0000650 (29%) |species == Fruitfly; gene == CG32843; score == 196; expect == 1.8e-50; MEOW:FBgn0052843 (42%) |species == Mosquito; score == 194; expect == 6.6e-50; MEOW:AGgn0014164 (31%) |species == Worm; gene == C13B9.4; score == 184; expect == 4.9e-47; MEOW:CEgn0004676 (29%) |species == Fruitfly; gene == CG13758; score == 175; expect == 7.8e-44; MEOW:FBgn0040378 (28%) |species == Mosquito; score == 169; expect == 1.3e-42; MEOW:AGgn0004125 (29%) |species == Fruitfly; gene == CG12370; score == 167; expect == 6.9e-42; MEOW:FBgn0033744 (32%) |species == Worm; gene == C18B12.2; score == 155; expect == 3.2e-38; MEOW:CEgn0005098 (27%) } # EOR GENR { RETE|ID 1 HUgn0000800 CHR 1 7 DID 1 LocusLink:800 MAP 1 7q33 NAM 1 caldesmon 1 ORG 1 Homo sapiens SYM 1 CALD1 ID|HUgn0000800 DID|LocusLink:800 ORG|Homo sapiens RSQ|REFSEQ:NM_004342 |REFSEQ:NM_033138 |REFSEQ:NM_033139 |REFSEQ:NM_033140 |REFSEQ:NM_033157 RPA|REFPROT:NP_004333 |REFPROT:NP_149129 |REFPROT:NP_149130 |REFPROT:NP_149131 |REFPROT:NP_149347 DBA|XM:NM_004342 |XM:NM_033138 |XM:NM_033139 |XM:NM_033140 |XM:NM_033157 |XM:NM_004342 |XM:NM_033138 |XM:NM_033139 |XM:NM_033140 |XM:NM_033157 |NA:AF247820 |NA:BC005006 |NA:BC014035 |NA:BC015839 |NA:BC040354 |NA:BX648808 |NA:D90452 |NA:D90453 |NA:M64110 |NA:M83216 |NA:none PAC|XP:NP_004333 |XP:NP_149129 |XP:NP_149130 |XP:NP_149131 |XP:NP_149347 |XP:NP_004333 |XP:NP_149129 |XP:NP_149130 |XP:NP_149131 |XP:NP_149347 SYM|CALD1 NAM|caldesmon 1 SYN|CDM |NAG22 FNC|caldesmon 1 isoform 1 |caldesmon 1 isoform 2 |caldesmon 1 isoform 3 |caldesmon 1 isoform 4 |caldesmon 1 isoform 5 REAB|This gene encodes a calmodulin- and actin-binding protein, which plays a vital role |in the regulation of smooth muscle and nonmuscle contraction. This gene consists |of at least 16 exons, and its alternative splicing generates several transcript |variants varying in 5' UTR and coding region. These variants encode at least 5 different |isoforms. The high molecular weight isoform (isoform 1) is predominantly expressed |in smooth muscles, whereas the low molecular weight isoforms (isoforms 2-5) are |widely distributed in nonmuscle tissues and cells. CHR|7 PRD|H-CAD |L-CAD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443811 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=800[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133717 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033138 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033138 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443811 DBL|UNIGENE:Hs.443811 |OMIM:114213 |SNP:800 MAP|7q33 HG|species == rat; score == 328; expect == 6.0e-90; MEOW:ref|NP_037278.1| (93%) |species == Mouse; gene == Cald1; score == 325; expect == 2.0e-89; MEOW:MGgn0000994 (91%) } # EOR GENR { RETE|ID 1 HUgn0000801 CHR 1 14 DID 1 LocusLink:801 MAP 1 14q24-q31 NAM 1 calmodulin 1 (phosphorylase kinase, delta) ORG 1 Homo sapiens SYM 1 CALM1 ID|HUgn0000801 DID|LocusLink:801 ORG|Homo sapiens RSQ|REFSEQ:NM_006888 RPA|REFPROT:NP_008819 DBA|XM:NM_006888 |NA:AC006536 |NA:U12022 |NA:BC000454 |NA:BC007965 |NA:BC008597 |NA:BC011834 |NA:BC042831 |NA:BC047523 |NA:BX537677 |NA:BX648223 |NA:M27319 PAC|XP:NP_008819 SYM|CALM1 NAM|calmodulin 1 (phosphorylase kinase, delta) SYN|CAMI |PHKD |DD132 |CALML2 FNC|calmodulin 1 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|Calmodulin is the archetype of the family of calcium-modulated proteins of which |nearly 20 members have been found. They are identified by their occurrence in the |cytosol or on membranes facing the cytosol and by a high affinity for calcium. Calmodulin |contains 149 amino acids and has 4 calcium-binding domains. Its functions include |roles in growth and the cell cycle as well as in signal transduction and the synthesis |and release of neurotransmitters.[supplied by OMIM] CHR|14 PRD|phosphorylase kinase, delta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282410 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=801[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127560 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006888 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006888 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=282410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26035 DBL|UNIGENE:Hs.282410 |OMIM:114180 |SNP:801 MAP|14q24-q31 ENZ|protein binding ; GO:0005515 |calcium ion binding ; GO:0005509 CEL|cytoplasm ; GO:0005737 |plasma membrane ; GO:0005886 HG|species == Human; gene == CALM2; score == 297; expect == 2.1e-81; MEOW:HUgn0000805 (100%) |species == Mouse; gene == Calm1; score == 297; expect == 1.5e-81; MEOW:MGgn0000995 (100%) |species == Mouse; gene == Calm2; score == 297; expect == 1.5e-81; MEOW:MGgn0000996 (100%) |species == Mouse; gene == Calm3; score == 297; expect == 1.5e-81; MEOW:MGgn0000997 (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|NP_036650.1| (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|NP_059022.1| (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|XP_237641.2| (100%) |species == Mosquito; score == 292; expect == 4.1e-80; MEOW:AGgn0012700 (97%) |species == Worm; gene == cmd-1; score == 291; expect == 6.3e-80; MEOW:CEgn0016585 (97%) |species == Human; gene == CALM3; score == 291; expect == 8.9e-80; MEOW:HUgn0000808 (98%) |species == Fruitfly; gene == Cam; score == 290; expect == 1.6e-79; MEOW:FBgn0000253 (97%) |species == rice; score == 276; expect == 3.0e-75; MEOW:gnl|TIGR|8353.m03662 (90%) |species == rice; score == 276; expect == 3.0e-75; MEOW:gnl|TIGR|8360.m01876 (90%) |species == Weed; gene == At3g43810; score == 275; expect == 6.6e-75; MEOW:ATgn0015991 (89%) |species == Weed; gene == At2g27030; score == 274; expect == 1.5e-74; MEOW:ATgn0009867 (89%) |species == Weed; gene == At2g41110; score == 274; expect == 1.5e-74; MEOW:ATgn0010864 (89%) |species == Weed; gene == At3g56800; score == 274; expect == 1.5e-74; MEOW:ATgn0016412 (89%) |species == rice; score == 274; expect == 2.3e-74; MEOW:gnl|TIGR|8355.m04670 (90%) |species == Weed; gene == At1g66410; score == 273; expect == 1.9e-74; MEOW:ATgn0005396 (89%) |species == Weed; gene == At5g37780; score == 273; expect == 1.9e-74; MEOW:ATgn0023866 (89%) |species == Weed; gene == At5g21274; score == 273; expect == 1.9e-74; MEOW:ATgn0030554 (89%) |species == rice; score == 273; expect == 2.6e-74; MEOW:gnl|TIGR|8350.m01625 (89%) |species == rice; score == 271; expect == 1.2e-73; MEOW:gnl|TIGR|8350.m01531 (91%) |species == Mouse; gene == 2310068O22Rik; score == 269; expect == 3.2e-73; MEOW:MGgn0020077 (87%) |species == rat; score == 269; expect == 4.7e-73; MEOW:ref|XP_225550.1| (87%) |species == Human; gene == CALML3; score == 263; expect == 3.4e-71; MEOW:HUgn0000810 (84%) |species == rice; score == 246; expect == 6.7e-66; MEOW:gnl|TIGR|8350.m05576 (79%) |species == Weed; gene == At3g22930; score == 227; expect == 1.6e-60; MEOW:ATgn0014815 (74%) |species == Yeast; gene == CMD1; score == 190; expect == 2.7e-49; MEOW:SGgn0000313 (59%) |species == Zfish; gene == tnnc; score == 165; expect == 4.7e-43; MEOW:ZFgn0000878 (53%) } # EOR GENR { RETE|ID 1 HUgn0000802 CHR 1 X DID 1 LocusLink:802 MAP 1 Xq21.33 NAM 1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 ORG 1 Homo sapiens SYM 1 CALM1P1 ID|HUgn0000802 DID|LocusLink:802 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U12435 SYM|CALM1P1 NAM|calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 CHR|X MAP|Xq21.33 DBL|SNP:802 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681440 } # EOR GENR { RETE|ID 1 HUgn0000803 CHR 1 17 DID 1 LocusLink:803 MAP 1 17q24.3 NAM 1 calmodulin 2 pseudogene 1 ORG 1 Homo sapiens SYM 1 CALM2P1 ID|HUgn0000803 DID|LocusLink:803 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X13907 SYM|CALM2P1 NAM|calmodulin 2 pseudogene 1 CHR|17 MAP|17q24.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128687 } # EOR GENR { RETE|ID 1 HUgn0000804 CHR 1 7 DID 1 LocusLink:804 MAP 1 7p11.2 NAM 1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 ORG 1 Homo sapiens SYM 1 CALM1P2 ID|HUgn0000804 DID|LocusLink:804 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U12475 SYM|CALM1P2 NAM|calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 CHR|7 PRD|TCAG_1643085 MAP|7p11.2 DBL|SNP:804 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433806 } # EOR GENR { RETE|ID 1 HUgn0000805 CHR 1 2 DID 1 LocusLink:805 MAP 1 2p21 NAM 1 calmodulin 2 (phosphorylase kinase, delta) ORG 1 Homo sapiens SYM 1 CALM2 ID|HUgn0000805 DID|LocusLink:805 ORG|Homo sapiens RSQ|REFSEQ:NM_001743 RPA|REFPROT:NP_001734 DBA|XM:NM_001743 |NA:U94725 |NA:U94726 |NA:U94727 |NA:U94728 |NA:AK055130 |NA:BC003354 |NA:BC006464 |NA:BC008437 |NA:BC017385 |NA:BC018677 |NA:BC026065 |NA:BC047553 |NA:D16988 |NA:D45887 |NA:M19311 |NA:none PAC|XP:NP_001734 SYM|CALM2 NAM|calmodulin 2 (phosphorylase kinase, delta) SYN|PHKD |CAMII |PHKD2 FNC|calmodulin 2 CHR|2 PRD|phosphorylase kinase delta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=425808 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=805[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127561 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001743 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001743 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=425808 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.425808 |OMIM:114182 |SNP:805 MAP|2p21 HG|species == Human; gene == CALM1; score == 297; expect == 2.1e-81; MEOW:HUgn0000801 (100%) |species == Mouse; gene == Calm1; score == 297; expect == 1.5e-81; MEOW:MGgn0000995 (100%) |species == Mouse; gene == Calm2; score == 297; expect == 1.5e-81; MEOW:MGgn0000996 (100%) |species == Mouse; gene == Calm3; score == 297; expect == 1.5e-81; MEOW:MGgn0000997 (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|NP_036650.1| (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|NP_059022.1| (100%) |species == rat; score == 297; expect == 2.1e-81; MEOW:ref|XP_237641.2| (100%) |species == Mosquito; score == 292; expect == 4.1e-80; MEOW:AGgn0012700 (97%) |species == Worm; gene == cmd-1; score == 291; expect == 6.3e-80; MEOW:CEgn0016585 (97%) |species == Human; gene == CALM3; score == 291; expect == 8.9e-80; MEOW:HUgn0000808 (98%) |species == Fruitfly; gene == Cam; score == 290; expect == 1.6e-79; MEOW:FBgn0000253 (97%) |species == rice; score == 276; expect == 3.0e-75; MEOW:gnl|TIGR|8353.m03662 (90%) |species == rice; score == 276; expect == 3.0e-75; MEOW:gnl|TIGR|8360.m01876 (90%) |species == Weed; gene == At3g43810; score == 275; expect == 6.6e-75; MEOW:ATgn0015991 (89%) |species == Weed; gene == At2g27030; score == 274; expect == 1.5e-74; MEOW:ATgn0009867 (89%) |species == Weed; gene == At2g41110; score == 274; expect == 1.5e-74; MEOW:ATgn0010864 (89%) |species == Weed; gene == At3g56800; score == 274; expect == 1.5e-74; MEOW:ATgn0016412 (89%) |species == rice; score == 274; expect == 2.3e-74; MEOW:gnl|TIGR|8355.m04670 (90%) |species == Weed; gene == At1g66410; score == 273; expect == 1.9e-74; MEOW:ATgn0005396 (89%) |species == Weed; gene == At5g37780; score == 273; expect == 1.9e-74; MEOW:ATgn0023866 (89%) |species == Weed; gene == At5g21274; score == 273; expect == 1.9e-74; MEOW:ATgn0030554 (89%) |species == rice; score == 273; expect == 2.6e-74; MEOW:gnl|TIGR|8350.m01625 (89%) |species == rice; score == 271; expect == 1.2e-73; MEOW:gnl|TIGR|8350.m01531 (91%) |species == Mouse; gene == 2310068O22Rik; score == 269; expect == 3.2e-73; MEOW:MGgn0020077 (87%) |species == rat; score == 269; expect == 4.7e-73; MEOW:ref|XP_225550.1| (87%) |species == Human; gene == CALML3; score == 263; expect == 3.4e-71; MEOW:HUgn0000810 (84%) |species == rice; score == 246; expect == 6.7e-66; MEOW:gnl|TIGR|8350.m05576 (79%) |species == Weed; gene == At3g22930; score == 227; expect == 1.6e-60; MEOW:ATgn0014815 (74%) |species == Yeast; gene == CMD1; score == 190; expect == 2.7e-49; MEOW:SGgn0000313 (59%) |species == Zfish; gene == tnnc; score == 165; expect == 4.7e-43; MEOW:ZFgn0000878 (53%) } # EOR GENR { RETE|ID 1 HUgn0000806 CHR 1 10 DID 1 LocusLink:806 MAP 1 10q22.2 NAM 1 calmodulin 2 pseudogene 2 ORG 1 Homo sapiens SYM 1 CALM2P2 ID|HUgn0000806 DID|LocusLink:806 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X52955 SYM|CALM2P2 NAM|calmodulin 2 pseudogene 2 CHR|10 MAP|10q22.2 DBL|SNP:806 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128591 } # EOR GENR { RETE|ID 1 HUgn0000807 DID 1 LocusLink:807 NAM 1 calmodulin 2 pseudogene 3 ORG 1 Homo sapiens SYM 1 CALM2P3 ID|HUgn0000807 DID|LocusLink:807 CLA|Pseudogene ORG|Homo sapiens SYM|CALM2P3 NAM|calmodulin 2 pseudogene 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128592 } # EOR GENR { RETE|ID 1 HUgn0000808 CHR 1 19 DID 1 LocusLink:808 MAP 1 19q13.2-q13.3 NAM 1 calmodulin 3 (phosphorylase kinase, delta) ORG 1 Homo sapiens SYM 1 CALM3 ID|HUgn0000808 DID|LocusLink:808 ORG|Homo sapiens RSQ|REFSEQ:NM_005184 RPA|REFPROT:NP_005175 DBA|XM:NM_005184 |NA:X52606 |NA:AK094964 |NA:AL050207 |NA:BC005137 |NA:BC006182 |NA:BT006855 |NA:J04046 PAC|XP:NP_005175 SYM|CALM3 NAM|calmodulin 3 (phosphorylase kinase, delta) SYN|PHKD |PHKD3 FNC|calmodulin 3 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334330 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=808[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005184 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005184 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26042 DBL|UNIGENE:Hs.334330 |OMIM:114183 |SNP:808 MAP|19q13.2-q13.3 PHP|Calmodulin 3; binds calcium ENZ|calcium ion binding ; GO:0005509 HG|species == Human; gene == CALM1; score == 291; expect == 8.9e-80; MEOW:HUgn0000801 (98%) |species == Human; gene == CALM2; score == 291; expect == 8.9e-80; MEOW:HUgn0000805 (98%) |species == Mouse; gene == Calm1; score == 291; expect == 6.3e-80; MEOW:MGgn0000995 (98%) |species == Mouse; gene == Calm2; score == 291; expect == 6.3e-80; MEOW:MGgn0000996 (98%) |species == Mouse; gene == Calm3; score == 291; expect == 6.3e-80; MEOW:MGgn0000997 (98%) |species == rat; score == 291; expect == 8.9e-80; MEOW:ref|NP_036650.1| (98%) |species == rat; score == 291; expect == 8.9e-80; MEOW:ref|NP_059022.1| (98%) |species == rat; score == 291; expect == 8.9e-80; MEOW:ref|XP_237641.2| (98%) |species == Mosquito; score == 286; expect == 1.8e-78; MEOW:AGgn0012700 (96%) |species == Worm; gene == cmd-1; score == 286; expect == 2.8e-78; MEOW:CEgn0016585 (96%) |species == Fruitfly; gene == Cam; score == 284; expect == 1.1e-77; MEOW:FBgn0000253 (96%) |species == rice; score == 271; expect == 1.2e-73; MEOW:gnl|TIGR|8353.m03662 (88%) |species == rice; score == 271; expect == 1.2e-73; MEOW:gnl|TIGR|8360.m01876 (88%) |species == Weed; gene == At3g43810; score == 270; expect == 2.8e-73; MEOW:ATgn0015991 (88%) |species == rice; score == 269; expect == 1.0e-72; MEOW:gnl|TIGR|8355.m04670 (88%) |species == Weed; gene == At1g66410; score == 268; expect == 8.0e-73; MEOW:ATgn0005396 (87%) |species == Weed; gene == At2g27030; score == 268; expect == 6.2e-73; MEOW:ATgn0009867 (87%) |species == Weed; gene == At2g41110; score == 268; expect == 6.2e-73; MEOW:ATgn0010864 (87%) |species == Weed; gene == At3g56800; score == 268; expect == 6.2e-73; MEOW:ATgn0016412 (87%) |species == Weed; gene == At5g37780; score == 268; expect == 8.0e-73; MEOW:ATgn0023866 (87%) |species == Weed; gene == At5g21274; score == 268; expect == 8.0e-73; MEOW:ATgn0030554 (87%) |species == rice; score == 268; expect == 1.1e-72; MEOW:gnl|TIGR|8350.m01625 (87%) |species == rice; score == 265; expect == 1.1e-71; MEOW:gnl|TIGR|8350.m01531 (89%) |species == Mouse; gene == 2310068O22Rik; score == 263; expect == 1.4e-71; MEOW:MGgn0020077 (85%) |species == rat; score == 263; expect == 2.0e-71; MEOW:ref|XP_225550.1| (85%) |species == Human; gene == CALML3; score == 257; expect == 1.4e-69; MEOW:HUgn0000810 (82%) |species == rice; score == 241; expect == 2.9e-64; MEOW:gnl|TIGR|8350.m05576 (78%) |species == Weed; gene == At3g22930; score == 222; expect == 7.0e-59; MEOW:ATgn0014815 (73%) |species == Yeast; gene == CMD1; score == 184; expect == 1.1e-47; MEOW:SGgn0000313 (58%) |species == Zfish; gene == tnnc; score == 160; expect == 2.1e-41; MEOW:ZFgn0000878 (52%) } # EOR GENR { RETE|ID 1 HUgn0000809 CHR 1 7 DID 1 LocusLink:809 MAP 1 7pter-p13 NAM 1 calmodulin-like 1 ORG 1 Homo sapiens SYM 1 CALML1 ID|HUgn0000809 DID|LocusLink:809 ORG|Homo sapiens SYM|CALML1 NAM|calmodulin-like 1 CHR|7 DBL|OMIM:114181 MAP|7pter-p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119746 } # EOR GENR { RETE|ID 1 HUgn0000810 CHR 1 10 DID 1 LocusLink:810 MAP 1 10pter-p13 NAM 1 calmodulin-like 3 ORG 1 Homo sapiens SYM 1 CALML3 ID|HUgn0000810 DID|LocusLink:810 ORG|Homo sapiens RSQ|REFSEQ:NM_005185 RPA|REFPROT:NP_005176 DBA|XM:NM_005185 |NA:X13461 |NA:BC031889 |NA:M36707 |NA:M58026 |NA:none PAC|XP:NP_005176 SYM|CALML3 NAM|calmodulin-like 3 SYN|CLP FNC|calmodulin-like 3 CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=239600 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=810[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138290 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005185 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005185 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=239600 DBL|UNIGENE:Hs.239600 |OMIM:114184 |SNP:810 MAP|10pter-p13 ENZ|calcium ion binding ; GO:0005509 HG|species == rat; score == 275; expect == 5.0e-75; MEOW:ref|XP_225550.1| (90%) |species == Mouse; gene == 2310068O22Rik; score == 270; expect == 1.9e-73; MEOW:MGgn0020077 (89%) |species == Mosquito; score == 264; expect == 1.2e-71; MEOW:AGgn0012700 (85%) |species == Weed; gene == At5g21274; score == 263; expect == 2.0e-71; MEOW:ATgn0030554 (82%) |species == Worm; gene == cmd-1; score == 263; expect == 1.8e-71; MEOW:CEgn0016585 (85%) |species == Human; gene == CALM1; score == 263; expect == 3.4e-71; MEOW:HUgn0000801 (84%) |species == Human; gene == CALM2; score == 263; expect == 3.4e-71; MEOW:HUgn0000805 (84%) |species == Mouse; gene == Calm1; score == 263; expect == 2.3e-71; MEOW:MGgn0000995 (84%) |species == Mouse; gene == Calm2; score == 263; expect == 2.3e-71; MEOW:MGgn0000996 (84%) |species == Mouse; gene == Calm3; score == 263; expect == 2.3e-71; MEOW:MGgn0000997 (84%) |species == rat; score == 263; expect == 3.4e-71; MEOW:ref|NP_036650.1| (84%) |species == rat; score == 263; expect == 3.4e-71; MEOW:ref|NP_059022.1| (84%) |species == rat; score == 263; expect == 3.4e-71; MEOW:ref|XP_237641.2| (84%) |species == Weed; gene == At3g43810; score == 262; expect == 4.4e-71; MEOW:ATgn0015991 (81%) |species == Fruitfly; gene == Cam; score == 262; expect == 2.7e-71; MEOW:FBgn0000253 (85%) |species == rice; score == 262; expect == 1.2e-70; MEOW:gnl|TIGR|8353.m03662 (81%) |species == rice; score == 262; expect == 1.2e-70; MEOW:gnl|TIGR|8360.m01876 (81%) |species == Weed; gene == At2g27030; score == 261; expect == 9.8e-71; MEOW:ATgn0009867 (81%) |species == Weed; gene == At2g41110; score == 261; expect == 9.8e-71; MEOW:ATgn0010864 (81%) |species == Weed; gene == At3g56800; score == 261; expect == 9.8e-71; MEOW:ATgn0016412 (81%) |species == Weed; gene == At1g66410; score == 260; expect == 1.7e-70; MEOW:ATgn0005396 (80%) |species == Weed; gene == At5g37780; score == 260; expect == 1.7e-70; MEOW:ATgn0023866 (80%) |species == rice; score == 260; expect == 1.1e-69; MEOW:gnl|TIGR|8355.m04670 (81%) |species == rice; score == 259; expect == 5.0e-70; MEOW:gnl|TIGR|8350.m01625 (80%) |species == Human; gene == CALM3; score == 257; expect == 1.4e-69; MEOW:HUgn0000808 (82%) |species == rice; score == 257; expect == 1.8e-69; MEOW:gnl|TIGR|8350.m01531 (83%) |species == rice; score == 235; expect == 2.0e-62; MEOW:gnl|TIGR|8350.m05576 (73%) |species == Weed; gene == At3g22930; score == 216; expect == 3.7e-57; MEOW:ATgn0014815 (68%) |species == Weed; gene == At4g14640; score == 211; expect == 1.5e-55; MEOW:ATgn0018938 (65%) |species == Yeast; gene == CMD1; score == 180; expect == 2.8e-46; MEOW:SGgn0000313 (56%) |species == Zfish; gene == tnnc; score == 152; expect == 4.2e-39; MEOW:ZFgn0000878 (46%) } # EOR GENR { RETE|ID 1 HUgn0000811 CHR 1 19 DID 1 LocusLink:811 MAP 1 19p13.3-p13.2 NAM 1 calreticulin ORG 1 Homo sapiens SYM 1 CALR ID|HUgn0000811 DID|LocusLink:811 ORG|Homo sapiens RSQ|REFSEQ:NM_004343 RPA|REFPROT:NP_004334 DBA|XM:NM_004343 |NA:AD000092 |NA:AY047586 |NA:BC002500 |NA:BC007911 |NA:BC020493 |NA:BT007448 |NA:M32294 |NA:M84739 |NA:none PAC|XP:NP_004334 SYM|CALR NAM|calreticulin SYN|RO |SSA |cC1qR FNC|calreticulin precursor |regulation of transcription, DNA-dependent ; GO:0006355 REAB|Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) |protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, |suggesting that it may have a role in transcription regulation. Calreticulin binds |to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence |in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin |binds to antibodies in certain sera of systemic lupus and Sjogren patients which |contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is |located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. |The amino terminus of calreticulin interacts with the DNA-binding domain of the |glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid |response element. Calreticulin can inhibit the binding of androgen receptor to its |hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid |receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal |differentiation. Thus, calreticulin can act as an important modulator of the regulation |of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus |is associated with increased autoantibody titers against calreticulin but calreticulin |is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A |antigen but this was later disproven. Increased autoantibody titer against human |calreticulin is found in infants with complete congenital heart block of both the |IgG and IgM classes. CHR|19 PRD|autoantigen Ro |Sicca syndrome antigen A (autoantigen Ro; calreticulin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=353170 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=811[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125179 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004343 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004343 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=353170 DBL|UNIGENE:Hs.353170 |OMIM:109091 |SNP:811 MAP|19p13.3-p13.2 ENZ|transcription co-repressor activity ; GO:0003714 |calcium ion storage activity ; GO:0005514 CEL|endoplasmic reticulum lumen ; GO:0005788 |nucleus ; GO:0005634 HG|species == rat; score == 658; expect == 0.0; MEOW:ref|NP_071794.1| (96%) |species == Mouse; gene == Calr; score == 657; expect == 0.0; MEOW:MGgn0000999 (96%) |species == Zfish; gene == calr; score == 546; expect == 4e-157; MEOW:ZFgn0000696 (79%) |species == Mosquito; score == 483; expect == 6e-137; MEOW:AGgn0012895 (74%) |species == Fruitfly; gene == Crc; score == 472; expect == 9e-134; MEOW:FBgn0005585 (71%) |species == rice; score == 389; expect == 5e-108; MEOW:gnl|TIGR|8355.m01338 (58%) |species == Weed; gene == At1g09210; score == 386; expect == 1e-107; MEOW:ATgn0003019 (56%) |species == Human; gene == CALR3; score == 383; expect == 8e-107; MEOW:HUgn0125972 (53%) |species == rice; score == 379; expect == 2e-105; MEOW:gnl|TIGR|8360.m05576 (55%) |species == Weed; gene == At1g56340; score == 377; expect == 7e-105; MEOW:ATgn0002470 (54%) |species == Weed; gene == At1g08450; score == 360; expect == 1.1e-99; MEOW:ATgn0002132 (52%) |species == rice; score == 334; expect == 1.4e-91; MEOW:gnl|TIGR|8353.m03814 (49%) |species == Worm; gene == cnx-1; score == 210; expect == 2.2e-54; MEOW:CEgn0000239 (35%) } # EOR GENR { RETE|ID 1 HUgn0000813 CHR 1 7 DID 1 LocusLink:813 MAP 1 7q32 NAM 1 calumenin ORG 1 Homo sapiens SYM 1 CALU ID|HUgn0000813 DID|LocusLink:813 ORG|Homo sapiens RSQ|REFSEQ:NM_001219 RPA|REFPROT:NP_001210 DBA|XM:NM_001219 |XM:NM_001219 |NA:AF013759 |NA:AF257659 |NA:AF345637 |NA:AK027460 |NA:AK056338 |NA:AK074862 |NA:BC013383 |NA:U67280 |NA:none PAC|XP:NP_001210 |XP:NP_001210 SYM|CALU NAM|calumenin FNC|calumenin precursor REAB|Calumenin (CALU) is a calcium-binding protein localized in the endoplasmic reticulum |(ER) and is involved in such ER functions as protein folding and sorting. Calumenin |is a member of the EF-hand superfamily in the ER and Golgi apparatus named CERC. |CERC is an acronym for its family members Cab-45, reticulocalbin, Erc-55, and calumenin. |The CALU gene encodes a deduced 315-amino acid protein containing 6 EF-hand motifs, |1 potential N-glycosylation site, and a C-terminal ER retention signal. The human |and mouse CALU proteins are 98% identical. CALU mRNA is ubiquitously expressed in |human tissues and maps to 7q32. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7753 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=813[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6383033 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001219 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001219 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7753 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26047 DBL|UNIGENE:Hs.7753 |OMIM:603420 |SNP:813 MAP|7q32 ENZ|calcium ion binding ; GO:0005509 CEL|Golgi apparatus ; GO:0005794 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Calu; score == 647; expect == 0.0; MEOW:MGgn0001003 (98%) |species == rat; score == 607; expect == 3e-174; MEOW:ref|XP_346695.1| (91%) |species == Human; gene == RCN1; score == 403; expect == 7e-113; MEOW:HUgn0005954 (61%) |species == Human; gene == LOC338851; score == 374; expect == 3e-104; MEOW:HUgn0338851 (58%) |species == Mosquito; score == 364; expect == 2e-101; MEOW:AGgn0010221 (55%) |species == Human; gene == RCN3; score == 325; expect == 2.0e-89; MEOW:HUgn0057333 (50%) |species == Worm; gene == M03F4.7a; score == 298; expect == 1.4e-81; MEOW:CEgn0034162 (50%) |species == Fruitfly; gene == scf; score == 216; expect == 6.0e-57; MEOW:FBgn0025682 (55%) |species == Fruitfly; gene == CG9112; score == 182; expect == 1.6e-46; MEOW:FBgn0031673 (36%) } # EOR GENR { RETE|ID 1 HUgn0000814 CHR 1 5 DID 1 LocusLink:814 MAP 1 5q21.3 NAM 1 calcium/calmodulin-dependent protein kinase IV ORG 1 Homo sapiens SYM 1 CAMK4 ID|HUgn0000814 DID|LocusLink:814 ORG|Homo sapiens RSQ|REFSEQ:NM_001744 RPA|REFPROT:NP_001735 DBA|XM:NM_001744 |NA:BC016695 |NA:BC025687 |NA:BG721313 |NA:D30742 |NA:L17000 |NA:L24959 |NA:none |NA:AL833368 PAC|XP:NP_001735 SYM|CAMK4 NAM|calcium/calmodulin-dependent protein kinase IV SYN|CaMK-GR |MGC36771 FNC|calcium/calmodulin-dependent protein kinase IV |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The product of this gene belongs to the serine/threonine protein kinase family, and |to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional |serine/threonine protein kinase with limited tissue distribution, that has been |implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. CHR|5 PRD|CAM kinase IV |CAM kinase- GR |brain Ca(2+)-calmodulin-dependent protein kinase type IV |calcium/calmodulin-dependent protein kinase type IV catalytic chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440638 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=814[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001744 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001744 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440638 DBL|UNIGENE:Hs.440638 |OMIM:114080 |SNP:814 ENZ|EC:2.7.1.123 |calcium/calmodulin-dependent protein kinase activity ; GO:0004685 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |calmodulin binding ; GO:0005516 |transferase activity ; GO:0016740 MAP|5q21.3 HG|species == rat; score == 644; expect == 0.0; MEOW:ref|NP_036859.1| (81%) |species == Mouse; gene == Camk4; score == 643; expect == 0.0; MEOW:MGgn0001009 (80%) |species == Mosquito; gene == LOC19618; score == 283; expect == 1.1e-76; MEOW:AGgn0019618 (49%) |species == Human; gene == LOC139728; score == 278; expect == 5.1e-75; MEOW:HUgn0139728 (44%) |species == Human; gene == CAMK1; score == 276; expect == 1.7e-74; MEOW:HUgn0008536 (45%) |species == Human; gene == CAMK1D; score == 273; expect == 1.1e-73; MEOW:HUgn0057118 (44%) |species == Human; gene == CAMK1G; score == 263; expect == 1.6e-70; MEOW:HUgn0057172 (48%) |species == Human; gene == CAMK2D; score == 249; expect == 2.5e-66; MEOW:HUgn0000817 (42%) |species == Fruitfly; gene == CaMKII; score == 245; expect == 6.4e-65; MEOW:FBgn0004624 (43%) |species == Human; gene == CAMK2G; score == 241; expect == 5.2e-64; MEOW:HUgn0000818 (37%) |species == Mosquito; gene == LOC17518; score == 240; expect == 1.1e-63; MEOW:AGgn0017518 (42%) |species == Weed; gene == At4g04740; score == 240; expect == 1.1e-63; MEOW:ATgn0020651 (42%) |species == Human; gene == CAMK2A; score == 238; expect == 5.6e-63; MEOW:HUgn0000815 (42%) |species == Weed; gene == At4g04720; score == 237; expect == 1.1e-62; MEOW:ATgn0020647 (42%) |species == Human; gene == PSKH1; score == 237; expect == 8.1e-63; MEOW:HUgn0005681 (43%) |species == Human; gene == KIAA1765; score == 234; expect == 2.2e-61; MEOW:HUgn0085443 (44%) |species == Human; gene == CAMK2B; score == 233; expect == 2.0e-61; MEOW:HUgn0000816 (41%) |species == Human; gene == DCAMKL1; score == 231; expect == 8.4e-61; MEOW:HUgn0009201 (39%) |species == Weed; gene == At5g19450; score == 230; expect == 1.7e-60; MEOW:ATgn0025024 (35%) |species == Weed; gene == At4g21940; score == 229; expect == 2.3e-60; MEOW:ATgn0020442 (41%) |species == Weed; gene == At5g12480; score == 229; expect == 2.2e-60; MEOW:ATgn0030170 (42%) |species == Weed; gene == At3g57530; score == 226; expect == 1.9e-59; MEOW:ATgn0017110 (43%) |species == Fruitfly; gene == CaMKI; score == 226; expect == 1.4e-59; MEOW:FBgn0016126 (52%) |species == rice; score == 226; expect == 1.9e-59; MEOW:gnl|TIGR|8355.m03099 (41%) |species == Weed; gene == At3g10660; score == 225; expect == 6.9e-59; MEOW:ATgn0014989 (41%) |species == Human; gene == MGC8407; score == 225; expect == 3.9e-59; MEOW:HUgn0079012 (41%) |species == Weed; gene == At1g74740; score == 223; expect == 1.6e-58; MEOW:ATgn0001020 (39%) |species == rice; score == 223; expect == 1.5e-58; MEOW:gnl|TIGR|8358.m00621 (42%) |species == Weed; gene == At5g04870; score == 222; expect == 4.2e-58; MEOW:ATgn0024791 (41%) |species == Weed; gene == At1g50700; score == 221; expect == 1.0e-57; MEOW:ATgn0001889 (40%) |species == Weed; gene == At2g38910; score == 221; expect == 6.7e-58; MEOW:ATgn0009461 (40%) |species == Weed; gene == At5g19360; score == 221; expect == 7.7e-58; MEOW:ATgn0025007 (39%) |species == rice; score == 221; expect == 9.3e-58; MEOW:gnl|TIGR|8359.m02826 (39%) |species == rice; score == 221; expect == 6.6e-58; MEOW:gnl|TIGR|8360.m05164 (40%) |species == Weed; gene == At2g41860; score == 220; expect == 1.5e-57; MEOW:ATgn0007601 (42%) |species == rice; score == 220; expect == 1.5e-57; MEOW:gnl|TIGR|8350.m05773 (41%) |species == rice; score == 220; expect == 2.0e-57; MEOW:gnl|TIGR|8360.m05158 (40%) |species == Weed; gene == At1g18890; score == 219; expect == 3.4e-57; MEOW:ATgn0000724 (42%) |species == Weed; gene == At5g12180; score == 219; expect == 3.9e-57; MEOW:ATgn0025325 (40%) |species == Weed; gene == At3g51850; score == 218; expect == 8.6e-57; MEOW:ATgn0011634 (39%) |species == rice; score == 217; expect == 2.8e-56; MEOW:gnl|TIGR|8355.m03610 (42%) |species == rice; score == 216; expect == 1.9e-56; MEOW:gnl|TIGR|8359.m00621 (40%) |species == rice; score == 214; expect == 1.4e-55; MEOW:gnl|TIGR|8360.m05349 (42%) |species == rice; score == 213; expect == 2.0e-55; MEOW:gnl|TIGR|8350.m05560 (38%) |species == rice; score == 213; expect == 2.1e-55; MEOW:gnl|TIGR|8358.m00316 (38%) |species == rice; score == 213; expect == 2.2e-55; MEOW:gnl|TIGR|8359.m00296 (38%) |species == Weed; gene == At2g31500; score == 211; expect == 9.1e-55; MEOW:ATgn0008575 (33%) |species == Weed; gene == At1g35670; score == 210; expect == 1.7e-54; MEOW:ATgn0005346 (42%) |species == Yeast; gene == CMK2; score == 210; expect == 1.1e-54; MEOW:SGgn0005376 (37%) |species == rice; score == 210; expect == 1.5e-54; MEOW:gnl|TIGR|8355.m00566 (40%) |species == Weed; gene == At2g35890; score == 209; expect == 3.9e-54; MEOW:ATgn0007660 (39%) |species == Weed; gene == At3g20410; score == 209; expect == 3.2e-54; MEOW:ATgn0013110 (40%) |species == Weed; gene == At4g09570; score == 209; expect == 2.2e-54; MEOW:ATgn0019898 (42%) |species == Worm; gene == R06A10.4; score == 209; expect == 2.8e-54; MEOW:CEgn0014485 (35%) |species == Weed; gene == At2g17290; score == 208; expect == 7.1e-54; MEOW:ATgn0028316 (38%) |species == Weed; gene == At1g61950; score == 207; expect == 1.6e-53; MEOW:ATgn0006446 (38%) |species == Weed; gene == At4g23650; score == 207; expect == 1.5e-53; MEOW:ATgn0018037 (40%) |species == rice; score == 207; expect == 1.2e-53; MEOW:gnl|TIGR|8351.m04368 (38%) |species == rice; score == 207; expect == 1.5e-53; MEOW:gnl|TIGR|8352.m04386 (40%) |species == rice; score == 207; expect == 2.2e-53; MEOW:gnl|TIGR|8359.m02840 (43%) |species == Weed; gene == At4g38230; score == 206; expect == 3.1e-53; MEOW:ATgn0019494 (37%) |species == Weed; gene == At5g23580; score == 203; expect == 2.6e-52; MEOW:ATgn0022480 (42%) |species == Weed; gene == At4g35310; score == 199; expect == 2.6e-51; MEOW:ATgn0019978 (37%) |species == Yeast; gene == CMK1; score == 198; expect == 4.4e-51; MEOW:SGgn0001910 (33%) |species == rice; score == 198; expect == 1.0e-50; MEOW:gnl|TIGR|8356.m04166 (34%) |species == rice; score == 198; expect == 5.9e-51; MEOW:gnl|TIGR|8360.m00262 (38%) |species == rice; score == 196; expect == 3.3e-50; MEOW:gnl|TIGR|8351.m05637 (38%) |species == rice; score == 196; expect == 2.3e-50; MEOW:gnl|TIGR|8352.m04605 (38%) |species == Weed; gene == At3g56760; score == 195; expect == 6.7e-50; MEOW:ATgn0016408 (41%) |species == Weed; gene == At3g19100; score == 195; expect == 7.0e-50; MEOW:ATgn0016532 (41%) |species == rice; score == 195; expect == 5.6e-50; MEOW:gnl|TIGR|8357.m02873 (38%) |species == Worm; gene == C44C8.6a; score == 194; expect == 4.7e-50; MEOW:CEgn0027841 (41%) |species == Worm; gene == C44C8.6b; score == 194; expect == 4.7e-50; MEOW:CEgn0027842 (41%) |species == rice; score == 194; expect == 7.7e-50; MEOW:gnl|TIGR|8350.m04003 (40%) |species == rice; score == 194; expect == 9.6e-50; MEOW:gnl|TIGR|8353.m04539 (40%) |species == Yeast; gene == DUN1; score == 193; expect == 4.3e-50; MEOW:SGgn0002259 (37%) |species == rice; score == 193; expect == 2.1e-49; MEOW:gnl|TIGR|8353.m03446 (32%) |species == Weed; gene == At2g41140; score == 192; expect == 5.6e-49; MEOW:ATgn0010869 (41%) |species == Worm; gene == K12C11.4; score == 192; expect == 1.6e-48; MEOW:CEgn0013860 (35%) |species == rice; score == 191; expect == 1.5e-48; MEOW:gnl|TIGR|8354.m00262 (38%) |species == Worm; gene == F12F3.2a; score == 187; expect == 7.6e-48; MEOW:CEgn0031915 (39%) |species == Worm; gene == F12F3.2b; score == 187; expect == 7.6e-48; MEOW:CEgn0031916 (39%) |species == rice; score == 187; expect == 2.0e-47; MEOW:gnl|TIGR|8362.m02905 (40%) |species == rice; score == 187; expect == 1.7e-47; MEOW:gnl|TIGR|8362.m03181 (35%) |species == chimp; score == 186; expect == 3.4e-49; MEOW:sp|BAC81132|BAC81132 (37%) |species == rice; score == 185; expect == 6.9e-47; MEOW:gnl|TIGR|8360.m02259 (39%) |species == rice; score == 184; expect == 1.7e-46; MEOW:gnl|TIGR|8355.m04075 (38%) |species == Worm; gene == T01H8.1b; score == 181; expect == 5.4e-46; MEOW:CEgn0015173 (38%) |species == rice; score == 181; expect == 1.3e-45; MEOW:gnl|TIGR|8355.m04270 (41%) |species == Zfish; gene == cask; score == 176; expect == 1.0e-45; MEOW:ZFgn0002612 (33%) |species == Worm; gene == PAR2.3a; score == 170; expect == 9.6e-43; MEOW:CEgn0032346 (39%) |species == Worm; gene == C54G4.1; score == 168; expect == 4.7e-42; MEOW:CEgn0007120 (35%) |species == Zfish; gene == stka; score == 141; expect == 6.1e-35; MEOW:ZFgn0002572 (33%) } # EOR GENR { RETE|ID 1 HUgn0000815 CHR 1 5 DID 1 LocusLink:815 MAP 1 5q33.1 NAM 1 calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha ORG 1 Homo sapiens SYM 1 CAMK2A ID|HUgn0000815 DID|LocusLink:815 ORG|Homo sapiens RSQ|REFSEQ:NM_015981 |REFSEQ:NM_171825 RPA|REFPROT:NP_057065 |REFPROT:NP_741960 DBA|XM:NM_015981 |XM:NM_171825 |NA:AB023185 |NA:AF091486 |NA:AF145710 |NA:AF145711 |NA:BC040457 |NA:none PAC|XP:NP_057065 |XP:NP_741960 SYM|CAMK2A NAM|calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha SYN|CAMKA |KIAA0968 FNC|calcium/calmodulin-dependent protein kinase IIA isoform 1 |calcium/calmodulin-dependent protein kinase IIA isoform 2 |protein amino acid phosphorylation ; GO:0006468 REAB|The product of this gene belongs to the Serine/Threonine protein kinases family, |and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling |is crucial for several aspects of plasticity at glutamatergic synapses. This enzyme |is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain |encoded by this gene is required for hippocampal long-term potentiation (LTP) and |spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, |this protein can undergo autophosphorylation, resulting in CaM-independent activity. |Two transcript variants encoding distinct isoforms have been identified for this |gene. CHR|5 PRD|CaMK-II alpha subunit |CaM-kinase II alpha chain |CaM kinase II alpha subunit |calcium/calmodulin-dependent protein kinase II alpha-B subunit |calcium/calmodulin-dependent protein kinase type II alpha chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=143535 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=815[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250320 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015981 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015981 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=143535 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0968 DBL|UNIGENE:Hs.143535 |OMIM:114078 |SNP:815 ENZ|EC:2.7.1.123 |calcium/calmodulin-dependent protein kinase activity ; GO:0004685 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |calmodulin binding ; GO:0005516 |transferase activity ; GO:0016740 MAP|5q33.1 HG|species == rat; score == 947; expect == 0.0; MEOW:ref|NP_037052.1| (97%) |species == Human; gene == CAMK2D; score == 857; expect == 0.0; MEOW:HUgn0000817 (85%) |species == Mouse; gene == Camk2d; score == 857; expect == 0.0; MEOW:MGgn0001007 (85%) |species == rat; score == 847; expect == 0.0; MEOW:ref|NP_036651.1| (81%) |species == Human; gene == CAMK2G; score == 834; expect == 0.0; MEOW:HUgn0000818 (82%) |species == rat; score == 833; expect == 0.0; MEOW:ref|NP_068507.1| (76%) |species == Mouse; gene == Camk2b; score == 831; expect == 0.0; MEOW:MGgn0001006 (76%) |species == rat; score == 807; expect == 0.0; MEOW:ref|NP_598289.1| (78%) |species == Fruitfly; gene == CaMKII; score == 746; expect == 0.0; MEOW:FBgn0004624 (72%) |species == Mosquito; gene == LOC17518; score == 741; expect == 0.0; MEOW:AGgn0017518 (74%) |species == Zfish; gene == cask; score == 272; expect == 1.8e-74; MEOW:ZFgn0002612 (46%) |species == Weed; gene == At4g04720; score == 230; expect == 1.2e-60; MEOW:ATgn0020647 (42%) |species == Weed; gene == At5g12480; score == 228; expect == 6.5e-60; MEOW:ATgn0030170 (38%) |species == rice; score == 228; expect == 1.7e-59; MEOW:gnl|TIGR|8355.m03099 (41%) |species == Weed; gene == At1g50700; score == 226; expect == 2.2e-59; MEOW:ATgn0001889 (41%) |species == Weed; gene == At2g41860; score == 226; expect == 2.2e-59; MEOW:ATgn0007601 (43%) |species == Weed; gene == At3g20410; score == 226; expect == 2.2e-59; MEOW:ATgn0013110 (41%) |species == Weed; gene == At5g19450; score == 226; expect == 3.2e-59; MEOW:ATgn0025024 (38%) |species == Weed; gene == At1g61950; score == 221; expect == 1.1e-57; MEOW:ATgn0006446 (38%) |species == Weed; gene == At5g19360; score == 219; expect == 2.7e-57; MEOW:ATgn0025007 (39%) |species == Weed; gene == At5g12180; score == 218; expect == 6.6e-57; MEOW:ATgn0025325 (35%) |species == Weed; gene == At4g21940; score == 217; expect == 1.0e-56; MEOW:ATgn0020442 (40%) |species == rice; score == 216; expect == 1.9e-56; MEOW:gnl|TIGR|8358.m00621 (39%) |species == rice; score == 215; expect == 1.1e-55; MEOW:gnl|TIGR|8355.m03610 (43%) |species == rice; score == 214; expect == 2.5e-55; MEOW:gnl|TIGR|8360.m05158 (38%) |species == rice; score == 213; expect == 1.6e-55; MEOW:gnl|TIGR|8358.m00316 (35%) |species == rice; score == 213; expect == 1.7e-55; MEOW:gnl|TIGR|8359.m00296 (35%) |species == rice; score == 213; expect == 2.1e-55; MEOW:gnl|TIGR|8359.m00621 (39%) |species == rice; score == 211; expect == 9.0e-55; MEOW:gnl|TIGR|8360.m05164 (34%) |species == Weed; gene == At3g57530; score == 210; expect == 1.8e-54; MEOW:ATgn0017110 (39%) |species == rice; score == 210; expect == 2.8e-54; MEOW:gnl|TIGR|8355.m00566 (39%) |species == rice; score == 210; expect == 2.8e-54; MEOW:gnl|TIGR|8360.m05349 (40%) |species == Weed; gene == At2g17290; score == 209; expect == 2.4e-54; MEOW:ATgn0028316 (40%) |species == Weed; gene == At4g35310; score == 208; expect == 5.6e-54; MEOW:ATgn0019978 (39%) |species == rice; score == 208; expect == 5.5e-54; MEOW:gnl|TIGR|8351.m04368 (34%) |species == rice; score == 208; expect == 7.5e-54; MEOW:gnl|TIGR|8352.m04605 (35%) |species == Weed; gene == At5g04870; score == 207; expect == 1.4e-53; MEOW:ATgn0024791 (37%) |species == Weed; gene == At3g51850; score == 206; expect == 3.4e-53; MEOW:ATgn0011634 (35%) |species == Weed; gene == At3g10660; score == 206; expect == 3.3e-53; MEOW:ATgn0014989 (37%) |species == Yeast; gene == CMK2; score == 206; expect == 1.6e-53; MEOW:SGgn0005376 (40%) |species == rice; score == 206; expect == 2.3e-53; MEOW:gnl|TIGR|8350.m05773 (39%) |species == rice; score == 206; expect == 2.4e-53; MEOW:gnl|TIGR|8359.m02826 (33%) |species == Weed; gene == At4g38230; score == 205; expect == 4.0e-53; MEOW:ATgn0019494 (39%) |species == rice; score == 205; expect == 5.4e-53; MEOW:gnl|TIGR|8351.m05637 (36%) |species == Weed; gene == At1g35670; score == 204; expect == 7.0e-53; MEOW:ATgn0005346 (38%) |species == Weed; gene == At2g31500; score == 204; expect == 8.5e-53; MEOW:ATgn0008575 (41%) |species == Weed; gene == At4g09570; score == 204; expect == 1.2e-52; MEOW:ATgn0019898 (38%) |species == rice; score == 204; expect == 1.1e-52; MEOW:gnl|TIGR|8360.m00262 (39%) |species == Weed; gene == At1g12580; score == 203; expect == 2.8e-52; MEOW:ATgn0000928 (38%) |species == Weed; gene == At5g23580; score == 203; expect == 2.6e-52; MEOW:ATgn0022480 (36%) |species == Weed; gene == At1g74740; score == 202; expect == 5.1e-52; MEOW:ATgn0001020 (38%) |species == rice; score == 202; expect == 3.5e-52; MEOW:gnl|TIGR|8350.m05560 (35%) |species == rice; score == 202; expect == 3.8e-52; MEOW:gnl|TIGR|8362.m03181 (36%) |species == Weed; gene == At2g35890; score == 201; expect == 6.3e-52; MEOW:ATgn0007660 (32%) |species == rice; score == 201; expect == 8.2e-52; MEOW:gnl|TIGR|8350.m04003 (35%) |species == Weed; gene == At2g38910; score == 200; expect == 1.6e-51; MEOW:ATgn0009461 (37%) |species == rice; score == 200; expect == 1.4e-51; MEOW:gnl|TIGR|8352.m04386 (40%) |species == Weed; gene == At1g18890; score == 199; expect == 3.8e-51; MEOW:ATgn0000724 (38%) |species == Weed; gene == At4g04740; score == 199; expect == 3.1e-51; MEOW:ATgn0020651 (42%) |species == rice; score == 199; expect == 5.1e-51; MEOW:gnl|TIGR|8357.m02873 (37%) |species == rice; score == 198; expect == 1.5e-50; MEOW:gnl|TIGR|8354.m00262 (40%) |species == Weed; gene == At4g23650; score == 197; expect == 1.2e-50; MEOW:ATgn0018037 (38%) |species == rice; score == 197; expect == 1.5e-50; MEOW:gnl|TIGR|8353.m04539 (41%) |species == rice; score == 197; expect == 1.3e-50; MEOW:gnl|TIGR|8356.m04166 (35%) |species == Yeast; gene == CMK1; score == 191; expect == 2.9e-49; MEOW:SGgn0001910 (40%) |species == Worm; gene == ZC373.4; score == 187; expect == 1.0e-47; MEOW:CEgn0020612 (36%) |species == chimp; score == 186; expect == 4.6e-49; MEOW:sp|BAC81132|BAC81132 (32%) |species == Weed; gene == At4g04695; score == 184; expect == 1.1e-46; MEOW:ATgn0029966 (38%) |species == Worm; gene == C44C8.6a; score == 184; expect == 6.6e-47; MEOW:CEgn0027841 (38%) |species == Worm; gene == C44C8.6b; score == 184; expect == 6.6e-47; MEOW:CEgn0027842 (38%) |species == rice; score == 184; expect == 9.6e-47; MEOW:gnl|TIGR|8353.m03446 (39%) |species == rice; score == 184; expect == 7.3e-47; MEOW:gnl|TIGR|8359.m02840 (38%) |species == Yeast; gene == SNF1; score == 179; expect == 1.1e-45; MEOW:SGgn0002885 (40%) |species == Yeast; gene == DUN1; score == 178; expect == 1.9e-45; MEOW:SGgn0002259 (34%) |species == Worm; gene == C54G4.1; score == 176; expect == 2.4e-44; MEOW:CEgn0007120 (35%) |species == Yeast; gene == HSL1; score == 176; expect == 9.7e-45; MEOW:SGgn0001584 (35%) |species == Worm; gene == lin-2; score == 174; expect == 2.8e-43; MEOW:CEgn0001821 (32%) |species == Worm; gene == W03G1.6a; score == 174; expect == 5.3e-44; MEOW:CEgn0032600 (36%) |species == Worm; gene == W03G1.6b; score == 174; expect == 5.3e-44; MEOW:CEgn0032601 (36%) |species == Yeast; gene == RAD53; score == 172; expect == 1.4e-43; MEOW:SGgn0006074 (33%) |species == Worm; gene == F12F3.2a; score == 169; expect == 2.9e-42; MEOW:CEgn0031915 (35%) |species == Worm; gene == F12F3.2b; score == 169; expect == 2.9e-42; MEOW:CEgn0031916 (35%) |species == Worm; gene == R06A10.4; score == 167; expect == 1.1e-41; MEOW:CEgn0014485 (32%) |species == Yeast; gene == GIN4; score == 166; expect == 1.0e-41; MEOW:SGgn0002915 (38%) } # EOR GENR { RETE|ID 1 HUgn0000816 CHR 1 7 DID 1 LocusLink:816 MAP 1 22q12 NAM 1 calcium/calmodulin-dependent protein kinase (CaM kinase) II beta ORG 1 Homo sapiens SYM 1 CAMK2B ID|HUgn0000816 DID|LocusLink:816 ORG|Homo sapiens RSQ|REFSEQ:NM_001220 |REFSEQ:NM_172078 |REFSEQ:NM_172079 |REFSEQ:NM_172080 |REFSEQ:NM_172081 |REFSEQ:NM_172082 |REFSEQ:NM_172083 |REFSEQ:NM_172084 RPA|REFPROT:NP_001211 |REFPROT:NP_742075 |REFPROT:NP_742076 |REFPROT:NP_742077 |REFPROT:NP_742078 |REFPROT:NP_742079 |REFPROT:NP_742080 |REFPROT:NP_742081 DBA|XM:NM_001220 |XM:NM_172078 |XM:NM_172079 |XM:NM_172080 |XM:NM_172081 |XM:NM_172082 |XM:NM_172083 |XM:NM_172084 |XM:NM_001220 |XM:NM_172078 |XM:NM_172079 |XM:NM_172080 |XM:NM_172081 |XM:NM_172082 |XM:NM_172083 |XM:NM_172084 |NA:AF078803 |NA:AF081572 |NA:AF081924 |NA:AF083419 |NA:AF112471 |NA:AF112472 |NA:AF140350 |NA:AI190315 |NA:AJ252236 |NA:AJ252237 |NA:AJ252238 |NA:BC019070 |NA:U23460 |NA:U50358 |NA:none |NA:AK091991 PAC|XP:NP_001211 |XP:NP_742075 |XP:NP_742076 |XP:NP_742077 |XP:NP_742078 |XP:NP_742079 |XP:NP_742080 |XP:NP_742081 |XP:NP_001211 |XP:NP_742075 |XP:NP_742076 |XP:NP_742077 |XP:NP_742078 |XP:NP_742079 |XP:NP_742080 |XP:NP_742081 SYM|CAMK2B NAM|calcium/calmodulin-dependent protein kinase (CaM kinase) II beta SYN|CAM2 |CAMK2 |CAMKB |MGC29528 FNC|calcium/calmodulin-dependent protein kinase IIB isoform 1 |calcium/calmodulin-dependent protein kinase IIB isoform 2 |calcium/calmodulin-dependent protein kinase IIB isoform 3 |calcium/calmodulin-dependent protein kinase IIB isoform 4 |calcium/calmodulin-dependent protein kinase IIB isoform 5 |calcium/calmodulin-dependent protein kinase IIB isoform 6 |calcium/calmodulin-dependent protein kinase IIB isoform 7 |calcium/calmodulin-dependent protein kinase IIB isoform 8 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The product of this gene belongs to the serine/threonine protein kinase family and |to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is |crucial for several aspects of plasticity at glutamatergic synapses. In mammalian |cells, the enzyme is composed of four different chains: alpha, beta, gamma, and |delta. The product of this gene is a beta chain. It is possible that distinct isoforms |of this chain have different cellular localizations and interact differently with |calmodulin. Eight transcript variants encoding eight distinct isoforms have been |identified for this gene. CHR|7 PRD|CaMK-II beta subunit |CaM-kinase II beta chain |CaM kinase II beta subunit |proline rich calmodulin-dependent protein kinase |calcium/calmodulin-dependent protein kinase type II beta chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=321572 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=816[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250321 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001220 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001220 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=321572 DBL|UNIGENE:Hs.321572 |OMIM:607707 |SNP:816 ENZ|EC:2.7.1.123 |calcium/calmodulin-dependent protein kinase activity ; GO:0004685 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |calmodulin binding ; GO:0005516 |transferase activity ; GO:0016740 MAP|22q12 HG|species == rat; score == 788; expect == 0.0; MEOW:ref|NP_068507.1| (92%) |species == Mouse; gene == Camk2b; score == 783; expect == 0.0; MEOW:MGgn0001006 (91%) |species == rat; score == 659; expect == 0.0; MEOW:ref|NP_036651.1| (82%) |species == rat; score == 652; expect == 0.0; MEOW:ref|NP_598289.1| (81%) |species == Human; gene == CAMK2G; score == 634; expect == 0.0; MEOW:HUgn0000818 (78%) |species == Human; gene == CAMK2D; score == 612; expect == 1e-175; MEOW:HUgn0000817 (76%) |species == Human; gene == CAMK2A; score == 606; expect == 1e-173; MEOW:HUgn0000815 (76%) |species == Mosquito; gene == LOC17518; score == 564; expect == 3e-161; MEOW:AGgn0017518 (69%) |species == Fruitfly; gene == CaMKII; score == 563; expect == 5e-161; MEOW:FBgn0004624 (67%) |species == Zfish; gene == cask; score == 271; expect == 3.4e-74; MEOW:ZFgn0002612 (47%) |species == rice; score == 222; expect == 1.0e-57; MEOW:gnl|TIGR|8358.m00621 (40%) |species == Weed; gene == At2g41860; score == 221; expect == 1.3e-57; MEOW:ATgn0007601 (42%) |species == Weed; gene == At4g04720; score == 220; expect == 1.3e-57; MEOW:ATgn0020647 (35%) |species == rice; score == 220; expect == 1.9e-57; MEOW:gnl|TIGR|8360.m05164 (39%) |species == Weed; gene == At1g35670; score == 219; expect == 3.9e-57; MEOW:ATgn0005346 (40%) |species == Weed; gene == At4g38230; score == 219; expect == 3.5e-57; MEOW:ATgn0019494 (40%) |species == Weed; gene == At4g35310; score == 219; expect == 4.1e-57; MEOW:ATgn0019978 (39%) |species == Weed; gene == At1g50700; score == 218; expect == 6.5e-57; MEOW:ATgn0001889 (40%) |species == Weed; gene == At3g20410; score == 218; expect == 8.7e-57; MEOW:ATgn0013110 (40%) |species == Weed; gene == At2g17290; score == 218; expect == 1.1e-56; MEOW:ATgn0028316 (39%) |species == Weed; gene == At5g12480; score == 218; expect == 5.2e-57; MEOW:ATgn0030170 (40%) |species == rice; score == 218; expect == 1.5e-56; MEOW:gnl|TIGR|8359.m00621 (40%) |species == Weed; gene == At4g09570; score == 217; expect == 1.5e-56; MEOW:ATgn0019898 (40%) |species == Weed; gene == At5g19450; score == 216; expect == 1.9e-56; MEOW:ATgn0025024 (41%) |species == rice; score == 216; expect == 2.6e-56; MEOW:gnl|TIGR|8351.m04368 (38%) |species == rice; score == 216; expect == 7.3e-56; MEOW:gnl|TIGR|8355.m00566 (40%) |species == rice; score == 216; expect == 5.6e-56; MEOW:gnl|TIGR|8360.m05158 (39%) |species == rice; score == 215; expect == 1.2e-55; MEOW:gnl|TIGR|8355.m03099 (38%) |species == Weed; gene == At4g21940; score == 214; expect == 1.3e-55; MEOW:ATgn0020442 (35%) |species == Weed; gene == At5g12180; score == 214; expect == 1.2e-55; MEOW:ATgn0025325 (37%) |species == rice; score == 214; expect == 2.1e-55; MEOW:gnl|TIGR|8360.m00262 (38%) |species == Weed; gene == At5g19360; score == 212; expect == 4.7e-55; MEOW:ATgn0025007 (37%) |species == rice; score == 212; expect == 1.4e-54; MEOW:gnl|TIGR|8352.m04605 (39%) |species == rice; score == 212; expect == 1.1e-54; MEOW:gnl|TIGR|8355.m03610 (42%) |species == rice; score == 209; expect == 2.2e-54; MEOW:gnl|TIGR|8351.m05637 (38%) |species == Weed; gene == At1g61950; score == 208; expect == 7.2e-54; MEOW:ATgn0006446 (36%) |species == Weed; gene == At3g51850; score == 208; expect == 8.9e-54; MEOW:ATgn0011634 (39%) |species == rice; score == 208; expect == 9.1e-54; MEOW:gnl|TIGR|8362.m03181 (39%) |species == Weed; gene == At3g10660; score == 206; expect == 3.3e-53; MEOW:ATgn0014989 (37%) |species == Weed; gene == At5g04870; score == 206; expect == 2.4e-53; MEOW:ATgn0024791 (37%) |species == rice; score == 206; expect == 3.9e-53; MEOW:gnl|TIGR|8350.m05773 (39%) |species == rice; score == 205; expect == 6.9e-53; MEOW:gnl|TIGR|8359.m02826 (37%) |species == rice; score == 204; expect == 9.7e-53; MEOW:gnl|TIGR|8358.m00316 (37%) |species == rice; score == 204; expect == 1.0e-52; MEOW:gnl|TIGR|8359.m00296 (37%) |species == Weed; gene == At3g57530; score == 203; expect == 2.9e-52; MEOW:ATgn0017110 (41%) |species == Yeast; gene == CMK2; score == 202; expect == 1.8e-52; MEOW:SGgn0005376 (39%) |species == Weed; gene == At2g38910; score == 201; expect == 7.2e-52; MEOW:ATgn0009461 (37%) |species == Weed; gene == At1g12580; score == 200; expect == 1.4e-51; MEOW:ATgn0000928 (36%) |species == Weed; gene == At2g31500; score == 200; expect == 1.6e-51; MEOW:ATgn0008575 (40%) |species == Weed; gene == At1g74740; score == 199; expect == 2.5e-51; MEOW:ATgn0001020 (37%) |species == Weed; gene == At5g23580; score == 199; expect == 2.9e-51; MEOW:ATgn0022480 (40%) |species == rice; score == 199; expect == 5.3e-51; MEOW:gnl|TIGR|8354.m00262 (41%) |species == Weed; gene == At1g18890; score == 196; expect == 2.5e-50; MEOW:ATgn0000724 (38%) |species == rice; score == 195; expect == 5.9e-50; MEOW:gnl|TIGR|8350.m04003 (37%) |species == rice; score == 195; expect == 7.3e-50; MEOW:gnl|TIGR|8357.m02873 (36%) |species == rice; score == 194; expect == 9.6e-50; MEOW:gnl|TIGR|8350.m05560 (37%) |species == rice; score == 194; expect == 1.3e-49; MEOW:gnl|TIGR|8353.m04539 (38%) |species == Weed; gene == At2g35890; score == 193; expect == 2.9e-49; MEOW:ATgn0007660 (36%) |species == rice; score == 192; expect == 3.9e-49; MEOW:gnl|TIGR|8352.m04386 (38%) |species == rice; score == 192; expect == 4.3e-49; MEOW:gnl|TIGR|8356.m04166 (35%) |species == Weed; gene == At4g23650; score == 191; expect == 1.1e-48; MEOW:ATgn0018037 (37%) |species == Weed; gene == At4g04740; score == 191; expect == 1.1e-48; MEOW:ATgn0020651 (40%) |species == rice; score == 187; expect == 1.9e-47; MEOW:gnl|TIGR|8353.m03446 (37%) |species == Yeast; gene == CMK1; score == 183; expect == 6.6e-47; MEOW:SGgn0001910 (36%) |species == rice; score == 183; expect == 2.1e-46; MEOW:gnl|TIGR|8359.m02840 (38%) |species == chimp; score == 183; expect == 5.5e-48; MEOW:sp|BAC81132|BAC81132 (32%) |species == Weed; gene == At1g12680; score == 182; expect == 4.6e-46; MEOW:ATgn0000965 (38%) |species == rice; score == 182; expect == 5.4e-46; MEOW:gnl|TIGR|8360.m05349 (42%) |species == Yeast; gene == SNF1; score == 181; expect == 3.3e-46; MEOW:SGgn0002885 (40%) |species == rice; score == 178; expect == 8.4e-45; MEOW:gnl|TIGR|8360.m02259 (38%) |species == Weed; gene == At4g04695; score == 177; expect == 1.7e-44; MEOW:ATgn0029966 (38%) |species == Worm; gene == ZC373.4; score == 176; expect == 2.0e-44; MEOW:CEgn0020612 (34%) |species == Worm; gene == C44C8.6a; score == 175; expect == 5.8e-44; MEOW:CEgn0027841 (38%) |species == Worm; gene == C44C8.6b; score == 175; expect == 5.8e-44; MEOW:CEgn0027842 (38%) |species == Yeast; gene == DUN1; score == 173; expect == 8.9e-44; MEOW:SGgn0002259 (33%) |species == Worm; gene == lin-2; score == 172; expect == 8.3e-43; MEOW:CEgn0001821 (27%) |species == Worm; gene == T01C8.1a; score == 170; expect == 1.4e-42; MEOW:CEgn0029624 (39%) |species == Worm; gene == T01C8.1b; score == 170; expect == 1.4e-42; MEOW:CEgn0029625 (39%) |species == Worm; gene == T01C8.1c; score == 170; expect == 1.4e-42; MEOW:CEgn0032427 (39%) |species == Worm; gene == Y50D7A.3a; score == 170; expect == 1.4e-42; MEOW:CEgn0032758 (33%) |species == Yeast; gene == HSL1; score == 169; expect == 9.9e-43; MEOW:SGgn0001584 (34%) |species == Worm; gene == W03G1.6a; score == 167; expect == 1.2e-41; MEOW:CEgn0032600 (35%) |species == Worm; gene == W03G1.6b; score == 167; expect == 1.2e-41; MEOW:CEgn0032601 (35%) |species == Yeast; gene == RAD53; score == 166; expect == 1.1e-41; MEOW:SGgn0006074 (34%) |species == Worm; gene == T08D2.7; score == 141; expect == 8.9e-34; MEOW:CEgn0015809 (34%) } # EOR GENR { RETE|ID 1 HUgn0000817 CHR 1 4 DID 1 LocusLink:817 MAP 1 4q26 NAM 1 calcium/calmodulin-dependent protein kinase (CaM kinase) II delta ORG 1 Homo sapiens SYM 1 CAMK2D ID|HUgn0000817 DID|LocusLink:817 ORG|Homo sapiens RSQ|REFSEQ:NM_001221 |REFSEQ:NM_172115 |REFSEQ:NM_172127 |REFSEQ:NM_172128 RPA|REFPROT:NP_001212 |REFPROT:NP_742113 |REFPROT:NP_742125 |REFPROT:NP_742126 DBA|XM:NM_001221 |XM:NM_172115 |XM:NM_172127 |XM:NM_172128 |NA:AF071569 |NA:AI004608 |NA:AJ252239 |NA:AK025368 |NA:AK055642 |NA:AL120285 |NA:BC022558 |NA:BC032784 |NA:CA416772 |NA:U50361 |NA:U73738 |NA:none PAC|XP:NP_001212 |XP:NP_742113 |XP:NP_742125 |XP:NP_742126 SYM|CAMK2D NAM|calcium/calmodulin-dependent protein kinase (CaM kinase) II delta SYN|CAMKD |MGC44911 FNC|calcium/calmodulin-dependent protein kinase II delta isoform 1 |calcium/calmodulin-dependent protein kinase II delta isoform 2 |calcium/calmodulin-dependent protein kinase II delta isoform 3 REAB|The product of this gene belongs to the serine/threonine protein kinase family and |to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is |crucial for several aspects of plasticity at glutamatergic synapses. In mammalian |cells, the enzyme is composed of four different chains: alpha, beta, gamma, and |delta. The product of this gene is a delta chain. Four alternatively spliced transcript |variants that encode three different isoforms have been characterized to date. Distinct |isoforms of this chain have different expression patterns. CHR|4 PRD|CaMK-II delta subunit |CaM-kinase II delta chain |CaM kinase II delta subunit |calcium/calmodulin-dependent protein kinase type II delta chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=111460 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=817[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250324 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172127 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172127 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=111460 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA92 DBL|UNIGENE:Hs.111460 |OMIM:607708 |SNP:817 ENZ|EC:2.7.1.123 MAP|4q26 HG|species == rat; score == 1003; expect == 0.0; MEOW:ref|NP_036651.1| (92%) |species == Mouse; gene == Camk2d; score == 976; expect == 0.0; MEOW:MGgn0001007 (100%) |species == Human; gene == CAMK2G; score == 870; expect == 0.0; MEOW:HUgn0000818 (85%) |species == rat; score == 865; expect == 0.0; MEOW:ref|NP_037052.1| (87%) |species == Human; gene == CAMK2A; score == 857; expect == 0.0; MEOW:HUgn0000815 (85%) |species == rat; score == 854; expect == 0.0; MEOW:ref|NP_598289.1| (79%) |species == rat; score == 851; expect == 0.0; MEOW:ref|NP_068507.1| (77%) |species == Mouse; gene == Camk2b; score == 849; expect == 0.0; MEOW:MGgn0001006 (77%) |species == Mosquito; gene == LOC17518; score == 807; expect == 0.0; MEOW:AGgn0017518 (80%) |species == Fruitfly; gene == CaMKII; score == 794; expect == 0.0; MEOW:FBgn0004624 (76%) |species == Zfish; gene == cask; score == 282; expect == 2.3e-77; MEOW:ZFgn0002612 (48%) |species == Weed; gene == At2g41860; score == 235; expect == 4.9e-62; MEOW:ATgn0007601 (39%) |species == Weed; gene == At1g50700; score == 231; expect == 9.2e-61; MEOW:ATgn0001889 (37%) |species == Weed; gene == At4g04720; score == 231; expect == 7.1e-61; MEOW:ATgn0020647 (36%) |species == Weed; gene == At3g20410; score == 228; expect == 4.6e-60; MEOW:ATgn0013110 (37%) |species == Weed; gene == At5g12480; score == 228; expect == 6.0e-60; MEOW:ATgn0030170 (39%) |species == rice; score == 228; expect == 1.0e-59; MEOW:gnl|TIGR|8355.m03099 (38%) |species == rice; score == 228; expect == 1.0e-59; MEOW:gnl|TIGR|8358.m00621 (38%) |species == Weed; gene == At5g19450; score == 227; expect == 1.3e-59; MEOW:ATgn0025024 (40%) |species == rice; score == 226; expect == 2.4e-59; MEOW:gnl|TIGR|8359.m00621 (38%) |species == Weed; gene == At1g35670; score == 224; expect == 6.6e-59; MEOW:ATgn0005346 (39%) |species == Weed; gene == At4g09570; score == 223; expect == 1.5e-58; MEOW:ATgn0019898 (39%) |species == rice; score == 223; expect == 5.5e-58; MEOW:gnl|TIGR|8355.m03610 (40%) |species == Weed; gene == At4g04740; score == 221; expect == 7.3e-58; MEOW:ATgn0020651 (35%) |species == Weed; gene == At5g19360; score == 221; expect == 7.3e-58; MEOW:ATgn0025007 (35%) |species == Weed; gene == At5g12180; score == 221; expect == 1.0e-57; MEOW:ATgn0025325 (35%) |species == Weed; gene == At4g21940; score == 219; expect == 4.1e-57; MEOW:ATgn0020442 (36%) |species == Weed; gene == At1g61950; score == 218; expect == 6.9e-57; MEOW:ATgn0006446 (32%) |species == rice; score == 218; expect == 1.8e-56; MEOW:gnl|TIGR|8360.m05164 (36%) |species == Weed; gene == At4g38230; score == 217; expect == 1.3e-56; MEOW:ATgn0019494 (36%) |species == Weed; gene == At2g17290; score == 217; expect == 1.2e-56; MEOW:ATgn0028316 (37%) |species == rice; score == 217; expect == 3.0e-56; MEOW:gnl|TIGR|8355.m00566 (37%) |species == Weed; gene == At4g35310; score == 216; expect == 2.7e-56; MEOW:ATgn0019978 (40%) |species == rice; score == 216; expect == 2.6e-56; MEOW:gnl|TIGR|8351.m04368 (34%) |species == rice; score == 216; expect == 4.0e-56; MEOW:gnl|TIGR|8360.m05158 (36%) |species == rice; score == 216; expect == 6.8e-56; MEOW:gnl|TIGR|8360.m05349 (38%) |species == rice; score == 214; expect == 1.2e-55; MEOW:gnl|TIGR|8358.m00316 (35%) |species == rice; score == 214; expect == 1.3e-55; MEOW:gnl|TIGR|8359.m00296 (35%) |species == rice; score == 213; expect == 1.9e-55; MEOW:gnl|TIGR|8350.m05773 (38%) |species == rice; score == 213; expect == 1.8e-55; MEOW:gnl|TIGR|8352.m04605 (35%) |species == Weed; gene == At3g57530; score == 211; expect == 6.3e-55; MEOW:ATgn0017110 (42%) |species == Yeast; gene == CMK2; score == 211; expect == 2.1e-55; MEOW:SGgn0005376 (40%) |species == Weed; gene == At3g51850; score == 210; expect == 1.8e-54; MEOW:ATgn0011634 (34%) |species == rice; score == 210; expect == 1.8e-54; MEOW:gnl|TIGR|8362.m03181 (40%) |species == Weed; gene == At1g74740; score == 209; expect == 4.1e-54; MEOW:ATgn0001020 (38%) |species == Weed; gene == At3g10660; score == 209; expect == 3.9e-54; MEOW:ATgn0014989 (35%) |species == rice; score == 209; expect == 4.8e-54; MEOW:gnl|TIGR|8359.m02826 (35%) |species == Weed; gene == At5g23580; score == 208; expect == 6.3e-54; MEOW:ATgn0022480 (36%) |species == rice; score == 208; expect == 4.9e-54; MEOW:gnl|TIGR|8350.m05560 (36%) |species == rice; score == 208; expect == 4.9e-54; MEOW:gnl|TIGR|8351.m05637 (36%) |species == rice; score == 208; expect == 7.5e-54; MEOW:gnl|TIGR|8360.m00262 (37%) |species == Weed; gene == At5g04870; score == 207; expect == 1.8e-53; MEOW:ATgn0024791 (35%) |species == Weed; gene == At2g31500; score == 206; expect == 2.2e-53; MEOW:ATgn0008575 (41%) |species == Weed; gene == At1g12580; score == 205; expect == 5.7e-53; MEOW:ATgn0000928 (39%) |species == Weed; gene == At1g18890; score == 204; expect == 1.2e-52; MEOW:ATgn0000724 (37%) |species == Weed; gene == At2g38910; score == 204; expect == 8.5e-53; MEOW:ATgn0009461 (34%) |species == rice; score == 203; expect == 4.8e-52; MEOW:gnl|TIGR|8354.m00262 (43%) |species == rice; score == 202; expect == 6.0e-52; MEOW:gnl|TIGR|8357.m02873 (37%) |species == Weed; gene == At2g35890; score == 201; expect == 8.2e-52; MEOW:ATgn0007660 (33%) |species == rice; score == 201; expect == 1.2e-51; MEOW:gnl|TIGR|8356.m04166 (36%) |species == rice; score == 199; expect == 3.1e-51; MEOW:gnl|TIGR|8350.m04003 (38%) |species == rice; score == 199; expect == 2.5e-51; MEOW:gnl|TIGR|8352.m04386 (36%) |species == rice; score == 199; expect == 5.1e-51; MEOW:gnl|TIGR|8353.m04539 (35%) |species == Weed; gene == At4g23650; score == 198; expect == 7.1e-51; MEOW:ATgn0018037 (36%) |species == Yeast; gene == CMK1; score == 194; expect == 3.5e-50; MEOW:SGgn0001910 (33%) |species == chimp; score == 191; expect == 1.5e-50; MEOW:sp|BAC81132|BAC81132 (32%) |species == rice; score == 185; expect == 5.7e-47; MEOW:gnl|TIGR|8353.m03446 (37%) |species == rice; score == 184; expect == 5.6e-47; MEOW:gnl|TIGR|8359.m02840 (38%) |species == Worm; gene == ZC373.4; score == 183; expect == 1.2e-46; MEOW:CEgn0020612 (35%) |species == rice; score == 183; expect == 2.0e-46; MEOW:gnl|TIGR|8360.m02259 (39%) |species == Yeast; gene == SNF1; score == 181; expect == 2.4e-46; MEOW:SGgn0002885 (41%) |species == Yeast; gene == DUN1; score == 180; expect == 4.0e-46; MEOW:SGgn0002259 (35%) |species == Worm; gene == lin-2; score == 179; expect == 2.9e-45; MEOW:CEgn0001821 (31%) |species == Yeast; gene == HSL1; score == 178; expect == 2.0e-45; MEOW:SGgn0001584 (36%) |species == Worm; gene == C44C8.6a; score == 174; expect == 9.2e-44; MEOW:CEgn0027841 (39%) |species == Worm; gene == C44C8.6b; score == 174; expect == 9.2e-44; MEOW:CEgn0027842 (39%) |species == Worm; gene == Y50D7A.3a; score == 173; expect == 1.2e-43; MEOW:CEgn0032758 (34%) |species == Worm; gene == F12F3.2a; score == 172; expect == 2.0e-43; MEOW:CEgn0031915 (36%) |species == Worm; gene == F12F3.2b; score == 172; expect == 2.0e-43; MEOW:CEgn0031916 (36%) |species == Yeast; gene == RAD53; score == 171; expect == 1.9e-43; MEOW:SGgn0006074 (35%) |species == Worm; gene == T01C8.1a; score == 170; expect == 1.0e-42; MEOW:CEgn0029624 (39%) |species == Worm; gene == T01C8.1b; score == 170; expect == 1.0e-42; MEOW:CEgn0029625 (39%) |species == Worm; gene == T01C8.1c; score == 170; expect == 1.0e-42; MEOW:CEgn0032427 (39%) } # EOR GENR { RETE|ID 1 HUgn0000818 CHR 1 10 DID 1 LocusLink:818 MAP 1 10q22 NAM 1 calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma ORG 1 Homo sapiens SYM 1 CAMK2G ID|HUgn0000818 DID|LocusLink:818 ORG|Homo sapiens RSQ|REFSEQ:NM_001222 |REFSEQ:NM_172169 |REFSEQ:NM_172170 |REFSEQ:NM_172171 |REFSEQ:NM_172172 |REFSEQ:NM_172173 RPA|REFPROT:NP_001213 |REFPROT:NP_751909 |REFPROT:NP_751910 |REFPROT:NP_751911 |REFPROT:NP_751912 |REFPROT:NP_751913 DBA|XM:NM_001222 |XM:NM_172169 |XM:NM_172170 |XM:NM_172171 |XM:NM_172172 |XM:NM_172173 |NA:AF415177 |NA:AK026309 |NA:AK094774 |NA:AK095576 |NA:BC012795 |NA:BC021269 |NA:BC034044 |NA:BC037928 |NA:L07043 |NA:L07044 |NA:U32472 |NA:U32473 |NA:U32509 |NA:U50359 |NA:U50360 |NA:U66063 |NA:U66064 |NA:none PAC|XP:NP_001213 |XP:NP_751909 |XP:NP_751910 |XP:NP_751911 |XP:NP_751912 |XP:NP_751913 SYM|CAMK2G NAM|calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma SYN|CAMK |CAMKG |CAMK-II |MGC26678 FNC|calcium/calmodulin-dependent protein kinase II gamma isoform 1 |calcium/calmodulin-dependent protein kinase II gamma isoform 2 |calcium/calmodulin-dependent protein kinase II gamma isoform 3 |calcium/calmodulin-dependent protein kinase II gamma isoform 4 |calcium/calmodulin-dependent protein kinase II gamma isoform 5 |calcium/calmodulin-dependent protein kinase II gamma isoform 6 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The product of this gene belongs to the Serine/Threonine protein kinase family, and |to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is |crucial for several aspects of plasticity at glutamatergic synapses. In mammalian |cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. |The product of this gene is a gamma chain. Six alternatively spliced variants that |encode six different isoforms have been characterized to date. Additional alternative |splice variants that encode different isoforms have been described, but their full-length |nature has not been determined. CHR|10 PRD|CaM kinase II URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12436 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=818[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138469 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172171 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172171 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=12436 DBL|UNIGENE:Hs.12436 |OMIM:602123 |SNP:818 ENZ|EC:2.7.1.123 |calcium/calmodulin-dependent protein kinase activity ; GO:0004685 |signal transducer activity ; GO:0004871 MAP|10q22 HG|species == rat; score == 995; expect == 0.0; MEOW:ref|NP_598289.1| (93%) |species == rat; score == 896; expect == 0.0; MEOW:ref|NP_068507.1| (82%) |species == Mouse; gene == Camk2b; score == 894; expect == 0.0; MEOW:MGgn0001006 (81%) |species == rat; score == 877; expect == 0.0; MEOW:ref|NP_036651.1| (83%) |species == Human; gene == CAMK2D; score == 870; expect == 0.0; MEOW:HUgn0000817 (85%) |species == Mouse; gene == Camk2d; score == 870; expect == 0.0; MEOW:MGgn0001007 (85%) |species == Human; gene == CAMK2A; score == 834; expect == 0.0; MEOW:HUgn0000815 (82%) |species == rat; score == 830; expect == 0.0; MEOW:ref|NP_037052.1| (81%) |species == Mosquito; gene == LOC17518; score == 781; expect == 0.0; MEOW:AGgn0017518 (77%) |species == Fruitfly; gene == CaMKII; score == 770; expect == 0.0; MEOW:FBgn0004624 (73%) |species == Zfish; gene == cask; score == 271; expect == 1.2e-72; MEOW:ZFgn0002612 (46%) |species == Weed; gene == At2g41860; score == 216; expect == 2.3e-56; MEOW:ATgn0007601 (42%) |species == rice; score == 216; expect == 2.4e-56; MEOW:gnl|TIGR|8358.m00621 (35%) |species == rice; score == 214; expect == 2.5e-55; MEOW:gnl|TIGR|8355.m03610 (42%) |species == Weed; gene == At1g50700; score == 213; expect == 1.5e-55; MEOW:ATgn0001889 (39%) |species == Weed; gene == At5g12480; score == 213; expect == 1.5e-55; MEOW:ATgn0030170 (39%) |species == Weed; gene == At4g09570; score == 212; expect == 4.4e-55; MEOW:ATgn0019898 (37%) |species == Weed; gene == At1g35670; score == 211; expect == 7.5e-55; MEOW:ATgn0005346 (37%) |species == Weed; gene == At5g19450; score == 211; expect == 5.8e-55; MEOW:ATgn0025024 (41%) |species == Weed; gene == At2g31500; score == 210; expect == 1.7e-54; MEOW:ATgn0008575 (41%) |species == Weed; gene == At4g04720; score == 210; expect == 1.3e-54; MEOW:ATgn0020647 (38%) |species == rice; score == 210; expect == 1.8e-54; MEOW:gnl|TIGR|8359.m00621 (37%) |species == Weed; gene == At3g20410; score == 209; expect == 2.2e-54; MEOW:ATgn0013110 (39%) |species == rice; score == 209; expect == 4.1e-54; MEOW:gnl|TIGR|8355.m03099 (37%) |species == Weed; gene == At3g51850; score == 208; expect == 6.4e-54; MEOW:ATgn0011634 (37%) |species == Yeast; gene == CMK2; score == 208; expect == 2.3e-54; MEOW:SGgn0005376 (33%) |species == Weed; gene == At3g57530; score == 206; expect == 2.7e-53; MEOW:ATgn0017110 (41%) |species == Weed; gene == At5g19360; score == 206; expect == 3.4e-53; MEOW:ATgn0025007 (37%) |species == rice; score == 205; expect == 1.2e-52; MEOW:gnl|TIGR|8360.m05349 (38%) |species == Weed; gene == At5g12180; score == 204; expect == 9.9e-53; MEOW:ATgn0025325 (36%) |species == rice; score == 204; expect == 1.5e-52; MEOW:gnl|TIGR|8350.m05773 (42%) |species == rice; score == 204; expect == 2.0e-52; MEOW:gnl|TIGR|8355.m00566 (37%) |species == rice; score == 203; expect == 1.9e-52; MEOW:gnl|TIGR|8360.m05164 (36%) |species == Weed; gene == At4g38230; score == 202; expect == 4.4e-52; MEOW:ATgn0019494 (36%) |species == Weed; gene == At4g21940; score == 202; expect == 4.0e-52; MEOW:ATgn0020442 (36%) |species == rice; score == 202; expect == 7.7e-52; MEOW:gnl|TIGR|8360.m05158 (36%) |species == Weed; gene == At1g61950; score == 201; expect == 6.7e-52; MEOW:ATgn0006446 (36%) |species == Weed; gene == At4g35310; score == 201; expect == 1.2e-51; MEOW:ATgn0019978 (37%) |species == Weed; gene == At1g74740; score == 200; expect == 1.9e-51; MEOW:ATgn0001020 (37%) |species == Weed; gene == At1g12580; score == 199; expect == 3.1e-51; MEOW:ATgn0000928 (36%) |species == rice; score == 199; expect == 4.1e-51; MEOW:gnl|TIGR|8358.m00316 (37%) |species == rice; score == 199; expect == 4.3e-51; MEOW:gnl|TIGR|8359.m00296 (37%) |species == Weed; gene == At1g18890; score == 198; expect == 8.5e-51; MEOW:ATgn0000724 (35%) |species == Weed; gene == At2g17290; score == 197; expect == 1.3e-50; MEOW:ATgn0028316 (36%) |species == rice; score == 195; expect == 4.8e-50; MEOW:gnl|TIGR|8351.m04368 (34%) |species == rice; score == 194; expect == 7.3e-50; MEOW:gnl|TIGR|8351.m05637 (36%) |species == rice; score == 194; expect == 1.1e-49; MEOW:gnl|TIGR|8352.m04605 (33%) |species == rice; score == 194; expect == 1.4e-49; MEOW:gnl|TIGR|8362.m03181 (37%) |species == Weed; gene == At5g23580; score == 191; expect == 6.1e-49; MEOW:ATgn0022480 (37%) |species == rice; score == 191; expect == 1.9e-48; MEOW:gnl|TIGR|8354.m00262 (42%) |species == chimp; score == 186; expect == 6.1e-49; MEOW:sp|BAC81132|BAC81132 (33%) |species == Yeast; gene == CMK1; score == 184; expect == 2.1e-47; MEOW:SGgn0001910 (30%) |species == rice; score == 184; expect == 9.6e-47; MEOW:gnl|TIGR|8353.m03446 (38%) |species == rice; score == 184; expect == 9.0e-47; MEOW:gnl|TIGR|8356.m04166 (34%) |species == rice; score == 183; expect == 2.2e-46; MEOW:gnl|TIGR|8357.m02873 (35%) |species == Yeast; gene == DUN1; score == 181; expect == 2.3e-46; MEOW:SGgn0002259 (35%) |species == Worm; gene == ZC373.4; score == 180; expect == 1.3e-45; MEOW:CEgn0020612 (32%) |species == Weed; gene == At1g12680; score == 179; expect == 2.3e-45; MEOW:ATgn0000965 (36%) |species == Worm; gene == Y50D7A.3a; score == 178; expect == 3.7e-45; MEOW:CEgn0032758 (34%) |species == Worm; gene == C44C8.6a; score == 176; expect == 1.4e-44; MEOW:CEgn0027841 (39%) |species == Worm; gene == C44C8.6b; score == 176; expect == 1.4e-44; MEOW:CEgn0027842 (39%) |species == Yeast; gene == SNF1; score == 176; expect == 7.5e-45; MEOW:SGgn0002885 (39%) |species == Weed; gene == At4g04695; score == 174; expect == 1.4e-43; MEOW:ATgn0029966 (37%) |species == Worm; gene == lin-2; score == 172; expect == 3.5e-43; MEOW:CEgn0001821 (32%) |species == Worm; gene == T01H8.1b; score == 172; expect == 2.0e-43; MEOW:CEgn0015173 (31%) |species == Worm; gene == T01C8.1a; score == 171; expect == 5.9e-43; MEOW:CEgn0029624 (39%) |species == Worm; gene == T01C8.1b; score == 171; expect == 5.9e-43; MEOW:CEgn0029625 (39%) |species == Worm; gene == T01C8.1c; score == 171; expect == 5.9e-43; MEOW:CEgn0032427 (39%) |species == Worm; gene == F12F3.2b; score == 170; expect == 1.0e-42; MEOW:CEgn0031916 (35%) } # EOR GENR { RETE|ID 1 HUgn0000819 CHR 1 5 DID 1 LocusLink:819 MAP 1 5q23 NAM 1 calcium modulating ligand ORG 1 Homo sapiens SYM 1 CAMLG ID|HUgn0000819 DID|LocusLink:819 ORG|Homo sapiens RSQ|REFSEQ:NM_001745 RPA|REFPROT:NP_001736 DBA|XM:NM_001745 |NA:AF068179 |NA:BG720084 |NA:U18242 |NA:none PAC|XP:NP_001736 SYM|CAMLG NAM|calcium modulating ligand SYN|CAML FNC|calcium modulating ligand |defense response ; GO:0006952 |signal transduction ; GO:0007165 REAB|The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the |T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin |B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. |The protein encoded by this gene functions similarly to cyclosporin A, binding to |cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing |an influx of calcium. This integral membrane protein appears to be a new participant |in the calcium signal transduction pathway, implicating cyclophilin B in calcium |signaling, even in the absence of cyclosporin. CHR|5 PRD|cyclophilin B-binding protein |calcium-modulating cyclophilin ligand |calcium-signal modulating cyclophilin ligand URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13572 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=819[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:277883 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001745 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001745 DBL|UNIGENE:Hs.13572 |OMIM:601118 |SNP:819 MAP|5q23 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Caml; score == 515; expect == 8e-147; MEOW:MGgn0001011 (88%) |species == rat; score == 489; expect == 7e-139; MEOW:ref|NP_445786.1| (85%) } # EOR GENR { RETE|ID 1 HUgn0000820 CHR 1 3 DID 1 LocusLink:820 MAP 1 3p21.3 NAM 1 cathelicidin antimicrobial peptide ORG 1 Homo sapiens SYM 1 CAMP ID|HUgn0000820 DID|LocusLink:820 ORG|Homo sapiens RSQ|REFSEQ:NM_004345 RPA|REFPROT:NP_004336 DBA|XM:NM_004345 |NA:U48795 |NA:X96735 |NA:BC055089 |NA:U19970 |NA:X89658 |NA:Z38026 |NA:none PAC|XP:NP_004336 SYM|CAMP NAM|cathelicidin antimicrobial peptide SYN|LL37 |CAP18 |FALL39 |FALL-39 FNC|cathelicidin antimicrobial peptide |xenobiotic metabolism ; GO:0006805 |defense response ; GO:0006952 REAB|Cathelicidin antimicrobial protein is an antimicrobial protein found in specific granules of polymorphonuclear leukocytes (PMNs).[supplied by OMIM] CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=51120 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=820[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1327233 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004345 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004345 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=51120 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26054 DBL|UNIGENE:Hs.51120 |OMIM:600474 |SNP:820 MAP|3p21.3 ENZ|antibacterial peptide activity ; GO:0003797 CEL|extracellular ; GO:0005576 HG|species == rat; score == 167; expect == 3.4e-42; MEOW:ref|XP_236642.1| (56%) |species == Mouse; gene == Camp; score == 159; expect == 6.1e-40; MEOW:MGgn0001502 (54%) } # EOR GENR { RETE|ID 1 HUgn0000821 CHR 1 5 DID 1 LocusLink:821 MAP 1 5q35 NAM 1 calnexin ORG 1 Homo sapiens SYM 1 CANX ID|HUgn0000821 DID|LocusLink:821 ORG|Homo sapiens RSQ|REFSEQ:NM_001746 RPA|REFPROT:NP_001737 DBA|XM:NM_001746 |NA:AJ271880 |NA:AK129990 |NA:BC003552 |NA:BC042843 |NA:BC050534 |NA:L10284 |NA:L18887 |NA:M94859 |NA:M98452 |NA:none PAC|XP:NP_001737 SYM|CANX NAM|calnexin SYN|CNX FNC|calnexin |protein secretion ; GO:0009306 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155560 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=821[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141878 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001746 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001746 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155560 DBL|UNIGENE:Hs.155560 |OMIM:114217 |SNP:821 MAP|5q35 ENZ|calcium ion storage activity ; GO:0005514 |chaperone activity ; GO:0003754 CEL|endoplasmic reticulum membrane ; GO:0005789 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1043; expect == 0.0; MEOW:ref|NP_742005.1| (91%) |species == Mouse; gene == Canx; score == 1033; expect == 0.0; MEOW:MGgn0001013 (91%) |species == Human; gene == CLGN; score == 672; expect == 0.0; MEOW:HUgn0001047 (60%) |species == Mosquito; gene == LOC21843; score == 525; expect == 2e-149; MEOW:AGgn0021843 (58%) |species == Fruitfly; gene == CG9906; score == 503; expect == 2e-142; MEOW:FBgn0030755 (56%) |species == Mosquito; gene == LOC24049; score == 475; expect == 2e-134; MEOW:AGgn0024049 (58%) |species == Worm; gene == cnx-1; score == 448; expect == 6e-126; MEOW:CEgn0000239 (47%) |species == Fruitfly; gene == CG1924; score == 445; expect == 2e-125; MEOW:FBgn0030377 (48%) |species == rice; score == 384; expect == 1e-106; MEOW:gnl|TIGR|8352.m03058 (50%) |species == Weed; gene == CNX1; score == 382; expect == 2e-106; MEOW:ATgn0021725 (45%) |species == Weed; gene == At5g07340; score == 372; expect == 4e-103; MEOW:ATgn0021306 (49%) |species == Zfish; gene == calr; score == 224; expect == 4.1e-60; MEOW:ZFgn0000696 (38%) |species == Yeast; gene == CNE1; score == 204; expect == 9.3e-53; MEOW:SGgn0000054 (32%) } # EOR GENR { RETE|ID 1 HUgn0000822 CHR 1 2 DID 1 LocusLink:822 MAP 1 2cen-q24 NAM 1 capping protein (actin filament), gelsolin-like ORG 1 Homo sapiens SYM 1 CAPG ID|HUgn0000822 DID|LocusLink:822 ORG|Homo sapiens RSQ|REFSEQ:NM_001747 RPA|REFPROT:NP_001738 DBA|XM:NM_001747 |NA:AK130130 |NA:BC000728 |NA:BC014549 |NA:M94345 |NA:none PAC|XP:NP_001738 SYM|CAPG NAM|capping protein (actin filament), gelsolin-like SYN|MCP |AFCP FNC|capping protein (actin filament), gelsolin-like |response to pest/pathogen/parasite ; GO:0009613 |protein complex assembly ; GO:0006461 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82422 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=822[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134818 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001747 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001747 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82422 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26056 DBL|UNIGENE:Hs.82422 |OMIM:153615 |SNP:822 MAP|2cen-q24 ENZ|barbed-end actin capping activity ; GO:0003783 |actin binding ; GO:0003779 CEL|F-actin capping protein complex ; GO:0008290 |nucleus ; GO:0005634 HG|species == Mouse; gene == Capg; score == 639; expect == 0.0; MEOW:MGgn0001015 (89%) |species == rat; score == 348; expect == 2.5e-96; MEOW:ref|XP_216043.2| (51%) |species == Human; gene == GSN; score == 342; expect == 1.4e-94; MEOW:HUgn0002934 (50%) |species == rat; score == 341; expect == 4.1e-94; MEOW:ref|XP_216699.2| (48%) |species == Fruitfly; gene == Gel; score == 248; expect == 2.1e-66; MEOW:FBgn0010225 (38%) |species == Mosquito; score == 242; expect == 1.1e-64; MEOW:AGgn0020539 (39%) |species == Worm; gene == K06A4.3; score == 195; expect == 1.9e-50; MEOW:CEgn0013304 (34%) |species == Weed; gene == At5g57320; score == 192; expect == 1.0e-48; MEOW:ATgn0023405 (35%) |species == Weed; gene == At2g41740; score == 184; expect == 1.6e-46; MEOW:ATgn0007565 (35%) |species == Weed; gene == At3g57410; score == 182; expect == 2.4e-46; MEOW:ATgn0016583 (33%) |species == rice; score == 178; expect == 7.5e-45; MEOW:gnl|TIGR|8354.m04192 (34%) |species == rice; score == 170; expect == 2.7e-42; MEOW:gnl|TIGR|8352.m04762 (33%) |species == Weed; gene == At4g30160; score == 168; expect == 1.6e-41; MEOW:ATgn0017510 (32%) |species == rice; score == 161; expect == 1.6e-39; MEOW:gnl|TIGR|8356.m01366 (33%) |species == rice; score == 149; expect == 4.9e-36; MEOW:gnl|TIGR|8360.m02189 (34%) } # EOR GENR { RETE|ID 1 HUgn0000823 CHR 1 11 DID 1 LocusLink:823 MAP 1 11q13 NAM 1 calpain 1, (mu/I) large subunit ORG 1 Homo sapiens SYM 1 CAPN1 ID|HUgn0000823 DID|LocusLink:823 ORG|Homo sapiens RSQ|REFSEQ:NM_005186 RPA|REFPROT:NP_005177 DBA|XM:NM_005186 |NA:AK022319 |NA:AK025380 |NA:BC008751 |NA:BC015091 |NA:BC017200 |NA:X04366 |NA:none PAC|XP:NP_005177 SYM|CAPN1 NAM|calpain 1, (mu/I) large subunit SYN|CANP |muCL |CANPL1 |muCANP FNC|calpain 1, large subunit |positive regulation of cell proliferation ; GO:0008284 |proteolysis and peptidolysis ; GO:0006508 REAB|The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular |cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, |and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with |distinct large, catalytic subunits associated with a common small, regulatory subunit. |This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. CHR|11 PRD|calpain, large polypeptide L1 |calcium-activated neutral proteinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=356181 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=823[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119749 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005186 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005186 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=356181 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.356181 |OMIM:114220 |SNP:823 ENZ|EC:3.4.22.17 |calpain activity ; GO:0004198 |calcium ion binding ; GO:0005509 |hydrolase activity ; GO:0016787 MAP|11q13 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Capn1; score == 1297; expect == 0.0; MEOW:MGgn0001016 (89%) |species == rat; score == 1295; expect == 0.0; MEOW:ref|NP_062025.1| (89%) |species == Human; gene == CAPN2; score == 935; expect == 0.0; MEOW:HUgn0000824 (63%) |species == Human; gene == CAPN11; score == 812; expect == 0.0; MEOW:HUgn0011131 (54%) |species == Fruitfly; gene == CalpB; score == 585; expect == 2e-167; MEOW:FBgn0025866 (44%) |species == Fruitfly; gene == CalpA; score == 509; expect == 2e-144; MEOW:FBgn0012051 (48%) |species == Mosquito; gene == LOC16570; score == 501; expect == 3e-142; MEOW:AGgn0016570 (50%) |species == Worm; gene == clp-1; score == 460; expect == 7e-130; MEOW:CEgn0029189 (48%) |species == Worm; gene == clp-4; score == 432; expect == 4e-121; MEOW:CEgn0030792 (44%) |species == Worm; gene == clp-7; score == 421; expect == 1e-117; MEOW:CEgn0022619 (47%) |species == Worm; gene == clp-6; score == 394; expect == 1e-109; MEOW:CEgn0022618 (43%) |species == Weed; gene == At1g55350; score == 211; expect == 1.5e-54; MEOW:ATgn0001653 (30%) } # EOR GENR { RETE|ID 1 HUgn0000824 CHR 1 1 DID 1 LocusLink:824 MAP 1 1q41-q42 NAM 1 calpain 2, (m/II) large subunit ORG 1 Homo sapiens SYM 1 CAPN2 ID|HUgn0000824 DID|LocusLink:824 ORG|Homo sapiens RSQ|REFSEQ:NM_001748 RPA|REFPROT:NP_001739 DBA|XM:NM_001748 |NA:J04700 |NA:AF261089 |NA:AK023851 |NA:AK056838 |NA:BC007686 |NA:BC011828 |NA:BC021303 |NA:M23254 |NA:none PAC|XP:NP_001739 SYM|CAPN2 NAM|calpain 2, (m/II) large subunit SYN|mCANP |CANPL2 |CANPml FNC|calpain 2, large subunit |proteolysis and peptidolysis ; GO:0006508 REAB|The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular |cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, |and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with |distinct large, catalytic subunits associated with a common small, regulatory subunit. |This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple |heterogeneous transcriptional start sites in the 5' UTR have been reported. CHR|1 PRD|calpain, large polypeptide L2 |calcium-activated neutral proteinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=350899 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=824[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119750 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001748 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001748 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=350899 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26060 DBL|UNIGENE:Hs.350899 |OMIM:114230 |SNP:824 ENZ|EC:3.4.22.17 |calpain activity ; GO:0004198 |calcium ion binding ; GO:0005509 |hydrolase activity ; GO:0016787 MAP|1q41-q42 CEL|intracellular ; GO:0005622 HG|species == rat; score == 1316; expect == 0.0; MEOW:ref|NP_058812.1| (93%) |species == Mouse; gene == Capn2; score == 1311; expect == 0.0; MEOW:MGgn0001017 (93%) |species == Human; gene == CAPN1; score == 935; expect == 0.0; MEOW:HUgn0000823 (63%) |species == Fruitfly; gene == CalpB; score == 581; expect == 3e-166; MEOW:FBgn0025866 (44%) |species == Fruitfly; gene == CalpA; score == 534; expect == 7e-152; MEOW:FBgn0012051 (49%) |species == Mosquito; gene == LOC16570; score == 515; expect == 4e-146; MEOW:AGgn0016570 (51%) |species == Worm; gene == clp-1; score == 466; expect == 1e-131; MEOW:CEgn0029189 (49%) |species == Worm; gene == clp-7; score == 415; expect == 6e-116; MEOW:CEgn0022619 (45%) |species == Worm; gene == clp-4; score == 415; expect == 5e-116; MEOW:CEgn0030792 (43%) |species == Worm; gene == clp-6; score == 411; expect == 9e-115; MEOW:CEgn0022618 (44%) |species == Weed; gene == At1g55350; score == 198; expect == 7.6e-51; MEOW:ATgn0001653 (29%) } # EOR GENR { RETE|ID 1 HUgn0000825 CHR 1 15 DID 1 LocusLink:825 MAP 1 15q15.1-q21.1 NAM 1 calpain 3, (p94) ORG 1 Homo sapiens SYM 1 CAPN3 ID|HUgn0000825 DID|LocusLink:825 ORG|Homo sapiens RSQ|REFSEQ:NM_000070 |REFSEQ:NM_024344 |REFSEQ:NM_173087 |REFSEQ:NM_173088 |REFSEQ:NM_173089 |REFSEQ:NM_173090 RPA|REFPROT:NP_000061 |REFPROT:NP_077320 |REFPROT:NP_775110 |REFPROT:NP_775111 |REFPROT:NP_775112 |REFPROT:NP_775113 DBA|XM:NM_000070 |XM:NM_024344 |XM:NM_173087 |XM:NM_173088 |XM:NM_173089 |XM:NM_173090 |NA:AF209502 |NA:AF127764 |NA:AF127765 |NA:AK027249 |NA:AK097401 |NA:BC003169 |NA:BC003521 |NA:BC004883 |NA:BC007810 |NA:X85030 |NA:none PAC|XP:NP_000061 |XP:NP_077320 |XP:NP_775110 |XP:NP_775111 |XP:NP_775112 |XP:NP_775113 SYM|CAPN3 NAM|calpain 3, (p94) SYN|p94 |CANP3 |LGMD2 |nCL-1 |CANPL3 |LGMD2A |MGC4403 |MGC10767 |MGC11121 |MGC14344 FNC|calpain 3 isoform a |calpain 3 isoform b |calpain 3 isoform c |calpain 3 isoform d |calpain 3 isoform e |muscle development ; GO:0007517 REAB|Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular |protease, although its function has not been well established. This gene encodes |a muscle-specific member of the calpain large subunit family that specifically binds |to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies |type 2A. Alternative splicing results in multiple transcripts encoding several different |isoforms. CHR|15 PRD|calpain, large polypeptide L3 |calpain p94, large [catalytic] subunit |muscle-specific calcium-activated neutral protease 3 large subunit DBL|OMIM:114240 |SNP:825 |UWCM:119751.html ENZ|EC:3.4.22.17 |calpain activity ; GO:0004198 |cysteine-type peptidase activity ; GO:0008234 |signal transducer activity ; GO:0004871 MAP|15q15.1-q21.1 PHP|Muscular dystrophy, limb-girdle, type 2A URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=825[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119751 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000070 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000070 |http://www.geneclinics.org/query?mim=114240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26061 |http://www.dmd.nl CEL|intracellular ; GO:0005622 HG|species == rat; score == 1595; expect == 0.0; MEOW:ref|NP_058813.1| (94%) |species == Mouse; gene == Capn3; score == 1589; expect == 0.0; MEOW:MGgn0001018 (93%) |species == Human; gene == CAPN9; score == 758; expect == 0.0; MEOW:HUgn0010753 (48%) |species == Human; gene == CAPN1; score == 729; expect == 0.0; MEOW:HUgn0000823 (48%) |species == Human; gene == CAPN2; score == 679; expect == 0.0; MEOW:HUgn0000824 (45%) |species == Human; gene == CAPN11; score == 653; expect == 0.0; MEOW:HUgn0011131 (45%) |species == Fruitfly; gene == CalpB; score == 585; expect == 2e-167; MEOW:FBgn0025866 (40%) |species == Fruitfly; gene == CalpA; score == 517; expect == 9e-147; MEOW:FBgn0012051 (42%) |species == Mosquito; gene == LOC16570; score == 515; expect == 2e-146; MEOW:AGgn0016570 (46%) |species == Worm; gene == clp-1; score == 451; expect == 7e-127; MEOW:CEgn0029189 (44%) |species == Worm; gene == clp-4; score == 421; expect == 8e-118; MEOW:CEgn0030792 (39%) |species == Worm; gene == clp-7; score == 417; expect == 1e-116; MEOW:CEgn0022619 (42%) |species == Worm; gene == clp-6; score == 414; expect == 1e-115; MEOW:CEgn0022618 (41%) |species == Weed; gene == At1g55350; score == 221; expect == 1.0e-57; MEOW:ATgn0001653 (32%) } # EOR GENR { RETE|ID 1 HUgn0000826 CHR 1 19 DID 1 LocusLink:826 MAP 1 19q13.13 NAM 1 calpain, small subunit 1 ORG 1 Homo sapiens SYM 1 CAPNS1 ID|HUgn0000826 DID|LocusLink:826 ORG|Homo sapiens RSQ|REFSEQ:NM_001749 RPA|REFPROT:NP_001740 DBA|XM:NM_001749 |NA:AC002984 |NA:AD001527 |NA:M31501 |NA:M31511 |NA:X64180 |NA:X64190 |NA:AY007141 |NA:BC000592 |NA:BC007779 |NA:BC011903 |NA:BC017308 |NA:BC018931 |NA:BC021933 |NA:BC023643 |NA:X04106 |NA:none PAC|XP:NP_001740 SYM|CAPNS1 NAM|calpain, small subunit 1 SYN|30K |CANP |CDPS |CANPS |CAPN4 FNC|calpain, small subunit 1 |positive regulation of cell proliferation ; GO:0008284 REAB|Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. |Calpain families have been implicated in neurodegenerative processes, as their activation |can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric |with distinct large subunits associated with common small subunits, all of which |are encoded by different genes. This gene encodes a small subunit common to both |calpain I and II and is associated with myotonic dystrophy. CHR|19 PRD|calpain, small polypeptide |calpain 4, small subunit (30K) |calcium-activated neutral proteinase |calcium-dependent protease, small subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388469 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=826[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119752 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001749 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001749 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388469 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.388469 |OMIM:114170 |SNP:826 MAP|19q13.13 ENZ|calpain activity ; GO:0004198 |calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Capns1; score == 414; expect == 2e-116; MEOW:MGgn0001019 (95%) |species == rat; score == 357; expect == 3.8e-99; MEOW:ref|XP_341825.1| (92%) |species == Human; gene == CAPNS2; score == 320; expect == 3.9e-88; MEOW:HUgn0084290 (72%) |species == rat; score == 292; expect == 1.5e-79; MEOW:ref|XP_226357.2| (69%) |species == Fruitfly; gene == CalpB; score == 140; expect == 4.2e-34; MEOW:FBgn0025866 (38%) |species == Mosquito; score == 138; expect == 1.4e-33; MEOW:AGgn0029129 (42%) } # EOR GENR { RETE|ID 1 HUgn0000827 CHR 1 X DID 1 LocusLink:827 MAP 1 Xq23 NAM 1 calpain 6 ORG 1 Homo sapiens SYM 1 CAPN6 ID|HUgn0000827 DID|LocusLink:827 ORG|Homo sapiens RSQ|REFSEQ:NM_014289 RPA|REFPROT:NP_055104 DBA|XM:NM_014289 |NA:A98730 |NA:AL031117 |NA:AF029232 |NA:AJ000388 |NA:BC000730 |NA:L32067 |NA:none PAC|XP:NP_055104 SYM|CAPN6 NAM|calpain 6 SYN|CANPX |CAPNX |CalpM |DJ914P14.1 FNC|calpain 6 |proteolysis and peptidolysis ; GO:0006508 REAB|Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. |The calpain proteins are heterodimers consisting of an invariant small subunit and |variable large subunits. The large subunit possesses a cysteine protease domain, |and both subunits possess calcium-binding domains. Calpains have been implicated |in neurodegenerative processes, as their activation can be triggered by calcium |influx and oxidative stress. The protein encoded by this gene is highly expressed |in the placenta. Its C-terminal region lacks any homology to the calmodulin-like |domain of other calpains. It also lacks critical active site residues and thus is |suggested to be proteolytically inactive. CHR|X PRD|calpamodulin |calpain-like protease URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169172 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=827[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9478353 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014289 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014289 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169172 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.169172 |OMIM:300146 |SNP:827 ENZ|EC:3.4.22.17 |calpain activity ; GO:0004198 MAP|Xq23 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Capn6; score == 1283; expect == 0.0; MEOW:MGgn0001021 (95%) |species == rat; score == 1278; expect == 0.0; MEOW:ref|XP_346870.1| (95%) |species == Human; gene == CAPN5; score == 587; expect == 7e-168; MEOW:HUgn0000726 (46%) |species == Worm; gene == tra-3; score == 362; expect == 2e-100; MEOW:CEgn0002849 (36%) |species == Fruitfly; gene == CalpA; score == 299; expect == 1.7e-81; MEOW:FBgn0012051 (36%) |species == Worm; gene == clp-1; score == 298; expect == 3.3e-81; MEOW:CEgn0029189 (36%) |species == Mosquito; gene == LOC16570; score == 291; expect == 4.3e-79; MEOW:AGgn0016570 (34%) |species == Fruitfly; gene == CalpB; score == 283; expect == 1.6e-76; MEOW:FBgn0025866 (34%) |species == Mosquito; gene == LOC16690; score == 248; expect == 3.2e-66; MEOW:AGgn0016690 (33%) |species == Weed; gene == At1g55350; score == 172; expect == 5.2e-43; MEOW:ATgn0001653 (28%) } # EOR GENR { RETE|ID 1 HUgn0000828 CHR 1 19 DID 1 LocusLink:828 MAP 1 19p13.3 NAM 1 calcyphosine ORG 1 Homo sapiens SYM 1 CAPS ID|HUgn0000828 DID|LocusLink:828 ORG|Homo sapiens RSQ|REFSEQ:NM_004058 |REFSEQ:NM_080590 RPA|REFPROT:NP_004049 |REFPROT:NP_542157 DBA|XM:NM_004058 |XM:NM_080590 |NA:AC004602 |NA:AK090469 |NA:BC011961 |NA:BC019065 |NA:BG768134 |NA:X97966 |NA:none PAC|XP:NP_004049 |XP:NP_542157 SYM|CAPS NAM|calcyphosine SYN|CAPS1 FNC|calcyphosine isoform a |calcyphosine isoform b |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes a calcium-binding protein, which may play a role in the regulation |of ion transport. A similar protein was first described as a potentially important |regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. |Alternative splicing of this gene generates two transcript variants. CHR|19 PRD|calcyphosine 1 |thyroid protein p24 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26685 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=828[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125209 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004058 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004058 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26685 DBL|UNIGENE:Hs.26685 |OMIM:114212 |SNP:828 MAP|19p13.3 ENZ|calcium ion binding ; GO:0005509 HG|species == rat; score == 215; expect == 1.3e-56; MEOW:ref|XP_215500.2| (55%) |species == Mouse; gene == 1700028N11Rik; score == 184; expect == 1.6e-47; MEOW:MGgn0017715 (55%) |species == Human; gene == MGC26610; score == 180; expect == 2.5e-46; MEOW:HUgn0133690 (53%) |species == Mosquito; score == 179; expect == 1.3e-45; MEOW:AGgn0021556 (47%) |species == Fruitfly; gene == CG31345; score == 171; expect == 2.0e-43; MEOW:FBgn0051345 (47%) |species == Fruitfly; gene == CG10126; score == 165; expect == 1.9e-41; MEOW:FBgn0038088 (47%) } # EOR GENR { RETE|ID 1 HUgn0000829 CHR 1 1 DID 1 LocusLink:829 MAP 1 1p13.1 NAM 1 capping protein (actin filament) muscle Z-line, alpha 1 ORG 1 Homo sapiens SYM 1 CAPZA1 ID|HUgn0000829 DID|LocusLink:829 ORG|Homo sapiens RSQ|REFSEQ:NM_006135 RPA|REFPROT:NP_006126 DBA|XM:NM_006135 |NA:BC000144 |NA:BC034391 |NA:U56637 |NA:none PAC|XP:NP_006126 SYM|CAPZA1 NAM|capping protein (actin filament) muscle Z-line, alpha 1 SYN|CAPZ |CAZ1 |CAPPA1 FNC|F-actin capping protein alpha-1 subunit |protein complex assembly ; GO:0006461 |cell motility ; GO:0006928 |actin cytoskeleton organization and biogenesis ; GO:0030036 REAB|CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene |encodes the alpha subunit of the barbed-end actin binding protein. The protein |regulates growth of the actin filament by capping the barbed end of growing actin |filaments. CHR|1 PRD|Cap Z URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=309415 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=829[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344723 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006135 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006135 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=309415 DBL|UNIGENE:Hs.309415 |OMIM:601580 |SNP:829 MAP|1p13.1 CEL|F-actin capping protein complex ; GO:0008290 ENZ|F-actin capping activity ; GO:0003782 HG|species == rat; score == 544; expect == 2e-155; MEOW:ref|XP_227551.2| (97%) |species == Mouse; gene == Cappa1; score == 540; expect == 2e-154; MEOW:MGgn0001024 (96%) |species == Mouse; gene == Capza2; score == 490; expect == 4e-139; MEOW:MGgn0001027 (86%) |species == rat; score == 490; expect == 5e-139; MEOW:ref|XP_347257.1| (86%) |species == Human; gene == CAPZA2; score == 488; expect == 2e-138; MEOW:HUgn0000830 (86%) |species == Mosquito; gene == LOC17140; score == 378; expect == 2e-105; MEOW:AGgn0017140 (64%) |species == Fruitfly; gene == CG10540; score == 376; expect == 9e-105; MEOW:FBgn0034577 (64%) |species == Worm; gene == cap-1; score == 298; expect == 1.7e-81; MEOW:CEgn0000124 (55%) |species == Weed; gene == At3g05520; score == 142; expect == 1.8e-34; MEOW:ATgn0015324 (29%) } # EOR GENR { RETE|ID 1 HUgn0000830 CHR 1 7 DID 1 LocusLink:830 MAP 1 7q31.2-q31.3 NAM 1 capping protein (actin filament) muscle Z-line, alpha 2 ORG 1 Homo sapiens SYM 1 CAPZA2 ID|HUgn0000830 DID|LocusLink:830 ORG|Homo sapiens RSQ|REFSEQ:NM_006136 RPA|REFPROT:NP_006127 DBA|XM:NM_006136 |XM:NM_006136 |NA:AC002543 |NA:BC005338 |NA:BC015963 |NA:U03269 |NA:U03851 |NA:none PAC|XP:NP_006127 |XP:NP_006127 SYM|CAPZA2 NAM|capping protein (actin filament) muscle Z-line, alpha 2 SYN|CAPZ |CAPPA2 FNC|capping protein (actin filament) muscle Z-line, alpha 2 |protein complex assembly ; GO:0006461 |cell motility ; GO:0006928 |actin cytoskeleton organization and biogenesis ; GO:0030036 REAB|CAPZA2 is a member of the F-actin capping protein alpha subunit family. CAPZA2 is |the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the |barbed end of actin filaments, Cap Z regulates the growth of the actin filaments |at the barbed end. CAPZA2 is mapped to 7q31.2-q31.3, with MET centromeric and WNT2 |and CFTR distal to the gene. CHR|7 PRD|F-actin capping protein alpha-2 subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=369579 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=830[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344724 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006136 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006136 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=369579 DBL|UNIGENE:Hs.369579 |OMIM:601571 |SNP:830 MAP|7q31.2-q31.3 CEL|F-actin capping protein complex ; GO:0008290 ENZ|F-actin capping activity ; GO:0003782 HG|species == Mouse; gene == Capza2; score == 545; expect == 5e-156; MEOW:MGgn0001027 (98%) |species == rat; score == 545; expect == 8e-156; MEOW:ref|XP_347257.1| (98%) |species == rat; score == 490; expect == 5e-139; MEOW:ref|XP_227551.2| (86%) |species == Human; gene == CAPZA1; score == 488; expect == 2e-138; MEOW:HUgn0000829 (86%) |species == Mouse; gene == Cappa1; score == 486; expect == 4e-138; MEOW:MGgn0001024 (86%) |species == Fruitfly; gene == CG10540; score == 369; expect == 1e-102; MEOW:FBgn0034577 (61%) |species == Mosquito; gene == LOC17140; score == 363; expect == 6e-101; MEOW:AGgn0017140 (59%) |species == Worm; gene == cap-1; score == 288; expect == 1.8e-78; MEOW:CEgn0000124 (53%) |species == Weed; gene == At3g05520; score == 152; expect == 2.9e-37; MEOW:ATgn0015324 (30%) |species == Yeast; gene == CAP1; score == 130; expect == 9.7e-31; MEOW:SGgn0001490 (30%) } # EOR GENR { RETE|ID 1 HUgn0000831 CHR 1 5 DID 1 LocusLink:831 MAP 1 5q15-q21 NAM 1 calpastatin ORG 1 Homo sapiens SYM 1 CAST ID|HUgn0000831 DID|LocusLink:831 ORG|Homo sapiens RSQ|REFSEQ:NM_001750 |REFSEQ:NM_173060 |REFSEQ:NM_173061 |REFSEQ:NM_173062 RPA|REFPROT:NP_001741 |REFPROT:NP_775083 |REFPROT:NP_775084 |REFPROT:NP_775085 DBA|XM:NM_001750 |XM:NM_173060 |XM:NM_173061 |XM:NM_173062 |NA:M28227 |NA:M28228 |NA:M28229 |NA:M28230 |NA:M86249 |NA:U83601 |NA:AB026049 |NA:AF095891 |NA:AF327443 |NA:AK098137 |NA:AL832174 |NA:AL832349 |NA:AY189741 |NA:BC013579 |NA:BC016066 |NA:BT009783 |NA:BX648397 |NA:D16217 |NA:D50827 |NA:M33328 |NA:M86258 |NA:S73329 |NA:U26724 |NA:U31345 |NA:U31346 |NA:U38525 |NA:U58996 PAC|XP:NP_001741 |XP:NP_775083 |XP:NP_775084 |XP:NP_775085 SYM|CAST NAM|calpastatin SYN|BS-17 |MGC9402 FNC|calpastatin isoform a |calpastatin isoform b |calpastatin isoform c |calpastatin isoform d REAB|The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine |protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition |domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor |protein. The calpain/calpastatin system is involved in numerous membrane fusion |events, such as neural vesicle exocytosis and platelet and red-cell aggregation. |The encoded protein is also thought to affect the expression levels of genes encoding |structural or regulatory proteins. Several alternatively spliced transcript variants |of this gene have been described, but only some of their full length natures have |been determined. CHR|5 PRD|calpain inhibitor |sperm BS-17 component |heart-type calpastatin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440961 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=831[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125210 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_173060 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_173060 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440961 DBL|UNIGENE:Hs.440961 |OMIM:114090 |SNP:831 MAP|5q15-q21 ENZ|endopeptidase inhibitor activity ; GO:0004866 HG|species == Mouse; gene == Cast; score == 690; expect == 0.0; MEOW:MGgn0001061 (66%) |species == rat; score == 654; expect == 0.0; MEOW:ref|XP_346608.1| (65%) |species == rat; score == 654; expect == 0.0; MEOW:ref|XP_347364.1| (65%) } # EOR GENR { RETE|ID 1 HUgn0000832 CHR 1 1 DID 1 LocusLink:832 MAP 1 1p36.1 NAM 1 capping protein (actin filament) muscle Z-line, beta ORG 1 Homo sapiens SYM 1 CAPZB ID|HUgn0000832 DID|LocusLink:832 ORG|Homo sapiens RSQ|REFSEQ:NM_004930 RPA|REFPROT:NP_004921 DBA|XM:NM_004930 |NA:AK125085 |NA:BC008095 |NA:BC012305 |NA:BC024601 |NA:U03271 |NA:none PAC|XP:NP_004921 SYM|CAPZB NAM|capping protein (actin filament) muscle Z-line, beta SYN|CAPB |CAPZ |CAPPB FNC|F-actin capping protein beta subunit REAB|CAPZB is a member of the F-actin capping protein family. This gene encodes the beta |subunit of the barbed-end actin binding protein. The protein regulates growth of |the actin filament by capping the barbed end of growing actin filaments. CHR|1 PRD|Cap Z URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333417 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=832[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344725 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004930 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004930 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=333417 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26072 DBL|UNIGENE:Hs.333417 |OMIM:601572 |SNP:832 MAP|1p36.1 ENZ|actin binding ; GO:0003779 CEL|F-actin capping protein complex ; GO:0008290 |actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Capzb; score == 551; expect == 1e-157; MEOW:MGgn0001029 (100%) |species == rat; score == 551; expect == 1e-157; MEOW:ref|XP_216562.2| (100%) |species == Mosquito; score == 464; expect == 1e-131; MEOW:AGgn0019124 (82%) |species == Fruitfly; gene == cpb; score == 459; expect == 1e-129; MEOW:FBgn0011570 (81%) |species == Worm; gene == cap-2; score == 381; expect == 1e-106; MEOW:CEgn0000125 (66%) |species == Weed; gene == At1g71790; score == 248; expect == 3.0e-66; MEOW:ATgn0004018 (51%) |species == Yeast; gene == CAP2; score == 235; expect == 4.8e-63; MEOW:SGgn0001296 (46%) |species == rice; score == 234; expect == 4.3e-62; MEOW:gnl|TIGR|8360.m02403 (43%) } # EOR GENR { RETE|ID 1 HUgn0000833 CHR 1 11 DID 1 LocusLink:833 MAP 1 11p15.5 NAM 1 cysteinyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 CARS ID|HUgn0000833 DID|LocusLink:833 ORG|Homo sapiens RSQ|REFSEQ:NM_001751 |REFSEQ:NM_139273 RPA|REFPROT:NP_001742 |REFPROT:NP_644802 DBA|XM:NM_001751 |XM:NM_139273 |NA:AF288206 |NA:AF288207 |NA:AK096313 |NA:BC002880 |NA:BT009913 |NA:BX647906 |NA:L06845 |NA:none PAC|XP:NP_001742 |XP:NP_644802 SYM|CARS NAM|cysteinyl-tRNA synthetase SYN|CYSRS |MGC:11246 FNC|cysteine-tRNA ligase isoform a |cysteine-tRNA ligase isoform b |protein biosynthesis ; GO:0006412 |cysteinyl-tRNA aminoacylation ; GO:0006423 REAB|This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. |Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a |specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene |is one of several located near the imprinted gene domain of 11p15.5, an important |tumor-suppressor gene region. Alterations in this region have been associated with |the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, |and lung, ovarian, and breast cancer. Alternative splicing of this gene results |in two transcript variants. CHR|11 PRD|cysteine translase |cysteine-tRNA synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=304134 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=833[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136267 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_139273 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_139273 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=304134 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00272 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 DBL|UNIGENE:Hs.304134 |OMIM:123859 |SNP:833 ENZ|EC:6.1.1.16 |tRNA binding ; GO:0000049 |ATP binding ; GO:0005524 |cysteine-tRNA ligase activity ; GO:0004817 |ligase activity ; GO:0016874 MAP|11p15.5 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Cars; score == 1319; expect == 0.0; MEOW:MGgn0001042 (90%) |species == rat; score == 1281; expect == 0.0; MEOW:ref|XP_215134.2| (83%) |species == Mosquito; score == 831; expect == 0.0; MEOW:AGgn0016493 (59%) |species == Fruitfly; gene == Aats-cys; score == 831; expect == 0.0; MEOW:FBgn0027091 (59%) |species == Worm; gene == crs-1; score == 735; expect == 0.0; MEOW:CEgn0028182 (53%) |species == Yeast; gene == YNL247W; score == 579; expect == 5e-166; MEOW:SGgn0005191 (44%) |species == Human; gene == FLJ12118; score == 241; expect == 1.1e-63; MEOW:HUgn0079587 (36%) |species == Weed; gene == At2g31170; score == 209; expect == 2.2e-54; MEOW:ATgn0008498 (36%) |species == Weed; gene == At5g38830; score == 194; expect == 2.0e-49; MEOW:ATgn0025444 (35%) |species == ecoli; score == 192; expect == 4.3e-49; MEOW:ref|NP_415059.1| (42%) |species == rice; score == 189; expect == 8.3e-48; MEOW:gnl|TIGR|8362.m02485 (34%) |species == rice; score == 180; expect == 1.9e-45; MEOW:gnl|TIGR|8360.m00391 (38%) } # EOR GENR { RETE|ID 1 HUgn0000834 CHR 1 11 DID 1 LocusLink:834 MAP 1 11q23 NAM 1 caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) ORG 1 Homo sapiens SYM 1 CASP1 ID|HUgn0000834 DID|LocusLink:834 ORG|Homo sapiens RSQ|REFSEQ:NM_001223 |REFSEQ:NM_033292 |REFSEQ:NM_033293 |REFSEQ:NM_033294 |REFSEQ:NM_033295 RPA|REFPROT:NP_001214 |REFPROT:NP_150634 |REFPROT:NP_150635 |REFPROT:NP_150636 |REFPROT:NP_150637 DBA|XM:NM_001223 |XM:NM_033292 |XM:NM_033293 |XM:NM_033294 |XM:NM_033295 |NA:BC041689 |NA:M87507 |NA:U13697 |NA:U13698 |NA:U13699 |NA:U13700 |NA:X65019 |NA:none PAC|XP:NP_001214 |XP:NP_150634 |XP:NP_150635 |XP:NP_150636 |XP:NP_150637 SYM|CASP1 NAM|caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) SYN|ICE |P45 |IL1BC FNC|caspase 1 isoform alpha precursor |caspase 1 isoform beta precursor |caspase 1 isoform delta |caspase 1 isoform epsilon |caspase 1 isoform gamma precursor |pathogenesis ; GO:0009405 |proteolysis and peptidolysis ; GO:0006508 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. This gene was identified by |its ability to proteolytically cleave and activate the inactive precursor of interlukin-1, |a cytokine involved in the processes such as inflammation, septic shock, and wound |healing. This gene has been shown to induce cell apoptosis and may function in various |developmental stages. Studies of the similar gene in mouse suggested its role in |the pathogenesis of Huntington disease. Alternative splicing of this gene results |in five transcript variants encoding distinct isoforms. CHR|11 PRD|IL1B-convertase |interleukin 1-beta convertase |interleukin 1-B converting enzyme URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2490 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=834[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132368 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033292 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033292 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2490 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26083 DBL|UNIGENE:Hs.2490 |OMIM:147678 |SNP:834 ENZ|EC:3.4.22.36 |caspase-1 activity ; GO:0004201 |caspase activator activity ; GO:0008656 |cysteine-type peptidase activity ; GO:0008234 |apoptosis regulator activity ; GO:0016329 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 MAP|11q23 CEL|intracellular ; GO:0005622 HG|species == rat; score == 477; expect == 5e-135; MEOW:ref|NP_036894.2| (62%) |species == Mouse; gene == Casp1; score == 468; expect == 2e-132; MEOW:MGgn0001048 (61%) |species == Human; gene == CASP4; score == 368; expect == 3e-102; MEOW:HUgn0000837 (51%) |species == Human; gene == CASP5; score == 342; expect == 1.6e-94; MEOW:HUgn0000838 (49%) |species == Zfish; gene == caspa; score == 194; expect == 3.6e-51; MEOW:ZFgn0000857 (40%) } # EOR GENR { RETE|ID 1 HUgn0000835 CHR 1 7 DID 1 LocusLink:835 MAP 1 7q34-q35 NAM 1 caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) ORG 1 Homo sapiens SYM 1 CASP2 ID|HUgn0000835 DID|LocusLink:835 ORG|Homo sapiens RSQ|REFSEQ:NM_001224 |REFSEQ:NM_032982 |REFSEQ:NM_032983 |REFSEQ:NM_032984 RPA|REFPROT:NP_001215 |REFPROT:NP_116764 |REFPROT:NP_116765 |REFPROT:NP_116766 DBA|XM:NM_001224 |XM:NM_032982 |XM:NM_032983 |XM:NM_032984 |XM:NM_001224 |XM:NM_032982 |XM:NM_032983 |XM:NM_032984 |NA:AF314174 |NA:AF314175 |NA:BC002427 |NA:BG397039 |NA:BT007240 |NA:BX537669 |NA:U13021 |NA:U13022 |NA:none PAC|XP:NP_001215 |XP:NP_116764 |XP:NP_116765 |XP:NP_116766 |XP:NP_001215 |XP:NP_116764 |XP:NP_116765 |XP:NP_116766 SYM|CASP2 NAM|caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) SYN|ICH1 |NEDD2 |CASP-2 |ICH-1L |ICH-1L/1S FNC|caspase 2 isoform 1 preproprotein |caspase 2 isoform 2 precursor |caspase 2 isoform 3 |caspase 2 isoform 4 |apoptotic program ; GO:0008632 |proteolysis and peptidolysis ; GO:0006508 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. The proteolytic cleavage of |this protein is induced by a variety of apoptotic stimuli. Alternative splicing |of this gene results in four transcript variants which encode different isoforms. CHR|7 PRD|ICH-1 protease |NEDD2 apoptosis regulatory gene URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433103 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=835[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270140 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032982 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032982 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433103 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.433103 |OMIM:600639 |SNP:835 MAP|7q34-q35 ENZ|caspase-2 activity ; GO:0004202 HG|species == rat; score == 516; expect == 1e-146; MEOW:ref|NP_071967.2| (91%) |species == Mouse; gene == Casp2; score == 514; expect == 2e-146; MEOW:MGgn0001052 (91%) } # EOR GENR { RETE|ID 1 HUgn0000836 CHR 1 4 DID 1 LocusLink:836 MAP 1 4q34 NAM 1 caspase 3, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP3 ID|HUgn0000836 DID|LocusLink:836 ORG|Homo sapiens RSQ|REFSEQ:NM_004346 |REFSEQ:NM_032991 RPA|REFPROT:NP_004337 |REFPROT:NP_116786 DBA|XM:NM_004346 |XM:NM_032991 |NA:AU127028 |NA:AU133051 |NA:BC016926 |NA:BX647609 |NA:U13737 |NA:U13738 |NA:U26943 |NA:none PAC|XP:NP_004337 |XP:NP_116786 SYM|CASP3 NAM|caspase 3, apoptosis-related cysteine protease SYN|CPP32 |SCA-1 |CPP32B |APOPAIN FNC|caspase 3 preproprotein |induction of apoptosis by extracellular signals ; GO:0008624 |induction of apoptosis by intracellular signals ; GO:0008629 |pathogenesis ; GO:0009405 |proteolysis and peptidolysis ; GO:0006508 |apoptosis ; GO:0006915 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. This protein was shown to cleave |and activate caspases 6, 7 and 9, and itself could be processed by caspases 8, 9 |and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A |precursor protein, which is associated with neuronal death in Alzheimer's disease. |Alternative splicing of this gene results in two transcript variants which encode |the same protein. CHR|4 PRD|Yama |apopain |PARP cleavage protease |cysteine protease CPP32 |SREBP cleavage activity 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=141125 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=836[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1336642 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004346 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004346 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=141125 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 DBL|UNIGENE:Hs.141125 |OMIM:600636 |SNP:836 MAP|4q34 ENZ|caspase-3 activity ; GO:0004208 |cysteine-type peptidase activity ; GO:0008234 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 HG|species == rat; score == 511; expect == 1e-145; MEOW:ref|NP_037054.1| (89%) |species == Mouse; gene == Casp3; score == 502; expect == 5e-143; MEOW:MGgn0001053 (86%) |species == rat; score == 441; expect == 2e-124; MEOW:ref|XP_218253.2| (80%) |species == Zfish; gene == casp3; score == 305; expect == 1.3e-84; MEOW:ZFgn0002390 (61%) |species == Human; gene == CASP7; score == 282; expect == 1.6e-76; MEOW:HUgn0000840 (57%) |species == Mosquito; gene == LOC10319; score == 194; expect == 1.9e-50; MEOW:AGgn0010319 (42%) |species == Fruitfly; gene == Ice; score == 193; expect == 4.4e-50; MEOW:FBgn0019972 (42%) |species == Mosquito; score == 192; expect == 1.4e-49; MEOW:AGgn0025601 (39%) |species == Mosquito; gene == LOC15118; score == 184; expect == 2.6e-47; MEOW:AGgn0015118 (37%) |species == Fruitfly; gene == Dcp-1; score == 181; expect == 1.7e-46; MEOW:FBgn0010501 (39%) |species == Mosquito; score == 172; expect == 1.2e-43; MEOW:AGgn0015392 (38%) |species == Mosquito; gene == LOC8707; score == 169; expect == 1.1e-42; MEOW:AGgn0008707 (39%) |species == Mosquito; score == 169; expect == 1.1e-42; MEOW:AGgn0021365 (36%) |species == Fruitfly; gene == decay; score == 161; expect == 2.4e-40; MEOW:FBgn0028381 (37%) } # EOR GENR { RETE|ID 1 HUgn0000837 CHR 1 11 DID 1 LocusLink:837 MAP 1 11q22.2-q22.3 NAM 1 caspase 4, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP4 ID|HUgn0000837 DID|LocusLink:837 ORG|Homo sapiens RSQ|REFSEQ:NM_001225 |REFSEQ:NM_033306 |REFSEQ:NM_033307 RPA|REFPROT:NP_001216 |REFPROT:NP_150649 |REFPROT:NP_150650 DBA|XM:NM_001225 |XM:NM_033306 |XM:NM_033307 |NA:AK057094 |NA:AL050391 |NA:BC008060 |NA:BC017839 |NA:U25804 |NA:U28014 |NA:U28976 |NA:U28977 |NA:U28978 |NA:U28979 |NA:Z48810 |NA:none PAC|XP:NP_001216 |XP:NP_150649 |XP:NP_150650 SYM|CASP4 NAM|caspase 4, apoptosis-related cysteine protease SYN|TX |ICH-2 |Mih1/TX |ICEREL-II |ICErel-II |ICE(rel)II FNC|caspase 4 isoform alpha precursor |caspase 4 isoform delta precursor |caspase 4 isoform gamma precursor |induction of apoptosis ; GO:0006917 |proteolysis and peptidolysis ; GO:0006508 |apoptosis ; GO:0006915 REAB|This gene encodes a protein that is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed |of a prodomain and a large and small protease subunit. Activation of caspases requires |proteolytic processing at conserved internal aspartic residues to generate a heterodimeric |enzyme consisting of the large and small subunits. This caspase is able to cleave |and activate its own, as well as caspase 1, precursor proteins. When overexpressed, |this gene has been shown to induce cell apoptosis. Alternative splicing results |in 3 transcript variants encoding distinct isoforms. CHR|11 PRD|apoptotic cysteine protease Mih1/TX URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74122 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=837[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:605584 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033306 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033306 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74122 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26088 DBL|UNIGENE:Hs.74122 |OMIM:602664 |SNP:837 MAP|11q22.2-q22.3 ENZ|thiol protease ; GO:0004220 |caspase-4 activity ; GO:0004203 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == CASP5; score == 521; expect == 2e-148; MEOW:HUgn0000838 (74%) |species == Mouse; gene == Casp4; score == 438; expect == 3e-123; MEOW:MGgn0001049 (59%) |species == rat; score == 438; expect == 3e-123; MEOW:ref|NP_446188.1| (58%) |species == Mouse; gene == Casp12; score == 369; expect == 2e-102; MEOW:MGgn0001050 (48%) |species == rat; score == 361; expect == 5e-100; MEOW:ref|NP_569106.1| (47%) |species == Zfish; gene == caspa; score == 184; expect == 4.8e-48; MEOW:ZFgn0000857 (38%) } # EOR GENR { RETE|ID 1 HUgn0000838 CHR 1 11 DID 1 LocusLink:838 MAP 1 11q22.2-q22.3 NAM 1 caspase 5, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP5 ID|HUgn0000838 DID|LocusLink:838 ORG|Homo sapiens RSQ|REFSEQ:NM_004347 RPA|REFPROT:NP_004338 DBA|XM:NM_004347 |NA:U28015 |NA:X94993 |NA:none PAC|XP:NP_004338 SYM|CASP5 NAM|caspase 5, apoptosis-related cysteine protease SYN|ICH-3 |ICEREL-III |ICErel-III |ICE(rel)III FNC|caspase 5, precursor |proteolysis and peptidolysis ; GO:0006508 |apoptosis ; GO:0006915 REAB|This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. |Sequential activation of caspases plays a central role in the execution-phase of |cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic |processing at conserved aspartic residues to produce 2 subunits, large and small, |that dimerize to form the active enzyme. Overexpression of the active form of this |enzyme has been shown to induce apoptosis in fibroblasts. Max, a central component |of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, |and apoptosis, was reported to be cleaved by this protein, which required Fas-mediated |dephosphorylation of Max. The expression of this gene was found to be regulated |by interferon-gamma and lipopolysaccharide. CHR|11 PRD|TY protease URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=213327 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3908461 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004347 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004347 DBL|UNIGENE:Hs.213327 |OMIM:602665 |SNP:838 MAP|11q22.2-q22.3 ENZ|cysteine-type peptidase activity ; GO:0008234 |apoptosis regulator activity ; GO:0016329 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 CEL|intracellular ; GO:0005622 HG|species == Human; gene == CASP4; score == 521; expect == 2e-148; MEOW:HUgn0000837 (74%) |species == Mouse; gene == Casp4; score == 390; expect == 8e-109; MEOW:MGgn0001049 (54%) |species == rat; score == 389; expect == 1e-108; MEOW:ref|NP_446188.1| (54%) |species == Mouse; gene == Casp12; score == 330; expect == 6.9e-91; MEOW:MGgn0001050 (45%) |species == rat; score == 329; expect == 2.0e-90; MEOW:ref|NP_569106.1| (45%) |species == Zfish; gene == caspa; score == 185; expect == 1.9e-48; MEOW:ZFgn0000857 (39%) |species == Zfish; gene == caspb; score == 149; expect == 1.1e-37; MEOW:ZFgn0002622 (33%) } # EOR GENR { RETE|ID 1 HUgn0000839 CHR 1 4 DID 1 LocusLink:839 MAP 1 4q25 NAM 1 caspase 6, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP6 ID|HUgn0000839 DID|LocusLink:839 ORG|Homo sapiens RSQ|REFSEQ:NM_001226 |REFSEQ:NM_032992 RPA|REFPROT:NP_001217 |REFPROT:NP_116787 DBA|XM:NM_001226 |XM:NM_032992 |NA:BC000305 |NA:BC004460 |NA:U20536 |NA:U20537 |NA:none PAC|XP:NP_001217 |XP:NP_116787 SYM|CASP6 NAM|caspase 6, apoptosis-related cysteine protease SYN|MCH2 FNC|caspase 6 isoform alpha preproprotein |caspase 6 isoform beta |induction of apoptosis ; GO:0006917 |proteolysis and peptidolysis ; GO:0006508 |apoptosis ; GO:0006915 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. This protein could be processed |by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the |caspase activation cascade. Alternative splicing of this gene results in two transcript |variants which encode different isoforms. CHR|4 PRD|apoptotic protease MCH-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3280 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=839[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3750010 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001226 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001226 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3280 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.3280 |OMIM:601532 |SNP:839 MAP|4q25 ENZ|cysteine-type peptidase activity ; GO:0008234 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 HG|species == Mouse; gene == Casp6; score == 521; expect == 9e-149; MEOW:MGgn0001054 (91%) |species == rat; score == 508; expect == 2e-144; MEOW:ref|NP_113963.1| (88%) |species == Human; gene == CASP3; score == 204; expect == 5.5e-53; MEOW:HUgn0000836 (41%) |species == Mosquito; gene == LOC10319; score == 189; expect == 1.1e-48; MEOW:AGgn0010319 (38%) |species == Fruitfly; gene == Ice; score == 186; expect == 1.0e-47; MEOW:FBgn0019972 (40%) |species == Zfish; gene == casp3; score == 185; expect == 1.2e-48; MEOW:ZFgn0002390 (38%) |species == Human; gene == CASP7; score == 184; expect == 4.9e-47; MEOW:HUgn0000840 (38%) |species == Mosquito; gene == LOC15118; score == 181; expect == 3.1e-46; MEOW:AGgn0015118 (38%) |species == Fruitfly; gene == Dcp-1; score == 179; expect == 1.2e-45; MEOW:FBgn0010501 (38%) |species == Mosquito; score == 173; expect == 1.2e-43; MEOW:AGgn0021367 (35%) |species == Mosquito; score == 172; expect == 1.1e-43; MEOW:AGgn0025601 (36%) |species == Mosquito; gene == LOC8707; score == 166; expect == 1.0e-41; MEOW:AGgn0008707 (38%) |species == Mosquito; score == 165; expect == 1.3e-41; MEOW:AGgn0015392 (38%) |species == Mosquito; score == 164; expect == 3.9e-41; MEOW:AGgn0021365 (34%) |species == Worm; gene == ced-3; score == 133; expect == 6.9e-32; MEOW:CEgn0000154 (32%) } # EOR GENR { RETE|ID 1 HUgn0000840 CHR 1 10 DID 1 LocusLink:840 MAP 1 10q25 NAM 1 caspase 7, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP7 ID|HUgn0000840 DID|LocusLink:840 ORG|Homo sapiens RSQ|REFSEQ:NM_001227 |REFSEQ:NM_033338 |REFSEQ:NM_033339 |REFSEQ:NM_033340 RPA|REFPROT:NP_001218 |REFPROT:NP_203124 |REFPROT:NP_203125 |REFPROT:NP_203126 DBA|XM:NM_001227 |XM:NM_033338 |XM:NM_033339 |XM:NM_033340 |NA:BC015799 |NA:BT006683 |NA:BX647973 |NA:U37448 |NA:U37449 |NA:U39613 |NA:U40281 |NA:U67206 |NA:U67320 |NA:none PAC|XP:NP_001218 |XP:NP_203124 |XP:NP_203125 |XP:NP_203126 SYM|CASP7 NAM|caspase 7, apoptosis-related cysteine protease SYN|MCH3 |CMH-1 |ICE-LAP3 FNC|caspase 7 isoform alpha precursor |caspase 7 isoform alpha, large subunit |caspase 7 isoform beta |caspase 7 isoform delta, large subunit |apoptotic program ; GO:0008632 |proteolysis and peptidolysis ; GO:0006508 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. The precursor of this caspase |can be cleaved by caspase 3 and 10. It has been shown to be activated upon cell |death stimuli and induce apoptosis. Alternative splicing of this gene results in |4 transcript variants, which encode 3 distinct isoforms. CHR|10 PRD|Lice2 alpha/beta/gamma |apoptotic protease MCH-3 |ICE-like apoptotic protease 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9216 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=840[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3750011 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033339 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033339 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9216 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 DBL|UNIGENE:Hs.9216 |OMIM:601761 |SNP:840 MAP|10q25 ENZ|cysteine-type peptidase activity ; GO:0008234 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 545; expect == 9e-156; MEOW:ref|NP_071596.1| (85%) |species == Mouse; gene == Casp7; score == 526; expect == 3e-150; MEOW:MGgn0001055 (82%) |species == Zfish; gene == casp3; score == 288; expect == 1.4e-79; MEOW:ZFgn0002390 (50%) |species == Human; gene == CASP3; score == 282; expect == 1.6e-76; MEOW:HUgn0000836 (57%) |species == Mosquito; gene == LOC10319; score == 211; expect == 2.2e-55; MEOW:AGgn0010319 (42%) |species == Fruitfly; gene == Ice; score == 210; expect == 1.0e-54; MEOW:FBgn0019972 (43%) |species == Fruitfly; gene == Dcp-1; score == 206; expect == 1.1e-53; MEOW:FBgn0010501 (44%) |species == Mosquito; score == 199; expect == 1.1e-51; MEOW:AGgn0025601 (40%) |species == Mosquito; score == 191; expect == 2.4e-49; MEOW:AGgn0021365 (41%) |species == Mosquito; score == 182; expect == 1.5e-46; MEOW:AGgn0015392 (40%) |species == Mosquito; gene == LOC8707; score == 179; expect == 1.1e-45; MEOW:AGgn0008707 (42%) |species == Mosquito; gene == LOC15118; score == 175; expect == 1.8e-44; MEOW:AGgn0015118 (36%) |species == Worm; gene == ced-3; score == 140; expect == 7.8e-34; MEOW:CEgn0000154 (33%) } # EOR GENR { RETE|ID 1 HUgn0000841 CHR 1 2 DID 1 LocusLink:841 MAP 1 2q33-q34 NAM 1 caspase 8, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP8 ID|HUgn0000841 DID|LocusLink:841 ORG|Homo sapiens RSQ|REFSEQ:NM_001228 |REFSEQ:NM_033355 |REFSEQ:NM_033356 |REFSEQ:NM_033357 |REFSEQ:NM_033358 RPA|REFPROT:NP_001219 |REFPROT:NP_203519 |REFPROT:NP_203520 |REFPROT:NP_203521 |REFPROT:NP_203522 DBA|XM:NM_001228 |XM:NM_033355 |XM:NM_033356 |XM:NM_033357 |XM:NM_033358 |NA:AF207672 |NA:AA312258 |NA:AF009620 |NA:AF380342 |NA:AF422927 |NA:AF422928 |NA:BC010390 |NA:BC017031 |NA:BC028223 |NA:U58143 |NA:U60520 |NA:X98172 |NA:X98173 |NA:X98174 |NA:X98175 |NA:X98176 |NA:X98177 |NA:X98178 |NA:none PAC|XP:NP_001219 |XP:NP_203519 |XP:NP_203520 |XP:NP_203521 |XP:NP_203522 SYM|CASP8 NAM|caspase 8, apoptosis-related cysteine protease SYN|MACH |MCH5 |FLICE FNC|caspase 8 isoform A |caspase 8 isoform B |caspase 8 isoform C |caspase 8 isoform D |caspase 8 isoform E |apoptotic program ; GO:0008632 |proteolysis and peptidolysis ; GO:0006508 REAB|This gene encodes a protein that is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed |of a prodomain, a large protease subunit, and a small protease subunit. Activation |of caspases requires proteolytic processing at conserved internal aspartic residues |to generate a heterodimeric enzyme consisting of the large and small subunits. This |protein is involved in the programmed cell death induced by Fas and various apoptotic |stimuli. The N-terminal FADD-like death effector domain of this protein suggests |that it may interact with Fas-interacting protein FADD. This protein was detected |in the insoluble fraction of the affected brain region from Huntington disease patients |but not in those from normal controls, which implicated the role in neurodegenerative |diseases. Alternative splicing of this gene results in five transcript variants. CHR|2 PRD|Mch5 isoform alpha |MACH-alpha-1/2/3 protein |MACH-beta-1/2/3/4 protein |FADD-homologous ICE/CED-3-like protease URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=243491 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=841[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4590254 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033357 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033357 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=243491 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26092 DBL|UNIGENE:Hs.243491 |OMIM:601763 |SNP:841 MAP|2q33-q34 PHP|Caspase 8 deficiency ENZ|caspase-8 activity ; GO:0004205 |cysteine-type peptidase activity ; GO:0008234 |apoptosis regulator activity ; GO:0016329 |hydrolase activity ; GO:0016787 |caspase activity ; GO:0030693 CEL|cytoskeleton ; GO:0005856 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Casp8; score == 612; expect == 7e-176; MEOW:MGgn0001056 (62%) |species == rat; score == 594; expect == 5e-170; MEOW:ref|NP_071613.1| (61%) |species == Zfish; gene == casp8; score == 287; expect == 4.3e-79; MEOW:ZFgn0000965 (36%) |species == Human; gene == CASP10; score == 280; expect == 1.3e-75; MEOW:HUgn0000843 (36%) |species == Fruitfly; gene == Ice; score == 151; expect == 7.0e-37; MEOW:FBgn0019972 (38%) |species == Mosquito; gene == LOC10319; score == 147; expect == 7.3e-36; MEOW:AGgn0010319 (37%) |species == Fruitfly; gene == Dcp-1; score == 145; expect == 3.8e-35; MEOW:FBgn0010501 (37%) |species == Mosquito; gene == LOC15118; score == 140; expect == 7.9e-34; MEOW:AGgn0015118 (35%) |species == Mosquito; score == 132; expect == 2.9e-31; MEOW:AGgn0021365 (29%) |species == Fruitfly; gene == decay; score == 132; expect == 2.4e-31; MEOW:FBgn0028381 (32%) |species == Mosquito; score == 130; expect == 9.1e-31; MEOW:AGgn0021367 (30%) } # EOR GENR { RETE|ID 1 HUgn0000842 CHR 1 1 DID 1 LocusLink:842 MAP 1 1p36.3-p36.1 NAM 1 caspase 9, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP9 ID|HUgn0000842 DID|LocusLink:842 ORG|Homo sapiens RSQ|REFSEQ:NM_001229 |REFSEQ:NM_032996 RPA|REFPROT:NP_001220 |REFPROT:NP_127463 DBA|XM:NM_001229 |XM:NM_032996 |NA:AB019205 |NA:AB015653 |NA:AB020979 |NA:AF093130 |NA:BC002452 |NA:BC006463 |NA:BT006911 |NA:U56390 |NA:U60521 |NA:none PAC|XP:NP_001220 |XP:NP_127463 SYM|CASP9 NAM|caspase 9, apoptosis-related cysteine protease SYN|MCH6 |APAF3 |APAF-3 |ICE-LAP6 FNC|caspase 9 isoform alpha preproprotein |caspase 9 isoform beta preproprotein |caspase activation via cytochrome c ; GO:0008635 |apoptotic program ; GO:0008632 |proteolysis and peptidolysis ; GO:0006508 REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. This protein is processed by |caspase APAF1; this step is thought to be one of the earliest in the caspase activation |cascade. Alternative splicing of this gene results in two transcript variants which |encode different isoforms. CHR|1 PRD|apoptotic protease MCH-6 |ICE-like apoptotic protease 6 |apoptotic protease activating factor 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=329502 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=842[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4590186 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001229 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001229 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=329502 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05020 DBL|UNIGENE:Hs.329502 |OMIM:602234 |SNP:842 MAP|1p36.3-p36.1 ENZ|caspase-9 activity ; GO:0004211 |enzyme activator activity ; GO:0008047 |apoptosis regulator activity ; GO:0016329 |caspase activity ; GO:0030693 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Casp9; score == 610; expect == 2e-175; MEOW:MGgn0001058 (72%) |species == rat; score == 610; expect == 6e-175; MEOW:ref|NP_113820.1| (71%) |species == Human; gene == CASP3; score == 155; expect == 2.3e-38; MEOW:HUgn0000836 (33%) |species == Zfish; gene == casp3; score == 146; expect == 1.2e-36; MEOW:ZFgn0002390 (31%) |species == Zfish; gene == casp8; score == 140; expect == 8.9e-35; MEOW:ZFgn0000965 (34%) |species == Human; gene == CASP8; score == 139; expect == 2.2e-33; MEOW:HUgn0000841 (32%) |species == Human; gene == CASP7; score == 134; expect == 6.1e-32; MEOW:HUgn0000840 (32%) } # EOR GENR { RETE|ID 1 HUgn0000843 CHR 1 2 DID 1 LocusLink:843 MAP 1 2q33-q34 NAM 1 caspase 10, apoptosis-related cysteine protease ORG 1 Homo sapiens SYM 1 CASP10 ID|HUgn0000843 DID|LocusLink:843 ORG|Homo sapiens RSQ|REFSEQ:NM_001230 |REFSEQ:NM_032974 |REFSEQ:NM_032976 |REFSEQ:NM_032977 RPA|REFPROT:NP_001221 |REFPROT:NP_116756 |REFPROT:NP_116758 |REFPROT:NP_116759 DBA|XM:NM_001230 |XM:NM_032974 |XM:NM_032976 |XM:NM_032977 |NA:AF111344 |NA:AF111345 |NA:BC042844 |NA:U60519 |NA:U86214 |NA:none PAC|XP:NP_001221 |XP:NP_116756 |XP:NP_116758 |XP:NP_116759 SYM|CASP10 NAM|caspase 10, apoptosis-related cysteine protease SYN|MCH4 |ALPS2 |FLICE2 FNC|Caspase 10 isoform a preproprotein |Caspase 10 isoform b preproprotein |Caspase 10 isoform c |Caspase 10 isoform d preproprotein REAB|This gene encodes a protein which is a member of the cysteine-aspartic acid protease |(caspase) family. Sequential activation of caspases plays a central role in the |execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo |proteolytic processing at conserved aspartic residues to produce 2 subunits, large |and small, that dimerize to form the active enzyme. This protein was shown to cleave |and activate caspases 3 and 7, and itself could be processed by caspase 8. Mutations |in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative |syndrome. Four alternatively spliced transcript variants encoding different isoforms |have been described for this gene. CHR|2 PRD|FADD-like ICE2 |apoptotic protease MCH-4 |ICE-like apoptotic protease 4 |interleukin-1B-converting enzyme 2 |Fas-associated death domain protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5353 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=843[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053891 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032977 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032977 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5353 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26084 DBL|UNIGENE:Hs.5353 |OMIM:601762 |SNP:843 MAP|2q33-q34 PHP|Autoimmune lymphoproliferative syndrome, type II |Gastric cancer, somatic |Non-Hodgkin lymphoma, somatic HG|species == Mouse; gene == Casp8; score == 292; expect == 2.1e-79; MEOW:MGgn0001056 (38%) |species == rat; score == 287; expect == 1.0e-77; MEOW:ref|NP_071613.1| (38%) |species == Human; gene == CASP8; score == 280; expect == 1.3e-75; MEOW:HUgn0000841 (36%) |species == Zfish; gene == casp8; score == 247; expect == 4.7e-67; MEOW:ZFgn0000965 (37%) |species == Fruitfly; gene == Dcp-1; score == 149; expect == 2.6e-36; MEOW:FBgn0010501 (38%) |species == Mosquito; gene == LOC10319; score == 148; expect == 4.2e-36; MEOW:AGgn0010319 (37%) |species == Fruitfly; gene == Ice; score == 142; expect == 1.8e-34; MEOW:FBgn0019972 (37%) |species == Mosquito; gene == LOC15118; score == 135; expect == 2.5e-32; MEOW:AGgn0015118 (32%) } # EOR GENR { RETE|ID 1 HUgn0000844 CHR 1 1 DID 1 LocusLink:844 MAP 1 1q21 NAM 1 calsequestrin 1 (fast-twitch, skeletal muscle) ORG 1 Homo sapiens SYM 1 CASQ1 ID|HUgn0000844 DID|LocusLink:844 ORG|Homo sapiens RSQ|REFSEQ:NM_001231 RPA|REFPROT:NP_001222 DBA|XM:NM_001231 |NA:BC022289 |NA:BF574316 |NA:S73775 |NA:none PAC|XP:NP_001222 SYM|CASQ1 NAM|calsequestrin 1 (fast-twitch, skeletal muscle) SYN|CASQ |CALMITINE FNC|skeletal muscle calsequestrin 1 REAB|The protein encoded by this gene is a mitochondrial calcium-binding protein located |in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The |protein binds and putatively stores calcium ions. The protein is absent in patients |with Duchenne and Becker types of muscular dystrophy. CHR|1 PRD|Calsequestrin, fast-twitch, skeletal muscle-1 |calsequestrin 1, fast-twitch, skeletal muscle URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=60708 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=844[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125180 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001231 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001231 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=60708 DBL|UNIGENE:Hs.60708 |OMIM:114250 |SNP:844 MAP|1q21 ENZ|calcium ion storage activity ; GO:0005514 CEL|smooth endoplasmic reticulum ; GO:0005790 |mitochondrial matrix ; GO:0005759 HG|species == Mouse; gene == Casq1; score == 681; expect == 0.0; MEOW:MGgn0001059 (94%) |species == rat; score == 513; expect == 7e-146; MEOW:ref|NP_058827.1| (65%) |species == Human; gene == CASQ2; score == 512; expect == 1e-145; MEOW:HUgn0000845 (67%) } # EOR GENR { RETE|ID 1 HUgn0000845 CHR 1 1 DID 1 LocusLink:845 MAP 1 1p13.3-p11 NAM 1 calsequestrin 2 (cardiac muscle) ORG 1 Homo sapiens SYM 1 CASQ2 ID|HUgn0000845 DID|LocusLink:845 ORG|Homo sapiens RSQ|REFSEQ:NM_001232 RPA|REFPROT:NP_001223 DBA|XM:NM_001232 |NA:AK129891 |NA:BC022288 |NA:D55655 |NA:none PAC|XP:NP_001223 SYM|CASQ2 NAM|calsequestrin 2 (cardiac muscle) FNC|cardiac calsequestrin 2 |heart development ; GO:0007507 |striated muscle contraction ; GO:0006941 REAB|The protein encoded by this gene specifies the cardiac muscle family member of the |calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in |cardiac and slow skeletal muscle cells. The protein is a calcium binding protein |that stores calcium for muscle function. CHR|1 PRD|calsequestrin 2, cardiac muscle |calsequestrin 2, fast-twitch, cardiac muscle URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57975 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=845[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135684 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001232 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001232 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=57975 |http://www.geneclinics.org/query?mim=114251 DBL|UNIGENE:Hs.57975 |OMIM:114251 |SNP:845 MAP|1p13.3-p11 PHP|Ventricular tachycardia, stress-induced polymorphic ENZ|calcium ion storage activity ; GO:0005514 CEL|smooth endoplasmic reticulum ; GO:0005790 HG|species == rat; score == 689; expect == 0.0; MEOW:ref|NP_058827.1| (90%) |species == Mouse; gene == Casq2; score == 684; expect == 0.0; MEOW:MGgn0001060 (89%) |species == Human; gene == CASQ1; score == 512; expect == 1e-145; MEOW:HUgn0000844 (67%) } # EOR GENR { RETE|ID 1 HUgn0000846 CHR 1 3 DID 1 LocusLink:846 MAP 1 3q21-q24 NAM 1 calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ORG 1 Homo sapiens SYM 1 CASR ID|HUgn0000846 DID|LocusLink:846 ORG|Homo sapiens RSQ|REFSEQ:NM_000388 RPA|REFPROT:NP_000379 DBA|XM:NM_000388 |NA:X81086 |NA:D50855 |NA:S79217 |NA:S81755 |NA:S83176 |NA:U20759 |NA:U20760 |NA:W56898 |NA:none PAC|XP:NP_000379 SYM|CASR NAM|calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) SYN|FHH |HHC |HHC1 |NSHPT |PCAR1 |GPRC2A FNC|calcium-sensing receptor |calcium ion sensing ; GO:0005513 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |chemosensory behavior ; GO:0007635 |ossification ; GO:0001503 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |calcium ion homeostasis ; GO:0006874 |embryogenesis and morphogenesis ; GO:0007345 REAB|The calcium-sensing receptor (CASR) functions as a sensor for parathyroid and kidney |to determine the extracellular calcium concentration and thus helps to maintain |a stable calcium concentration. Mutations that inactivate CASR cause familial hypocalciuric |hypercalcemia, whereas mutations that activate CASR are the cause of autosomal dominant |hypocalcemia. An altenatively spliced transcript variant encoding 1088 aa has been |found for this gene, but its full-length nature has not been defined. CHR|3 PRD|parathyroid Ca(2+)-sensing receptor 1 |extracellular calcium-sensing receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=55327 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=846[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134196 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000388 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000388 |http://www.geneclinics.org/query?mim=601199 DBL|UNIGENE:Hs.55327 |OMIM:601199 |SNP:846 |UWCM:134196.html MAP|3q21-q24 PHP|Hyperparathyroidism, neonatal |Hypocalcemia, autosomal dominant |Hypocalcemia, autosomal dominant, with Bartter syndrome |Hypocalciuric hypercalcemia, type I ENZ|metabotropic glutamate, GABA-B-like receptor activity ; GO:0008067 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gprc2a; score == 1812; expect == 0.0; MEOW:MGgn0004913 (92%) |species == rat; score == 1805; expect == 0.0; MEOW:ref|NP_058692.1| (92%) |species == Human; gene == GPRC6A; score == 459; expect == 3e-129; MEOW:HUgn0222545 (33%) |species == Human; gene == GRM3; score == 394; expect == 2e-109; MEOW:HUgn0002913 (33%) |species == Human; gene == GRM4; score == 383; expect == 2e-106; MEOW:HUgn0002914 (31%) |species == Human; gene == TAS1R1; score == 383; expect == 3e-106; MEOW:HUgn0080835 (30%) |species == Human; gene == GRM2; score == 380; expect == 1e-105; MEOW:HUgn0002912 (30%) |species == Human; gene == GRM7; score == 377; expect == 1e-104; MEOW:HUgn0002917 (30%) |species == Human; gene == GRM5; score == 376; expect == 5e-104; MEOW:HUgn0002915 (29%) |species == Human; gene == GRM8; score == 373; expect == 2e-103; MEOW:HUgn0002918 (30%) |species == Fruitfly; gene == CG30361; score == 348; expect == 1.1e-95; MEOW:FBgn0050361 (29%) |species == Fruitfly; gene == Glu-RA; score == 340; expect == 1.5e-93; MEOW:FBgn0019985 (29%) |species == Worm; gene == mgl-1; score == 325; expect == 8.0e-89; MEOW:CEgn0001997 (28%) |species == Mosquito; score == 324; expect == 1.4e-88; MEOW:AGgn0003355 (28%) } # EOR GENR { RETE|ID 1 HUgn0000847 CHR 1 11 DID 1 LocusLink:847 MAP 1 11p13 NAM 1 catalase ORG 1 Homo sapiens SYM 1 CAT ID|HUgn0000847 DID|LocusLink:847 ORG|Homo sapiens RSQ|REFSEQ:NM_001752 RPA|REFPROT:NP_001743 DBA|XM:NM_001752 |NA:X04085 |NA:AY028632 |NA:BC027300 |NA:X04076 |NA:none PAC|XP:NP_001743 SYM|CAT NAM|catalase FNC|catalase |electron transport ; GO:0006118 |response to oxidative stress ; GO:0006979 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=395771 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=847[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119049 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001752 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001752 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=395771 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00680 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05030 DBL|UNIGENE:Hs.395771 |OMIM:115500 |SNP:847 ENZ|EC:1.11.1.6 |catalase activity ; GO:0004096 |peroxidase activity ; GO:0004601 |oxidoreductase activity ; GO:0016491 MAP|11p13 PHP|Acatalasemia CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1004; expect == 0.0; MEOW:ref|NP_036652.1| (88%) |species == Mouse; gene == Cat; score == 1003; expect == 0.0; MEOW:MGgn0001045 (88%) |species == Zfish; gene == cat; score == 875; expect == 0.0; MEOW:ZFgn0000718 (77%) |species == Fruitfly; gene == Cat; score == 701; expect == 0.0; MEOW:FBgn0000261 (66%) |species == Mosquito; score == 686; expect == 0.0; MEOW:AGgn0021298 (69%) |species == Worm; gene == ctl-2; score == 672; expect == 0.0; MEOW:CEgn0030541 (65%) |species == Worm; gene == Y54G11A.13; score == 643; expect == 0.0; MEOW:CEgn0030704 (62%) |species == Fruitfly; gene == CG9314; score == 619; expect == 6e-178; MEOW:FBgn0032061 (59%) |species == Yeast; gene == CTA1; score == 461; expect == 1e-130; MEOW:SGgn0002664 (49%) |species == Weed; gene == At1g20630; score == 396; expect == 2e-110; MEOW:ATgn0027332 (50%) |species == Weed; gene == At4g35090; score == 391; expect == 4e-109; MEOW:ATgn0019904 (44%) |species == rice; score == 387; expect == 1e-107; MEOW:gnl|TIGR|8360.m00287 (46%) |species == rice; score == 385; expect == 9e-107; MEOW:gnl|TIGR|8351.m00138 (50%) |species == rice; score == 381; expect == 1e-105; MEOW:gnl|TIGR|8354.m04773 (46%) |species == Weed; gene == At1g20620; score == 377; expect == 1e-104; MEOW:ATgn0027331 (48%) |species == Yeast; gene == CTT1; score == 369; expect == 3e-102; MEOW:SGgn0003320 (41%) |species == ecoli; score == 348; expect == 6.5e-97; MEOW:ref|NP_416246.1| (45%) } # EOR GENR { RETE|ID 1 HUgn0000848 DID 1 LocusLink:848 NAM 1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) ORG 1 Homo sapiens SYM 1 CATHL1 ID|HUgn0000848 DID|LocusLink:848 ORG|Homo sapiens SYM|CATHL1 NAM|cathelicidin 1 (cyclic dodecapeptide, bactenin 1) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230279 } # EOR GENR { RETE|ID 1 HUgn0000849 DID 1 LocusLink:849 NAM 1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1)-like ORG 1 Homo sapiens SYM 1 CATHL1L ID|HUgn0000849 DID|LocusLink:849 ORG|Homo sapiens SYM|CATHL1L NAM|cathelicidin 1 (cyclic dodecapeptide, bactenin 1)-like REAB|DISCONTINUED: This symbol was withdrawn by the Human Gene Nomenclature Committee. URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5365449 } # EOR GENR { RETE|ID 1 HUgn0000850 DID 1 LocusLink:850 NAM 1 cathelicidin 2 (bactenin 5) ORG 1 Homo sapiens SYM 1 CATHL2 ID|HUgn0000850 DID|LocusLink:850 ORG|Homo sapiens SYM|CATHL2 NAM|cathelicidin 2 (bactenin 5) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230280 } # EOR GENR { RETE|ID 1 HUgn0000851 DID 1 LocusLink:851 NAM 1 cathelicidin 3 (bactenin 7) ORG 1 Homo sapiens SYM 1 CATHL3 ID|HUgn0000851 DID|LocusLink:851 ORG|Homo sapiens SYM|CATHL3 NAM|cathelicidin 3 (bactenin 7) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230281 } # EOR GENR { RETE|ID 1 HUgn0000852 DID 1 LocusLink:852 NAM 1 cathelicidin 4 (indolicidin) ORG 1 Homo sapiens SYM 1 CATHL4 ID|HUgn0000852 DID|LocusLink:852 ORG|Homo sapiens SYM|CATHL4 NAM|cathelicidin 4 (indolicidin) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230282 } # EOR GENR { RETE|ID 1 HUgn0000853 DID 1 LocusLink:853 NAM 1 cathelicidin 5 ORG 1 Homo sapiens SYM 1 CATHL5 ID|HUgn0000853 DID|LocusLink:853 ORG|Homo sapiens SYM|CATHL5 NAM|cathelicidin 5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230283 } # EOR GENR { RETE|ID 1 HUgn0000854 DID 1 LocusLink:854 NAM 1 cathelicidin 6 ORG 1 Homo sapiens SYM 1 CATHL6 ID|HUgn0000854 DID|LocusLink:854 ORG|Homo sapiens SYM|CATHL6 NAM|cathelicidin 6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1230284 } # EOR GENR { RETE|ID 1 HUgn0000855 DID 1 LocusLink:855 NAM 1 cathelicidin pseudogene ORG 1 Homo sapiens SYM 1 CATHLP ID|HUgn0000855 DID|LocusLink:855 CLA|Pseudogene ORG|Homo sapiens SYM|CATHLP NAM|cathelicidin pseudogene REAB|DISCONTINUED: This symbol was withdrawn by the Human Gene Nomenclature Committee. URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5365448 } # EOR GENR { RETE|ID 1 HUgn0000856 CHR 1 7 DID 1 LocusLink:856 MAP 1 7q32 NAM 1 CATR tumorigenicity conversion 1 ORG 1 Homo sapiens SYM 1 CATR1 ID|HUgn0000856 DID|LocusLink:856 ORG|Homo sapiens DBA|NA:U25433 SYM|CATR1 NAM|CATR tumorigenicity conversion 1 CHR|7 PRD|CATR tumorigenic conversion 1 DBL|OMIM:600676 MAP|7q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:633071 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U25433 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U25433 } # EOR GENR { RETE|ID 1 HUgn0000857 CHR 1 7 DID 1 LocusLink:857 MAP 1 7q31.1 NAM 1 caveolin 1, caveolae protein, 22kDa ORG 1 Homo sapiens SYM 1 CAV1 ID|HUgn0000857 DID|LocusLink:857 ORG|Homo sapiens RSQ|REFSEQ:NM_001753 RPA|REFPROT:NP_001744 DBA|XM:NM_001753 |XM:NM_001753 |NA:AF019742 |NA:AF095591 |NA:AF095592 |NA:AF095593 |NA:AF125348 |NA:AJ133269 |NA:AI878826 |NA:BC006432 |NA:BC009685 |NA:Z18951 |NA:none PAC|XP:NP_001744 |XP:NP_001744 SYM|CAV1 NAM|caveolin 1, caveolae protein, 22kDa SYN|CAV |VIP21 FNC|caveolin 1 REAB|The scaffolding protein encoded by this gene is the main component of the caveolae |plasma membranes found in most cell types. The protein links integrin subunits to |the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK |pathway and promoting cell cycle progression. The gene is a tumor suppressor gene |candidate and a negative regulator of the Ras-p42/44 MAP kinase cascade. CAV1 and |CAV2 are located next to each other on chromosome 7 and express colocalizing proteins |that form a stable hetero-oligomeric complex. By using alternative initiation codons |in the same reading frame, two isoforms (alpha and beta) are encoded by a single |transcript from this gene. CHR|7 PRD|caveolae protein, 22-kD |caveolin 1, beta isoform |caveolin 1, alpha isoform |caveolin 1 caveolae protein, 22kD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74034 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=857[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136448 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001753 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001753 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74034 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.74034 |OMIM:601047 |SNP:857 MAP|7q31.1 ENZ|structural molecule activity ; GO:0005198 CEL|caveola ; GO:0005901 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cav; score == 357; expect == 1.4e-99; MEOW:MGgn0001070 (94%) |species == rat; score == 215; expect == 6.4e-57; MEOW:ref|NP_062028.1| (64%) |species == Human; gene == CAV3; score == 214; expect == 1.4e-56; MEOW:HUgn0000859 (64%) } # EOR GENR { RETE|ID 1 HUgn0000858 CHR 1 7 DID 1 LocusLink:858 MAP 1 7q31.1 NAM 1 caveolin 2 ORG 1 Homo sapiens SYM 1 CAV2 ID|HUgn0000858 DID|LocusLink:858 ORG|Homo sapiens RSQ|REFSEQ:NM_001233 |REFSEQ:NM_198212 RPA|REFPROT:NP_001224 |REFPROT:NP_937855 DBA|XM:NM_001233 |XM:NM_001233 |NA:AJ011300 |NA:AJ133269 |NA:AJ242718 |NA:AA878149 |NA:AA883287 |NA:AF035752 |NA:AI762868 |NA:AK024513 |NA:AV650449 |NA:AW022298 |NA:AY353255 |NA:BC005256 |NA:BM542127 |NA:BM762545 |NA:BT007051 |NA:BX350116 |NA:none PAC|XP:NP_001224 |XP:NP_001224 SYM|CAV2 NAM|caveolin 2 SYN|CAV |MGC12294 FNC|caveolin 2 isoform a and b |caveolin 2 isoform c REAB|The protein encoded by this gene is a major component of the inner surface of caveolae, |small invaginations of the plasma membrane, and is involved in essential cellular |functions, including signal transduction, lipid metabolism, cellular growth control |and apoptosis. This protein may function as a tumor suppressor. CAV1 and CAV2 are |located next to each other on chromosome 7 and express colocalizing proteins that |form a stable hetero-oligomeric complex. Two transcript variants encoding distinct |isoforms have been identified for this gene. By using alternative initiation codons |in the same reading frame, two isoforms (alpha and beta) are encoded by one transcript. CHR|7 PRD|caveolae protein, 20-kD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=139851 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=858[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835153 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001233 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001233 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=139851 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.139851 |OMIM:601048 |SNP:858 MAP|7q31.1 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cav2; score == 305; expect == 3.7e-84; MEOW:MGgn0001071 (90%) |species == rat; score == 302; expect == 4.5e-83; MEOW:ref|XP_343749.1| (89%) |species == rat; score == 302; expect == 4.5e-83; MEOW:ref|XP_346690.1| (89%) |species == rat; score == 302; expect == 4.5e-83; MEOW:ref|XP_347375.1| (89%) } # EOR GENR { RETE|ID 1 HUgn0000859 CHR 1 3 DID 1 LocusLink:859 MAP 1 3p25 NAM 1 caveolin 3 ORG 1 Homo sapiens SYM 1 CAV3 ID|HUgn0000859 DID|LocusLink:859 ORG|Homo sapiens RSQ|REFSEQ:NM_001234 |REFSEQ:NM_033337 RPA|REFPROT:NP_001225 |REFPROT:NP_203123 DBA|XM:NM_001234 |XM:NM_033337 |NA:AF036366 |NA:AF036367 |NA:AF204690 |NA:AA993189 |NA:AF036365 |NA:AF043101 |NA:BF310794 |NA:Y14747 |NA:none PAC|XP:NP_001225 |XP:NP_203123 SYM|CAV3 NAM|caveolin 3 SYN|VIP21 |LGMD1C |VIP-21 FNC|caveolin 3 |muscle development ; GO:0007517 REAB|This gene encodes a caveolin family member, which functions as a component of the |caveolae plasma membranes found in most cell types. Caveolin proteins are proposed |to be scaffolding proteins for organizing and concentrating certain caveolin-interacting |molecules. Mutations identified in this gene lead to interference with protein oligomerization |or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle |muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). |Alternative splicing has been identified for this locus, with inclusion or exclusion |of a differentially spliced intron. In addition, transcripts utilize multiple polyA |sites and contain two potential translation initiation sites. CHR|3 PRD|M-caveolin |caveolin-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=98303 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=859[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837402 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033337 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033337 |http://www.geneclinics.org/query?mim=601253 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.dmd.nl/cav3_home.html DBL|UNIGENE:Hs.98303 |OMIM:601253 |SNP:859 |UWCM:9837402.html MAP|3p25 PHP|Creatine phosphokinase, elevated serum |Muscular dystrophy, limb-girdle, type IC |Rippling muscle disease CEL|dystrophin-associated glycoprotein complex ; GO:0016010 |caveola ; GO:0005901 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cav3; score == 305; expect == 4.1e-84; MEOW:MGgn0001072 (95%) |species == rat; score == 305; expect == 4.7e-84; MEOW:ref|NP_062028.1| (95%) |species == Human; gene == CAV1; score == 214; expect == 1.4e-56; MEOW:HUgn0000857 (64%) } # EOR GENR { RETE|ID 1 HUgn0000860 CHR 1 6 DID 1 LocusLink:860 MAP 1 6p21 NAM 1 runt-related transcription factor 2 ORG 1 Homo sapiens SYM 1 RUNX2 ID|HUgn0000860 DID|LocusLink:860 ORG|Homo sapiens RSQ|REFSEQ:NM_004348 RPA|REFPROT:NP_004339 DBA|XM:NM_004348 |NA:AF001443 |NA:AF001444 |NA:AF001445 |NA:AF001446 |NA:AF001447 |NA:AF001448 |NA:AF001449 |NA:AF001450 |NA:AF053949 |NA:AF053952 |NA:L40992 |NA:none PAC|XP:NP_004339 SYM|RUNX2 NAM|runt-related transcription factor 2 SYN|CCD |AML3 |CCD1 |OSF2 |CBFA1 |PEBP2A1 |PEBP2A2 |PEBP2aA |PEBP2aA1 FNC|runt-related transcription factor 2 |ossification ; GO:0001503 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|6 PRD|cleidocranial dysplasia 1 |core-binding factor, runt domain, alpha subunit 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=122116 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=509746 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=860[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392082 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004348 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004348 |http://www.geneclinics.org/query?mim=600211 DBL|UNIGENE:Hs.122116 |UNIGENE:Hs.509746 |OMIM:600211 |SNP:860 MAP|6p21 PHP|Cleidocranial dysplasia |Dental anomalies, isolated ENZ|ATP binding ; GO:0005524 |RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Runx2; score == 824; expect == 0.0; MEOW:MGgn0001074 (97%) |species == Human; gene == RUNX1; score == 528; expect == 3e-150; MEOW:HUgn0000861 (58%) |species == rat; score == 524; expect == 4e-149; MEOW:ref|NP_059021.1| (58%) |species == Zfish; gene == runx1; score == 454; expect == 3e-128; MEOW:ZFgn0000953 (53%) |species == Zfish; gene == runx3; score == 419; expect == 2e-117; MEOW:ZFgn0000855 (49%) |species == Fruitfly; gene == CG1379; score == 212; expect == 2.0e-55; MEOW:FBgn0031124 (74%) |species == Fruitfly; gene == CG15455; score == 202; expect == 2.4e-52; MEOW:FBgn0031121 (72%) |species == Fruitfly; gene == lz; score == 193; expect == 1.7e-49; MEOW:FBgn0002576 (76%) |species == Fruitfly; gene == run; score == 181; expect == 1.1e-45; MEOW:FBgn0003300 (67%) |species == Mosquito; gene == LOC22044; score == 156; expect == 2.1e-38; MEOW:AGgn0022044 (75%) |species == Mosquito; score == 154; expect == 6.2e-38; MEOW:AGgn0000623 (75%) |species == Mosquito; gene == LOC14116; score == 152; expect == 2.4e-37; MEOW:AGgn0014116 (66%) } # EOR GENR { RETE|ID 1 HUgn0000861 CHR 1 21 DID 1 LocusLink:861 MAP 1 21q22.3 NAM 1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) ORG 1 Homo sapiens SYM 1 RUNX1 ID|HUgn0000861 DID|LocusLink:861 ORG|Homo sapiens RSQ|REFSEQ:NM_001754 RPA|REFPROT:NP_001745 DBA|XM:NM_001754 |NA:D10570 |NA:D43967 |NA:D43968 |NA:D43969 |NA:D89788 |NA:D89789 |NA:D89790 |NA:L34598 |NA:U19601 |NA:X79549 |NA:X90976 |NA:X90978 |NA:none PAC|XP:NP_001745 SYM|RUNX1 NAM|runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) SYN|AML1 |CBFA2 |AMLCR1 |PEBP2A2 |PEBP2aB FNC|runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|21 PRD|aml1 oncogene |acute myeloid leukemia 1 protein (oncogene AML-1), core-binding factor, alpha subunit |core-binding factor, runt domain, alpha subunit 2 (acute myeloid leukemia 1; aml1 oncogene) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410774 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=861[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128313 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001754 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001754 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA34884 DBL|UNIGENE:Hs.410774 |OMIM:151385 |SNP:861 MAP|21q22.3 PHP|Leukemia, acute myeloid |Platelet disorder, familial, with associated myeloid malignancy ENZ|ATP binding ; GO:0005524 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 776; expect == 0.0; MEOW:ref|NP_059021.1| (95%) |species == Zfish; gene == runx1; score == 595; expect == 1e-170; MEOW:ZFgn0000953 (69%) |species == Mouse; gene == Runx1; score == 548; expect == 2e-156; MEOW:MGgn0001075 (69%) |species == Human; gene == RUNX2; score == 528; expect == 3e-150; MEOW:HUgn0000860 (58%) |species == Mouse; gene == Runx2; score == 523; expect == 4e-149; MEOW:MGgn0001074 (55%) |species == Mouse; gene == Runx3; score == 459; expect == 2e-129; MEOW:MGgn0001080 (56%) |species == Human; gene == RUNX3; score == 456; expect == 1e-128; MEOW:HUgn0000864 (56%) |species == Fruitfly; gene == CG1379; score == 215; expect == 2.2e-56; MEOW:FBgn0031124 (74%) |species == Fruitfly; gene == CG15455; score == 204; expect == 6.4e-53; MEOW:FBgn0031121 (73%) |species == Fruitfly; gene == lz; score == 198; expect == 1.2e-50; MEOW:FBgn0002576 (64%) |species == Fruitfly; gene == run; score == 194; expect == 4.1e-50; MEOW:FBgn0003300 (39%) |species == Mosquito; gene == LOC14116; score == 159; expect == 1.4e-39; MEOW:AGgn0014116 (71%) |species == Mosquito; score == 157; expect == 5.3e-39; MEOW:AGgn0000623 (75%) |species == Mosquito; gene == LOC22044; score == 157; expect == 6.9e-39; MEOW:AGgn0022044 (75%) } # EOR GENR { RETE|ID 1 HUgn0000862 CHR 1 8 DID 1 LocusLink:862 MAP 1 8q22 NAM 1 core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related ORG 1 Homo sapiens SYM 1 CBFA2T1 ID|HUgn0000862 DID|LocusLink:862 ORG|Homo sapiens RSQ|REFSEQ:NM_004349 |REFSEQ:NM_175634 |REFSEQ:NM_175635 |REFSEQ:NM_175636 RPA|REFPROT:NP_004340 |REFPROT:NP_783552 |REFPROT:NP_783553 |REFPROT:NP_783554 DBA|XM:NM_004349 |XM:NM_175634 |XM:NM_175635 |XM:NM_175636 |NA:AF018280 |NA:AF018282 |NA:AF198490 |NA:S74096 |NA:AA506749 |NA:AF018283 |NA:BC005850 |NA:BT009871 |NA:D14289 |NA:D14821 |NA:D43638 |NA:X79990 |NA:none PAC|XP:NP_004340 |XP:NP_783552 |XP:NP_783553 |XP:NP_783554 SYM|CBFA2T1 NAM|core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related SYN|CDR |ETO |MTG8 |AML1T1 |ZMYND2 |MGC2796 FNC|acute myelogenous leukemia 1 translocation 1 protein isoform MTG8a |acute myelogenous leukemia 1 translocation 1 protein isoform MTG8b |acute myelogenous leukemia 1 translocation 1 protein isoform MTG8c |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |energy pathways ; GO:0006091 REAB|The protein encoded by this gene is a putative zinc finger transcription factor and |oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) |translocation is one of the most frequent karyotypic abnormalities. The translocation |produces a chimeric gene made up of the 5'-region of the RUNX1 gene fused to the |3'-region of this gene. The chimeric protein is thought to associate with the nuclear |corepressor/histone deacetylase complex to block hematopoietic differentiation. |Several transcript variants encoding multiple isoforms have been found for this |gene. CHR|8 PRD|eight twenty one protein |myeloid translocation gene on 8q22 |acute myelogenous leukemia 1 translocation 1, cyclin-D related URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90858 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=862[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138279 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004349 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004349 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=90858 DBL|UNIGENE:Hs.90858 |OMIM:133435 |SNP:862 MAP|8q22 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cbfa2t1h; score == 988; expect == 0.0; MEOW:MGgn0001076 (99%) |species == rat; score == 839; expect == 0.0; MEOW:ref|XP_342809.1| (95%) |species == Mouse; gene == Cbfa2t3h; score == 792; expect == 0.0; MEOW:MGgn0001079 (74%) |species == rat; score == 786; expect == 0.0; MEOW:ref|XP_341710.1| (74%) |species == Human; gene == CBFA2T3; score == 774; expect == 0.0; MEOW:HUgn0000863 (70%) |species == Human; gene == CBFA2T2; score == 714; expect == 0.0; MEOW:HUgn0009139 (68%) |species == Mosquito; score == 233; expect == 2.5e-61; MEOW:AGgn0018220 (35%) } # EOR GENR { RETE|ID 1 HUgn0000863 CHR 1 16 DID 1 LocusLink:863 MAP 1 16q24 NAM 1 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 ORG 1 Homo sapiens SYM 1 CBFA2T3 ID|HUgn0000863 DID|LocusLink:863 ORG|Homo sapiens RSQ|REFSEQ:NM_005187 |REFSEQ:NM_175931 RPA|REFPROT:NP_005178 |REFPROT:NP_787127 DBA|XM:NM_005187 |XM:NM_175931 |NA:AB013286 |NA:AF052213 |NA:AF052214 |NA:AF052215 |NA:AF052216 |NA:AF052217 |NA:AB010419 |NA:AB010420 |NA:AF052220 |NA:AK090985 |NA:AK097904 |NA:BC009554 |NA:BE243049 |NA:BE676580 PAC|XP:NP_005178 |XP:NP_787127 SYM|CBFA2T3 NAM|core-binding factor, runt domain, alpha subunit 2; translocated to, 3 SYN|MTG16 |MTGR2 |ZMYND4 FNC|myeloid translocation gene-related protein 2 isoform MTG16a |myeloid translocation gene-related protein 2 isoform MTG16b |cell proliferation ; GO:0008283 REAB|The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality |associated with therapy-related myeloid malignancies. The translocation produces |a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region |of this gene. In addition, this gene is a putative breast tumor suppressor. Two |transcript variants encoding different isoforms have been found for this gene, and |a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms |has been demonstrated in the Golgi apparatus. CHR|16 PRD|MTG8-related gene 2 |myeloid translocation gene on chromosome 16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=110099 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=863[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864258 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005187 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005187 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26113 DBL|UNIGENE:Hs.110099 |OMIM:603870 |SNP:863 MAP|16q24 ENZ|transcription factor activity ; GO:0003700 HG|species == Mouse; gene == Cbfa2t3h; score == 1004; expect == 0.0; MEOW:MGgn0001079 (88%) |species == rat; score == 991; expect == 0.0; MEOW:ref|XP_341710.1| (90%) |species == Human; gene == CBFA2T1; score == 774; expect == 0.0; MEOW:HUgn0000862 (70%) |species == Human; gene == CBFA2T2; score == 646; expect == 0.0; MEOW:HUgn0009139 (57%) |species == Mosquito; score == 238; expect == 4.5e-63; MEOW:AGgn0018220 (36%) } # EOR GENR { RETE|ID 1 HUgn0000864 CHR 1 1 DID 1 LocusLink:864 MAP 1 1p36 NAM 1 runt-related transcription factor 3 ORG 1 Homo sapiens SYM 1 RUNX3 ID|HUgn0000864 DID|LocusLink:864 ORG|Homo sapiens RSQ|REFSEQ:NM_004350 RPA|REFPROT:NP_004341 DBA|XM:NM_004350 |NA:AJ238394 |NA:U14520 |NA:BC013362 |NA:X79550 |NA:Z35278 |NA:none PAC|XP:NP_004341 SYM|RUNX3 NAM|runt-related transcription factor 3 SYN|AML2 |CBFA3 |PEBP2aC FNC|runt-related transcription factor 3 |regulation of transcription, DNA-dependent ; GO:0006355 |cell proliferation ; GO:0008283 CHR|1 PRD|core-binding factor, runt domain, alpha subunit 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170019 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=864[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392081 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004350 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004350 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170019 DBL|UNIGENE:Hs.170019 |OMIM:600210 |SNP:864 MAP|1p36 ENZ|ATP binding ; GO:0005524 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Runx3; score == 750; expect == 0.0; MEOW:MGgn0001080 (91%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_569109.1| (91%) |species == Zfish; gene == runx3; score == 492; expect == 2e-139; MEOW:ZFgn0000855 (64%) |species == Human; gene == RUNX1; score == 456; expect == 1e-128; MEOW:HUgn0000861 (56%) |species == Human; gene == RUNX2; score == 411; expect == 3e-115; MEOW:HUgn0000860 (55%) |species == Zfish; gene == runx1; score == 404; expect == 2e-114; MEOW:ZFgn0000953 (54%) |species == Fruitfly; gene == CG1379; score == 211; expect == 4.6e-55; MEOW:FBgn0031124 (73%) |species == Fruitfly; gene == CG15455; score == 201; expect == 3.7e-52; MEOW:FBgn0031121 (67%) |species == Fruitfly; gene == lz; score == 188; expect == 1.2e-47; MEOW:FBgn0002576 (63%) |species == Fruitfly; gene == run; score == 187; expect == 5.5e-48; MEOW:FBgn0003300 (34%) |species == Mosquito; gene == LOC14116; score == 156; expect == 2.7e-39; MEOW:AGgn0014116 (68%) |species == Mosquito; score == 155; expect == 2.2e-38; MEOW:AGgn0000623 (77%) |species == Mosquito; gene == LOC22044; score == 154; expect == 4.9e-38; MEOW:AGgn0022044 (75%) } # EOR GENR { RETE|ID 1 HUgn0000865 CHR 1 16 DID 1 LocusLink:865 MAP 1 16q22.1 NAM 1 core-binding factor, beta subunit ORG 1 Homo sapiens SYM 1 CBFB ID|HUgn0000865 DID|LocusLink:865 ORG|Homo sapiens RSQ|REFSEQ:NM_001755 |REFSEQ:NM_022845 RPA|REFPROT:NP_001746 |REFPROT:NP_074036 DBA|XM:NM_001755 |XM:NM_022845 |NA:AA020956 |NA:AF294326 |NA:BC018509 |NA:L20298 PAC|XP:NP_001746 |XP:NP_074036 SYM|CBFB NAM|core-binding factor, beta subunit SYN|PEBP2B FNC|core-binding factor, beta subunit isoform 1 |core-binding factor, beta subunit isoform 2 |oncogenesis ; GO:0007048 |transcription from Pol II promoter ; GO:0006366 REAB|The protein encoded by this gene is the beta subunit of a heterodimeric core-binding |transcription factor belonging to the PEBP2/CBF transcription factor family which |master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis |(e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically |enhances DNA binding by alpha subunit as the complex binds to the core site of various |enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, |T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two |mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric |inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting |of the N terminus of core-binding factor beta in a fusion with the C-terminal portion |of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated |with acute myeloid leukemia of the M4Eo subtype. CHR|16 PRD|SL3-3 enhancer factor 1 beta subunit |SL3/AKV core-binding factor beta subunit |polyomavirus enhancer binding protein 2, beta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=179881 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=865[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250571 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001755 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001755 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.18 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=179881 DBL|UNIGENE:Hs.179881 |OMIM:121360 |SNP:865 MAP|16q22.1 PHP|Myeloid leukemia, acute, M4Eo subtype ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 HG|species == rat; score == 318; expect == 1.0e-87; MEOW:ref|XP_341671.1| (98%) |species == Mouse; gene == Cbfb; score == 296; expect == 2.8e-81; MEOW:MGgn0001081 (95%) |species == Mosquito; gene == LOC14889; score == 184; expect == 4.0e-47; MEOW:AGgn0014889 (48%) |species == Fruitfly; gene == Bgb; score == 183; expect == 6.8e-47; MEOW:FBgn0013753 (52%) |species == Fruitfly; gene == Bro; score == 164; expect == 1.1e-41; MEOW:FBgn0013755 (56%) } # EOR GENR { RETE|ID 1 HUgn0000866 CHR 1 14 DID 1 LocusLink:866 MAP 1 14q32.1 NAM 1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 ORG 1 Homo sapiens SYM 1 SERPINA6 ID|HUgn0000866 DID|LocusLink:866 ORG|Homo sapiens RSQ|REFSEQ:NM_001756 RPA|REFPROT:NP_001747 DBA|XM:NM_001756 |NA:M31662 |NA:BC056259 |NA:BC058021 |NA:J02943 |NA:none PAC|XP:NP_001747 SYM|SERPINA6 NAM|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 SYN|CBG FNC|corticosteroid binding globulin precursor |transport ; GO:0006810 REAB|Corticosteroid-binding globulin, otherwise known as transcortin, is an alpha-globulin. | CBG localizes to a region containing two closely related serine protease inhibitors |which may have evolved by duplication events. CHR|14 PRD|corticosteroid binding globulin |alpha-1 antiproteinase, antitrypsin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1305 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=866[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127865 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001756 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001756 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1305 DBL|UNIGENE:Hs.1305 |OMIM:122500 |SNP:866 MAP|14q32.1 PHP|Transcortin deficiency ENZ|steroid binding ; GO:0005496 |serpin ; GO:0004868 |serine protease inhibitor activity ; GO:0004867 HG|species == rat; score == 479; expect == 9e-136; MEOW:ref|XP_216777.2| (60%) |species == Mouse; gene == Serpina6; score == 441; expect == 3e-124; MEOW:MGgn0001082 (58%) |species == Human; gene == SERPINA4; score == 319; expect == 1.5e-87; MEOW:HUgn0005267 (45%) |species == Human; gene == SERPINA1; score == 318; expect == 2.6e-87; MEOW:HUgn0005265 (45%) |species == Human; gene == SERPINA5; score == 300; expect == 9.5e-82; MEOW:HUgn0005104 (43%) |species == Human; gene == SERPINA3; score == 296; expect == 1.8e-80; MEOW:HUgn0000012 (44%) |species == Human; gene == SERPINA7; score == 294; expect == 5.2e-80; MEOW:HUgn0006906 (41%) |species == Human; gene == LOC256394; score == 287; expect == 6.4e-78; MEOW:HUgn0256394 (40%) |species == Human; gene == SERPINA11; score == 266; expect == 1.0e-71; MEOW:HUgn0327657 (46%) |species == Human; gene == OL-64; score == 262; expect == 2.9e-70; MEOW:HUgn0145264 (34%) |species == Mosquito; score == 165; expect == 2.1e-41; MEOW:AGgn0015833 (28%) |species == Mosquito; gene == LOC22846; score == 165; expect == 2.7e-41; MEOW:AGgn0022846 (29%) |species == Mosquito; gene == LOC23182; score == 163; expect == 1.0e-40; MEOW:AGgn0023182 (29%) |species == Mosquito; gene == LOC23448; score == 163; expect == 7.8e-41; MEOW:AGgn0023448 (29%) |species == Fruitfly; gene == Spn6; score == 157; expect == 5.9e-39; MEOW:FBgn0028983 (29%) |species == Fruitfly; gene == Spn43Aa; score == 154; expect == 6.5e-38; MEOW:FBgn0024294 (30%) |species == Fruitfly; gene == Spn4; score == 147; expect == 6.1e-36; MEOW:FBgn0028985 (28%) |species == Fruitfly; gene == Spn1; score == 140; expect == 9.7e-34; MEOW:FBgn0028988 (28%) |species == Fruitfly; gene == Spn27A; score == 132; expect == 2.6e-31; MEOW:FBgn0028990 (25%) |species == Fruitfly; gene == CG9460; score == 132; expect == 2.0e-31; MEOW:FBgn0033115 (28%) |species == Zfish; gene == hsp47; score == 130; expect == 8.9e-32; MEOW:ZFgn0000260 (25%) } # EOR GENR { RETE|ID 1 HUgn0000867 CHR 1 11 DID 1 LocusLink:867 MAP 1 11q23.3 NAM 1 Cas-Br-M (murine) ecotropic retroviral transforming sequence ORG 1 Homo sapiens SYM 1 CBL ID|HUgn0000867 DID|LocusLink:867 ORG|Homo sapiens RSQ|REFSEQ:NM_005188 RPA|REFPROT:NP_005179 DBA|XM:NM_005188 |NA:X57110 |NA:X69207 |NA:none PAC|XP:NP_005179 SYM|CBL NAM|Cas-Br-M (murine) ecotropic retroviral transforming sequence SYN|CBL2 |C-CBL |RNF55 FNC|Cas-Br-M (murine) ecotropic retroviral transforming sequence |cell growth and/or maintenance ; GO:0008151 |cell surface receptor linked signal transduction ; GO:0007166 REAB|The cbl oncogene was first identified as part of a transforming retrovirus which |induces mouse pre-B and pro-B cell lymphomas. As an adaptor protein for receptor |protein-tyrosine kinases, it positively regulates receptor protein-tyrosine kinase |ubiquitination in a manner dependent upon its variant SH2 and RING finger domains. |Ubiquitination of receptor protein-tyrosine kinases terminates signaling by marking |active receptors for degradation. CHR|11 PRD|Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=41324 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=867[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119753 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005188 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005188 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 DBL|UNIGENE:Hs.41324 |OMIM:165360 |SNP:867 MAP|11q23.3 ENZ|signal transducer activity ; GO:0004871 |transcription factor activity ; GO:0003700 |ligase activity ; GO:0016874 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cbl; score == 1514; expect == 0.0; MEOW:MGgn0001083 (88%) |species == Human; gene == CBLB; score == 734; expect == 0.0; MEOW:HUgn0000868 (70%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_598285.1| (70%) |species == Mosquito; score == 620; expect == 5e-178; MEOW:AGgn0025702 (72%) |species == Fruitfly; gene == Cbl; score == 619; expect == 2e-177; MEOW:FBgn0020224 (74%) |species == Worm; gene == sli-1; score == 453; expect == 1e-127; MEOW:CEgn0002551 (54%) } # EOR GENR { RETE|ID 1 HUgn0000868 CHR 1 3 DID 1 LocusLink:868 MAP 1 3q13.11-q13.12 NAM 1 Cas-Br-M (murine) ecotropic retroviral transforming sequence b ORG 1 Homo sapiens SYM 1 CBLB ID|HUgn0000868 DID|LocusLink:868 ORG|Homo sapiens RSQ|REFSEQ:NM_170662 RPA|REFPROT:NP_733762 DBA|XM:NM_170662 |NA:BC032851 |NA:U26710 |NA:U26711 |NA:U26712 |NA:none PAC|XP:NP_733762 SYM|CBLB NAM|Cas-Br-M (murine) ecotropic retroviral transforming sequence b SYN|RNF56 FNC|Cas-Br-M (murine) ecotropic retroviral transforming sequence b CHR|3 PRD|Cas-Br-M (murine) ectropic retroviral transforming sequence b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=868[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:638800 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_170662 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_170662 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436986 DBL|UNIGENE:Hs.436986 |OMIM:604491 |SNP:868 MAP|3q13.11-q13.12 HG|species == rat; score == 1595; expect == 0.0; MEOW:ref|NP_598285.1| (90%) |species == Human; gene == CBL; score == 734; expect == 0.0; MEOW:HUgn0000867 (70%) |species == Mouse; gene == Cbl; score == 723; expect == 0.0; MEOW:MGgn0001083 (47%) |species == Fruitfly; gene == Cbl; score == 620; expect == 4e-178; MEOW:FBgn0020224 (72%) |species == Mosquito; score == 618; expect == 2e-177; MEOW:AGgn0025702 (70%) |species == Worm; gene == sli-1; score == 458; expect == 4e-129; MEOW:CEgn0002551 (56%) } # EOR GENR { RETE|ID 1 HUgn0000869 CHR 1 16 DID 1 LocusLink:869 MAP 1 16q12.1 NAM 1 cerebellin 1 precursor ORG 1 Homo sapiens SYM 1 CBLN1 ID|HUgn0000869 DID|LocusLink:869 ORG|Homo sapiens RSQ|REFSEQ:NM_004352 RPA|REFPROT:NP_004343 DBA|XM:NM_004352 |NA:M58583 |NA:none PAC|XP:NP_004343 SYM|CBLN1 NAM|cerebellin 1 precursor FNC|cerebellin 1 precursor |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 REAB|Precerebellin is similar to the noncollagen domain of complement component C1qB. |It gives rise to several truncated derivatives, including the hexadecapeptide cerebellin |which is highly enriched in postsynaptic structures of cerebellar Purkinje cells |in cartwheel neurons of the dorsal cochlear nucleus. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458423 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=869[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:456143 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004352 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004352 DBL|UNIGENE:Hs.458423 |OMIM:600432 |SNP:869 MAP|16q12.1 CEL|membrane ; GO:0016020 |synaptosome ; GO:0019717 HG|species == Mouse; gene == Cbln2; score == 292; expect == 1.1e-79; MEOW:MGgn0001086 (84%) |species == rat; score == 291; expect == 2.5e-79; MEOW:ref|XP_225659.2| (83%) |species == Human; gene == LOC147381; score == 290; expect == 2.5e-79; MEOW:HUgn0147381 (84%) |species == Mouse; gene == Cbln4; score == 270; expect == 3.1e-73; MEOW:MGgn0043124 (75%) |species == Human; gene == CBLNL1; score == 269; expect == 6.0e-73; MEOW:HUgn0140689 (75%) } # EOR GENR { RETE|ID 1 HUgn0000870 CHR 1 18 DID 1 LocusLink:870 MAP 1 18q22.2 NAM 1 cerebellin 2 precursor ORG 1 Homo sapiens SYM 1 CBLN2 ID|HUgn0000870 DID|LocusLink:870 ORG|Homo sapiens SYM|CBLN2 NAM|cerebellin 2 precursor CHR|18 DBL|OMIM:600433 MAP|18q22.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:456144 } # EOR GENR { RETE|ID 1 HUgn0000871 CHR 1 11 DID 1 LocusLink:871 MAP 1 11q13.5 NAM 1 serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) ORG 1 Homo sapiens SYM 1 SERPINH1 ID|HUgn0000871 DID|LocusLink:871 ORG|Homo sapiens RSQ|REFSEQ:NM_001235 RPA|REFPROT:NP_001226 DBA|XM:NM_001235 |NA:AB044780 |NA:AB044781 |NA:AB044778 |NA:AB044779 |NA:AI926019 |NA:AK075504 |NA:AK122936 |NA:AK130870 |NA:BC014623 |NA:BC036298 |NA:BT007094 |NA:CB123399 |NA:D83174 |NA:X61598 |NA:none PAC|XP:NP_001226 SYM|SERPINH1 NAM|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) SYN|CBP1 |CBP2 |gp46 |HSP47 |RA-A47 |SERPINH2 FNC|serine (or cysteine) proteinase inhibitor, clade H, member 1 precursor |heat shock response ; GO:0006951 REAB|This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. |Its expression is induced by heat shock. The protein localizes to the endoplasmic |reticulum lumen and binds collagen; thus it is thought to be a molecular chaperone |involved in the maturation of collagen molecules. Autoantibodies to this protein |have been found in patients with rheumatoid arthritis. CHR|11 PRD|colligin-1 |colligin-2 |heat shock protein 47 |collagen-binding protein 1 |collagen-binding protein 2 |rheumatoid arthritis antigen A-47 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=241579 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=871[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568495 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129094 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001235 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001235 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=241579 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA35034 DBL|UNIGENE:Hs.241579 |OMIM:600943 |SNP:871 MAP|11q13.5 HG|species == Mouse; gene == Serpinh1; score == 719; expect == 0.0; MEOW:MGgn0001087 (94%) |species == rat; score == 694; expect == 0.0; MEOW:ref|XP_346549.1| (95%) |species == Zfish; gene == hsp47; score == 552; expect == 1e-157; MEOW:ZFgn0000260 (64%) |species == Human; gene == SERPINB1; score == 162; expect == 2.5e-40; MEOW:HUgn0001992 (29%) |species == Human; gene == SERPINB8; score == 158; expect == 6.1e-39; MEOW:HUgn0005271 (30%) |species == Human; gene == SERPINB9; score == 157; expect == 1.0e-38; MEOW:HUgn0005272 (29%) |species == Human; gene == SERPINB6; score == 152; expect == 4.4e-37; MEOW:HUgn0005269 (29%) |species == Human; gene == SERPINB10; score == 150; expect == 1.7e-36; MEOW:HUgn0005273 (28%) |species == Human; gene == SERPINB12; score == 150; expect == 1.7e-36; MEOW:HUgn0089777 (28%) |species == Human; gene == SERPINB3; score == 141; expect == 1.0e-33; MEOW:HUgn0006317 (27%) |species == Human; gene == SERPINA5; score == 139; expect == 2.2e-33; MEOW:HUgn0005104 (28%) |species == Human; gene == SERPINB2; score == 136; expect == 2.5e-32; MEOW:HUgn0005055 (28%) } # EOR GENR { RETE|ID 1 HUgn0000873 CHR 1 21 DID 1 LocusLink:873 MAP 1 21q22.13 NAM 1 carbonyl reductase 1 ORG 1 Homo sapiens SYM 1 CBR1 ID|HUgn0000873 DID|LocusLink:873 ORG|Homo sapiens RSQ|REFSEQ:NM_001757 RPA|REFPROT:NP_001748 DBA|XM:NM_001757 |NA:AB003151 |NA:M62420 |NA:BC002511 |NA:BC015640 |NA:J04056 |NA:none PAC|XP:NP_001748 SYM|CBR1 NAM|carbonyl reductase 1 SYN|CBR FNC|carbonyl reductase 1 |metabolism ; GO:0008152 REAB|Carbonyl reductase is one of several monomeric, NADPH-dependent oxidoreductases having |wide specificity for carbonyl compounds. The enzyme is widely distributed in human |tissues. This gene is closely linked to another carbonyl reductase gene, the CBR3 |gene. The location of the gene near the SOD1 gene and the increased enzyme activity |and potential for free radical modulation in trisomy 21 cells implicate CBR1 as |a candidate for contributing to the pathology of Down syndrome. CHR|21 PRD|carbonyl reductase (NADPH) |carbonyl reductase (NADPH) 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=88778 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=873[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126610 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001757 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001757 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=88778 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 DBL|UNIGENE:Hs.88778 |OMIM:114830 |SNP:873 ENZ|EC:1.1.1.184 |EC:1.1.1.189 |EC:1.1.1.197 |carbonyl reductase (NADPH) activity ; GO:0004090 |oxidoreductase activity ; GO:0016491 |15-hydroxyprostaglandin dehydrogenase (NADP) activity ; GO:0047021 |prostaglandin-E2 9-reductase activity ; GO:0050221 MAP|21q22.13 CEL|cytosol ; GO:0005829 HG|species == rat; score == 480; expect == 4e-136; MEOW:ref|NP_062043.1| (85%) |species == Mouse; gene == Cbr1; score == 477; expect == 2e-135; MEOW:MGgn0001089 (86%) |species == Mouse; gene == Cbr3; score == 420; expect == 2e-118; MEOW:MGgn0001091 (74%) |species == rat; score == 417; expect == 2e-117; MEOW:ref|XP_221641.2| (73%) |species == Human; gene == CBR3; score == 406; expect == 7e-114; MEOW:HUgn0000874 (71%) |species == rat; score == 400; expect == 4e-112; MEOW:ref|XP_340973.1| (75%) |species == Weed; gene == At5g61830; score == 175; expect == 2.1e-44; MEOW:ATgn0021731 (37%) |species == rice; score == 175; expect == 4.6e-44; MEOW:gnl|TIGR|8352.m03841 (40%) |species == Weed; gene == At5g51030; score == 167; expect == 4.4e-42; MEOW:ATgn0024485 (36%) |species == rice; score == 161; expect == 4.0e-40; MEOW:gnl|TIGR|8350.m06598 (36%) |species == rice; score == 159; expect == 3.4e-39; MEOW:gnl|TIGR|8351.m03730 (38%) |species == Weed; gene == At3g61220; score == 152; expect == 2.5e-37; MEOW:ATgn0014062 (36%) |species == Weed; gene == At3g59710; score == 150; expect == 1.1e-36; MEOW:ATgn0013045 (35%) |species == Weed; gene == At2g24190; score == 145; expect == 3.1e-35; MEOW:ATgn0008073 (34%) |species == Weed; gene == At1g01800; score == 142; expect == 2.6e-34; MEOW:ATgn0002428 (34%) } # EOR GENR { RETE|ID 1 HUgn0000874 CHR 1 21 DID 1 LocusLink:874 MAP 1 21q22.2 NAM 1 carbonyl reductase 3 ORG 1 Homo sapiens SYM 1 CBR3 ID|HUgn0000874 DID|LocusLink:874 ORG|Homo sapiens RSQ|REFSEQ:NM_001236 RPA|REFPROT:NP_001227 DBA|XM:NM_001236 |NA:AB003151 |NA:AB004854 |NA:BC002812 |NA:none PAC|XP:NP_001227 SYM|CBR3 NAM|carbonyl reductase 3 FNC|carbonyl reductase 3 |metabolism ; GO:0008152 REAB|Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and |pharmacologically active carbonyl compounds to their corresponding alcohols. The |enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains |three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase |gene - CBR1. CHR|21 PRD|carbonyl reductase (NADPH) 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154510 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=874[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9785817 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001236 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001236 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00590 DBL|UNIGENE:Hs.154510 |OMIM:603608 |SNP:874 ENZ|EC:1.1.1.184 |carbonyl reductase (NADPH) activity ; GO:0004090 |oxidoreductase activity ; GO:0016491 MAP|21q22.2 CEL|cytosol ; GO:0005829 HG|species == rat; score == 474; expect == 2e-134; MEOW:ref|XP_221641.2| (84%) |species == Mouse; gene == Cbr3; score == 472; expect == 1e-133; MEOW:MGgn0001091 (85%) |species == Human; gene == CBR1; score == 406; expect == 7e-114; MEOW:HUgn0000873 (71%) |species == Mouse; gene == Cbr1; score == 389; expect == 5e-109; MEOW:MGgn0001089 (69%) |species == rat; score == 383; expect == 5e-107; MEOW:ref|NP_062043.1| (68%) |species == rice; score == 169; expect == 2.5e-42; MEOW:gnl|TIGR|8352.m03841 (42%) |species == Weed; gene == At5g61830; score == 168; expect == 3.4e-42; MEOW:ATgn0021731 (41%) |species == rice; score == 162; expect == 1.8e-40; MEOW:gnl|TIGR|8350.m06598 (40%) |species == rice; score == 162; expect == 5.3e-40; MEOW:gnl|TIGR|8351.m03730 (43%) |species == Weed; gene == At5g51030; score == 154; expect == 3.9e-38; MEOW:ATgn0024485 (37%) |species == Weed; gene == At3g61220; score == 142; expect == 2.6e-34; MEOW:ATgn0014062 (35%) |species == Weed; gene == At1g01800; score == 140; expect == 7.6e-34; MEOW:ATgn0002428 (35%) |species == Weed; gene == At2g24190; score == 137; expect == 4.9e-33; MEOW:ATgn0008073 (34%) |species == Weed; gene == At3g59710; score == 137; expect == 8.4e-33; MEOW:ATgn0013045 (35%) |species == rice; score == 136; expect == 2.4e-32; MEOW:gnl|TIGR|8352.m04145 (34%) } # EOR GENR { RETE|ID 1 HUgn0000875 CHR 1 21 DID 1 LocusLink:875 MAP 1 21q22.3 NAM 1 cystathionine-beta-synthase ORG 1 Homo sapiens SYM 1 CBS ID|HUgn0000875 DID|LocusLink:875 ORG|Homo sapiens RSQ|REFSEQ:NM_000071 RPA|REFPROT:NP_000062 DBA|XM:NM_000071 |NA:AF042836 |NA:X88562 |NA:AL137314 |NA:BC000440 |NA:BC007257 |NA:BC010242 |NA:BC011381 |NA:BC012319 |NA:BT007154 |NA:L00972 |NA:L14577 |NA:L19501 |NA:X82166 |NA:none PAC|XP:NP_000062 SYM|CBS NAM|cystathionine-beta-synthase SYN|HIP4 FNC|cystathionine-beta-synthase |amino acid metabolism ; GO:0006520 |cysteine biosynthesis from serine ; GO:0006535 |cysteine biosynthesis via cystathione ; GO:0019343 REAB|The protein encoded by this gene is involved in the transsulfuration pathway. The |first step of this pathway, from homocysteine to cystathionine, is catalyzed by |this protein. CBS deficiency can cause homocystinuria which affects many organs |and tissues, including the eyes and the skeletal, vascular and central nervous systems. CHR|21 PRD|beta-thionase |serine sulfhydrase |methylcysteine synthase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=875[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119754 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000071 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000071 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171003 |http://www.geneclinics.org/query?mim=236200 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00450 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26123 DBL|UNIGENE:Hs.171003 |OMIM:236200 |SNP:875 MAP|21q22.3 PHP|Homocystinuria, B6-responsive and nonresponsive types |Thrombosis, hyperhomocysteinemic ENZ|cystathionine beta-synthase activity ; GO:0004122 |lyase activity ; GO:0016829 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 929; expect == 0.0; MEOW:ref|NP_036654.1| (83%) |species == Mouse; gene == Cbs; score == 907; expect == 0.0; MEOW:MGgn0001092 (81%) |species == Mosquito; gene == LOC19297; score == 556; expect == 8e-159; MEOW:AGgn0019297 (55%) |species == Fruitfly; gene == CG1753; score == 513; expect == 5e-146; MEOW:FBgn0031148 (51%) |species == Yeast; gene == CYS4; score == 374; expect == 2e-104; MEOW:SGgn0003387 (46%) |species == Worm; gene == F54A3.4; score == 353; expect == 1.2e-97; MEOW:CEgn0023300 (55%) |species == rice; score == 223; expect == 4.8e-58; MEOW:gnl|TIGR|8354.m03381 (41%) |species == rice; score == 218; expect == 1.2e-56; MEOW:gnl|TIGR|8360.m04810 (39%) |species == rice; score == 217; expect == 3.4e-56; MEOW:gnl|TIGR|8354.m00469 (39%) |species == Weed; gene == At3g59760; score == 213; expect == 1.7e-55; MEOW:ATgn0013060 (40%) |species == Weed; gene == OAS1; score == 212; expect == 3.8e-55; MEOW:ATgn0019548 (38%) |species == Weed; gene == OASB; score == 211; expect == 1.1e-54; MEOW:ATgn0008883 (40%) |species == rice; score == 209; expect == 5.5e-54; MEOW:gnl|TIGR|8350.m07018 (38%) |species == rice; score == 209; expect == 2.3e-54; MEOW:gnl|TIGR|8354.m03385 (39%) |species == rice; score == 209; expect == 5.5e-54; MEOW:gnl|TIGR|8359.m04114 (40%) |species == Weed; gene == At5g28020; score == 200; expect == 2.0e-51; MEOW:ATgn0025753 (39%) |species == rice; score == 199; expect == 7.4e-51; MEOW:gnl|TIGR|8352.m00702 (38%) |species == ecoli; score == 199; expect == 3.0e-52; MEOW:ref|NP_416909.1| (39%) |species == Weed; gene == At3g04940; score == 198; expect == 9.8e-51; MEOW:ATgn0015179 (39%) |species == Weed; gene == At5g28030; score == 196; expect == 2.9e-50; MEOW:ATgn0025755 (39%) |species == rice; score == 196; expect == 8.2e-50; MEOW:gnl|TIGR|8351.m01120 (39%) |species == rice; score == 191; expect == 2.6e-48; MEOW:gnl|TIGR|8350.m05606 (36%) |species == Weed; gene == At3g03630; score == 184; expect == 8.6e-47; MEOW:ATgn0013912 (35%) |species == Weed; gene == OAS5; score == 178; expect == 8.0e-45; MEOW:ATgn0014566 (36%) |species == ecoli; score == 177; expect == 1.2e-45; MEOW:ref|NP_416916.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0000876 CHR 1 17 DID 1 LocusLink:876 MAP 1 17q25.3 NAM 1 chromobox homolog 2 (Pc class homolog, Drosophila) ORG 1 Homo sapiens SYM 1 CBX2 ID|HUgn0000876 DID|LocusLink:876 ORG|Homo sapiens DBA|NA:X77824 |NA:X77825 |NA:AL157459 |NA:BG354579 |NA:none SYM|CBX2 NAM|chromobox homolog 2 (Pc class homolog, Drosophila) SYN|M33 |CDCA6 CHR|17 PRD|modifier 3 |M33 polycomb-like |cell division cycle associated 6 DBL|OMIM:602770 MAP|17q25.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:344722 |http://www.gdb.org/gdb-bin/genera/accno?GDB:11508683 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AL157459 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AL157459 ENZ|DNA binding ; GO:0003677 |transcriptional repressor activity ; GO:0016564 FNC|regulation of transcription, DNA-dependent ; GO:0006355 |negative regulation of transcription ; GO:0016481 |chromatin modification ; GO:0016568 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0000878 CHR 1 17 DID 1 LocusLink:878 MAP 1 17q24 NAM 1 cataract, congenital, cerulean type, 1 ORG 1 Homo sapiens SYM 1 CCA1 ID|HUgn0000878 DID|LocusLink:878 ORG|Homo sapiens SYM|CCA1 NAM|cataract, congenital, cerulean type, 1 CHR|17 PRD|Cataract, congenital, cerulean type DBL|OMIM:115660 MAP|17q24 PHP|Cataract, cerulean, type 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118763 } # EOR GENR { RETE|ID 1 HUgn0000880 DID 1 LocusLink:880 NAM 1 cataract, congenital ORG 1 Homo sapiens SYM 1 CCAT ID|HUgn0000880 DID|LocusLink:880 ORG|Homo sapiens SYM|CCAT NAM|cataract, congenital SYN|ULG3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118738 } # EOR GENR { RETE|ID 1 HUgn0000881 CHR 1 9 DID 1 LocusLink:881 MAP 1 9p13.1 NAM 1 calicin ORG 1 Homo sapiens SYM 1 CCIN ID|HUgn0000881 DID|LocusLink:881 ORG|Homo sapiens RSQ|REFSEQ:NM_005893 RPA|REFPROT:NP_005884 DBA|XM:NM_005893 |NA:AA420997 |NA:AF333334 |NA:BC019251 |NA:Z46967 |NA:none PAC|XP:NP_005884 SYM|CCIN NAM|calicin FNC|calicin |spermatogenesis ; GO:0007283 REAB|The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. |This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal |morphology during sperm differentiation. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115460 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=881[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836954 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005893 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005893 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115460 DBL|UNIGENE:Hs.115460 |OMIM:603960 |SNP:881 MAP|9p13.1 ENZ|protein binding ; GO:0005515 |structural constituent of cytoskeleton ; GO:0005200 CEL|cytoskeleton ; GO:0005856 HG|species == rat; score == 1126; expect == 0.0; MEOW:ref|XP_233369.1| (92%) |species == Mouse; gene == l11Jus53; score == 138; expect == 6.5e-33; MEOW:MGgn0045676 (23%) |species == Human; gene == FLJ10572; score == 137; expect == 1.7e-32; MEOW:HUgn0055175 (23%) } # EOR GENR { RETE|ID 1 HUgn0000882 CHR 1 8 DID 1 LocusLink:882 MAP 1 8q NAM 1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) ORG 1 Homo sapiens SYM 1 CCAL1 ID|HUgn0000882 DID|LocusLink:882 ORG|Homo sapiens SYM|CCAL1 NAM|chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) SYN|CPDD CHR|8 PRD|Chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early DBL|OMIM:600668 MAP|8q PHP|Chondrocalcinosis with early-onset osteoarthritis URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:512892 } # EOR GENR { RETE|ID 1 HUgn0000883 CHR 1 9 DID 1 LocusLink:883 MAP 1 9q34.13 NAM 1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) ORG 1 Homo sapiens SYM 1 CCBL1 ID|HUgn0000883 DID|LocusLink:883 ORG|Homo sapiens RSQ|REFSEQ:NM_004059 RPA|REFPROT:NP_004050 DBA|XM:NM_004059 |NA:Y17447 |NA:Y17448 |NA:AK094505 |NA:BC013069 |NA:BC021262 |NA:BC022468 |NA:BC033685 |NA:X82224 PAC|XP:NP_004050 SYM|CCBL1 NAM|cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) FNC|cytoplasmic cysteine conjugate-beta lyase |amino acid derivative metabolism ; GO:0006575 REAB|This gene encodes a cytosolic enzyme which is responsible for the metabolism of cysteine |conjugates of certain halogenated alkenes and alkanes. This metabolism leads to |the formation of reactive metabolites which can lead to nephrotoxicity and neurotoxicity. CHR|9 PRD|glutamine-phenylpyruvate aminotransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=382311 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=883[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568380 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004059 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004059 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=382311 DBL|UNIGENE:Hs.382311 |OMIM:600547 |SNP:883 ENZ|EC:2.6.1.64 |transaminase activity ; GO:0008483 MAP|9q34.13 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Ccbl1; score == 727; expect == 0.0; MEOW:MGgn0018982 (81%) |species == rat; score == 719; expect == 0.0; MEOW:ref|XP_231118.2| (82%) |species == Mosquito; gene == LOC22034; score == 404; expect == 6e-113; MEOW:AGgn0022034 (48%) |species == Worm; gene == F28H6.3; score == 313; expect == 1.2e-85; MEOW:CEgn0009591 (39%) |species == Worm; gene == R03A10.4; score == 310; expect == 1.0e-84; MEOW:CEgn0014304 (40%) |species == Fruitfly; gene == CG6950; score == 267; expect == 3.3e-72; MEOW:FBgn0037955 (49%) |species == Weed; gene == At1g77670; score == 264; expect == 6.5e-71; MEOW:ATgn0003874 (36%) |species == rice; score == 246; expect == 1.4e-65; MEOW:gnl|TIGR|8357.m02431 (35%) |species == Yeast; gene == BNA3; score == 233; expect == 2.1e-61; MEOW:SGgn0003596 (35%) |species == ecoli; score == 208; expect == 4.6e-54; MEOW:ref|NP_415133.1| (32%) } # EOR GENR { RETE|ID 1 HUgn0000885 CHR 1 3 DID 1 LocusLink:885 MAP 1 3p22-p21.3 NAM 1 cholecystokinin ORG 1 Homo sapiens SYM 1 CCK ID|HUgn0000885 DID|LocusLink:885 ORG|Homo sapiens RSQ|REFSEQ:NM_000729 RPA|REFPROT:NP_000720 DBA|XM:NM_000729 |NA:L00354 |NA:L29399 |NA:L29400 |NA:BC008283 |NA:BC028133 |NA:none PAC|XP:NP_000720 SYM|CCK NAM|cholecystokinin FNC|cholecystokinin preproprotein |signal transduction ; GO:0007165 REAB|Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic |enzymes and the contraction of the gallbladder. In the brain, its physiologic role |is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic |cleavages. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458426 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=885[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119050 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000729 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000729 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=458426 DBL|UNIGENE:Hs.458426 |OMIM:118440 |SNP:885 MAP|3p22-p21.3 ENZ|hormone activity ; GO:0005179 |peptide hormone ; GO:0005180 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Cck; score == 188; expect == 2.1e-49; MEOW:MGgn0001105 (80%) |species == rat; score == 181; expect == 5.3e-47; MEOW:ref|NP_036961.1| (78%) } # EOR GENR { RETE|ID 1 HUgn0000886 CHR 1 4 DID 1 LocusLink:886 MAP 1 4p15.1-p15.2 NAM 1 cholecystokinin A receptor ORG 1 Homo sapiens SYM 1 CCKAR ID|HUgn0000886 DID|LocusLink:886 ORG|Homo sapiens RSQ|REFSEQ:NM_000730 RPA|REFPROT:NP_000721 DBA|XM:NM_000730 |NA:U23430 |NA:AY322549 |NA:L13605 |NA:L19315 |NA:none PAC|XP:NP_000721 SYM|CCKAR NAM|cholecystokinin A receptor FNC|cholecystokinin A receptor |cytosolic calcium ion concentration elevation ; GO:0007204 |response to nutrients ; GO:0007584 |feeding behavior ; GO:0007631 |smooth muscle contraction ; GO:0006939 |digestion ; GO:0007586 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=886[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141927 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000730 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000730 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26142 DBL|UNIGENE:Hs.129 |OMIM:118444 |SNP:886 MAP|4p15.1-p15.2 ENZ|cholecystokinin receptor activity ; GO:0004951 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cckar; score == 693; expect == 0.0; MEOW:MGgn0001106 (88%) |species == rat; score == 412; expect == 1e-115; MEOW:ref|XP_341222.1| (96%) |species == Human; gene == CCKBR; score == 321; expect == 5.6e-88; MEOW:HUgn0000887 (50%) |species == Mosquito; score == 217; expect == 7.8e-57; MEOW:AGgn0005403 (37%) |species == Fruitfly; gene == CCKLR-17D1; score == 189; expect == 1.1e-48; MEOW:FBgn0030950 (36%) |species == Fruitfly; gene == CCKLR-17D3; score == 154; expect == 5.3e-38; MEOW:FBgn0030954 (41%) |species == Worm; gene == Y39A3B.5; score == 138; expect == 9.8e-33; MEOW:CEgn0018389 (33%) } # EOR GENR { RETE|ID 1 HUgn0000887 CHR 1 11 DID 1 LocusLink:887 MAP 1 11p15.4 NAM 1 cholecystokinin B receptor ORG 1 Homo sapiens SYM 1 CCKBR ID|HUgn0000887 DID|LocusLink:887 ORG|Homo sapiens RSQ|REFSEQ:NM_176875 RPA|REFPROT:NP_795344 DBA|XM:NM_176875 |NA:L10822 |NA:AF239668 |NA:AF441129 |NA:AY029770 |NA:AY322551 |NA:BC000740 |NA:BT006789 |NA:D13305 |NA:L04473 |NA:L07746 |NA:L08112 |NA:S70057 |NA:none PAC|XP:NP_795344 SYM|CCKBR NAM|cholecystokinin B receptor SYN|GASR FNC|cholecystokinin B receptor REAB|This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), |regulatory peptides of the brain and gastrointestinal tract. This protein is a type |B gastrin receptor, which has a high affinity for both sulfated and nonsulfated |CCK analogs and is found principally in the central nervous system and the gastrointestinal |tract. A misspliced transcript variant including an intron has been observed in |cells from colorectal and pancreatic tumors. CHR|11 PRD|CCK2 receptor |gastrin receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=203 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=887[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136457 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_176875 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_176875 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=203 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26143 DBL|UNIGENE:Hs.203 |OMIM:118445 |SNP:887 MAP|11p15.4 HG|species == rat; score == 627; expect == 4e-180; MEOW:ref|NP_037297.1| (88%) |species == Mouse; gene == Cckbr; score == 623; expect == 4e-179; MEOW:MGgn0001107 (87%) |species == Human; gene == CCKAR; score == 321; expect == 5.6e-88; MEOW:HUgn0000886 (50%) |species == Mosquito; score == 206; expect == 1.8e-53; MEOW:AGgn0005403 (38%) |species == Fruitfly; gene == CCKLR-17D3; score == 140; expect == 2.0e-33; MEOW:FBgn0030954 (41%) |species == Worm; gene == Y39A3B.5; score == 132; expect == 5.4e-31; MEOW:CEgn0018389 (35%) } # EOR GENR { RETE|ID 1 HUgn0000889 CHR 1 7 DID 1 LocusLink:889 MAP 1 7q21-q22 NAM 1 cerebral cavernous malformations 1 ORG 1 Homo sapiens SYM 1 CCM1 ID|HUgn0000889 DID|LocusLink:889 ORG|Homo sapiens RSQ|REFSEQ:NM_004912 |REFSEQ:NM_194454 |REFSEQ:NM_194455 |REFSEQ:NM_194456 RPA|REFPROT:NP_004903 |REFPROT:NP_919436 |REFPROT:NP_919437 |REFPROT:NP_919438 DBA|XM:NM_004912 |XM:NM_004912 |NA:U90269 |NA:AF296765 |NA:AF310133 |NA:AF388384 |NA:AJ294850 |NA:AK055305 |NA:AK056537 |NA:AL049325 |NA:AY380057 |NA:AY380058 |NA:AY380059 |NA:AY380060 |NA:BQ070587 |NA:BX648659 |NA:U90268 |NA:none PAC|XP:NP_004903 |XP:NP_004903 SYM|CCM1 NAM|cerebral cavernous malformations 1 SYN|CAM |KRIT1 FNC|krev interaction trapped 1 CHR|7 PRD|ankyrin repeat-containing protein Krit1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438833 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=889[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:580824 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_194455 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_194455 |http://www.geneclinics.org/query?mim=604214 DBL|UNIGENE:Hs.438833 |OMIM:604214 |SNP:889 MAP|7q21-q22 PHP|Cavernous malformations of CNS and retina |Cerebral cavernous malformations-1 |Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations HG|species == Mouse; gene == Ccm1; score == 1377; expect == 0.0; MEOW:MGgn0028478 (93%) |species == rat; score == 1000; expect == 0.0; MEOW:ref|XP_342635.1| (93%) |species == rat; score == 1000; expect == 0.0; MEOW:ref|XP_347226.1| (93%) } # EOR GENR { RETE|ID 1 HUgn0000890 CHR 1 4 DID 1 LocusLink:890 MAP 1 4q25-q31 NAM 1 cyclin A2 ORG 1 Homo sapiens SYM 1 CCNA2 ID|HUgn0000890 DID|LocusLink:890 ORG|Homo sapiens RSQ|REFSEQ:NM_001237 RPA|REFPROT:NP_001228 DBA|XM:NM_001237 |NA:X68303 |NA:AW276578 |NA:X51688 |NA:none PAC|XP:NP_001228 SYM|CCNA2 NAM|cyclin A2 SYN|CCN1 |CCNA FNC|cyclin A |mitotic G2 checkpoint ; GO:0007095 |regulation of CDK activity ; GO:0000079 |mitosis ; GO:0007067 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. In contrast to cyclin A1, which is present only |in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds |and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M |transitions. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=85137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=890[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125211 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001237 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001237 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.85137 |OMIM:123835 |SNP:890 MAP|4q25-q31 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccna2; score == 716; expect == 0.0; MEOW:MGgn0001109 (86%) |species == rat; score == 681; expect == 0.0; MEOW:ref|XP_342230.1| (81%) |species == Zfish; gene == ccna2; score == 461; expect == 3e-130; MEOW:ZFgn0002578 (70%) |species == Human; gene == CCNA1; score == 347; expect == 5.7e-96; MEOW:HUgn0008900 (61%) |species == Mosquito; score == 284; expect == 4.3e-77; MEOW:AGgn0028778 (54%) |species == Mosquito; gene == LOC11682; score == 278; expect == 1.8e-75; MEOW:AGgn0011682 (58%) |species == Fruitfly; gene == CycA; score == 242; expect == 1.5e-64; MEOW:FBgn0000404 (49%) |species == rice; score == 207; expect == 2.6e-53; MEOW:gnl|TIGR|8360.m03677 (39%) |species == rice; score == 205; expect == 7.6e-53; MEOW:gnl|TIGR|8359.m03726 (35%) |species == Weed; gene == CYCA3;1; score == 204; expect == 1.0e-52; MEOW:ATgn0022899 (44%) |species == Weed; gene == CYCA3;4; score == 197; expect == 7.7e-51; MEOW:ATgn0005266 (42%) |species == Weed; gene == CYCA2;3; score == 189; expect == 2.7e-48; MEOW:ATgn0003855 (32%) |species == Weed; gene == CYCA1;1; score == 189; expect == 2.6e-48; MEOW:ATgn0004127 (43%) |species == Weed; gene == CYCA3;3; score == 186; expect == 1.5e-47; MEOW:ATgn0005264 (43%) |species == Weed; gene == CYCA2;4; score == 181; expect == 7.1e-46; MEOW:ATgn0006700 (39%) |species == Weed; gene == CYCA1;2; score == 176; expect == 2.3e-44; MEOW:ATgn0003776 (40%) |species == Weed; gene == CYCB2;2; score == 173; expect == 1.9e-43; MEOW:ATgn0020097 (38%) |species == Weed; gene == CYCB1;3; score == 172; expect == 4.0e-43; MEOW:ATgn0015868 (37%) |species == Weed; gene == CYCA2;1; score == 172; expect == 3.3e-43; MEOW:ATgn0024189 (39%) |species == rice; score == 169; expect == 6.0e-42; MEOW:gnl|TIGR|8350.m01232 (39%) |species == Weed; gene == CYCB1;2; score == 168; expect == 6.4e-42; MEOW:ATgn0026228 (36%) |species == Worm; gene == ZK507.6; score == 157; expect == 9.7e-39; MEOW:CEgn0020992 (37%) |species == Yeast; gene == CLB4; score == 135; expect == 1.6e-32; MEOW:SGgn0004200 (31%) |species == Yeast; gene == CLB2; score == 129; expect == 8.9e-31; MEOW:SGgn0006323 (33%) } # EOR GENR { RETE|ID 1 HUgn0000891 CHR 1 5 DID 1 LocusLink:891 MAP 1 5q12 NAM 1 cyclin B1 ORG 1 Homo sapiens SYM 1 CCNB1 ID|HUgn0000891 DID|LocusLink:891 ORG|Homo sapiens RSQ|REFSEQ:NM_031966 RPA|REFPROT:NP_114172 DBA|XM:NM_031966 |NA:S74452 |NA:U22364 |NA:AI972071 |NA:AY027761 |NA:AY027762 |NA:AY027763 |NA:AY027764 |NA:AY027765 |NA:AY027767 |NA:AY027768 |NA:AY027769 |NA:AY027770 |NA:BC006510 |NA:BC018868 |NA:M25753 |NA:none PAC|XP:NP_114172 SYM|CCNB1 NAM|cyclin B1 SYN|CCNB FNC|cyclin B1 |G2/M transition of mitotic cell cycle ; GO:0000086 |mitosis ; GO:0007067 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene is a regulatory protein involved in mitosis. The |gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). |Two alternative transcripts have been found, a constitutively expressed transcript |and a cell cycle-regulated transcript, that is expressed predominantly during G2/M |phase. The different transcripts result from the use of alternate transcription |initiation sites. CHR|5 PRD|G2/mitotic-specific cyclin B1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23960 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=891[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128965 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031966 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031966 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=23960 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.23960 |OMIM:123836 |SNP:891 MAP|5q12 CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Ccnb1; score == 684; expect == 0.0; MEOW:MGgn0001114 (82%) |species == rat; score == 667; expect == 0.0; MEOW:ref|NP_741988.1| (81%) |species == Zfish; gene == ccnb1; score == 496; expect == 4e-142; MEOW:ZFgn0000894 (59%) |species == Human; gene == CCNB2; score == 392; expect == 1e-109; MEOW:HUgn0009133 (54%) |species == Mosquito; gene == LOC10772; score == 246; expect == 1.3e-65; MEOW:AGgn0010772 (46%) |species == Mosquito; gene == LOC11452; score == 244; expect == 3.8e-65; MEOW:AGgn0011452 (46%) |species == Fruitfly; gene == CycB; score == 236; expect == 1.1e-62; MEOW:FBgn0000405 (44%) |species == Weed; gene == CYCA2;1; score == 193; expect == 2.4e-49; MEOW:ATgn0024189 (39%) |species == Weed; gene == CYCA3;3; score == 191; expect == 4.7e-49; MEOW:ATgn0005264 (39%) |species == Weed; gene == CYCA3;1; score == 191; expect == 4.0e-49; MEOW:ATgn0022899 (40%) |species == Yeast; gene == CLB4; score == 188; expect == 2.1e-48; MEOW:SGgn0004200 (36%) |species == Yeast; gene == CLB2; score == 188; expect == 1.2e-48; MEOW:SGgn0006323 (40%) |species == Weed; gene == CYCA2;4; score == 186; expect == 2.9e-47; MEOW:ATgn0006700 (39%) |species == Weed; gene == CYCA2;3; score == 183; expect == 2.4e-46; MEOW:ATgn0003855 (38%) |species == Weed; gene == CYCB1;2; score == 183; expect == 1.9e-46; MEOW:ATgn0026228 (31%) |species == Yeast; gene == CLB3; score == 183; expect == 6.8e-47; MEOW:SGgn0002314 (33%) |species == Weed; gene == CYCA3;4; score == 181; expect == 4.4e-46; MEOW:ATgn0005266 (38%) |species == rice; score == 179; expect == 7.7e-45; MEOW:gnl|TIGR|8360.m03677 (37%) |species == Weed; gene == CYCA2;2; score == 178; expect == 6.0e-45; MEOW:ATgn0023788 (38%) |species == Weed; gene == CYCB1;4; score == 176; expect == 3.0e-44; MEOW:ATgn0009811 (37%) |species == Yeast; gene == CLB1; score == 175; expect == 1.4e-44; MEOW:SGgn0003340 (38%) |species == rice; score == 175; expect == 1.1e-43; MEOW:gnl|TIGR|8352.m04414 (38%) |species == Weed; gene == CYCB2;2; score == 174; expect == 6.6e-44; MEOW:ATgn0020097 (35%) |species == Weed; gene == CYCB2;4; score == 172; expect == 3.3e-43; MEOW:ATgn0002094 (30%) |species == Weed; gene == CYCA1;2; score == 172; expect == 4.4e-43; MEOW:ATgn0003776 (30%) |species == Weed; gene == CYCA1;1; score == 170; expect == 1.3e-42; MEOW:ATgn0004127 (37%) |species == Weed; gene == CYCB2;3; score == 165; expect == 3.9e-41; MEOW:ATgn0003623 (34%) |species == Weed; gene == CYCB1;3; score == 164; expect == 8.4e-41; MEOW:ATgn0015868 (36%) |species == rice; score == 164; expect == 2.5e-40; MEOW:gnl|TIGR|8353.m03681 (29%) |species == rice; score == 162; expect == 9.7e-40; MEOW:gnl|TIGR|8359.m03726 (35%) |species == Weed; gene == CYCB1;1; score == 159; expect == 2.2e-39; MEOW:ATgn0029402 (34%) |species == Worm; gene == cyb-1; score == 158; expect == 3.4e-39; MEOW:CEgn0000323 (37%) |species == Worm; gene == cyb-3; score == 158; expect == 4.4e-39; MEOW:CEgn0021592 (29%) |species == Yeast; gene == CLB5; score == 158; expect == 1.4e-39; MEOW:SGgn0006324 (35%) |species == Weed; gene == CYCB2;1; score == 157; expect == 1.1e-38; MEOW:ATgn0008068 (36%) |species == rice; score == 156; expect == 2.5e-38; MEOW:gnl|TIGR|8350.m05536 (37%) |species == Yeast; gene == CLB6; score == 154; expect == 2.6e-38; MEOW:SGgn0003341 (31%) |species == Worm; gene == cyb-2.1; score == 153; expect == 1.4e-37; MEOW:CEgn0018623 (34%) |species == rice; score == 150; expect == 2.9e-36; MEOW:gnl|TIGR|8350.m01646 (33%) |species == Worm; gene == cyb-2.2; score == 149; expect == 1.6e-36; MEOW:CEgn0012850 (34%) |species == rice; score == 144; expect == 1.6e-34; MEOW:gnl|TIGR|8350.m01232 (32%) } # EOR GENR { RETE|ID 1 HUgn0000892 CHR 1 6 DID 1 LocusLink:892 MAP 1 6q21 NAM 1 cyclin C ORG 1 Homo sapiens SYM 1 CCNC ID|HUgn0000892 DID|LocusLink:892 ORG|Homo sapiens RSQ|REFSEQ:NM_005190 RPA|REFPROT:NP_005181 DBA|XM:NM_005190 |NA:U40739 |NA:AB125137 |NA:BC010135 |NA:BC050726 |NA:BC056153 |NA:M74091 |NA:none PAC|XP:NP_005181 SYM|CCNC NAM|cyclin C FNC|cyclin C |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The human G1-phase cyclins are important regulators of cell cycle progression that |interact with various cyclin-dependent kinases and facilitate entry into S-phase. |Cyclin C protein, encoded by cyclin c (CCNC) gene, is one of these regulators. The |CCNC gene contains 12 exons and the mRNA accumulates periodically during the cell |cycle, peaking at different times in G1. This gene is deleted in a subset of acute |lymphoblastic leukemias and may be involved in tumorigenesis. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435450 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=892[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128966 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005190 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005190 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435450 DBL|UNIGENE:Hs.435450 |OMIM:123838 |SNP:892 MAP|6q21 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccnc; score == 551; expect == 1e-157; MEOW:MGgn0013891 (98%) |species == rat; score == 541; expect == 2e-154; MEOW:ref|XP_342813.1| (99%) |species == Mosquito; score == 399; expect == 8e-112; MEOW:AGgn0013964 (69%) |species == Fruitfly; gene == CycC; score == 389; expect == 6e-109; MEOW:FBgn0004597 (71%) |species == Worm; gene == H14E04.5; score == 198; expect == 2.6e-51; MEOW:CEgn0012740 (37%) |species == Weed; gene == At5g48630; score == 184; expect == 4.0e-47; MEOW:ATgn0021319 (40%) |species == Weed; gene == At5g48640; score == 176; expect == 1.5e-44; MEOW:ATgn0021320 (38%) } # EOR GENR { RETE|ID 1 HUgn0000894 CHR 1 12 DID 1 LocusLink:894 MAP 1 12p13 NAM 1 cyclin D2 ORG 1 Homo sapiens SYM 1 CCND2 ID|HUgn0000894 DID|LocusLink:894 ORG|Homo sapiens RSQ|REFSEQ:NM_001759 RPA|REFPROT:NP_001750 DBA|XM:NM_001759 |NA:M88080 |NA:M88081 |NA:M88082 |NA:M88083 |NA:BC010958 |NA:BX647508 |NA:D13639 |NA:M90813 |NA:X68452 |NA:none PAC|XP:NP_001750 SYM|CCND2 NAM|cyclin D2 SYN|KIAK0002 FNC|cyclin D2 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin forms a complex with and functions |as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle |G1/S transition. This protein has been shown to interact with and be involved in |the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous |gene in mouse suggest the essential roles of this gene in ovarian granulosa and |germ cell proliferation. High level expression of this gene was observed in ovarian |and testicular tumors. CHR|12 PRD|G1/S-specific cyclin D2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=376071 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=894[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128968 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001759 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001759 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=376071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26150 DBL|UNIGENE:Hs.376071 |OMIM:123833 |SNP:894 MAP|12p13 CEL|nucleus ; GO:0005634 HG|species == rat; score == 511; expect == 2e-145; MEOW:ref|XP_216276.1| (92%) |species == Mouse; gene == Ccnd2; score == 504; expect == 3e-143; MEOW:MGgn0001125 (91%) |species == Zfish; gene == ccnd1; score == 328; expect == 2.1e-90; MEOW:ZFgn0000036 (62%) |species == Human; gene == CCND3; score == 313; expect == 7.0e-86; MEOW:HUgn0000896 (64%) |species == Human; gene == CCND1; score == 307; expect == 5.1e-84; MEOW:HUgn0000595 (61%) |species == rat; score == 296; expect == 8.8e-81; MEOW:ref|NP_741989.2| (62%) |species == Fruitfly; gene == CycD; score == 153; expect == 2.2e-37; MEOW:FBgn0010315 (44%) |species == Mosquito; score == 129; expect == 4.7e-31; MEOW:AGgn0027657 (49%) } # EOR GENR { RETE|ID 1 HUgn0000895 CHR 1 11 DID 1 LocusLink:895 MAP 1 11q13 NAM 1 cyclin D2 pseudogene ORG 1 Homo sapiens SYM 1 CCND2P ID|HUgn0000895 DID|LocusLink:895 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M91003 SYM|CCND2P NAM|cyclin D2 pseudogene CHR|11 MAP|11q13 DBL|SNP:895 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128970 } # EOR GENR { RETE|ID 1 HUgn0000896 CHR 1 6 DID 1 LocusLink:896 MAP 1 6p21 NAM 1 cyclin D3 ORG 1 Homo sapiens SYM 1 CCND3 ID|HUgn0000896 DID|LocusLink:896 ORG|Homo sapiens RSQ|REFSEQ:NM_001760 RPA|REFPROT:NP_001751 DBA|XM:NM_001760 |NA:M88085 |NA:M88086 |NA:M88087 |NA:U47285 |NA:AK055519 |NA:AK057206 |NA:AK096276 |NA:AK097856 |NA:BC011616 |NA:M90814 |NA:M92287 |NA:none PAC|XP:NP_001751 SYM|CCND3 NAM|cyclin D3 FNC|cyclin D3 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin forms a complex with and functions |as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle |G1/S transition. This protein has been shown to interact with and be involved in |the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated |with this cyclin was reported to be necessary for cell cycle progression through |G2 phase into mitosis after UV radiation. CHR|6 PRD|D3-type cyclin |G1/S-specific cyclin D3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83173 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=896[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128969 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001760 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001760 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83173 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.83173 |OMIM:123834 |SNP:896 MAP|6p21 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccnd3; score == 498; expect == 1e-141; MEOW:MGgn0001126 (94%) |species == rat; score == 322; expect == 1.1e-88; MEOW:ref|XP_216276.1| (61%) |species == Human; gene == CCND2; score == 313; expect == 7.0e-86; MEOW:HUgn0000894 (64%) |species == Zfish; gene == ccnd1; score == 273; expect == 1.0e-73; MEOW:ZFgn0000036 (53%) |species == Human; gene == CCND1; score == 261; expect == 2.4e-70; MEOW:HUgn0000595 (55%) |species == Fruitfly; gene == CycD; score == 148; expect == 2.3e-36; MEOW:FBgn0010315 (39%) } # EOR GENR { RETE|ID 1 HUgn0000897 CHR 1 6 DID 1 LocusLink:897 MAP 1 6p21 NAM 1 cyclin D3 pseudogene ORG 1 Homo sapiens SYM 1 CCND3P ID|HUgn0000897 DID|LocusLink:897 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M90815 SYM|CCND3P NAM|cyclin D3 pseudogene CHR|6 MAP|6p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128971 } # EOR GENR { RETE|ID 1 HUgn0000898 CHR 1 19 DID 1 LocusLink:898 MAP 1 19q12 NAM 1 cyclin E1 ORG 1 Homo sapiens SYM 1 CCNE1 ID|HUgn0000898 DID|LocusLink:898 ORG|Homo sapiens RSQ|REFSEQ:NM_001238 |REFSEQ:NM_057182 RPA|REFPROT:NP_001229 |REFPROT:NP_476530 DBA|XM:NM_001238 |XM:NM_057182 |NA:L48996 |NA:U40787 |NA:U40788 |NA:X95406 |NA:AU137789 |NA:BC035498 |NA:BE645164 |NA:M73812 |NA:M74093 |NA:none PAC|XP:NP_001229 |XP:NP_476530 SYM|CCNE1 NAM|cyclin E1 SYN|CCNE FNC|cyclin E1 isoform 1 |cyclin E1 isoform 2 |G1/S transition of mitotic cell cycle ; GO:0000082 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin forms a complex with and functions |as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S |transition. This protein accumulates at the G1-S phase boundary and is degraded |as cells progress through S phase. Overexpression of this gene has been observed |in many tumors, which results in chromosome instability, and thus may contribute |to tumorigenesis. This protein was found to associate with, and be involved in, |the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which |participates in cell-cycle regulated histone gene expression and plays a critical |role in promoting cell-cycle progression in the absence of pRB. Two alternatively |spliced transcript variants of this gene, which encode distinct isoforms, have been |described. Two additional splice variants were reported but detailed nucleotide |sequence information is not yet available. CHR|19 PRD|Cyclin E |Cyclin Es |Cyclin Et URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=244723 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=898[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128967 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001238 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001238 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=244723 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.244723 |OMIM:123837 |SNP:898 MAP|19q12 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccne1; score == 644; expect == 0.0; MEOW:MGgn0001128 (79%) |species == Zfish; gene == ccne; score == 465; expect == 2e-131; MEOW:ZFgn0000031 (60%) |species == rat; score == 352; expect == 1.6e-97; MEOW:ref|XP_342805.1| (55%) |species == Human; gene == CCNE2; score == 342; expect == 1.4e-94; MEOW:HUgn0009134 (57%) |species == Fruitfly; gene == CycE; score == 269; expect == 4.6e-72; MEOW:FBgn0010382 (43%) |species == Mosquito; gene == LOC21921; score == 234; expect == 5.7e-62; MEOW:AGgn0021921 (42%) |species == Worm; gene == cye-1; score == 171; expect == 7.0e-43; MEOW:CEgn0021593 (31%) } # EOR GENR { RETE|ID 1 HUgn0000899 CHR 1 16 DID 1 LocusLink:899 MAP 1 16p13.3 NAM 1 cyclin F ORG 1 Homo sapiens SYM 1 CCNF ID|HUgn0000899 DID|LocusLink:899 ORG|Homo sapiens RSQ|REFSEQ:NM_001761 RPA|REFPROT:NP_001752 DBA|XM:NM_001761 |NA:BC012349 |NA:U17105 |NA:Z36714 |NA:none PAC|XP:NP_001752 SYM|CCNF NAM|cyclin F SYN|FBX1 |FBXO1 FNC|cyclin F |mitosis ; GO:0007067 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|This gene encodes a member of the cyclin family. Cyclins are important regulators |of cell cycle transitions through their ability to bind and activate cyclin-dependent |protein kinases. This member also belongs to the F-box protein family which is characterized |by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute |one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), |which function in phosphorylation-dependent ubiquitination. The F-box proteins are |divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich |repeats, and Fbxs containing either different protein-protein interaction modules |or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs |class and it was one of the first proteins in which the F-box motif was identified. CHR|16 PRD|F-box only protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1973 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=899[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:342101 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001761 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001761 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1973 DBL|UNIGENE:Hs.1973 |OMIM:600227 |SNP:899 MAP|16p13.3 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1246; expect == 0.0; MEOW:ref|XP_340764.1| (84%) |species == Mouse; gene == Ccnf; score == 1221; expect == 0.0; MEOW:MGgn0001130 (83%) } # EOR GENR { RETE|ID 1 HUgn0000900 CHR 1 5 DID 1 LocusLink:900 MAP 1 5q32-q34 NAM 1 cyclin G1 ORG 1 Homo sapiens SYM 1 CCNG1 ID|HUgn0000900 DID|LocusLink:900 ORG|Homo sapiens RSQ|REFSEQ:NM_004060 RPA|REFPROT:NP_004051 DBA|XM:NM_004060 |NA:D86077 |NA:BC000196 |NA:BC007093 |NA:BX538035 |NA:D78341 |NA:L49504 |NA:U47413 |NA:U53328 |NA:X77794 |NA:none PAC|XP:NP_004051 SYM|CCNG1 NAM|cyclin G1 SYN|CCNG FNC|cyclin G1 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |mitosis ; GO:0007067 |cytokinesis ; GO:0000910 REAB|The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) |whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins |reported in mammals, cyclins A through H, share a conserved amino acid sequence |of about 90 residues called the cyclin box. The amino acid sequence of cyclin G |is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin |G2 are 53% identical. Cyclin G1 lacks the protein destabilizing (PEST) sequence |that is present in previously identified cyclins. The cyclin G1 gene has been identified |as a target for transcriptional activation by the p53 tumor suppressor protein. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79101 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=900[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230209 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004060 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004060 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79101 DBL|UNIGENE:Hs.79101 |OMIM:601578 |SNP:900 MAP|5q32-q34 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccng1; score == 543; expect == 4e-155; MEOW:MGgn0001131 (92%) |species == rat; score == 526; expect == 5e-150; MEOW:ref|NP_037055.1| (94%) |species == Human; gene == CCNG2; score == 281; expect == 3.9e-76; MEOW:HUgn0000901 (52%) } # EOR GENR { RETE|ID 1 HUgn0000901 CHR 1 4 DID 1 LocusLink:901 MAP 1 4q21.22 NAM 1 cyclin G2 ORG 1 Homo sapiens SYM 1 CCNG2 ID|HUgn0000901 DID|LocusLink:901 ORG|Homo sapiens RSQ|REFSEQ:NM_004354 RPA|REFPROT:NP_004345 DBA|XM:NM_004354 |NA:BC032518 |NA:L49506 |NA:U47414 |NA:none PAC|XP:NP_004345 SYM|CCNG2 NAM|cyclin G2 FNC|cyclin G2 REAB|The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) |whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins |reported in mammals, cyclins A through H, share a conserved amino acid sequence |of about 90 residues called the cyclin box. The amino acid sequence of cyclin G |is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin |G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein |destabilization motif, suggesting that cyclin G2 expression is tightly regulated |through the cell cycle. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13291 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=901[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6837717 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004354 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004354 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=13291 DBL|UNIGENE:Hs.13291 |OMIM:603203 |SNP:901 MAP|4q21.22 HG|species == rat; score == 554; expect == 3e-158; MEOW:ref|XP_223270.2| (90%) |species == Mouse; gene == Ccng2; score == 544; expect == 2e-155; MEOW:MGgn0001133 (88%) |species == Human; gene == CCNG1; score == 281; expect == 3.9e-76; MEOW:HUgn0000900 (52%) } # EOR GENR { RETE|ID 1 HUgn0000902 CHR 1 5 DID 1 LocusLink:902 MAP 1 5q13.3-q14 NAM 1 cyclin H ORG 1 Homo sapiens SYM 1 CCNH ID|HUgn0000902 DID|LocusLink:902 ORG|Homo sapiens RSQ|REFSEQ:NM_001239 RPA|REFPROT:NP_001230 DBA|XM:NM_001239 |NA:BC005280 |NA:BC016705 |NA:BC016823 |NA:BC022351 |NA:BF510957 |NA:BG718714 |NA:BX537673 |NA:U11791 |NA:U12685 |NA:none PAC|XP:NP_001230 SYM|CCNH NAM|cyclin H SYN|CAK |p34 |p37 FNC|cyclin H |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |regulation of transcription, DNA-dependent ; GO:0006355 |DNA repair ; GO:0006281 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase |and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and |CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its |kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. |They participate in two different transcriptional regulation processes, suggesting |an important link between basal transcription control and the cell cycle machinery. CHR|5 PRD|CDK-activating kinase |MO15-associated protein |cyclin-dependent kinase-activating kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=514 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=902[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386531 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001239 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001239 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=514 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.514 |OMIM:601953 |SNP:902 MAP|5q13.3-q14 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ccnh; score == 595; expect == 5e-171; MEOW:MGgn0026381 (95%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_443213.2| (94%) |species == Fruitfly; gene == CycH; score == 245; expect == 3.5e-65; MEOW:FBgn0022936 (47%) |species == Mosquito; gene == LOC19240; score == 238; expect == 4.3e-63; MEOW:AGgn0019240 (47%) |species == Weed; gene == CYCH;1; score == 138; expect == 3.8e-33; MEOW:ATgn0025642 (31%) |species == rice; score == 130; expect == 9.9e-31; MEOW:gnl|TIGR|8360.m04717 (33%) } # EOR GENR { RETE|ID 1 HUgn0000904 CHR 1 12 DID 1 LocusLink:904 MAP 1 12pter-qter NAM 1 cyclin T1 ORG 1 Homo sapiens SYM 1 CCNT1 ID|HUgn0000904 DID|LocusLink:904 ORG|Homo sapiens RSQ|REFSEQ:NM_001240 RPA|REFPROT:NP_001231 DBA|XM:NM_001240 |NA:AF255307 |NA:AF045161 |NA:AF048730 |NA:none PAC|XP:NP_001231 SYM|CCNT1 NAM|cyclin T1 SYN|CCNT |CYCT1 FNC|cyclin T1 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin tightly associates with CDK9 kinase, |and was found to be a major subunit of the transcription elongation factor p-TEFb. |The kinase complex containing this cyclin and the elongation factor can interact |with, and act as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, |and was shown to be both necessary and sufficient for full activation of viral transcription. |This cyclin and its kinase partner were also found to be involved in the phosphorylation |and regulation of the carboxy-terminal domain (CTD) of the largest RNA polymerase |II subunit. CHR|12 PRD|cyclin C-related protein |CDK9-associated C-type protein |subunit of positive elongation transcription factor b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279906 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=904[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836475 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001240 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001240 DBL|UNIGENE:Hs.279906 |OMIM:602506 |SNP:904 MAP|12pter-qter CEL|nucleus ; GO:0005634 HG|species == chimp; score == 1268; expect == 0.0; MEOW:sp|Q8HXN7|Q8HXN7 (99%) |species == Mouse; gene == Ccnt1; score == 1159; expect == 0.0; MEOW:MGgn0001136 (89%) |species == rat; score == 1127; expect == 0.0; MEOW:ref|XP_235633.2| (86%) |species == Human; gene == CCNT2; score == 486; expect == 2e-137; MEOW:HUgn0000905 (49%) |species == Fruitfly; gene == CycT; score == 322; expect == 3.6e-88; MEOW:FBgn0025455 (57%) |species == Mosquito; score == 151; expect == 1.0e-36; MEOW:AGgn0012356 (35%) |species == Weed; gene == At4g19600; score == 149; expect == 4.2e-36; MEOW:ATgn0020136 (28%) |species == Weed; gene == At5g45190; score == 146; expect == 4.7e-35; MEOW:ATgn0024623 (35%) |species == Weed; gene == At1g27630; score == 132; expect == 5.3e-31; MEOW:ATgn0002427 (33%) } # EOR GENR { RETE|ID 1 HUgn0000905 CHR 1 2 DID 1 LocusLink:905 MAP 1 2q21.3 NAM 1 cyclin T2 ORG 1 Homo sapiens SYM 1 CCNT2 ID|HUgn0000905 DID|LocusLink:905 ORG|Homo sapiens RSQ|REFSEQ:NM_001241 |REFSEQ:NM_058241 RPA|REFPROT:NP_001232 |REFPROT:NP_490595 DBA|XM:NM_001241 |XM:NM_058241 |NA:AJ297062 |NA:AF048731 |NA:AF048732 |NA:BX648174 |NA:none PAC|XP:NP_001232 |XP:NP_490595 SYM|CCNT2 NAM|cyclin T2 FNC|cyclin T2 isoform a |cyclin T2 isoform b |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene belongs to the highly conserved cyclin family, whose |members are characterized by a dramatic periodicity in protein abundance through |the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins |exhibit distinct expression and degradation patterns which contribute to the temporal |coordination of each mitotic event. This cyclin and its kinase partner CDK9 were |found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex |containing this cyclin was reported to interact with, and act as a negative regulator |of human immunodeficiency virus type 1 (HIV-1) Tat protein. Two alternatively spliced |transcript variants, which encode distinct isoforms, have been described. CHR|2 PRD|cyclin T2a |cyclin T2b |SDS-stable vimentin-bound DNA fragment HEF42VIM22 |subunit of positive elongation transcription factor b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=292754 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=905[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836476 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_058241 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_058241 DBL|UNIGENE:Hs.292754 |OMIM:603862 |SNP:905 MAP|2q21.3 CEL|nucleus ; GO:0005634 HG|species == rat; score == 989; expect == 0.0; MEOW:ref|XP_222617.2| (83%) |species == chimp; score == 487; expect == 1e-139; MEOW:sp|Q8HXN7|Q8HXN7 (49%) |species == Human; gene == CCNT1; score == 486; expect == 2e-137; MEOW:HUgn0000904 (49%) |species == Mouse; gene == Ccnt1; score == 483; expect == 1e-136; MEOW:MGgn0001136 (50%) |species == Fruitfly; gene == CycT; score == 327; expect == 1.0e-89; MEOW:FBgn0025455 (59%) |species == Weed; gene == At5g45190; score == 147; expect == 2.5e-35; MEOW:ATgn0024623 (29%) |species == Mosquito; score == 146; expect == 1.6e-35; MEOW:AGgn0012356 (34%) |species == Weed; gene == At4g19600; score == 144; expect == 1.3e-34; MEOW:ATgn0020136 (34%) } # EOR GENR { RETE|ID 1 HUgn0000906 CHR 1 19 DID 1 LocusLink:906 MAP 1 19q12-q13.2 NAM 1 central core disease of muscle ORG 1 Homo sapiens SYM 1 CCO ID|HUgn0000906 DID|LocusLink:906 ORG|Homo sapiens SYM|CCO NAM|central core disease of muscle CHR|19 MAP|19q12-q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119755 } # EOR GENR { RETE|ID 1 HUgn0000907 CHR 1 X DID 1 LocusLink:907 MAP 1 X NAM 1 cataract, congenital, total ORG 1 Homo sapiens SYM 1 CCT ID|HUgn0000907 DID|LocusLink:907 ORG|Homo sapiens SYM|CCT NAM|cataract, congenital, total CHR|X PRD|Cataracts, congenital total DBL|OMIM:302200 MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119756 } # EOR GENR { RETE|ID 1 HUgn0000908 CHR 1 7 DID 1 LocusLink:908 MAP 1 7p11.2 NAM 1 chaperonin containing TCP1, subunit 6A (zeta 1) ORG 1 Homo sapiens SYM 1 CCT6A ID|HUgn0000908 DID|LocusLink:908 ORG|Homo sapiens RSQ|REFSEQ:NM_001762 RPA|REFPROT:NP_001753 DBA|XM:NM_001762 |XM:NM_001762 |NA:AB063318 |NA:AF385084 |NA:L27706 |NA:M94083 |NA:none PAC|XP:NP_001753 |XP:NP_001753 SYM|CCT6A NAM|chaperonin containing TCP1, subunit 6A (zeta 1) SYN|CCT6 |Cctz |HTR3 |TCPZ |TCP20 |TTCP20 FNC|chaperonin containing TCP1, subunit 6A (zeta 1) |protein folding ; GO:0006457 CHR|7 PRD|chaperonin containing T-complex subunit 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82916 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=908[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134031 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001762 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001762 DBL|UNIGENE:Hs.82916 |OMIM:104613 |SNP:908 MAP|7p11.2 ENZ|ATP binding ; GO:0005524 |chaperone activity ; GO:0003754 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 965; expect == 0.0; MEOW:ref|XP_213765.2| (96%) |species == Mouse; gene == Cct6a; score == 964; expect == 0.0; MEOW:MGgn0001147 (96%) |species == rat; score == 846; expect == 0.0; MEOW:ref|XP_220957.2| (86%) |species == Mouse; gene == Cct6b; score == 830; expect == 0.0; MEOW:MGgn0001148 (81%) |species == Human; gene == CCT6B; score == 822; expect == 0.0; MEOW:HUgn0010693 (82%) |species == rat; score == 778; expect == 0.0; MEOW:ref|XP_237260.2| (79%) |species == Mosquito; gene == LOC14237; score == 736; expect == 0.0; MEOW:AGgn0014237 (68%) |species == Fruitfly; gene == CG8231; score == 722; expect == 0.0; MEOW:FBgn0030681 (69%) |species == Weed; gene == At3g02530; score == 669; expect == 0.0; MEOW:ATgn0012996 (62%) |species == Weed; gene == At5g16070; score == 663; expect == 0.0; MEOW:ATgn0022505 (62%) |species == Worm; gene == cct-6; score == 655; expect == 0.0; MEOW:CEgn0000143 (66%) |species == Yeast; gene == CCT6; score == 593; expect == 8e-170; MEOW:SGgn0002596 (56%) |species == Zfish; gene == cct3; score == 256; expect == 1.7e-68; MEOW:ZFgn0002522 (27%) |species == Zfish; gene == cct7; score == 238; expect == 8.4e-63; MEOW:ZFgn0002568 (28%) |species == rice; score == 238; expect == 6.6e-63; MEOW:gnl|TIGR|8354.m03161 (27%) |species == rice; score == 232; expect == 4.5e-61; MEOW:gnl|TIGR|8354.m03368 (31%) |species == rice; score == 224; expect == 7.0e-59; MEOW:gnl|TIGR|8360.m03778 (29%) |species == rice; score == 204; expect == 1.0e-52; MEOW:gnl|TIGR|8360.m05313 (27%) |species == rice; score == 200; expect == 4.1e-51; MEOW:gnl|TIGR|8354.m04438 (27%) |species == rice; score == 198; expect == 6.8e-51; MEOW:gnl|TIGR|8353.m04275 (27%) |species == rice; score == 195; expect == 1.3e-49; MEOW:gnl|TIGR|8352.m04319 (27%) |species == rice; score == 191; expect == 1.9e-48; MEOW:gnl|TIGR|8351.m02141 (27%) } # EOR GENR { RETE|ID 1 HUgn0000909 CHR 1 1 DID 1 LocusLink:909 MAP 1 1q22-q23 NAM 1 CD1A antigen, a polypeptide ORG 1 Homo sapiens SYM 1 CD1A ID|HUgn0000909 DID|LocusLink:909 ORG|Homo sapiens RSQ|REFSEQ:NM_001763 RPA|REFPROT:NP_001754 DBA|XM:NM_001763 |NA:AF142665 |NA:M14663 |NA:M22167 |NA:BC031645 |NA:M27735 |NA:M28825 |NA:X04450 |NA:none PAC|XP:NP_001754 SYM|CD1A NAM|CD1A antigen, a polypeptide SYN|CD1 FNC|CD1A antigen precursor |immune response ; GO:0006955 CHR|1 PRD|hTa1 thymocyte antigen |thymocyte antigen CD1A |T-cell surface antigen T6/Leu-6 |T-cell surface glycoprotein CD1a precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1309 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=909[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120575 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001763 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001763 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1309 DBL|UNIGENE:Hs.1309 |OMIM:188370 |SNP:909 |PROW:1450098843 MAP|1q22-q23 CEL|integral to plasma membrane ; GO:0005887 HG|species == Human; gene == CD1C; score == 366; expect == 1e-101; MEOW:HUgn0000911 (59%) |species == Human; gene == CD1B; score == 361; expect == 3e-100; MEOW:HUgn0000910 (60%) |species == Human; gene == CD1E; score == 353; expect == 7.0e-98; MEOW:HUgn0000913 (59%) |species == Human; gene == CD1D; score == 326; expect == 1.3e-89; MEOW:HUgn0000912 (54%) |species == rat; score == 308; expect == 3.6e-84; MEOW:ref|NP_058775.1| (50%) |species == Mouse; gene == Cd1d1; score == 295; expect == 2.4e-80; MEOW:MGgn0001161 (50%) |species == Mouse; gene == Cd1d2; score == 284; expect == 5.5e-77; MEOW:MGgn0001162 (49%) } # EOR GENR { RETE|ID 1 HUgn0000910 CHR 1 1 DID 1 LocusLink:910 MAP 1 1q22-q23 NAM 1 CD1B antigen, b polypeptide ORG 1 Homo sapiens SYM 1 CD1B ID|HUgn0000910 DID|LocusLink:910 ORG|Homo sapiens RSQ|REFSEQ:NM_001764 RPA|REFPROT:NP_001755 DBA|XM:NM_001764 |NA:M14665 |NA:M22173 |NA:M28826 |NA:none PAC|XP:NP_001755 SYM|CD1B NAM|CD1B antigen, b polypeptide SYN|CD1 FNC|CD1B antigen, b polypeptide |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|1 PRD|Thymocyte antigen CD1B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1310 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=910[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120576 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001764 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001764 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26194 DBL|UNIGENE:Hs.1310 |OMIM:188360 |SNP:910 |PROW:875398153 MAP|1q22-q23 CEL|endosome ; GO:0005768 |integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Human; gene == CD1C; score == 369; expect == 1e-102; MEOW:HUgn0000911 (60%) |species == Human; gene == CD1A; score == 361; expect == 3e-100; MEOW:HUgn0000909 (60%) |species == Human; gene == CD1E; score == 354; expect == 3.1e-98; MEOW:HUgn0000913 (60%) |species == Human; gene == CD1D; score == 323; expect == 6.2e-89; MEOW:HUgn0000912 (58%) |species == rat; score == 294; expect == 5.3e-80; MEOW:ref|NP_058775.1| (47%) |species == Mouse; gene == Cd1d1; score == 280; expect == 1.0e-75; MEOW:MGgn0001161 (49%) |species == Mouse; gene == Cd1d2; score == 270; expect == 8.3e-73; MEOW:MGgn0001162 (48%) } # EOR GENR { RETE|ID 1 HUgn0000911 CHR 1 1 DID 1 LocusLink:911 MAP 1 1q22-q23 NAM 1 CD1C antigen, c polypeptide ORG 1 Homo sapiens SYM 1 CD1C ID|HUgn0000911 DID|LocusLink:911 ORG|Homo sapiens RSQ|REFSEQ:NM_001765 RPA|REFPROT:NP_001756 DBA|XM:NM_001765 |NA:M14667 |NA:M22178 |NA:M28827 |NA:none PAC|XP:NP_001756 SYM|CD1C NAM|CD1C antigen, c polypeptide SYN|CD1 FNC|CD1C antigen, c polypeptide |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|1 PRD|Thymocyte antigen CD1C URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1311 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120577 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001765 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001765 DBL|UNIGENE:Hs.1311 |OMIM:188340 |SNP:911 |PROW:1512027244 MAP|1q22-q23 CEL|integral to plasma membrane ; GO:0005887 HG|species == Human; gene == CD1B; score == 369; expect == 1e-102; MEOW:HUgn0000910 (60%) |species == Human; gene == CD1A; score == 366; expect == 1e-101; MEOW:HUgn0000909 (59%) |species == Human; gene == CD1E; score == 334; expect == 5.7e-92; MEOW:HUgn0000913 (54%) |species == Human; gene == CD1D; score == 306; expect == 1.0e-83; MEOW:HUgn0000912 (49%) |species == Mouse; gene == Cd1d1; score == 282; expect == 2.7e-76; MEOW:MGgn0001161 (47%) |species == rat; score == 277; expect == 5.2e-75; MEOW:ref|NP_058775.1| (48%) |species == Mouse; gene == Cd1d2; score == 272; expect == 2.2e-73; MEOW:MGgn0001162 (46%) } # EOR GENR { RETE|ID 1 HUgn0000912 CHR 1 1 DID 1 LocusLink:912 MAP 1 1q22-q23 NAM 1 CD1D antigen, d polypeptide ORG 1 Homo sapiens SYM 1 CD1D ID|HUgn0000912 DID|LocusLink:912 ORG|Homo sapiens RSQ|REFSEQ:NM_001766 RPA|REFPROT:NP_001757 DBA|XM:NM_001766 |NA:AF142668 |NA:L38820 |NA:M14664 |NA:X14974 |NA:BC027926 |NA:J04142 |NA:none PAC|XP:NP_001757 SYM|CD1D NAM|CD1D antigen, d polypeptide FNC|CD1D antigen, d polypeptide |perception of bacteria ; GO:0016045 |T-cell selection ; GO:0045058 |positive regulation of innate immune response ; GO:0045089 |antigen presentation, endogenous peptide antigen ; GO:0048004 |antigen presentation, endogenous lipid antigen ; GO:0048006 REAB|CD1D is the sole group-2 member of the CD1 family of major histocompatibility (MHC)-like |glycoproteins. See CD1A (MIM 188370) for background on CD1 molecules.[supplied by |OMIM] CHR|1 PRD|Thymocyte antigen CD1D URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1799 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=912[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118764 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001766 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001766 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1799 DBL|UNIGENE:Hs.1799 |OMIM:188410 |SNP:912 |PROW:198524897 MAP|1q22-q23 ENZ|lipid binding ; GO:0008289 |receptor activity ; GO:0004872 |protein heterodimerization activity ; GO:0046982 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 438; expect == 2e-123; MEOW:ref|NP_058775.1| (64%) |species == Mouse; gene == Cd1d1; score == 413; expect == 8e-116; MEOW:MGgn0001161 (65%) |species == Mouse; gene == Cd1d2; score == 411; expect == 3e-115; MEOW:MGgn0001162 (67%) |species == Human; gene == CD1E; score == 344; expect == 4.3e-95; MEOW:HUgn0000913 (60%) |species == Human; gene == CD1A; score == 326; expect == 1.3e-89; MEOW:HUgn0000909 (54%) |species == Human; gene == CD1B; score == 323; expect == 6.2e-89; MEOW:HUgn0000910 (58%) |species == Human; gene == CD1C; score == 306; expect == 1.0e-83; MEOW:HUgn0000911 (49%) } # EOR GENR { RETE|ID 1 HUgn0000913 CHR 1 1 DID 1 LocusLink:913 MAP 1 1q22-q23 NAM 1 CD1E antigen, e polypeptide ORG 1 Homo sapiens SYM 1 CD1E ID|HUgn0000913 DID|LocusLink:913 ORG|Homo sapiens RSQ|REFSEQ:NM_030893 RPA|REFPROT:NP_112155 DBA|XM:NM_030893 |NA:AF142669 |NA:AJ251334 |NA:AJ251335 |NA:M14666 |NA:X14975 |NA:AJ289111 |NA:AJ289112 |NA:AJ289113 |NA:AJ289114 |NA:AJ289115 |NA:AJ289116 |NA:AJ289117 |NA:AJ289118 |NA:AJ289119 |NA:AJ289120 |NA:AJ289121 |NA:AJ289122 |NA:X79517 |NA:X79518 |NA:X79519 |NA:none PAC|XP:NP_112155 SYM|CD1E NAM|CD1E antigen, e polypeptide SYN|HSCDIEL FNC|CD1E antigen, e polypeptide |immune response ; GO:0006955 CHR|1 PRD|CDIE.L |Thymocyte antigen CD1E URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249217 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119760 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_030893 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_030893 DBL|UNIGENE:Hs.249217 |OMIM:188411 |SNP:913 |PROW:14655348 MAP|1q22-q23 ENZ|defense/immunity protein activity ; GO:0003793 CEL|integral to plasma membrane ; GO:0005887 HG|species == Human; gene == CD1B; score == 354; expect == 3.1e-98; MEOW:HUgn0000910 (60%) |species == Human; gene == CD1A; score == 353; expect == 7.0e-98; MEOW:HUgn0000909 (59%) |species == Human; gene == CD1D; score == 344; expect == 4.3e-95; MEOW:HUgn0000912 (60%) |species == Human; gene == CD1C; score == 334; expect == 5.7e-92; MEOW:HUgn0000911 (54%) |species == rat; score == 306; expect == 1.0e-83; MEOW:ref|NP_058775.1| (52%) |species == Mouse; gene == Cd1d1; score == 300; expect == 3.6e-82; MEOW:MGgn0001161 (54%) |species == Mouse; gene == Cd1d2; score == 292; expect == 1.6e-79; MEOW:MGgn0001162 (53%) } # EOR GENR { RETE|ID 1 HUgn0000914 CHR 1 1 DID 1 LocusLink:914 MAP 1 1p13 NAM 1 CD2 antigen (p50), sheep red blood cell receptor ORG 1 Homo sapiens SYM 1 CD2 ID|HUgn0000914 DID|LocusLink:914 ORG|Homo sapiens RSQ|REFSEQ:NM_001767 RPA|REFPROT:NP_001758 DBA|XM:NM_001767 |NA:M19806 |NA:X07871 |NA:BC033583 |NA:M14362 |NA:M16336 |NA:M16445 |NA:none PAC|XP:NP_001758 SYM|CD2 NAM|CD2 antigen (p50), sheep red blood cell receptor SYN|T11 |SRBC FNC|CD2 antigen (p50), sheep red blood cell receptor |induction of apoptosis ; GO:0006917 |cell surface receptor linked signal transduction ; GO:0007166 |cell-cell adhesion ; GO:0016337 |T-cell activation ; GO:0042110 |natural killer cell activation ; GO:0030101 |regulation of T-cell differentiation ; GO:0045580 |lipid raft polarization ; GO:0001766 CHR|1 PRD|lymphocyte-function antigen-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89476 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=914[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118735 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001767 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001767 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89476 DBL|UNIGENE:Hs.89476 |OMIM:186990 |SNP:914 |PROW:1351045068 MAP|1p13 ENZ|protein binding ; GO:0005515 |receptor activity ; GO:0004872 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd2; score == 263; expect == 5.4e-71; MEOW:MGgn0001163 (50%) |species == rat; score == 190; expect == 1.2e-48; MEOW:ref|XP_346639.1| (43%) } # EOR GENR { RETE|ID 1 HUgn0000915 CHR 1 11 DID 1 LocusLink:915 MAP 1 11q23 NAM 1 CD3D antigen, delta polypeptide (TiT3 complex) ORG 1 Homo sapiens SYM 1 CD3D ID|HUgn0000915 DID|LocusLink:915 ORG|Homo sapiens RSQ|REFSEQ:NM_000732 RPA|REFPROT:NP_000723 DBA|XM:NM_000732 |NA:M12727 |NA:X01451 |NA:X03934 |NA:BC039035 |NA:none PAC|XP:NP_000723 SYM|CD3D NAM|CD3D antigen, delta polypeptide (TiT3 complex) SYN|T3D |CD3-DELTA FNC|CD3D antigen, delta polypeptide (TiT3 complex) |cell surface receptor linked signal transduction ; GO:0007166 |protein complex assembly ; GO:0006461 |T-cell activation ; GO:0042110 |positive thymic T-cell selection ; GO:0045059 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=95327 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=915[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120578 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000732 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000732 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=95327 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26215 DBL|UNIGENE:Hs.95327 |OMIM:186790 |SNP:915 MAP|11q23 ENZ|protein binding ; GO:0005515 |transmembrane receptor activity ; GO:0004888 |protein heterodimerization activity ; GO:0046982 CEL|integral to membrane ; GO:0016021 |cytoplasm ; GO:0005737 |T-cell receptor complex ; GO:0042101 HG|species == rat; score == 240; expect == 3.2e-64; MEOW:ref|NP_037301.1| (69%) |species == Mouse; gene == Cd3d; score == 228; expect == 1.1e-60; MEOW:MGgn0001182 (64%) } # EOR GENR { RETE|ID 1 HUgn0000916 CHR 1 11 DID 1 LocusLink:916 MAP 1 11q23 NAM 1 CD3E antigen, epsilon polypeptide (TiT3 complex) ORG 1 Homo sapiens SYM 1 CD3E ID|HUgn0000916 DID|LocusLink:916 ORG|Homo sapiens RSQ|REFSEQ:NM_000733 RPA|REFPROT:NP_000724 DBA|XM:NM_000733 |NA:M23323 |NA:BC049847 |NA:X03884 |NA:none PAC|XP:NP_000724 SYM|CD3E NAM|CD3E antigen, epsilon polypeptide (TiT3 complex) SYN|T3E |TCRE FNC|CD3E antigen, epsilon polypeptide (TiT3 complex) |signal complex formation ; GO:0007172 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |protein complex assembly ; GO:0006461 |positive regulation of T-cell proliferation ; GO:0042102 |T-cell activation ; GO:0042110 |regulation of apoptosis ; GO:0042981 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=916[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119764 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000733 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000733 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3003 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26216 DBL|UNIGENE:Hs.3003 |OMIM:186830 |SNP:916 MAP|11q23 PHP|Immunodeficiency, T-cell receptor/CD3 complex ENZ|transmembrane receptor activity ; GO:0004888 |SH3-domain binding ; GO:0017124 |receptor signaling complex scaffold activity ; GO:0030159 |protein kinase binding ; GO:0019901 |protein heterodimerization activity ; GO:0046982 |T-cell receptor binding ; GO:0042608 CEL|integral to plasma membrane ; GO:0005887 |T-cell receptor complex ; GO:0042101 HG|species == rat; score == 223; expect == 7.4e-59; MEOW:ref|XP_236196.2| (61%) |species == Mouse; gene == Cd3e; score == 212; expect == 8.6e-56; MEOW:MGgn0001183 (58%) } # EOR GENR { RETE|ID 1 HUgn0000917 CHR 1 11 DID 1 LocusLink:917 MAP 1 11q23 NAM 1 CD3G antigen, gamma polypeptide (TiT3 complex) ORG 1 Homo sapiens SYM 1 CD3G ID|HUgn0000917 DID|LocusLink:917 ORG|Homo sapiens RSQ|REFSEQ:NM_000073 RPA|REFPROT:NP_000064 DBA|XM:NM_000073 |NA:X06026 |NA:X04145 |NA:none PAC|XP:NP_000064 SYM|CD3G NAM|CD3G antigen, gamma polypeptide (TiT3 complex) SYN|T3G |CD3-GAMMA FNC|CD3G gamma precursor |protein transport ; GO:0015031 |establishment and/or maintenance of cell polarity ; GO:0007163 |cell surface receptor linked signal transduction ; GO:0007166 |protein complex assembly ; GO:0006461 |T-cell activation ; GO:0042110 |thymocyte differentiation ; GO:0046652 |regulation of apoptosis ; GO:0042981 REAB|T cell antigen receptor (TCR) is associated on the T cell surface with a complex |of protein called CD3. CD3G (gamma chain) is one of the four peptides (gamma, delta, |epsilon and zeta) that form CD3. Defects in CD3G are associated with T cell immunodeficiency. CHR|11 PRD|CD3-gamma |T-cell receptor T3 gamma chain |T-cell antigen receptor complex, gamma subunit of T3 |T-cell surface glycoprotein CD3 gamma chain precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2259 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=917[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119765 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000073 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000073 DBL|UNIGENE:Hs.2259 |OMIM:186740 |SNP:917 MAP|11q23 PHP|Immunodeficiency due to defect in CD3-gamma ENZ|transmembrane receptor activity ; GO:0004888 |receptor signaling complex scaffold activity ; GO:0030159 |protein heterodimerization activity ; GO:0046982 |T-cell receptor binding ; GO:0042608 CEL|integral to plasma membrane ; GO:0005887 |T-cell receptor complex ; GO:0042101 HG|species == Mouse; gene == Cd3g; score == 255; expect == 8.1e-69; MEOW:MGgn0001184 (70%) |species == rat; score == 234; expect == 2.0e-62; MEOW:ref|XP_217136.1| (70%) } # EOR GENR { RETE|ID 1 HUgn0000918 DID 1 LocusLink:918 NAM 1 CD3W antigen, omega polypeptide (TiT3 complex) ORG 1 Homo sapiens SYM 1 CD3W ID|HUgn0000918 DID|LocusLink:918 ORG|Homo sapiens SYM|CD3W NAM|CD3W antigen, omega polypeptide (TiT3 complex) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118766 } # EOR GENR { RETE|ID 1 HUgn0000919 CHR 1 1 DID 1 LocusLink:919 MAP 1 1q22-q23 NAM 1 CD3Z antigen, zeta polypeptide (TiT3 complex) ORG 1 Homo sapiens SYM 1 CD3Z ID|HUgn0000919 DID|LocusLink:919 ORG|Homo sapiens RSQ|REFSEQ:NM_000734 |REFSEQ:NM_198053 RPA|REFPROT:NP_000725 |REFPROT:NP_932170 DBA|XM:NM_000734 |NA:S94400 |NA:S94404 |NA:S94414 |NA:AF228312 |NA:AK128376 |NA:BC025703 |NA:BI819937 |NA:J04132 |NA:X55510 |NA:X55511 |NA:X55512 |NA:none PAC|XP:NP_000725 SYM|CD3Z NAM|CD3Z antigen, zeta polypeptide (TiT3 complex) SYN|CD3H |CD3Q |TCRZ |CD3-ZETA FNC|T-cell receptor zeta chain isoform 1 precursor |T-cell receptor zeta chain isoform 2 precursor |cell surface receptor linked signal transduction ; GO:0007166 |cellular defense response ; GO:0006968 REAB|T-cell receptor zeta, together with T-cell receptor alpha/beta and gamma/delta heterodimers |and CD3-gamma, -delta, and -epsilon, forms the T-cell receptor-CD3 complex. The |zeta chain plays an important role in coupling antigen recognition to several intracellular |signal-transduction pathways. Low expression of the antigen results in impaired |immune response. Two alternatively spliced transcript variants encoding distinct |isoforms have been found for this gene. CHR|1 PRD|T-cell surface glycoprotein CD3 zeta chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=97087 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=919[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119766 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198053 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198053 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=97087 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26219 DBL|UNIGENE:Hs.97087 |OMIM:186780 |SNP:919 MAP|1q22-q23 PHP|CD3, zeta chain, deficiency ENZ|protein binding ; GO:0005515 |T-cell receptor activity ; GO:0004894 |receptor signaling protein activity ; GO:0005057 |transmembrane receptor activity ; GO:0004888 |protein homodimerization activity ; GO:0042803 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 279; expect == 4.2e-76; MEOW:ref|NP_740770.1| (84%) |species == Mouse; gene == Cd3z; score == 227; expect == 1.7e-60; MEOW:MGgn0001185 (79%) } # EOR GENR { RETE|ID 1 HUgn0000920 CHR 1 12 DID 1 LocusLink:920 MAP 1 12pter-p12 NAM 1 CD4 antigen (p55) ORG 1 Homo sapiens SYM 1 CD4 ID|HUgn0000920 DID|LocusLink:920 ORG|Homo sapiens RSQ|REFSEQ:NM_000616 RPA|REFPROT:NP_000607 DBA|XM:NM_000616 |NA:BC025782 |NA:M12807 |NA:none PAC|XP:NP_000607 SYM|CD4 NAM|CD4 antigen (p55) FNC|CD4 antigen (p55) |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |pathogenesis ; GO:0009405 |immune response ; GO:0006955 |T-cell differentiation ; GO:0030217 |T-cell selection ; GO:0045058 |positive regulation of interleukin-2 biosynthesis ; GO:0045086 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=17483 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=920[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119767 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000616 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000616 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=17483 DBL|UNIGENE:Hs.17483 |OMIM:186940 |SNP:920 |PROW:1246540099 MAP|12pter-p12 PHP|CD4+ lymphocyte deficiency |Lupus erythematosus, susceptibility to ENZ|internalization receptor activity ; GO:0015029 |coreceptor activity ; GO:0015026 |transmembrane receptor activity ; GO:0004888 |MHC class II protein binding ; GO:0042289 CEL|integral to membrane ; GO:0016021 |T-cell receptor complex ; GO:0042101 HG|species == chimp; score == 833; expect == 0.0; MEOW:sp|P16004|CD4_PANTR (98%) |species == rat; score == 448; expect == 4e-126; MEOW:ref|NP_036837.1| (53%) |species == Mouse; gene == Cd4; score == 423; expect == 7e-119; MEOW:MGgn0001186 (54%) } # EOR GENR { RETE|ID 1 HUgn0000921 CHR 1 11 DID 1 LocusLink:921 MAP 1 11q13 NAM 1 CD5 antigen (p56-62) ORG 1 Homo sapiens SYM 1 CD5 ID|HUgn0000921 DID|LocusLink:921 ORG|Homo sapiens RSQ|REFSEQ:NM_014207 RPA|REFPROT:NP_055022 DBA|XM:NM_014207 |NA:BC027901 |NA:X04391 |NA:none PAC|XP:NP_055022 SYM|CD5 NAM|CD5 antigen (p56-62) SYN|T1 |LEU1 FNC|CD5 antigen (p56-62) |cell recognition ; GO:0008037 |cell proliferation ; GO:0008283 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=58685 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=921[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120579 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014207 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014207 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=58685 DBL|UNIGENE:Hs.58685 |OMIM:153340 |SNP:921 |PROW:1378997327 MAP|11q13 ENZ|scavenger receptor activity ; GO:0005044 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd5; score == 538; expect == 1e-153; MEOW:MGgn0001189 (63%) |species == rat; score == 532; expect == 2e-151; MEOW:ref|NP_062168.1| (63%) } # EOR GENR { RETE|ID 1 HUgn0000922 CHR 1 1 DID 1 LocusLink:922 MAP 1 1q21-q23 NAM 1 CD5 antigen-like (scavenger receptor cysteine rich family) ORG 1 Homo sapiens SYM 1 CD5L ID|HUgn0000922 DID|LocusLink:922 ORG|Homo sapiens RSQ|REFSEQ:NM_005894 RPA|REFPROT:NP_005885 DBA|XM:NM_005894 |NA:AF011429 |NA:BC033586 |NA:U82812 |NA:none PAC|XP:NP_005885 SYM|CD5L NAM|CD5 antigen-like (scavenger receptor cysteine rich family) SYN|SP-ALPHA FNC|CD5 antigen-like (scavenger receptor cysteine rich family) |cellular defense response ; GO:0006968 |apoptosis ; GO:0006915 CHR|1 PRD|Spalpha URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=134035 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=922[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837026 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005894 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005894 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=134035 DBL|UNIGENE:Hs.134035 |OMIM:602592 |SNP:922 MAP|1q21-q23 ENZ|scavenger receptor activity ; GO:0005044 CEL|membrane ; GO:0016020 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Cd5l; score == 517; expect == 3e-147; MEOW:MGgn0001193 (68%) |species == rat; score == 503; expect == 1e-142; MEOW:ref|XP_227484.2| (67%) |species == Human; gene == DMBT1; score == 269; expect == 1.5e-72; MEOW:HUgn0001755 (39%) |species == Human; gene == M160; score == 265; expect == 1.9e-70; MEOW:HUgn0283316 (42%) |species == Human; gene == CD163; score == 260; expect == 6.8e-70; MEOW:HUgn0009332 (39%) |species == Human; gene == SRCRB4D; score == 257; expect == 1.4e-68; MEOW:HUgn0136853 (37%) |species == Human; gene == PRSS12; score == 243; expect == 1.5e-64; MEOW:HUgn0008492 (40%) |species == Human; gene == LOC375940; score == 236; expect == 1.1e-61; MEOW:HUgn0375940 (40%) } # EOR GENR { RETE|ID 1 HUgn0000923 CHR 1 11 DID 1 LocusLink:923 MAP 1 11q13 NAM 1 CD6 antigen ORG 1 Homo sapiens SYM 1 CD6 ID|HUgn0000923 DID|LocusLink:923 ORG|Homo sapiens RSQ|REFSEQ:NM_006725 RPA|REFPROT:NP_006716 DBA|XM:NM_006725 |NA:U34623 |NA:U34625 |NA:U66143 |NA:U66144 |NA:AK128419 |NA:BC033755 |NA:U66142 |NA:U66145 |NA:U66146 |NA:X60992 |NA:none PAC|XP:NP_006716 SYM|CD6 NAM|CD6 antigen SYN|TP120 FNC|CD6 antigen |cell adhesion ; GO:0007155 |immune response ; GO:0006955 CHR|11 PRD|Tp120 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436949 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=923[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5875380 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006725 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006725 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436949 DBL|UNIGENE:Hs.436949 |OMIM:186720 |SNP:923 |PROW:1437234615 MAP|11q13 ENZ|scavenger receptor activity ; GO:0005044 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 834; expect == 0.0; MEOW:ref|XP_219581.2| (71%) |species == Mouse; gene == Cd6; score == 726; expect == 0.0; MEOW:MGgn0001194 (68%) |species == Human; gene == DMBT1; score == 237; expect == 1.8e-62; MEOW:HUgn0001755 (36%) |species == Human; gene == CD163; score == 202; expect == 6.5e-52; MEOW:HUgn0009332 (33%) |species == Human; gene == CD5L; score == 193; expect == 1.8e-49; MEOW:HUgn0000922 (36%) |species == Human; gene == M160; score == 191; expect == 8.8e-49; MEOW:HUgn0283316 (37%) } # EOR GENR { RETE|ID 1 HUgn0000924 CHR 1 17 DID 1 LocusLink:924 MAP 1 17q25.2-q25.3 NAM 1 CD7 antigen (p41) ORG 1 Homo sapiens SYM 1 CD7 ID|HUgn0000924 DID|LocusLink:924 ORG|Homo sapiens RSQ|REFSEQ:NM_006137 RPA|REFPROT:NP_006128 DBA|XM:NM_006137 |NA:D00747 |NA:D00748 |NA:D00749 |NA:M37271 |NA:BC009293 |NA:BC013297 |NA:BI838777 |NA:X06180 |NA:none PAC|XP:NP_006128 SYM|CD7 NAM|CD7 antigen (p41) SYN|GP40 |TP41 |Tp40 |LEU-9 FNC|CD7 antigen precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |calcium ion transport ; GO:0006816 |cellular defense response ; GO:0006968 |T-cell activation ; GO:0042110 REAB|This gene encodes a transmembrane protein which is a member of the immunoglobulin |superfamily. This protein is found on thymocytes and mature T cells. It plays an |essential role in T-cell interactions and also in T-cell/B-cell interaction during |early lymphoid development. CHR|17 PRD|p41 protein |T-cell leukemia antigen |T-cell antigen CD7 precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36972 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=924[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119770 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006137 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006137 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=36972 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26234 DBL|UNIGENE:Hs.36972 |OMIM:186820 |SNP:924 MAP|17q25.2-q25.3 ENZ|receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 173; expect == 6.7e-44; MEOW:ref|XP_221216.1| (46%) |species == Mouse; gene == Cd7; score == 165; expect == 1.4e-41; MEOW:MGgn0001199 (47%) } # EOR GENR { RETE|ID 1 HUgn0000925 CHR 1 2 DID 1 LocusLink:925 MAP 1 2p12 NAM 1 CD8 antigen, alpha polypeptide (p32) ORG 1 Homo sapiens SYM 1 CD8A ID|HUgn0000925 DID|LocusLink:925 ORG|Homo sapiens RSQ|REFSEQ:NM_001768 |REFSEQ:NM_171827 RPA|REFPROT:NP_001759 |REFPROT:NP_741969 DBA|XM:NM_001768 |XM:NM_171827 |NA:M26313 |NA:M26314 |NA:M26315 |NA:M27161 |NA:AK097942 |NA:AK124156 |NA:AY039664 |NA:BC025715 |NA:M12824 |NA:M12828 PAC|XP:NP_001759 |XP:NP_741969 SYM|CD8A NAM|CD8 antigen, alpha polypeptide (p32) SYN|CD8 |MAL |p32 |Leu2 FNC|CD8 antigen alpha polypeptide isoform 1 precursor |CD8 antigen alpha polypeptide isoform 2 precursor REAB|The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes |that mediates efficient cell-cell interactions within the immune system. The CD8 |antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize |antigen displayed by an antigen presenting cell (APC) in the context of class I |MHC molecules. The functional coreceptor is either a homodimer composed of two alpha |chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and |beta chains share significant homology to immunoglobulin variable light chains. |This gene encodes the CD8 alpha chain isoforms. Two alternative transcripts encoding |distinct isoforms, one membrane associated and one secreted, have been identified. CHR|2 PRD|T8 T-cell antigen |T cell co-receptor |OKT8 T-cell antigen |T-cell antigen Leu2 |Leu2 T-lymphocyte antigen |T-cell surface glycoprotein CD8 alpha chain |T-lymphocyte differentiation antigen T8/Leu-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=85258 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=925[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120581 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001768 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001768 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=85258 DBL|UNIGENE:Hs.85258 |OMIM:186910 |SNP:925 MAP|2p12 ENZ|T-cell receptor activity ; GO:0004894 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 168; expect == 2.0e-42; MEOW:ref|NP_113726.1| (47%) |species == Mouse; gene == Cd8a; score == 164; expect == 3.4e-41; MEOW:MGgn0001208 (51%) } # EOR GENR { RETE|ID 1 HUgn0000926 CHR 1 2 DID 1 LocusLink:926 MAP 1 2p12 NAM 1 CD8 antigen, beta polypeptide 1 (p37) ORG 1 Homo sapiens SYM 1 CD8B1 ID|HUgn0000926 DID|LocusLink:926 ORG|Homo sapiens RSQ|REFSEQ:NM_004931 |REFSEQ:NM_172099 |REFSEQ:NM_172100 |REFSEQ:NM_172101 |REFSEQ:NM_172102 |REFSEQ:NM_172213 RPA|REFPROT:NP_004922 |REFPROT:NP_742097 |REFPROT:NP_742098 |REFPROT:NP_742099 |REFPROT:NP_742100 |REFPROT:NP_757362 DBA|XM:NM_004931 |XM:NM_172099 |XM:NM_172100 |XM:NM_172101 |XM:NM_172102 |XM:NM_172213 |NA:M17514 |NA:S55731 |NA:S87075 |NA:S87083 |NA:S87087 |NA:S87090 |NA:AW296309 |NA:AW611750 |NA:BQ004743 |NA:M36712 |NA:X13444 |NA:X13445 |NA:X13446 |NA:X13452 |NA:Y00805 PAC|XP:NP_004922 |XP:NP_742097 |XP:NP_742098 |XP:NP_742099 |XP:NP_742100 |XP:NP_757362 SYM|CD8B1 NAM|CD8 antigen, beta polypeptide 1 (p37) SYN|Ly3 |CD8B |LYT3 |Leu2 FNC|CD8 antigen beta polypeptide 1 isoform 1 precursor |CD8 antigen beta polypeptide 1 isoform 2 precursor |CD8 antigen beta polypeptide 1 isoform 3 precursor |CD8 antigen beta polypeptide 1 isoform 4 precursor |CD8 antigen beta polypeptide 1 isoform 5 precursor |CD8 antigen beta polypeptide 1 isoform 6 precursor REAB|The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes |that mediates efficient cell-cell interactions within the immune system. The CD8 |antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize |antigen displayed by an antigen presenting cell (APC) in the context of class I |MHC molecules. The functional coreceptor is either a homodimer composed of two alpha |chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and |beta chains share significant homology to immunoglobulin variable light chains. |This gene encodes the CD8 beta chain isoforms. Six alternative transcripts encoding |different isoforms, four membrane associated and two secreted, have been identified. |A pseudogene, also located on chromosome 2, has been identified. CHR|2 PRD|antigen CD8B |T-cell surface glycoprotein CD8 beta chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405667 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=926[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119771 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172099 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172099 DBL|UNIGENE:Hs.405667 |OMIM:186730 |SNP:926 MAP|2p12 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd8b; score == 165; expect == 1.5e-41; MEOW:MGgn0001209 (49%) |species == rat; score == 158; expect == 2.3e-39; MEOW:ref|NP_113727.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0000927 CHR 1 2 DID 1 LocusLink:927 MAP 1 2p12 NAM 1 CD8 antigen, beta polypeptide 2, pseudogene (p37) ORG 1 Homo sapiens SYM 1 CD8B2 ID|HUgn0000927 DID|LocusLink:927 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC108868 SYM|CD8B2 NAM|CD8 antigen, beta polypeptide 2, pseudogene (p37) CHR|2 PRD|CD8 antigen, beta polypeptide 2 (p37) |CD8 antigen beta polypeptide 1 pseudogene MAP|2p12 DBL|SNP:927 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:133726 } # EOR GENR { RETE|ID 1 HUgn0000928 CHR 1 12 DID 1 LocusLink:928 MAP 1 12p13.3 NAM 1 CD9 antigen (p24) ORG 1 Homo sapiens SYM 1 CD9 ID|HUgn0000928 DID|LocusLink:928 ORG|Homo sapiens RSQ|REFSEQ:NM_001769 RPA|REFPROT:NP_001760 DBA|XM:NM_001769 |NA:L08119 |NA:L08120 |NA:L08121 |NA:L08122 |NA:L08123 |NA:L08124 |NA:S60489 |NA:BC011988 |NA:L34068 |NA:M38690 |NA:X60111 |NA:none PAC|XP:NP_001760 SYM|CD9 NAM|CD9 antigen (p24) SYN|BA2 |P24 |MIC3 |MRP-1 |DRAP-27 FNC|CD9 antigen REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins and other transmembrane 4 superfamily proteins. |It can modulate cell adhesion and migration and also trigger platelet activation |and aggregation. In addition, the protein appears to promote muscle cell fusion |and support myotube maintenance. CHR|12 PRD|p24 antigen |leukocyte antigen MIC3 |motility related protein |antigen defined by monoclonal antibody 602-29 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387579 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=928[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120582 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001769 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001769 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=387579 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26247 DBL|UNIGENE:Hs.387579 |OMIM:143030 |SNP:928 |PROW:1473329167 MAP|12p13.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 367; expect == 4e-102; MEOW:ref|XP_342761.1| (91%) |species == Mouse; gene == Cd9; score == 358; expect == 1.1e-99; MEOW:MGgn0001210 (89%) |species == Zfish; gene == cd81; score == 217; expect == 3.8e-57; MEOW:ZFgn0000933 (48%) |species == Human; gene == CD81; score == 192; expect == 1.7e-49; MEOW:HUgn0000975 (43%) |species == chimp; score == 192; expect == 1.7e-49; MEOW:sp|P18582|CD81_HUMAN (43%) |species == Human; gene == TSPAN-2; score == 170; expect == 6.2e-43; MEOW:HUgn0010100 (46%) } # EOR GENR { RETE|ID 1 HUgn0000929 CHR 1 5 DID 1 LocusLink:929 MAP 1 5q22-q32 NAM 1 CD14 antigen ORG 1 Homo sapiens SYM 1 CD14 ID|HUgn0000929 DID|LocusLink:929 ORG|Homo sapiens RSQ|REFSEQ:NM_000591 RPA|REFPROT:NP_000582 DBA|XM:NM_000591 |NA:X06882 |NA:AF097942 |NA:BC010507 |NA:BT007331 |NA:M86511 |NA:X13334 |NA:none PAC|XP:NP_000582 SYM|CD14 NAM|CD14 antigen FNC|CD14 antigen precursor |phagocytosis ; GO:0006909 |cell surface receptor linked signal transduction ; GO:0007166 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |inflammatory response ; GO:0006954 REAB|CD14 is a surface protein preferentially expressed on monocytes/macrophages. It |binds lipopolysaccharide binding protein and recently has been shown to bind apoptotic |cells. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75627 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=929[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119759 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000591 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000591 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75627 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26188 DBL|UNIGENE:Hs.75627 |OMIM:158120 |SNP:929 |PROW:2131935697 MAP|5q22-q32 ENZ|peptidoglycan recognition activity ; GO:0016019 |antibacterial peptide activity ; GO:0003797 |GPI-anchored membrane-bound receptor ; GO:0015025 CEL|plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd14; score == 449; expect == 1e-126; MEOW:MGgn0001157 (65%) |species == rat; score == 414; expect == 5e-116; MEOW:ref|NP_068512.1| (64%) } # EOR GENR { RETE|ID 1 HUgn0000930 CHR 1 16 DID 1 LocusLink:930 MAP 1 16p11.2 NAM 1 CD19 antigen ORG 1 Homo sapiens SYM 1 CD19 ID|HUgn0000930 DID|LocusLink:930 ORG|Homo sapiens RSQ|REFSEQ:NM_001770 RPA|REFPROT:NP_001761 DBA|XM:NM_001770 |NA:AB052799 |NA:AF045018 |NA:M62550 |NA:M84371 |NA:AK130657 |NA:BC006338 |NA:BC052294 |NA:M21097 |NA:X13312 |NA:none PAC|XP:NP_001761 SYM|CD19 NAM|CD19 antigen SYN|B4 |MGC12802 FNC|CD19 antigen REAB|Lymphocytes proliferate and differentiate in response to various concentrations of |different antigens. The ability of the B cell to respond in a specific, yet sensitive |manner to the various antigens is achieved with the use of low-affinity antigen |receptors. This gene encodes a cell surface molecule which assembles with the antigen |receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent |stimulation. CHR|16 PRD|B-lymphocyte antigen CD19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=96023 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=930[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127605 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001770 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001770 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=96023 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26192 DBL|UNIGENE:Hs.96023 |OMIM:107265 |SNP:930 |PROW:1916589419 MAP|16p11.2 HG|species == Mouse; gene == Cd19; score == 614; expect == 3e-176; MEOW:MGgn0001160 (65%) |species == rat; score == 596; expect == 1e-170; MEOW:ref|XP_344962.1| (64%) } # EOR GENR { RETE|ID 1 HUgn0000931 CHR 1 11 DID 1 LocusLink:931 MAP 1 11q12 NAM 1 membrane-spanning 4-domains, subfamily A, member 1 ORG 1 Homo sapiens SYM 1 MS4A1 ID|HUgn0000931 DID|LocusLink:931 ORG|Homo sapiens RSQ|REFSEQ:NM_021950 |REFSEQ:NM_152866 |REFSEQ:NM_152867 RPA|REFPROT:NP_068769 |REFPROT:NP_690605 |REFPROT:NP_690606 DBA|XM:NM_021950 |XM:NM_152866 |XM:NM_152867 |NA:L23415 |NA:L23418 |NA:L23419 |NA:M27394 |NA:M27395 |NA:BC002807 |NA:X07203 |NA:X12530 |NA:none PAC|XP:NP_068769 |XP:NP_690605 |XP:NP_690606 SYM|MS4A1 NAM|membrane-spanning 4-domains, subfamily A, member 1 SYN|B1 |S7 |Bp35 |CD20 |MS4A2 |LEU-16 |MGC3969 FNC|membrane-spanning 4-domains, subfamily A, member 1 |immune response ; GO:0006955 |B-cell activation ; GO:0042113 REAB|This gene encodes a member of the membrane-spanning 4A gene family. Members of this |nascent protein family are characterized by common structural features and similar |intron/exon splice boundaries and display unique expression patterns among hematopoietic |cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule |which plays a role in the development and differentiation of B-cells into plasma |cells. This family member is localized to 11q12, among a cluster of family members. |Alternative splicing of this gene results in several transcript variants which encode |the same protein. CHR|11 PRD|CD20 antigen |CD20 receptor |B-lymphocyte cell-surface antigen B1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438040 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=931[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119761 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152866 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152866 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438040 DBL|UNIGENE:Hs.438040 |OMIM:112210 |SNP:931 MAP|11q12 ENZ|receptor signaling protein activity ; GO:0005057 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 399; expect == 1e-111; MEOW:ref|XP_219590.2| (76%) |species == Mouse; gene == Ms4a1; score == 377; expect == 4e-105; MEOW:MGgn0001164 (74%) } # EOR GENR { RETE|ID 1 HUgn0000932 CHR 1 11 DID 1 LocusLink:932 MAP 1 11q12 NAM 1 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) ORG 1 Homo sapiens SYM 1 MS4A3 ID|HUgn0000932 DID|LocusLink:932 ORG|Homo sapiens RSQ|REFSEQ:NM_006138 RPA|REFPROT:NP_006129 DBA|XM:NM_006138 |NA:AY095480 |NA:BC008487 |NA:L35848 |NA:none PAC|XP:NP_006129 SYM|MS4A3 NAM|membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) SYN|HTM4 |CD20L FNC|membrane-spanning 4-domains, subfamily A, member 3 REAB|This gene encodes a member of the membrane-spanning 4A gene family. Members of this |protein family are characterized by common structural features and similar intron/exon |splice boundaries and display unique expression patterns among hematopoietic cells |and nonlymphoid tissues. This family member likely plays a role in signal transduction |and may function as a subunit associated with receptor complexes. The gene encoding |this protein is localized to 11q12, among a cluster of related family members. Alternative |splicing may result in multiple transcript variants; however, not all variants have |been fully described. CHR|11 PRD|CD20 antigen-like |CD20 antigen homolog |IgE receptor beta chain |IgE receptor beta subunit |hematopoietic cell 4 transmembrane protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99960 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=932[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392702 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006138 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006138 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99960 DBL|UNIGENE:Hs.99960 |OMIM:606498 |SNP:932 MAP|11q12 ENZ|receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 186; expect == 1.5e-47; MEOW:ref|XP_219599.2| (60%) |species == Mouse; gene == Ms4a3; score == 175; expect == 1.2e-44; MEOW:MGgn0040143 (62%) } # EOR GENR { RETE|ID 1 HUgn0000933 CHR 1 19 DID 1 LocusLink:933 MAP 1 19q13.1 NAM 1 CD22 antigen ORG 1 Homo sapiens SYM 1 CD22 ID|HUgn0000933 DID|LocusLink:933 ORG|Homo sapiens RSQ|REFSEQ:NM_001771 RPA|REFPROT:NP_001762 DBA|XM:NM_001771 |NA:U62631 |NA:X52785 |NA:X59350 |NA:none PAC|XP:NP_001762 SYM|CD22 NAM|CD22 antigen SYN|SIGLEC-2 FNC|CD22 antigen |cell adhesion ; GO:0007155 |heterophilic cell adhesion ; GO:0007157 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|19 DBL|OMIM:107266 |SNP:933 |PROW:640918981 MAP|19q13.1 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=933[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127545 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001771 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001771 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26201 ENZ|sugar binding ; GO:0005529 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd22; score == 1017; expect == 0.0; MEOW:MGgn0001165 (59%) |species == rat; score == 991; expect == 0.0; MEOW:ref|XP_218523.2| (58%) |species == chimp; score == 636; expect == 0.0; MEOW:sp|Q9N1E6|CD22_PANTR (96%) |species == Human; gene == SN; score == 174; expect == 1.4e-43; MEOW:HUgn0006614 (25%) |species == Human; gene == CEACAM5; score == 140; expect == 4.0e-33; MEOW:HUgn0001048 (27%) } # EOR GENR { RETE|ID 1 HUgn0000934 CHR 1 6 DID 1 LocusLink:934 MAP 1 6q21 NAM 1 CD24 antigen (small cell lung carcinoma cluster 4 antigen) ORG 1 Homo sapiens SYM 1 CD24 ID|HUgn0000934 DID|LocusLink:934 ORG|Homo sapiens RSQ|REFSEQ:NM_013230 RPA|REFPROT:NP_037362 DBA|XM:NM_013230 |NA:AK026603 |NA:AK125531 |NA:BC007674 |NA:L33930 |NA:M58664 |NA:X69397 |NA:none PAC|XP:NP_037362 SYM|CD24 NAM|CD24 antigen (small cell lung carcinoma cluster 4 antigen) SYN|CD24A FNC|CD24 antigen (small cell lung carcinoma cluster 4 antigen) |humoral immune response ; GO:0006959 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=375108 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=934[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:383795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013230 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013230 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=375108 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26202 DBL|UNIGENE:Hs.375108 |OMIM:600074 |SNP:934 |PROW:270610370 MAP|6q21 CEL|plasma membrane ; GO:0005886 } # EOR GENR { RETE|ID 1 HUgn0000935 CHR 1 1 DID 1 LocusLink:935 MAP 1 1p36 NAM 1 CD24 antigen-like 1 ORG 1 Homo sapiens SYM 1 CD24L1 ID|HUgn0000935 DID|LocusLink:935 ORG|Homo sapiens SYM|CD24L1 NAM|CD24 antigen-like 1 CHR|1 MAP|1p36 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:383818 } # EOR GENR { RETE|ID 1 HUgn0000936 CHR 1 15 DID 1 LocusLink:936 MAP 1 15q21-q22 NAM 1 CD24 antigen-like 2 ORG 1 Homo sapiens SYM 1 CD24L2 ID|HUgn0000936 DID|LocusLink:936 ORG|Homo sapiens SYM|CD24L2 NAM|CD24 antigen-like 2 CHR|15 MAP|15q21-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:383819 } # EOR GENR { RETE|ID 1 HUgn0000937 CHR 1 20 DID 1 LocusLink:937 MAP 1 20 NAM 1 CD24 antigen-like 3 ORG 1 Homo sapiens SYM 1 CD24L3 ID|HUgn0000937 DID|LocusLink:937 ORG|Homo sapiens SYM|CD24L3 NAM|CD24 antigen-like 3 CHR|20 MAP|20 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:383821 } # EOR GENR { RETE|ID 1 HUgn0000938 CHR 1 Y DID 1 LocusLink:938 MAP 1 Y NAM 1 CD24 antigen-like 4 ORG 1 Homo sapiens SYM 1 CD24L4 ID|HUgn0000938 DID|LocusLink:938 ORG|Homo sapiens SYM|CD24L4 NAM|CD24 antigen-like 4 CHR|Y MAP|Y URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:383841 } # EOR GENR { RETE|ID 1 HUgn0000939 CHR 1 12 DID 1 LocusLink:939 MAP 1 12p13 NAM 1 tumor necrosis factor receptor superfamily, member 7 ORG 1 Homo sapiens SYM 1 TNFRSF7 ID|HUgn0000939 DID|LocusLink:939 ORG|Homo sapiens RSQ|REFSEQ:NM_001242 RPA|REFPROT:NP_001233 DBA|XM:NM_001242 |NA:BC012160 |NA:M63928 |NA:none PAC|XP:NP_001233 SYM|TNFRSF7 NAM|tumor necrosis factor receptor superfamily, member 7 SYN|T14 |CD27 |S152 |Tp55 |MGC20393 FNC|tumor necrosis factor receptor superfamily, member 7 precursor |induction of apoptosis ; GO:0006917 |cell surface receptor linked signal transduction ; GO:0007166 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |release of cytoplasmic sequestered NF-kappaB ; GO:0008588 |humoral defense mechanism (sensu Vertebrata) ; GO:0016064 |positive regulation of JNK cascade ; GO:0046330 |inhibition of caspase activation ; GO:0001719 |B-cell proliferation ; GO:0042100 |positive regulation of interferon-gamma biosynthesis ; GO:0045078 |positive regulation of B-cell differentiation ; GO:0045579 |positive regulation of T-cell differentiation ; GO:0045582 |positive regulation of protein secretion ; GO:0050714 REAB|The protein encoded by this gene is a member of the TNF-receptor superfamily. This |receptor is required for generation and long-term maintenance of T cell immunity. |It binds to ligand CD70, and plays a key role in regulating B-cell activation and |immunoglobulin synthesis. This receptor transduces signals that lead to the activation |of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to |mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic |protein, can bind to this receptor and is thought to play an important role in the |apoptosis induced by this receptor. CHR|12 PRD|CD27 antigen |CD27L receptor |T cell activation antigen CD27 |T cell antivation antigen S152 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355307 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=939[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132582 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001242 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001242 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355307 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA36615 DBL|UNIGENE:Hs.355307 |OMIM:186711 |SNP:939 |PROW:1771108682 MAP|12p13 ENZ|protein binding ; GO:0005515 |transmembrane receptor activity ; GO:0004888 |caspase inhibitor activity ; GO:0043027 CEL|extracellular ; GO:0005576 |integral to plasma membrane ; GO:0005887 } # EOR GENR { RETE|ID 1 HUgn0000940 CHR 1 2 DID 1 LocusLink:940 MAP 1 2q33 NAM 1 CD28 antigen (Tp44) ORG 1 Homo sapiens SYM 1 CD28 ID|HUgn0000940 DID|LocusLink:940 ORG|Homo sapiens RSQ|REFSEQ:NM_006139 RPA|REFPROT:NP_006130 DBA|XM:NM_006139 |NA:M37815 |NA:AF222341 |NA:AF222342 |NA:AF222343 |NA:J02988 |NA:none PAC|XP:NP_006130 SYM|CD28 NAM|CD28 antigen (Tp44) SYN|Tp44 FNC|CD28 antigen |humoral immune response ; GO:0006959 |cell surface receptor linked signal transduction ; GO:0007166 |positive regulation of T-cell proliferation ; GO:0042102 |positive regulation of anti-apoptosis ; GO:0045768 |cytokine biosynthesis ; GO:0042089 |positive regulation of viral genome replication ; GO:0045070 |positive regulation of protein biosynthesis ; GO:0045727 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1987 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=940[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118765 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006139 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006139 DBL|UNIGENE:Hs.1987 |OMIM:186760 |SNP:940 |PROW:1967978982 MAP|2q33 ENZ|coreceptor activity ; GO:0015026 |defense/immunity protein activity ; GO:0003793 |protein binding ; GO:0005515 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 301; expect == 2.3e-82; MEOW:ref|NP_037253.1| (69%) |species == Mouse; gene == Cd28; score == 295; expect == 6.5e-81; MEOW:MGgn0001169 (68%) } # EOR GENR { RETE|ID 1 HUgn0000941 CHR 1 3 DID 1 LocusLink:941 MAP 1 3q13.3-q21 NAM 1 CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) ORG 1 Homo sapiens SYM 1 CD80 ID|HUgn0000941 DID|LocusLink:941 ORG|Homo sapiens RSQ|REFSEQ:NM_005191 RPA|REFPROT:NP_005182 DBA|XM:NM_005191 |NA:M83077 |NA:BC042665 |NA:M27533 |NA:none PAC|XP:NP_005182 SYM|CD80 NAM|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) SYN|LAB7 |CD28LG |CD28LG1 FNC|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) |immune response ; GO:0006955 |signal transduction ; GO:0007165 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=838 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=941[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:251792 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005191 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005191 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=838 DBL|UNIGENE:Hs.838 |OMIM:112203 |SNP:941 |PROW:642335762 MAP|3q13.3-q21 ENZ|receptor binding ; GO:0005102 |receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 242; expect == 2.0e-64; MEOW:ref|NP_037058.1| (54%) |species == Mouse; gene == Cd80; score == 224; expect == 3.6e-59; MEOW:MGgn0001202 (46%) } # EOR GENR { RETE|ID 1 HUgn0000942 CHR 1 3 DID 1 LocusLink:942 MAP 1 3q21 NAM 1 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) ORG 1 Homo sapiens SYM 1 CD86 ID|HUgn0000942 DID|LocusLink:942 ORG|Homo sapiens RSQ|REFSEQ:NM_006889 |REFSEQ:NM_175862 RPA|REFPROT:NP_008820 |REFPROT:NP_787058 DBA|XM:NM_006889 |XM:NM_175862 |NA:U17722 |NA:BC040261 |NA:L25259 |NA:U04343 |NA:none PAC|XP:NP_008820 |XP:NP_787058 SYM|CD86 NAM|CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) SYN|B70 |B7-2 |LAB72 |CD28LG2 |MGC34413 FNC|CD86 antigen isoform 1 |CD86 antigen isoform 2 precursor |positive regulation of cell proliferation ; GO:0008284 |immune response ; GO:0006955 REAB|This gene encodes a type I membrane protein that is a member of the immunoglobulin |superfamily. This protein is expressed by antigen-presenting cells, and it is the |ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic |T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is |a costimulatory signal for activation of the T-cell. Binding of this protein with |cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation |and diminishes the immune response. Alternative splicing results in two transcript |variants encoding different isoforms. Additional transcript variants have been described, |but their full-length sequences have not been determined. CHR|3 PRD|B7-2 antigen |CD28 antigen ligand 2 |CTLA-4 counter-receptor B7.2 |B-lymphocyte activation antigen B7-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=27954 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=942[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433597 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006889 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006889 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=27954 DBL|UNIGENE:Hs.27954 |OMIM:601020 |SNP:942 |PROW:354181017 MAP|3q21 ENZ|receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd86; score == 270; expect == 6.7e-73; MEOW:MGgn0001207 (49%) |species == rat; score == 267; expect == 5.1e-72; MEOW:ref|NP_064466.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0000943 CHR 1 1 DID 1 LocusLink:943 MAP 1 1p36 NAM 1 tumor necrosis factor receptor superfamily, member 8 ORG 1 Homo sapiens SYM 1 TNFRSF8 ID|HUgn0000943 DID|LocusLink:943 ORG|Homo sapiens RSQ|REFSEQ:NM_001243 |REFSEQ:NM_152942 RPA|REFPROT:NP_001234 |REFPROT:NP_694421 DBA|XM:NM_001243 |XM:NM_152942 |NA:D86042 |NA:M83554 |NA:S75768 |NA:none PAC|XP:NP_001234 |XP:NP_694421 SYM|TNFRSF8 NAM|tumor necrosis factor receptor superfamily, member 8 SYN|CD30 |KI-1 |D1S166E FNC|tumor necrosis factor receptor superfamily, member 8 isoform 1 precursor |tumor necrosis factor receptor superfamily, member 8 isoform 2 |negative regulation of cell proliferation ; GO:0008285 |signal transduction ; GO:0007165 REAB|The protein encoded by this gene is a member of the TNF-receptor superfamily. This |receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and |TRAF5 can interact with this receptor, and mediate the signal transduction that |leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, |and also has been shown to limit the proliferative potential of autoreactive CD8 |effector T cells and protect the body against autoimmunity. Two alternatively spliced |transcript variants of this gene encoding distinct isoforms have been reported. CHR|1 PRD|CD30 antigen |Ki-1 antigen |CD30L receptor |cytokine receptor CD30 |lymphocyte activation antigen CD30 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1314 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=943[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131547 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001243 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001243 DBL|UNIGENE:Hs.1314 |OMIM:153243 |SNP:943 |PROW:987522133 MAP|1p36 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Tnfrsf8; score == 359; expect == 1.7e-99; MEOW:MGgn0012426 (40%) |species == rat; score == 292; expect == 4.3e-79; MEOW:ref|XP_346754.1| (57%) } # EOR GENR { RETE|ID 1 HUgn0000944 CHR 1 9 DID 1 LocusLink:944 MAP 1 9q33 NAM 1 tumor necrosis factor (ligand) superfamily, member 8 ORG 1 Homo sapiens SYM 1 TNFSF8 ID|HUgn0000944 DID|LocusLink:944 ORG|Homo sapiens RSQ|REFSEQ:NM_001244 RPA|REFPROT:NP_001235 DBA|XM:NM_001244 |NA:AF006381 |NA:AF006382 |NA:AF006383 |NA:AF006384 |NA:AL583443 |NA:L09753 |NA:none PAC|XP:NP_001235 SYM|TNFSF8 NAM|tumor necrosis factor (ligand) superfamily, member 8 SYN|CD153 |CD30L |CD30LG FNC|tumor necrosis factor (ligand) superfamily, member 8 |induction of apoptosis ; GO:0006917 |immune response ; GO:0006955 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a cytokine that belongs to the tumor necrosis |factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is |a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic |malignancies. The engagement of this cytokine expressed on B cell surface plays |an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance |cell proliferation of some lymphoma cell lines, while to induce cell death and reduce |cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities |of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic |role in Hodgkin's and some non-Hodgkin's lymphomas. CHR|9 PRD|CD30 ligand |CD153 antigen |CD30 antigen ligand URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177136 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=944[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:215625 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001244 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001244 DBL|UNIGENE:Hs.177136 |OMIM:603875 |SNP:944 MAP|9q33 ENZ|tumor necrosis factor receptor binding ; GO:0005164 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Tnfsf8; score == 334; expect == 2.4e-92; MEOW:MGgn0012434 (69%) } # EOR GENR { RETE|ID 1 HUgn0000945 CHR 1 19 DID 1 LocusLink:945 MAP 1 19q13.3 NAM 1 CD33 antigen (gp67) ORG 1 Homo sapiens SYM 1 CD33 ID|HUgn0000945 DID|LocusLink:945 ORG|Homo sapiens RSQ|REFSEQ:NM_001772 RPA|REFPROT:NP_001763 DBA|XM:NM_001772 |NA:AY162464 |NA:BC028152 |NA:M23197 |NA:none PAC|XP:NP_001763 SYM|CD33 NAM|CD33 antigen (gp67) SYN|p67 |SIGLEC-3 FNC|CD33 antigen (gp67) |negative regulation of cell proliferation ; GO:0008285 |cell adhesion ; GO:0007155 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 |heterophilic cell adhesion ; GO:0007157 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83731 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=945[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119762 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001772 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001772 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83731 DBL|UNIGENE:Hs.83731 |OMIM:159590 |SNP:945 MAP|19q13.3 ENZ|sugar binding ; GO:0005529 |receptor activity ; GO:0004872 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == Human; gene == LOC284367; score == 312; expect == 1.6e-85; MEOW:HUgn0284367 (69%) |species == Human; gene == SIGLEC8; score == 295; expect == 2.7e-80; MEOW:HUgn0027181 (63%) |species == Human; gene == SIGLECL1; score == 293; expect == 1.9e-79; MEOW:HUgn0089858 (53%) |species == chimp; score == 290; expect == 2.1e-78; MEOW:sp|Q95LH0|SILL_PANTR (56%) |species == Human; gene == SIGLEC9; score == 287; expect == 1.3e-77; MEOW:HUgn0027180 (62%) |species == Human; gene == SIGLEC7; score == 286; expect == 1.2e-77; MEOW:HUgn0027036 (61%) |species == Human; gene == SIGLEC6; score == 281; expect == 5.2e-76; MEOW:HUgn0000946 (63%) |species == Mouse; gene == Cd33; score == 269; expect == 1.0e-72; MEOW:MGgn0001171 (49%) |species == rat; score == 262; expect == 2.1e-70; MEOW:ref|XP_341867.1| (48%) |species == rat; score == 256; expect == 1.4e-68; MEOW:ref|XP_218613.2| (55%) |species == Mouse; gene == 6430529G09Rik; score == 243; expect == 7.9e-65; MEOW:MGgn0041032 (58%) |species == rat; score == 243; expect == 1.6e-64; MEOW:ref|XP_218639.1| (52%) |species == Mouse; gene == Siglec5; score == 242; expect == 1.4e-64; MEOW:MGgn0028786 (52%) } # EOR GENR { RETE|ID 1 HUgn0000946 CHR 1 19 DID 1 LocusLink:946 MAP 1 19q13.3 NAM 1 sialic acid binding Ig-like lectin 6 ORG 1 Homo sapiens SYM 1 SIGLEC6 ID|HUgn0000946 DID|LocusLink:946 ORG|Homo sapiens RSQ|REFSEQ:NM_001245 RPA|REFPROT:NP_001236 DBA|XM:NM_001245 |NA:BC035359 |NA:D86358 |NA:U71382 |NA:none PAC|XP:NP_001236 SYM|SIGLEC6 NAM|sialic acid binding Ig-like lectin 6 SYN|CD33L |OBBP1 |CD33L1 |OB-BP1 |SIGLEC-6 FNC|sialic acid binding Ig-like lectin 6 |cell adhesion ; GO:0007155 |cell-cell signaling ; GO:0007267 |heterophilic cell adhesion ; GO:0007157 CHR|19 PRD|CD33 antigen-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=397255 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5218335 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001245 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001245 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=397255 DBL|UNIGENE:Hs.397255 |OMIM:604405 |SNP:946 MAP|19q13.3 ENZ|sugar binding ; GO:0005529 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Human; gene == SIGLECL1; score == 380; expect == 8e-106; MEOW:HUgn0089858 (49%) |species == chimp; score == 378; expect == 7e-107; MEOW:sp|Q95LH0|SILL_PANTR (49%) |species == Human; gene == SIGLEC7; score == 370; expect == 8e-103; MEOW:HUgn0027036 (48%) |species == Human; gene == SIGLEC9; score == 355; expect == 2.8e-98; MEOW:HUgn0027180 (49%) |species == Human; gene == SIGLEC5; score == 331; expect == 5.6e-91; MEOW:HUgn0008778 (56%) |species == Human; gene == SIGLEC8; score == 325; expect == 4.0e-89; MEOW:HUgn0027181 (49%) |species == Mouse; gene == Siglec5; score == 309; expect == 1.5e-84; MEOW:MGgn0028786 (43%) |species == rat; score == 301; expect == 6.3e-82; MEOW:ref|XP_218639.1| (41%) |species == rat; score == 274; expect == 1.3e-73; MEOW:ref|XP_218613.2| (49%) } # EOR GENR { RETE|ID 1 HUgn0000947 CHR 1 1 DID 1 LocusLink:947 MAP 1 1q32 NAM 1 CD34 antigen ORG 1 Homo sapiens SYM 1 CD34 ID|HUgn0000947 DID|LocusLink:947 ORG|Homo sapiens RSQ|REFSEQ:NM_001773 RPA|REFPROT:NP_001764 DBA|XM:NM_001773 |NA:M81945 |NA:AF523361 |NA:AK091890 |NA:BC039146 |NA:BX538076 |NA:M81104 |NA:S53910 |NA:S53911 |NA:none PAC|XP:NP_001764 SYM|CD34 NAM|CD34 antigen FNC|CD34 antigen |cell adhesion ; GO:0007155 REAB|CD34 is a monomeric cell surface antigen with a molecular mass of approximately 110 |kD that is selectively expressed on human hematopoietic progenitor cells.[supplied |by OMIM] CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374990 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=947[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125347 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001773 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001773 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374990 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26211 DBL|UNIGENE:Hs.374990 |OMIM:142230 |SNP:947 |PROW:968267813 MAP|1q32 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd34; score == 297; expect == 7.5e-81; MEOW:MGgn0001172 (57%) |species == rat; score == 273; expect == 9.5e-74; MEOW:ref|XP_223083.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0000948 CHR 1 7 DID 1 LocusLink:948 MAP 1 7q11.2 NAM 1 CD36 antigen (collagen type I receptor, thrombospondin receptor) ORG 1 Homo sapiens SYM 1 CD36 ID|HUgn0000948 DID|LocusLink:948 ORG|Homo sapiens RSQ|REFSEQ:NM_000072 RPA|REFPROT:NP_000063 DBA|XM:NM_000072 |XM:NM_000072 |NA:L06849 |NA:Z22924 |NA:Z32770 |NA:AK096858 |NA:AK129899 |NA:BC008406 |NA:L06850 |NA:M24795 |NA:M98398 |NA:M98399 |NA:S67044 |NA:S67532 |NA:none PAC|XP:NP_000063 |XP:NP_000063 SYM|CD36 NAM|CD36 antigen (collagen type I receptor, thrombospondin receptor) SYN|FAT |GP4 |GP3B |GPIV |SCARB3 FNC|CD36 antigen (collagen type I receptor, thrombospondin receptor) |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 |blood coagulation ; GO:0007596 |cell adhesion ; GO:0007155 REAB|CD36 is the receptor for thrombospondin and collagen in platelets. It plays important functions in cell adhesion. CHR|7 PRD|cluster determinant 36 |fatty acid translocase |CD36 antigen (collagen type I) |scavenger receptor class B, member 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443120 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=948[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138800 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000072 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000072 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443120 DBL|UNIGENE:Hs.443120 |OMIM:173510 |SNP:948 |PROW:1625576610 MAP|7q11.2 PHP|Macrothrombocytopenia |Malaria, cerebral, reduced risk of |Malaria, cerebral, susceptibility to |Platelet glycoprotein IV deficiency ENZ|receptor activity ; GO:0004872 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 818; expect == 0.0; MEOW:ref|XP_346686.1| (86%) |species == rat; score == 805; expect == 0.0; MEOW:ref|XP_216076.1| (84%) |species == Mouse; gene == Cd36; score == 795; expect == 0.0; MEOW:MGgn0001173 (83%) |species == rat; score == 681; expect == 0.0; MEOW:ref|XP_342624.1| (85%) |species == Zfish; gene == cd36l2; score == 275; expect == 2.7e-75; MEOW:ZFgn0002598 (34%) |species == Human; gene == SCARB2; score == 270; expect == 1.3e-72; MEOW:HUgn0000950 (34%) |species == Human; gene == SCARB1; score == 260; expect == 1.3e-69; MEOW:HUgn0000949 (32%) |species == Mosquito; gene == LOC12656; score == 205; expect == 4.4e-53; MEOW:AGgn0012656 (28%) |species == Mosquito; score == 191; expect == 5.5e-49; MEOW:AGgn0012643 (28%) |species == Fruitfly; gene == emp; score == 185; expect == 3.2e-47; MEOW:FBgn0010435 (28%) |species == Mosquito; gene == LOC12288; score == 181; expect == 5.7e-46; MEOW:AGgn0012288 (26%) |species == Fruitfly; gene == CG12789; score == 177; expect == 5.1e-45; MEOW:FBgn0025697 (26%) |species == Mosquito; gene == LOC14870; score == 174; expect == 1.1e-43; MEOW:AGgn0014870 (28%) |species == Mosquito; score == 174; expect == 1.1e-43; MEOW:AGgn0018685 (28%) |species == Fruitfly; gene == crq; score == 174; expect == 4.3e-44; MEOW:FBgn0015924 (24%) |species == Mosquito; score == 169; expect == 2.2e-42; MEOW:AGgn0010275 (27%) |species == Mosquito; gene == LOC22355; score == 165; expect == 3.1e-41; MEOW:AGgn0022355 (30%) |species == Mosquito; gene == LOC21903; score == 164; expect == 9.6e-41; MEOW:AGgn0021903 (27%) |species == Fruitfly; gene == BcDNA:RE68569; score == 159; expect == 1.9e-39; MEOW:FBgn0047064 (25%) |species == Fruitfly; gene == CG3829; score == 158; expect == 3.2e-39; MEOW:FBgn0035091 (27%) |species == Fruitfly; gene == CG1887; score == 154; expect == 7.8e-38; MEOW:FBgn0035290 (28%) |species == Fruitfly; gene == ninaD; score == 149; expect == 4.8e-36; MEOW:FBgn0002939 (25%) |species == Fruitfly; gene == CG7228; score == 148; expect == 4.3e-36; MEOW:FBgn0031969 (25%) |species == Worm; gene == Y49E10.20; score == 147; expect == 6.6e-36; MEOW:CEgn0019042 (26%) |species == Worm; gene == C03F11.3; score == 142; expect == 2.8e-34; MEOW:CEgn0003897 (24%) } # EOR GENR { RETE|ID 1 HUgn0000949 CHR 1 12 DID 1 LocusLink:949 MAP 1 12q24.31 NAM 1 scavenger receptor class B, member 1 ORG 1 Homo sapiens SYM 1 SCARB1 ID|HUgn0000949 DID|LocusLink:949 ORG|Homo sapiens RSQ|REFSEQ:NM_005505 RPA|REFPROT:NP_005496 DBA|XM:NM_005505 |NA:AF254409 |NA:BC022087 |NA:BC034322 |NA:Z22555 PAC|XP:NP_005496 SYM|SCARB1 NAM|scavenger receptor class B, member 1 SYN|CLA1 |SRB1 |CLA-1 |SR-BI |CD36L1 FNC|scavenger receptor class B, member 1 CHR|12 PRD|CD36 antigen-like 1 |scavenger receptor class B type 1 |CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130981 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=949[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228074 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005505 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005505 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA97 DBL|UNIGENE:Hs.130981 |OMIM:601040 |SNP:949 MAP|12q24.31 HG|species == Mouse; gene == Scarb1; score == 750; expect == 0.0; MEOW:MGgn0011236 (79%) |species == rat; score == 739; expect == 0.0; MEOW:ref|NP_113729.1| (78%) |species == Human; gene == SCARB2; score == 280; expect == 1.6e-75; MEOW:HUgn0000950 (34%) |species == Mosquito; gene == LOC12656; score == 261; expect == 6.7e-70; MEOW:AGgn0012656 (33%) |species == Human; gene == CD36; score == 260; expect == 1.3e-69; MEOW:HUgn0000948 (32%) |species == Zfish; gene == cd36l2; score == 259; expect == 1.8e-70; MEOW:ZFgn0002598 (32%) |species == Mosquito; gene == LOC12288; score == 236; expect == 2.2e-62; MEOW:AGgn0012288 (30%) |species == Fruitfly; gene == crq; score == 221; expect == 4.8e-58; MEOW:FBgn0015924 (30%) |species == Fruitfly; gene == emp; score == 219; expect == 1.8e-57; MEOW:FBgn0010435 (32%) |species == Mosquito; score == 217; expect == 1.4e-56; MEOW:AGgn0012643 (31%) |species == Fruitfly; gene == CG12789; score == 211; expect == 6.5e-55; MEOW:FBgn0025697 (30%) |species == Fruitfly; gene == CG31741; score == 205; expect == 3.2e-53; MEOW:FBgn0051741 (28%) |species == Fruitfly; gene == CG3829; score == 200; expect == 1.1e-51; MEOW:FBgn0035091 (29%) |species == Fruitfly; gene == ninaD; score == 196; expect == 2.0e-50; MEOW:FBgn0002939 (26%) |species == Fruitfly; gene == CG7228; score == 194; expect == 1.2e-49; MEOW:FBgn0031969 (27%) |species == Fruitfly; gene == BcDNA:RE68569; score == 193; expect == 1.8e-49; MEOW:FBgn0047064 (29%) |species == Fruitfly; gene == CG1887; score == 187; expect == 1.0e-47; MEOW:FBgn0035290 (30%) |species == Worm; gene == Y49E10.20; score == 144; expect == 1.1e-34; MEOW:CEgn0019042 (26%) } # EOR GENR { RETE|ID 1 HUgn0000950 CHR 1 4 DID 1 LocusLink:950 MAP 1 4q21.21-q21.22 NAM 1 scavenger receptor class B, member 2 ORG 1 Homo sapiens SYM 1 SCARB2 ID|HUgn0000950 DID|LocusLink:950 ORG|Homo sapiens RSQ|REFSEQ:NM_005506 RPA|REFPROT:NP_005497 DBA|XM:NM_005506 |NA:AK022432 |NA:AK056001 |NA:BC021892 |NA:BC035111 |NA:BQ924546 |NA:BT006939 |NA:BT007661 |NA:BX538257 |NA:CA395147 |NA:D12676 |NA:none PAC|XP:NP_005497 SYM|SCARB2 NAM|scavenger receptor class B, member 2 SYN|CD36L2 |HLGP85 |LIMPII FNC|scavenger receptor class B, member 2 |cell adhesion ; GO:0007155 REAB|The protein encoded by this gene is a type III glycoprotein that is located primarily |in limiting membranes of lysosomes and endosomes. Studies of the similar protein |in mice and rat suggested that this protein may participate in membrane transportation |and the reorganization of endosomal/lysosomal compartment. Deficiency of the similar |protein in mice was reported to impair cell membrane transport processes and cause |pelvic junction obstruction, deafness, and peripheral neuropathy. CHR|4 PRD|lysosomal integral membrane protein II |85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2 |CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=323567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=950[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:383649 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005506 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005506 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=323567 DBL|UNIGENE:Hs.323567 |OMIM:602257 |SNP:950 MAP|4q21.21-q21.22 ENZ|receptor activity ; GO:0004872 CEL|lysosomal membrane ; GO:0005765 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 840; expect == 0.0; MEOW:ref|NP_446453.1| (85%) |species == Mouse; gene == Scarb2; score == 839; expect == 0.0; MEOW:MGgn0001174 (85%) |species == Zfish; gene == cd36l2; score == 455; expect == 1e-129; MEOW:ZFgn0002598 (44%) |species == Human; gene == SCARB1; score == 280; expect == 1.6e-75; MEOW:HUgn0000949 (34%) |species == Human; gene == CD36; score == 270; expect == 1.3e-72; MEOW:HUgn0000948 (34%) |species == Mosquito; gene == LOC12656; score == 246; expect == 1.7e-65; MEOW:AGgn0012656 (33%) |species == Fruitfly; gene == emp; score == 233; expect == 1.0e-61; MEOW:FBgn0010435 (33%) |species == Mosquito; score == 212; expect == 2.4e-55; MEOW:AGgn0012643 (31%) |species == Fruitfly; gene == crq; score == 211; expect == 3.2e-55; MEOW:FBgn0015924 (32%) |species == Fruitfly; gene == CG1887; score == 209; expect == 2.1e-54; MEOW:FBgn0035290 (32%) |species == Mosquito; gene == LOC14870; score == 201; expect == 4.2e-52; MEOW:AGgn0014870 (30%) |species == Mosquito; score == 201; expect == 4.2e-52; MEOW:AGgn0018685 (30%) |species == Mosquito; gene == LOC22355; score == 199; expect == 2.5e-51; MEOW:AGgn0022355 (34%) |species == Fruitfly; gene == CG12789; score == 198; expect == 4.8e-51; MEOW:FBgn0025697 (28%) |species == Fruitfly; gene == CG7228; score == 198; expect == 2.8e-51; MEOW:FBgn0031969 (28%) |species == Worm; gene == Y49E10.20; score == 182; expect == 3.2e-46; MEOW:CEgn0019042 (28%) |species == Worm; gene == C03F11.3; score == 148; expect == 5.1e-36; MEOW:CEgn0003897 (27%) } # EOR GENR { RETE|ID 1 HUgn0000951 CHR 1 19 DID 1 LocusLink:951 MAP 1 19p13-q13.4 NAM 1 CD37 antigen ORG 1 Homo sapiens SYM 1 CD37 ID|HUgn0000951 DID|LocusLink:951 ORG|Homo sapiens RSQ|REFSEQ:NM_001774 RPA|REFPROT:NP_001765 DBA|XM:NM_001774 |NA:AK058093 |NA:AL833693 |NA:X14046 PAC|XP:NP_001765 SYM|CD37 NAM|CD37 antigen SYN|GP52-40 FNC|CD37 antigen |N-linked glycosylation ; GO:0006487 REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins and other transmembrane 4 superfamily proteins. |It may play a role in T-cell-B-cell interactions. CHR|19 PRD|leukocyte surface antigen CD37 |cell differentiation antigen 37 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153053 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=951[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138750 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001774 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001774 DBL|UNIGENE:Hs.153053 |OMIM:151523 |SNP:951 |PROW:1444704072 MAP|19p13-q13.4 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd37; score == 404; expect == 2e-113; MEOW:MGgn0001175 (80%) |species == rat; score == 401; expect == 2e-112; MEOW:ref|NP_058820.1| (79%) } # EOR GENR { RETE|ID 1 HUgn0000952 CHR 1 4 DID 1 LocusLink:952 MAP 1 4p15 NAM 1 CD38 antigen (p45) ORG 1 Homo sapiens SYM 1 CD38 ID|HUgn0000952 DID|LocusLink:952 ORG|Homo sapiens RSQ|REFSEQ:NM_001775 RPA|REFPROT:NP_001766 DBA|XM:NM_001775 |NA:AF001985 |NA:D84284 |NA:AA417096 |NA:BC007964 |NA:CD688069 |NA:D84276 |NA:D84277 |NA:M34461 |NA:none PAC|XP:NP_001766 SYM|CD38 NAM|CD38 antigen (p45) FNC|CD38 antigen (p45) |induction of apoptosis by extracellular signals ; GO:0008624 |energy pathways ; GO:0006091 |signal transduction ; GO:0007165 REAB|CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues |especially in leukocytes. CD38 also functions in cell adhesion,signal transduction |and calcium signaling [PROW] CHR|4 PRD|CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=174944 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=952[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119763 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001775 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001775 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=174944 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.174944 |OMIM:107270 |SNP:952 |PROW:4279266 MAP|4p15 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 ENZ|NAD nucleosidase activity ; GO:0003953 |hydrolase activity ; GO:0016787 HG|species == rat; score == 344; expect == 3.0e-95; MEOW:ref|NP_037259.1| (58%) |species == Mouse; gene == Cd38; score == 340; expect == 4.8e-94; MEOW:MGgn0001176 (59%) |species == Human; gene == BST1; score == 178; expect == 3.6e-45; MEOW:HUgn0000683 (36%) } # EOR GENR { RETE|ID 1 HUgn0000953 CHR 1 10 DID 1 LocusLink:953 MAP 1 10q24 NAM 1 ectonucleoside triphosphate diphosphohydrolase 1 ORG 1 Homo sapiens SYM 1 ENTPD1 ID|HUgn0000953 DID|LocusLink:953 ORG|Homo sapiens RSQ|REFSEQ:NM_001776 RPA|REFPROT:NP_001767 DBA|XM:NM_001776 |NA:AJ133133 |NA:AJ133134 |NA:BC047664 |NA:S73813 |NA:U87967 |NA:none PAC|XP:NP_001767 SYM|ENTPD1 NAM|ectonucleoside triphosphate diphosphohydrolase 1 SYN|CD39 |ATPDase |NTPDase-1 FNC|ectonucleoside triphosphate diphosphohydrolase 1 |blood coagulation ; GO:0007596 |cell adhesion ; GO:0007155 |cell-cell signaling ; GO:0007267 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|10 PRD|CD39 antigen |ecto-apyrase |ecto-ATP diphosphohydrolase |lymphoid cell activation antigen DBL|OMIM:601752 |SNP:953 ENZ|EC:3.6.1.5 |apyrase activity ; GO:0004050 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|10q24 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=953[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:422173 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001776 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001776 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Entpd1; score == 804; expect == 0.0; MEOW:MGgn0001177 (75%) |species == Human; gene == LOC377841; score == 379; expect == 2e-105; MEOW:HUgn0377841 (44%) |species == rat; score == 374; expect == 5e-104; MEOW:ref|NP_742027.1| (44%) |species == Human; gene == ENTPD3; score == 359; expect == 3.1e-99; MEOW:HUgn0000956 (40%) |species == rat; score == 359; expect == 2.4e-99; MEOW:ref|NP_835207.1| (41%) |species == rat; score == 330; expect == 1.5e-90; MEOW:ref|XP_231041.2| (42%) |species == Human; gene == ENTPD2; score == 327; expect == 1.3e-89; MEOW:HUgn0000954 (40%) |species == Weed; gene == At1g14240; score == 184; expect == 1.0e-46; MEOW:ATgn0002050 (29%) |species == Weed; gene == At1g14250; score == 180; expect == 1.8e-45; MEOW:ATgn0002051 (27%) |species == Weed; gene == At1g14230; score == 178; expect == 7.4e-45; MEOW:ATgn0002049 (29%) |species == Weed; gene == At2g02970; score == 176; expect == 2.2e-44; MEOW:ATgn0007930 (28%) |species == rice; score == 160; expect == 3.5e-39; MEOW:gnl|TIGR|8356.m03257 (29%) |species == Yeast; gene == YND1; score == 154; expect == 4.2e-38; MEOW:SGgn0000807 (25%) |species == Worm; gene == C33H5.14; score == 142; expect == 4.0e-34; MEOW:CEgn0005919 (26%) |species == Worm; gene == R07E4.4; score == 142; expect == 6.4e-34; MEOW:CEgn0014581 (25%) |species == rice; score == 142; expect == 1.3e-33; MEOW:gnl|TIGR|8362.m01522 (26%) } # EOR GENR { RETE|ID 1 HUgn0000954 CHR 1 9 DID 1 LocusLink:954 MAP 1 9q34 NAM 1 ectonucleoside triphosphate diphosphohydrolase 2 ORG 1 Homo sapiens SYM 1 ENTPD2 ID|HUgn0000954 DID|LocusLink:954 ORG|Homo sapiens RSQ|REFSEQ:NM_001246 RPA|REFPROT:NP_001237 DBA|XM:NM_001246 |NA:AF144748 |NA:BC011003 |NA:BC035738 |NA:U91510 |NA:none PAC|XP:NP_001237 SYM|ENTPD2 NAM|ectonucleoside triphosphate diphosphohydrolase 2 SYN|CD39L1 |NTPDase-2 FNC|ectonucleoside triphosphate diphosphohydrolase 2 REAB|Similar to Gallus gallus ecto-ATPase and Homo sapiens lymphoid cell activation antigen CD39 which functions as an ectopyrase. CHR|9 PRD|CD39-like-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123036 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=954[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9032976 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001246 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001246 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=123036 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.123036 |OMIM:602012 |SNP:954 MAP|9q34 CEL|integral to membrane ; GO:0016021 ENZ|magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 |ATPase activity, uncoupled ; GO:0042624 HG|species == Mouse; gene == Entpd2; score == 733; expect == 0.0; MEOW:MGgn0001178 (79%) |species == rat; score == 718; expect == 0.0; MEOW:ref|NP_742027.1| (78%) |species == Human; gene == ENTPD3; score == 362; expect == 4e-100; MEOW:HUgn0000956 (42%) |species == Human; gene == LOC377841; score == 336; expect == 1.5e-92; MEOW:HUgn0377841 (41%) |species == Human; gene == ENTPD1; score == 327; expect == 1.3e-89; MEOW:HUgn0000953 (40%) |species == Weed; gene == At1g14240; score == 132; expect == 4.3e-31; MEOW:ATgn0002050 (28%) |species == Weed; gene == At1g14250; score == 131; expect == 9.7e-31; MEOW:ATgn0002051 (29%) } # EOR GENR { RETE|ID 1 HUgn0000955 CHR 1 20 DID 1 LocusLink:955 MAP 1 20p11.2-p11.22 NAM 1 ectonucleoside triphosphate diphosphohydrolase 6 (putative function) ORG 1 Homo sapiens SYM 1 ENTPD6 ID|HUgn0000955 DID|LocusLink:955 ORG|Homo sapiens RSQ|REFSEQ:NM_001247 RPA|REFPROT:NP_001238 DBA|XM:NM_001247 |NA:AF039916 |NA:AK074691 |NA:AK128412 |NA:AL834158 |NA:AY327581 |NA:BC025980 |NA:none |NA:AF058296 PAC|XP:NP_001238 SYM|ENTPD6 NAM|ectonucleoside triphosphate diphosphohydrolase 6 (putative function) SYN|CD39L2 |IL6ST2 |IL-6SAG |NTPDase-6 |dJ738P15.3 FNC|ectonucleoside triphosphate diphosphohydrolase 6 REAB|ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate |catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions |which is characteristic of NTPases. CHR|20 PRD|CD39-like 2 |interleukin 6 signal transducer-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438431 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=955[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9861855 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001247 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001247 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438431 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.438431 |OMIM:603160 |SNP:955 MAP|20p11.2-p11.22 HG|species == rat; score == 769; expect == 0.0; MEOW:ref|NP_445950.1| (86%) |species == Mouse; gene == Entpd6; score == 464; expect == 4e-131; MEOW:MGgn0001179 (88%) |species == Human; gene == ENTPD5; score == 386; expect == 1e-107; MEOW:HUgn0000957 (53%) |species == Fruitfly; gene == NTPase; score == 235; expect == 4.4e-62; MEOW:FBgn0024947 (39%) |species == Mosquito; score == 223; expect == 1.4e-58; MEOW:AGgn0012341 (39%) |species == Worm; gene == K08H10.4; score == 223; expect == 1.4e-58; MEOW:CEgn0013593 (34%) |species == rice; score == 193; expect == 2.1e-49; MEOW:gnl|TIGR|8360.m01952 (32%) |species == Weed; gene == At5g18280; score == 181; expect == 7.8e-46; MEOW:ATgn0024363 (31%) |species == Yeast; gene == GDA1; score == 178; expect == 5.7e-45; MEOW:SGgn0000768 (33%) |species == rice; score == 174; expect == 1.2e-43; MEOW:gnl|TIGR|8355.m04635 (31%) |species == Weed; gene == At3g04080; score == 170; expect == 1.8e-42; MEOW:ATgn0014515 (31%) |species == rice; score == 155; expect == 7.2e-38; MEOW:gnl|TIGR|8358.m00225 (30%) } # EOR GENR { RETE|ID 1 HUgn0000956 CHR 1 3 DID 1 LocusLink:956 MAP 1 3p21.3 NAM 1 ectonucleoside triphosphate diphosphohydrolase 3 ORG 1 Homo sapiens SYM 1 ENTPD3 ID|HUgn0000956 DID|LocusLink:956 ORG|Homo sapiens RSQ|REFSEQ:NM_001248 RPA|REFPROT:NP_001239 DBA|XM:NM_001248 |NA:AF034840 |NA:AF039917 |NA:BC029869 |NA:none PAC|XP:NP_001239 SYM|ENTPD3 NAM|ectonucleoside triphosphate diphosphohydrolase 3 SYN|HB6 |CD39L3 |NTPDase-3 FNC|ectonucleoside triphosphate diphosphohydrolase 3 REAB|ENTPD3 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate |catabolism of extracellular nucleotides. ENTPD3 contains 4 apyrase-conserved regions |which is characteristic of NTPases. CHR|3 PRD|CD39-like 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=47042 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=956[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9861856 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001248 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001248 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=47042 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.47042 |OMIM:603161 |SNP:956 MAP|3p21.3 ENZ|apyrase activity ; GO:0004050 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 834; expect == 0.0; MEOW:ref|NP_835207.1| (81%) |species == Mouse; gene == Entpd3; score == 831; expect == 0.0; MEOW:MGgn0001180 (81%) |species == Human; gene == ENTPD2; score == 362; expect == 4e-100; MEOW:HUgn0000954 (42%) |species == Human; gene == ENTPD1; score == 359; expect == 3.1e-99; MEOW:HUgn0000953 (40%) |species == Human; gene == LOC377841; score == 359; expect == 1.8e-99; MEOW:HUgn0377841 (41%) |species == Weed; gene == At1g14240; score == 179; expect == 4.5e-45; MEOW:ATgn0002050 (30%) |species == Weed; gene == At2g02970; score == 176; expect == 2.9e-44; MEOW:ATgn0007930 (29%) |species == Weed; gene == At1g14230; score == 167; expect == 9.7e-42; MEOW:ATgn0002049 (28%) |species == Weed; gene == At1g14250; score == 162; expect == 3.9e-40; MEOW:ATgn0002051 (27%) |species == Yeast; gene == YND1; score == 147; expect == 5.3e-36; MEOW:SGgn0000807 (25%) |species == Worm; gene == R07E4.4; score == 135; expect == 6.0e-32; MEOW:CEgn0014581 (23%) |species == Worm; gene == C33H5.14; score == 134; expect == 1.1e-31; MEOW:CEgn0005919 (26%) } # EOR GENR { RETE|ID 1 HUgn0000957 CHR 1 14 DID 1 LocusLink:957 MAP 1 14q24 NAM 1 ectonucleoside triphosphate diphosphohydrolase 5 ORG 1 Homo sapiens SYM 1 ENTPD5 ID|HUgn0000957 DID|LocusLink:957 ORG|Homo sapiens RSQ|REFSEQ:NM_001249 RPA|REFPROT:NP_001240 DBA|XM:NM_001249 |NA:AF039918 |NA:AF136572 |NA:AY430094 |NA:BC020966 |NA:none PAC|XP:NP_001240 SYM|ENTPD5 NAM|ectonucleoside triphosphate diphosphohydrolase 5 SYN|PCPH |CD39L4 |NTPDase-5 FNC|ectonucleoside triphosphate diphosphohydrolase 5 REAB|ENTPD5 is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, |such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 |apyrase-conserved regions which is characteristic of NTPases. CHR|14 PRD|CD39-like 4 |Pcph proto-oncogene protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=131555 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=957[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9861857 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001249 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001249 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.131555 |OMIM:603162 |SNP:957 MAP|14q24 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 |nucleoside diphosphatase activity ; GO:0017110 HG|species == Mouse; gene == Entpd5; score == 711; expect == 0.0; MEOW:MGgn0001181 (86%) |species == rat; score == 699; expect == 0.0; MEOW:ref|XP_234411.2| (74%) |species == Human; gene == ENTPD6; score == 386; expect == 1e-107; MEOW:HUgn0000955 (53%) |species == Fruitfly; gene == NTPase; score == 260; expect == 5.3e-70; MEOW:FBgn0024947 (39%) |species == Mosquito; score == 253; expect == 6.2e-68; MEOW:AGgn0012341 (39%) |species == Worm; gene == K08H10.4; score == 229; expect == 2.0e-60; MEOW:CEgn0013593 (35%) |species == rice; score == 186; expect == 2.5e-47; MEOW:gnl|TIGR|8360.m01952 (33%) |species == Weed; gene == At5g18280; score == 178; expect == 4.5e-45; MEOW:ATgn0024363 (30%) |species == rice; score == 178; expect == 5.0e-45; MEOW:gnl|TIGR|8355.m04635 (31%) |species == Weed; gene == At3g04080; score == 175; expect == 3.8e-44; MEOW:ATgn0014515 (30%) |species == Yeast; gene == GDA1; score == 172; expect == 4.1e-43; MEOW:SGgn0000768 (32%) |species == rice; score == 163; expect == 2.2e-40; MEOW:gnl|TIGR|8358.m00227 (30%) |species == rice; score == 160; expect == 1.7e-39; MEOW:gnl|TIGR|8359.m00196 (31%) |species == rice; score == 153; expect == 2.1e-37; MEOW:gnl|TIGR|8358.m00225 (29%) |species == Weed; gene == At2g02970; score == 148; expect == 6.5e-36; MEOW:ATgn0007930 (30%) } # EOR GENR { RETE|ID 1 HUgn0000958 CHR 1 20 DID 1 LocusLink:958 MAP 1 20q12-q13.2 NAM 1 tumor necrosis factor receptor superfamily, member 5 ORG 1 Homo sapiens SYM 1 TNFRSF5 ID|HUgn0000958 DID|LocusLink:958 ORG|Homo sapiens RSQ|REFSEQ:NM_001250 |REFSEQ:NM_152854 RPA|REFPROT:NP_001241 |REFPROT:NP_690593 DBA|XM:NM_001250 |XM:NM_152854 |NA:AJ300189 |NA:BC012419 |NA:BM761221 |NA:none PAC|XP:NP_001241 |XP:NP_690593 SYM|TNFRSF5 NAM|tumor necrosis factor receptor superfamily, member 5 SYN|p50 |Bp50 |CD40 |CDW40 |MGC9013 FNC|tumor necrosis factor receptor superfamily, member 5 isoform 1 precursor |tumor necrosis factor receptor superfamily, member 5 isoform 2 precursor |development ; GO:0007275 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 |inflammatory response ; GO:0006954 |platelet activation ; GO:0030168 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 |B-cell proliferation ; GO:0042100 REAB|The protein encoded by this gene is a member of the TNF-receptor superfamily. This |receptor has been found to be essential in mediating a broad variety of immune and |inflammatory responses including T cell-dependent immunoglobulin class switching, |memory B cell development, and germinal center formation. AT-hook transcription |factor AKNA is reported to coordinately regulate the expression of this receptor |and its ligand, which may be important for homotypic cell interactions. Adaptor |protein TNFR2 interacts with this receptor and serves as a mediator of the signal |transduction. The interaction of this receptor and its ligand is found to be necessary |for amyloid-beta-induced microglial activation, and thus is thought to be an early |event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants |of this gene encoding distinct isoforms have been reported. CHR|20 PRD|CD40 antigen |CD40L receptor |CD40 type II isoform |B cell-associated molecule |B cell surface antigen CD40 |nerve growth factor receptor-related B-lymphocyte activation molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=504816 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=958[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:215268 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001250 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001250 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=504816 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.504816 |OMIM:109535 |SNP:958 |PROW:551041808 MAP|20q12-q13.2 PHP|Immunodeficiency with hyper-IgM, type 3 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Tnfrsf5; score == 377; expect == 5e-105; MEOW:MGgn0012424 (61%) |species == rat; score == 302; expect == 1.5e-82; MEOW:ref|XP_230854.2| (52%) |species == Human; gene == TNFRSF11A; score == 150; expect == 9.5e-37; MEOW:HUgn0008792 (39%) } # EOR GENR { RETE|ID 1 HUgn0000959 CHR 1 X DID 1 LocusLink:959 MAP 1 Xq26 NAM 1 tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) ORG 1 Homo sapiens SYM 1 TNFSF5 ID|HUgn0000959 DID|LocusLink:959 ORG|Homo sapiens RSQ|REFSEQ:NM_000074 RPA|REFPROT:NP_000065 DBA|XM:NM_000074 |NA:D31793 |NA:D31794 |NA:D31795 |NA:D31796 |NA:D31797 |NA:L07414 |NA:X67878 |NA:X68550 |NA:Z15017 |NA:none PAC|XP:NP_000065 SYM|TNFSF5 NAM|tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) SYN|IGM |IMD3 |TRAP |gp39 |CD154 |CD40L |HIGM1 |T-BAM |CD40LG |hCD40L FNC|CD40 antigen ligand |anti-apoptosis ; GO:0006916 |leukocyte cell adhesion ; GO:0007159 |immune response ; GO:0006955 |signal transduction ; GO:0007165 |inflammatory response ; GO:0006954 |isotype switching ; GO:0045190 |platelet activation ; GO:0030168 |B-cell proliferation ; GO:0042100 REAB|The protein encoded by this gene is expressed on the surface of T cells. It regulates |B cell function by engaging CD40 on the B cell surface. A defect in this gene results |in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM |syndrome. CHR|X PRD|T-B cell-activating molecule |TNF-related activation protein |CD40 antigen ligand (hyper-IgM syndrome) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=652 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=959[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120632 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000074 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000074 |http://www.geneclinics.org/query?mim=300386 |http://www.ncbi.nlm.nih.gov/disease/higm.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.expasy.ch/www/cd40lbase.html DBL|UNIGENE:Hs.652 |OMIM:300386 |SNP:959 |UWCM:120632.html MAP|Xq26 PHP|Immunodeficiency, X-linked, with hyper-IgM ENZ|tumor necrosis factor receptor binding ; GO:0005164 |CD40 receptor binding ; GO:0005174 CEL|soluble fraction ; GO:0005625 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Tnfsf5; score == 401; expect == 1e-112; MEOW:MGgn0012432 (77%) |species == rat; score == 397; expect == 4e-111; MEOW:ref|NP_445805.1| (77%) } # EOR GENR { RETE|ID 1 HUgn0000960 CHR 1 11 DID 1 LocusLink:960 MAP 1 11p13 NAM 1 CD44 antigen (homing function and Indian blood group system) ORG 1 Homo sapiens SYM 1 CD44 ID|HUgn0000960 DID|LocusLink:960 ORG|Homo sapiens RSQ|REFSEQ:NM_000610 RPA|REFPROT:NP_000601 DBA|XM:NM_000610 |NA:L05424 |NA:AJ251595 |NA:AY101192 |NA:AY101193 |NA:BC004372 |NA:BC052287 |NA:M24915 |NA:M25078 |NA:M59040 |NA:S66400 |NA:U40373 |NA:X56794 |NA:X62739 |NA:X66733 |NA:none PAC|XP:NP_000601 SYM|CD44 NAM|CD44 antigen (homing function and Indian blood group system) SYN|IN |MC56 |MDU2 |MDU3 |MIC4 |Pgp1 |CD44R FNC|CD44 antigen (homing function and Indian blood group system) CHR|11 PRD|CD44 antigen (homing function) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=306278 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=960[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120739 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000610 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000610 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=306278 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26221 DBL|UNIGENE:Hs.306278 |OMIM:107269 |SNP:960 |PROW:1621804819 MAP|11p13 HG|species == rat; score == 939; expect == 0.0; MEOW:ref|NP_037056.2| (66%) |species == Mouse; gene == Cd44; score == 337; expect == 8.0e-93; MEOW:MGgn0001187 (70%) } # EOR GENR { RETE|ID 1 HUgn0000961 CHR 1 3 DID 1 LocusLink:961 MAP 1 3q13.1-q13.2 NAM 1 CD47 antigen (Rh-related antigen, integrin-associated signal transducer) ORG 1 Homo sapiens SYM 1 CD47 ID|HUgn0000961 DID|LocusLink:961 ORG|Homo sapiens RSQ|REFSEQ:NM_001777 RPA|REFPROT:NP_001768 DBA|XM:NM_001777 |NA:BC010016 |NA:BC012884 |NA:BC037306 |NA:BC042889 |NA:BC045593 |NA:BC053959 |NA:BT006907 |NA:X69398 |NA:Z25521 |NA:none PAC|XP:NP_001768 SYM|CD47 NAM|CD47 antigen (Rh-related antigen, integrin-associated signal transducer) SYN|IAP |OA3 |MER6 FNC|CD47 antigen (Rh-related antigen, integrin-associated signal transducer) |integrin-mediated signaling pathway ; GO:0007229 |cell-matrix adhesion ; GO:0007160 CHR|3 PRD|antigen identified by monoclonal antibody 1D8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446414 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=961[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250714 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001777 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001777 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446414 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26222 DBL|UNIGENE:Hs.446414 |OMIM:601028 |SNP:961 |PROW:1536474721 MAP|3q13.1-q13.2 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 389; expect == 2e-108; MEOW:ref|NP_062068.1| (70%) |species == Mouse; gene == Cd47; score == 382; expect == 1e-106; MEOW:MGgn0006602 (65%) } # EOR GENR { RETE|ID 1 HUgn0000962 CHR 1 1 DID 1 LocusLink:962 MAP 1 1q21.3-q22 NAM 1 CD48 antigen (B-cell membrane protein) ORG 1 Homo sapiens SYM 1 CD48 ID|HUgn0000962 DID|LocusLink:962 ORG|Homo sapiens RSQ|REFSEQ:NM_001778 RPA|REFPROT:NP_001769 DBA|XM:NM_001778 |NA:BC016182 |NA:BC030224 |NA:M37766 |NA:M59904 |NA:X06341 |NA:none PAC|XP:NP_001769 SYM|CD48 NAM|CD48 antigen (B-cell membrane protein) SYN|BCM1 |BLAST |hCD48 |mCD48 |BLAST1 |SLAMF2 |MEM-102 FNC|CD48 antigen (B-cell membrane protein) CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=901 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=962[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119725 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001778 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001778 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=901 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26223 DBL|UNIGENE:Hs.901 |OMIM:109530 |SNP:962 |PROW:130727989 MAP|1q21.3-q22 HG|species == Mouse; gene == Cd48; score == 214; expect == 2.9e-56; MEOW:MGgn0001188 (51%) |species == rat; score == 213; expect == 5.7e-56; MEOW:ref|NP_620803.1| (50%) } # EOR GENR { RETE|ID 1 HUgn0000963 CHR 1 1 DID 1 LocusLink:963 MAP 1 1p13 NAM 1 CD53 antigen ORG 1 Homo sapiens SYM 1 CD53 ID|HUgn0000963 DID|LocusLink:963 ORG|Homo sapiens RSQ|REFSEQ:NM_000560 RPA|REFPROT:NP_000551 DBA|XM:NM_000560 |NA:AJ243474 |NA:L11670 |NA:L11671 |NA:BC035456 |NA:BC040693 |NA:M37033 |NA:M60871 |NA:none PAC|XP:NP_000551 SYM|CD53 NAM|CD53 antigen SYN|MOX44 FNC|CD53 antigen |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins. It contributes to the transduction of CD2-generated |signals in T cells and natural killer cells and has been suggested to play a role |in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency |associated with recurrent infectious diseases caused by bacteria, fungi and viruses. CHR|1 PRD|CD53 glycoprotein |cell surface antigen |CD53 tetraspan antigen |transmembrane glycoprotein |leukocyte surface antigen CD53 |antigen MOX44 identified by monoclonal antibody MRC-OX44 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443057 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=963[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127521 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000560 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000560 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443057 DBL|UNIGENE:Hs.443057 |OMIM:151525 |SNP:963 |PROW:999965746 MAP|1p13 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd53; score == 383; expect == 4e-107; MEOW:MGgn0001191 (83%) |species == rat; score == 335; expect == 8.5e-93; MEOW:ref|NP_036655.1| (81%) |species == Human; gene == TM4SF7; score == 159; expect == 1.2e-39; MEOW:HUgn0007106 (37%) |species == Human; gene == NET-5; score == 157; expect == 5.4e-39; MEOW:HUgn0010867 (40%) } # EOR GENR { RETE|ID 1 HUgn0000964 CHR 1 11 DID 1 LocusLink:964 MAP 1 11q12-qter NAM 1 CD57 antigen ORG 1 Homo sapiens SYM 1 CD57 ID|HUgn0000964 DID|LocusLink:964 ORG|Homo sapiens SYM|CD57 NAM|CD57 antigen SYN|LEU7 |NK-1 |HNK-1 CHR|11 PRD|CD57 antigen (LEU7) DBL|OMIM:151290 MAP|11q12-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119363 } # EOR GENR { RETE|ID 1 HUgn0000965 CHR 1 1 DID 1 LocusLink:965 MAP 1 1p13 NAM 1 CD58 antigen, (lymphocyte function-associated antigen 3) ORG 1 Homo sapiens SYM 1 CD58 ID|HUgn0000965 DID|LocusLink:965 ORG|Homo sapiens RSQ|REFSEQ:NM_001779 RPA|REFPROT:NP_001770 DBA|XM:NM_001779 |NA:Y14780 |NA:BC005930 |NA:D28586 |NA:X06296 |NA:Y00636 PAC|XP:NP_001770 SYM|CD58 NAM|CD58 antigen, (lymphocyte function-associated antigen 3) SYN|LFA3 FNC|CD58 antigen, (lymphocyte function-associated antigen 3) |cell adhesion ; GO:0007155 |antimicrobial humoral response (sensu Invertebrata) ; GO:0006960 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75626 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=965[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120580 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001779 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001779 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75626 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26227 DBL|UNIGENE:Hs.75626 |OMIM:153420 |SNP:965 |PROW:1044120651 MAP|1p13 PHP|immunoglobulin superfamily receptor; interacts with CD2 receptor, aids contact of helper T cells with APC ENZ|cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 } # EOR GENR { RETE|ID 1 HUgn0000966 CHR 1 11 DID 1 LocusLink:966 MAP 1 11p13 NAM 1 CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344) ORG 1 Homo sapiens SYM 1 CD59 ID|HUgn0000966 DID|LocusLink:966 ORG|Homo sapiens RSQ|REFSEQ:NM_000611 RPA|REFPROT:NP_000602 DBA|XM:NM_000611 |NA:M84349 |NA:AK128571 |NA:BC001506 |NA:BC033226 |NA:M27909 |NA:M34671 |NA:M95708 |NA:X16447 |NA:none PAC|XP:NP_000602 SYM|CD59 NAM|CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344) SYN|MIN1 |MIN2 |MIN3 |MIC11 |MSK21 |PROTECTIN FNC|CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344) |blood coagulation ; GO:0007596 |cell surface receptor linked signal transduction ; GO:0007166 |immune response ; GO:0006955 CHR|11 PRD|Antigen identified by monoclonal antibody 16.3A5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=966[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119769 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000611 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000611 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278573 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26228 DBL|UNIGENE:Hs.278573 |OMIM:107271 |SNP:966 |PROW:1672632432 |UWCM:119769.html MAP|11p13 PHP|CD59 deficiency CEL|membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 } # EOR GENR { RETE|ID 1 HUgn0000967 CHR 1 12 DID 1 LocusLink:967 MAP 1 12q12-q13 NAM 1 CD63 antigen (melanoma 1 antigen) ORG 1 Homo sapiens SYM 1 CD63 ID|HUgn0000967 DID|LocusLink:967 ORG|Homo sapiens RSQ|REFSEQ:NM_001780 RPA|REFPROT:NP_001771 DBA|XM:NM_001780 |NA:D00874 |NA:X62654 |NA:BC002349 |NA:BC013017 |NA:M58485 |NA:M59907 |NA:S93788 |NA:X07982 |NA:none PAC|XP:NP_001771 SYM|CD63 NAM|CD63 antigen (melanoma 1 antigen) SYN|MLA1 |ME491 |LAMP-3 |OMA81H FNC|CD63 antigen REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins. It may function as a blood platelet activation |marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. |Also this gene has been associated with tumor progression. The use of alternate |polyadenylation sites has been found for this gene. CHR|12 PRD|granulophysin |melanoma 1 antigen |melanoma-associated antigen MLA1 |melanoma-associated antigen ME491 |ocular melanoma-associated antigen |lysosome-associated membrane glycoprotein 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445570 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=967[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120186 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001780 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001780 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445570 DBL|UNIGENE:Hs.445570 |OMIM:155740 |SNP:967 MAP|12q12-q13 CEL|lysosomal membrane ; GO:0005765 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd63; score == 379; expect == 1e-105; MEOW:MGgn0001195 (79%) |species == rat; score == 373; expect == 5e-104; MEOW:ref|NP_058821.1| (78%) |species == Human; gene == TM4SF2; score == 141; expect == 2.9e-34; MEOW:HUgn0007102 (30%) |species == chimp; score == 141; expect == 2.8e-34; MEOW:sp|BAC81135|BAC81135 (30%) |species == Mosquito; gene == LOC22215; score == 132; expect == 1.7e-31; MEOW:AGgn0022215 (31%) } # EOR GENR { RETE|ID 1 HUgn0000968 CHR 1 17 DID 1 LocusLink:968 MAP 1 17p13 NAM 1 CD68 antigen ORG 1 Homo sapiens SYM 1 CD68 ID|HUgn0000968 DID|LocusLink:968 ORG|Homo sapiens RSQ|REFSEQ:NM_001251 RPA|REFPROT:NP_001242 DBA|XM:NM_001251 |NA:BC015557 |NA:BT009923 |NA:S57235 |NA:none PAC|XP:NP_001242 SYM|CD68 NAM|CD68 antigen SYN|SCARD1 FNC|CD68 antigen REAB|CD68 is a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes |and tissue macrophages. It is a type I integral membrane protein with a heavily |glycosylated extracellular domain. CHR|17 PRD|macrosialin |scavenger receptor class D, member 1 |Macrophage antigen CD68 (microsialin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=246381 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=968[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138475 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001251 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001251 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=246381 DBL|UNIGENE:Hs.246381 |OMIM:153634 |SNP:968 |PROW:2088387162 MAP|17p13 CEL|lysosome ; GO:0005764 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cd68; score == 312; expect == 2.5e-85; MEOW:MGgn0001197 (62%) |species == rat; score == 289; expect == 1.2e-78; MEOW:ref|XP_213372.2| (63%) } # EOR GENR { RETE|ID 1 HUgn0000969 CHR 1 12 DID 1 LocusLink:969 MAP 1 12p13-p12 NAM 1 CD69 antigen (p60, early T-cell activation antigen) ORG 1 Homo sapiens SYM 1 CD69 ID|HUgn0000969 DID|LocusLink:969 ORG|Homo sapiens RSQ|REFSEQ:NM_001781 RPA|REFPROT:NP_001772 DBA|XM:NM_001781 |NA:Z30426 |NA:BC007037 |NA:L07555 |NA:Z22576 |NA:none PAC|XP:NP_001772 SYM|CD69 NAM|CD69 antigen (p60, early T-cell activation antigen) FNC|CD69 antigen (p60, early T-cell activation antigen) |defense response ; GO:0006952 |cell surface receptor linked signal transduction ; GO:0007166 |heterophilic cell adhesion ; GO:0007157 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82401 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=969[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132925 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001781 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001781 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82401 DBL|UNIGENE:Hs.82401 |OMIM:107273 |SNP:969 |PROW:228230609 MAP|12p13-p12 ENZ|sugar binding ; GO:0005529 |transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 216; expect == 5.0e-57; MEOW:ref|XP_232418.2| (61%) } # EOR GENR { RETE|ID 1 HUgn0000970 CHR 1 19 DID 1 LocusLink:970 MAP 1 19p13 NAM 1 tumor necrosis factor (ligand) superfamily, member 7 ORG 1 Homo sapiens SYM 1 TNFSF7 ID|HUgn0000970 DID|LocusLink:970 ORG|Homo sapiens RSQ|REFSEQ:NM_001252 RPA|REFPROT:NP_001243 DBA|XM:NM_001252 |NA:BC000725 |NA:L08096 |NA:S69339 |NA:none PAC|XP:NP_001243 SYM|TNFSF7 NAM|tumor necrosis factor (ligand) superfamily, member 7 SYN|CD70 |CD27L |CD27LG FNC|tumor necrosis factor ligand superfamily, member 7 |apoptosis ; GO:0006915 |immune response ; GO:0006955 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a cytokine that belongs to the tumor necrosis |factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a |surface antigen on activated, but not on resting, T and B lymphocytes. It induces |proliferation of costimulated T cells, enhances the generation of cytolytic T cells, |and contributes to T cell activation. This cytokine is also reported to play a role |in regulating B-cell activation, cytotoxic function of natural killer cells, and |immunoglobulin sythesis. CHR|19 PRD|CD27 ligand |CD70 antigen |Ki-24 antigen |surface antigen CD70 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99899 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=970[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139157 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001252 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001252 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99899 DBL|UNIGENE:Hs.99899 |OMIM:602840 |SNP:970 MAP|19p13 ENZ|tumor necrosis factor receptor binding ; GO:0005164 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Tnfsf7; score == 195; expect == 1.5e-50; MEOW:MGgn0012433 (56%) |species == rat; score == 194; expect == 3.2e-50; MEOW:ref|XP_217320.2| (55%) } # EOR GENR { RETE|ID 1 HUgn0000971 CHR 1 9 DID 1 LocusLink:971 MAP 1 9p13.2 NAM 1 CD72 antigen ORG 1 Homo sapiens SYM 1 CD72 ID|HUgn0000971 DID|LocusLink:971 ORG|Homo sapiens RSQ|REFSEQ:NM_001782 RPA|REFPROT:NP_001773 DBA|XM:NM_001782 |NA:AF283777 |NA:BC011734 |NA:BC030227 |NA:M54992 |NA:none PAC|XP:NP_001773 SYM|CD72 NAM|CD72 antigen SYN|LYB2 FNC|CD72 antigen |cell adhesion ; GO:0007155 |heterophilic cell adhesion ; GO:0007157 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=116481 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=971[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128153 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001782 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001782 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=116481 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26235 DBL|UNIGENE:Hs.116481 |OMIM:107272 |SNP:971 MAP|9p13.2 ENZ|sugar binding ; GO:0005529 |receptor binding ; GO:0005102 |receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd72; score == 314; expect == 2.7e-86; MEOW:MGgn0001200 (53%) |species == rat; score == 241; expect == 3.5e-64; MEOW:ref|XP_233384.2| (44%) } # EOR GENR { RETE|ID 1 HUgn0000972 CHR 1 5 DID 1 LocusLink:972 MAP 1 5q32 NAM 1 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) ORG 1 Homo sapiens SYM 1 CD74 ID|HUgn0000972 DID|LocusLink:972 ORG|Homo sapiens RSQ|REFSEQ:NM_004355 RPA|REFPROT:NP_004346 DBA|XM:NM_004355 |NA:BC018726 |NA:BC024272 |NA:K01144 |NA:X00497 |NA:none PAC|XP:NP_004346 SYM|CD74 NAM|CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) SYN|DHLAG |HLADG |Ia-GAMMA FNC|invariant gamma chain |immune response ; GO:0006955 CHR|5 PRD|HLA-DR-gamma |Ia-associated invariant chain |gamma chain of class II antigens URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446471 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=972[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119846 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004355 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004355 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446471 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26236 DBL|UNIGENE:Hs.446471 |OMIM:142790 |SNP:972 |PROW:419053481 MAP|5q32 ENZ|chaperone activity ; GO:0003754 |MHC class II receptor activity ; GO:0045012 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 326; expect == 7.5e-90; MEOW:ref|NP_037201.1| (75%) |species == Mouse; gene == Ii; score == 321; expect == 1.6e-88; MEOW:MGgn0006318 (72%) } # EOR GENR { RETE|ID 1 HUgn0000973 CHR 1 19 DID 1 LocusLink:973 MAP 1 19q13.2 NAM 1 CD79A antigen (immunoglobulin-associated alpha) ORG 1 Homo sapiens SYM 1 CD79A ID|HUgn0000973 DID|LocusLink:973 ORG|Homo sapiens RSQ|REFSEQ:NM_001783 |REFSEQ:NM_021601 RPA|REFPROT:NP_001774 |REFPROT:NP_067612 DBA|XM:NM_001783 |XM:NM_021601 |NA:L32754 |NA:U05259 |NA:M74721 |NA:M80462 |NA:M86921 |NA:S46706 |NA:S75217 |NA:S79248 |NA:X13451 |NA:X83540 |NA:none PAC|XP:NP_001774 |XP:NP_067612 SYM|CD79A NAM|CD79A antigen (immunoglobulin-associated alpha) SYN|IGA |MB-1 FNC|CD79A antigen isoform 1 precursor |CD79A antigen isoform 2 precursor |defense response ; GO:0006952 |cell surface receptor linked signal transduction ; GO:0007166 REAB|The B lymphocyte antigen receptor is a multimeric complex which includes the antigen-specific |component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with |2 other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function |of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell |antigen component. Alternative splicing has been observed and two transcript variants |have been described. CHR|19 PRD|MB-1 membrane glycoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79630 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=973[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133778 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001783 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001783 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26237 DBL|UNIGENE:Hs.79630 |OMIM:112205 |SNP:973 MAP|19q13.2 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cd79a; score == 301; expect == 1.2e-82; MEOW:MGgn0001201 (68%) } # EOR GENR { RETE|ID 1 HUgn0000974 CHR 1 17 DID 1 LocusLink:974 MAP 1 17q23 NAM 1 CD79B antigen (immunoglobulin-associated beta) ORG 1 Homo sapiens SYM 1 CD79B ID|HUgn0000974 DID|LocusLink:974 ORG|Homo sapiens RSQ|REFSEQ:NM_000626 |REFSEQ:NM_021602 RPA|REFPROT:NP_000617 |REFPROT:NP_067613 DBA|XM:NM_000626 |XM:NM_021602 |NA:AF019557 |NA:L27587 |NA:U22954 |NA:X83538 |NA:BC002975 |NA:BC030210 |NA:BC032651 |NA:M80461 |NA:M89957 |NA:S52229 |NA:S79249 |NA:X83539 |NA:none PAC|XP:NP_000617 |XP:NP_067613 SYM|CD79B NAM|CD79B antigen (immunoglobulin-associated beta) SYN|B29 |IGB FNC|CD79B antigen isoform 1 precursor |CD79B antigen isoform 2 precursor |cell surface receptor linked signal transduction ; GO:0007166 |immune response ; GO:0006955 REAB|The B lymphocyte antigen receptor is a multimeric complex which includes the antigen-specific |component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with |2 other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function |of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell |antigen component. Alternative splicing results in two known transcript variants. CHR|17 PRD|B-cell-specific glycoprotein B29 |immunoglobulin-associated protein (B29) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89575 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=974[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133786 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000626 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000626 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89575 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26238 DBL|UNIGENE:Hs.89575 |OMIM:147245 |SNP:974 MAP|17q23 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 283; expect == 4.1e-77; MEOW:ref|NP_598217.1| (69%) |species == Mouse; gene == Cd79b; score == 278; expect == 1.5e-75; MEOW:MGgn0006154 (68%) } # EOR GENR { RETE|ID 1 HUgn0000975 CHR 1 11 DID 1 LocusLink:975 MAP 1 11p15.5 NAM 1 CD81 antigen (target of antiproliferative antibody 1) ORG 1 Homo sapiens SYM 1 CD81 ID|HUgn0000975 DID|LocusLink:975 ORG|Homo sapiens RSQ|REFSEQ:NM_004356 RPA|REFPROT:NP_004347 DBA|XM:NM_004356 |NA:BC002978 |NA:M33680 |NA:none PAC|XP:NP_004347 SYM|CD81 NAM|CD81 antigen (target of antiproliferative antibody 1) SYN|S5.7 |TAPA1 FNC|CD81 antigen |defense response ; GO:0006952 |cell proliferation ; GO:0008283 |protein complex assembly ; GO:0006461 REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins. This protein appears to promote muscle |cell fusion and support myotube maintenance. Also it may be involved in signal transduction. |This gene is localized in the tumor-suppressor gene region and thus it is a candidate |gene for malignancies. CHR|11 PRD|26 kDa cell surface protein TAPA-1 |target of antiproliferative antibody 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54457 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=975[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135038 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004356 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004356 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=54457 DBL|UNIGENE:Hs.54457 |OMIM:186845 |SNP:975 |PROW:1198972117 MAP|11p15.5 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cd81; score == 435; expect == 9e-123; MEOW:MGgn0001203 (91%) |species == rat; score == 425; expect == 9e-120; MEOW:ref|XP_346576.1| (93%) |species == chimp; score == 398; expect == 2e-111; MEOW:sp|P18582|CD81_HUMAN (100%) |species == Zfish; gene == cd81; score == 306; expect == 6.2e-84; MEOW:ZFgn0000933 (64%) |species == Human; gene == CD9; score == 192; expect == 1.7e-49; MEOW:HUgn0000928 (43%) |species == rat; score == 191; expect == 2.3e-49; MEOW:ref|XP_342761.1| (42%) |species == Mouse; gene == Cd9; score == 190; expect == 4.3e-49; MEOW:MGgn0001210 (42%) |species == Mouse; gene == 6330415F13Rik; score == 162; expect == 9.7e-41; MEOW:MGgn0026413 (40%) |species == rat; score == 162; expect == 1.9e-40; MEOW:ref|NP_072111.1| (40%) |species == Human; gene == TSPAN-2; score == 159; expect == 1.2e-39; MEOW:HUgn0010100 (40%) } # EOR GENR { RETE|ID 1 HUgn0000976 CHR 1 19 DID 1 LocusLink:976 MAP 1 19p13 NAM 1 CD97 antigen ORG 1 Homo sapiens SYM 1 CD97 ID|HUgn0000976 DID|LocusLink:976 ORG|Homo sapiens RSQ|REFSEQ:NM_001784 |REFSEQ:NM_078481 RPA|REFPROT:NP_001775 |REFPROT:NP_510966 DBA|XM:NM_001784 |XM:NM_078481 |NA:X94630 |NA:AK097264 |NA:BC026690 |NA:U76764 |NA:X84700 PAC|XP:NP_001775 |XP:NP_510966 SYM|CD97 NAM|CD97 antigen SYN|TM7LN1 FNC|CD97 antigen isoform 1 precursor |CD97 antigen isoform 2 precursor |G-protein coupled receptor protein signaling pathway ; GO:0007186 |cell surface receptor linked signal transduction ; GO:0007166 |cell adhesion ; GO:0007155 |immune response ; GO:0006955 |cell motility ; GO:0006928 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|This gene is a founding member of the EGF-TM7 family of class II seven-span transmembrane |(7-TM) molecules, likely encoded by a gene cluster on the short arm of chromosome |19. The encoded product is a glycoprotein that is present on the surface of most |activated leukocytes and spans the membrane seven times, which is a defining feature |of G protein-coupled receptors. The protein has an extended extracellular region |with several N-terminal epidermal growth factor (EGF)-like domains, which mediate |binding to its cellular ligand, decay accelerating factor (DAF, CD55), a regulatory |protein of the complement cascade. The presence of structural features characteristic |of extracellular matrix proteins and transmembrane proteins suggests that this protein |is a receptor involved in both cell adhesion and signaling processes early after |leukocyte activation. Alternative splicing has been observed for this gene and two |variants have been described. CHR|19 PRD|leukocyte antigen CD97 |seven-span transmembrane protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=976[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696371 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_078481 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_078481 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3107 DBL|UNIGENE:Hs.3107 |OMIM:601211 |SNP:976 MAP|19p13 ENZ|G-protein coupled receptor activity ; GO:0004930 |transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cd97; score == 791; expect == 0.0; MEOW:MGgn0001211 (53%) |species == Human; gene == EMR2; score == 758; expect == 0.0; MEOW:HUgn0030817 (50%) |species == rat; score == 723; expect == 0.0; MEOW:ref|XP_341663.1| (58%) |species == Worm; gene == lat-1; score == 195; expect == 1.3e-49; MEOW:CEgn0031046 (33%) |species == Worm; gene == lat-2; score == 193; expect == 1.8e-49; MEOW:CEgn0003348 (32%) } # EOR GENR { RETE|ID 1 HUgn0000977 CHR 1 11 DID 1 LocusLink:977 MAP 1 11p15.5 NAM 1 CD151 antigen ORG 1 Homo sapiens SYM 1 CD151 ID|HUgn0000977 DID|LocusLink:977 ORG|Homo sapiens RSQ|REFSEQ:NM_004357 |REFSEQ:NM_139030 RPA|REFPROT:NP_004348 |REFPROT:NP_620599 DBA|XM:NM_004357 |XM:NM_139030 |NA:AF315942 |NA:AK130369 |NA:AL161965 |NA:BC001374 |NA:BC013302 |NA:D29963 |NA:U14650 |NA:none PAC|XP:NP_004348 |XP:NP_620599 SYM|CD151 NAM|CD151 antigen SYN|GP27 |SFA1 |PETA-3 FNC|CD151 antigen |cell adhesion ; GO:0007155 REAB|The protein encoded by this gene is a member of the transmembrane 4 superfamily, |also known as the tetraspanin family. Most of these members are cell-surface proteins |that are characterized by the presence of four hydrophobic domains. The proteins |mediate signal transduction events that play a role in the regulation of cell development, |activation, growth and motility. This encoded protein is a cell surface glycoprotein |that is known to complex with integrins and other transmembrane 4 superfamily proteins. |It is involved in cellular processes including cell adhesion and may regulate integrin |trafficking and/or function. This protein enhances cell motility, invasion and metastasis |of cancer cells. Two alternatively spliced transcript variants have been described |for this gene. CHR|11 PRD|membrane glycoprotein SFA-1 |hemidesmosomal tetraspanin CD151 |platelet surface glycoprotein gp27 |platelet-endothelial cell tetraspan antigen 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=512857 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=977[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045060 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004357 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004357 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=512857 DBL|UNIGENE:Hs.512857 |OMIM:602243 |SNP:977 |PROW:398879899 MAP|11p15.5 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cd151; score == 414; expect == 3e-116; MEOW:MGgn0001158 (93%) |species == rat; score == 412; expect == 7e-116; MEOW:ref|XP_346572.1| (92%) |species == rat; score == 412; expect == 7e-116; MEOW:ref|XP_347359.1| (92%) |species == Human; gene == LOC376102; score == 254; expect == 7.7e-68; MEOW:HUgn0376102 (47%) |species == Mosquito; score == 153; expect == 6.7e-38; MEOW:AGgn0000887 (44%) |species == chimp; score == 133; expect == 7.6e-32; MEOW:sp|BAC81135|BAC81135 (30%) } # EOR GENR { RETE|ID 1 HUgn0000978 CHR 1 1 DID 1 LocusLink:978 MAP 1 1p36.2-p35 NAM 1 cytidine deaminase ORG 1 Homo sapiens SYM 1 CDA ID|HUgn0000978 DID|LocusLink:978 ORG|Homo sapiens RSQ|REFSEQ:NM_001785 RPA|REFPROT:NP_001776 DBA|XM:NM_001785 |NA:AF061655 |NA:AF061656 |NA:AF061657 |NA:AF061658 |NA:BC054036 |NA:L27943 |NA:S52873 |NA:none PAC|XP:NP_001776 SYM|CDA NAM|cytidine deaminase SYN|CDD FNC|cytidine deaminase |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |cytidine metabolism ; GO:0046087 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72924 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=978[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137169 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001785 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001785 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=72924 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.72924 |OMIM:123920 |SNP:978 ENZ|EC:3.5.4.5 |cytidine deaminase activity ; GO:0004126 |zinc ion binding ; GO:0008270 |hydrolase activity ; GO:0016787 MAP|1p36.2-p35 HG|species == rat; score == 260; expect == 2.7e-70; MEOW:ref|XP_342956.1| (82%) |species == Mouse; gene == Cda; score == 258; expect == 4.2e-70; MEOW:MGgn0019294 (81%) } # EOR GENR { RETE|ID 1 HUgn0000980 CHR 1 20 DID 1 LocusLink:980 MAP 1 20q11.2-q11.2 NAM 1 congenital dyserythropoietic anemia, type II ORG 1 Homo sapiens SYM 1 CDAN2 ID|HUgn0000980 DID|LocusLink:980 ORG|Homo sapiens SYM|CDAN2 NAM|congenital dyserythropoietic anemia, type II SYN|CDAII |CDA-II |HEMPAS CHR|20 DBL|OMIM:224100 MAP|20q11.2-q11.2 PHP|Congenital dyserythropoietic anemia II URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9823270 } # EOR GENR { RETE|ID 1 HUgn0000981 CHR 1 15 DID 1 LocusLink:981 MAP 1 15q21-q25 NAM 1 congenital dyserythropoietic anemia, type III ORG 1 Homo sapiens SYM 1 CDAN3 ID|HUgn0000981 DID|LocusLink:981 ORG|Homo sapiens SYM|CDAN3 NAM|congenital dyserythropoietic anemia, type III SYN|CDA3 |CDAIII CHR|15 DBL|OMIM:105600 MAP|15q21-q25 PHP|Dyserythropoietic anemia, congenital, type III URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:386192 } # EOR GENR { RETE|ID 1 HUgn0000982 CHR 1 10 DID 1 LocusLink:982 MAP 1 10q23-q24 NAM 1 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) ORG 1 Homo sapiens SYM 1 CDB2 ID|HUgn0000982 DID|LocusLink:982 ORG|Homo sapiens SYM|CDB2 NAM|corneal dystrophy of Bowman's layer type II (Thiel-Behnke) SYN|CDTB |CDB II CHR|10 DBL|OMIM:602082 MAP|10q23-q24 PHP|Corneal dystrophy, Thiel-Behnke type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6919860 } # EOR GENR { RETE|ID 1 HUgn0000983 CHR 1 10 DID 1 LocusLink:983 MAP 1 10q21.1 NAM 1 cell division cycle 2, G1 to S and G2 to M ORG 1 Homo sapiens SYM 1 CDC2 ID|HUgn0000983 DID|LocusLink:983 ORG|Homo sapiens RSQ|REFSEQ:NM_001786 |REFSEQ:NM_033379 RPA|REFPROT:NP_001777 |REFPROT:NP_203698 DBA|XM:NM_001786 |XM:NM_033379 |NA:BC014563 |NA:D88357 |NA:X05360 |NA:Y00272 |NA:none PAC|XP:NP_001777 |XP:NP_203698 SYM|CDC2 NAM|cell division cycle 2, G1 to S and G2 to M SYN|CDK1 FNC|cell division cycle 2 protein isoform 1 |cell division cycle 2 protein isoform 2 |start control point of mitotic cell cycle ; GO:0007089 |mitosis ; GO:0007067 |protein amino acid phosphorylation ; GO:0006468 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene is a member of the Ser/Thr protein kinase family. |This protein is a catalytic subunit of the highly conserved protein kinase complex |known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase |transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this |protein and function as regulatory subunits. The kinase activity of this protein |is controlled by cyclin accumulation and destruction through the cell cycle. The |phosphorylation and dephosphorylation of this protein also play important regulatory |roles in cell cycle control. CHR|10 PRD|p34 protein kinase |cyclin-dependent kinase 1 |cell cycle controller CDC2 |cell division control protein 2 homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334562 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=983[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119052 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001786 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001786 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA99 DBL|UNIGENE:Hs.334562 |OMIM:116940 |SNP:983 ENZ|EC:2.7.1.- |cyclin-dependent protein kinase activity ; GO:0004693 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|10q21.1 CEL|nucleus ; GO:0005634 HG|species == rat; score == 589; expect == 7e-169; MEOW:ref|NP_062169.1| (97%) |species == Mouse; gene == Cdc2a; score == 585; expect == 1e-167; MEOW:MGgn0001218 (96%) |species == Fruitfly; gene == cdc2; score == 450; expect == 3e-127; MEOW:FBgn0004106 (73%) |species == Mosquito; gene == LOC18666; score == 437; expect == 2e-123; MEOW:AGgn0018666 (71%) |species == Weed; gene == At3g48750; score == 406; expect == 8e-114; MEOW:ATgn0014902 (67%) |species == Worm; gene == cdk-1; score == 402; expect == 1e-112; MEOW:CEgn0027648 (64%) |species == Human; gene == CDK3; score == 399; expect == 1e-111; MEOW:HUgn0001018 (67%) |species == rice; score == 399; expect == 1e-111; MEOW:gnl|TIGR|8351.m00207 (65%) |species == Human; gene == CDK2; score == 397; expect == 5e-111; MEOW:HUgn0001017 (66%) |species == rice; score == 397; expect == 1e-110; MEOW:gnl|TIGR|8360.m00166 (66%) |species == rice; score == 395; expect == 1e-110; MEOW:gnl|TIGR|8360.m00082 (66%) |species == Yeast; gene == CDC28; score == 372; expect == 2e-103; MEOW:SGgn0000364 (59%) |species == Weed; gene == At1g20930; score == 346; expect == 1.0e-95; MEOW:ATgn0003708 (57%) |species == Weed; gene == At1g76540; score == 339; expect == 1.6e-93; MEOW:ATgn0002764 (55%) |species == Weed; gene == At2g38620; score == 331; expect == 2.6e-91; MEOW:ATgn0009362 (53%) |species == Human; gene == PCTK2; score == 330; expect == 1.2e-90; MEOW:HUgn0005128 (54%) |species == Human; gene == CDK5; score == 326; expect == 8.0e-90; MEOW:HUgn0001020 (57%) |species == Zfish; gene == cdk5; score == 323; expect == 4.9e-90; MEOW:ZFgn0002016 (56%) |species == Yeast; gene == PHO85; score == 302; expect == 2.2e-82; MEOW:SGgn0005952 (52%) |species == chimp; score == 174; expect == 7.8e-46; MEOW:sp|Q9N272|MK13_PANTR (35%) |species == chimp; score == 164; expect == 8.1e-43; MEOW:sp|Q95NE7|MK14_PANTR (35%) } # EOR GENR { RETE|ID 1 HUgn0000984 CHR 1 1 DID 1 LocusLink:984 MAP 1 1p36 NAM 1 cell division cycle 2-like 1 (PITSLRE proteins) ORG 1 Homo sapiens SYM 1 CDC2L1 ID|HUgn0000984 DID|LocusLink:984 ORG|Homo sapiens RSQ|REFSEQ:NM_001787 |REFSEQ:NM_033486 |REFSEQ:NM_033487 |REFSEQ:NM_033488 |REFSEQ:NM_033489 |REFSEQ:NM_033490 |REFSEQ:NM_033492 |REFSEQ:NM_033493 RPA|REFPROT:NP_001778 |REFPROT:NP_277021 |REFPROT:NP_277022 |REFPROT:NP_277023 |REFPROT:NP_277024 |REFPROT:NP_277025 |REFPROT:NP_277027 |REFPROT:NP_277028 DBA|NA:AF080683 |NA:M88563 |NA:AF067512 |NA:AF067513 |NA:AF067514 |NA:AF067515 |NA:AF067516 |NA:AF067517 |NA:AF174497 |NA:AK000081 |NA:BC014464 |NA:U04816 |NA:U04817 |NA:U04818 |NA:U04824 SYM|CDC2L1 NAM|cell division cycle 2-like 1 (PITSLRE proteins) SYN|p58 |PK58 |CLK-1 |p58CLK-1 |p58CDC2L1 FNC|cell division cycle 2-like 1 (PITSLRE proteins) isoform 1 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 2 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 3 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 4 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 5 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 6 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 8 |cell division cycle 2-like 1 (PITSLRE proteins) isoform 9 |protein amino acid phosphorylation ; GO:0006468 |apoptosis ; GO:0006915 |cell proliferation ; GO:0008283 |oncogenesis ; GO:0007048 |regulation of cell cycle ; GO:0000074 REAB|This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family |members are known to be essential for eukaryotic cell cycle control. This gene is |in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. |The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, |consist of two identical, tandemly linked genomic regions which are thought to be |a part of the larger region that has been duplicated. This gene and CDC2L2 were |shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. |The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated |to play roles in cell apoptosis. A large number of the alternatively spliced variants |of this gene has been reported. CHR|1 PRD|PITSLRE B |p58/GTA protein kinase |PITSLRE protein kinase alpha |cell division cycle 2-like 1 |CDC-related protein kinase p58 |galactosyltransferase associated protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=192316 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=402748 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=984[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127827 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033489 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033489 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=192316 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=402748 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.192316 |UNIGENE:Hs.402748 |OMIM:176873 |SNP:984 MAP|1p36 ENZ|tumor suppressor ; GO:0008181 |protein kinase activity ; GO:0004672 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cdc2l2; score == 988; expect == 0.0; MEOW:MGgn0001221 (90%) |species == Human; gene == CDC2L2; score == 830; expect == 0.0; MEOW:HUgn0000985 (98%) |species == rat; score == 802; expect == 0.0; MEOW:ref|XP_235722.2| (95%) |species == Mosquito; gene == LOC3083; score == 565; expect == 3e-161; MEOW:AGgn0003083 (72%) |species == Fruitfly; gene == Pitslre; score == 530; expect == 6e-151; MEOW:FBgn0016696 (66%) |species == Weed; gene == At1g67580; score == 456; expect == 2e-128; MEOW:ATgn0006313 (53%) |species == rice; score == 448; expect == 7e-126; MEOW:gnl|TIGR|8351.m03668 (50%) |species == rice; score == 448; expect == 7e-126; MEOW:gnl|TIGR|8352.m03766 (47%) |species == Worm; gene == B0495.2; score == 445; expect == 4e-125; MEOW:CEgn0003560 (58%) |species == Weed; gene == At5g63370; score == 390; expect == 2e-108; MEOW:ATgn0023248 (55%) |species == Worm; gene == ZC504.3; score == 361; expect == 1e-99; MEOW:CEgn0020710 (43%) |species == Yeast; gene == CDC28; score == 258; expect == 2.6e-69; MEOW:SGgn0000364 (47%) |species == Zfish; gene == cdk5; score == 241; expect == 7.7e-65; MEOW:ZFgn0002016 (42%) |species == Yeast; gene == CTK1; score == 236; expect == 1.1e-62; MEOW:SGgn0001622 (41%) |species == Yeast; gene == SGV1; score == 233; expect == 2.6e-61; MEOW:SGgn0006365 (36%) |species == Yeast; gene == KIN28; score == 229; expect == 1.1e-60; MEOW:SGgn0002266 (40%) |species == Yeast; gene == PHO85; score == 219; expect == 1.0e-57; MEOW:SGgn0005952 (38%) |species == chimp; score == 162; expect == 1.6e-41; MEOW:sp|Q9N272|MK13_PANTR (33%) |species == chimp; score == 155; expect == 1.5e-39; MEOW:sp|Q95NE7|MK14_PANTR (33%) } # EOR GENR { RETE|ID 1 HUgn0000985 CHR 1 1 DID 1 LocusLink:985 MAP 1 1p36.3 NAM 1 cell division cycle 2-like 2 ORG 1 Homo sapiens SYM 1 CDC2L2 ID|HUgn0000985 DID|LocusLink:985 ORG|Homo sapiens RSQ|REFSEQ:NM_024011 |REFSEQ:NM_033527 |REFSEQ:NM_033528 |REFSEQ:NM_033529 |REFSEQ:NM_033531 |REFSEQ:NM_033532 |REFSEQ:NM_033534 |REFSEQ:NM_033536 |REFSEQ:NM_033537 RPA|REFPROT:NP_076916 |REFPROT:NP_277069 |REFPROT:NP_277070 |REFPROT:NP_277071 |REFPROT:NP_277073 |REFPROT:NP_277074 |REFPROT:NP_277076 |REFPROT:NP_284922 |REFPROT:NP_284923 DBA|XM:NM_024011 |XM:NM_033527 |XM:NM_033528 |XM:NM_033529 |XM:NM_033531 |XM:NM_033532 |XM:NM_033534 |XM:NM_033536 |XM:NM_033537 |NA:AF080694 |NA:AF080695 |NA:AF080697 |NA:AF092426 |NA:AF067518 |NA:AF067519 |NA:AF067520 |NA:AF067521 |NA:AF067522 |NA:AF067523 |NA:AF067524 |NA:AF067526 |NA:AF067527 |NA:AF067528 |NA:AF067529 |NA:BC028187 |NA:BC033069 |NA:U04819 |NA:U07704 |NA:U07705 PAC|XP:NP_076916 |XP:NP_277069 |XP:NP_277070 |XP:NP_277071 |XP:NP_277073 |XP:NP_277074 |XP:NP_277076 |XP:NP_284922 |XP:NP_284923 SYM|CDC2L2 NAM|cell division cycle 2-like 2 SYN|CDC2L3 |p58GTA |PITSLRE FNC|cell division cycle 2-like 2 isoform 1 |cell division cycle 2-like 2 isoform 2 |cell division cycle 2-like 2 isoform 3 |cell division cycle 2-like 2 isoform 4 |cell division cycle 2-like 2 isoform 5 |cell division cycle 2-like 2 isoform 7 |cell division cycle 2-like 2 isoform 9 REAB|This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family |members are known to be essential for eukaryotic cell cycle control. This gene is |in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. |The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, |consist of two identical, tandemly linked genomic regions, which are thought to |be a part of the larger region that has been duplicated. This gene and CDC2L1 were |shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. |The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated |to play roles in cell apoptosis. A large number of the alternatively spliced variants |of this gene have been reported. CHR|1 PRD|PITSLRE A |p58GTA protein kinase |PITSLRE protein kinase beta |cell division cycle 2-like 3 |galactosyltransferase associated protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=192316 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=402748 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127829 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033536 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033536 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=192316 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=402748 DBL|UNIGENE:Hs.192316 |UNIGENE:Hs.402748 |OMIM:116951 |SNP:985 MAP|1p36.3 HG|species == Human; gene == CDC2L1; score == 830; expect == 0.0; MEOW:HUgn0000984 (98%) |species == Mouse; gene == Cdc2l2; score == 816; expect == 0.0; MEOW:MGgn0001221 (96%) |species == rat; score == 792; expect == 0.0; MEOW:ref|XP_235722.2| (94%) |species == Mosquito; gene == LOC3083; score == 557; expect == 4e-159; MEOW:AGgn0003083 (71%) |species == Fruitfly; gene == Pitslre; score == 526; expect == 1e-149; MEOW:FBgn0016696 (66%) |species == Weed; gene == At1g67580; score == 449; expect == 3e-126; MEOW:ATgn0006313 (54%) |species == Worm; gene == B0495.2; score == 442; expect == 3e-124; MEOW:CEgn0003560 (58%) |species == rice; score == 440; expect == 1e-123; MEOW:gnl|TIGR|8351.m03668 (49%) |species == rice; score == 439; expect == 3e-123; MEOW:gnl|TIGR|8352.m03766 (44%) |species == Weed; gene == At5g63370; score == 390; expect == 2e-108; MEOW:ATgn0023248 (57%) |species == Worm; gene == ZC504.3; score == 359; expect == 4.8e-99; MEOW:CEgn0020710 (43%) |species == Yeast; gene == CDC28; score == 256; expect == 7.3e-69; MEOW:SGgn0000364 (46%) |species == Zfish; gene == cdk5; score == 241; expect == 7.5e-65; MEOW:ZFgn0002016 (42%) |species == Yeast; gene == CTK1; score == 235; expect == 2.3e-62; MEOW:SGgn0001622 (41%) |species == Yeast; gene == KIN28; score == 231; expect == 4.3e-61; MEOW:SGgn0002266 (40%) |species == Yeast; gene == SGV1; score == 231; expect == 2.5e-61; MEOW:SGgn0006365 (35%) |species == Yeast; gene == PHO85; score == 217; expect == 4.9e-57; MEOW:SGgn0005952 (38%) |species == chimp; score == 161; expect == 3.4e-41; MEOW:sp|Q9N272|MK13_PANTR (33%) |species == chimp; score == 157; expect == 2.9e-40; MEOW:sp|Q95NE7|MK14_PANTR (33%) } # EOR GENR { RETE|ID 1 HUgn0000987 CHR 1 4 DID 1 LocusLink:987 MAP 1 4q31.23 NAM 1 LPS-responsive vesicle trafficking, beach and anchor containing ORG 1 Homo sapiens SYM 1 LRBA ID|HUgn0000987 DID|LocusLink:987 ORG|Homo sapiens RSQ|REFSEQ:NM_006726 RPA|REFPROT:NP_006717 DBA|XM:NM_006726 |NA:AF216648 |NA:AF217149 |NA:AF467287 |NA:AK026483 |NA:BC012535 |NA:M83822 |NA:none PAC|XP:NP_006717 SYM|LRBA NAM|LPS-responsive vesicle trafficking, beach and anchor containing SYN|BGL |LBA |CDC4L |LAB300 FNC|LPS-responsive vesicle trafficking, beach and anchor containing REAB|Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic |immunodeficiency involving defects in polarized trafficking of vesicles in a number |of immune system cell types. In mouse, this syndrome is reproduced in strains with |a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige |and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 |and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM] CHR|4 PRD|cell division cycle 4-like |vesicle trafficking, beach and anchor containing URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=209846 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=987[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131404 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006726 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006726 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=209846 DBL|UNIGENE:Hs.209846 |OMIM:606453 |SNP:987 MAP|4q31.23 HG|species == Mouse; gene == Lrba; score == 4832; expect == 0.0; MEOW:MGgn0038964 (89%) |species == Human; gene == NBEA; score == 3490; expect == 0.0; MEOW:HUgn0026960 (62%) |species == rat; score == 2400; expect == 0.0; MEOW:ref|XP_342272.1| (75%) |species == Fruitfly; gene == rg; score == 1294; expect == 0.0; MEOW:FBgn0003244 (57%) |species == Mosquito; gene == LOC20415; score == 1287; expect == 0.0; MEOW:AGgn0020415 (58%) |species == rice; score == 501; expect == 5e-141; MEOW:gnl|TIGR|8351.m00580 (33%) |species == Weed; gene == At2g45540; score == 459; expect == 1e-128; MEOW:ATgn0009998 (33%) |species == Weed; gene == At1g58230; score == 455; expect == 1e-127; MEOW:ATgn0003591 (32%) |species == rice; score == 455; expect == 4e-127; MEOW:gnl|TIGR|8352.m04347 (34%) |species == rice; score == 432; expect == 2e-120; MEOW:gnl|TIGR|8354.m04352 (31%) |species == Yeast; gene == BPH1; score == 314; expect == 1.2e-85; MEOW:SGgn0000628 (44%) } # EOR GENR { RETE|ID 1 HUgn0000988 CHR 1 6 DID 1 LocusLink:988 MAP 1 6p21 NAM 1 CDC5 cell division cycle 5-like (S. pombe) ORG 1 Homo sapiens SYM 1 CDC5L ID|HUgn0000988 DID|LocusLink:988 ORG|Homo sapiens RSQ|REFSEQ:NM_001253 RPA|REFPROT:NP_001244 DBA|XM:NM_001253 |NA:AB007892 |NA:AK128737 |NA:BC001568 |NA:BG187521 |NA:BG497404 |NA:D85423 |NA:U86753 PAC|XP:NP_001244 SYM|CDC5L NAM|CDC5 cell division cycle 5-like (S. pombe) SYN|hCDC5 |PCDC5RP |KIAA0432 FNC|CDC5-like |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene shares a significant similarity with Schizosaccharomyces |pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. |This protein has been demonstrated to act as a positive regulator of cell cycle |G2/M progression. It was also found to be an essential component of a non-snRNA |spliceosome, which contains at least five additional protein factors and is required |for the second catalytic step of pre-mRNA splicing. CHR|6 PRD|Cdc5-related protein |Cell division cycle 5, S. pombe, homolog-like |CDC5 (cell division cycle 5, S. pombe, homolog)-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443753 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=988[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874493 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001253 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001253 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443753 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0432 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26270 DBL|UNIGENE:Hs.443753 |OMIM:602868 |SNP:988 MAP|6p21 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdc5l; score == 1457; expect == 0.0; MEOW:MGgn0016432 (98%) |species == rat; score == 1456; expect == 0.0; MEOW:ref|NP_445979.1| (97%) |species == Mosquito; gene == LOC11065; score == 900; expect == 0.0; MEOW:AGgn0011065 (64%) |species == Weed; gene == At1g09770; score == 604; expect == 5e-173; MEOW:ATgn0003918 (46%) |species == rice; score == 597; expect == 2e-170; MEOW:gnl|TIGR|8352.m02568 (46%) |species == Yeast; gene == CEF1; score == 242; expect == 4.9e-64; MEOW:SGgn0004826 (50%) } # EOR GENR { RETE|ID 1 HUgn0000989 CHR 1 7 DID 1 LocusLink:989 MAP 1 7p14.3-p14.1 NAM 1 CDC10 cell division cycle 10 homolog (S. cerevisiae) ORG 1 Homo sapiens SYM 1 CDC10 ID|HUgn0000989 DID|LocusLink:989 ORG|Homo sapiens RSQ|REFSEQ:NM_001788 RPA|REFPROT:NP_001779 DBA|XM:NM_001788 |XM:NM_001788 |NA:AL050392 |NA:BC022442 |NA:BC025987 |NA:BX571755 |NA:S72008 |NA:none PAC|XP:NP_001779 |XP:NP_001779 SYM|CDC10 NAM|CDC10 cell division cycle 10 homolog (S. cerevisiae) SYN|SEPT7 FNC|cell division cycle 10 |cytokinesis ; GO:0016288 |cell cycle ; GO:0007049 |cytokinesis ; GO:0000910 REAB|This gene encodes a protein that is highly homologous to the CDC10 protein of Saccharomyces |cerevisiae. The protein also shares a similarity with Diff 6 of Drosophila and with |H5 of mouse. Each of these sequence homologues, including the yeast CDC10, contains |a GTP-binding motif. The gene is ubiquitously expressed in normal tissues. The yeast |CDC10 protein is a structural component of the 10 nm filament which lies inside |the cytoplasmic membrane and is essential for cytokinesis. Although the exact function |of this gene has not yet been determined, its high homology to yeast CDC10 and the |high conservative nature of eucaryotic cell cycle machinery suggest a similar role |to that of its yeast counterpart. CHR|7 PRD|CDC10 protein homolog |cell division cycle 10 (homolog to CDC10 of S.cerevisiae) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=396503 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=989[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:378627 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001788 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001788 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=396503 DBL|UNIGENE:Hs.396503 |OMIM:603151 |SNP:989 MAP|7p14.3-p14.1 ENZ|GTP binding ; GO:0005525 |structural molecule activity ; GO:0005198 CEL|actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Sept7; score == 781; expect == 0.0; MEOW:MGgn0001213 (99%) |species == rat; score == 776; expect == 0.0; MEOW:ref|NP_072138.1| (98%) |species == rat; score == 664; expect == 0.0; MEOW:ref|XP_212703.2| (82%) |species == Human; gene == LOC375565; score == 543; expect == 5e-155; MEOW:HUgn0375565 (83%) |species == Human; gene == LOC378067; score == 543; expect == 5e-155; MEOW:HUgn0378067 (83%) |species == Mosquito; gene == LOC10880; score == 524; expect == 2e-149; MEOW:AGgn0010880 (67%) |species == Fruitfly; gene == pnut; score == 497; expect == 2e-141; MEOW:FBgn0013726 (65%) |species == Worm; gene == unc-59; score == 342; expect == 2.6e-94; MEOW:CEgn0002944 (43%) |species == Yeast; gene == CDC3; score == 327; expect == 7.6e-90; MEOW:SGgn0004306 (42%) } # EOR GENR { RETE|ID 1 HUgn0000990 CHR 1 17 DID 1 LocusLink:990 MAP 1 17q21.3 NAM 1 CDC6 cell division cycle 6 homolog (S. cerevisiae) ORG 1 Homo sapiens SYM 1 CDC6 ID|HUgn0000990 DID|LocusLink:990 ORG|Homo sapiens RSQ|REFSEQ:NM_001254 RPA|REFPROT:NP_001245 DBA|XM:NM_001254 |NA:AB010492 |NA:AJ009560 |NA:AF022109 |NA:BC025232 |NA:U77949 PAC|XP:NP_001245 SYM|CDC6 NAM|CDC6 cell division cycle 6 homolog (S. cerevisiae) SYN|CDC18L |HsCDC6 |HsCDC18 FNC|CDC6 homolog REAB|The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, |a protein essential for the initiation of DNA replication. This protein functions |as a regulator at the early steps of DNA replication. It localizes in cell nucleus |during cell cyle G1, but translocates to the cytoplasm at the start of S phase. |The subcellular translocation of this protein during cell cyle is regulated through |its phosphorylation by Cdks. Transcription of this protein was reported to be regulated |in response to mitogenic signals through transcriptional control mechanism involving |E2F proteins. CHR|17 PRD|CDC6-related protein |CDC18 (cell division cycle 18, S.pombe, homolog)-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405958 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=990[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835142 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001254 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001254 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=405958 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.405958 |OMIM:602627 |SNP:990 MAP|17q21.3 HG|species == rat; score == 880; expect == 0.0; MEOW:ref|XP_340897.1| (80%) |species == Mouse; gene == Cdc6; score == 868; expect == 0.0; MEOW:MGgn0001229 (79%) |species == Fruitfly; gene == CG5971; score == 308; expect == 6.3e-84; MEOW:FBgn0035918 (42%) |species == Mosquito; score == 267; expect == 7.5e-72; MEOW:AGgn0015641 (41%) |species == Weed; gene == At1g07270; score == 188; expect == 5.3e-48; MEOW:ATgn0001276 (31%) |species == rice; score == 172; expect == 4.8e-43; MEOW:gnl|TIGR|8350.m05982 (29%) |species == Human; gene == ORC1L; score == 166; expect == 4.2e-41; MEOW:HUgn0004998 (27%) |species == rice; score == 161; expect == 3.0e-39; MEOW:gnl|TIGR|8354.m00784 (32%) |species == Worm; gene == Y39A1A.12; score == 139; expect == 2.2e-33; MEOW:CEgn0018361 (30%) } # EOR GENR { RETE|ID 1 HUgn0000991 CHR 1 1 DID 1 LocusLink:991 MAP 1 1p34.1 NAM 1 CDC20 cell division cycle 20 homolog (S. cerevisiae) ORG 1 Homo sapiens SYM 1 CDC20 ID|HUgn0000991 DID|LocusLink:991 ORG|Homo sapiens RSQ|REFSEQ:NM_001255 RPA|REFPROT:NP_001246 DBA|XM:NM_001255 |NA:AF099644 |NA:BC000624 |NA:BC001088 |NA:BC006272 |NA:BC009425 |NA:BC009426 |NA:BC010044 |NA:BC012803 |NA:BC012827 |NA:BC013303 |NA:BC015998 |NA:BC024257 |NA:BC031294 |NA:BT007388 |NA:U05340 PAC|XP:NP_001246 SYM|CDC20 NAM|CDC20 cell division cycle 20 homolog (S. cerevisiae) SYN|p55CDC FNC|cell division cycle 20 |mitosis ; GO:0007067 |ubiquitin-dependent protein catabolism ; GO:0006511 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|CDC20 appears to act as a regulatory protein interacting with several other proteins |at multiple points in the cell cycle. It is required for two microtubule-dependent |processes, nuclear movement prior to anaphase and chromosome separation. CHR|1 PRD|cell division cycle 20, S.cerevisiae homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82906 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=991[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:701611 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001255 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001255 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82906 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04120 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26257 DBL|UNIGENE:Hs.82906 |OMIM:603618 |SNP:991 MAP|1p34.1 CEL|spindle ; GO:0005819 HG|species == rat; score == 926; expect == 0.0; MEOW:ref|NP_741990.1| (94%) |species == Mouse; gene == Cdc20; score == 924; expect == 0.0; MEOW:MGgn0014105 (94%) |species == Fruitfly; gene == fzy; score == 495; expect == 2e-140; MEOW:FBgn0001086 (49%) |species == Mosquito; gene == LOC15076; score == 471; expect == 3e-133; MEOW:AGgn0015076 (46%) |species == rice; score == 387; expect == 1e-107; MEOW:gnl|TIGR|8352.m04729 (48%) |species == Weed; gene == At4g33270; score == 386; expect == 1e-107; MEOW:ATgn0018080 (43%) |species == Weed; gene == FZR; score == 384; expect == 7e-107; MEOW:ATgn0018079 (47%) |species == rice; score == 379; expect == 5e-105; MEOW:gnl|TIGR|8351.m04479 (46%) |species == Weed; gene == At5g27080; score == 354; expect == 5.1e-98; MEOW:ATgn0024956 (43%) |species == Weed; gene == At5g26900; score == 351; expect == 5.3e-97; MEOW:ATgn0024918 (44%) |species == Weed; gene == At5g27570; score == 347; expect == 6.9e-96; MEOW:ATgn0025623 (51%) |species == Weed; gene == At5g13840; score == 327; expect == 6.9e-90; MEOW:ATgn0026251 (51%) |species == Human; gene == FZR1; score == 325; expect == 2.7e-89; MEOW:HUgn0051343 (40%) |species == Weed; gene == At4g22910; score == 324; expect == 8.4e-89; MEOW:ATgn0017766 (49%) |species == rice; score == 323; expect == 1.6e-88; MEOW:gnl|TIGR|8360.m00213 (50%) |species == Weed; gene == CDC20; score == 322; expect == 4.0e-88; MEOW:ATgn0020234 (42%) |species == rice; score == 319; expect == 2.1e-87; MEOW:gnl|TIGR|8357.m00416 (43%) |species == rice; score == 313; expect == 2.9e-85; MEOW:gnl|TIGR|8350.m06968 (50%) |species == Human; gene == FLJ37927; score == 307; expect == 1.4e-83; MEOW:HUgn0166979 (50%) |species == Yeast; gene == CDH1; score == 294; expect == 1.0e-79; MEOW:SGgn0002971 (39%) |species == Yeast; gene == CDC20; score == 255; expect == 5.8e-68; MEOW:SGgn0003084 (34%) } # EOR GENR { RETE|ID 1 HUgn0000993 CHR 1 3 DID 1 LocusLink:993 MAP 1 3p21 NAM 1 cell division cycle 25A ORG 1 Homo sapiens SYM 1 CDC25A ID|HUgn0000993 DID|LocusLink:993 ORG|Homo sapiens RSQ|REFSEQ:NM_001789 RPA|REFPROT:NP_001780 DBA|XM:NM_001789 |NA:AF112978 |NA:AJ242714 |NA:AY137580 |NA:BC007401 |NA:BC018642 |NA:M81933 |NA:none PAC|XP:NP_001780 SYM|CDC25A NAM|cell division cycle 25A FNC|cell division cycle 25A |regulation of CDK activity ; GO:0000079 |mitosis ; GO:0007067 |protein amino acid dephosphorylation ; GO:0006470 |cytokinesis ; GO:0000910 REAB|CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression |from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase |CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response |to DNA damage, which prevents cells with chromosomal abnormalities from progressing |through cell division. CDC25A is an oncogene, although its exact role in oncogenesis |has not been demonstrated. CHR|3 PRD|protein-tyrosine-phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1634 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=993[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133773 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001789 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001789 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1634 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.1634 |OMIM:116947 |SNP:993 ENZ|EC:3.1.3.48 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 MAP|3p21 CEL|intracellular ; GO:0005622 |cellular_component unknown ; GO:0008372 HG|species == rat; score == 827; expect == 0.0; MEOW:ref|NP_598255.1| (82%) |species == Mouse; gene == Cdc25a; score == 822; expect == 0.0; MEOW:MGgn0001214 (81%) |species == Human; gene == CDC25B; score == 384; expect == 9e-107; MEOW:HUgn0000994 (44%) |species == Zfish; gene == cdc25; score == 239; expect == 1.8e-64; MEOW:ZFgn0000884 (75%) |species == Mosquito; gene == LOC17780; score == 202; expect == 2.1e-52; MEOW:AGgn0017780 (41%) |species == Fruitfly; gene == stg; score == 189; expect == 1.5e-48; MEOW:FBgn0003525 (35%) } # EOR GENR { RETE|ID 1 HUgn0000994 CHR 1 20 DID 1 LocusLink:994 MAP 1 20p13 NAM 1 cell division cycle 25B ORG 1 Homo sapiens SYM 1 CDC25B ID|HUgn0000994 DID|LocusLink:994 ORG|Homo sapiens RSQ|REFSEQ:NM_004358 |REFSEQ:NM_021872 |REFSEQ:NM_021873 |REFSEQ:NM_021874 RPA|REFPROT:NP_004349 |REFPROT:NP_068658 |REFPROT:NP_068659 |REFPROT:NP_068660 DBA|XM:NM_004358 |XM:NM_021872 |XM:NM_021873 |XM:NM_021874 |NA:AF036233 |NA:X96436 |NA:BC006395 |NA:BC009953 |NA:BC051711 |NA:BX640836 |NA:M81934 |NA:S78187 |NA:Z68092 PAC|XP:NP_004349 |XP:NP_068658 |XP:NP_068659 |XP:NP_068660 SYM|CDC25B NAM|cell division cycle 25B FNC|cell division cycle 25B isoform 1 |cell division cycle 25B isoform 2 |cell division cycle 25B isoform 3 |cell division cycle 25B isoform 4 |positive regulation of cell proliferation ; GO:0008284 |mitosis ; GO:0007067 |regulation of cell cycle ; GO:0000074 REAB|CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin |dependent kinase CDC2 by removing two phosphate groups and it is required for entry |into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear |localization and nuclear export signals. The protein is nuclear in the M and G1 |phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has |oncogenic properties, although its role in tumor formation has not been determined. |At least four transcript variants for this gene exist. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153752 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=994[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133774 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021874 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021874 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=153752 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.153752 |OMIM:116949 |SNP:994 ENZ|EC:3.1.3.48 |protein tyrosine phosphatase activity ; GO:0004725 MAP|20p13 HG|species == Mouse; gene == Cdc25b; score == 874; expect == 0.0; MEOW:MGgn0001215 (78%) |species == rat; score == 827; expect == 0.0; MEOW:ref|NP_598256.1| (78%) |species == Human; gene == CDC25A; score == 384; expect == 9e-107; MEOW:HUgn0000993 (44%) |species == Zfish; gene == cdc25; score == 214; expect == 1.2e-56; MEOW:ZFgn0000884 (69%) |species == Fruitfly; gene == stg; score == 194; expect == 6.5e-50; MEOW:FBgn0003525 (37%) |species == Mosquito; gene == LOC17780; score == 190; expect == 1.1e-48; MEOW:AGgn0017780 (47%) |species == Fruitfly; gene == twe; score == 161; expect == 8.0e-40; MEOW:FBgn0002673 (34%) } # EOR GENR { RETE|ID 1 HUgn0000995 CHR 1 5 DID 1 LocusLink:995 MAP 1 5q31 NAM 1 cell division cycle 25C ORG 1 Homo sapiens SYM 1 CDC25C ID|HUgn0000995 DID|LocusLink:995 ORG|Homo sapiens RSQ|REFSEQ:NM_001790 |REFSEQ:NM_022809 RPA|REFPROT:NP_001781 |REFPROT:NP_073720 DBA|XM:NM_001790 |XM:NM_022809 |NA:Z29077 |NA:AF086323 |NA:AF277723 |NA:AF277724 |NA:AF277725 |NA:AF277726 |NA:AJ304504 |NA:AK097710 |NA:BC019089 |NA:M34065 |NA:none PAC|XP:NP_001781 |XP:NP_073720 SYM|CDC25C NAM|cell division cycle 25C SYN|CDC25 FNC|cell division cycle 25C protein isoform a |cell division cycle 25C protein isoform b |regulation of mitosis ; GO:0007088 |regulation of CDK activity ; GO:0000079 |start control point of mitotic cell cycle ; GO:0007089 |protein amino acid dephosphorylation ; GO:0006470 |cytokinesis ; GO:0000910 REAB|This gene is highly conserved during evolution and it plays a key role in the regulation |of cell division. The encoded protein is a tyrosine phosphatase and belongs to the |Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and |triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. |Multiple alternatively spliced transcript variants of this gene have been described, |however, the full-length nature of many of them is not known. CHR|5 PRD|mitosis inducer CDC25 |phosphotyrosine phosphatase |m-phase inducer phosphatase 3 |dual specificity phosphatase CDC25C URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=656 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=995[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129559 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001790 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001790 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=656 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.656 |OMIM:157680 |SNP:995 ENZ|EC:3.1.3.48 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 MAP|5q31 CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Cdc25c; score == 523; expect == 6e-149; MEOW:MGgn0001216 (58%) |species == rat; score == 503; expect == 6e-143; MEOW:ref|XP_226071.2| (56%) |species == Human; gene == CDC25B; score == 265; expect == 5.4e-71; MEOW:HUgn0000994 (43%) |species == Human; gene == CDC25A; score == 255; expect == 3.3e-68; MEOW:HUgn0000993 (48%) |species == Fruitfly; gene == stg; score == 190; expect == 7.6e-49; MEOW:FBgn0003525 (46%) |species == Mosquito; gene == LOC17780; score == 188; expect == 2.7e-48; MEOW:AGgn0017780 (45%) |species == Zfish; gene == cdc25; score == 179; expect == 1.5e-46; MEOW:ZFgn0000884 (55%) |species == Fruitfly; gene == twe; score == 169; expect == 1.8e-42; MEOW:FBgn0002673 (36%) } # EOR GENR { RETE|ID 1 HUgn0000996 CHR 1 17 DID 1 LocusLink:996 MAP 1 17q12-17q23.2 NAM 1 cell division cycle 27 ORG 1 Homo sapiens SYM 1 CDC27 ID|HUgn0000996 DID|LocusLink:996 ORG|Homo sapiens RSQ|REFSEQ:NM_001256 RPA|REFPROT:NP_001247 DBA|XM:NM_001256 |NA:AU135593 |NA:BC011656 |NA:S78234 |NA:U00001 |NA:none PAC|XP:NP_001247 SYM|CDC27 NAM|cell division cycle 27 SYN|APC3 |HNUC |D0S1430E |D17S978E FNC|cell division cycle protein 27 |mitotic metaphase/anaphase transition ; GO:0007091 |cell proliferation ; GO:0008283 REAB|The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae |protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein |is a component of anaphase-promoting complex (APC), which is composed of eight protein |subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of |cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis |of B-type cyclins. This protein and 3 other members of the APC complex contain the |TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. |This protein was shown to interact with mitotic checkpoint proteins including Mad2, |p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. CHR|17 PRD|nuc2 homolog |anaphase-promoting complex, protein 3 |cell division cycle protein 27 homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406631 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=996[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:291218 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001256 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001256 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04120 DBL|UNIGENE:Hs.406631 |OMIM:116946 |SNP:996 MAP|17q12-17q23.2 CEL|spindle ; GO:0005819 |centrosome ; GO:0005813 |anaphase-promoting complex ; GO:0005680 |nucleus ; GO:0005634 HG|species == rat; score == 1567; expect == 0.0; MEOW:ref|XP_340922.1| (97%) |species == Mouse; gene == Cdc27; score == 714; expect == 0.0; MEOW:MGgn0001217 (93%) |species == Mosquito; score == 577; expect == 7e-165; MEOW:AGgn0009284 (40%) |species == Fruitfly; gene == Cdc27; score == 486; expect == 2e-137; MEOW:FBgn0012058 (38%) |species == rice; score == 414; expect == 2e-115; MEOW:gnl|TIGR|8354.m03881 (33%) |species == Weed; gene == At2g20000; score == 393; expect == 2e-109; MEOW:ATgn0009229 (32%) |species == Weed; gene == At3g16320; score == 315; expect == 8.7e-86; MEOW:ATgn0014269 (41%) |species == Worm; gene == mat-1; score == 301; expect == 6.8e-82; MEOW:CEgn0026350 (28%) |species == Yeast; gene == CDC27; score == 281; expect == 3.0e-76; MEOW:SGgn0000180 (27%) } # EOR GENR { RETE|ID 1 HUgn0000997 CHR 1 19 DID 1 LocusLink:997 MAP 1 19p13.3 NAM 1 cell division cycle 34 ORG 1 Homo sapiens SYM 1 CDC34 ID|HUgn0000997 DID|LocusLink:997 ORG|Homo sapiens RSQ|REFSEQ:NM_004359 RPA|REFPROT:NP_004350 DBA|XM:NM_004359 |NA:BC002332 |NA:BC009850 |NA:BC018143 |NA:BC023979 |NA:L22005 |NA:none PAC|XP:NP_004350 SYM|CDC34 NAM|cell division cycle 34 SYN|UBE2R1 |E2-CDC34 FNC|cell division cycle 34 |G1/S transition of mitotic cell cycle ; GO:0000082 |ubiquitin cycle ; GO:0006512 |DNA replication initiation ; GO:0006270 REAB|The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme |family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin |to other proteins. This protein is a part of the large multiprotein complex, which |is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and |for the initiation of DNA replication. CHR|19 PRD|ubiquitin-protein ligase |ubiquitin carrier protein |ubiquitin-conjugating enzyme E2-32 KDA complementing URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=423615 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=997[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:266436 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004359 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004359 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=423615 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04120 DBL|UNIGENE:Hs.423615 |OMIM:116948 |SNP:997 ENZ|EC:6.3.2.19 |ubiquitin conjugating enzyme activity ; GO:0004840 |ubiquitin-protein ligase activity ; GO:0004842 |ligase activity ; GO:0016874 MAP|19p13.3 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdc34; score == 431; expect == 1e-121; MEOW:MGgn0001222 (95%) |species == rat; score == 428; expect == 1e-120; MEOW:ref|XP_216827.1| (95%) |species == Human; gene == UBE2R2; score == 372; expect == 9e-104; MEOW:HUgn0054926 (84%) |species == Mouse; gene == Ube2r2; score == 372; expect == 6e-104; MEOW:MGgn0016454 (84%) |species == Mosquito; score == 307; expect == 2.7e-84; MEOW:AGgn0014351 (73%) |species == Worm; gene == ubc-3; score == 265; expect == 8.5e-72; MEOW:CEgn0002884 (64%) |species == Fruitfly; gene == CG7656; score == 224; expect == 1.4e-59; MEOW:FBgn0036516 (67%) |species == Weed; gene == UBC14; score == 171; expect == 4.1e-43; MEOW:ATgn0014259 (50%) |species == Weed; gene == UBC13; score == 169; expect == 1.6e-42; MEOW:ATgn0013431 (53%) |species == Yeast; gene == CDC34; score == 149; expect == 1.8e-36; MEOW:SGgn0002461 (35%) |species == Weed; gene == UBC7; score == 147; expect == 4.9e-36; MEOW:ATgn0025863 (53%) |species == Yeast; gene == QRI8; score == 143; expect == 2.0e-35; MEOW:SGgn0004624 (49%) } # EOR GENR { RETE|ID 1 HUgn0000998 CHR 1 1 DID 1 LocusLink:998 MAP 1 1p36.1 NAM 1 cell division cycle 42 (GTP binding protein, 25kDa) ORG 1 Homo sapiens SYM 1 CDC42 ID|HUgn0000998 DID|LocusLink:998 ORG|Homo sapiens RSQ|REFSEQ:NM_001791 |REFSEQ:NM_044472 RPA|REFPROT:NP_001782 |REFPROT:NP_426359 DBA|XM:NM_001791 |XM:NM_044472 |NA:AL121734 |NA:AL121735 |NA:AL121736 |NA:AL121737 |NA:BC002711 |NA:BC003682 |NA:BC018266 |NA:BC018622 |NA:M35543 |NA:M57298 |NA:none PAC|XP:NP_001782 |XP:NP_426359 SYM|CDC42 NAM|cell division cycle 42 (GTP binding protein, 25kDa) SYN|G25K |CDC42Hs FNC|cell division cycle 42 isoform 1 |cell division cycle 42 isoform 2 |actin filament organization ; GO:0007015 |small GTPase mediated signal transduction ; GO:0007264 REAB|The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates |signaling pathways that control diverse cellular functions including cell morphology, |migration, endocytosis and cell cycle progression. This protein is highly similar |to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 |mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation |of GDP from this protein. This protein could regulate actin polymerization through |its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently |activates Arp2/3 complex. Alternative splicing of this gene results in at least |two transcript variants. CHR|1 PRD|GTP-binding protein, 25kD |cell division cycle 42 (GTP binding protein, 25kD) |cell division cycle 42 (GTP-binding protein, 25kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355832 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=998[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127540 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001791 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001791 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355832 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.355832 |OMIM:116952 |SNP:998 MAP|1p36.1 ENZ|Rho small monomeric GTPase activity ; GO:0003931 |GTP binding ; GO:0005525 CEL|filopodium ; GO:0030175 HG|species == Mouse; gene == Cdc42; score == 390; expect == 2e-109; MEOW:MGgn0001224 (100%) |species == rat; score == 388; expect == 1e-108; MEOW:ref|NP_741991.2| (99%) |species == Fruitfly; gene == Cdc42; score == 362; expect == 4e-101; MEOW:FBgn0010341 (92%) |species == Mosquito; gene == LOC23777; score == 361; expect == 1e-100; MEOW:AGgn0023777 (92%) |species == Worm; gene == cdc-42; score == 350; expect == 1.9e-97; MEOW:CEgn0000144 (86%) |species == Yeast; gene == CDC42; score == 321; expect == 1.3e-88; MEOW:SGgn0004219 (80%) |species == Human; gene == RAC1; score == 285; expect == 7.9e-78; MEOW:HUgn0005879 (70%) |species == Human; gene == RAC3; score == 280; expect == 4.3e-76; MEOW:HUgn0005881 (69%) |species == Human; gene == RAC2; score == 276; expect == 3.7e-75; MEOW:HUgn0005880 (68%) |species == Human; gene == LOC256000; score == 273; expect == 3.1e-74; MEOW:HUgn0256000 (68%) |species == Human; gene == ARHQ; score == 267; expect == 2.9e-72; MEOW:HUgn0023433 (67%) |species == Human; gene == LOC286472; score == 256; expect == 3.9e-69; MEOW:HUgn0286472 (64%) |species == Human; gene == LOC284988; score == 254; expect == 1.0e-67; MEOW:HUgn0284988 (65%) |species == Human; gene == ARHG; score == 253; expect == 5.7e-68; MEOW:HUgn0000391 (60%) |species == Human; gene == ARHJ; score == 251; expect == 1.3e-67; MEOW:HUgn0057381 (64%) |species == Human; gene == ARHU; score == 235; expect == 2.6e-62; MEOW:HUgn0058480 (59%) |species == Weed; gene == At3g51300; score == 212; expect == 1.1e-55; MEOW:ATgn0016712 (54%) |species == Weed; gene == At4g35020; score == 212; expect == 8.6e-56; MEOW:ATgn0019869 (55%) |species == Weed; gene == At1g75840; score == 211; expect == 2.5e-55; MEOW:ATgn0001933 (53%) |species == Weed; gene == At2g17800; score == 211; expect == 1.9e-55; MEOW:ATgn0028405 (54%) |species == Weed; gene == At1g20090; score == 210; expect == 4.3e-55; MEOW:ATgn0002656 (52%) |species == Weed; gene == At4g35950; score == 209; expect == 7.3e-55; MEOW:ATgn0017181 (54%) |species == Weed; gene == At5g45970; score == 209; expect == 5.6e-55; MEOW:ATgn0025201 (55%) |species == Weed; gene == At2g44690; score == 206; expect == 6.2e-54; MEOW:ATgn0009384 (53%) |species == rice; score == 203; expect == 1.4e-52; MEOW:gnl|TIGR|8351.m00185 (50%) |species == Weed; gene == At4g28950; score == 201; expect == 2.0e-52; MEOW:ATgn0020080 (51%) |species == rice; score == 201; expect == 5.5e-52; MEOW:gnl|TIGR|8351.m05658 (49%) |species == Weed; gene == At3g48040; score == 200; expect == 4.4e-52; MEOW:ATgn0014385 (51%) |species == Weed; gene == At5g62880; score == 196; expect == 1.0e-50; MEOW:ATgn0023129 (52%) |species == rice; score == 196; expect == 1.3e-50; MEOW:gnl|TIGR|8351.m04847 (53%) |species == rice; score == 196; expect == 1.3e-50; MEOW:gnl|TIGR|8353.m03879 (52%) |species == rice; score == 184; expect == 2.9e-47; MEOW:gnl|TIGR|8350.m01196 (45%) |species == rice; score == 180; expect == 5.0e-46; MEOW:gnl|TIGR|8351.m01941 (50%) |species == rice; score == 175; expect == 1.2e-44; MEOW:gnl|TIGR|8354.m01191 (51%) } # EOR GENR { RETE|ID 1 HUgn0000999 CHR 1 16 DID 1 LocusLink:999 MAP 1 16q22.1 NAM 1 cadherin 1, type 1, E-cadherin (epithelial) ORG 1 Homo sapiens SYM 1 CDH1 ID|HUgn0000999 DID|LocusLink:999 ORG|Homo sapiens RSQ|REFSEQ:NM_004360 RPA|REFPROT:NP_004351 DBA|XM:NM_004360 |NA:D49685 |NA:L34545 |NA:L34789 |NA:S72492 |NA:Z35402 |NA:AB025105 |NA:AB025106 |NA:AI890107 |NA:L08599 |NA:X12790 |NA:X52279 |NA:Z13009 |NA:Z18923 PAC|XP:NP_004351 SYM|CDH1 NAM|cadherin 1, type 1, E-cadherin (epithelial) SYN|UVO |CDHE |ECAD |LCAM FNC|cadherin 1, type 1 preproprotein REAB|This gene is a classical cadherin from the cadherin superfamily. The encoded protein |is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular |cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. |Mutations in this gene are correlated with gastric, breast, colorectal, thyroid |and ovarian cancer. Loss of function is thought to contribute to progression in |cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain |of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic |domain is required for internalization. Identified transcript variants arise from |mutation at consensus splice sites. CHR|16 PRD|Arc-1 |uvomorulin |cell-CAM 120/80 |cadherin 1, E-cadherin (epithelial) |calcium-dependent adhesion protein, epithelial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194657 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=999[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004360 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004360 |http://www.geneclinics.org/query?mim=192090 DBL|UNIGENE:Hs.194657 |OMIM:192090 |SNP:999 |UWCM:120484.html MAP|16q22.1 PHP|Breast cancer, lobular |Endometrial carcinoma |Gastric cancer, familial diffuse |Listeria monocytogenes, susceptibility to |Ovarian carcinoma ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |tumor suppressor ; GO:0008181 |cell adhesion molecule activity ; GO:0005194 HG|species == rat; score == 1278; expect == 0.0; MEOW:ref|NP_112624.1| (80%) |species == Mouse; gene == Cdh1; score == 1250; expect == 0.0; MEOW:MGgn0001235 (81%) |species == Human; gene == CDH3; score == 804; expect == 0.0; MEOW:HUgn0001001 (54%) |species == Zfish; gene == cdh1; score == 761; expect == 0.0; MEOW:ZFgn0002231 (52%) |species == Fruitfly; gene == stan; score == 136; expect == 3.5e-32; MEOW:FBgn0024836 (29%) |species == Fruitfly; gene == fat2; score == 133; expect == 2.9e-31; MEOW:FBgn0036930 (29%) } # EOR GENR { RETE|ID 1 HUgn0001000 CHR 1 18 DID 1 LocusLink:1000 MAP 1 18q11.2 NAM 1 cadherin 2, type 1, N-cadherin (neuronal) ORG 1 Homo sapiens SYM 1 CDH2 ID|HUgn0001000 DID|LocusLink:1000 ORG|Homo sapiens RSQ|REFSEQ:NM_001792 RPA|REFPROT:NP_001783 DBA|XM:NM_001792 |NA:Z27420 |NA:AI675151 |NA:AI752180 |NA:AW016710 |NA:BC021695 |NA:BC036470 |NA:BG197310 |NA:M34064 |NA:S42303 |NA:X54315 |NA:X57548 |NA:none PAC|XP:NP_001783 SYM|CDH2 NAM|cadherin 2, type 1, N-cadherin (neuronal) SYN|CDHN |NCAD FNC|cadherin 2, type 1 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a classical cadherin from the cadherin superfamily. The encoded protein |is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular |cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. |The protein functions during gastrulation and is required for establishment of left-right |asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic |adhesion is mediated at least in part by this gene product. CHR|18 PRD|N-cadherin 1 |neural cadherin |cadherin 2, N-cadherin (neuronal) |calcium-dependent adhesion protein, neuronal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334131 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1000[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001792 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001792 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334131 DBL|UNIGENE:Hs.334131 |OMIM:114020 |SNP:1000 MAP|18q11.2 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cdh2; score == 1555; expect == 0.0; MEOW:MGgn0001244 (96%) |species == rat; score == 1553; expect == 0.0; MEOW:ref|XP_346509.1| (96%) |species == Zfish; gene == cdh2; score == 1142; expect == 0.0; MEOW:ZFgn0000469 (72%) |species == Human; gene == CDH4; score == 1116; expect == 0.0; MEOW:HUgn0001002 (65%) |species == Mosquito; gene == LOC7517; score == 229; expect == 3.7e-60; MEOW:AGgn0007517 (31%) |species == Fruitfly; gene == CadN; score == 167; expect == 1.1e-41; MEOW:FBgn0015609 (31%) |species == Fruitfly; gene == ft; score == 162; expect == 3.6e-40; MEOW:FBgn0001075 (28%) |species == Fruitfly; gene == ds; score == 152; expect == 3.7e-37; MEOW:FBgn0000497 (28%) |species == Fruitfly; gene == stan; score == 139; expect == 3.2e-33; MEOW:FBgn0024836 (26%) |species == Fruitfly; gene == fat2; score == 135; expect == 8.0e-32; MEOW:FBgn0036930 (27%) |species == Fruitfly; gene == CadN2; score == 134; expect == 1.0e-31; MEOW:FBgn0032655 (29%) } # EOR GENR { RETE|ID 1 HUgn0001001 CHR 1 16 DID 1 LocusLink:1001 MAP 1 16q22.1 NAM 1 cadherin 3, type 1, P-cadherin (placental) ORG 1 Homo sapiens SYM 1 CDH3 ID|HUgn0001001 DID|LocusLink:1001 ORG|Homo sapiens RSQ|REFSEQ:NM_001793 RPA|REFPROT:NP_001784 DBA|XM:NM_001793 |NA:X95824 |NA:AI149268 |NA:BC014462 |NA:BC041846 |NA:X63629 |NA:none PAC|XP:NP_001784 SYM|CDH3 NAM|cadherin 3, type 1, P-cadherin (placental) SYN|CDHP |HJMD |PCAD FNC|cadherin 3, type 1 preproprotein |homophilic cell adhesion ; GO:0007156 |vision ; GO:0007601 |cell adhesion ; GO:0007155 REAB|This gene is a classical cadherin from the cadherin superfamily. The encoded protein |is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular |cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. |This gene is located in a six-cadherin cluster in a region on the long arm of chromosome |16 that is involved in loss of heterozygosity events in breast and prostate cancer. |In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. CHR|16 PRD|P-cadherin |placental cadherin |cadherin 3, P-cadherin (placental) |calcium-dependent adhesion protein, placental URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=191842 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1001[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132860 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001793 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001793 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=191842 DBL|UNIGENE:Hs.191842 |OMIM:114021 |SNP:1001 MAP|16q22.1 PHP|Hypotrichosis, congential, with juvenile macular dystrophy ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1243; expect == 0.0; MEOW:ref|XP_226426.2| (83%) |species == Mouse; gene == Cdh3; score == 1238; expect == 0.0; MEOW:MGgn0001246 (82%) |species == Human; gene == CDH1; score == 804; expect == 0.0; MEOW:HUgn0000999 (54%) |species == Zfish; gene == cdh1; score == 641; expect == 0.0; MEOW:ZFgn0002231 (47%) |species == Zfish; gene == cdh2; score == 538; expect == 3e-154; MEOW:ZFgn0000469 (42%) |species == Mosquito; gene == LOC14551; score == 166; expect == 2.8e-41; MEOW:AGgn0014551 (27%) |species == Mosquito; gene == LOC10132; score == 160; expect == 1.5e-39; MEOW:AGgn0010132 (29%) |species == Mosquito; score == 159; expect == 3.4e-39; MEOW:AGgn0001731 (29%) |species == Mosquito; gene == LOC10175; score == 159; expect == 3.4e-39; MEOW:AGgn0010175 (29%) |species == Mosquito; score == 159; expect == 3.4e-39; MEOW:AGgn0010219 (29%) |species == Fruitfly; gene == stan; score == 158; expect == 6.1e-39; MEOW:FBgn0024836 (28%) |species == Fruitfly; gene == CadN; score == 157; expect == 1.0e-38; MEOW:FBgn0015609 (29%) |species == Fruitfly; gene == fat2; score == 152; expect == 5.7e-37; MEOW:FBgn0036930 (27%) |species == Mosquito; gene == LOC10153; score == 151; expect == 7.1e-37; MEOW:AGgn0010153 (28%) |species == Mosquito; gene == LOC1238; score == 149; expect == 3.5e-36; MEOW:AGgn0001238 (25%) |species == Mosquito; score == 148; expect == 7.8e-36; MEOW:AGgn0007226 (27%) |species == Mosquito; gene == LOC9993; score == 147; expect == 1.3e-35; MEOW:AGgn0009993 (29%) |species == Fruitfly; gene == ds; score == 147; expect == 1.1e-35; MEOW:FBgn0000497 (30%) |species == Fruitfly; gene == Cad74A; score == 145; expect == 7.0e-35; MEOW:FBgn0036715 (28%) |species == Fruitfly; gene == ft; score == 142; expect == 3.5e-34; MEOW:FBgn0001075 (28%) |species == Mosquito; gene == LOC13129; score == 136; expect == 3.1e-32; MEOW:AGgn0013129 (28%) } # EOR GENR { RETE|ID 1 HUgn0001002 CHR 1 20 DID 1 LocusLink:1002 MAP 1 20q13.3 NAM 1 cadherin 4, type 1, R-cadherin (retinal) ORG 1 Homo sapiens SYM 1 CDH4 ID|HUgn0001002 DID|LocusLink:1002 ORG|Homo sapiens RSQ|REFSEQ:NM_001794 RPA|REFPROT:NP_001785 DBA|XM:NM_001794 |NA:AL109911 |NA:AL162457 |NA:AL365229 |NA:AL365401 |NA:AI422259 |NA:AK091496 |NA:AK124724 |NA:L34059 PAC|XP:NP_001785 SYM|CDH4 NAM|cadherin 4, type 1, R-cadherin (retinal) SYN|CAD4 |RCAD FNC|cadherin 4, type 1 preproprotein |cell adhesion ; GO:0007155 REAB|This gene is a classical cadherin from the cadherin superfamily. The encoded protein |is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular |cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. |Based on studies in chicken and mouse, this cadherin is thought to play an important |role during brain segmentation and neuronal outgrowth. In addition, a role in kidney |and muscle development is indicated. Of particular interest are studies showing |stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously |thought to interact in an exclusively homophilic manner, this is the first evidence |of cadherin heterodimerization. CHR|20 PRD|R-cadherin |retinal cadherin |cadherin 4, R-cadherin (retinal) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=376792 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1002[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:622850 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001794 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001794 DBL|UNIGENE:Hs.376792 |OMIM:603006 |SNP:1002 MAP|20q13.3 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 CEL|plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cdh4; score == 1557; expect == 0.0; MEOW:MGgn0001247 (92%) |species == Human; gene == CDH2; score == 1116; expect == 0.0; MEOW:HUgn0001000 (65%) |species == rat; score == 1105; expect == 0.0; MEOW:ref|XP_346509.1| (65%) |species == Zfish; gene == cdh2; score == 1020; expect == 0.0; MEOW:ZFgn0000469 (60%) |species == Mosquito; gene == LOC7517; score == 227; expect == 1.4e-59; MEOW:AGgn0007517 (32%) |species == Mosquito; gene == LOC10132; score == 195; expect == 4.8e-50; MEOW:AGgn0010132 (30%) |species == Mosquito; score == 192; expect == 4.1e-49; MEOW:AGgn0001731 (30%) |species == Mosquito; gene == LOC10175; score == 192; expect == 4.1e-49; MEOW:AGgn0010175 (30%) |species == Mosquito; score == 192; expect == 4.1e-49; MEOW:AGgn0010219 (30%) |species == Fruitfly; gene == CadN; score == 192; expect == 5.6e-49; MEOW:FBgn0015609 (30%) |species == Mosquito; gene == LOC10153; score == 183; expect == 3.2e-46; MEOW:AGgn0010153 (30%) |species == Fruitfly; gene == ft; score == 179; expect == 3.7e-45; MEOW:FBgn0001075 (25%) |species == Fruitfly; gene == stan; score == 176; expect == 2.4e-44; MEOW:FBgn0024836 (29%) |species == Fruitfly; gene == ds; score == 169; expect == 5.0e-42; MEOW:FBgn0000497 (26%) |species == Fruitfly; gene == CadN2; score == 160; expect == 1.8e-39; MEOW:FBgn0032655 (28%) } # EOR GENR { RETE|ID 1 HUgn0001003 CHR 1 16 DID 1 LocusLink:1003 MAP 1 16q22.1 NAM 1 cadherin 5, type 2, VE-cadherin (vascular epithelium) ORG 1 Homo sapiens SYM 1 CDH5 ID|HUgn0001003 DID|LocusLink:1003 ORG|Homo sapiens RSQ|REFSEQ:NM_001795 RPA|REFPROT:NP_001786 DBA|XM:NM_001795 |NA:AB035304 |NA:U84722 |NA:X59796 |NA:X79981 |NA:none PAC|XP:NP_001786 SYM|CDH5 NAM|cadherin 5, type 2, VE-cadherin (vascular epithelium) SYN|7B4 FNC|cadherin 5, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a classical cadherin from the cadherin superfamily and is located in |a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved |in loss of heterozygosity events in breast and prostate cancer. The encoded protein |is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular |cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. |Functioning as a classic cadherin by imparting to cells the ability to adhere in |a homophilic manner, the protein may play an important role in endothelial cell |biology through control of the cohesion and organization of the intercellular junctions. CHR|16 PRD|cadherin-5 |7B4 antigen |VE-cadherin |cd144 antigen |endothelial-specific cadherin |vascular endothelial cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76206 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1003[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134230 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001795 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001795 DBL|UNIGENE:Hs.76206 |OMIM:601120 |SNP:1003 MAP|16q22.1 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cdh5; score == 1108; expect == 0.0; MEOW:MGgn0001248 (75%) |species == rat; score == 1057; expect == 0.0; MEOW:ref|XP_226213.2| (76%) |species == Human; gene == CDH20; score == 486; expect == 2e-137; MEOW:HUgn0028316 (41%) |species == Human; gene == CDH9; score == 474; expect == 1e-133; MEOW:HUgn0001007 (40%) |species == Human; gene == CDH11; score == 471; expect == 7e-133; MEOW:HUgn0001009 (40%) |species == Human; gene == CDH18; score == 469; expect == 3e-132; MEOW:HUgn0001016 (41%) |species == Human; gene == CDH8; score == 465; expect == 4e-131; MEOW:HUgn0001006 (40%) |species == Human; gene == CDH10; score == 464; expect == 1e-130; MEOW:HUgn0001008 (41%) |species == Human; gene == CDH6; score == 461; expect == 9e-130; MEOW:HUgn0001004 (40%) |species == Human; gene == CDH7; score == 449; expect == 4e-126; MEOW:HUgn0001005 (40%) |species == Human; gene == CDH12; score == 436; expect == 2e-122; MEOW:HUgn0001010 (38%) |species == Zfish; gene == cdh2; score == 272; expect == 2.4e-74; MEOW:ZFgn0000469 (32%) |species == Zfish; gene == cdh1; score == 270; expect == 9.0e-74; MEOW:ZFgn0002231 (32%) |species == Zfish; gene == cdh11; score == 266; expect == 2.2e-72; MEOW:ZFgn0000032 (37%) |species == Fruitfly; gene == CadN; score == 191; expect == 8.0e-49; MEOW:FBgn0015609 (29%) |species == Mosquito; score == 189; expect == 3.8e-48; MEOW:AGgn0001731 (29%) |species == Mosquito; gene == LOC10175; score == 189; expect == 3.8e-48; MEOW:AGgn0010175 (29%) |species == Mosquito; score == 189; expect == 3.8e-48; MEOW:AGgn0010219 (29%) |species == Mosquito; gene == LOC13129; score == 189; expect == 2.2e-48; MEOW:AGgn0013129 (29%) |species == Mosquito; gene == LOC7517; score == 188; expect == 1.2e-47; MEOW:AGgn0007517 (27%) |species == Mosquito; gene == LOC10153; score == 188; expect == 8.4e-48; MEOW:AGgn0010153 (30%) |species == Mosquito; score == 184; expect == 9.3e-47; MEOW:AGgn0004697 (30%) |species == Fruitfly; gene == stan; score == 184; expect == 9.8e-47; MEOW:FBgn0024836 (29%) |species == Mosquito; gene == LOC1238; score == 183; expect == 1.6e-46; MEOW:AGgn0001238 (31%) |species == Mosquito; gene == LOC10132; score == 183; expect == 1.6e-46; MEOW:AGgn0010132 (29%) |species == Mosquito; gene == LOC13113; score == 181; expect == 6.0e-46; MEOW:AGgn0013113 (30%) |species == Mosquito; gene == LOC14551; score == 181; expect == 6.0e-46; MEOW:AGgn0014551 (30%) |species == Fruitfly; gene == fat2; score == 177; expect == 9.2e-45; MEOW:FBgn0036930 (32%) |species == Fruitfly; gene == ft; score == 173; expect == 1.7e-43; MEOW:FBgn0001075 (30%) |species == Fruitfly; gene == CadN2; score == 173; expect == 2.3e-43; MEOW:FBgn0032655 (29%) |species == Fruitfly; gene == ds; score == 172; expect == 3.8e-43; MEOW:FBgn0000497 (29%) |species == Fruitfly; gene == shg; score == 157; expect == 1.7e-38; MEOW:FBgn0003391 (31%) } # EOR GENR { RETE|ID 1 HUgn0001004 CHR 1 5 DID 1 LocusLink:1004 MAP 1 5p15.1-p14 NAM 1 cadherin 6, type 2, K-cadherin (fetal kidney) ORG 1 Homo sapiens SYM 1 CDH6 ID|HUgn0001004 DID|LocusLink:1004 ORG|Homo sapiens RSQ|REFSEQ:NM_004932 RPA|REFPROT:NP_004923 DBA|XM:NM_004932 |NA:AU130185 |NA:BC000019 |NA:D31784 |NA:none PAC|XP:NP_004923 SYM|CDH6 NAM|cadherin 6, type 2, K-cadherin (fetal kidney) SYN|KCAD FNC|cadherin 6, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 |regulation of transcription, DNA-dependent ; GO:0006355 |cell adhesion ; GO:0007155 REAB|This gene encodes a type II classical cadherin from the cadherin superfamily. The |encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein |comprised of five extracellular cadherin repeats, a transmembrane region and a highly |conserved cytoplasmic tail. Cadherins mediate cell-cell binding in a homophilic |manner, contributing to the sorting of heterogeneous cell types and the maintenance |of orderly structures such as epithelium. Strong transcriptional expression of this |gene has been observed in hepatocellular and renal carcinoma cell lines, suggesting |a possible role in metastasis and invasion. CHR|5 PRD|K-cadherin |kidney cadherin |cadherin, fetal kidney |cadherin 6, K-cadherin (fetal kidney) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32963 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1004[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822908 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004932 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004932 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=32963 DBL|UNIGENE:Hs.32963 |OMIM:603007 |SNP:1004 MAP|5p15.1-p14 ENZ|calcium ion binding ; GO:0005509 |DNA binding ; GO:0003677 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cdh6; score == 1475; expect == 0.0; MEOW:MGgn0001249 (95%) |species == Human; gene == CDH10; score == 1145; expect == 0.0; MEOW:HUgn0001008 (72%) |species == rat; score == 1135; expect == 0.0; MEOW:ref|XP_342203.1| (75%) |species == Human; gene == CDH9; score == 1131; expect == 0.0; MEOW:HUgn0001007 (72%) |species == rat; score == 1129; expect == 0.0; MEOW:ref|XP_226861.2| (72%) |species == Human; gene == CDH12; score == 948; expect == 0.0; MEOW:HUgn0001010 (61%) |species == Human; gene == CDH7; score == 925; expect == 0.0; MEOW:HUgn0001005 (63%) |species == Zfish; gene == cdh11; score == 489; expect == 1e-139; MEOW:ZFgn0000032 (50%) |species == Fruitfly; gene == CadN; score == 221; expect == 9.5e-58; MEOW:FBgn0015609 (29%) |species == Fruitfly; gene == fat2; score == 215; expect == 4.0e-56; MEOW:FBgn0036930 (29%) |species == Mosquito; score == 213; expect == 1.4e-55; MEOW:AGgn0001731 (29%) |species == Mosquito; gene == LOC10132; score == 213; expect == 1.4e-55; MEOW:AGgn0010132 (29%) |species == Mosquito; gene == LOC10175; score == 213; expect == 1.4e-55; MEOW:AGgn0010175 (29%) |species == Mosquito; score == 213; expect == 1.4e-55; MEOW:AGgn0010219 (29%) |species == Mosquito; gene == LOC14551; score == 210; expect == 1.6e-54; MEOW:AGgn0014551 (31%) |species == Mosquito; gene == LOC10153; score == 205; expect == 3.9e-53; MEOW:AGgn0010153 (29%) |species == Fruitfly; gene == stan; score == 204; expect == 9.2e-53; MEOW:FBgn0024836 (30%) |species == Mosquito; score == 203; expect == 2.0e-52; MEOW:AGgn0004697 (30%) |species == Mosquito; gene == LOC1238; score == 201; expect == 7.4e-52; MEOW:AGgn0001238 (30%) |species == Mosquito; score == 200; expect == 1.7e-51; MEOW:AGgn0004696 (29%) |species == Mosquito; gene == LOC13113; score == 196; expect == 1.1e-49; MEOW:AGgn0013113 (29%) |species == Fruitfly; gene == ft; score == 193; expect == 2.8e-49; MEOW:FBgn0001075 (30%) |species == Fruitfly; gene == CadN2; score == 188; expect == 6.8e-48; MEOW:FBgn0032655 (28%) |species == Worm; gene == R10F2.1; score == 164; expect == 1.2e-40; MEOW:CEgn0014784 (30%) } # EOR GENR { RETE|ID 1 HUgn0001005 CHR 1 18 DID 1 LocusLink:1005 MAP 1 18q22-q23 NAM 1 cadherin 7, type 2 ORG 1 Homo sapiens SYM 1 CDH7 ID|HUgn0001005 DID|LocusLink:1005 ORG|Homo sapiens RSQ|REFSEQ:NM_004361 |REFSEQ:NM_033646 RPA|REFPROT:NP_004352 |REFPROT:NP_387450 DBA|XM:NM_004361 |XM:NM_033646 |NA:AB035301 |NA:AJ007611 |NA:BC036786 |NA:none PAC|XP:NP_004352 |XP:NP_387450 SYM|CDH7 NAM|cadherin 7, type 2 SYN|CDH7L1 FNC|cadherin 7, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 REAB|This gene is a type II classical cadherin from the cadherin superfamily. The encoded |membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised |of five extracellular cadherin repeats, a transmembrane region and a highly conserved |cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of |a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins |mediate cell-cell binding in a homophilic manner, contributing to the sorting of |heterogeneous cell types and the maintenance of orderly structures. Alternative |splicing in the 5' UTR of this gene yields variant transcripts encoding the same |protein. CHR|18 PRD|cadherin-7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272211 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1005[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822910 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004361 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004361 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=272211 DBL|UNIGENE:Hs.272211 |OMIM:605806 |SNP:1005 MAP|18q22-q23 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cdh7; score == 1403; expect == 0.0; MEOW:MGgn0041201 (97%) |species == rat; score == 1367; expect == 0.0; MEOW:ref|XP_222491.2| (92%) |species == Human; gene == CDH6; score == 925; expect == 0.0; MEOW:HUgn0001004 (63%) |species == Human; gene == CDH10; score == 914; expect == 0.0; MEOW:HUgn0001008 (64%) |species == Human; gene == CDH9; score == 903; expect == 0.0; MEOW:HUgn0001007 (62%) |species == Human; gene == CDH12; score == 897; expect == 0.0; MEOW:HUgn0001010 (60%) |species == Human; gene == CDH11; score == 866; expect == 0.0; MEOW:HUgn0001009 (58%) |species == Human; gene == CDH20; score == 866; expect == 0.0; MEOW:HUgn0028316 (63%) |species == Human; gene == CDH8; score == 865; expect == 0.0; MEOW:HUgn0001006 (62%) |species == Human; gene == CDH18; score == 860; expect == 0.0; MEOW:HUgn0001016 (64%) |species == Human; gene == CDH22; score == 793; expect == 0.0; MEOW:HUgn0064405 (55%) |species == Zfish; gene == cdh11; score == 495; expect == 3e-140; MEOW:ZFgn0000032 (53%) |species == Mosquito; gene == LOC10153; score == 238; expect == 1.6e-62; MEOW:AGgn0010153 (32%) |species == Mosquito; gene == LOC13113; score == 229; expect == 8.9e-60; MEOW:AGgn0013113 (33%) |species == Mosquito; score == 228; expect == 2.1e-59; MEOW:AGgn0004696 (33%) |species == Mosquito; score == 226; expect == 9.9e-59; MEOW:AGgn0004697 (33%) |species == Mosquito; gene == LOC7517; score == 224; expect == 9.2e-59; MEOW:AGgn0007517 (29%) |species == Fruitfly; gene == CadN; score == 220; expect == 1.6e-57; MEOW:FBgn0015609 (31%) |species == Mosquito; score == 213; expect == 1.9e-55; MEOW:AGgn0001731 (30%) |species == Mosquito; gene == LOC10132; score == 213; expect == 1.9e-55; MEOW:AGgn0010132 (30%) |species == Mosquito; gene == LOC10175; score == 213; expect == 1.9e-55; MEOW:AGgn0010175 (30%) |species == Mosquito; score == 213; expect == 1.9e-55; MEOW:AGgn0010219 (30%) |species == Fruitfly; gene == CadN2; score == 213; expect == 1.3e-54; MEOW:FBgn0032655 (30%) |species == Mosquito; gene == LOC13129; score == 208; expect == 3.0e-53; MEOW:AGgn0013129 (31%) |species == Mosquito; gene == LOC14551; score == 204; expect == 1.1e-52; MEOW:AGgn0014551 (31%) |species == Fruitfly; gene == ft; score == 194; expect == 1.2e-49; MEOW:FBgn0001075 (30%) |species == Fruitfly; gene == stan; score == 192; expect == 4.7e-49; MEOW:FBgn0024836 (31%) |species == Fruitfly; gene == fat2; score == 185; expect == 4.4e-47; MEOW:FBgn0036930 (29%) |species == Worm; gene == R10F2.1; score == 141; expect == 1.5e-33; MEOW:CEgn0014784 (30%) } # EOR GENR { RETE|ID 1 HUgn0001006 CHR 1 16 DID 1 LocusLink:1006 MAP 1 16q22.1 NAM 1 cadherin 8, type 2 ORG 1 Homo sapiens SYM 1 CDH8 ID|HUgn0001006 DID|LocusLink:1006 ORG|Homo sapiens RSQ|REFSEQ:NM_001796 RPA|REFPROT:NP_001787 DBA|XM:NM_001796 |NA:AB035305 |NA:AK124734 |NA:L34060 |NA:R34732 |NA:none PAC|XP:NP_001787 SYM|CDH8 NAM|cadherin 8, type 2 FNC|cadherin 8, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene encodes a type II classical cadherin from the cadherin superfamily, integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular |domain consists of 5 subdomains, each containing a cadherin motif, and appears to |determine the specificity of the protein's homophilic cell adhesion activity. Type |II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition |sequence specific to type I cadherins. This particular cadherin is expressed in |brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. CHR|16 PRD|cadherin-8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388928 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1006[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001796 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001796 DBL|UNIGENE:Hs.388928 |OMIM:603008 |SNP:1006 MAP|16q22.1 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cdh8; score == 1401; expect == 0.0; MEOW:MGgn0001251 (96%) |species == rat; score == 1016; expect == 0.0; MEOW:ref|XP_341640.1| (69%) |species == Human; gene == CDH11; score == 1013; expect == 0.0; MEOW:HUgn0001009 (69%) |species == Human; gene == CDH6; score == 890; expect == 0.0; MEOW:HUgn0001004 (58%) |species == Human; gene == CDH10; score == 880; expect == 0.0; MEOW:HUgn0001008 (58%) |species == rat; score == 875; expect == 0.0; MEOW:ref|XP_342203.1| (60%) |species == Human; gene == CDH7; score == 865; expect == 0.0; MEOW:HUgn0001005 (62%) |species == Human; gene == CDH9; score == 860; expect == 0.0; MEOW:HUgn0001007 (57%) |species == rat; score == 854; expect == 0.0; MEOW:ref|XP_226861.2| (57%) |species == Human; gene == CDH12; score == 845; expect == 0.0; MEOW:HUgn0001010 (58%) |species == rat; score == 844; expect == 0.0; MEOW:ref|XP_222491.2| (59%) |species == Zfish; gene == cdh11; score == 581; expect == 3e-166; MEOW:ZFgn0000032 (60%) |species == Mosquito; score == 238; expect == 3.1e-62; MEOW:AGgn0001731 (31%) |species == Mosquito; gene == LOC10153; score == 238; expect == 1.6e-62; MEOW:AGgn0010153 (33%) |species == Mosquito; gene == LOC10175; score == 238; expect == 3.1e-62; MEOW:AGgn0010175 (31%) |species == Mosquito; score == 233; expect == 8.5e-61; MEOW:AGgn0004696 (32%) |species == Mosquito; gene == LOC7517; score == 233; expect == 2.6e-61; MEOW:AGgn0007517 (32%) |species == Mosquito; score == 228; expect == 1.5e-59; MEOW:AGgn0004697 (33%) |species == Mosquito; gene == LOC10132; score == 224; expect == 1.1e-58; MEOW:AGgn0010132 (31%) |species == Mosquito; score == 222; expect == 4.1e-58; MEOW:AGgn0010219 (31%) |species == Mosquito; gene == LOC13113; score == 220; expect == 4.1e-57; MEOW:AGgn0013113 (33%) |species == Fruitfly; gene == CadN; score == 220; expect == 1.3e-57; MEOW:FBgn0015609 (31%) |species == Mosquito; gene == LOC13129; score == 218; expect == 7.8e-57; MEOW:AGgn0013129 (33%) |species == Mosquito; gene == LOC14551; score == 216; expect == 1.7e-56; MEOW:AGgn0014551 (31%) |species == Fruitfly; gene == stan; score == 207; expect == 1.1e-53; MEOW:FBgn0024836 (31%) |species == Fruitfly; gene == CadN2; score == 204; expect == 6.2e-52; MEOW:FBgn0032655 (30%) |species == Fruitfly; gene == fat2; score == 204; expect == 1.2e-52; MEOW:FBgn0036930 (31%) |species == Fruitfly; gene == ds; score == 189; expect == 4.0e-48; MEOW:FBgn0000497 (31%) |species == Fruitfly; gene == ft; score == 188; expect == 9.0e-48; MEOW:FBgn0001075 (29%) |species == Worm; gene == R10F2.1; score == 141; expect == 8.7e-34; MEOW:CEgn0014784 (28%) } # EOR GENR { RETE|ID 1 HUgn0001007 CHR 1 5 DID 1 LocusLink:1007 MAP 1 5p14 NAM 1 cadherin 9, type 2 (T1-cadherin) ORG 1 Homo sapiens SYM 1 CDH9 ID|HUgn0001007 DID|LocusLink:1007 ORG|Homo sapiens RSQ|REFSEQ:NM_016279 RPA|REFPROT:NP_057363 DBA|XM:NM_016279 |NA:AB035302 |NA:none PAC|XP:NP_057363 SYM|CDH9 NAM|cadherin 9, type 2 (T1-cadherin) FNC|cadherin 9, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 REAB|This gene encodes a type II classical cadherin from the cadherin superfamily, integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular |domain consists of 5 subdomains, each containing a cadherin motif, and appears to |determine the specificity of the protein's homophilic cell adhesion activity. Type |II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition |sequence specific to type I cadherins. CHR|5 PRD|cadherin-9 |T1-cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272212 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1007[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822912 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016279 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016279 DBL|UNIGENE:Hs.272212 |SNP:1007 MAP|5p14 ENZ|calcium ion binding ; GO:0005509 |molecular_function unknown ; GO:0005554 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1444; expect == 0.0; MEOW:ref|XP_226861.2| (91%) |species == Human; gene == CDH6; score == 1131; expect == 0.0; MEOW:HUgn0001004 (72%) |species == Mouse; gene == Cdh6; score == 1113; expect == 0.0; MEOW:MGgn0001249 (70%) |species == Human; gene == CDH10; score == 1102; expect == 0.0; MEOW:HUgn0001008 (69%) |species == Human; gene == CDH12; score == 913; expect == 0.0; MEOW:HUgn0001010 (57%) |species == Mouse; gene == Cdh7; score == 906; expect == 0.0; MEOW:MGgn0041201 (62%) |species == Zfish; gene == cdh11; score == 500; expect == 5e-143; MEOW:ZFgn0000032 (51%) |species == Fruitfly; gene == CadN; score == 214; expect == 6.8e-56; MEOW:FBgn0015609 (29%) |species == Mosquito; gene == LOC10153; score == 206; expect == 2.3e-53; MEOW:AGgn0010153 (30%) |species == Fruitfly; gene == fat2; score == 202; expect == 4.6e-52; MEOW:FBgn0036930 (29%) |species == Mosquito; score == 201; expect == 9.7e-52; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10132; score == 201; expect == 9.7e-52; MEOW:AGgn0010132 (28%) |species == Mosquito; gene == LOC10175; score == 201; expect == 9.7e-52; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 201; expect == 9.7e-52; MEOW:AGgn0010219 (28%) |species == Fruitfly; gene == stan; score == 201; expect == 1.0e-51; MEOW:FBgn0024836 (29%) |species == Mosquito; score == 194; expect == 6.9e-50; MEOW:AGgn0004697 (30%) |species == Mosquito; score == 193; expect == 1.5e-49; MEOW:AGgn0004696 (30%) |species == Mosquito; gene == LOC13129; score == 193; expect == 1.5e-49; MEOW:AGgn0013129 (29%) |species == Mosquito; gene == LOC13113; score == 189; expect == 2.2e-48; MEOW:AGgn0013113 (29%) |species == Mosquito; gene == LOC1238; score == 188; expect == 5.0e-48; MEOW:AGgn0001238 (28%) |species == Fruitfly; gene == CadN2; score == 187; expect == 1.2e-47; MEOW:FBgn0032655 (28%) |species == Fruitfly; gene == ds; score == 173; expect == 2.3e-43; MEOW:FBgn0000497 (30%) |species == Fruitfly; gene == ft; score == 172; expect == 5.1e-43; MEOW:FBgn0001075 (28%) |species == Worm; gene == R10F2.1; score == 147; expect == 1.2e-35; MEOW:CEgn0014784 (28%) } # EOR GENR { RETE|ID 1 HUgn0001008 CHR 1 5 DID 1 LocusLink:1008 MAP 1 5p14-p13 NAM 1 cadherin 10, type 2 (T2-cadherin) ORG 1 Homo sapiens SYM 1 CDH10 ID|HUgn0001008 DID|LocusLink:1008 ORG|Homo sapiens RSQ|REFSEQ:NM_006727 RPA|REFPROT:NP_006718 DBA|XM:NM_006727 |NA:AB035303 |NA:none PAC|XP:NP_006718 SYM|CDH10 NAM|cadherin 10, type 2 (T2-cadherin) FNC|cadherin 10, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 REAB|This gene encodes a type II classical cadherin from the cadherin superfamily, integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular |domain consists of 5 subdomains, each containing a cadherin motif, and appears to |determine the specificity of the protein's homophilic cell adhesion activity. Type |II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition |sequence specific to type I cadherins. This particular cadherin is predominantly |expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth |and guidance. CHR|5 PRD|T2-cadherin |cadherin-10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=92489 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1008[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822913 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006727 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006727 DBL|UNIGENE:Hs.92489 |OMIM:604555 |SNP:1008 MAP|5p14-p13 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1411; expect == 0.0; MEOW:ref|XP_342203.1| (98%) |species == Human; gene == CDH6; score == 1145; expect == 0.0; MEOW:HUgn0001004 (72%) |species == Mouse; gene == Cdh6; score == 1121; expect == 0.0; MEOW:MGgn0001249 (71%) |species == Human; gene == CDH9; score == 1102; expect == 0.0; MEOW:HUgn0001007 (69%) |species == Human; gene == CDH12; score == 946; expect == 0.0; MEOW:HUgn0001010 (64%) |species == Mouse; gene == Cdh7; score == 918; expect == 0.0; MEOW:MGgn0041201 (64%) |species == Zfish; gene == cdh11; score == 478; expect == 2e-136; MEOW:ZFgn0000032 (51%) |species == Fruitfly; gene == CadN; score == 223; expect == 1.5e-58; MEOW:FBgn0015609 (29%) |species == Fruitfly; gene == fat2; score == 211; expect == 9.8e-55; MEOW:FBgn0036930 (29%) |species == Mosquito; score == 210; expect == 1.2e-54; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10132; score == 210; expect == 1.2e-54; MEOW:AGgn0010132 (28%) |species == Mosquito; gene == LOC10175; score == 210; expect == 1.2e-54; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 210; expect == 1.2e-54; MEOW:AGgn0010219 (28%) |species == Mosquito; gene == LOC10153; score == 209; expect == 1.3e-53; MEOW:AGgn0010153 (31%) |species == Mosquito; score == 206; expect == 2.3e-53; MEOW:AGgn0004696 (32%) |species == Mosquito; gene == LOC13129; score == 206; expect == 3.0e-53; MEOW:AGgn0013129 (31%) |species == Mosquito; score == 205; expect == 1.4e-52; MEOW:AGgn0004697 (32%) |species == Mosquito; gene == LOC13113; score == 205; expect == 1.8e-52; MEOW:AGgn0013113 (32%) |species == Fruitfly; gene == CadN2; score == 204; expect == 6.2e-52; MEOW:FBgn0032655 (31%) |species == Mosquito; gene == LOC1238; score == 200; expect == 1.6e-51; MEOW:AGgn0001238 (30%) |species == Fruitfly; gene == ds; score == 199; expect == 2.3e-51; MEOW:FBgn0000497 (29%) |species == Fruitfly; gene == stan; score == 188; expect == 6.8e-48; MEOW:FBgn0024836 (31%) |species == Fruitfly; gene == ft; score == 182; expect == 3.7e-46; MEOW:FBgn0001075 (30%) |species == Worm; gene == R10F2.1; score == 150; expect == 1.8e-36; MEOW:CEgn0014784 (29%) } # EOR GENR { RETE|ID 1 HUgn0001009 CHR 1 16 DID 1 LocusLink:1009 MAP 1 16q22.1 NAM 1 cadherin 11, type 2, OB-cadherin (osteoblast) ORG 1 Homo sapiens SYM 1 CDH11 ID|HUgn0001009 DID|LocusLink:1009 ORG|Homo sapiens RSQ|REFSEQ:NM_001797 |REFSEQ:NM_033664 RPA|REFPROT:NP_001788 |REFPROT:NP_387513 DBA|XM:NM_001797 |XM:NM_033664 |NA:AF060369 |NA:AF060370 |NA:BC013609 |NA:D21254 |NA:D21255 |NA:L34056 |NA:none PAC|XP:NP_001788 |XP:NP_387513 SYM|CDH11 NAM|cadherin 11, type 2, OB-cadherin (osteoblast) SYN|OB |CAD11 |CDHOB |OSF-4 FNC|cadherin 11, type 2 isoform 1 preproprotein |cadherin 11, type 2 isoform 2 preproprotein REAB|This gene encodes a type II classical cadherin from the cadherin superfamily, integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) |cadherins are defined based on their lack of a HAV cell adhesion recognition sequence |specific to type I cadherins. Expression of this particular cadherin in osteoblastic |cell lines, and its upregulation during differentiation, suggests a specific function |in bone development and maintenance. Two splice variants have been identified, one |of which encodes an isoform with a truncated cytoplasmic domain. CHR|16 PRD|OB-cadherin |cadherin-11 |osteoblast cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443435 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1009[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:512891 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033664 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033664 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443435 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26284 DBL|UNIGENE:Hs.443435 |OMIM:600023 |SNP:1009 MAP|16q22.1 HG|species == rat; score == 1521; expect == 0.0; MEOW:ref|XP_341640.1| (98%) |species == Mouse; gene == Cdh11; score == 1510; expect == 0.0; MEOW:MGgn0001237 (97%) |species == Human; gene == CDH8; score == 1013; expect == 0.0; MEOW:HUgn0001006 (69%) |species == Human; gene == CDH6; score == 887; expect == 0.0; MEOW:HUgn0001004 (59%) |species == Human; gene == CDH10; score == 868; expect == 0.0; MEOW:HUgn0001008 (60%) |species == Human; gene == CDH18; score == 868; expect == 0.0; MEOW:HUgn0001016 (59%) |species == Human; gene == CDH9; score == 867; expect == 0.0; MEOW:HUgn0001007 (58%) |species == Human; gene == CDH7; score == 866; expect == 0.0; MEOW:HUgn0001005 (58%) |species == Human; gene == CDH12; score == 854; expect == 0.0; MEOW:HUgn0001010 (58%) |species == Human; gene == CDH20; score == 834; expect == 0.0; MEOW:HUgn0028316 (59%) |species == Zfish; gene == cdh11; score == 701; expect == 0.0; MEOW:ZFgn0000032 (72%) |species == Mosquito; gene == LOC7517; score == 224; expect == 1.6e-58; MEOW:AGgn0007517 (30%) |species == Mosquito; gene == LOC10132; score == 218; expect == 5.9e-57; MEOW:AGgn0010132 (31%) |species == Mosquito; score == 217; expect == 1.3e-56; MEOW:AGgn0001731 (31%) |species == Mosquito; gene == LOC10175; score == 217; expect == 1.3e-56; MEOW:AGgn0010175 (31%) |species == Mosquito; score == 217; expect == 1.3e-56; MEOW:AGgn0010219 (31%) |species == Fruitfly; gene == CadN; score == 214; expect == 9.0e-56; MEOW:FBgn0015609 (31%) |species == Fruitfly; gene == stan; score == 214; expect == 1.2e-55; MEOW:FBgn0024836 (32%) |species == Fruitfly; gene == ds; score == 209; expect == 2.9e-54; MEOW:FBgn0000497 (27%) |species == Mosquito; gene == LOC14551; score == 208; expect == 6.1e-54; MEOW:AGgn0014551 (29%) |species == Fruitfly; gene == fat2; score == 207; expect == 1.4e-53; MEOW:FBgn0036930 (30%) |species == Mosquito; gene == LOC1238; score == 203; expect == 1.5e-52; MEOW:AGgn0001238 (31%) |species == Mosquito; gene == LOC10153; score == 201; expect == 5.7e-52; MEOW:AGgn0010153 (30%) |species == Fruitfly; gene == ft; score == 199; expect == 2.3e-51; MEOW:FBgn0001075 (31%) |species == Mosquito; gene == LOC13129; score == 193; expect == 2.0e-49; MEOW:AGgn0013129 (30%) |species == Mosquito; score == 191; expect == 5.9e-49; MEOW:AGgn0004697 (31%) |species == Fruitfly; gene == CadN2; score == 188; expect == 6.9e-48; MEOW:FBgn0032655 (29%) |species == Worm; gene == R10F2.1; score == 133; expect == 3.1e-31; MEOW:CEgn0014784 (26%) } # EOR GENR { RETE|ID 1 HUgn0001010 CHR 1 5 DID 1 LocusLink:1010 MAP 1 5p14-p13 NAM 1 cadherin 12, type 2 (N-cadherin 2) ORG 1 Homo sapiens SYM 1 CDH12 ID|HUgn0001010 DID|LocusLink:1010 ORG|Homo sapiens RSQ|REFSEQ:NM_004061 RPA|REFPROT:NP_004052 DBA|XM:NM_004061 |NA:Z16831 |NA:BC047608 |NA:L33477 |NA:L34057 |NA:none PAC|XP:NP_004052 SYM|CDH12 NAM|cadherin 12, type 2 (N-cadherin 2) SYN|CDHB FNC|cadherin 12, type 2 preproprotein REAB|This gene encodes a type II classical cadherin from the cadherin superfamily of integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) |cadherins are defined based on their lack of a HAV cell adhesion recognition sequence |specific to type I cadherins. This particular cadherin appears to be expressed specifically |in the brain and its temporal pattern of expression would be consistent with a role |during a critical period of neuronal development, perhaps specifically during synaptogenesis. CHR|5 PRD|Br-cadherin |cadherin-12 |N-cadherin 2 |brain-cadherin |neuronal cadherin 2 |cadherin, neural type, 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333997 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1010[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:596324 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004061 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004061 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=333997 DBL|UNIGENE:Hs.333997 |OMIM:600562 |SNP:1010 MAP|5p14-p13 HG|species == rat; score == 1278; expect == 0.0; MEOW:ref|XP_229369.2| (82%) |species == Human; gene == CDH6; score == 948; expect == 0.0; MEOW:HUgn0001004 (61%) |species == Human; gene == CDH10; score == 946; expect == 0.0; MEOW:HUgn0001008 (64%) |species == Mouse; gene == Cdh6; score == 928; expect == 0.0; MEOW:MGgn0001249 (60%) |species == Human; gene == CDH9; score == 913; expect == 0.0; MEOW:HUgn0001007 (57%) |species == Human; gene == CDH18; score == 898; expect == 0.0; MEOW:HUgn0001016 (60%) |species == Human; gene == CDH7; score == 897; expect == 0.0; MEOW:HUgn0001005 (60%) |species == Mouse; gene == Cdh7; score == 893; expect == 0.0; MEOW:MGgn0041201 (60%) |species == Human; gene == CDH11; score == 854; expect == 0.0; MEOW:HUgn0001009 (58%) |species == Mouse; gene == Cdh11; score == 854; expect == 0.0; MEOW:MGgn0001237 (58%) |species == Human; gene == CDH20; score == 850; expect == 0.0; MEOW:HUgn0028316 (58%) |species == Mouse; gene == Cdh20; score == 849; expect == 0.0; MEOW:MGgn0001250 (58%) |species == Human; gene == CDH8; score == 845; expect == 0.0; MEOW:HUgn0001006 (58%) |species == Mouse; gene == Cdh8; score == 845; expect == 0.0; MEOW:MGgn0001251 (58%) |species == Mouse; gene == Cdh22; score == 757; expect == 0.0; MEOW:MGgn0001245 (51%) |species == Zfish; gene == cdh11; score == 483; expect == 7e-138; MEOW:ZFgn0000032 (51%) |species == Fruitfly; gene == CadN; score == 223; expect == 1.9e-58; MEOW:FBgn0015609 (30%) |species == Mosquito; score == 222; expect == 4.1e-58; MEOW:AGgn0001731 (30%) |species == Mosquito; gene == LOC10132; score == 222; expect == 4.1e-58; MEOW:AGgn0010132 (30%) |species == Mosquito; gene == LOC10175; score == 222; expect == 4.1e-58; MEOW:AGgn0010175 (30%) |species == Mosquito; score == 222; expect == 4.1e-58; MEOW:AGgn0010219 (30%) |species == Mosquito; gene == LOC10153; score == 218; expect == 2.9e-56; MEOW:AGgn0010153 (31%) |species == Fruitfly; gene == stan; score == 218; expect == 4.7e-57; MEOW:FBgn0024836 (30%) |species == Mosquito; gene == LOC14551; score == 214; expect == 1.1e-55; MEOW:AGgn0014551 (31%) |species == Mosquito; score == 205; expect == 1.9e-52; MEOW:AGgn0004696 (32%) |species == Mosquito; gene == LOC13113; score == 205; expect == 1.4e-52; MEOW:AGgn0013113 (31%) |species == Mosquito; score == 203; expect == 1.5e-52; MEOW:AGgn0004697 (31%) |species == Mosquito; gene == LOC13129; score == 197; expect == 1.4e-50; MEOW:AGgn0013129 (30%) |species == Fruitfly; gene == fat2; score == 192; expect == 4.7e-49; MEOW:FBgn0036930 (29%) |species == Fruitfly; gene == ds; score == 190; expect == 1.8e-48; MEOW:FBgn0000497 (30%) |species == Fruitfly; gene == CadN2; score == 190; expect == 1.4e-48; MEOW:FBgn0032655 (30%) |species == Fruitfly; gene == ft; score == 188; expect == 5.2e-48; MEOW:FBgn0001075 (30%) |species == Worm; gene == R10F2.1; score == 143; expect == 3.0e-34; MEOW:CEgn0014784 (29%) } # EOR GENR { RETE|ID 1 HUgn0001011 CHR 1 5 DID 1 LocusLink:1011 MAP 1 5q13.1 NAM 1 cadherin 12 (N-cadherin 2) pseudogene ORG 1 Homo sapiens SYM 1 CDH12P ID|HUgn0001011 DID|LocusLink:1011 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC004999 SYM|CDH12P NAM|cadherin 12 (N-cadherin 2) pseudogene SYN|C41-CAD |c41-cad CHR|5 PRD|Br-cadherin pseudogene MAP|5q13.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:696362 } # EOR GENR { RETE|ID 1 HUgn0001012 CHR 1 16 DID 1 LocusLink:1012 MAP 1 16q24.2-q24.3 NAM 1 cadherin 13, H-cadherin (heart) ORG 1 Homo sapiens SYM 1 CDH13 ID|HUgn0001012 DID|LocusLink:1012 ORG|Homo sapiens RSQ|REFSEQ:NM_001257 RPA|REFPROT:NP_001248 DBA|XM:NM_001257 |NA:AB001090 |NA:AB001103 |NA:BC012615 |NA:BC028624 |NA:BC030653 |NA:L34058 |NA:U59288 |NA:none PAC|XP:NP_001248 SYM|CDH13 NAM|cadherin 13, H-cadherin (heart) SYN|CDHH FNC|cadherin 13 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a member of the cadherin superfamily. The encoded protein is a calcium |dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin |repeats, a transmembrane region but, unlike the typical cadherin superfamily member, |lacks the highly conserved cytoplasmic region. This particular cadherin is a putative |mediator of cell-cell interaction in the heart and may act as a negative regulator |of neural cell growth. The gene locus is hypermethylated or deleted in breast, ovarian |and lung cancers. Two major mRNA transcripts encoding identical proteins are found, |products of alternative polyadenylation sites. CHR|16 PRD|P105 |T-cad |H-cadherin |T-cadherin |heart-cadherin |truncated-cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=63984 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1012[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822917 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001257 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001257 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=63984 DBL|UNIGENE:Hs.63984 |OMIM:601364 |SNP:1012 MAP|16q24.2-q24.3 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|membrane ; GO:0016020 HG|species == rat; score == 1311; expect == 0.0; MEOW:ref|NP_620244.1| (95%) |species == Mouse; gene == Cdh13; score == 1305; expect == 0.0; MEOW:MGgn0001239 (94%) |species == Human; gene == CDH2; score == 514; expect == 6e-146; MEOW:HUgn0001000 (42%) |species == Zfish; gene == cdh2; score == 490; expect == 6e-140; MEOW:ZFgn0000469 (42%) |species == Human; gene == CDH4; score == 481; expect == 8e-136; MEOW:HUgn0001002 (39%) |species == Fruitfly; gene == CadN; score == 204; expect == 1.1e-52; MEOW:FBgn0015609 (28%) |species == Mosquito; score == 198; expect == 5.6e-51; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10175; score == 198; expect == 5.6e-51; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 198; expect == 5.6e-51; MEOW:AGgn0010219 (28%) |species == Mosquito; gene == LOC10132; score == 196; expect == 1.6e-50; MEOW:AGgn0010132 (28%) |species == Fruitfly; gene == stan; score == 181; expect == 9.7e-46; MEOW:FBgn0024836 (28%) |species == Mosquito; gene == LOC19477; score == 176; expect == 2.3e-44; MEOW:AGgn0019477 (26%) |species == Mosquito; gene == LOC7517; score == 172; expect == 4.3e-43; MEOW:AGgn0007517 (30%) |species == Fruitfly; gene == CadN2; score == 171; expect == 1.0e-42; MEOW:FBgn0032655 (30%) |species == Mosquito; gene == LOC10153; score == 169; expect == 3.6e-42; MEOW:AGgn0010153 (30%) |species == Mosquito; gene == LOC1238; score == 165; expect == 5.3e-41; MEOW:AGgn0001238 (28%) |species == Mosquito; gene == LOC13129; score == 165; expect == 4.0e-41; MEOW:AGgn0013129 (29%) |species == Mosquito; score == 162; expect == 2.6e-40; MEOW:AGgn0007226 (26%) } # EOR GENR { RETE|ID 1 HUgn0001013 CHR 1 16 DID 1 LocusLink:1013 MAP 1 16q24.3 NAM 1 cadherin 15, M-cadherin (myotubule) ORG 1 Homo sapiens SYM 1 CDH15 ID|HUgn0001013 DID|LocusLink:1013 ORG|Homo sapiens RSQ|REFSEQ:NM_004933 RPA|REFPROT:NP_004924 DBA|XM:NM_004933 |NA:AW452260 |NA:BC008951 |NA:D83542 |NA:none PAC|XP:NP_004924 SYM|CDH15 NAM|cadherin 15, M-cadherin (myotubule) SYN|CDH3 |CDHM |MCAD |CDH14 FNC|cadherin 15 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent |intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain |containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic |domain. Transcripts from this particular cadherin are expressed in myoblasts and |upregulated in myotubule-forming cells. The protein is thought to be essential for |the control of morphogenetic processes, specifically myogenesis, and may provide |a trigger for terminal muscle cell differentiation. CHR|16 PRD|M-cadherin |cadherin-3 |cadherin-14 |muscle-cadherin |myotubule-cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=148090 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1013[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:391031 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004933 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004933 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=148090 DBL|UNIGENE:Hs.148090 |OMIM:114019 |SNP:1013 MAP|16q24.3 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == rat; score == 1204; expect == 0.0; MEOW:ref|XP_341711.1| (81%) |species == Mouse; gene == Cdh15; score == 1201; expect == 0.0; MEOW:MGgn0001241 (86%) |species == Zfish; gene == cdh2; score == 562; expect == 2e-161; MEOW:ZFgn0000469 (43%) |species == Human; gene == CDH4; score == 552; expect == 4e-157; MEOW:HUgn0001002 (43%) |species == Human; gene == CDH2; score == 543; expect == 1e-154; MEOW:HUgn0001000 (42%) |species == Human; gene == CDH3; score == 453; expect == 2e-127; MEOW:HUgn0001001 (38%) |species == Human; gene == CDH1; score == 444; expect == 7e-125; MEOW:HUgn0000999 (39%) |species == Mosquito; gene == LOC10132; score == 157; expect == 1.7e-38; MEOW:AGgn0010132 (28%) |species == Fruitfly; gene == CadN; score == 156; expect == 3.9e-38; MEOW:FBgn0015609 (28%) |species == Mosquito; score == 155; expect == 6.3e-38; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10175; score == 155; expect == 6.3e-38; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 155; expect == 6.3e-38; MEOW:AGgn0010219 (28%) |species == Mosquito; score == 153; expect == 2.4e-37; MEOW:AGgn0007226 (27%) |species == Mosquito; gene == LOC10153; score == 143; expect == 2.5e-34; MEOW:AGgn0010153 (27%) |species == Fruitfly; gene == ft; score == 140; expect == 1.7e-33; MEOW:FBgn0001075 (25%) |species == Mosquito; gene == LOC14551; score == 136; expect == 3.0e-32; MEOW:AGgn0014551 (28%) |species == Fruitfly; gene == stan; score == 132; expect == 6.0e-31; MEOW:FBgn0024836 (27%) } # EOR GENR { RETE|ID 1 HUgn0001014 CHR 1 16 DID 1 LocusLink:1014 MAP 1 16q22.1 NAM 1 cadherin 16, KSP-cadherin ORG 1 Homo sapiens SYM 1 CDH16 ID|HUgn0001014 DID|LocusLink:1014 ORG|Homo sapiens RSQ|REFSEQ:NM_004062 RPA|REFPROT:NP_004053 DBA|XM:NM_004062 |NA:AF016272 |NA:AI733140 |NA:AK075243 |NA:AY358911 |NA:BC027912 |NA:BI759247 |NA:none PAC|XP:NP_004053 SYM|CDH16 NAM|cadherin 16, KSP-cadherin FNC|cadherin 16 precursor |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, |membrane-associated glycoproteins. Mapped to a previously identified cluster of |cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members |CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain |containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic |domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence |typical of most classical cadherins. Expression is exclusively in kidney, where |the protein functions as the principal mediator of homotypic cellular recognition, |playing a role in the morphogenic direction of tissue development. CHR|16 PRD|KSP-cadherin |kidney-specific cadherin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115418 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1014[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822919 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004062 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004062 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115418 DBL|UNIGENE:Hs.115418 |OMIM:603118 |SNP:1014 MAP|16q22.1 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cdh16; score == 1296; expect == 0.0; MEOW:MGgn0001242 (77%) |species == rat; score == 880; expect == 0.0; MEOW:ref|XP_226203.2| (77%) |species == Human; gene == CDH17; score == 336; expect == 3.7e-92; MEOW:HUgn0001015 (30%) |species == Zfish; gene == cdh2; score == 156; expect == 2.6e-39; MEOW:ZFgn0000469 (24%) } # EOR GENR { RETE|ID 1 HUgn0001015 CHR 1 8 DID 1 LocusLink:1015 MAP 1 8q22.1 NAM 1 cadherin 17, LI cadherin (liver-intestine) ORG 1 Homo sapiens SYM 1 CDH17 ID|HUgn0001015 DID|LocusLink:1015 ORG|Homo sapiens RSQ|REFSEQ:NM_004063 RPA|REFPROT:NP_004054 DBA|XM:NM_004063 |NA:AI566493 |NA:AU098586 |NA:U07969 |NA:X83228 |NA:none PAC|XP:NP_004054 SYM|CDH17 NAM|cadherin 17, LI cadherin (liver-intestine) SYN|HPT1 |CDH16 |HPT-1 FNC|cadherin 17 precursor |transport ; GO:0006810 |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, |membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting |of an extracellular region, containing 7 cadherin domains, and a transmembrane region |but lacking the conserved cytoplasmic domain. The protein is a component of the |gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent |peptide transporter in the first step in oral absorption of many medically important |peptide-based drugs. The protein may also play a role in the morphological organization |of liver and intestine. CHR|8 PRD|LI cadherin |cadherin-16 |HPT-1 cadherin |liver-intestine cadherin |human peptide transporter 1 |human intestinal peptide-associated transporter HPT-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89436 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1015[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5822918 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004063 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004063 DBL|UNIGENE:Hs.89436 |OMIM:603017 |SNP:1015 MAP|8q22.1 ENZ|transporter activity ; GO:0005215 |calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1299; expect == 0.0; MEOW:ref|NP_446429.1| (79%) |species == Mouse; gene == Cdh17; score == 1287; expect == 0.0; MEOW:MGgn0001243 (79%) |species == Human; gene == CDH16; score == 336; expect == 3.7e-92; MEOW:HUgn0001014 (30%) |species == Zfish; gene == cdh2; score == 246; expect == 1.9e-66; MEOW:ZFgn0000469 (31%) |species == Fruitfly; gene == stan; score == 197; expect == 1.2e-50; MEOW:FBgn0024836 (30%) |species == Fruitfly; gene == fat2; score == 193; expect == 2.2e-49; MEOW:FBgn0036930 (26%) |species == Mosquito; gene == LOC1238; score == 183; expect == 2.9e-46; MEOW:AGgn0001238 (27%) |species == Fruitfly; gene == ds; score == 183; expect == 3.0e-46; MEOW:FBgn0000497 (27%) |species == Mosquito; gene == LOC10132; score == 170; expect == 1.9e-42; MEOW:AGgn0010132 (26%) |species == Fruitfly; gene == ft; score == 170; expect == 2.0e-42; MEOW:FBgn0001075 (24%) |species == Fruitfly; gene == CadN; score == 169; expect == 3.5e-42; MEOW:FBgn0015609 (26%) |species == Mosquito; score == 166; expect == 2.8e-41; MEOW:AGgn0001731 (26%) |species == Mosquito; gene == LOC10175; score == 166; expect == 2.8e-41; MEOW:AGgn0010175 (26%) |species == Mosquito; score == 166; expect == 2.8e-41; MEOW:AGgn0010219 (26%) |species == Mosquito; score == 162; expect == 3.1e-40; MEOW:AGgn0007226 (25%) |species == Mosquito; gene == LOC14551; score == 161; expect == 9.0e-40; MEOW:AGgn0014551 (25%) |species == Mosquito; gene == LOC9993; score == 159; expect == 2.6e-39; MEOW:AGgn0009993 (25%) |species == Worm; gene == R10F2.1; score == 134; expect == 1.1e-31; MEOW:CEgn0014784 (26%) } # EOR GENR { RETE|ID 1 HUgn0001016 CHR 1 5 DID 1 LocusLink:1016 MAP 1 5p15.2-p15.1 NAM 1 cadherin 18, type 2 ORG 1 Homo sapiens SYM 1 CDH18 ID|HUgn0001016 DID|LocusLink:1016 ORG|Homo sapiens RSQ|REFSEQ:NM_004934 RPA|REFPROT:NP_004925 DBA|XM:NM_004934 |NA:BC031051 |NA:BI549773 |NA:U59325 |NA:none PAC|XP:NP_004925 SYM|CDH18 NAM|cadherin 18, type 2 SYN|CDH14 |CDH24 |CDH14L |EY-CADHERIN FNC|cadherin 18, type 2 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|This gene encodes a type II classical cadherin from the cadherin superfamily of integral |membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin |proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning |domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) |cadherins are defined based on their lack of a HAV cell adhesion recognition sequence |specific to type I cadherins. This particular cadherin is expressed specifically |in the central nervous system and is putatively involved in synaptic adhesion, axon |outgrowth and guidance. CHR|5 PRD|cadherin-14 |cadherin-18 |cadherin-like 24 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57691 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1016[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6277917 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004934 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004934 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=57691 DBL|UNIGENE:Hs.57691 |OMIM:603019 |SNP:1016 MAP|5p15.2-p15.1 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1274; expect == 0.0; MEOW:ref|XP_226899.2| (94%) |species == Human; gene == CDH12; score == 898; expect == 0.0; MEOW:HUgn0001010 (60%) |species == Human; gene == CDH10; score == 890; expect == 0.0; MEOW:HUgn0001008 (61%) |species == Human; gene == CDH9; score == 884; expect == 0.0; MEOW:HUgn0001007 (60%) |species == Human; gene == CDH6; score == 880; expect == 0.0; MEOW:HUgn0001004 (59%) |species == Human; gene == CDH11; score == 868; expect == 0.0; MEOW:HUgn0001009 (59%) |species == Mouse; gene == Cdh6; score == 867; expect == 0.0; MEOW:MGgn0001249 (59%) |species == Mouse; gene == Cdh11; score == 864; expect == 0.0; MEOW:MGgn0001237 (59%) |species == Human; gene == CDH7; score == 860; expect == 0.0; MEOW:HUgn0001005 (64%) |species == Mouse; gene == Cdh7; score == 859; expect == 0.0; MEOW:MGgn0041201 (64%) |species == Mouse; gene == Cdh20; score == 816; expect == 0.0; MEOW:MGgn0001250 (59%) |species == Human; gene == CDH20; score == 814; expect == 0.0; MEOW:HUgn0028316 (59%) |species == Human; gene == CDH8; score == 808; expect == 0.0; MEOW:HUgn0001006 (59%) |species == Mouse; gene == Cdh8; score == 804; expect == 0.0; MEOW:MGgn0001251 (59%) |species == Human; gene == CDH22; score == 728; expect == 0.0; MEOW:HUgn0064405 (53%) |species == Mouse; gene == Cdh22; score == 727; expect == 0.0; MEOW:MGgn0001245 (54%) |species == Zfish; gene == cdh11; score == 482; expect == 2e-136; MEOW:ZFgn0000032 (52%) |species == Mosquito; gene == LOC7517; score == 244; expect == 1.1e-64; MEOW:AGgn0007517 (30%) |species == Mosquito; gene == LOC14551; score == 219; expect == 3.4e-57; MEOW:AGgn0014551 (32%) |species == Fruitfly; gene == fat2; score == 196; expect == 2.5e-50; MEOW:FBgn0036930 (31%) |species == Fruitfly; gene == CadN; score == 187; expect == 1.2e-47; MEOW:FBgn0015609 (30%) |species == Fruitfly; gene == stan; score == 187; expect == 1.5e-47; MEOW:FBgn0024836 (35%) |species == Fruitfly; gene == ft; score == 179; expect == 3.2e-45; MEOW:FBgn0001075 (35%) |species == Fruitfly; gene == ds; score == 164; expect == 1.4e-40; MEOW:FBgn0000497 (32%) |species == Fruitfly; gene == shg; score == 164; expect == 1.1e-40; MEOW:FBgn0003391 (30%) |species == Worm; gene == R10F2.1; score == 143; expect == 3.0e-34; MEOW:CEgn0014784 (30%) } # EOR GENR { RETE|ID 1 HUgn0001017 CHR 1 12 DID 1 LocusLink:1017 MAP 1 12q13 NAM 1 cyclin-dependent kinase 2 ORG 1 Homo sapiens SYM 1 CDK2 ID|HUgn0001017 DID|LocusLink:1017 ORG|Homo sapiens RSQ|REFSEQ:NM_001798 |REFSEQ:NM_052827 RPA|REFPROT:NP_001789 |REFPROT:NP_439892 DBA|XM:NM_001798 |XM:NM_052827 |NA:U50730 |NA:AB012305 |NA:BC003065 |NA:M68520 |NA:X61622 |NA:X62071 PAC|XP:NP_001789 |XP:NP_439892 SYM|CDK2 NAM|cyclin-dependent kinase 2 SYN|p33(CDK2) FNC|cyclin-dependent kinase 2 isoform 1 |cyclin-dependent kinase 2 isoform 2 |regulation of DNA replication ; GO:0006275 |G2/M transition of mitotic cell cycle ; GO:0000086 |positive regulation of cell proliferation ; GO:0008284 |start control point of mitotic cell cycle ; GO:0007089 |oncogenesis ; GO:0007048 REAB|The protein encoded by this gene is a member of the Ser/Thr protein kinase family. |This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, |and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase |complex, whose activity is restricted to the G1-S phase, and essential for cell |cycle G1/S phase transition. This protein associates with and regulated by the regulatory |subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) |and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. |Two alternatively spliced variants and multiple transcription initiation sites of |this gene have been reported. CHR|12 PRD|p33 protein kinase |cell devision kinase 2 |cdc2-related protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19192 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1017[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128984 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001798 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001798 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19192 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.19192 |OMIM:116953 |SNP:1017 ENZ|EC:2.7.1.- |cyclin-dependent protein kinase activity ; GO:0004693 |protein kinase activity ; GO:0004672 MAP|12q13 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cdk2; score == 600; expect == 1e-172; MEOW:MGgn0001253 (98%) |species == rat; score == 564; expect == 2e-161; MEOW:ref|XP_343146.1| (79%) |species == Human; gene == CDK3; score == 467; expect == 3e-132; MEOW:HUgn0001018 (76%) |species == rice; score == 412; expect == 2e-115; MEOW:gnl|TIGR|8360.m00166 (68%) |species == Weed; gene == At3g48750; score == 411; expect == 3e-115; MEOW:ATgn0014902 (68%) |species == rice; score == 403; expect == 1e-112; MEOW:gnl|TIGR|8360.m00082 (67%) |species == Human; gene == CDC2; score == 397; expect == 5e-111; MEOW:HUgn0000983 (66%) |species == Fruitfly; gene == cdc2c; score == 394; expect == 1e-110; MEOW:FBgn0004107 (64%) |species == rice; score == 393; expect == 2e-109; MEOW:gnl|TIGR|8351.m00207 (65%) |species == Mosquito; gene == LOC18666; score == 389; expect == 1e-108; MEOW:AGgn0018666 (66%) |species == Yeast; gene == CDC28; score == 383; expect == 2e-107; MEOW:SGgn0000364 (62%) |species == Fruitfly; gene == cdc2; score == 382; expect == 1e-106; MEOW:FBgn0004106 (64%) |species == Worm; gene == cdk-1; score == 369; expect == 1e-102; MEOW:CEgn0027648 (60%) |species == Mosquito; score == 362; expect == 1e-100; MEOW:AGgn0026698 (60%) |species == Fruitfly; gene == Cdk5; score == 345; expect == 1.3e-95; MEOW:FBgn0013762 (59%) |species == Weed; gene == At2g38620; score == 343; expect == 8.5e-95; MEOW:ATgn0009362 (56%) |species == Zfish; gene == cdk5; score == 342; expect == 1.1e-94; MEOW:ZFgn0002016 (58%) |species == Mosquito; gene == LOC18692; score == 340; expect == 2.4e-94; MEOW:AGgn0018692 (58%) |species == Worm; gene == cdk-5; score == 339; expect == 1.2e-93; MEOW:CEgn0000150 (58%) |species == Weed; gene == At1g20930; score == 335; expect == 1.4e-92; MEOW:ATgn0003708 (56%) |species == Yeast; gene == PHO85; score == 334; expect == 1.5e-92; MEOW:SGgn0005952 (56%) |species == Weed; gene == At1g76540; score == 333; expect == 8.8e-92; MEOW:ATgn0002764 (55%) |species == Weed; gene == At3g54180; score == 329; expect == 1.0e-90; MEOW:ATgn0013356 (56%) |species == chimp; score == 200; expect == 1.8e-53; MEOW:sp|Q9N272|MK13_PANTR (39%) |species == chimp; score == 184; expect == 1.3e-48; MEOW:sp|Q95NE7|MK14_PANTR (37%) } # EOR GENR { RETE|ID 1 HUgn0001018 CHR 1 17 DID 1 LocusLink:1018 MAP 1 17q22-qter NAM 1 cyclin-dependent kinase 3 ORG 1 Homo sapiens SYM 1 CDK3 ID|HUgn0001018 DID|LocusLink:1018 ORG|Homo sapiens RSQ|REFSEQ:NM_001258 RPA|REFPROT:NP_001249 DBA|XM:NM_001258 |NA:AK097104 |NA:BX647274 |NA:X66357 |NA:none PAC|XP:NP_001249 SYM|CDK3 NAM|cyclin-dependent kinase 3 FNC|cyclin-dependent kinase 3 |mitosis ; GO:0007067 |protein amino acid phosphorylation ; GO:0006468 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|CDK3 complements cdc28 mutants of Saccharomyces cerevisiae suggesting that it may |be involved in cell cycle control. CDK3 can phosphorylate histone H1 and interacts |with an unknown type of cyclin. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=100009 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1018[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:283456 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001258 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001258 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.100009 |OMIM:123828 |SNP:1018 MAP|17q22-qter ENZ|cyclin-dependent protein kinase activity ; GO:0004693 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 HG|species == Human; gene == CDK2; score == 467; expect == 3e-132; MEOW:HUgn0001017 (76%) |species == Mouse; gene == Cdk2; score == 467; expect == 2e-132; MEOW:MGgn0001253 (76%) |species == rat; score == 431; expect == 3e-121; MEOW:ref|XP_343146.1| (61%) |species == Weed; gene == At3g48750; score == 423; expect == 5e-119; MEOW:ATgn0014902 (69%) |species == rice; score == 408; expect == 2e-114; MEOW:gnl|TIGR|8360.m00166 (67%) |species == rice; score == 402; expect == 1e-112; MEOW:gnl|TIGR|8360.m00082 (66%) |species == Human; gene == CDC2; score == 399; expect == 1e-111; MEOW:HUgn0000983 (67%) |species == rat; score == 399; expect == 8e-112; MEOW:ref|NP_062169.1| (67%) |species == Mouse; gene == Cdc2a; score == 397; expect == 2e-111; MEOW:MGgn0001218 (67%) |species == rice; score == 397; expect == 1e-110; MEOW:gnl|TIGR|8351.m00207 (64%) |species == Mosquito; gene == LOC18666; score == 396; expect == 5e-111; MEOW:AGgn0018666 (65%) |species == Fruitfly; gene == cdc2; score == 392; expect == 6e-110; MEOW:FBgn0004106 (65%) |species == Fruitfly; gene == cdc2c; score == 386; expect == 4e-108; MEOW:FBgn0004107 (65%) |species == Yeast; gene == CDC28; score == 386; expect == 2e-108; MEOW:SGgn0000364 (64%) |species == Worm; gene == cdk-1; score == 375; expect == 1e-104; MEOW:CEgn0027648 (63%) |species == rat; score == 360; expect == 5e-100; MEOW:ref|NP_543161.1| (61%) |species == Fruitfly; gene == Cdk5; score == 353; expect == 3.8e-98; MEOW:FBgn0013762 (58%) |species == Mosquito; gene == LOC18692; score == 352; expect == 1.0e-97; MEOW:AGgn0018692 (59%) |species == Zfish; gene == cdk5; score == 352; expect == 1.4e-97; MEOW:ZFgn0002016 (59%) |species == Mosquito; score == 350; expect == 4.1e-97; MEOW:AGgn0026698 (58%) |species == Weed; gene == At2g38620; score == 345; expect == 1.8e-95; MEOW:ATgn0009362 (57%) |species == Worm; gene == cdk-5; score == 338; expect == 2.0e-93; MEOW:CEgn0000150 (58%) |species == Yeast; gene == PHO85; score == 326; expect == 2.4e-90; MEOW:SGgn0005952 (54%) |species == Worm; gene == K03E5.3a; score == 305; expect == 1.1e-83; MEOW:CEgn0032267 (50%) |species == chimp; score == 204; expect == 1.2e-54; MEOW:sp|Q9N272|MK13_PANTR (39%) |species == chimp; score == 184; expect == 7.8e-49; MEOW:sp|Q95NE7|MK14_PANTR (36%) } # EOR GENR { RETE|ID 1 HUgn0001019 CHR 1 12 DID 1 LocusLink:1019 MAP 1 12q14 NAM 1 cyclin-dependent kinase 4 ORG 1 Homo sapiens SYM 1 CDK4 ID|HUgn0001019 DID|LocusLink:1019 ORG|Homo sapiens RSQ|REFSEQ:NM_000075 |REFSEQ:NM_052984 RPA|REFPROT:NP_000066 |REFPROT:NP_443710 DBA|XM:NM_000075 |XM:NM_052984 |NA:U37022 |NA:U81031 |NA:BC003644 |NA:BC005864 |NA:BC010153 |NA:BC015669 |NA:M14505 |NA:U79269 |NA:Z48970 PAC|XP:NP_000066 |XP:NP_443710 SYM|CDK4 NAM|cyclin-dependent kinase 4 SYN|CMM3 |PSK-J3 |MGC14458 FNC|cyclin-dependent kinase 4 isoform 1 |cyclin-dependent kinase 4 isoform 2 |G1/S transition of mitotic cell cycle ; GO:0000082 |cell proliferation ; GO:0008283 |oncogenesis ; GO:0007048 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene is a member of the Ser/Thr protein kinase family. |This protein is highly similar to the gene products of S. cerevisiae cdc28, and |S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important |for cell cycle G1 phase progression. The activity of this kinase is restricted to |the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and |CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation |of retinoblastoma gene product (Rb). The mutations in this gene as well as its related |proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated |with tumorigenesis of a variety of cancers. Two alternatively spliced variants, |and multiple polyadenylation sites of this gene have been reported. CHR|12 PRD|cell division kinase 4 |melanoma cutaneous malignant, 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=95577 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1019[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:204022 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000075 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000075 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=95577 |http://www.geneclinics.org/query?mim=123829 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.95577 |OMIM:123829 |SNP:1019 |UWCM:204022.html ENZ|EC:2.7.1.- |cyclin-dependent protein kinase activity ; GO:0004693 MAP|12q14 PHP|Melanoma HG|species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_446045.1| (95%) |species == Mouse; gene == Cdk4; score == 559; expect == 6e-160; MEOW:MGgn0001254 (94%) |species == Human; gene == CDK6; score == 419; expect == 1e-117; MEOW:HUgn0001021 (71%) |species == rat; score == 417; expect == 6e-117; MEOW:ref|XP_342639.1| (70%) |species == Mosquito; gene == LOC10338; score == 295; expect == 1.7e-80; MEOW:AGgn0010338 (50%) |species == Fruitfly; gene == Cdk4; score == 276; expect == 1.1e-74; MEOW:FBgn0016131 (47%) |species == Worm; gene == cdk-4; score == 233; expect == 1.9e-61; MEOW:CEgn0000149 (42%) |species == Weed; gene == At3g48750; score == 226; expect == 1.6e-59; MEOW:ATgn0014902 (44%) |species == rice; score == 226; expect == 3.4e-59; MEOW:gnl|TIGR|8351.m00207 (44%) |species == rice; score == 226; expect == 3.4e-59; MEOW:gnl|TIGR|8360.m00166 (43%) |species == rice; score == 225; expect == 4.4e-59; MEOW:gnl|TIGR|8360.m00082 (44%) |species == Worm; gene == cdk-5; score == 219; expect == 1.3e-57; MEOW:CEgn0000150 (45%) |species == Zfish; gene == cdk5; score == 214; expect == 1.9e-57; MEOW:ZFgn0002016 (43%) |species == Weed; gene == At1g20930; score == 213; expect == 1.0e-55; MEOW:ATgn0003708 (42%) |species == Weed; gene == At1g76540; score == 210; expect == 6.8e-55; MEOW:ATgn0002764 (42%) |species == Yeast; gene == CDC28; score == 208; expect == 9.6e-55; MEOW:SGgn0000364 (42%) |species == Yeast; gene == PHO85; score == 198; expect == 9.9e-52; MEOW:SGgn0005952 (40%) |species == rice; score == 198; expect == 9.9e-51; MEOW:gnl|TIGR|8353.m02815 (40%) |species == Weed; gene == At2g38620; score == 196; expect == 1.0e-50; MEOW:ATgn0009362 (40%) |species == Weed; gene == CDKC;1; score == 196; expect == 1.7e-50; MEOW:ATgn0022868 (38%) |species == Weed; gene == At5g63370; score == 196; expect == 1.3e-50; MEOW:ATgn0023248 (38%) |species == Weed; gene == CDKC;2; score == 196; expect == 1.0e-50; MEOW:ATgn0024770 (38%) |species == Worm; gene == B0285.1; score == 195; expect == 2.0e-50; MEOW:CEgn0003336 (40%) |species == rice; score == 195; expect == 6.4e-50; MEOW:gnl|TIGR|8352.m03766 (37%) |species == Weed; gene == At3g54180; score == 194; expect == 3.8e-50; MEOW:ATgn0013356 (42%) |species == rice; score == 190; expect == 2.1e-48; MEOW:gnl|TIGR|8351.m03668 (37%) |species == Weed; gene == At1g67580; score == 188; expect == 4.7e-48; MEOW:ATgn0006313 (36%) |species == Worm; gene == pct-1; score == 188; expect == 1.9e-48; MEOW:CEgn0029193 (40%) |species == Worm; gene == cdk-1; score == 187; expect == 4.2e-48; MEOW:CEgn0027648 (38%) |species == Yeast; gene == CTK1; score == 179; expect == 6.2e-46; MEOW:SGgn0001622 (35%) |species == chimp; score == 142; expect == 5.8e-36; MEOW:sp|Q95NE7|MK14_PANTR (34%) |species == chimp; score == 139; expect == 4.9e-35; MEOW:sp|Q9N272|MK13_PANTR (35%) } # EOR GENR { RETE|ID 1 HUgn0001020 CHR 1 7 DID 1 LocusLink:1020 MAP 1 7q36 NAM 1 cyclin-dependent kinase 5 ORG 1 Homo sapiens SYM 1 CDK5 ID|HUgn0001020 DID|LocusLink:1020 ORG|Homo sapiens RSQ|REFSEQ:NM_004935 RPA|REFPROT:NP_004926 DBA|XM:NM_004935 |XM:NM_004935 |NA:AK026533 |NA:BC005115 |NA:BU527089 |NA:CA429180 |NA:L04658 |NA:X66364 |NA:none PAC|XP:NP_004926 |XP:NP_004926 SYM|CDK5 NAM|cyclin-dependent kinase 5 SYN|PSSALRE FNC|cyclin-dependent kinase 5 |cell cycle ; GO:0007049 |protein amino acid phosphorylation ; GO:0006468 |cytokinesis ; GO:0000910 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166071 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1020[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:204023 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004935 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004935 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=166071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.166071 |OMIM:123831 |SNP:1020 ENZ|EC:2.7.1.- |cyclin-dependent protein kinase activity ; GO:0004693 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|7q36 HG|species == Mouse; gene == Cdk5; score == 602; expect == 5e-173; MEOW:MGgn0001255 (99%) |species == rat; score == 600; expect == 4e-172; MEOW:ref|NP_543161.1| (99%) |species == Zfish; gene == cdk5; score == 587; expect == 1e-169; MEOW:ZFgn0002016 (96%) |species == Mosquito; gene == LOC18692; score == 510; expect == 2e-145; MEOW:AGgn0018692 (83%) |species == Fruitfly; gene == Cdk5; score == 474; expect == 1e-134; MEOW:FBgn0013762 (79%) |species == Worm; gene == cdk-5; score == 463; expect == 3e-131; MEOW:CEgn0000150 (74%) |species == Human; gene == CDK3; score == 362; expect == 2e-100; MEOW:HUgn0001018 (61%) |species == Human; gene == CDK2; score == 350; expect == 5.1e-97; MEOW:HUgn0001017 (59%) |species == rice; score == 350; expect == 1.5e-96; MEOW:gnl|TIGR|8351.m00207 (58%) |species == rice; score == 350; expect == 1.5e-96; MEOW:gnl|TIGR|8360.m00082 (58%) |species == rice; score == 349; expect == 1.7e-96; MEOW:gnl|TIGR|8360.m00166 (58%) |species == Human; gene == PCTK1; score == 339; expect == 1.2e-93; MEOW:HUgn0005127 (57%) |species == Human; gene == PCTK2; score == 337; expect == 1.3e-92; MEOW:HUgn0005128 (55%) |species == Weed; gene == At3g48750; score == 335; expect == 1.7e-92; MEOW:ATgn0014902 (56%) |species == Human; gene == PCTK3; score == 329; expect == 1.2e-90; MEOW:HUgn0005129 (56%) |species == Yeast; gene == CDC28; score == 327; expect == 1.3e-90; MEOW:SGgn0000364 (55%) |species == Yeast; gene == PHO85; score == 327; expect == 1.0e-90; MEOW:SGgn0005952 (55%) |species == Human; gene == CDC2; score == 326; expect == 8.0e-90; MEOW:HUgn0000983 (57%) |species == Human; gene == PFTK1; score == 305; expect == 1.9e-83; MEOW:HUgn0005218 (54%) |species == Weed; gene == At2g38620; score == 292; expect == 1.3e-79; MEOW:ATgn0009362 (52%) |species == Weed; gene == At3g54180; score == 290; expect == 8.3e-79; MEOW:ATgn0013356 (51%) |species == Weed; gene == At1g20930; score == 287; expect == 7.0e-78; MEOW:ATgn0003708 (51%) |species == Weed; gene == At1g76540; score == 282; expect == 2.3e-76; MEOW:ATgn0002764 (48%) |species == Weed; gene == At1g73690; score == 271; expect == 3.1e-73; MEOW:ATgn0007002 (49%) |species == Weed; gene == At1g18040; score == 268; expect == 2.6e-72; MEOW:ATgn0006685 (47%) |species == chimp; score == 170; expect == 1.9e-44; MEOW:sp|Q9N272|MK13_PANTR (35%) |species == chimp; score == 165; expect == 6.1e-43; MEOW:sp|Q95NE7|MK14_PANTR (34%) } # EOR GENR { RETE|ID 1 HUgn0001021 CHR 1 7 DID 1 LocusLink:1021 MAP 1 7q21-q22 NAM 1 cyclin-dependent kinase 6 ORG 1 Homo sapiens SYM 1 CDK6 ID|HUgn0001021 DID|LocusLink:1021 ORG|Homo sapiens RSQ|REFSEQ:NM_001259 RPA|REFPROT:NP_001250 DBA|XM:NM_001259 |XM:NM_001259 |NA:AC000065 |NA:AC004011 |NA:BC052264 |NA:X66365 |NA:none PAC|XP:NP_001250 |XP:NP_001250 SYM|CDK6 NAM|cyclin-dependent kinase 6 SYN|PLSTIRE FNC|cyclin-dependent kinase 6 |G1 phase of mitotic cell cycle ; GO:0000080 |protein amino acid phosphorylation ; GO:0006468 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene is a member of the cyclin-dependent protein kinase |(CDK) family. CDK family members are highly similar to the gene products of Saccharomyces |cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important |regulators of cell cycle progression. This kinase is a catalytic subunit of the |protein kinase complex that is important for cell cycle G1 phase progression and |G1/S transition. The activity of this kinase first appears in mid-G1 phase, which |is controlled by the regulatory subunits including D-type cyclins and members of |INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, |and thus regulate the activity of, tumor suppressor protein Rb. CHR|7 PRD|cell division protein kinase 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=38481 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1021[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:283458 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001259 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001259 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=38481 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.38481 |OMIM:603368 |SNP:1021 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|7q21-q22 HG|species == Mouse; gene == Cdk6; score == 632; expect == 0.0; MEOW:MGgn0001258 (96%) |species == rat; score == 631; expect == 0.0; MEOW:ref|XP_342639.1| (96%) |species == Human; gene == CDK4; score == 419; expect == 1e-117; MEOW:HUgn0001019 (71%) |species == Mosquito; gene == LOC10338; score == 310; expect == 5.1e-85; MEOW:AGgn0010338 (51%) |species == Fruitfly; gene == Cdk4; score == 278; expect == 1.7e-75; MEOW:FBgn0016131 (46%) |species == rice; score == 264; expect == 9.5e-71; MEOW:gnl|TIGR|8360.m00166 (48%) |species == rice; score == 263; expect == 2.8e-70; MEOW:gnl|TIGR|8360.m00082 (48%) |species == Weed; gene == At3g48750; score == 262; expect == 1.4e-70; MEOW:ATgn0014902 (48%) |species == Yeast; gene == CDC28; score == 252; expect == 6.4e-68; MEOW:SGgn0000364 (45%) |species == rice; score == 251; expect == 6.4e-67; MEOW:gnl|TIGR|8351.m00207 (45%) |species == Mosquito; gene == LOC18666; score == 250; expect == 3.7e-67; MEOW:AGgn0018666 (43%) |species == Worm; gene == cdk-5; score == 244; expect == 3.2e-65; MEOW:CEgn0000150 (46%) |species == Weed; gene == At1g76540; score == 243; expect == 1.3e-64; MEOW:ATgn0002764 (44%) |species == Weed; gene == At1g20930; score == 239; expect == 1.5e-63; MEOW:ATgn0003708 (44%) |species == Fruitfly; gene == cdc2; score == 236; expect == 5.7e-63; MEOW:FBgn0004106 (41%) |species == Fruitfly; gene == Cdk5; score == 236; expect == 5.7e-63; MEOW:FBgn0013762 (46%) |species == Zfish; gene == cdk5; score == 235; expect == 1.5e-63; MEOW:ZFgn0002016 (45%) |species == Worm; gene == cdk-4; score == 234; expect == 3.3e-62; MEOW:CEgn0000149 (40%) |species == Weed; gene == At2g38620; score == 229; expect == 1.6e-60; MEOW:ATgn0009362 (43%) |species == Weed; gene == At3g54180; score == 229; expect == 2.0e-60; MEOW:ATgn0013356 (44%) |species == Fruitfly; gene == cdc2c; score == 225; expect == 1.3e-59; MEOW:FBgn0004107 (42%) |species == Worm; gene == cdk-1; score == 221; expect == 2.2e-58; MEOW:CEgn0027648 (40%) |species == rice; score == 218; expect == 7.8e-57; MEOW:gnl|TIGR|8352.m03766 (39%) |species == Yeast; gene == PHO85; score == 216; expect == 3.9e-57; MEOW:SGgn0005952 (40%) |species == rice; score == 216; expect == 2.3e-56; MEOW:gnl|TIGR|8351.m03668 (40%) |species == rice; score == 214; expect == 1.5e-55; MEOW:gnl|TIGR|8353.m02815 (41%) |species == Worm; gene == K03E5.3a; score == 212; expect == 1.8e-55; MEOW:CEgn0032267 (40%) |species == Weed; gene == At1g67580; score == 211; expect == 5.7e-55; MEOW:ATgn0006313 (38%) |species == Weed; gene == CDKC;1; score == 211; expect == 4.4e-55; MEOW:ATgn0022868 (40%) |species == Weed; gene == CDKC;2; score == 210; expect == 7.5e-55; MEOW:ATgn0024770 (39%) |species == Worm; gene == pct-1; score == 209; expect == 8.8e-55; MEOW:CEgn0029193 (42%) |species == Worm; gene == B0285.1; score == 206; expect == 7.5e-54; MEOW:CEgn0003336 (41%) |species == Worm; gene == ZC123.4a; score == 205; expect == 1.7e-53; MEOW:CEgn0032880 (40%) |species == Worm; gene == ZC123.4b; score == 199; expect == 1.6e-51; MEOW:CEgn0032881 (38%) |species == Worm; gene == ZC504.3; score == 198; expect == 2.0e-51; MEOW:CEgn0020710 (36%) |species == chimp; score == 169; expect == 2.8e-44; MEOW:sp|Q9N272|MK13_PANTR (36%) |species == chimp; score == 153; expect == 2.1e-39; MEOW:sp|Q95NE7|MK14_PANTR (35%) } # EOR GENR { RETE|ID 1 HUgn0001022 CHR 1 5 DID 1 LocusLink:1022 MAP 1 5q12.1 NAM 1 cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) ORG 1 Homo sapiens SYM 1 CDK7 ID|HUgn0001022 DID|LocusLink:1022 ORG|Homo sapiens RSQ|REFSEQ:NM_001799 RPA|REFPROT:NP_001790 DBA|XM:NM_001799 |NA:AK026509 |NA:BC000834 |NA:BC005298 |NA:L20320 |NA:X77303 |NA:X77743 |NA:X79193 |NA:Y13120 |NA:none PAC|XP:NP_001790 SYM|CDK7 NAM|cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) SYN|CAK1 |STK1 |CDKN7 |p39MO15 FNC|cyclin-dependent kinase 7 |transcription initiation from Pol II promoter ; GO:0006367 |regulation of CDK activity ; GO:0000079 |protein amino acid phosphorylation ; GO:0006468 |regulation of transcription, DNA-dependent ; GO:0006355 |DNA repair ; GO:0006281 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene is a member of the cyclin-dependent protein kinase |(CDK) family. CDK family members are highly similar to the gene products of Saccharomyces |cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important |regulators of cell cycle progression. This protein forms a trimeric complex with |cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential |component of the transcription factor TFIIH, that is involved in transcription initiation |and DNA repair. This protein is thought to serve as a direct link between the regulation |of transcription and the cell cycle. CHR|5 PRD|39 KDa protein kinase |Cdk-activating kinase |kinase subunit of CAK |serine/threonine kinase stk1 |cell division protein kinase 7 |serine/threonine protein kinase 1 |serine/threonine protein kinase MO15 |homolog of Xenopus MO15 Cdk-activating kinase |cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184298 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1022[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:374123 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001799 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001799 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=184298 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.184298 |OMIM:601955 |SNP:1022 ENZ|EC:2.7.1.- |cyclin-dependent protein kinase activity ; GO:0004693 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|5q12.1 CEL|nucleus ; GO:0005634 HG|species == rat; score == 676; expect == 0.0; MEOW:ref|XP_215467.2| (95%) |species == Mouse; gene == Cdk7; score == 577; expect == 2e-165; MEOW:MGgn0001259 (84%) |species == Mosquito; score == 479; expect == 5e-136; MEOW:AGgn0002848 (66%) |species == Fruitfly; gene == Cdk7; score == 470; expect == 3e-133; MEOW:FBgn0015617 (66%) |species == Worm; gene == cdk-7; score == 379; expect == 1e-105; MEOW:CEgn0027649 (60%) |species == Weed; gene == At1g18040; score == 370; expect == 8e-103; MEOW:ATgn0006685 (57%) |species == Weed; gene == At1g66750; score == 367; expect == 4e-102; MEOW:ATgn0005496 (56%) |species == Weed; gene == At1g73690; score == 360; expect == 6e-100; MEOW:ATgn0007002 (56%) |species == Yeast; gene == KIN28; score == 283; expect == 2.8e-77; MEOW:SGgn0002266 (48%) |species == Human; gene == CDK3; score == 271; expect == 5.0e-73; MEOW:HUgn0001018 (46%) |species == Human; gene == CDK2; score == 266; expect == 1.6e-71; MEOW:HUgn0001017 (44%) |species == rice; score == 263; expect == 1.8e-70; MEOW:gnl|TIGR|8360.m00166 (46%) |species == rice; score == 262; expect == 3.9e-70; MEOW:gnl|TIGR|8351.m00207 (44%) |species == rice; score == 261; expect == 1.1e-69; MEOW:gnl|TIGR|8360.m00082 (46%) |species == Human; gene == CDK5; score == 258; expect == 2.0e-69; MEOW:HUgn0001020 (45%) |species == rice; score == 258; expect == 7.2e-69; MEOW:gnl|TIGR|8353.m02840 (60%) |species == Zfish; gene == cdk5; score == 254; expect == 3.4e-69; MEOW:ZFgn0002016 (45%) |species == Human; gene == CDC2; score == 253; expect == 1.1e-67; MEOW:HUgn0000983 (44%) |species == Human; gene == CDC2L2; score == 242; expect == 1.9e-64; MEOW:HUgn0000985 (38%) |species == Human; gene == CDC2L1; score == 240; expect == 2.0e-63; MEOW:HUgn0000984 (38%) |species == Human; gene == CDK10; score == 240; expect == 1.2e-63; MEOW:HUgn0008558 (42%) |species == rice; score == 237; expect == 1.3e-62; MEOW:gnl|TIGR|8352.m03766 (41%) |species == Yeast; gene == CDC28; score == 235; expect == 8.7e-63; MEOW:SGgn0000364 (44%) |species == Yeast; gene == PHO85; score == 233; expect == 2.5e-62; MEOW:SGgn0005952 (40%) |species == rice; score == 232; expect == 5.7e-61; MEOW:gnl|TIGR|8351.m03668 (40%) |species == rice; score == 231; expect == 1.3e-60; MEOW:gnl|TIGR|8353.m02815 (40%) |species == Human; gene == PCTK1; score == 228; expect == 2.9e-60; MEOW:HUgn0005127 (40%) |species == rice; score == 228; expect == 1.1e-59; MEOW:gnl|TIGR|8360.m02104 (42%) |species == Human; gene == PCTK3; score == 225; expect == 2.4e-59; MEOW:HUgn0005129 (40%) |species == rice; score == 223; expect == 3.0e-58; MEOW:gnl|TIGR|8355.m04511 (42%) |species == rice; score == 213; expect == 2.7e-55; MEOW:gnl|TIGR|8356.m00096 (37%) |species == rice; score == 211; expect == 2.4e-54; MEOW:gnl|TIGR|8359.m00929 (40%) |species == chimp; score == 166; expect == 3.4e-43; MEOW:sp|Q9N272|MK13_PANTR (34%) |species == chimp; score == 165; expect == 7.5e-43; MEOW:sp|Q95NE7|MK14_PANTR (34%) } # EOR GENR { RETE|ID 1 HUgn0001023 DID 1 LocusLink:1023 NAM 1 Cornelia de Lange syndrome 2 ORG 1 Homo sapiens SYM 1 CDL2 ID|HUgn0001023 DID|LocusLink:1023 ORG|Homo sapiens SYM|CDL2 NAM|Cornelia de Lange syndrome 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265279 } # EOR GENR { RETE|ID 1 HUgn0001024 CHR 1 13 DID 1 LocusLink:1024 MAP 1 13q12 NAM 1 cyclin-dependent kinase 8 ORG 1 Homo sapiens SYM 1 CDK8 ID|HUgn0001024 DID|LocusLink:1024 ORG|Homo sapiens RSQ|REFSEQ:NM_001260 RPA|REFPROT:NP_001251 DBA|XM:NM_001260 |NA:L30109 |NA:L30110 |NA:L23208 |NA:X85753 |NA:none PAC|XP:NP_001251 SYM|CDK8 NAM|cyclin-dependent kinase 8 SYN|K35 FNC|cyclin-dependent kinase 8 |protein amino acid phosphorylation ; GO:0006468 |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 |cytokinesis ; GO:0000910 REAB|The protein encoded by this gene is a member of the cyclin-dependent protein kinase |(CDK) family. CDK family members are highly similar to the gene products of Saccharomyces |cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important |regulators of cell cycle progression. This kinase and its regulatory subunit cyclin |C are components of the RNA polymerase II holoenzyme complex, which phosphorylates |the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This |kinase has also been shown to regulate transcription by targeting the CDK7/cyclin |H subunits of the general transcription initiation factor IIH (TFIIH), thus providing |a link between the 'Mediator-like' protein complexes and the basal transcription |machinery. CHR|13 PRD|protein kinase K35 |CDK8 protein kinase |cell division protein kinase 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=397734 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1024[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836477 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001260 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001260 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.397734 |OMIM:603184 |SNP:1024 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|13q12 HG|species == Mouse; gene == Cdk8; score == 881; expect == 0.0; MEOW:MGgn0001260 (98%) |species == Human; gene == CDK11; score == 717; expect == 0.0; MEOW:HUgn0023097 (77%) |species == Mosquito; gene == LOC13182; score == 667; expect == 0.0; MEOW:AGgn0013182 (87%) |species == Fruitfly; gene == Cdk8; score == 664; expect == 0.0; MEOW:FBgn0015618 (84%) |species == rat; score == 303; expect == 1.4e-82; MEOW:ref|XP_228203.2| (93%) |species == rice; score == 293; expect == 2.3e-79; MEOW:gnl|TIGR|8362.m03533 (46%) |species == Weed; gene == At5g63610; score == 290; expect == 1.2e-78; MEOW:ATgn0023311 (45%) |species == Yeast; gene == SSN3; score == 253; expect == 2.6e-67; MEOW:SGgn0005963 (44%) |species == Worm; gene == cdk-1; score == 193; expect == 1.0e-49; MEOW:CEgn0027648 (37%) |species == Mouse; gene == Cdc2a; score == 193; expect == 1.7e-49; MEOW:MGgn0001218 (36%) |species == Mouse; gene == Cdc2l2; score == 192; expect == 2.2e-49; MEOW:MGgn0001221 (35%) |species == Mouse; gene == Cdk2; score == 190; expect == 8.3e-49; MEOW:MGgn0001253 (38%) |species == Zfish; gene == cdk5; score == 186; expect == 1.6e-48; MEOW:ZFgn0002016 (37%) |species == Mouse; gene == Cdk5; score == 180; expect == 8.6e-46; MEOW:MGgn0001255 (37%) |species == Worm; gene == cdk-7; score == 176; expect == 2.2e-44; MEOW:CEgn0027649 (37%) |species == Worm; gene == B0495.2; score == 171; expect == 4.2e-43; MEOW:CEgn0003560 (35%) |species == Mouse; gene == 1810022J16Rik; score == 169; expect == 2.6e-42; MEOW:MGgn0018642 (35%) |species == Worm; gene == cdk-5; score == 167; expect == 7.9e-42; MEOW:CEgn0000150 (36%) |species == Mouse; gene == Pctk2; score == 163; expect == 1.4e-40; MEOW:MGgn0008846 (35%) |species == Mouse; gene == Cdk4; score == 162; expect == 2.4e-40; MEOW:MGgn0001254 (36%) |species == Worm; gene == ZC504.3; score == 161; expect == 4.3e-40; MEOW:CEgn0020710 (31%) |species == Mouse; gene == Pctk1; score == 161; expect == 7.0e-40; MEOW:MGgn0008845 (34%) |species == Worm; gene == B0285.1; score == 157; expect == 6.3e-39; MEOW:CEgn0003336 (32%) |species == Worm; gene == ZC123.4a; score == 157; expect == 1.1e-38; MEOW:CEgn0032880 (33%) |species == Mouse; gene == Pctk3; score == 157; expect == 7.8e-39; MEOW:MGgn0008847 (32%) |species == chimp; score == 131; expect == 1.7e-32; MEOW:sp|Q9N272|MK13_PANTR (29%) |species == chimp; score == 128; expect == 1.4e-31; MEOW:sp|Q95NE7|MK14_PANTR (32%) } # EOR GENR { RETE|ID 1 HUgn0001025 CHR 1 9 DID 1 LocusLink:1025 MAP 1 9q34.1 NAM 1 cyclin-dependent kinase 9 (CDC2-related kinase) ORG 1 Homo sapiens SYM 1 CDK9 ID|HUgn0001025 DID|LocusLink:1025 ORG|Homo sapiens RSQ|REFSEQ:NM_001261 RPA|REFPROT:NP_001252 DBA|XM:NM_001261 |NA:AF255306 |NA:BC001968 |NA:L25676 |NA:X80230 |NA:none PAC|XP:NP_001252 SYM|CDK9 NAM|cyclin-dependent kinase 9 (CDC2-related kinase) SYN|TAK |C-2k |CDC2L4 |PITALRE FNC|cyclin-dependent kinase 9 |RNA elongation from Pol II promoter ; GO:0006368 |transcription initiation from Pol II promoter ; GO:0006367 |protein amino acid phosphorylation ; GO:0006468 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene is a member of the cyclin-dependent protein kinase |(CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae |cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase |was found to be a component of the multiprotein complex TAK/P-TEFb, which is an |elongation factor for RNA polymerase II-directed transcription and functions by |phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. |This protein forms a complex with and is regulated by its regulatory subunit cyclin |T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin |T, which suggested a possible involvement of this protein in AIDS. CHR|9 PRD|CDC2-related kinase |cell division protein kinase 9 |serine/threonine protein kinase PITALRE URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150423 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1025[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836474 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001261 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001261 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150423 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26316 DBL|UNIGENE:Hs.150423 |OMIM:603251 |SNP:1025 MAP|9q34.1 ENZ|cyclin-dependent protein kinase activity ; GO:0004693 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 CEL|transcription elongation factor complex ; GO:0008023 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cdk9; score == 748; expect == 0.0; MEOW:MGgn0001261 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|XP_342414.1| (98%) |species == Mosquito; score == 546; expect == 4e-156; MEOW:AGgn0020806 (73%) |species == Fruitfly; gene == Cdk9; score == 542; expect == 1e-154; MEOW:FBgn0019949 (73%) |species == rice; score == 314; expect == 6.5e-86; MEOW:gnl|TIGR|8353.m02815 (50%) |species == Weed; gene == CDKC;1; score == 313; expect == 1.9e-85; MEOW:ATgn0022868 (48%) |species == Weed; gene == CDKC;2; score == 311; expect == 3.7e-85; MEOW:ATgn0024770 (48%) |species == Human; gene == CRK7; score == 292; expect == 1.1e-78; MEOW:HUgn0051755 (43%) |species == Human; gene == CDC2L5; score == 290; expect == 4.4e-78; MEOW:HUgn0008621 (48%) |species == rice; score == 289; expect == 2.3e-78; MEOW:gnl|TIGR|8350.m06833 (45%) |species == Worm; gene == B0285.1; score == 273; expect == 2.5e-73; MEOW:CEgn0003336 (45%) |species == Yeast; gene == CTK1; score == 242; expect == 7.8e-65; MEOW:SGgn0001622 (37%) |species == Worm; gene == ZC504.3; score == 231; expect == 2.6e-61; MEOW:CEgn0020710 (39%) |species == Yeast; gene == SGV1; score == 230; expect == 2.2e-60; MEOW:SGgn0006365 (41%) |species == Worm; gene == B0495.2; score == 224; expect == 5.4e-59; MEOW:CEgn0003560 (38%) |species == Yeast; gene == CDC28; score == 214; expect == 1.7e-56; MEOW:SGgn0000364 (39%) |species == Yeast; gene == PHO85; score == 211; expect == 1.1e-55; MEOW:SGgn0005952 (38%) |species == Zfish; gene == cdk5; score == 211; expect == 2.1e-56; MEOW:ZFgn0002016 (39%) |species == Yeast; gene == KIN28; score == 197; expect == 2.9e-51; MEOW:SGgn0002266 (35%) |species == chimp; score == 157; expect == 1.3e-40; MEOW:sp|Q9N272|MK13_PANTR (32%) |species == chimp; score == 152; expect == 4.2e-39; MEOW:sp|Q95NE7|MK14_PANTR (31%) } # EOR GENR { RETE|ID 1 HUgn0001026 CHR 1 6 DID 1 LocusLink:1026 MAP 1 6p21.2 NAM 1 cyclin-dependent kinase inhibitor 1A (p21, Cip1) ORG 1 Homo sapiens SYM 1 CDKN1A ID|HUgn0001026 DID|LocusLink:1026 ORG|Homo sapiens RSQ|REFSEQ:NM_000389 |REFSEQ:NM_078467 RPA|REFPROT:NP_000380 |REFPROT:NP_510867 DBA|XM:NM_000389 |XM:NM_078467 |NA:AY008263 |NA:BC000275 |NA:BC000312 |NA:BC001935 |NA:BC013967 |NA:L25610 |NA:L26165 |NA:L47232 |NA:L47233 |NA:S67388 |NA:U03106 |NA:U09579 PAC|XP:NP_000380 |XP:NP_510867 SYM|CDKN1A NAM|cyclin-dependent kinase inhibitor 1A (p21, Cip1) SYN|P21 |CIP1 |SDI1 |WAF1 |CAP20 |CDKN1 |MDA-6 FNC|cyclin-dependent kinase inhibitor 1A |induction of apoptosis by intracellular signals ; GO:0008629 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 |oncogenesis ; GO:0007048 |regulation of cell cycle ; GO:0000074 REAB|This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein |binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions |as a regulator of cell cycle progression at G1. The expression of this gene is tightly |controlled by the tumor suppressor protein p53, through which this protein mediates |the p53-dependent cell cycle G1 phase arrest in response to a variety of stress |stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), |a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication |and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like |caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental |in the execution of apoptosis following caspase activation. Two alternatively spliced |variants, which encode an identical protein, have been reported. CHR|6 PRD|DNA synthesis inhibitor |CDK-interaction protein 1 |wild-type p53-activated fragment 1 |melanoma differentiation associated protein 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370771 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1026[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:266550 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_078467 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_078467 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370771 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA104 DBL|UNIGENE:Hs.370771 |OMIM:116899 |SNP:1026 MAP|6p21.2 ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 |cell cycle regulator ; GO:0003750 |tumor suppressor ; GO:0008181 |protein kinase activity ; GO:0004672 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdkn1a; score == 246; expect == 2.9e-66; MEOW:MGgn0001262 (76%) |species == rat; score == 243; expect == 2.6e-65; MEOW:ref|NP_542960.1| (74%) } # EOR GENR { RETE|ID 1 HUgn0001027 CHR 1 12 DID 1 LocusLink:1027 MAP 1 12p13.1-p12 NAM 1 cyclin-dependent kinase inhibitor 1B (p27, Kip1) ORG 1 Homo sapiens SYM 1 CDKN1B ID|HUgn0001027 DID|LocusLink:1027 ORG|Homo sapiens RSQ|REFSEQ:NM_004064 RPA|REFPROT:NP_004055 DBA|XM:NM_004064 |NA:AF213700 |NA:S76986 |NA:S76988 |NA:X84849 |NA:Z61220 |NA:Z61221 |NA:AF247551 |NA:AY004255 |NA:BC001971 |NA:BG701047 |NA:U10906 |NA:none PAC|XP:NP_004055 SYM|CDKN1B NAM|cyclin-dependent kinase inhibitor 1B (p27, Kip1) SYN|KIP1 |CDKN4 |P27KIP1 FNC|cyclin-dependent kinase inhibitor 1B |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 REAB|This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity |with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation |of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression |at G1. The degradation of this protein, which is triggered by its CDK dependent |phosphorylation and subsequent ubiquitination by SCF complexes, is required for |the cellular transition from quiescence to the proliferative state. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=238990 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1027[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:636403 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004064 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004064 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=238990 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA105 DBL|UNIGENE:Hs.238990 |OMIM:600778 |SNP:1027 MAP|12p13.1-p12 ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 |TGFbeta receptor, cytoplasmic mediator activity ; GO:0005072 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdkn1b; score == 362; expect == 6e-101; MEOW:MGgn0001263 (87%) |species == rat; score == 358; expect == 1.0e-99; MEOW:ref|NP_113950.1| (86%) } # EOR GENR { RETE|ID 1 HUgn0001028 CHR 1 11 DID 1 LocusLink:1028 MAP 1 11p15.5 NAM 1 cyclin-dependent kinase inhibitor 1C (p57, Kip2) ORG 1 Homo sapiens SYM 1 CDKN1C ID|HUgn0001028 DID|LocusLink:1028 ORG|Homo sapiens RSQ|REFSEQ:NM_000076 RPA|REFPROT:NP_000067 DBA|XM:NM_000076 |NA:D64137 |NA:U48869 |NA:U22398 |NA:none PAC|XP:NP_000067 SYM|CDKN1C NAM|cyclin-dependent kinase inhibitor 1C (p57, Kip2) SYN|BWS |WBS |p57 |BWCR |KIP2 FNC|cyclin-dependent kinase inhibitor 1C |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |G1 phase of mitotic cell cycle ; GO:0000080 |negative regulation of cell cycle ; GO:0045786 REAB|Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk |complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are |implicated in sporadic cancers and Beckwith-Wiedemann syndorome suggesting that |it is a tumor suppressor candidate. CHR|11 PRD|Beckwith-Wiedemann syndrome URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=106070 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1028[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120567 |http://www.gdb.org/gdb-bin/genera/accno?GDB:593296 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000076 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000076 |http://www.geneclinics.org/query?mim=600856 |http://www.geneclinics.org/query?mim=130650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.106070 |OMIM:600856 |SNP:1028 |UWCM:593296.html MAP|11p15.5 PHP|Beckwith-Wiedemann syndrome ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 CEL|nucleus ; GO:0005634 HG|species == rat; score == 176; expect == 1.8e-44; MEOW:ref|XP_341967.1| (69%) } # EOR GENR { RETE|ID 1 HUgn0001029 CHR 1 9 DID 1 LocusLink:1029 MAP 1 9p21 NAM 1 cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) ORG 1 Homo sapiens SYM 1 CDKN2A ID|HUgn0001029 DID|LocusLink:1029 ORG|Homo sapiens RSQ|REFSEQ:NM_000077 |REFSEQ:NM_058195 |REFSEQ:NM_058196 |REFSEQ:NM_058197 RPA|REFPROT:NP_000068 |REFPROT:NP_478102 |REFPROT:NP_478103 |REFPROT:NP_478104 DBA|XM:NM_000077 |XM:NM_058195 |XM:NM_058196 |XM:NM_058197 |NA:S69804 |NA:S69822 |NA:S69824 |NA:U12818 |NA:U12819 |NA:U12820 |NA:X94154 |NA:AF115544 |NA:AL582909 |NA:BC015960 |NA:BC021998 |NA:BI258230 |NA:L27211 |NA:S78535 |NA:U26727 |NA:U38945 PAC|XP:NP_000068 |XP:NP_478102 |XP:NP_478103 |XP:NP_478104 SYM|CDKN2A NAM|cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) SYN|ARF |MLM |P16 |p14 |p16 |p19 |CMM2 |INK4 |MTS1 |TP16 |CDK4I |CDKN2 |INK4a |p14ARF |p16INK4 FNC|alternative reading frame p14 |cyclin-dependent kinase inhibitor 2A isoform 1 |cyclin-dependent kinase inhibitor 2A isoform 2 |cyclin-dependent kinase inhibitor 2A isoform 3 |cell cycle arrest ; GO:0007050 |cell cycle checkpoint ; GO:0000075 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 |oncogenesis ; GO:0007048 REAB|This gene generates several transcript variants which differ in their first exons |and utilize alternate polyadenylation sites. Four alternatively spliced variants |encoding distinct proteins have been reported, three of which encode structurally |related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript |includes an alternate first exon located 20 Kb upstream of the remainder of the |gene; this transcript contains an alternate open reading frame (ARF) that specifies |a protein which is structurally unrelated to the products of the other variants. |This ARF product functions as a stabilizer of the tumor supressor protein p53 as |it can interact with, and sequester, MDM1 a protein responsible for the degradation |of p53. In spite of the structural and functional differences, the CDK inhibitor |isoforms and the ARF product encoded by this gene, through the regulatory roles |of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell |cycle G1 control. This gene is frequently mutated or deleted in a wide variety of |tumors, and is known to be an important tumor suppressor gene. CHR|9 PRD|CDK4 inhibitor p16-INK4 |multiple tumor suppressor 1 |cell cycle negative regulator beta |cyclin-dependent kinase inhibitor p16 |cyclin-dependent kinase inhibitor p12, p16INK4a alternatively spliced form URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421349 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1029[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335362 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_058197 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_058197 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421349 |http://www.geneclinics.org/query?mim=600160 |http://www.ncbi.nlm.nih.gov/disease/Melanoma.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://pcdnr83.uio.no/ DBL|UNIGENE:Hs.421349 |OMIM:600160 |SNP:1029 |UWCM:335362.html MAP|9p21 PHP|Li Fraumeni syndrome |Melanoma and neural system tumor syndrome |Melanoma, cutaneous malignant, 2 |Orolaryngeal cancer, multiple, |Pancreatic cancer/melanoma syndrome ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 |tumor suppressor ; GO:0008181 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdkn2b; score == 211; expect == 6.4e-56; MEOW:MGgn0001266 (89%) |species == Human; gene == CDKN2B; score == 209; expect == 3.7e-55; MEOW:HUgn0001030 (82%) |species == rat; score == 209; expect == 2.4e-55; MEOW:ref|NP_570825.1| (87%) } # EOR GENR { RETE|ID 1 HUgn0001030 CHR 1 9 DID 1 LocusLink:1030 MAP 1 9p21 NAM 1 cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) ORG 1 Homo sapiens SYM 1 CDKN2B ID|HUgn0001030 DID|LocusLink:1030 ORG|Homo sapiens RSQ|REFSEQ:NM_004936 |REFSEQ:NM_078487 RPA|REFPROT:NP_004927 |REFPROT:NP_511042 DBA|XM:NM_004936 |XM:NM_078487 |NA:AF058758 |NA:S69805 |NA:S75756 |NA:AF004819 |NA:AF488410 |NA:BC014469 |NA:BC018984 |NA:L36844 |NA:U17075 PAC|XP:NP_004927 |XP:NP_511042 SYM|CDKN2B NAM|cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) SYN|P15 |MTS2 |TP15 |INK4B FNC|cyclin-dependent kinase inhibitor 2B isoform 1 |cyclin-dependent kinase inhibitor 2B isoform 2 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 |oncogenesis ; GO:0007048 REAB|This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently |mutated and deleted in a wide variety of tumors. The product encoded by this gene |is a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, |and prevents the activation of the CDK kinases, thus functions as a cell growth |regulator that controls cell cycle G1 progression. The expression of this gene was |found to be dramatically induced by TGF beta, which suggested its role in the TGF |beta induced growth inhibition. Two alternatively spliced transcript variants of |this gene, which encode distinct proteins, have been reported. CHR|9 PRD|p14_INK4B |p15_INK4B |CDK4B inhibitor |p14_CDK inhibitor |p15 CDK inhibitor |CDK inhibitory protein |multiple tumor suppressor 2 |cyclin-dependent kinase 4 inhibitor B |cyclin-dependent kinases 4 and 6 binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72901 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1030[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:579577 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_078487 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_078487 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=72901 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.72901 |OMIM:600431 |SNP:1030 MAP|9p21 ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 |tumor suppressor ; GO:0008181 HG|species == rat; score == 228; expect == 6.6e-61; MEOW:ref|NP_570825.1| (88%) |species == Mouse; gene == Cdkn2b; score == 227; expect == 1.2e-60; MEOW:MGgn0001266 (88%) |species == Human; gene == CDKN2A; score == 209; expect == 3.7e-55; MEOW:HUgn0001029 (82%) } # EOR GENR { RETE|ID 1 HUgn0001031 CHR 1 1 DID 1 LocusLink:1031 MAP 1 1p32 NAM 1 cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) ORG 1 Homo sapiens SYM 1 CDKN2C ID|HUgn0001031 DID|LocusLink:1031 ORG|Homo sapiens RSQ|REFSEQ:NM_001262 |REFSEQ:NM_078626 RPA|REFPROT:NP_001253 |REFPROT:NP_523240 DBA|XM:NM_001262 |XM:NM_078626 |NA:AF041249 |NA:AF041250 |NA:AF058759 |NA:AF041248 |NA:AK021794 |NA:AK091170 |NA:BC016173 |NA:BC017036 |NA:BE831176 |NA:U17074 |NA:none PAC|XP:NP_001253 |XP:NP_523240 SYM|CDKN2C NAM|cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) SYN|p18 |INK4C |p18-INK4C FNC|cyclin-dependent kinase inhibitor 2C |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |cell cycle ; GO:0007049 REAB|The protein encoded by this gene is a member of the INK4 family of cyclin-dependent |kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and |prevent the activation of the CDK kinases, thus function as a cell growth regulator |that controls cell cycle G1 progression. Ectopic expression of this gene was shown |to suppress the growth of human cells in a manner that appears to correlate with |the presence of a wild-type RB1 function. Studies in the knockout mice suggested |the roles of this gene in regulating spermatogenesis, as well as in suppressing |tumorigenesis. Two alternatively spliced transcript variants of this gene, which |encode an identical protein, have been reported. CHR|1 PRD|CDK6 inhibitor p18 |cyclin-dependent inhibitor |cyclin-dependent kinase 4 inhibitor C |cyclin-dependent kinase 6 inhibitor p18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4854 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1031[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:594931 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001262 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001262 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=4854 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.4854 |OMIM:603369 |SNP:1031 MAP|1p32 ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 287; expect == 2.8e-78; MEOW:ref|NP_571977.1| (92%) |species == Mouse; gene == Cdkn2c; score == 284; expect == 1.2e-77; MEOW:MGgn0001267 (92%) |species == Human; gene == CDKN2D; score == 132; expect == 1.1e-31; MEOW:HUgn0001032 (45%) } # EOR GENR { RETE|ID 1 HUgn0001032 CHR 1 19 DID 1 LocusLink:1032 MAP 1 19p13 NAM 1 cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) ORG 1 Homo sapiens SYM 1 CDKN2D ID|HUgn0001032 DID|LocusLink:1032 ORG|Homo sapiens RSQ|REFSEQ:NM_001800 |REFSEQ:NM_079421 RPA|REFPROT:NP_001791 |REFPROT:NP_524145 DBA|XM:NM_001800 |XM:NM_079421 |NA:AF044171 |NA:AF061327 |NA:BC001822 |NA:BG719545 |NA:BI462387 |NA:U20498 |NA:U40343 |NA:U49399 |NA:none PAC|XP:NP_001791 |XP:NP_524145 SYM|CDKN2D NAM|cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) SYN|INK4D |p19-INK4D FNC|cyclin-dependent kinase inhibitor 2D |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |negative regulation of cell cycle ; GO:0045786 REAB|The protein encoded by this gene is a member of the INK4 family of cyclin-dependent |kinase inhibitors. This protein has been shown to form a stable complex with CDK4 |or CDK6, and prevent the activation of the CDK kinases, thus function as a cell |growth regulator that controls cell cycle G1 progression. The abundance of the transcript |of this gene was found to oscillate in a cell-cycle dependent manner with the lowest |expression at mid G1 and a maximal expression during S phase. The negative regulation |of the cell cycle involved in this protein was shown to participate in repressing |neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants |of this gene, which encode an identical protein, have been reported. CHR|19 PRD|CDK inhibitor p19INK4d |inhibitor of cyclin-dependent kinase 4d |cyclin-dependent kinase 4 inhibitor D p19 |cell cycle inhibitor, Nur77 associating protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435051 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1032[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:594926 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001800 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001800 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435051 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.435051 |OMIM:600927 |SNP:1032 MAP|19p13 ENZ|cyclin-dependent protein kinase inhibitor activity ; GO:0004861 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cdkn2d; score == 286; expect == 3.2e-78; MEOW:MGgn0001268 (86%) |species == Human; gene == CDKN2C; score == 132; expect == 1.1e-31; MEOW:HUgn0001031 (45%) |species == rat; score == 130; expect == 4.3e-31; MEOW:ref|NP_571977.1| (43%) } # EOR GENR { RETE|ID 1 HUgn0001033 CHR 1 14 DID 1 LocusLink:1033 MAP 1 14q22 NAM 1 cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) ORG 1 Homo sapiens SYM 1 CDKN3 ID|HUgn0001033 DID|LocusLink:1033 ORG|Homo sapiens RSQ|REFSEQ:NM_005192 RPA|REFPROT:NP_005183 DBA|XM:NM_005192 |NA:AF213033 |NA:AF213034 |NA:AF213035 |NA:AF213036 |NA:AF213037 |NA:AF213038 |NA:AF213039 |NA:AF213040 |NA:AF213041 |NA:AF213042 |NA:AF213043 |NA:AF213044 |NA:AF213045 |NA:AF213046 |NA:AF213047 |NA:AF213048 |NA:AF213049 |NA:AF213050 |NA:AF213051 |NA:AF213052 |NA:AF213053 |NA:L25876 |NA:L27711 |NA:U02681 PAC|XP:NP_005183 SYM|CDKN3 NAM|cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) SYN|KAP |CDI1 |CIP2 |KAP1 FNC|cyclin-dependent kinase inhibitor 3 |G1/S transition of mitotic cell cycle ; GO:0000082 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |regulation of CDK activity ; GO:0000079 REAB|The protein encoded by this gene belongs to the dual specificity protein phosphatase |family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown |to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of |CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in |several kinds of cancers. CHR|14 PRD|kinase-associated phosphatase |cyclin-dependent kinase interactor 1 |CDK2-associated dual specificity phosphatase |cyclin-dependent kinase interacting protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=84113 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1033[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:330748 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005192 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005192 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.84113 |OMIM:123832 |SNP:1033 MAP|14q22 ENZ|protein tyrosine/serine/threonine phosphatase activity ; GO:0008138 HG|species == rat; score == 376; expect == 5e-105; MEOW:ref|XP_214152.1| (90%) |species == Mouse; gene == Cdkn3; score == 256; expect == 3.2e-69; MEOW:MGgn0020263 (87%) } # EOR GENR { RETE|ID 1 HUgn0001034 CHR 1 3 DID 1 LocusLink:1034 MAP 1 3q26.3 NAM 1 Cornelia de Lange syndrome 1 ORG 1 Homo sapiens SYM 1 CDL1 ID|HUgn0001034 DID|LocusLink:1034 ORG|Homo sapiens SYM|CDL1 NAM|Cornelia de Lange syndrome 1 SYN|CDL CHR|3 DBL|OMIM:122470 MAP|3q26.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136344 } # EOR GENR { RETE|ID 1 HUgn0001036 CHR 1 5 DID 1 LocusLink:1036 MAP 1 5q22-q23 NAM 1 cysteine dioxygenase, type I ORG 1 Homo sapiens SYM 1 CDO1 ID|HUgn0001036 DID|LocusLink:1036 ORG|Homo sapiens RSQ|REFSEQ:NM_001801 RPA|REFPROT:NP_001792 DBA|XM:NM_001801 |NA:D85782 |NA:U60232 |NA:U80055 |NA:AK130357 |NA:BC024241 |NA:D85777 |NA:Z23010 |NA:Z31357 |NA:none PAC|XP:NP_001792 SYM|CDO1 NAM|cysteine dioxygenase, type I FNC|cysteine dioxygenase, type I CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442378 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1036[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438743 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001801 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001801 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=442378 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00272 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00430 DBL|UNIGENE:Hs.442378 |OMIM:603943 |SNP:1036 MAP|5q22-q23 ENZ|electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 |cysteine dioxygenase activity ; GO:0017172 HG|species == Mouse; gene == Cdo1; score == 396; expect == 4e-111; MEOW:MGgn0001270 (92%) |species == rat; score == 396; expect == 6e-111; MEOW:ref|NP_434696.1| (92%) |species == Mosquito; gene == LOC15678; score == 214; expect == 1.1e-56; MEOW:AGgn0015678 (52%) |species == Fruitfly; gene == CG5493; score == 213; expect == 4.2e-56; MEOW:FBgn0034364 (52%) |species == Worm; gene == F56F10.3; score == 199; expect == 4.4e-52; MEOW:CEgn0012142 (50%) } # EOR GENR { RETE|ID 1 HUgn0001038 CHR 1 X DID 1 LocusLink:1038 MAP 1 Xq27.1-q27.2 NAM 1 cerebellar degeneration-related protein 1, 34kDa ORG 1 Homo sapiens SYM 1 CDR1 ID|HUgn0001038 DID|LocusLink:1038 ORG|Homo sapiens RSQ|REFSEQ:NM_004065 RPA|REFPROT:NP_004056 DBA|XM:NM_004065 |NA:M31423 |NA:M16965 |NA:none PAC|XP:NP_004056 SYM|CDR1 NAM|cerebellar degeneration-related protein 1, 34kDa SYN|CDR |CDR34 |CDR62A FNC|cerebellar degeneration-related protein 1, 34kDa |cell growth and/or maintenance ; GO:0008151 CHR|X PRD|cerebellar degeneration-related protein (34kD) |Cerebellar degeneration-related protein-1 (34kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370504 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446675 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119053 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004065 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004065 DBL|UNIGENE:Hs.370504 |UNIGENE:Hs.446675 |OMIM:302650 |SNP:1038 MAP|Xq27.1-q27.2 } # EOR GENR { RETE|ID 1 HUgn0001039 CHR 1 16 DID 1 LocusLink:1039 MAP 1 16p12.3 NAM 1 cerebellar degeneration-related protein 2, 62kDa ORG 1 Homo sapiens SYM 1 CDR2 ID|HUgn0001039 DID|LocusLink:1039 ORG|Homo sapiens DBA|XM:XM_071866 |NA:BC017503 |NA:BC035163 |NA:D12981 |NA:M63256 |NA:none PAC|XP:XP_071866 SYM|CDR2 NAM|cerebellar degeneration-related protein 2, 62kDa SYN|CDR62 CHR|16 PRD|major Yo paraneoplastic antigen |cerebellar degeneration-related protein (62kD) |cerebellar degeneration-related antigen-2 (62kD) |paraneoplastic cerebellar degeneration-associated antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112906 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1039[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128128 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC017503 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC017503 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=112906 DBL|UNIGENE:Hs.112906 |OMIM:117340 |SNP:1039 MAP|16p12.3 ENZ|molecular_function unknown ; GO:0005554 FNC|biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 716; expect == 0.0; MEOW:ref|XP_219291.2| (86%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_347289.1| (86%) |species == Mouse; gene == Cdr2; score == 701; expect == 0.0; MEOW:MGgn0001272 (87%) |species == Human; gene == HUMPPA; score == 289; expect == 2.5e-78; MEOW:HUgn0030850 (43%) } # EOR GENR { RETE|ID 1 HUgn0001040 CHR 1 4 DID 1 LocusLink:1040 MAP 1 4q21.23 NAM 1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 ORG 1 Homo sapiens SYM 1 CDS1 ID|HUgn0001040 DID|LocusLink:1040 ORG|Homo sapiens RSQ|REFSEQ:NM_001263 RPA|REFPROT:NP_001254 DBA|XM:NM_001263 |NA:AU139278 |NA:U60808 |NA:U65887 |NA:none PAC|XP:NP_001254 SYM|CDS1 NAM|CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 SYN|CDS FNC|phosphatidate cytidylyltransferase 1 |phospholipid biosynthesis ; GO:0008654 |vision ; GO:0007601 |lipid metabolism ; GO:0006629 |signal transduction ; GO:0007165 REAB|Breakdown products of phosphoinositides are ubiquitous second messengers that function |downstream of many G protein-coupled receptors and tyrosine kinases regulating cell |growth, calcium metabolism, and protein kinase C activity. This gene encodes an |enzyme which regulates the amount of phosphatidylinositol available for signaling |by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme |is an integral membrane protein localized to two subcellular domains, the matrix |side of the inner mitochondrial membrane where it is thought to be involved in the |synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the |endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two |genes encoding this enzyme have been identified in humans, one mapping to human |chromosome 4q21 and a second to 20p13. CHR|4 PRD|CDP-DAG synthase 1 |CDP-DG synthetase 1 |CDP-diglyceride synthetase 1 |CDP-diacylglycerol synthase 1 |CDP-diglyceride pyrophosphorylase 1 |phosphatidate cytidylyltransferase 1 |CTP:phosphatidate cytidylyltransferase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380684 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1040[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862898 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001263 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001263 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.380684 |OMIM:603548 |SNP:1040 ENZ|EC:2.7.7.41 |diacylglycerol cholinephosphotransferase activity ; GO:0004142 |magnesium ion binding ; GO:0000287 |phosphatidate cytidylyltransferase activity ; GO:0004605 |transferase activity ; GO:0016740 MAP|4q21.23 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cds1; score == 881; expect == 0.0; MEOW:MGgn0022997 (95%) |species == rat; score == 875; expect == 0.0; MEOW:ref|NP_112521.1| (95%) |species == Human; gene == CDS2; score == 677; expect == 0.0; MEOW:HUgn0008760 (71%) |species == Mosquito; score == 520; expect == 4e-148; MEOW:AGgn0018867 (60%) |species == Fruitfly; gene == CdsA; score == 509; expect == 9e-145; MEOW:FBgn0010350 (57%) |species == Worm; gene == C33H5.18b; score == 445; expect == 3e-125; MEOW:CEgn0027806 (52%) |species == Worm; gene == C33H5.18a; score == 444; expect == 6e-125; MEOW:CEgn0027805 (52%) |species == Weed; gene == At4g22340; score == 319; expect == 1.6e-87; MEOW:ATgn0020596 (42%) |species == Weed; gene == At1g62430; score == 316; expect == 1.4e-86; MEOW:ATgn0006577 (41%) |species == rice; score == 311; expect == 1.4e-84; MEOW:gnl|TIGR|8350.m05161 (44%) |species == Weed; gene == At4g26770; score == 303; expect == 9.5e-83; MEOW:ATgn0018102 (41%) |species == Yeast; gene == CDS1; score == 291; expect == 6.7e-79; MEOW:SGgn0000233 (40%) } # EOR GENR { RETE|ID 1 HUgn0001041 CHR 1 6 DID 1 LocusLink:1041 MAP 1 6p21.3 NAM 1 corneodesmosin ORG 1 Homo sapiens SYM 1 CDSN ID|HUgn0001041 DID|LocusLink:1041 ORG|Homo sapiens RSQ|REFSEQ:NM_001264 RPA|REFPROT:NP_001255 DBA|XM:NM_001264 |NA:AF224747 |NA:AF224748 |NA:AF224749 |NA:AF224750 |NA:AF224751 |NA:AF224752 |NA:AF224753 |NA:AF224754 |NA:AF224755 |NA:AF224756 |NA:AF224757 |NA:AF224758 |NA:AF286165 |NA:AF491326 |NA:AF491328 |NA:AF491330 |NA:AJ238461 |NA:AJ238462 |NA:AJ238463 |NA:AJ238464 |NA:AJ238465 |NA:AJ238466 |NA:AJ238467 |NA:AP000510 |NA:AF030130 |NA:AI768204 |NA:BC031993 |NA:L20815 |NA:none PAC|XP:NP_001255 SYM|CDSN NAM|corneodesmosin SYN|HTSS |D6S586E FNC|corneodesmosin precursor REAB|This gene encodes a protein found in corneodesmosomes, which localize to human epidermis |and other cornified squamous epithelia. During maturation of the cornified layers, |the protein undergoes a series of cleavages, which are thought to be required for |desquamation. The gene is located in the major histocompatibility complex (MHC) |class I region on chromosome 6. CHR|6 PRD|S protein |differentiated keratinocyte S protein precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=520006 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837405 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001264 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001264 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=520006 DBL|UNIGENE:Hs.520006 |OMIM:602593 |SNP:1041 MAP|6p21.3 PHP|Hypotrichosis simplex of scalp HG|species == chimp; score == 455; expect == 3e-128; MEOW:sp|BAC78170|BAC78170 (99%) } # EOR GENR { RETE|ID 1 HUgn0001043 CHR 1 1 DID 1 LocusLink:1043 MAP 1 1p36 NAM 1 CDW52 antigen (CAMPATH-1 antigen) ORG 1 Homo sapiens SYM 1 CDW52 ID|HUgn0001043 DID|LocusLink:1043 ORG|Homo sapiens RSQ|REFSEQ:NM_001803 RPA|REFPROT:NP_001794 DBA|XM:NM_001803 |NA:BC000644 |NA:X62466 |NA:X67699 |NA:none PAC|XP:NP_001794 SYM|CDW52 NAM|CDW52 antigen (CAMPATH-1 antigen) SYN|CD52 FNC|CDW52 antigen (CAMPATH-1 antigen) CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=276770 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1043[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128729 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001803 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001803 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=276770 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26350 DBL|UNIGENE:Hs.276770 |OMIM:114280 |SNP:1043 |PROW:666618040 MAP|1p36 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 } # EOR GENR { RETE|ID 1 HUgn0001044 CHR 1 5 DID 1 LocusLink:1044 MAP 1 5q31-q33 NAM 1 caudal type homeo box transcription factor 1 ORG 1 Homo sapiens SYM 1 CDX1 ID|HUgn0001044 DID|LocusLink:1044 ORG|Homo sapiens RSQ|REFSEQ:NM_001804 RPA|REFPROT:NP_001795 DBA|XM:NM_001804 |NA:U16360 |NA:AF239666 |NA:U15212 |NA:U51095 |NA:none PAC|XP:NP_001795 SYM|CDX1 NAM|caudal type homeo box transcription factor 1 FNC|caudal type homeo box transcription factor 1 |regulation of transcription, DNA-dependent ; GO:0006355 |histogenesis and organogenesis ; GO:0007397 |development ; GO:0007275 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1545 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1044[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001804 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001804 DBL|UNIGENE:Hs.1545 |OMIM:600746 |SNP:1044 MAP|5q31-q33 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Zfish; gene == cad1; score == 199; expect == 1.2e-51; MEOW:ZFgn0000097 (50%) |species == Mouse; gene == Cdx1; score == 198; expect == 1.9e-51; MEOW:MGgn0001277 (84%) |species == rat; score == 196; expect == 1.1e-50; MEOW:ref|XP_344692.1| (80%) |species == Human; gene == CDX2; score == 173; expect == 1.2e-43; MEOW:HUgn0001045 (46%) |species == rat; score == 171; expect == 4.7e-43; MEOW:ref|NP_076453.1| (46%) |species == rat; score == 171; expect == 5.5e-43; MEOW:ref|XP_228569.1| (42%) |species == Mouse; gene == Cdx4; score == 170; expect == 7.0e-43; MEOW:MGgn0001279 (43%) |species == Human; gene == CDX4; score == 164; expect == 5.1e-41; MEOW:HUgn0001046 (46%) } # EOR GENR { RETE|ID 1 HUgn0001045 CHR 1 13 DID 1 LocusLink:1045 MAP 1 13q12.3 NAM 1 caudal type homeo box transcription factor 2 ORG 1 Homo sapiens SYM 1 CDX2 ID|HUgn0001045 DID|LocusLink:1045 ORG|Homo sapiens RSQ|REFSEQ:NM_001265 RPA|REFPROT:NP_001256 DBA|XM:NM_001265 |NA:AF007886 |NA:BC014461 |NA:U51096 |NA:Y13709 |NA:none PAC|XP:NP_001256 SYM|CDX2 NAM|caudal type homeo box transcription factor 2 SYN|CDX3 |CDX-3 FNC|caudal type homeo box transcription factor 2 |regulation of transcription, DNA-dependent ; GO:0006355 |histogenesis and organogenesis ; GO:0007397 |development ; GO:0007275 |transcription from Pol II promoter ; GO:0006366 CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=174249 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1045[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:383364 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001265 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001265 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=174249 DBL|UNIGENE:Hs.174249 |OMIM:600297 |SNP:1045 MAP|13q12.3 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 375; expect == 2e-104; MEOW:ref|NP_076453.1| (93%) |species == Mouse; gene == Cdx2; score == 360; expect == 5e-100; MEOW:MGgn0001278 (91%) |species == Zfish; gene == cad1; score == 214; expect == 3.5e-56; MEOW:ZFgn0000097 (50%) |species == Human; gene == CDX1; score == 173; expect == 1.2e-43; MEOW:HUgn0001044 (46%) |species == Human; gene == CDX4; score == 143; expect == 1.2e-34; MEOW:HUgn0001046 (40%) } # EOR GENR { RETE|ID 1 HUgn0001046 CHR 1 X DID 1 LocusLink:1046 MAP 1 Xq13.2 NAM 1 caudal type homeo box transcription factor 4 ORG 1 Homo sapiens SYM 1 CDX4 ID|HUgn0001046 DID|LocusLink:1046 ORG|Homo sapiens RSQ|REFSEQ:NM_005193 RPA|REFPROT:NP_005184 DBA|XM:NM_005193 |NA:AF003530 |NA:AF029877 |NA:AF029878 |NA:AF029879 |NA:none PAC|XP:NP_005184 SYM|CDX4 NAM|caudal type homeo box transcription factor 4 FNC|caudal type homeo box transcription factor 4 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=248098 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1046[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:582581 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005193 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005193 DBL|UNIGENE:Hs.248098 |OMIM:300025 |SNP:1046 MAP|Xq13.2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cdx4; score == 441; expect == 2e-124; MEOW:MGgn0001279 (82%) |species == rat; score == 436; expect == 9e-123; MEOW:ref|XP_228569.1| (82%) |species == Zfish; gene == cad1; score == 248; expect == 2.2e-66; MEOW:ZFgn0000097 (52%) |species == Human; gene == CDX1; score == 164; expect == 5.1e-41; MEOW:HUgn0001044 (46%) |species == Human; gene == CDX2; score == 143; expect == 1.2e-34; MEOW:HUgn0001045 (40%) } # EOR GENR { RETE|ID 1 HUgn0001047 CHR 1 4 DID 1 LocusLink:1047 MAP 1 4q28.3-q31.1 NAM 1 calmegin ORG 1 Homo sapiens SYM 1 CLGN ID|HUgn0001047 DID|LocusLink:1047 ORG|Homo sapiens RSQ|REFSEQ:NM_004362 RPA|REFPROT:NP_004353 DBA|XM:NM_004362 |NA:AK093096 |NA:BC028357 |NA:D86322 |NA:none PAC|XP:NP_004353 SYM|CLGN NAM|calmegin FNC|calmegin |fertilization (sensu Animalia) ; GO:0007338 REAB|Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=86368 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1047[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5584378 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004362 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004362 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=86368 DBL|UNIGENE:Hs.86368 |OMIM:601858 |SNP:1047 MAP|4q28.3-q31.1 ENZ|calcium ion storage activity ; GO:0005514 |chaperone activity ; GO:0003754 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Clgn; score == 992; expect == 0.0; MEOW:MGgn0001445 (76%) |species == Human; gene == CANX; score == 672; expect == 0.0; MEOW:HUgn0000821 (60%) |species == rat; score == 664; expect == 0.0; MEOW:ref|NP_742005.1| (62%) |species == rat; score == 568; expect == 4e-162; MEOW:ref|XP_222484.2| (84%) |species == Mosquito; gene == LOC21843; score == 473; expect == 9e-134; MEOW:AGgn0021843 (51%) |species == Fruitfly; gene == CG9906; score == 451; expect == 4e-127; MEOW:FBgn0030755 (51%) |species == Mosquito; gene == LOC24049; score == 426; expect == 2e-119; MEOW:AGgn0024049 (53%) |species == Worm; gene == cnx-1; score == 405; expect == 4e-113; MEOW:CEgn0000239 (43%) |species == Fruitfly; gene == CG1924; score == 401; expect == 3e-112; MEOW:FBgn0030377 (45%) |species == rice; score == 351; expect == 1.3e-96; MEOW:gnl|TIGR|8352.m03058 (45%) |species == Weed; gene == CNX1; score == 343; expect == 1.6e-94; MEOW:ATgn0021725 (46%) |species == Weed; gene == At5g07340; score == 337; expect == 1.5e-92; MEOW:ATgn0021306 (45%) |species == Zfish; gene == calr; score == 233; expect == 9.2e-63; MEOW:ZFgn0000696 (37%) |species == Yeast; gene == CNE1; score == 203; expect == 2.1e-52; MEOW:SGgn0000054 (32%) } # EOR GENR { RETE|ID 1 HUgn0001048 CHR 1 19 DID 1 LocusLink:1048 MAP 1 19q13.1-q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 5 ORG 1 Homo sapiens SYM 1 CEACAM5 ID|HUgn0001048 DID|LocusLink:1048 ORG|Homo sapiens RSQ|REFSEQ:NM_004363 RPA|REFPROT:NP_004354 DBA|XM:NM_004363 |NA:M17303 |NA:M59710 |NA:BC034671 |NA:M15042 |NA:M16234 |NA:M29540 |NA:X16455 |NA:none PAC|XP:NP_004354 SYM|CEACAM5 NAM|carcinoembryonic antigen-related cell adhesion molecule 5 SYN|CEA |CD66e FNC|carcinoembryonic antigen-related cell adhesion molecule 5 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=220529 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119054 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004363 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004363 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=220529 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.220529 |OMIM:114890 |SNP:1048 |PROW:1467555165 MAP|19q13.1-q13.2 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 HG|species == Human; gene == CEACAM1; score == 609; expect == 2e-174; MEOW:HUgn0000634 (73%) |species == Human; gene == CEACAM6; score == 550; expect == 6e-157; MEOW:HUgn0004680 (83%) |species == rat; score == 380; expect == 8e-106; MEOW:ref|NP_113943.1| (47%) |species == Mouse; gene == Ceacam1; score == 201; expect == 1.0e-51; MEOW:MGgn0001284 (43%) |species == Mouse; gene == 9130012D09Rik; score == 177; expect == 1.1e-44; MEOW:MGgn0026943 (31%) |species == Mouse; gene == Ceacam2; score == 176; expect == 2.0e-44; MEOW:MGgn0001286 (37%) } # EOR GENR { RETE|ID 1 HUgn0001050 CHR 1 19 DID 1 LocusLink:1050 MAP 1 19q13.1 NAM 1 CCAAT/enhancer binding protein (C/EBP), alpha ORG 1 Homo sapiens SYM 1 CEBPA ID|HUgn0001050 DID|LocusLink:1050 ORG|Homo sapiens RSQ|REFSEQ:NM_004364 RPA|REFPROT:NP_004355 DBA|XM:NM_004364 |NA:U34070 |NA:BC027902 |NA:X87248 |NA:Y11525 |NA:none PAC|XP:NP_004355 SYM|CEBPA NAM|CCAAT/enhancer binding protein (C/EBP), alpha SYN|CEBP |C/EBP-alpha FNC|CCAAT/enhancer binding protein alpha REAB|The protein encoded by this intronless gene is a bZIP transcription factor which |can bind as a homodimer to certain promoters and enhancers. It can also form heterodimers |with the related proteins CEBP-beta and CEBP-gamma. The encoded protein has been |shown to bind to the promoter and modulate the expression of the gene encoding leptin, |a protein that plays an important role in body weight homeostasis. Also, the encoded |protein can interact with CDK2 and CDK4, thereby inhibiting these kinases and causing |growth arrest in cultured cells. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76171 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1050[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128839 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004364 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004364 DBL|UNIGENE:Hs.76171 |OMIM:116897 |SNP:1050 MAP|19q13.1 PHP|Leukemia, acute myeloid HG|species == Mouse; gene == Cebpa; score == 364; expect == 4e-101; MEOW:MGgn0001288 (81%) |species == rat; score == 354; expect == 3.6e-98; MEOW:ref|NP_036656.1| (86%) |species == Zfish; gene == cebpa; score == 252; expect == 1.4e-67; MEOW:ZFgn0002420 (51%) |species == Human; gene == CEBPE; score == 167; expect == 4.5e-42; MEOW:HUgn0001053 (38%) } # EOR GENR { RETE|ID 1 HUgn0001051 CHR 1 20 DID 1 LocusLink:1051 MAP 1 20q13.1 NAM 1 CCAAT/enhancer binding protein (C/EBP), beta ORG 1 Homo sapiens SYM 1 CEBPB ID|HUgn0001051 DID|LocusLink:1051 ORG|Homo sapiens RSQ|REFSEQ:NM_005194 RPA|REFPROT:NP_005185 DBA|XM:NM_005194 |NA:X52560 |NA:AF289608 |NA:BC005132 |NA:BC007538 |NA:BC021931 |NA:BU753628 |NA:D63161 |NA:M98056 |NA:none PAC|XP:NP_005185 SYM|CEBPB NAM|CCAAT/enhancer binding protein (C/EBP), beta SYN|LAP |CRP2 |TCF5 |IL6DBP |NF-IL6 |MGC32080 |C/EBP-beta FNC|CCAAT/enhancer binding protein beta |acute-phase response ; GO:0006953 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 |inflammatory response ; GO:0006954 REAB|The protein encoded by this intronless gene is a bZIP transcription factor which |can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers |with the related proteins CEBP-alpha, CEBP-delta, and CEBP-gamma. The encoded protein |is important in the regulation of genes involved in immune and inflammatory responses |and has been shown to bind to the IL-1 response element in the IL-6 gene, as well |as to regulatory regions of several acute-phase and cytokine genes. In addition, |the encoded protein can bind the promoter and upstream element and stimulate the |expression of the collagen type I gene. CHR|20 PRD|transcription factor 5 |nuclear factor of interleukin 6 |interleukin 6-dependent DNA-binding protein |liver-enriched transcriptional activator protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99029 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1051[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126373 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005194 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005194 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99029 DBL|UNIGENE:Hs.99029 |OMIM:189965 |SNP:1051 MAP|20q13.1 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cebpb; score == 322; expect == 9.6e-89; MEOW:MGgn0001290 (66%) |species == rat; score == 314; expect == 4.0e-86; MEOW:ref|NP_077039.2| (65%) |species == Human; gene == CEBPE; score == 137; expect == 8.5e-33; MEOW:HUgn0001053 (35%) } # EOR GENR { RETE|ID 1 HUgn0001052 CHR 1 8 DID 1 LocusLink:1052 MAP 1 8p11.2-p11.1 NAM 1 CCAAT/enhancer binding protein (C/EBP), delta ORG 1 Homo sapiens SYM 1 CEBPD ID|HUgn0001052 DID|LocusLink:1052 ORG|Homo sapiens RSQ|REFSEQ:NM_005195 RPA|REFPROT:NP_005186 DBA|XM:NM_005195 |NA:S63168 |NA:M83667 |NA:none PAC|XP:NP_005186 SYM|CEBPD NAM|CCAAT/enhancer binding protein (C/EBP), delta SYN|CELF |CRP3 |C/EBP-delta |NF-IL6-beta FNC|CCAAT/enhancer binding protein delta |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|The protein encoded by this intronless gene is a bZIP transcription factor which |can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers |with the related protein CEBP-alpha. The encoded protein is important in the regulation |of genes involved in immune and inflammatory responses, and may be involved in the |regulation of genes associated with activation and/or differentiation of macrophages. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381058 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1052[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132661 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005195 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005195 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26378 DBL|UNIGENE:Hs.381058 |OMIM:116898 |SNP:1052 MAP|8p11.2-p11.1 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cebpd; score == 396; expect == 7e-111; MEOW:MGgn0001291 (84%) |species == Zfish; gene == cebpd; score == 200; expect == 6.2e-52; MEOW:ZFgn0002422 (48%) } # EOR GENR { RETE|ID 1 HUgn0001053 CHR 1 14 DID 1 LocusLink:1053 MAP 1 14q11.2 NAM 1 CCAAT/enhancer binding protein (C/EBP), epsilon ORG 1 Homo sapiens SYM 1 CEBPE ID|HUgn0001053 DID|LocusLink:1053 ORG|Homo sapiens RSQ|REFSEQ:NM_001805 RPA|REFPROT:NP_001796 DBA|XM:NM_001805 |NA:U48865 |NA:U80982 |NA:BC035797 |NA:BG387972 |NA:U48866 |NA:none PAC|XP:NP_001796 SYM|CEBPE NAM|CCAAT/enhancer binding protein (C/EBP), epsilon SYN|CRP1 |C/EBP-epsilon FNC|CCAAT/enhancer binding protein epsilon |regulation of transcription, DNA-dependent ; GO:0006355 |defense response ; GO:0006952 REAB|The protein encoded by this gene is a bZIP transcription factor which can bind as |a homodimer to certain DNA regulatory regions. It can also form heterodimers with |the related protein CEBP-delta. The encoded protein may be essential for terminal |differentiation and functional maturation of committed granulocyte progenitor cells. |Mutations in this gene have been associated with Specific Granule Deficiency, a |rare congenital disorder. Multiple variants of this gene have been described, but |the full-length nature of only one has been determined. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=426867 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1053[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001805 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001805 DBL|UNIGENE:Hs.426867 |OMIM:600749 |SNP:1053 |UWCM:132660.html MAP|14q11.2 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 548; expect == 1e-156; MEOW:ref|NP_058791.1| (93%) |species == Human; gene == CEBPA; score == 167; expect == 4.5e-42; MEOW:HUgn0001050 (38%) |species == Mouse; gene == Cebpa; score == 161; expect == 2.1e-40; MEOW:MGgn0001288 (35%) |species == Zfish; gene == cebpa; score == 159; expect == 8.7e-41; MEOW:ZFgn0002420 (41%) |species == Human; gene == CEBPB; score == 137; expect == 8.5e-33; MEOW:HUgn0001051 (35%) } # EOR GENR { RETE|ID 1 HUgn0001054 CHR 1 19 DID 1 LocusLink:1054 MAP 1 19q13.12 NAM 1 CCAAT/enhancer binding protein (C/EBP), gamma ORG 1 Homo sapiens SYM 1 CEBPG ID|HUgn0001054 DID|LocusLink:1054 ORG|Homo sapiens RSQ|REFSEQ:NM_001806 RPA|REFPROT:NP_001797 DBA|XM:NM_001806 |NA:BC007582 |NA:BC013128 |NA:CB993585 |NA:U20240 |NA:none PAC|XP:NP_001797 SYM|CEBPG NAM|CCAAT/enhancer binding protein (C/EBP), gamma SYN|GPE1BP |IG/EBP-1 FNC|CCAAT/enhancer binding protein gamma |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer |element-mediated transcription. C/EBP proteins contain the bZIP region, which |is characterized by two motifs in the C-terminal half of the protein: a basic region |involved in DNA binding and a leucine zipper motif involved in dimerization. The |C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP |gamma, and C/EBP delta, that form homodimers and that form heterodimers with each |other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I |enhancer elements. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1054[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132847 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001806 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001806 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2227 DBL|UNIGENE:Hs.2227 |OMIM:138972 |SNP:1054 MAP|19q13.12 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 224; expect == 1.4e-59; MEOW:ref|XP_341843.1| (92%) |species == Mouse; gene == Cebpg; score == 222; expect == 3.5e-59; MEOW:MGgn0001293 (91%) |species == Zfish; gene == cebpg; score == 174; expect == 1.4e-44; MEOW:ZFgn0002423 (72%) } # EOR GENR { RETE|ID 1 HUgn0001055 CHR 1 22 DID 1 LocusLink:1055 MAP 1 22pter-q11 NAM 1 cat eye syndrome chromosome region ORG 1 Homo sapiens SYM 1 CECR ID|HUgn0001055 DID|LocusLink:1055 ORG|Homo sapiens SYM|CECR NAM|cat eye syndrome chromosome region SYN|CES REAB|A number sign (#) is used with this entry because a chromosomal abnormality is known |in this syndrome. However, because in many of the reported cases the abnormality |is in only a portion of the patients' cells, and because the mosaicism is sometimes |transmitted through several generations, mendelian factors may be important in its |causation. Cat eye syndrome (CES) is characterized clinically by the combination |of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, |preauricular tags and/or pits, frequent occurrence of heart and renal malformations, |and normal or near-normal mental development. A small supernumerary chromosome (smaller |than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and |represents an inv dup(22)(q11).[supplied by OMIM] CHR|22 DBL|OMIM:115470 MAP|22pter-q11 PHP|Cat eye syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119772 } # EOR GENR { RETE|ID 1 HUgn0001056 CHR 1 9 DID 1 LocusLink:1056 MAP 1 9q34.3 NAM 1 carboxyl ester lipase (bile salt-stimulated lipase) ORG 1 Homo sapiens SYM 1 CEL ID|HUgn0001056 DID|LocusLink:1056 ORG|Homo sapiens RSQ|REFSEQ:NM_001807 RPA|REFPROT:NP_001798 DBA|XM:NM_001807 |NA:AF072711 |NA:M94579 |NA:S40178 |NA:AF081673 |NA:BC042510 |NA:M85201 |NA:S70517 |NA:S79774 |NA:X54457 |NA:none PAC|XP:NP_001798 SYM|CEL NAM|carboxyl ester lipase (bile salt-stimulated lipase) SYN|BAL |FAP |BSDL |BSSL |FAPP |LIPA |CEase FNC|carboxyl ester lipase precursor |cholesterol catabolism ; GO:0006707 |lipid catabolism ; GO:0016042 REAB|The protein encoded by this gene is a glycoprotein secreted from the pancreas into |the digestive tract and from the lactating mammary gland into human milk. The physiological |role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis |and absorption. This encoded protein promotes large chylomicron production in the |intestine. Also its presence in plasma suggests its interactions with cholesterol |and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic |tumoral cells, this encoded protein is thought to be sequestrated within the Golgi |compartment and is probably not secreted. This gene contains a variable number of |tandem repeat (VNTR) polymorphism in the coding region that may influence the function |of the encoded protein. CHR|9 PRD|sterol esterase |cholesterol esterase |carboxyl ester hydrolase |bile salt-dependent lipase |bile-salt-activated lipase |bile salt-stimulated lipase |fetoacinar pancreatic protein |lysophospholipase, pancreatic |bile salt-stimulated carboxyl ester lipase |bile salt-dependent lipase, oncofetal isoform, included URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406160 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1056[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127527 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001807 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001807 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406160 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.406160 |OMIM:114840 |SNP:1056 ENZ|EC:3.1.1.3 |EC:3.1.1.13 |serine esterase activity ; GO:0004759 |hydrolase activity ; GO:0016787 |sterol esterase activity ; GO:0004771 MAP|9q34.3 HG|species == rat; score == 995; expect == 0.0; MEOW:ref|NP_058693.1| (77%) |species == Mouse; gene == Cel; score == 986; expect == 0.0; MEOW:MGgn0001295 (78%) |species == Human; gene == NLGN3; score == 284; expect == 1.5e-76; MEOW:HUgn0054413 (32%) |species == Human; gene == NLGN4; score == 283; expect == 2.5e-76; MEOW:HUgn0057502 (35%) |species == Human; gene == NLGN1; score == 275; expect == 5.2e-74; MEOW:HUgn0022871 (33%) |species == Human; gene == NLGN2; score == 270; expect == 2.9e-72; MEOW:HUgn0057555 (31%) |species == Mosquito; gene == LOC16929; score == 269; expect == 2.1e-72; MEOW:AGgn0016929 (32%) |species == Human; gene == ACHE; score == 265; expect == 5.4e-71; MEOW:HUgn0000043 (32%) |species == Human; gene == BCHE; score == 261; expect == 1.0e-69; MEOW:HUgn0000590 (32%) |species == Human; gene == NLGN4Y; score == 253; expect == 2.8e-67; MEOW:HUgn0022829 (38%) |species == Zfish; gene == ache; score == 248; expect == 5.9e-67; MEOW:ZFgn0002325 (30%) |species == Mosquito; gene == LOC8504; score == 240; expect == 1.8e-63; MEOW:AGgn0008504 (32%) |species == Mosquito; score == 240; expect == 1.3e-63; MEOW:AGgn0020022 (30%) |species == Worm; gene == ace-3; score == 236; expect == 3.1e-62; MEOW:CEgn0000005 (30%) |species == Human; gene == CES1; score == 234; expect == 1.3e-61; MEOW:HUgn0001066 (33%) |species == Worm; gene == ace-1; score == 231; expect == 5.9e-61; MEOW:CEgn0000003 (32%) |species == Fruitfly; gene == Ace; score == 229; expect == 3.3e-60; MEOW:FBgn0000024 (30%) |species == Worm; gene == ace-4; score == 226; expect == 2.5e-59; MEOW:CEgn0018964 (29%) |species == Mosquito; score == 225; expect == 3.4e-59; MEOW:AGgn0012206 (33%) |species == Fruitfly; gene == CG10175; score == 218; expect == 5.8e-57; MEOW:FBgn0039084 (30%) |species == Worm; gene == ace-2; score == 199; expect == 3.3e-51; MEOW:CEgn0000004 (30%) |species == Fruitfly; gene == Jhe; score == 199; expect == 3.6e-51; MEOW:FBgn0010052 (30%) |species == Worm; gene == T28C12.4a; score == 195; expect == 4.7e-50; MEOW:CEgn0017186 (27%) |species == Worm; gene == T28C12.4b; score == 195; expect == 4.7e-50; MEOW:CEgn0017187 (27%) |species == Fruitfly; gene == CG6414; score == 195; expect == 5.2e-50; MEOW:FBgn0029690 (28%) |species == Fruitfly; gene == Gli; score == 192; expect == 4.4e-49; MEOW:FBgn0001987 (27%) |species == Fruitfly; gene == CG6018; score == 188; expect == 4.9e-48; MEOW:FBgn0034736 (30%) |species == Fruitfly; gene == Est-P; score == 187; expect == 1.4e-47; MEOW:FBgn0000594 (31%) |species == Fruitfly; gene == Est-6; score == 184; expect == 7.1e-47; MEOW:FBgn0000592 (31%) |species == Fruitfly; gene == &agr;-Est10; score == 184; expect == 1.2e-46; MEOW:FBgn0015569 (32%) |species == Fruitfly; gene == neuroligin; score == 184; expect == 9.2e-47; MEOW:FBgn0031866 (29%) } # EOR GENR { RETE|ID 1 HUgn0001057 CHR 1 9 DID 1 LocusLink:1057 MAP 1 9q34.3 NAM 1 carboxyl ester lipase pseudogene ORG 1 Homo sapiens SYM 1 CELP ID|HUgn0001057 DID|LocusLink:1057 CLA|Pseudogene ORG|Homo sapiens DBA|XM:NR_001275 |NA:AF072711 |NA:M94580 |NA:L14813 SYM|CELP NAM|carboxyl ester lipase pseudogene SYN|CELL |cell1 |cell2 |cell3 |FLJ25862 CHR|9 PRD|CEL-like gene |bile salt-stimulated lipase-like |carboxyl ester lipase-like (bile salt-stimulated lipase-like) MAP|9q34.3 DBL|SNP:1057 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129029 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=L14813 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=L14813 PHP|Carboxyl ester lipase-like protein } # EOR GENR { RETE|ID 1 HUgn0001058 CHR 1 2 DID 1 LocusLink:1058 MAP 1 2p24-p21 NAM 1 centromere protein A, 17kDa ORG 1 Homo sapiens SYM 1 CENPA ID|HUgn0001058 DID|LocusLink:1058 ORG|Homo sapiens RSQ|REFSEQ:NM_001809 RPA|REFPROT:NP_001800 DBA|XM:NM_001809 |NA:U82609 |NA:BC000881 |NA:BC002703 |NA:BC011013 |NA:U14518 PAC|XP:NP_001800 SYM|CENPA NAM|centromere protein A, 17kDa FNC|centromere protein A |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 REAB|Centromeres are the differentiated chromosomal domains that specify the mitotic behavior |of chromosomes. CENPA encodes a centromere protein which contains a histone H3 |related histone fold domain that is required for targeting to the centromere. CENPA |is proposed to be a component of a modified nucleosome or nucleosome-like structure |in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 |tetrameric core of the nucleosome particle. CHR|2 PRD|centromere protein A (17kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1594 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1058[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118767 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001809 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001809 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1594 DBL|UNIGENE:Hs.1594 |OMIM:117139 |SNP:1058 MAP|2p24-p21 ENZ|chromatin binding ; GO:0003682 CEL|centromere ; GO:0005698 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cenpa; score == 130; expect == 2.1e-31; MEOW:MGgn0001297 (78%) } # EOR GENR { RETE|ID 1 HUgn0001059 CHR 1 20 DID 1 LocusLink:1059 MAP 1 20p13 NAM 1 centromere protein B, 80kDa ORG 1 Homo sapiens SYM 1 CENPB ID|HUgn0001059 DID|LocusLink:1059 ORG|Homo sapiens RSQ|REFSEQ:NM_001810 RPA|REFPROT:NP_001801 DBA|XM:NM_001810 |NA:AL109804 |NA:X55039 |NA:AF002713 |NA:AF002714 |NA:BC003649 |NA:BC012297 |NA:BC021577 |NA:BC040446 |NA:BC053847 |NA:X05299 |NA:none PAC|XP:NP_001801 SYM|CENPB NAM|centromere protein B, 80kDa FNC|centromere protein B |centromere/kinetochore complex maturation ; GO:0000069 REAB|This gene product is a highly conserved protein associated with the centromere. It |is a DNA-binding protein containing a helix-loop-helix DNA binding motif at the |N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain |recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric satellite |DNA. This protein is proposed to play an important role in the assembly of specific |centromere structures in interphase nuclei and on mitotic chromosomes. It is also |considered a major centromere autoantigen recognized by sera from patients with |anti-centromere antibodies. CHR|20 PRD|centromere autoantigen B |centromere protein B (80kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=85004 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1059[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118768 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001810 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001810 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=85004 DBL|UNIGENE:Hs.85004 |OMIM:117140 |SNP:1059 MAP|20p13 ENZ|satellite DNA binding ; GO:0003696 |chromatin binding ; GO:0003682 CEL|nucleus ; GO:0005634 |chromosome, pericentric region ; GO:0000775 HG|species == Mouse; gene == Cenpb; score == 851; expect == 0.0; MEOW:MGgn0001298 (89%) |species == rat; score == 698; expect == 0.0; MEOW:ref|XP_342522.1| (94%) |species == Human; gene == TIGD6; score == 203; expect == 2.8e-52; MEOW:HUgn0081789 (32%) |species == Human; gene == TIGD4; score == 176; expect == 3.6e-44; MEOW:HUgn0201798 (26%) } # EOR GENR { RETE|ID 1 HUgn0001060 CHR 1 4 DID 1 LocusLink:1060 MAP 1 4q12-q13.3 NAM 1 centromere protein C 1 ORG 1 Homo sapiens SYM 1 CENPC1 ID|HUgn0001060 DID|LocusLink:1060 ORG|Homo sapiens RSQ|REFSEQ:NM_001812 RPA|REFPROT:NP_001803 DBA|XM:NM_001812 |NA:BC041117 |NA:BX648166 |NA:M95724 |NA:none PAC|XP:NP_001803 SYM|CENPC1 NAM|centromere protein C 1 SYN|CENPC FNC|centromere protein C 1 REAB|Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore |plate. The protein is required for maintaining proper kinetochore size and a timely |transition to anaphase. A putative psuedogene exists on chromosome 12. CHR|4 PRD|Centromere autoantigen C1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388457 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1060[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9786127 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001812 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001812 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388457 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26398 DBL|UNIGENE:Hs.388457 |OMIM:117141 |SNP:1060 MAP|4q12-q13.3 ENZ|DNA binding ; GO:0003677 CEL|kinetochore ; GO:0005699 |nucleus ; GO:0005634 |chromosome, pericentric region ; GO:0000775 HG|species == rat; score == 772; expect == 0.0; MEOW:ref|XP_223310.2| (51%) |species == Mouse; gene == Cenpc; score == 736; expect == 0.0; MEOW:MGgn0001299 (49%) } # EOR GENR { RETE|ID 1 HUgn0001061 CHR 1 12 DID 1 LocusLink:1061 MAP 1 12q21.2-q21.3 NAM 1 centromere protein C2, 140kDa ORG 1 Homo sapiens SYM 1 CENPC2 ID|HUgn0001061 DID|LocusLink:1061 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC010201 SYM|CENPC2 NAM|centromere protein C2, 140kDa SYN|CENPC CHR|12 PRD|centromere protein C (140kD) 2 MAP|12q21.2-q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118769 } # EOR GENR { RETE|ID 1 HUgn0001062 CHR 1 4 DID 1 LocusLink:1062 MAP 1 4q24-q25 NAM 1 centromere protein E, 312kDa ORG 1 Homo sapiens SYM 1 CENPE ID|HUgn0001062 DID|LocusLink:1062 ORG|Homo sapiens RSQ|REFSEQ:NM_001813 RPA|REFPROT:NP_001804 DBA|XM:NM_001813 |NA:Z15005 |NA:none PAC|XP:NP_001804 SYM|CENPE NAM|centromere protein E, 312kDa SYN|KIF10 FNC|centromere protein E |mitotic metaphase plate congression ; GO:0007080 |mitotic chromosome movement ; GO:0007079 |DNA replication and chromosome cycle ; GO:0000067 |cytokinesis ; GO:0000910 REAB|Centrosome-associated protein E is a kinesin-like motor protein that accumulates |in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, |it is not present during interphase and first appears at the centromere region of |chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible |for mammalian chromosome movement and/or spindle elongation. CHR|4 PRD|kinesin family member 10 |centromere protein E (312kD) |Centromere autoantigen E (312kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1062[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:361164 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001813 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001813 DBL|UNIGENE:Hs.75573 |OMIM:117143 |SNP:1062 MAP|4q24-q25 ENZ|kinetochore motor activity ; GO:0008350 |ATP binding ; GO:0005524 CEL|kinetochore ; GO:0005699 |centromere ; GO:0005698 |microtubule associated complex ; GO:0005875 |nucleus ; GO:0005634 |chromosome, pericentric region ; GO:0000775 HG|species == rat; score == 2112; expect == 0.0; MEOW:ref|XP_342346.1| (52%) |species == Fruitfly; gene == cmet; score == 463; expect == 8e-130; MEOW:FBgn0040232 (24%) |species == Weed; gene == At3g10180; score == 422; expect == 1e-117; MEOW:ATgn0013607 (26%) |species == rice; score == 401; expect == 5e-111; MEOW:gnl|TIGR|8357.m02163 (32%) |species == Weed; gene == At1g59540; score == 342; expect == 3.9e-94; MEOW:ATgn0003671 (33%) |species == rice; score == 327; expect == 8.1e-89; MEOW:gnl|TIGR|8359.m03808 (21%) |species == Mosquito; gene == LOC13488; score == 316; expect == 4.0e-86; MEOW:AGgn0013488 (29%) |species == Human; gene == KNSL7; score == 306; expect == 7.1e-83; MEOW:HUgn0056992 (27%) |species == Human; gene == LOC285643; score == 305; expect == 8.7e-83; MEOW:HUgn0285643 (28%) |species == Mouse; gene == Kif4; score == 297; expect == 4.2e-80; MEOW:MGgn0006755 (26%) |species == Human; gene == KIF4A; score == 295; expect == 8.5e-80; MEOW:HUgn0024137 (27%) |species == Mouse; gene == Kif3a; score == 277; expect == 4.5e-74; MEOW:MGgn0006752 (39%) |species == Human; gene == KIF3B; score == 275; expect == 2.0e-73; MEOW:HUgn0009371 (35%) |species == Human; gene == KIF3A; score == 275; expect == 2.0e-73; MEOW:HUgn0011127 (38%) |species == Mosquito; gene == LOC22750; score == 274; expect == 2.0e-73; MEOW:AGgn0022750 (28%) |species == Human; gene == KIF5B; score == 274; expect == 2.0e-73; MEOW:HUgn0003799 (27%) |species == Human; gene == KIF5C; score == 274; expect == 4.5e-73; MEOW:HUgn0003800 (27%) |species == Mouse; gene == Kif3b; score == 274; expect == 3.9e-73; MEOW:MGgn0006753 (40%) |species == Mouse; gene == Kif5c; score == 272; expect == 1.1e-72; MEOW:MGgn0006758 (27%) |species == Worm; gene == osm-3; score == 267; expect == 4.9e-71; MEOW:CEgn0002285 (34%) |species == Worm; gene == klp-11; score == 266; expect == 8.4e-71; MEOW:CEgn0001072 (35%) |species == Mouse; gene == Kif5b; score == 265; expect == 1.2e-70; MEOW:MGgn0006757 (27%) |species == Human; gene == KIF5A; score == 264; expect == 6.1e-70; MEOW:HUgn0003798 (27%) |species == Human; gene == KIF17; score == 264; expect == 4.7e-70; MEOW:HUgn0057576 (37%) |species == Mouse; gene == Kif17; score == 262; expect == 1.5e-69; MEOW:MGgn0006743 (40%) |species == Mouse; gene == Kif5a; score == 260; expect == 5.8e-69; MEOW:MGgn0006756 (27%) |species == Mosquito; gene == LOC17737; score == 259; expect == 1.1e-68; MEOW:AGgn0017737 (39%) |species == Worm; gene == klp-20; score == 250; expect == 8.1e-66; MEOW:CEgn0025922 (34%) |species == Mouse; gene == Kif13a; score == 243; expect == 9.5e-64; MEOW:MGgn0006737 (39%) |species == Mouse; gene == Kif3c; score == 240; expect == 6.2e-63; MEOW:MGgn0006754 (40%) |species == Worm; gene == klp-19; score == 238; expect == 1.9e-62; MEOW:CEgn0018637 (25%) |species == Yeast; gene == KIP1; score == 235; expect == 1.2e-61; MEOW:SGgn0000159 (26%) |species == Worm; gene == unc-116; score == 234; expect == 4.6e-61; MEOW:CEgn0002994 (42%) |species == Zfish; gene == kif11; score == 233; expect == 5.7e-62; MEOW:ZFgn0002546 (27%) |species == Worm; gene == unc-104; score == 229; expect == 8.7e-60; MEOW:CEgn0002984 (37%) |species == Worm; gene == klp-4; score == 228; expect == 2.5e-59; MEOW:CEgn0001067 (35%) |species == Worm; gene == klp-18; score == 226; expect == 4.7e-59; MEOW:CEgn0004246 (25%) |species == Yeast; gene == KIP3; score == 223; expect == 4.3e-58; MEOW:SGgn0003184 (37%) |species == Worm; gene == klp-6; score == 219; expect == 1.5e-56; MEOW:CEgn0001068 (33%) |species == Yeast; gene == MLP2; score == 206; expect == 1.2e-52; MEOW:SGgn0001411 (21%) |species == Zfish; gene == kifc1; score == 187; expect == 4.7e-48; MEOW:ZFgn0000700 (42%) } # EOR GENR { RETE|ID 1 HUgn0001063 CHR 1 1 DID 1 LocusLink:1063 MAP 1 1q32-q41 NAM 1 centromere protein F, 350/400ka (mitosin) ORG 1 Homo sapiens SYM 1 CENPF ID|HUgn0001063 DID|LocusLink:1063 ORG|Homo sapiens RSQ|REFSEQ:NM_016343 RPA|REFPROT:NP_057427 DBA|XM:NM_016343 |NA:AF118076 |NA:U19769 |NA:U25725 |NA:U30872 PAC|XP:NP_057427 SYM|CENPF NAM|centromere protein F, 350/400ka (mitosin) SYN|CENF |PRO1779 FNC|centromere protein F (350/400kD) |regulation of mitosis ; GO:0007088 |DNA replication and chromosome cycle ; GO:0000067 |mitosis ; GO:0007067 REAB|This gene encodes a protein that associates with the centromere-kinetochore complex. |The protein is a component of the nuclear matrix during the G2 phase of interphase. |In late G2 the protein associates with the kinetochore and maintains this association |through early anaphase. It localizes to the spindle midzone and the intracellular |bridge in late anaphase and telophase, respectively, and is thought to be subsequently |degraded. The localization of this protein suggests that it may play a role in chromosome |segregation during mitotis. It is thought to form either a homodimer or heterodimer. |Autoantibodies against this protein have been found in patients with cancer or graft |versus host disease. CHR|1 PRD|mitosin |AH antigen |CENP-F kinetochore protein |centromere protein F (400kD) |cell-cycle-dependent 350K nuclear protein |centromere protein F (350/400kD, mitosin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77204 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1063[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:361165 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016343 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016343 DBL|UNIGENE:Hs.77204 |OMIM:600236 |SNP:1063 MAP|1q32-q41 CEL|spindle ; GO:0005819 |kinetochore ; GO:0005699 |nucleus ; GO:0005634 HG|species == rat; score == 2993; expect == 0.0; MEOW:ref|XP_223060.2| (63%) |species == Human; gene == GOLGB1; score == 214; expect == 8.5e-55; MEOW:HUgn0002804 (19%) |species == Human; gene == GOLGA4; score == 202; expect == 2.6e-51; MEOW:HUgn0002803 (19%) |species == Human; gene == CENPE; score == 186; expect == 1.5e-46; MEOW:HUgn0001062 (20%) |species == rice; score == 186; expect == 2.1e-46; MEOW:gnl|TIGR|8360.m00546 (21%) |species == rice; score == 174; expect == 1.3e-42; MEOW:gnl|TIGR|8352.m04868 (20%) |species == rice; score == 171; expect == 3.0e-42; MEOW:gnl|TIGR|8350.m04297 (23%) |species == Weed; gene == At5g41790; score == 168; expect == 5.3e-41; MEOW:ATgn0021953 (20%) |species == Yeast; gene == USO1; score == 166; expect == 5.6e-41; MEOW:SGgn0002216 (22%) |species == Fruitfly; gene == CLIP-190; score == 164; expect == 5.8e-40; MEOW:FBgn0020503 (21%) |species == Mosquito; score == 159; expect == 1.4e-38; MEOW:AGgn0009410 (22%) |species == Yeast; gene == MLP1; score == 159; expect == 5.2e-39; MEOW:SGgn0001803 (20%) |species == Worm; gene == hcp-1; score == 156; expect == 1.4e-37; MEOW:CEgn0022768 (20%) |species == Mouse; gene == Golga3; score == 147; expect == 4.9e-35; MEOW:MGgn0004848 (21%) |species == Fruitfly; gene == zip; score == 146; expect == 1.6e-34; MEOW:FBgn0005634 (20%) |species == Worm; gene == T10G3.5; score == 142; expect == 2.1e-33; MEOW:CEgn0016010 (20%) |species == Weed; gene == At1g65010; score == 141; expect == 9.1e-33; MEOW:ATgn0003462 (21%) |species == Mouse; gene == Myh11; score == 141; expect == 3.5e-33; MEOW:MGgn0008117 (20%) |species == Weed; gene == At4g27595; score == 140; expect == 4.5e-33; MEOW:ATgn0029669 (23%) |species == Mouse; gene == Myh7; score == 139; expect == 1.3e-32; MEOW:MGgn0040144 (20%) |species == Mouse; gene == Myh6; score == 136; expect == 1.5e-31; MEOW:MGgn0008125 (21%) |species == Worm; gene == C02F12.7; score == 133; expect == 6.6e-31; MEOW:CEgn0003845 (21%) } # EOR GENR { RETE|ID 1 HUgn0001064 DID 1 LocusLink:1064 NAM 1 congenital episodic primary apnea ORG 1 Homo sapiens SYM 1 CEPA ID|HUgn0001064 DID|LocusLink:1064 ORG|Homo sapiens SYM|CEPA NAM|congenital episodic primary apnea URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:581848 } # EOR GENR { RETE|ID 1 HUgn0001066 CHR 1 16 DID 1 LocusLink:1066 MAP 1 16q13-q22.1 NAM 1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) ORG 1 Homo sapiens SYM 1 CES1 ID|HUgn0001066 DID|LocusLink:1066 ORG|Homo sapiens RSQ|REFSEQ:NM_001266 RPA|REFPROT:NP_001257 DBA|XM:NM_001266 |NA:AY033590 |NA:D21088 |NA:AB025026 |NA:AB119995 |NA:AB119996 |NA:AF177775 |NA:AY268104 |NA:BC009706 |NA:BC012418 |NA:L07764 |NA:L07765 |NA:M55509 |NA:M65261 |NA:M73499 |NA:S73751 |NA:X52973 |NA:none PAC|XP:NP_001257 SYM|CES1 NAM|carboxylesterase 1 (monocyte/macrophage serine esterase 1) SYN|CEH |CES2 |HMSE |SES1 |HMSE1 FNC|carboxylesterase 1 (monocyte/macrophage serine esterase 1) |response to toxin ; GO:0009636 |metabolism ; GO:0008152 REAB|Carboxylesterase 1 is a member of a large multigene family. The enzymes encoded |by these genes are responsible for the hydrolysis of ester- and amide-bond-containing |drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters |and thioesters. This enzyme is known to hydrolyze aromatic and aliphatic esters |and is necessary for cellular cholesterol esterification. It may also play a role |in detoxification in the lung and/or protection of the central nervous system from |ester or amide compounds. Carboxylesterase deficiency may be associated with non-Hodgkin |lymphoma or B-cell lymphocytic leukemia. CHR|16 PRD|egasyn |liver carboxylesterase |carboxylesterase 2 (liver) |cholesteryl ester hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=499222 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1066[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128044 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001266 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001266 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=499222 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA107 DBL|UNIGENE:Hs.499222 |OMIM:114835 |SNP:1066 ENZ|EC:3.1.1.1 |serine esterase activity ; GO:0004759 |hydrolase activity ; GO:0016787 MAP|16q13-q22.1 CEL|endoplasmic reticulum ; GO:0005783 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Ces3; score == 905; expect == 0.0; MEOW:MGgn0038823 (77%) |species == Mouse; gene == Ces1; score == 865; expect == 0.0; MEOW:MGgn0001306 (73%) |species == rat; score == 859; expect == 0.0; MEOW:ref|XP_212837.2| (73%) |species == Mouse; gene == Es22; score == 844; expect == 0.0; MEOW:MGgn0003987 (74%) |species == rat; score == 835; expect == 0.0; MEOW:ref|NP_113753.1| (74%) |species == Mouse; gene == Es1; score == 743; expect == 0.0; MEOW:MGgn0003974 (64%) |species == rat; score == 714; expect == 0.0; MEOW:ref|XP_343652.1| (66%) |species == Human; gene == CESR; score == 504; expect == 5e-143; MEOW:HUgn0051716 (92%) |species == Human; gene == CES2; score == 468; expect == 4e-132; MEOW:HUgn0008824 (46%) |species == Mosquito; gene == LOC16929; score == 242; expect == 2.6e-64; MEOW:AGgn0016929 (33%) |species == Worm; gene == ace-1; score == 222; expect == 4.3e-58; MEOW:CEgn0000003 (30%) |species == Mosquito; gene == LOC17371; score == 218; expect == 8.2e-57; MEOW:AGgn0017371 (33%) |species == Mosquito; gene == LOC10402; score == 216; expect == 2.1e-56; MEOW:AGgn0010402 (29%) |species == Mosquito; gene == LOC21802; score == 210; expect == 8.4e-55; MEOW:AGgn0021802 (30%) |species == Zfish; gene == ache; score == 210; expect == 7.7e-56; MEOW:ZFgn0002325 (31%) |species == Mosquito; gene == LOC17380; score == 209; expect == 2.1e-54; MEOW:AGgn0017380 (33%) |species == Fruitfly; gene == CG6414; score == 208; expect == 1.0e-53; MEOW:FBgn0029690 (29%) |species == Fruitfly; gene == CG31146; score == 208; expect == 3.3e-54; MEOW:FBgn0051146 (29%) |species == Worm; gene == ace-4; score == 204; expect == 5.7e-53; MEOW:CEgn0018964 (30%) |species == Fruitfly; gene == Gli; score == 204; expect == 6.3e-53; MEOW:FBgn0001987 (28%) |species == Mosquito; gene == LOC8504; score == 202; expect == 4.1e-52; MEOW:AGgn0008504 (30%) |species == Mosquito; gene == LOC14256; score == 200; expect == 8.7e-52; MEOW:AGgn0014256 (30%) |species == Mosquito; gene == LOC16214; score == 198; expect == 5.8e-51; MEOW:AGgn0016214 (32%) |species == Worm; gene == C52A10.1; score == 198; expect == 7.4e-51; MEOW:CEgn0006956 (31%) |species == Fruitfly; gene == CG10175; score == 198; expect == 5.9e-51; MEOW:FBgn0039084 (29%) |species == Worm; gene == F13H6.3; score == 197; expect == 1.7e-50; MEOW:CEgn0008373 (31%) |species == Worm; gene == ges-1; score == 196; expect == 3.8e-50; MEOW:CEgn0000751 (28%) |species == Worm; gene == F15A8.6; score == 196; expect == 3.8e-50; MEOW:CEgn0008517 (31%) |species == Mosquito; score == 195; expect == 5.3e-50; MEOW:AGgn0020497 (30%) |species == Worm; gene == C52A10.2; score == 191; expect == 8.4e-49; MEOW:CEgn0006957 (31%) |species == Worm; gene == Y71H2AM.13; score == 191; expect == 1.2e-48; MEOW:CEgn0028773 (32%) |species == Fruitfly; gene == CG4757; score == 189; expect == 4.5e-48; MEOW:FBgn0027584 (31%) |species == Worm; gene == ace-3; score == 185; expect == 3.5e-47; MEOW:CEgn0000005 (29%) |species == Fruitfly; gene == &agr;-Est7; score == 185; expect == 5.1e-47; MEOW:FBgn0015575 (31%) |species == Worm; gene == B0238.1; score == 184; expect == 7.9e-47; MEOW:CEgn0003260 (30%) |species == Worm; gene == T28C12.4a; score == 181; expect == 1.2e-45; MEOW:CEgn0017186 (28%) |species == Worm; gene == T28C12.4b; score == 181; expect == 1.0e-45; MEOW:CEgn0017187 (28%) |species == Fruitfly; gene == CG10339; score == 181; expect == 1.1e-45; MEOW:FBgn0034972 (26%) |species == Worm; gene == ace-2; score == 179; expect == 3.2e-45; MEOW:CEgn0000004 (28%) |species == Worm; gene == F56C11.6a; score == 179; expect == 2.7e-45; MEOW:CEgn0032190 (29%) |species == Fruitfly; gene == CG4382; score == 179; expect == 3.9e-45; MEOW:FBgn0032132 (28%) |species == Fruitfly; gene == clt; score == 177; expect == 8.2e-45; MEOW:FBgn0000326 (29%) |species == Fruitfly; gene == CG5397; score == 174; expect == 1.9e-43; MEOW:FBgn0031327 (28%) |species == Fruitfly; gene == CG6018; score == 172; expect == 3.5e-43; MEOW:FBgn0034736 (28%) |species == Fruitfly; gene == &agr;-Est10; score == 171; expect == 7.5e-43; MEOW:FBgn0015569 (30%) |species == Fruitfly; gene == &agr;-Est8; score == 171; expect == 1.3e-42; MEOW:FBgn0015576 (31%) |species == Fruitfly; gene == neuroligin; score == 170; expect == 1.3e-42; MEOW:FBgn0031866 (35%) |species == Fruitfly; gene == CG3841; score == 168; expect == 6.5e-42; MEOW:FBgn0032131 (28%) } # EOR GENR { RETE|ID 1 HUgn0001068 CHR 1 18 DID 1 LocusLink:1068 MAP 1 18p11.32 NAM 1 centrin, EF-hand protein, 1 ORG 1 Homo sapiens SYM 1 CETN1 ID|HUgn0001068 DID|LocusLink:1068 ORG|Homo sapiens RSQ|REFSEQ:NM_004066 RPA|REFPROT:NP_004057 DBA|XM:NM_004066 |NA:BC029515 |NA:U03270 |NA:none PAC|XP:NP_004057 SYM|CETN1 NAM|centrin, EF-hand protein, 1 SYN|CEN1 |CETN FNC|centrin 1 |centrosome separation ; GO:0007100 |mitosis ; GO:0007067 |cytokinesis ; GO:0000910 REAB|CETN1 encodes centrin 1, which plays important roles in the determination of centrosome |position and segregation, and in the process of microtubule severing. Centrin 1 |contains 4 putative EF-hand calcium-binding domains, is localized to the centrosome |of interphase cells, and redistributes to the region of the spindle poles during |mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. CHR|18 PRD|Centrin-1 |EF-hand protein |calcium binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=122511 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1068[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573957 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004066 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004066 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=122511 DBL|UNIGENE:Hs.122511 |OMIM:603187 |SNP:1068 MAP|18p11.32 ENZ|calcium ion binding ; GO:0005509 CEL|spindle pole body ; GO:0005816 |centrosome ; GO:0005813 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Cetn1; score == 308; expect == 1.2e-84; MEOW:MGgn0001309 (90%) |species == rat; score == 307; expect == 2.8e-84; MEOW:ref|XP_344647.1| (90%) |species == Mouse; gene == Cetn2; score == 299; expect == 3.8e-82; MEOW:MGgn0001310 (84%) |species == Human; gene == CETN2; score == 295; expect == 6.3e-81; MEOW:HUgn0001069 (83%) |species == rat; score == 288; expect == 1.0e-78; MEOW:ref|XP_215222.2| (84%) |species == Mosquito; score == 247; expect == 1.1e-66; MEOW:AGgn0025334 (80%) |species == Fruitfly; gene == CG17493; score == 235; expect == 2.2e-62; MEOW:FBgn0040010 (71%) |species == Fruitfly; gene == CG31802; score == 197; expect == 1.8e-51; MEOW:FBgn0051802 (57%) |species == Weed; gene == At3g50360; score == 189; expect == 8.1e-49; MEOW:ATgn0015940 (55%) |species == rice; score == 181; expect == 4.7e-46; MEOW:gnl|TIGR|8355.m04064 (53%) |species == Weed; gene == At4g37010; score == 173; expect == 3.4e-44; MEOW:ATgn0019352 (51%) |species == rice; score == 172; expect == 2.2e-43; MEOW:gnl|TIGR|8362.m01858 (53%) |species == Yeast; gene == CDC31; score == 166; expect == 1.8e-42; MEOW:SGgn0005783 (58%) |species == Weed; gene == At2g27030; score == 154; expect == 1.7e-38; MEOW:ATgn0009867 (52%) |species == Weed; gene == At2g41110; score == 154; expect == 1.7e-38; MEOW:ATgn0010864 (52%) |species == Weed; gene == At3g43810; score == 154; expect == 2.2e-38; MEOW:ATgn0015991 (52%) |species == Weed; gene == At3g56800; score == 154; expect == 1.7e-38; MEOW:ATgn0016412 (52%) |species == Worm; gene == cmd-1; score == 154; expect == 2.1e-38; MEOW:CEgn0016585 (54%) |species == Weed; gene == At1g66410; score == 153; expect == 2.9e-38; MEOW:ATgn0005396 (52%) |species == Weed; gene == At5g37780; score == 153; expect == 2.9e-38; MEOW:ATgn0023866 (52%) |species == rice; score == 153; expect == 1.1e-37; MEOW:gnl|TIGR|8350.m01625 (51%) |species == rice; score == 153; expect == 1.5e-37; MEOW:gnl|TIGR|8355.m04670 (52%) |species == rice; score == 153; expect == 2.9e-38; MEOW:gnl|TIGR|8360.m01876 (52%) |species == Weed; gene == At5g21274; score == 152; expect == 6.4e-38; MEOW:ATgn0030554 (51%) |species == rice; score == 152; expect == 2.3e-37; MEOW:gnl|TIGR|8353.m03662 (51%) |species == rice; score == 151; expect == 1.7e-37; MEOW:gnl|TIGR|8350.m05576 (51%) |species == rice; score == 150; expect == 2.3e-37; MEOW:gnl|TIGR|8350.m01531 (52%) } # EOR GENR { RETE|ID 1 HUgn0001069 CHR 1 X DID 1 LocusLink:1069 MAP 1 Xq28 NAM 1 centrin, EF-hand protein, 2 ORG 1 Homo sapiens SYM 1 CETN2 ID|HUgn0001069 DID|LocusLink:1069 ORG|Homo sapiens RSQ|REFSEQ:NM_004344 RPA|REFPROT:NP_004335 DBA|XM:NM_004344 |NA:BC005334 |NA:BC013873 |NA:X72964 |NA:none PAC|XP:NP_004335 SYM|CETN2 NAM|centrin, EF-hand protein, 2 SYN|CALT |CEN2 FNC|caltractin |mitosis ; GO:0007067 |cytokinesis ; GO:0000910 REAB|Caltractin belongs to a family of calcium-binding proteins and is a structural component |of the centrosome. The high level of conservation from algae to humans and its |association with the centrosome suggested that caltractin plays a fundamental role |in the structure and function of the microtubule-organizing center, possibly required |for the proper duplication and segregation of the centrosome. CHR|X PRD|Caltractin |caltractin (20kD calcium-binding protein) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82794 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1069[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269853 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004344 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004344 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82794 DBL|UNIGENE:Hs.82794 |OMIM:300006 |SNP:1069 MAP|Xq28 ENZ|calcium ion binding ; GO:0005509 CEL|centrosome ; GO:0005813 HG|species == Human; gene == CETN1; score == 295; expect == 6.3e-81; MEOW:HUgn0001068 (83%) |species == rat; score == 293; expect == 3.2e-80; MEOW:ref|XP_344647.1| (82%) |species == Mouse; gene == Cetn1; score == 292; expect == 7.0e-80; MEOW:MGgn0001309 (81%) |species == Mouse; gene == Cetn2; score == 287; expect == 1.5e-78; MEOW:MGgn0001310 (95%) |species == rat; score == 278; expect == 1.1e-75; MEOW:ref|XP_215222.2| (96%) |species == Fruitfly; gene == CG17493; score == 236; expect == 7.6e-63; MEOW:FBgn0040010 (72%) |species == Mosquito; score == 220; expect == 1.9e-58; MEOW:AGgn0025334 (82%) |species == Fruitfly; gene == CG31802; score == 196; expect == 4.7e-51; MEOW:FBgn0051802 (64%) |species == Weed; gene == At3g50360; score == 186; expect == 5.2e-48; MEOW:ATgn0015940 (58%) |species == rice; score == 179; expect == 2.2e-45; MEOW:gnl|TIGR|8355.m04064 (53%) |species == Weed; gene == At4g37010; score == 172; expect == 9.9e-44; MEOW:ATgn0019352 (49%) |species == rice; score == 172; expect == 9.5e-43; MEOW:gnl|TIGR|8362.m01858 (53%) |species == Yeast; gene == CDC31; score == 169; expect == 4.6e-43; MEOW:SGgn0005783 (61%) |species == Worm; gene == cmd-1; score == 151; expect == 1.1e-37; MEOW:CEgn0016585 (52%) |species == Weed; gene == At1g66410; score == 150; expect == 3.2e-37; MEOW:ATgn0005396 (49%) |species == Weed; gene == At5g37780; score == 150; expect == 3.2e-37; MEOW:ATgn0023866 (49%) |species == rice; score == 148; expect == 9.3e-37; MEOW:gnl|TIGR|8353.m03662 (48%) |species == rice; score == 147; expect == 2.8e-36; MEOW:gnl|TIGR|8350.m01625 (48%) |species == rice; score == 147; expect == 1.1e-35; MEOW:gnl|TIGR|8355.m04670 (48%) |species == rice; score == 147; expect == 2.1e-36; MEOW:gnl|TIGR|8360.m01876 (48%) |species == rice; score == 146; expect == 7.3e-36; MEOW:gnl|TIGR|8350.m05576 (48%) |species == rice; score == 144; expect == 1.7e-35; MEOW:gnl|TIGR|8350.m01531 (48%) } # EOR GENR { RETE|ID 1 HUgn0001070 CHR 1 5 DID 1 LocusLink:1070 MAP 1 5q14.3 NAM 1 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) ORG 1 Homo sapiens SYM 1 CETN3 ID|HUgn0001070 DID|LocusLink:1070 ORG|Homo sapiens RSQ|REFSEQ:NM_004365 RPA|REFPROT:NP_004356 DBA|XM:NM_004365 |NA:BC005383 |NA:Y12473 |NA:none PAC|XP:NP_004356 SYM|CETN3 NAM|centrin, EF-hand protein, 3 (CDC31 homolog, yeast) SYN|CEN3 FNC|centrin 3 |centrosome cycle ; GO:0007098 |mitosis ; GO:0007067 |cytokinesis ; GO:0000910 REAB|CETN3 encodes centrin 3, an acidic and slow-migrating isoform and a member of the |calcium-binding EF-hand protein superfamily. As many as 10 centrin isoforms may |exist in humans, but immunofluorescence and cell fractionation studies reveal that |most centrin is not associated with the centrosomes. Centrin 3, which is highly |enriched in the centrosome fraction of cell extracts, is concentrated in the distal |lumen of centrioles, migrates at 23 kD, and specifically reacts with antibodies |against yeast Cdc31p. Centrin 3 appears to represent the most abundant centrosomal |isoform and may be involved in centrosome duplication. CHR|5 PRD|EF-hand protein superfamily member |centrin, EF-hand protein, 3 (CDC31 yeast homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=128073 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1070[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6837725 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004365 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004365 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=128073 DBL|UNIGENE:Hs.128073 |OMIM:602907 |SNP:1070 MAP|5q14.3 ENZ|calcium ion binding ; GO:0005509 CEL|centriole ; GO:0005814 HG|species == Mouse; gene == Cetn3; score == 325; expect == 6.2e-90; MEOW:MGgn0001311 (98%) |species == rat; score == 325; expect == 9.2e-90; MEOW:ref|XP_342169.1| (98%) |species == Human; gene == CETN1; score == 185; expect == 8.7e-48; MEOW:HUgn0001068 (58%) |species == Human; gene == CETN2; score == 183; expect == 3.3e-47; MEOW:HUgn0001069 (56%) |species == Yeast; gene == CDC31; score == 182; expect == 2.3e-47; MEOW:SGgn0005783 (61%) |species == Mosquito; score == 176; expect == 3.1e-45; MEOW:AGgn0025334 (57%) |species == Fruitfly; gene == CG17493; score == 170; expect == 2.3e-43; MEOW:FBgn0040010 (55%) |species == Weed; gene == At3g50360; score == 149; expect == 5.3e-37; MEOW:ATgn0015940 (47%) |species == rice; score == 142; expect == 1.8e-34; MEOW:gnl|TIGR|8355.m04064 (44%) |species == Fruitfly; gene == CG31802; score == 140; expect == 2.6e-34; MEOW:FBgn0051802 (43%) |species == rice; score == 136; expect == 1.7e-32; MEOW:gnl|TIGR|8362.m01858 (43%) |species == Weed; gene == At4g37010; score == 133; expect == 5.1e-32; MEOW:ATgn0019352 (42%) } # EOR GENR { RETE|ID 1 HUgn0001071 CHR 1 16 DID 1 LocusLink:1071 MAP 1 16q21 NAM 1 cholesteryl ester transfer protein, plasma ORG 1 Homo sapiens SYM 1 CETP ID|HUgn0001071 DID|LocusLink:1071 ORG|Homo sapiens RSQ|REFSEQ:NM_000078 RPA|REFPROT:NP_000069 DBA|XM:NM_000078 |NA:AF027656 |NA:M32998 |NA:U71187 |NA:BC025739 |NA:M30185 |NA:M83573 |NA:none PAC|XP:NP_000069 SYM|CETP NAM|cholesteryl ester transfer protein, plasma FNC|cholesteryl ester transfer protein, plasma precursor |lipid transport ; GO:0006869 |cholesterol metabolism ; GO:0008203 |lipid metabolism ; GO:0006629 REAB|Cholestery ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89538 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119773 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000078 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000078 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89538 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA108 DBL|UNIGENE:Hs.89538 |OMIM:118470 |SNP:1071 MAP|16q21 PHP|CETP deficiency ENZ|lipid binding ; GO:0008289 |catalytic activity ; GO:0003824 } # EOR GENR { RETE|ID 1 HUgn0001072 CHR 1 11 DID 1 LocusLink:1072 MAP 1 11q13 NAM 1 cofilin 1 (non-muscle) ORG 1 Homo sapiens SYM 1 CFL1 ID|HUgn0001072 DID|LocusLink:1072 ORG|Homo sapiens RSQ|REFSEQ:NM_005507 RPA|REFPROT:NP_005498 DBA|XM:NM_005507 |NA:AK097690 |NA:AK123187 |NA:BC011005 |NA:BC012265 |NA:BC012318 |NA:BC018256 |NA:BC024975 |NA:D00682 |NA:U21909 |NA:X95404 |NA:none PAC|XP:NP_005498 SYM|CFL1 NAM|cofilin 1 (non-muscle) SYN|CFL FNC|cofilin 1 (non-muscle) |Rho protein signal transduction ; GO:0007266 |actin cytoskeleton organization and biogenesis ; GO:0030036 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170622 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1072[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126798 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005507 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005507 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170622 DBL|UNIGENE:Hs.170622 |OMIM:601442 |SNP:1072 MAP|11q13 ENZ|actin modulating activity ; GO:0003790 CEL|cytoskeleton ; GO:0005856 |nucleus ; GO:0005634 HG|species == rat; score == 328; expect == 6.3e-91; MEOW:ref|NP_058843.1| (99%) |species == Mouse; gene == Cfl1; score == 327; expect == 1.4e-90; MEOW:MGgn0001317 (98%) |species == rat; score == 307; expect == 2.6e-84; MEOW:ref|XP_236624.2| (94%) |species == rat; score == 284; expect == 1.8e-77; MEOW:ref|XP_219433.2| (86%) |species == Mouse; gene == Cfl2; score == 275; expect == 1.1e-74; MEOW:MGgn0001318 (81%) |species == Human; gene == CFL2; score == 273; expect == 2.4e-74; MEOW:HUgn0001073 (80%) |species == rat; score == 273; expect == 4.1e-74; MEOW:ref|XP_345675.1| (81%) |species == Human; gene == DSTN; score == 237; expect == 1.9e-63; MEOW:HUgn0011034 (71%) } # EOR GENR { RETE|ID 1 HUgn0001073 CHR 1 14 DID 1 LocusLink:1073 MAP 1 14q12 NAM 1 cofilin 2 (muscle) ORG 1 Homo sapiens SYM 1 CFL2 ID|HUgn0001073 DID|LocusLink:1073 ORG|Homo sapiens RSQ|REFSEQ:NM_021914 |REFSEQ:NM_138638 RPA|REFPROT:NP_068733 |REFPROT:NP_619579 DBA|XM:NM_021914 |NA:AF242299 |NA:AF283513 |NA:AF087867 |NA:AF134802 |NA:AF134803 |NA:AI754134 |NA:AL117457 |NA:BC011444 |NA:BC022364 |NA:BC022876 |NA:BC025683 |NA:none PAC|XP:NP_068733 SYM|CFL2 NAM|cofilin 2 (muscle) FNC|cofilin 2 CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=180141 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1073[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595527 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138638 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138638 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=180141 DBL|UNIGENE:Hs.180141 |OMIM:601443 |SNP:1073 MAP|14q12 ENZ|actin binding ; GO:0003779 CEL|cytoskeleton ; GO:0005856 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cfl2; score == 328; expect == 5.6e-91; MEOW:MGgn0001318 (99%) |species == rat; score == 326; expect == 3.1e-90; MEOW:ref|XP_345675.1| (99%) |species == rat; score == 275; expect == 6.3e-75; MEOW:ref|NP_058843.1| (81%) |species == Mouse; gene == Cfl1; score == 274; expect == 1.4e-74; MEOW:MGgn0001317 (80%) |species == Human; gene == CFL1; score == 273; expect == 2.4e-74; MEOW:HUgn0001072 (80%) |species == Human; gene == DSTN; score == 230; expect == 3.0e-61; MEOW:HUgn0011034 (68%) } # EOR GENR { RETE|ID 1 HUgn0001074 DID 1 LocusLink:1074 NAM 1 cofilin-like 1 ORG 1 Homo sapiens SYM 1 CFLL1 ID|HUgn0001074 DID|LocusLink:1074 ORG|Homo sapiens SYM|CFLL1 NAM|cofilin-like 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127445 } # EOR GENR { RETE|ID 1 HUgn0001075 CHR 1 11 DID 1 LocusLink:1075 MAP 1 11q14.1-q14.3 NAM 1 cathepsin C ORG 1 Homo sapiens SYM 1 CTSC ID|HUgn0001075 DID|LocusLink:1075 ORG|Homo sapiens RSQ|REFSEQ:NM_001814 |REFSEQ:NM_148170 RPA|REFPROT:NP_001805 |REFPROT:NP_680475 DBA|XM:NM_001814 |XM:NM_148170 |NA:U79415 |NA:AA011305 |NA:AF234263 |NA:AF234264 |NA:AF254757 |NA:AU076460 |NA:BC023559 |NA:BC054028 |NA:X87212 |NA:none |NA:BC008059 PAC|XP:NP_001805 |XP:NP_680475 SYM|CTSC NAM|cathepsin C SYN|HMS |PLS |CPPI |DPP1 |DPPI |PALS FNC|cathepsin C isoform a preproprotein |cathepsin C isoform b precursor |proteolysis and peptidolysis ; GO:0006508 |immune response ; GO:0006955 REAB|The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal |cysteine proteinase that appears to be a central coordinator for activation of many |serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked |heavy and light chains, both produced from a single protein precursor. It requires |chloride ions for activity and can degrade glucagon. Defects in the encoded protein |have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive |disorder characterized by palmoplantar keratosis and periodontitis. Two transcript |variants encoding different isoforms have been found for this gene. CHR|11 PRD|cathepsin J |dipeptidyl transferase |dipeptidyl-peptidase I |Papillon-Lefevre syndrome URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=128065 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1075[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642234 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001814 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001814 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=128065 DBL|UNIGENE:Hs.128065 |OMIM:602365 |SNP:1075 |UWCM:642234.html ENZ|EC:3.4.14.1 |cysteine-type endopeptidase activity ; GO:0004197 |dipeptidyl-peptidase I activity ; GO:0004214 |hydrolase activity ; GO:0016787 MAP|11q14.1-q14.3 PHP|Haim-Munk syndrome |Papillon-Lefevre syndrome CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Ctsc; score == 761; expect == 0.0; MEOW:MGgn0001752 (77%) |species == rat; score == 761; expect == 0.0; MEOW:ref|NP_058793.1| (80%) |species == Worm; gene == cpr-4; score == 150; expect == 1.0e-36; MEOW:CEgn0000290 (35%) |species == Human; gene == CTSH; score == 148; expect == 7.2e-36; MEOW:HUgn0001512 (39%) |species == Worm; gene == cpr-6; score == 142; expect == 2.1e-34; MEOW:CEgn0000292 (31%) |species == Worm; gene == W07B8.4; score == 142; expect == 2.0e-34; MEOW:CEgn0017721 (32%) |species == Weed; gene == At1g02305; score == 141; expect == 1.1e-33; MEOW:ATgn0027114 (31%) |species == rice; score == 140; expect == 4.3e-33; MEOW:gnl|TIGR|8353.m02062 (30%) |species == Weed; gene == At4g01610; score == 139; expect == 2.6e-33; MEOW:ATgn0017528 (32%) |species == Worm; gene == cpr-5; score == 137; expect == 6.6e-33; MEOW:CEgn0000291 (30%) |species == Mosquito; gene == LOC20785; score == 134; expect == 4.6e-32; MEOW:AGgn0020785 (31%) |species == rice; score == 133; expect == 5.3e-31; MEOW:gnl|TIGR|8355.m02746 (31%) |species == Fruitfly; gene == CG3074; score == 132; expect == 3.1e-31; MEOW:FBgn0034709 (29%) |species == Weed; gene == At1g02300; score == 131; expect == 9.1e-31; MEOW:ATgn0003348 (37%) |species == Worm; gene == F41E6.6; score == 131; expect == 8.2e-31; MEOW:CEgn0010588 (35%) |species == Human; gene == CTSB; score == 131; expect == 6.1e-31; MEOW:HUgn0001508 (33%) } # EOR GENR { RETE|ID 1 HUgn0001076 DID 1 LocusLink:1076 NAM 1 cofilin-like 2 ORG 1 Homo sapiens SYM 1 CFLL2 ID|HUgn0001076 DID|LocusLink:1076 ORG|Homo sapiens SYM|CFLL2 NAM|cofilin-like 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127446 } # EOR GENR { RETE|ID 1 HUgn0001077 DID 1 LocusLink:1077 NAM 1 cofilin-like 3 ORG 1 Homo sapiens SYM 1 CFLL3 ID|HUgn0001077 DID|LocusLink:1077 ORG|Homo sapiens SYM|CFLL3 NAM|cofilin-like 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127447 } # EOR GENR { RETE|ID 1 HUgn0001078 DID 1 LocusLink:1078 NAM 1 cofilin-like 4 ORG 1 Homo sapiens SYM 1 CFLL4 ID|HUgn0001078 DID|LocusLink:1078 ORG|Homo sapiens SYM|CFLL4 NAM|cofilin-like 4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127448 } # EOR GENR { RETE|ID 1 HUgn0001079 CHR 1 X DID 1 LocusLink:1079 MAP 1 Xp22 NAM 1 craniofrontonasal syndrome (craniofrontonasal dysplasia) ORG 1 Homo sapiens SYM 1 CFNS ID|HUgn0001079 DID|LocusLink:1079 ORG|Homo sapiens SYM|CFNS NAM|craniofrontonasal syndrome (craniofrontonasal dysplasia) SYN|CFND CHR|X PRD|Craniofrontonasal syndrome DBL|OMIM:304110 MAP|Xp22 PHP|Craniofrontonasal dysplasia URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9579470 |http://www.geneclinics.org/query?mim=304110 } # EOR GENR { RETE|ID 1 HUgn0001080 CHR 1 7 DID 1 LocusLink:1080 MAP 1 7q31.2 NAM 1 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ORG 1 Homo sapiens SYM 1 CFTR ID|HUgn0001080 DID|LocusLink:1080 ORG|Homo sapiens RSQ|REFSEQ:NM_000492 RPA|REFPROT:NP_000483 DBA|XM:NM_000492 |XM:NM_000492 |NA:AC000061 |NA:AC000111 |NA:M55106 |NA:M55131 |NA:M28668 |NA:S64699 |NA:none PAC|XP:NP_000483 |XP:NP_000483 SYM|CFTR NAM|cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) SYN|CF |MRP7 |ABC35 |ABCC7 FNC|cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) |ion transport ; GO:0006811 |respiratory gaseous exchange ; GO:0007585 |invasive growth ; GO:0007125 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which |is involved in multi-drug resistance. This protein functions as a chloride channel |and controls the regulation of other transport pathways. Mutations in this gene |have been observed in patients with the autosomal recessive disorders cystic fibrosis |(CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice |variants have been described, many of which result from mutations in the CFTR gene. CHR|7 PRD|CFTR/MRP |ATP-binding cassette, sub-family C member 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=411882 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=489783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1080[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120584 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000492 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000492 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.143+OR+mono_001.section.152+OR+mono_001.table.153+OR+mono_001.table.155+OR+mono_001.section.139+OR+mono_001.section.144+OR+mono_001.section.161+OR+mono_001.section.191+OR+mono_001.table.145+OR+arev.section.105 |http://www.geneclinics.org/query?mim=602421 |http://www.ncbi.nlm.nih.gov/disease/CF.html |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA109 |http://www.humanabc.org |http://www.genet.sickkids.on.ca/cftr/ |http://www.ai.mit.edu/people/mernst/cf/ DBL|UNIGENE:Hs.411882 |UNIGENE:Hs.489783 |OMIM:602421 |SNP:1080 |UWCM:120584.html MAP|7q31.2 PHP|Congenital bilateral absence of vas deferens |Cystic fibrosis |Hypertrypsinemia, neonatal |Pancreatitis, idiopathic |Sweat chloride elevation without CF ENZ|ATP-binding and phosphorylation-dependent chloride channel activity ; GO:0005224 |nucleotide binding ; GO:0000166 |ion channel activity ; GO:0005216 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cftr; score == 2226; expect == 0.0; MEOW:MGgn0001324 (78%) |species == rat; score == 2010; expect == 0.0; MEOW:ref|XP_347230.1| (71%) |species == rat; score == 2010; expect == 0.0; MEOW:ref|XP_347233.1| (71%) |species == Worm; gene == mrp-2; score == 515; expect == 6e-146; MEOW:CEgn0002052 (26%) |species == Worm; gene == mrp-1; score == 505; expect == 6e-143; MEOW:CEgn0002051 (25%) |species == chimp; score == 452; expect == 1e-128; MEOW:sp|Q8SPT1|Q8SPT1 (98%) |species == Zfish; gene == abcc4; score == 404; expect == 2e-112; MEOW:ZFgn0013883 (34%) |species == Human; gene == ABCC4; score == 399; expect == 7e-111; MEOW:HUgn0010257 (34%) |species == Fruitfly; gene == CG4562; score == 368; expect == 9e-102; MEOW:FBgn0038740 (32%) |species == Mosquito; score == 362; expect == 5e-100; MEOW:AGgn0004277 (32%) |species == Mosquito; score == 362; expect == 5e-100; MEOW:AGgn0028087 (32%) |species == Fruitfly; gene == CG14709; score == 355; expect == 8.3e-98; MEOW:FBgn0025701 (32%) |species == Fruitfly; gene == CG31793; score == 344; expect == 1.9e-94; MEOW:FBgn0051793 (31%) |species == Mosquito; score == 335; expect == 5.0e-92; MEOW:AGgn0021575 (32%) |species == Mosquito; score == 332; expect == 4.2e-91; MEOW:AGgn0001450 (32%) |species == Fruitfly; gene == l(2)03659; score == 331; expect == 1.3e-90; MEOW:FBgn0010549 (31%) |species == Mosquito; gene == LOC8456; score == 314; expect == 1.5e-85; MEOW:AGgn0008456 (30%) |species == Fruitfly; gene == CG11898; score == 310; expect == 3.1e-84; MEOW:FBgn0039645 (28%) |species == Fruitfly; gene == CG11897; score == 307; expect == 2.0e-83; MEOW:FBgn0039644 (29%) |species == Fruitfly; gene == CG10505; score == 305; expect == 7.6e-83; MEOW:FBgn0034612 (30%) |species == Mosquito; gene == LOC8459; score == 299; expect == 3.9e-81; MEOW:AGgn0008459 (33%) |species == Mosquito; score == 299; expect == 3.9e-81; MEOW:AGgn0026123 (33%) |species == Fruitfly; gene == CG9270; score == 298; expect == 7.1e-81; MEOW:FBgn0032908 (33%) |species == Mosquito; gene == LOC14021; score == 290; expect == 2.4e-78; MEOW:AGgn0014021 (34%) |species == Yeast; gene == YCF1; score == 279; expect == 2.1e-75; MEOW:SGgn0002542 (31%) |species == Weed; gene == At1g04120; score == 275; expect == 1.9e-73; MEOW:ATgn0005402 (28%) |species == Weed; gene == At3g62700; score == 271; expect == 2.1e-72; MEOW:ATgn0015337 (31%) |species == Weed; gene == At1g30400; score == 270; expect == 6.1e-72; MEOW:ATgn0006489 (26%) |species == Weed; gene == At1g30410; score == 266; expect == 5.1e-71; MEOW:ATgn0006491 (27%) |species == Weed; gene == At1g30420; score == 266; expect == 8.7e-71; MEOW:ATgn0006493 (28%) |species == Weed; gene == At2g34660; score == 265; expect == 1.9e-70; MEOW:ATgn0028369 (27%) |species == Weed; gene == At3g59140; score == 262; expect == 1.3e-69; MEOW:ATgn0012279 (28%) |species == Weed; gene == At2g47800; score == 261; expect == 2.8e-69; MEOW:ATgn0007275 (31%) |species == rice; score == 258; expect == 4.0e-68; MEOW:gnl|TIGR|8352.m04913 (25%) |species == rice; score == 256; expect == 2.0e-67; MEOW:gnl|TIGR|8354.m00541 (29%) |species == Weed; gene == At3g60160; score == 255; expect == 1.2e-67; MEOW:ATgn0013159 (26%) |species == Weed; gene == At3g21250; score == 255; expect == 1.2e-67; MEOW:ATgn0013971 (28%) |species == Yeast; gene == BPT1; score == 254; expect == 9.5e-68; MEOW:SGgn0003938 (30%) |species == rice; score == 253; expect == 9.9e-67; MEOW:gnl|TIGR|8350.m02352 (30%) |species == rice; score == 251; expect == 3.8e-66; MEOW:gnl|TIGR|8353.m00862 (27%) |species == rice; score == 251; expect == 4.9e-66; MEOW:gnl|TIGR|8360.m00387 (27%) |species == rice; score == 245; expect == 2.7e-64; MEOW:gnl|TIGR|8358.m00476 (29%) |species == rice; score == 243; expect == 1.3e-63; MEOW:gnl|TIGR|8350.m00691 (27%) |species == Yeast; gene == YBT1; score == 242; expect == 2.9e-64; MEOW:SGgn0003971 (29%) |species == rice; score == 241; expect == 3.9e-63; MEOW:gnl|TIGR|8351.m01711 (27%) |species == rice; score == 239; expect == 1.9e-62; MEOW:gnl|TIGR|8351.m01714 (27%) |species == rice; score == 237; expect == 9.6e-62; MEOW:gnl|TIGR|8352.m04642 (32%) |species == Yeast; gene == YOR1; score == 233; expect == 1.7e-61; MEOW:SGgn0003513 (25%) |species == Yeast; gene == VMR1; score == 228; expect == 7.3e-60; MEOW:SGgn0001027 (27%) } # EOR GENR { RETE|ID 1 HUgn0001081 CHR 1 6 DID 1 LocusLink:1081 MAP 1 6q12-q21 NAM 1 glycoprotein hormones, alpha polypeptide ORG 1 Homo sapiens SYM 1 CGA ID|HUgn0001081 DID|LocusLink:1081 ORG|Homo sapiens RSQ|REFSEQ:NM_000735 RPA|REFPROT:NP_000726 DBA|XM:NM_000735 |NA:J00152 |NA:S70585 |NA:AB019569 |NA:BC010957 |NA:BC020782 |NA:BC055080 |NA:V00518 |NA:none PAC|XP:NP_000726 SYM|CGA NAM|glycoprotein hormones, alpha polypeptide SYN|HCG |LHA |FSHA |GPHa |TSHA |GPHA1 |CG-ALPHA FNC|glycoprotein hormones, alpha polypeptide precursor |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone |(LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) |are dimers consisting of alpha and beta subunits that are associated noncovalently. |The alpha subunits of these hormones are identical, however, their beta chains are |unique and confer biological specificity. The protein encoded by this gene is the |alpha subunit and belongs to the glycoprotein hormones alpha chain family. CHR|6 PRD|Chorionic gonadotropin, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119689 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1081[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119774 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000735 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000735 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=119689 DBL|UNIGENE:Hs.119689 |OMIM:118850 |SNP:1081 MAP|6q12-q21 ENZ|hormone activity ; GO:0005179 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Cga; score == 197; expect == 4.6e-52; MEOW:MGgn0001326 (73%) |species == rat; score == 195; expect == 3.5e-51; MEOW:ref|NP_446370.1| (71%) } # EOR GENR { RETE|ID 1 HUgn0001082 CHR 1 19 DID 1 LocusLink:1082 MAP 1 19q13.32 NAM 1 chorionic gonadotropin, beta polypeptide ORG 1 Homo sapiens SYM 1 CGB ID|HUgn0001082 DID|LocusLink:1082 ORG|Homo sapiens RSQ|REFSEQ:NM_000737 RPA|REFPROT:NP_000728 DBA|XM:NM_000737 |NA:K03189 |NA:M13504 |NA:BC022796 |NA:BC030994 |NA:BC041054 |NA:J00117 PAC|XP:NP_000728 SYM|CGB NAM|chorionic gonadotropin, beta polypeptide SYN|CGB3 FNC|chorionic gonadotropin beta 3 subunit precursor |female gamete generation ; GO:0007292 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|This gene is a member of the glycoprotein hormone beta chain family and encodes the |beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers |consisting of a common alpha subunit and an unique beta subunit which confers biological |specificity. CG is produced by the trophoblastic cells of the placenta and stimulates |the ovaries to synthesize the steroids that are essential for the maintenance of |pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem |and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone |beta subunit gene. CHR|19 PRD|chorionic gonadotropin beta chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446683 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119055 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000737 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000737 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446683 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26434 DBL|UNIGENE:Hs.446683 |OMIM:118860 |SNP:1082 MAP|19q13.32 ENZ|hormone activity ; GO:0005179 CEL|soluble fraction ; GO:0005625 HG|species == Human; gene == CGB5; score == 287; expect == 1.6e-78; MEOW:HUgn0093659 (100%) |species == Human; gene == CGB8; score == 287; expect == 1.6e-78; MEOW:HUgn0094115 (100%) |species == Human; gene == CGB7; score == 280; expect == 3.3e-76; MEOW:HUgn0094027 (98%) |species == Human; gene == LHB; score == 235; expect == 6.7e-63; MEOW:HUgn0003972 (85%) |species == Mouse; gene == Cgb; score == 232; expect == 5.4e-62; MEOW:MGgn0043174 (81%) |species == rat; score == 182; expect == 7.2e-47; MEOW:ref|NP_036990.1| (65%) } # EOR GENR { RETE|ID 1 HUgn0001083 CHR 1 X DID 1 LocusLink:1083 MAP 1 Xp11.22-qter NAM 1 cognitive function 1, social ORG 1 Homo sapiens SYM 1 CGF1 ID|HUgn0001083 DID|LocusLink:1083 ORG|Homo sapiens SYM|CGF1 NAM|cognitive function 1, social CHR|X DBL|OMIM:300082 MAP|Xp11.22-qter PHP|Social cognition URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6275867 } # EOR GENR { RETE|ID 1 HUgn0001084 CHR 1 19 DID 1 LocusLink:1084 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 3 ORG 1 Homo sapiens SYM 1 CEACAM3 ID|HUgn0001084 DID|LocusLink:1084 ORG|Homo sapiens RSQ|REFSEQ:NM_001815 RPA|REFPROT:NP_001806 DBA|XM:NM_001815 |NA:E03348 |NA:E03349 |NA:D90277 |NA:D90278 |NA:L00692 |NA:L00693 |NA:none PAC|XP:NP_001806 SYM|CEACAM3 NAM|carcinoembryonic antigen-related cell adhesion molecule 3 SYN|CGM1 |CD66D |CD66d FNC|carcinoembryonic antigen-related cell adhesion molecule 3 CHR|19 PRD|carcinoembryonic antigen gene family member 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=11 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127990 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001815 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001815 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.11 |SNP:1084 MAP|19q13.2 CEL|integral to membrane ; GO:0016021 HG|species == Human; gene == CEACAM5; score == 253; expect == 5.2e-68; MEOW:HUgn0001048 (86%) |species == Human; gene == CEACAM6; score == 253; expect == 5.2e-68; MEOW:HUgn0004680 (86%) |species == Human; gene == CEACAM1; score == 248; expect == 2.2e-66; MEOW:HUgn0000634 (86%) |species == Human; gene == CEACAM8; score == 205; expect == 1.3e-53; MEOW:HUgn0001088 (71%) |species == Mouse; gene == Ceacam1; score == 153; expect == 3.8e-38; MEOW:MGgn0001284 (55%) |species == Mouse; gene == Ceacam2; score == 137; expect == 3.7e-33; MEOW:MGgn0001286 (47%) |species == Mouse; gene == Ceacam10; score == 131; expect == 1.5e-31; MEOW:MGgn0001285 (46%) } # EOR GENR { RETE|ID 1 HUgn0001085 CHR 1 19 DID 1 LocusLink:1085 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 ORG 1 Homo sapiens SYM 1 CEACAMP5 ID|HUgn0001085 DID|LocusLink:1085 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06672 |NA:U06673 SYM|CEACAMP5 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 SYN|CGM12 CHR|19 PRD|carcinoembryonic antigen gene family member 12 MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392165 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001086 CHR 1 19 DID 1 LocusLink:1086 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 ORG 1 Homo sapiens SYM 1 CEACAMP11 ID|HUgn0001086 DID|LocusLink:1086 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06679 SYM|CEACAMP11 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 SYN|CGM18 CHR|19 PRD|carcinoembryonic antigen gene family member 18 MAP|19q13.2 DBL|SNP:1086 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392172 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001087 CHR 1 19 DID 1 LocusLink:1087 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 7 ORG 1 Homo sapiens SYM 1 CEACAM7 ID|HUgn0001087 DID|LocusLink:1087 ORG|Homo sapiens RSQ|REFSEQ:NM_006890 RPA|REFPROT:NP_008821 DBA|XM:NM_006890 |NA:AC005797 |NA:AF006623 |NA:L31792 |NA:X98311 |NA:none PAC|XP:NP_008821 SYM|CEACAM7 NAM|carcinoembryonic antigen-related cell adhesion molecule 7 SYN|CGM2 FNC|carcinoembryonic antigen-related cell adhesion molecule 7 CHR|19 PRD|carcinoembryonic antigen gene family member 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74466 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127986 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006890 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006890 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.74466 |SNP:1087 MAP|19q13.2 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Human; gene == CEACAM1; score == 341; expect == 2.7e-94; MEOW:HUgn0000634 (70%) |species == Human; gene == CEACAM6; score == 326; expect == 6.9e-90; MEOW:HUgn0004680 (67%) |species == Human; gene == CEACAM5; score == 324; expect == 3.4e-89; MEOW:HUgn0001048 (67%) |species == Human; gene == CEACAM8; score == 322; expect == 1.7e-88; MEOW:HUgn0001088 (69%) |species == rat; score == 200; expect == 7.6e-52; MEOW:ref|NP_113943.1| (44%) |species == Mouse; gene == Ceacam1; score == 193; expect == 6.1e-50; MEOW:MGgn0001284 (42%) |species == Mouse; gene == Ceacam2; score == 172; expect == 1.4e-43; MEOW:MGgn0001286 (36%) } # EOR GENR { RETE|ID 1 HUgn0001088 CHR 1 19 DID 1 LocusLink:1088 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 8 ORG 1 Homo sapiens SYM 1 CEACAM8 ID|HUgn0001088 DID|LocusLink:1088 ORG|Homo sapiens RSQ|REFSEQ:NM_001816 RPA|REFPROT:NP_001807 DBA|XM:NM_001816 |NA:AC004558 |NA:BC026263 |NA:D90064 |NA:M33326 |NA:X52378 |NA:none PAC|XP:NP_001807 SYM|CEACAM8 NAM|carcinoembryonic antigen-related cell adhesion molecule 8 SYN|CD67 |CGM6 |CD66b |NCA-95 FNC|carcinoembryonic antigen-related cell adhesion molecule 8 |immune response ; GO:0006955 CHR|19 PRD|carcinoembryonic antigen gene family member 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=41 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127667 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001816 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001816 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=41 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.41 |SNP:1088 MAP|19q13.2 CEL|integral to plasma membrane ; GO:0005887 |extracellular space ; GO:0005615 HG|species == Human; gene == CEACAM6; score == 536; expect == 8e-153; MEOW:HUgn0004680 (78%) |species == Human; gene == CEACAM1; score == 516; expect == 5e-147; MEOW:HUgn0000634 (76%) |species == Human; gene == CEACAM5; score == 484; expect == 4e-137; MEOW:HUgn0001048 (76%) |species == rat; score == 354; expect == 8.2e-98; MEOW:ref|NP_113943.1| (54%) |species == Mouse; gene == Ceacam1; score == 196; expect == 1.1e-50; MEOW:MGgn0001284 (43%) |species == Mouse; gene == Ceacam2; score == 177; expect == 5.1e-45; MEOW:MGgn0001286 (38%) } # EOR GENR { RETE|ID 1 HUgn0001089 CHR 1 19 DID 1 LocusLink:1089 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule 4 ORG 1 Homo sapiens SYM 1 CEACAM4 ID|HUgn0001089 DID|LocusLink:1089 ORG|Homo sapiens RSQ|REFSEQ:NM_001817 RPA|REFPROT:NP_001808 DBA|XM:NM_001817 |NA:D90276 PAC|XP:NP_001808 SYM|CEACAM4 NAM|carcinoembryonic antigen-related cell adhesion molecule 4 SYN|CGM7 FNC|carcinoembryonic antigen-related cell adhesion molecule 4 CHR|19 PRD|carcinoembryonic antigen gene family member 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127989 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001817 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001817 |http://cea.klinikum.uni-muenchen.de/ DBL|UNIGENE:Hs.12 |SNP:1089 MAP|19q13.2 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Human; gene == CEACAM3; score == 177; expect == 2.8e-45; MEOW:HUgn0001084 (55%) |species == Human; gene == CEACAM6; score == 162; expect == 1.2e-40; MEOW:HUgn0004680 (53%) |species == Human; gene == CEACAM8; score == 157; expect == 6.4e-39; MEOW:HUgn0001088 (53%) |species == Human; gene == CEACAM1; score == 149; expect == 1.7e-36; MEOW:HUgn0000634 (50%) |species == Human; gene == CEACAM5; score == 147; expect == 5.1e-36; MEOW:HUgn0001048 (50%) |species == Human; gene == R29124_1; score == 142; expect == 1.2e-34; MEOW:HUgn0090273 (48%) |species == Mouse; gene == Ceacam10; score == 130; expect == 5.6e-31; MEOW:MGgn0001285 (42%) |species == Mouse; gene == Ceacam2; score == 129; expect == 9.5e-31; MEOW:MGgn0001286 (44%) |species == rat; score == 128; expect == 9.0e-31; MEOW:ref|NP_775461.1| (47%) } # EOR GENR { RETE|ID 1 HUgn0001090 CHR 1 19 DID 1 LocusLink:1090 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 ORG 1 Homo sapiens SYM 1 CEACAMP1 ID|HUgn0001090 DID|LocusLink:1090 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M80575 |NA:M96921 SYM|CEACAMP1 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 SYN|CGM8 CHR|19 PRD|carcinoembryonic antigen gene family member 8 (pseudogene) MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127991 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001091 CHR 1 19 DID 1 LocusLink:1091 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 ORG 1 Homo sapiens SYM 1 CEACAMP2 ID|HUgn0001091 DID|LocusLink:1091 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M96922 SYM|CEACAMP2 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 SYN|CGM9 CHR|19 PRD|carcinoembryonic antigen gene family member 9 (pseudogene) MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127988 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001092 CHR 1 19 DID 1 LocusLink:1092 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 ORG 1 Homo sapiens SYM 1 CEACAMP3 ID|HUgn0001092 DID|LocusLink:1092 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M96923 SYM|CEACAMP3 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 SYN|CGM10 CHR|19 PRD|carcinoembryonic antigen gene family member 10 (pseudogene) MAP|19q13.2 DBL|SNP:1092 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132364 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001093 CHR 1 19 DID 1 LocusLink:1093 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 ORG 1 Homo sapiens SYM 1 CEACAMP4 ID|HUgn0001093 DID|LocusLink:1093 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M96924 SYM|CEACAMP4 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 SYN|CGM11 CHR|19 PRD|carcinoembryonic antigen gene family member 11 (pseudogene) MAP|19q13.2 DBL|SNP:1093 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132365 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001094 CHR 1 19 DID 1 LocusLink:1094 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 ORG 1 Homo sapiens SYM 1 CEACAMP6 ID|HUgn0001094 DID|LocusLink:1094 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06674 SYM|CEACAMP6 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 SYN|CGM13 CHR|19 PRD|carcinoembryonic antigen gene family member 13 MAP|19q13.2 DBL|SNP:1094 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392167 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001095 CHR 1 19 DID 1 LocusLink:1095 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 ORG 1 Homo sapiens SYM 1 CEACAMP7 ID|HUgn0001095 DID|LocusLink:1095 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06675 SYM|CEACAMP7 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 SYN|CGM14 CHR|19 PRD|carcinoembryonic antigen gene family member 14 MAP|19q13.2 DBL|SNP:1095 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392168 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001096 CHR 1 19 DID 1 LocusLink:1096 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 ORG 1 Homo sapiens SYM 1 CEACAMP8 ID|HUgn0001096 DID|LocusLink:1096 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06676 SYM|CEACAMP8 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 SYN|CGM15 CHR|19 PRD|carcinoembryonic antigen gene family member 15 MAP|19q13.2 DBL|SNP:1096 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392169 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001097 CHR 1 19 DID 1 LocusLink:1097 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 ORG 1 Homo sapiens SYM 1 CEACAMP9 ID|HUgn0001097 DID|LocusLink:1097 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06677 SYM|CEACAMP9 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 SYN|CGM16 CHR|19 PRD|carcinoembryonic antigen gene family member 16 MAP|19q13.2 DBL|SNP:1097 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392170 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001098 CHR 1 19 DID 1 LocusLink:1098 MAP 1 19q13.2 NAM 1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 ORG 1 Homo sapiens SYM 1 CEACAMP10 ID|HUgn0001098 DID|LocusLink:1098 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U06678 SYM|CEACAMP10 NAM|carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 SYN|CGM17 CHR|19 PRD|carcinoembryonic antigen gene family member 17 MAP|19q13.2 DBL|SNP:1098 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:392171 |http://cea.klinikum.uni-muenchen.de/ } # EOR GENR { RETE|ID 1 HUgn0001099 DID 1 LocusLink:1099 NAM 1 conglutinin 1 ORG 1 Homo sapiens SYM 1 CGN1 ID|HUgn0001099 DID|LocusLink:1099 ORG|Homo sapiens SYM|CGN1 NAM|conglutinin 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:137088 } # EOR GENR { RETE|ID 1 HUgn0001101 CHR 1 17 DID 1 LocusLink:1101 MAP 1 17q21.33 NAM 1 chondroadherin ORG 1 Homo sapiens SYM 1 CHAD ID|HUgn0001101 DID|LocusLink:1101 ORG|Homo sapiens RSQ|REFSEQ:NM_001267 RPA|REFPROT:NP_001258 DBA|XM:NM_001267 |NA:U96767 |NA:U96768 |NA:U96769 |NA:AF371328 |NA:BC036360 |NA:none PAC|XP:NP_001258 SYM|CHAD NAM|chondroadherin SYN|SLRR4A FNC|chondroadherin precursor |regulation of cell growth ; GO:0001558 REAB|Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated |chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich |regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=97220 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6297421 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001267 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001267 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=97220 DBL|UNIGENE:Hs.97220 |OMIM:602178 |SNP:1101 MAP|17q21.33 ENZ|extracellular matrix structural constituent ; GO:0005201 CEL|extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Chad; score == 624; expect == 1e-179; MEOW:MGgn0001329 (94%) |species == rat; score == 620; expect == 3e-178; MEOW:ref|NP_062037.1| (93%) |species == Human; gene == KIAA1580; score == 147; expect == 1.8e-35; MEOW:HUgn0057689 (31%) } # EOR GENR { RETE|ID 1 HUgn0001102 CHR 1 13 DID 1 LocusLink:1102 MAP 1 13q14.3 NAM 1 chromosome condensation 1-like ORG 1 Homo sapiens SYM 1 CHC1L ID|HUgn0001102 DID|LocusLink:1102 ORG|Homo sapiens RSQ|REFSEQ:NM_001268 RPA|REFPROT:NP_001259 DBA|XM:NM_001268 |NA:AF060219 |NA:AK023010 |NA:AK122778 |NA:BC029052 |NA:BC031965 PAC|XP:NP_001259 SYM|CHC1L NAM|chromosome condensation 1-like FNC|RCC1-like G exchanging factor RLG REAB|CHC1L appears to be a new member of the RCC1-related GEF family. The N-terminal half |of the deduced amino acid sequence shows similarity to the regulator of chromosome |condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein |for the Ras-related GTPase Ran. CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=27007 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1102[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837763 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001268 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001268 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=27007 DBL|UNIGENE:Hs.27007 |OMIM:603524 |SNP:1102 MAP|13q14.3 ENZ|Ran guanyl-nucleotide exchange factor activity ; GO:0005087 |protein binding ; GO:0005515 HG|species == Mouse; gene == Chc1l; score == 1048; expect == 0.0; MEOW:MGgn0021804 (95%) |species == rat; score == 1048; expect == 0.0; MEOW:ref|XP_214224.2| (94%) |species == Human; gene == RCBTB1; score == 757; expect == 0.0; MEOW:HUgn0055213 (70%) |species == rice; score == 163; expect == 2.1e-40; MEOW:gnl|TIGR|8352.m03315 (31%) |species == Weed; gene == At5g63860; score == 162; expect == 2.6e-40; MEOW:ATgn0023383 (31%) |species == rice; score == 146; expect == 3.4e-35; MEOW:gnl|TIGR|8351.m03264 (29%) |species == Mosquito; score == 145; expect == 7.6e-34; MEOW:AGgn0020044 (35%) |species == Mosquito; score == 145; expect == 7.2e-34; MEOW:AGgn0025597 (35%) |species == Mosquito; score == 138; expect == 3.9e-33; MEOW:AGgn0014983 (36%) |species == Weed; gene == At3g23270; score == 133; expect == 6.1e-31; MEOW:ATgn0015464 (31%) |species == rice; score == 133; expect == 7.2e-31; MEOW:gnl|TIGR|8353.m02776 (32%) |species == rice; score == 133; expect == 6.2e-31; MEOW:gnl|TIGR|8353.m04170 (33%) |species == rice; score == 132; expect == 8.2e-31; MEOW:gnl|TIGR|8352.m05520 (30%) } # EOR GENR { RETE|ID 1 HUgn0001103 CHR 1 10 DID 1 LocusLink:1103 MAP 1 10q11.2 NAM 1 choline acetyltransferase ORG 1 Homo sapiens SYM 1 CHAT ID|HUgn0001103 DID|LocusLink:1103 ORG|Homo sapiens RSQ|REFSEQ:NM_020549 |REFSEQ:NM_020984 |REFSEQ:NM_020985 |REFSEQ:NM_020986 RPA|REFPROT:NP_065574 |REFPROT:NP_066264 |REFPROT:NP_066265 |REFPROT:NP_066266 DBA|XM:NM_020549 |XM:NM_020984 |XM:NM_020985 |XM:NM_020986 |NA:M96015 |NA:X56585 |NA:X56879 |NA:AF305907 |NA:AF305908 |NA:AF305909 |NA:D82339 |NA:D82340 |NA:D82341 |NA:D82342 |NA:S45018 |NA:S56138 |NA:none PAC|XP:NP_065574 |XP:NP_066264 |XP:NP_066265 |XP:NP_066266 SYM|CHAT NAM|choline acetyltransferase SYN|FIMG2 FNC|choline acetyltransferase isoform 1 |choline acetyltransferase isoform 2 |synaptic transmission ; GO:0007268 |neurotransmitter biosynthesis ; GO:0042136 REAB|Cholinergic systems are implicated in numerous neurologic functions. Alteration in |some cholinergic neurons may account for the disturbances of Alzheimer disease. |The protein encoded by this gene synthesizes the neurotransmitter acetylcholine. |Alternative splice variants have been found that contain alternative 5' untranslated |exons. Three of the four described splice variants encode identical 69 kDa proteins |while one variant encodes both the 69 kDa and a larger 82 kDa protein. CHR|10 PRD|acetyl CoA:choline O-acetyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=302002 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119775 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020549 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020549 |http://www.geneclinics.org/query?mim=118490 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.302002 |OMIM:118490 |SNP:1103 ENZ|EC:2.3.1.6 |acyltransferase activity ; GO:0008415 |choline O-acetyltransferase activity ; GO:0004102 |transferase activity ; GO:0016740 MAP|10q11.2 PHP|Myasthenia gravis, familial infantile, 2 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Chat; score == 1117; expect == 0.0; MEOW:MGgn0001334 (87%) |species == rat; score == 1039; expect == 0.0; MEOW:ref|XP_224626.2| (77%) |species == Human; gene == CRAT; score == 471; expect == 4e-133; MEOW:HUgn0001384 (42%) |species == Fruitfly; gene == Cha; score == 456; expect == 1e-128; MEOW:FBgn0000303 (38%) |species == Mosquito; gene == LOC1265; score == 434; expect == 4e-122; MEOW:AGgn0001265 (40%) |species == Worm; gene == B0395.3; score == 334; expect == 1.1e-91; MEOW:CEgn0003459 (34%) |species == Worm; gene == cha-1; score == 318; expect == 6.3e-87; MEOW:CEgn0000214 (34%) |species == Yeast; gene == CAT2; score == 251; expect == 2.3e-67; MEOW:SGgn0004506 (30%) |species == Yeast; gene == YAT1; score == 204; expect == 5.4e-53; MEOW:SGgn0000080 (27%) } # EOR GENR { RETE|ID 1 HUgn0001104 CHR 1 1 DID 1 LocusLink:1104 MAP 1 1p36.1 NAM 1 chromosome condensation 1 ORG 1 Homo sapiens SYM 1 CHC1 ID|HUgn0001104 DID|LocusLink:1104 ORG|Homo sapiens RSQ|REFSEQ:NM_001269 RPA|REFPROT:NP_001260 DBA|XM:NM_001269 |NA:D00591 |NA:AF498924 |NA:BC001589 |NA:BC006790 |NA:BC007300 |NA:BC010067 |NA:BC012122 |NA:BC017334 |NA:BC036903 |NA:X06130 |NA:X12654 |NA:none PAC|XP:NP_001260 SYM|CHC1 NAM|chromosome condensation 1 SYN|RCC1 FNC|chromosome condensation 1 |cell cycle ; GO:0007049 |mitosis ; GO:0007067 |DNA packaging ; GO:0006323 CHR|1 PRD|regulator of chromosome condensation URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=196769 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1104[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119056 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001269 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001269 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=196769 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26449 DBL|UNIGENE:Hs.196769 |OMIM:179710 |SNP:1104 MAP|1p36.1 ENZ|Ran guanyl-nucleotide exchange factor activity ; GO:0005087 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Chc1; score == 706; expect == 0.0; MEOW:MGgn0024783 (93%) |species == Fruitfly; gene == Bj1; score == 308; expect == 6.6e-84; MEOW:FBgn0002638 (42%) |species == Weed; gene == At5g63860; score == 176; expect == 2.3e-44; MEOW:ATgn0023383 (35%) |species == Worm; gene == ran-3; score == 172; expect == 4.5e-43; MEOW:CEgn0005422 (32%) |species == rice; score == 156; expect == 2.0e-38; MEOW:gnl|TIGR|8352.m03315 (32%) |species == Mosquito; gene == LOC22492; score == 148; expect == 1.7e-36; MEOW:AGgn0022492 (50%) |species == rice; score == 145; expect == 4.5e-35; MEOW:gnl|TIGR|8351.m03264 (30%) |species == Yeast; gene == SRM1; score == 139; expect == 6.4e-34; MEOW:SGgn0003065 (27%) } # EOR GENR { RETE|ID 1 HUgn0001105 CHR 1 5 DID 1 LocusLink:1105 MAP 1 5q15-q21 NAM 1 chromodomain helicase DNA binding protein 1 ORG 1 Homo sapiens SYM 1 CHD1 ID|HUgn0001105 DID|LocusLink:1105 ORG|Homo sapiens RSQ|REFSEQ:NM_001270 RPA|REFPROT:NP_001261 DBA|XM:NM_001270 |NA:AF006513 |NA:none PAC|XP:NP_001261 SYM|CHD1 NAM|chromodomain helicase DNA binding protein 1 FNC|chromodomain helicase DNA binding protein 1 |chromatin assembly/disassembly ; GO:0006333 |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|The CHD family of proteins is characterized by the presence of chromo (chromatin |organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes |alter gene expression possibly by modification of chromatin structure thus altering |access of the transcriptional apparatus to its chromosomal DNA template. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=311553 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1105[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837215 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001270 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001270 DBL|UNIGENE:Hs.311553 |OMIM:602118 |SNP:1105 MAP|5q15-q21 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |chromatin binding ; GO:0003682 |ATP binding ; GO:0005524 CEL|nucleus ; GO:0005634 |chromatin ; GO:0000785 HG|species == Mouse; gene == Chd1; score == 2726; expect == 0.0; MEOW:MGgn0001335 (94%) |species == Human; gene == CHD2; score == 1621; expect == 0.0; MEOW:HUgn0001106 (58%) |species == rat; score == 1616; expect == 0.0; MEOW:ref|XP_218790.2| (69%) |species == rat; score == 1426; expect == 0.0; MEOW:ref|XP_238731.2| (92%) |species == Fruitfly; gene == Chd1; score == 1288; expect == 0.0; MEOW:FBgn0016132 (54%) |species == Mosquito; gene == LOC11045; score == 1272; expect == 0.0; MEOW:AGgn0011045 (51%) |species == Worm; gene == H06O01.2; score == 1018; expect == 0.0; MEOW:CEgn0012664 (45%) |species == Weed; gene == At2g13370; score == 758; expect == 0.0; MEOW:ATgn0009989 (40%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8355.m04446 (36%) |species == Yeast; gene == CHD1; score == 665; expect == 0.0; MEOW:SGgn0000966 (34%) } # EOR GENR { RETE|ID 1 HUgn0001106 CHR 1 15 DID 1 LocusLink:1106 MAP 1 15q26 NAM 1 chromodomain helicase DNA binding protein 2 ORG 1 Homo sapiens SYM 1 CHD2 ID|HUgn0001106 DID|LocusLink:1106 ORG|Homo sapiens RSQ|REFSEQ:NM_001271 RPA|REFPROT:NP_001262 DBA|XM:NM_001271 |NA:AF006514 |NA:BC007347 |NA:BC020810 |NA:BC031320 |NA:BC040578 |NA:BT007050 |NA:none PAC|XP:NP_001262 SYM|CHD2 NAM|chromodomain helicase DNA binding protein 2 FNC|chromodomain helicase DNA binding protein 2 |chromatin assembly/disassembly ; GO:0006333 |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|The CHD family of proteins is characterized by the presence of chromo (chromatin |organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes |alter gene expression possibly by modification of chromatin structure thus altering |access of the transcriptional apparatus to its chromosomal DNA template. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436764 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1106[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837217 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001271 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001271 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436764 DBL|UNIGENE:Hs.436764 |OMIM:602119 |SNP:1106 MAP|15q26 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |chromatin binding ; GO:0003682 |ATP binding ; GO:0005524 CEL|nucleus ; GO:0005634 |chromatin ; GO:0000785 HG|species == rat; score == 2205; expect == 0.0; MEOW:ref|XP_218790.2| (90%) |species == Mouse; gene == Chd1; score == 1645; expect == 0.0; MEOW:MGgn0001335 (61%) |species == Human; gene == CHD1; score == 1621; expect == 0.0; MEOW:HUgn0001105 (58%) |species == Fruitfly; gene == Chd1; score == 1297; expect == 0.0; MEOW:FBgn0016132 (54%) |species == Mosquito; gene == LOC11045; score == 1237; expect == 0.0; MEOW:AGgn0011045 (52%) |species == Worm; gene == H06O01.2; score == 1012; expect == 0.0; MEOW:CEgn0012664 (53%) |species == Weed; gene == At2g13370; score == 773; expect == 0.0; MEOW:ATgn0009989 (42%) |species == rice; score == 669; expect == 0.0; MEOW:gnl|TIGR|8355.m04446 (34%) |species == Yeast; gene == CHD1; score == 630; expect == 0.0; MEOW:SGgn0000966 (34%) } # EOR GENR { RETE|ID 1 HUgn0001107 CHR 1 17 DID 1 LocusLink:1107 MAP 1 17p13.1 NAM 1 chromodomain helicase DNA binding protein 3 ORG 1 Homo sapiens SYM 1 CHD3 ID|HUgn0001107 DID|LocusLink:1107 ORG|Homo sapiens DBA|XM:XM_351097 |NA:U08379 |NA:U91543 |NA:none PAC|XP:XP_351098 SYM|CHD3 NAM|chromodomain helicase DNA binding protein 3 SYN|ZFH |Mi2-ALPHA REAB|The CHD family of proteins is characterized by the presence of chromo (chromatin |organization modifier) domains and SNF2-related helicase/ATPase domains. Patients |with dermatomyositis develop antibodies against the nuclear antigen chromodomain |helicase DNA binding protein 3. CHR|17 PRD|Mi-2a |zinc-finger helicase (Snf2-like) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=25601 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1107[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837219 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U91543 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U91543 DBL|UNIGENE:Hs.25601 |OMIM:602120 |SNP:1107 MAP|17p13.1 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |chromatin binding ; GO:0003682 |ATP binding ; GO:0005524 |zinc ion binding ; GO:0008270 FNC|chromatin assembly/disassembly ; GO:0006333 |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 |regulation of transcription from Pol II promoter ; GO:0006357 |chromatin modification ; GO:0016568 CEL|nucleus ; GO:0005634 |chromatin ; GO:0000785 HG|species == rat; score == 3102; expect == 0.0; MEOW:ref|XP_220602.2| (96%) |species == Human; gene == CHD5; score == 2323; expect == 0.0; MEOW:HUgn0026038 (69%) |species == Human; gene == CHD4; score == 2254; expect == 0.0; MEOW:HUgn0001108 (70%) |species == Fruitfly; gene == Mi-2; score == 1766; expect == 0.0; MEOW:FBgn0013591 (55%) |species == Mosquito; gene == LOC8665; score == 1733; expect == 0.0; MEOW:AGgn0008665 (60%) |species == Weed; gene == At2g25170; score == 729; expect == 0.0; MEOW:ATgn0008736 (41%) |species == rice; score == 608; expect == 3e-173; MEOW:gnl|TIGR|8354.m00741 (40%) |species == rice; score == 608; expect == 3e-173; MEOW:gnl|TIGR|8354.m00752 (40%) |species == rice; score == 513; expect == 5e-145; MEOW:gnl|TIGR|8355.m02925 (40%) |species == Mouse; gene == Chd1; score == 509; expect == 7e-144; MEOW:MGgn0001335 (40%) |species == Mouse; gene == Chd3; score == 503; expect == 6e-143; MEOW:MGgn0001336 (98%) |species == Worm; gene == H06O01.2; score == 500; expect == 2e-141; MEOW:CEgn0012664 (38%) |species == Yeast; gene == CHD1; score == 488; expect == 1e-137; MEOW:SGgn0000966 (43%) |species == Worm; gene == T04D1.4; score == 481; expect == 3e-135; MEOW:CEgn0015369 (41%) |species == Mouse; gene == Smarca1; score == 437; expect == 2e-122; MEOW:MGgn0028797 (35%) |species == Yeast; gene == ISW2; score == 431; expect == 1e-120; MEOW:SGgn0005831 (43%) |species == Mouse; gene == Smarca5; score == 416; expect == 5e-116; MEOW:MGgn0028798 (38%) } # EOR GENR { RETE|ID 1 HUgn0001108 CHR 1 12 DID 1 LocusLink:1108 MAP 1 12p13 NAM 1 chromodomain helicase DNA binding protein 4 ORG 1 Homo sapiens SYM 1 CHD4 ID|HUgn0001108 DID|LocusLink:1108 ORG|Homo sapiens RSQ|REFSEQ:NM_001273 RPA|REFPROT:NP_001264 DBA|XM:NM_001273 |NA:AK128741 |NA:BC014964 |NA:BC025962 |NA:BC038596 |NA:X86691 |NA:none PAC|XP:NP_001264 SYM|CHD4 NAM|chromodomain helicase DNA binding protein 4 SYN|Mi2-BETA FNC|chromodomain helicase DNA binding protein 4 REAB|The CHD family of proteins is characterized by the presence of chromo (chromatin |organization modifier) domains and SNF2-related helicase/ATPase domains. Patients |with dermatomyositis develop antibodies against the nuclear antigen chromodomain |helicase DNA binding protein 4. The protein exists in a complex containing histone |deacetylase and nucleosome remodeling activities, suggesting a role for chromatin |reorganization in cancer metastasis. CHR|12 PRD|Mi-2b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74441 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1108[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837221 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001273 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001273 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74441 DBL|UNIGENE:Hs.74441 |OMIM:603277 |SNP:1108 MAP|12p13 HG|species == rat; score == 2923; expect == 0.0; MEOW:ref|XP_232354.2| (97%) |species == Human; gene == CHD5; score == 2336; expect == 0.0; MEOW:HUgn0026038 (70%) |species == Human; gene == CHD3; score == 2254; expect == 0.0; MEOW:HUgn0001107 (70%) |species == Fruitfly; gene == Mi-2; score == 1741; expect == 0.0; MEOW:FBgn0013591 (59%) |species == Mosquito; gene == LOC8665; score == 1463; expect == 0.0; MEOW:AGgn0008665 (56%) |species == Weed; gene == At2g25170; score == 733; expect == 0.0; MEOW:ATgn0008736 (42%) |species == rice; score == 632; expect == 0.0; MEOW:gnl|TIGR|8354.m00741 (40%) |species == rice; score == 632; expect == 0.0; MEOW:gnl|TIGR|8354.m00752 (40%) |species == rice; score == 514; expect == 2e-145; MEOW:gnl|TIGR|8355.m02925 (40%) |species == Mouse; gene == Chd1; score == 513; expect == 4e-145; MEOW:MGgn0001335 (40%) |species == Worm; gene == H06O01.2; score == 494; expect == 2e-139; MEOW:CEgn0012664 (38%) |species == Worm; gene == T04D1.4; score == 479; expect == 8e-135; MEOW:CEgn0015369 (39%) |species == Yeast; gene == CHD1; score == 478; expect == 1e-134; MEOW:SGgn0000966 (42%) |species == Yeast; gene == ISW2; score == 427; expect == 2e-119; MEOW:SGgn0005831 (35%) |species == Mouse; gene == Smarca1; score == 425; expect == 8e-119; MEOW:MGgn0028797 (37%) |species == Mouse; gene == Smarca5; score == 411; expect == 2e-114; MEOW:MGgn0028798 (39%) |species == Yeast; gene == ISW1; score == 393; expect == 3e-109; MEOW:SGgn0000449 (40%) |species == Yeast; gene == SNF2; score == 384; expect == 3e-106; MEOW:SGgn0005816 (36%) } # EOR GENR { RETE|ID 1 HUgn0001109 CHR 1 10 DID 1 LocusLink:1109 MAP 1 10p15-p14 NAM 1 aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) ORG 1 Homo sapiens SYM 1 AKR1C4 ID|HUgn0001109 DID|LocusLink:1109 ORG|Homo sapiens RSQ|REFSEQ:NM_001818 RPA|REFPROT:NP_001809 DBA|XM:NM_001818 |NA:AB032163 |NA:AB031085 |NA:AB045829 |NA:BC020744 |NA:D26125 |NA:M33375 |NA:S68287 |NA:none PAC|XP:NP_001809 SYM|AKR1C4 NAM|aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) SYN|C11 |CDR |DD4 |CHDR |HAKRA |MGC22581 |3-alpha-HSD FNC|aldo-keto reductase family 1, member C4 |androgen metabolism ; GO:0008209 |bile acid transport ; GO:0015721 REAB|This gene encodes a member of the aldo/keto reductase superfamily, which consists |of more than 40 known enzymes and proteins. These enzymes catalyze the conversion |of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or |NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. |This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, |to chlordecone alcohol in liver. This gene shares high sequence identity with three |other gene members and is clustered with those three genes at chromosome 10p15-p14. CHR|10 PRD|chlordecone reductase |dihydrodiol dehydrogenase 4 |dihydrodiol dehydrogenase isozyme DD4 |type I 3-alpha-hydroxysteroid dehydrogenase |3-alpha-hydroxysteroid dehydrogenase variant URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177687 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127896 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001818 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001818 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177687 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 DBL|UNIGENE:Hs.177687 |OMIM:600451 |SNP:1109 ENZ|EC:1.1.1.50 |EC:1.3.1.20 |EC:1.1.1.213 |EC:1.1.1.225 |aldo-keto reductase activity ; GO:0004033 |bile acid transporter activity ; GO:0015125 |electron transporter activity ; GO:0005489 |3-alpha-hydroxysteroid dehydrogenase (B-specific) activity ; GO:0047042 |chlordecone reductase activity ; GO:0047743 MAP|10p15-p14 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == AKR1C1; score == 558; expect == 1e-159; MEOW:HUgn0001645 (82%) |species == Human; gene == AKR1C3; score == 558; expect == 2e-159; MEOW:HUgn0008644 (83%) |species == Human; gene == AKR1C2; score == 548; expect == 1e-156; MEOW:HUgn0001646 (81%) |species == Mouse; gene == Akr1c6; score == 512; expect == 6e-146; MEOW:MGgn0028379 (75%) |species == rat; score == 490; expect == 6e-139; MEOW:ref|XP_225538.2| (73%) |species == rat; score == 479; expect == 9e-136; MEOW:ref|XP_341551.1| (69%) |species == Mouse; gene == Akr1c18; score == 476; expect == 4e-135; MEOW:MGgn0036174 (70%) |species == Mouse; gene == Akr1c21; score == 473; expect == 3e-134; MEOW:MGgn0027177 (71%) |species == rat; score == 473; expect == 6e-134; MEOW:ref|XP_346502.1| (69%) |species == Mouse; gene == 9030611N15Rik; score == 469; expect == 6e-133; MEOW:MGgn0037076 (69%) |species == rat; score == 467; expect == 3e-132; MEOW:ref|XP_341550.1| (67%) |species == Mouse; gene == Akr1c12; score == 466; expect == 1e-131; MEOW:MGgn0013337 (67%) |species == rat; score == 465; expect == 1e-131; MEOW:ref|NP_612519.1| (67%) |species == Mouse; gene == Akr1c13; score == 456; expect == 5e-129; MEOW:MGgn0013338 (65%) |species == rat; score == 456; expect == 1e-128; MEOW:ref|XP_225537.2| (71%) |species == Mouse; gene == 4921521F21Rik; score == 446; expect == 4e-126; MEOW:MGgn0023244 (72%) |species == rat; score == 432; expect == 1e-121; MEOW:ref|XP_225541.2| (66%) |species == rat; score == 431; expect == 3e-121; MEOW:ref|XP_344627.1| (66%) |species == rat; score == 401; expect == 3e-112; MEOW:ref|XP_225544.2| (63%) |species == rat; score == 394; expect == 4e-110; MEOW:ref|XP_344626.1| (63%) |species == Fruitfly; gene == CG6084; score == 299; expect == 9.3e-82; MEOW:FBgn0036182 (47%) |species == Mosquito; gene == LOC3966; score == 277; expect == 2.8e-75; MEOW:AGgn0003966 (44%) |species == Mosquito; gene == LOC23501; score == 271; expect == 2.6e-73; MEOW:AGgn0023501 (45%) |species == Mosquito; gene == LOC23298; score == 267; expect == 2.9e-72; MEOW:AGgn0023298 (45%) |species == Mosquito; gene == LOC18090; score == 264; expect == 3.2e-71; MEOW:AGgn0018090 (43%) |species == Mosquito; score == 264; expect == 3.2e-71; MEOW:AGgn0019779 (43%) |species == Mosquito; gene == LOC19781; score == 264; expect == 2.4e-71; MEOW:AGgn0019781 (46%) |species == Mosquito; gene == LOC23237; score == 264; expect == 3.2e-71; MEOW:AGgn0023237 (47%) |species == Fruitfly; gene == CG10863; score == 246; expect == 1.2e-65; MEOW:FBgn0027552 (41%) |species == Fruitfly; gene == CG12766; score == 245; expect == 1.2e-65; MEOW:FBgn0035476 (43%) |species == Worm; gene == Y39G8B.1a; score == 243; expect == 9.3e-65; MEOW:CEgn0018487 (40%) |species == Fruitfly; gene == CG6083; score == 243; expect == 1.0e-64; MEOW:FBgn0036183 (40%) |species == Mosquito; score == 233; expect == 4.6e-62; MEOW:AGgn0015026 (41%) |species == Worm; gene == Y39G8B.1b; score == 233; expect == 9.6e-62; MEOW:CEgn0018488 (39%) |species == Mosquito; score == 224; expect == 2.1e-59; MEOW:AGgn0019775 (39%) |species == Mosquito; score == 222; expect == 1.1e-58; MEOW:AGgn0018089 (38%) |species == Weed; gene == At2g37790; score == 215; expect == 2.3e-56; MEOW:ATgn0008894 (40%) |species == Weed; gene == At2g37770; score == 209; expect == 1.2e-54; MEOW:ATgn0008892 (42%) |species == Weed; gene == M6PR; score == 209; expect == 1.2e-54; MEOW:ATgn0009960 (40%) |species == Weed; gene == At1g59960; score == 208; expect == 2.8e-54; MEOW:ATgn0004631 (39%) |species == rice; score == 207; expect == 1.4e-53; MEOW:gnl|TIGR|8353.m03362 (43%) |species == Worm; gene == T08H10.1; score == 206; expect == 1.1e-53; MEOW:CEgn0015849 (37%) |species == Yeast; gene == GCY1; score == 206; expect == 1.0e-53; MEOW:SGgn0005646 (39%) |species == Worm; gene == C07D8.6; score == 204; expect == 2.8e-53; MEOW:CEgn0004303 (38%) |species == Yeast; gene == YPR1; score == 204; expect == 1.1e-53; MEOW:SGgn0002776 (40%) |species == Weed; gene == M6PR; score == 202; expect == 1.9e-52; MEOW:ATgn0009959 (39%) |species == rice; score == 201; expect == 1.3e-51; MEOW:gnl|TIGR|8362.m00128 (37%) |species == Weed; gene == At2g37760; score == 199; expect == 1.6e-51; MEOW:ATgn0008891 (40%) |species == Worm; gene == Y39G8B.2; score == 198; expect == 2.6e-51; MEOW:CEgn0018489 (34%) |species == Weed; gene == At3g53880; score == 197; expect == 6.5e-51; MEOW:ATgn0013266 (41%) |species == Weed; gene == At1g59950; score == 196; expect == 1.1e-50; MEOW:ATgn0004629 (39%) |species == Weed; gene == At5g62420; score == 196; expect == 1.1e-50; MEOW:ATgn0022357 (36%) |species == rice; score == 196; expect == 3.1e-50; MEOW:gnl|TIGR|8350.m05901 (40%) |species == rice; score == 196; expect == 1.5e-50; MEOW:gnl|TIGR|8352.m03407 (38%) |species == rice; score == 195; expect == 5.3e-50; MEOW:gnl|TIGR|8350.m07058 (39%) |species == rice; score == 195; expect == 3.2e-50; MEOW:gnl|TIGR|8352.m03406 (38%) |species == Yeast; gene == GRE3; score == 193; expect == 1.2e-49; MEOW:SGgn0001146 (37%) |species == Weed; gene == At5g01670; score == 191; expect == 6.0e-49; MEOW:ATgn0022208 (35%) |species == rice; score == 189; expect == 2.9e-48; MEOW:gnl|TIGR|8351.m00211 (38%) |species == rice; score == 188; expect == 6.5e-48; MEOW:gnl|TIGR|8352.m03405 (35%) |species == rice; score == 188; expect == 1.1e-47; MEOW:gnl|TIGR|8362.m00119 (35%) |species == rice; score == 186; expect == 3.2e-47; MEOW:gnl|TIGR|8360.m01179 (36%) |species == rice; score == 184; expect == 7.3e-47; MEOW:gnl|TIGR|8362.m00120 (35%) |species == Yeast; gene == YJR096W; score == 167; expect == 2.0e-42; MEOW:SGgn0003857 (33%) |species == ecoli; score == 132; expect == 2.4e-32; MEOW:ref|NP_417485.1| (34%) |species == ecoli; score == 129; expect == 3.4e-31; MEOW:ref|NP_414743.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0001110 CHR 1 2 DID 1 LocusLink:1110 MAP 1 2q33-q35 NAM 1 cholinesterase (serum) 2 ORG 1 Homo sapiens SYM 1 CHE2 ID|HUgn0001110 DID|LocusLink:1110 ORG|Homo sapiens SYM|CHE2 NAM|cholinesterase (serum) 2 CHR|2 DBL|OMIM:177500 MAP|2q33-q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119776 } # EOR GENR { RETE|ID 1 HUgn0001111 CHR 1 11 DID 1 LocusLink:1111 MAP 1 11q24-q24 NAM 1 CHK1 checkpoint homolog (S. pombe) ORG 1 Homo sapiens SYM 1 CHEK1 ID|HUgn0001111 DID|LocusLink:1111 ORG|Homo sapiens RSQ|REFSEQ:NM_001274 RPA|REFPROT:NP_001265 DBA|XM:NM_001274 |NA:AF016582 |NA:AF032874 |NA:BC004202 |NA:BC017575 |NA:none PAC|XP:NP_001265 SYM|CHEK1 NAM|CHK1 checkpoint homolog (S. pombe) SYN|CHK1 FNC|CHK1 checkpoint homolog |gametogenesis ; GO:0007276 |DNA damage response, signal transduction resulting in cell cycle arrest ; GO:0000077 |meiotic recombination ; GO:0007131 |negative regulation of cell proliferation ; GO:0008285 |response to DNA damage stimulus ; GO:0006974 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |protein amino acid phosphorylation ; GO:0006468 CHR|11 PRD|CHK1 (checkpoint, S.pombe) homolog |Checkpoint, S. pombe, homolog of, 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24529 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1111[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834732 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001274 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001274 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=24529 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.24529 |OMIM:603078 |SNP:1111 MAP|11q24-q24 ENZ|ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 CEL|meiotic chromosome ; GO:0005711 |nucleus ; GO:0005634 HG|species == rat; score == 935; expect == 0.0; MEOW:ref|NP_536325.1| (94%) |species == Mouse; gene == Chek1; score == 926; expect == 0.0; MEOW:MGgn0001338 (93%) |species == Mosquito; score == 482; expect == 1e-136; MEOW:AGgn0010533 (52%) |species == Fruitfly; gene == grp; score == 419; expect == 1e-117; MEOW:FBgn0011598 (45%) |species == Worm; gene == chk-1; score == 293; expect == 7.5e-80; MEOW:CEgn0029084 (38%) |species == Weed; gene == At5g21326; score == 219; expect == 2.0e-57; MEOW:ATgn0030555 (31%) |species == rice; score == 202; expect == 9.5e-52; MEOW:gnl|TIGR|8350.m05704 (39%) |species == rice; score == 202; expect == 7.3e-52; MEOW:gnl|TIGR|8360.m00247 (31%) |species == Weed; gene == At1g01140; score == 198; expect == 4.8e-51; MEOW:ATgn0002263 (28%) |species == Weed; gene == At2g26980; score == 198; expect == 6.3e-51; MEOW:ATgn0009853 (36%) |species == rice; score == 197; expect == 2.3e-50; MEOW:gnl|TIGR|8351.m00562 (30%) |species == Weed; gene == At1g30270; score == 196; expect == 2.4e-50; MEOW:ATgn0006439 (29%) |species == Weed; gene == At4g24400; score == 194; expect == 9.1e-50; MEOW:ATgn0019018 (41%) |species == rice; score == 189; expect == 6.4e-48; MEOW:gnl|TIGR|8355.m00462 (30%) |species == rice; score == 187; expect == 3.2e-47; MEOW:gnl|TIGR|8354.m03743 (29%) |species == rice; score == 187; expect == 2.4e-47; MEOW:gnl|TIGR|8360.m01877 (29%) |species == rice; score == 184; expect == 2.7e-46; MEOW:gnl|TIGR|8358.m00297 (29%) |species == Weed; gene == At5g35410; score == 183; expect == 2.1e-46; MEOW:ATgn0021630 (28%) |species == Yeast; gene == CHK1; score == 183; expect == 4.5e-47; MEOW:SGgn0000478 (28%) |species == rice; score == 183; expect == 6.0e-46; MEOW:gnl|TIGR|8353.m03525 (30%) |species == rice; score == 183; expect == 3.5e-46; MEOW:gnl|TIGR|8358.m00122 (28%) |species == rice; score == 183; expect == 4.6e-46; MEOW:gnl|TIGR|8359.m00133 (36%) |species == Weed; gene == At2g30360; score == 182; expect == 3.6e-46; MEOW:ATgn0007878 (35%) |species == Weed; gene == At1g29230; score == 181; expect == 8.0e-46; MEOW:ATgn0004437 (37%) |species == Weed; gene == At4g18700; score == 179; expect == 3.0e-45; MEOW:ATgn0019786 (34%) |species == Weed; gene == At5g07070; score == 179; expect == 3.9e-45; MEOW:ATgn0021221 (33%) |species == Human; gene == MARK2; score == 174; expect == 1.3e-43; MEOW:HUgn0002011 (37%) |species == Yeast; gene == GIN4; score == 171; expect == 3.0e-43; MEOW:SGgn0002915 (37%) |species == Yeast; gene == SNF1; score == 169; expect == 8.7e-43; MEOW:SGgn0002885 (35%) |species == Yeast; gene == HSL1; score == 168; expect == 1.5e-42; MEOW:SGgn0001584 (34%) |species == Human; gene == MARK1; score == 167; expect == 1.2e-41; MEOW:HUgn0004139 (37%) |species == Human; gene == MARK3; score == 167; expect == 1.2e-41; MEOW:HUgn0004140 (35%) |species == Yeast; gene == KCC4; score == 165; expect == 1.3e-41; MEOW:SGgn0000529 (38%) |species == Human; gene == MARK4; score == 164; expect == 1.0e-40; MEOW:HUgn0057787 (35%) |species == Human; gene == KIAA1811; score == 163; expect == 2.2e-40; MEOW:HUgn0084446 (34%) |species == Human; gene == MELK; score == 161; expect == 1.1e-39; MEOW:HUgn0009833 (34%) |species == Human; gene == STK29; score == 159; expect == 3.2e-39; MEOW:HUgn0009024 (34%) |species == Human; gene == SNF1LK; score == 159; expect == 3.2e-39; MEOW:HUgn0150094 (29%) |species == Human; gene == PRKAA1; score == 156; expect == 2.7e-38; MEOW:HUgn0005562 (34%) |species == Yeast; gene == KIN4; score == 154; expect == 2.9e-38; MEOW:SGgn0005759 (34%) |species == Yeast; gene == YPL141C; score == 153; expect == 6.5e-38; MEOW:SGgn0006062 (37%) |species == Yeast; gene == KIN1; score == 151; expect == 1.9e-37; MEOW:SGgn0002529 (28%) } # EOR GENR { RETE|ID 1 HUgn0001112 CHR 1 14 DID 1 LocusLink:1112 MAP 1 14q24.3-q31 NAM 1 checkpoint suppressor 1 ORG 1 Homo sapiens SYM 1 CHES1 ID|HUgn0001112 DID|LocusLink:1112 ORG|Homo sapiens RSQ|REFSEQ:NM_005197 RPA|REFPROT:NP_005188 DBA|XM:NM_005197 |NA:BC007506 |NA:BC010227 |NA:U68723 |NA:none PAC|XP:NP_005188 SYM|CHES1 NAM|checkpoint suppressor 1 SYN|FOXN3 FNC|checkpoint suppressor 1 |DNA damage response, signal transduction resulting in cell cycle arrest ; GO:0000077 |G2 phase of mitotic cell cycle ; GO:0000085 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|Checkpoint suppresor 1 is a member of the forkhead/winged helix transcription factor |family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 |and G2. Checkpoint suppresor 1 suppresses multiple yeast checkpoint mutations including |mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=211773 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1112[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9120567 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005197 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005197 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=211773 DBL|UNIGENE:Hs.211773 |OMIM:602628 |SNP:1112 MAP|14q24.3-q31 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 403; expect == 1e-112; MEOW:ref|XP_234377.2| (94%) |species == Human; gene == LOC139707; score == 308; expect == 2.3e-84; MEOW:HUgn0139707 (81%) |species == Human; gene == HTLF; score == 254; expect == 4.8e-68; MEOW:HUgn0003344 (44%) |species == Mouse; gene == Foxn2; score == 214; expect == 2.7e-56; MEOW:MGgn0004408 (53%) |species == Mosquito; score == 154; expect == 7.8e-38; MEOW:AGgn0011309 (65%) |species == Fruitfly; gene == CHES-1-like; score == 150; expect == 9.0e-37; MEOW:FBgn0029504 (61%) } # EOR GENR { RETE|ID 1 HUgn0001113 CHR 1 14 DID 1 LocusLink:1113 MAP 1 14q32 NAM 1 chromogranin A (parathyroid secretory protein 1) ORG 1 Homo sapiens SYM 1 CHGA ID|HUgn0001113 DID|LocusLink:1113 ORG|Homo sapiens RSQ|REFSEQ:NM_001275 RPA|REFPROT:NP_001266 DBA|XM:NM_001275 |NA:U03742 |NA:U03746 |NA:U03747 |NA:U03749 |NA:BC001059 |NA:BC006459 |NA:BC009384 |NA:BC012755 |NA:BT006869 |NA:J03483 |NA:J03915 |NA:none PAC|XP:NP_001266 SYM|CHGA NAM|chromogranin A (parathyroid secretory protein 1) SYN|CGA FNC|chromogranin A |regulation of blood pressure ; GO:0008217 REAB|The protein encoded by this gene is a member of the chromogranin/secretogranin family |of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons |and endocrine cells. This gene product is a precursor to three biologically active |peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine |or paracrine negative modulators of the neuroendocrine system. Other peptides, including |chromostatin, beta-granin, WE-14 and GE-25, are also derived from the full-length |protein. However, biological activities for these molecules have not been shown. CHR|14 PRD|parathyroid secretory protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=124411 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1113[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119777 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001275 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001275 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=124411 DBL|UNIGENE:Hs.124411 |OMIM:118910 |SNP:1113 MAP|14q32 ENZ|calcium ion binding ; GO:0005509 CEL|synaptic vesicle ; GO:0008021 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Chga; score == 444; expect == 6e-125; MEOW:MGgn0001341 (61%) |species == rat; score == 259; expect == 2.9e-69; MEOW:ref|XP_346782.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0001114 CHR 1 20 DID 1 LocusLink:1114 MAP 1 20pter-p12 NAM 1 chromogranin B (secretogranin 1) ORG 1 Homo sapiens SYM 1 CHGB ID|HUgn0001114 DID|LocusLink:1114 ORG|Homo sapiens RSQ|REFSEQ:NM_001819 RPA|REFPROT:NP_001810 DBA|XM:NM_001819 |NA:BC000375 |NA:Y00064 |NA:none PAC|XP:NP_001810 SYM|CHGB NAM|chromogranin B (secretogranin 1) SYN|SCG1 FNC|chromogranin B precursor |regulation of transcription, DNA-dependent ; GO:0006355 REAB|Chromogranin B is a tyrosine-sulfated secretory protein found in a wide variety of |peptidergic endocrine cells. Chromogranin functions as a neuroendocrine secretory |granule protein which may be the precursor for other biologically active peptides. CHR|20 PRD|Chromogranin B (secretogranin B) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2281 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1114[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118770 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001819 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001819 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2281 DBL|UNIGENE:Hs.2281 |OMIM:118920 |SNP:1114 MAP|20pter-p12 ENZ|DNA binding ; GO:0003677 |peptide hormone ; GO:0005180 CEL|extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == rat; score == 626; expect == 1e-179; MEOW:ref|NP_036658.1| (63%) |species == Mouse; gene == Chgb; score == 600; expect == 6e-172; MEOW:MGgn0001342 (61%) } # EOR GENR { RETE|ID 1 HUgn0001116 CHR 1 1 DID 1 LocusLink:1116 MAP 1 1q32.1 NAM 1 chitinase 3-like 1 (cartilage glycoprotein-39) ORG 1 Homo sapiens SYM 1 CHI3L1 ID|HUgn0001116 DID|LocusLink:1116 ORG|Homo sapiens RSQ|REFSEQ:NM_001276 RPA|REFPROT:NP_001267 DBA|XM:NM_001276 |NA:AJ251847 |NA:Y08374 |NA:AK130142 |NA:AK130200 |NA:BC008568 |NA:BC034684 |NA:BC038354 |NA:BC039132 |NA:BT007223 |NA:M80927 |NA:none PAC|XP:NP_001267 SYM|CHI3L1 NAM|chitinase 3-like 1 (cartilage glycoprotein-39) SYN|GP39 |YKL40 |HC-gp39 |HCGP-3P FNC|chitinase 3-like 1 |metabolism ; GO:0008152 CHR|1 PRD|cartilage glycoprotein-39 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=382202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1116[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269865 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001276 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001276 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=382202 DBL|UNIGENE:Hs.382202 |OMIM:601525 |SNP:1116 MAP|1q32.1 ENZ|extracellular matrix structural constituent ; GO:0005201 |hydrolase activity ; GO:0016787 CEL|extracellular matrix ; GO:0005578 |extracellular space ; GO:0005615 HG|species == rat; score == 636; expect == 0.0; MEOW:ref|XP_341124.1| (80%) |species == Mouse; gene == Chi3l1; score == 566; expect == 6e-162; MEOW:MGgn0001343 (73%) |species == Human; gene == CHIT1; score == 399; expect == 2e-111; MEOW:HUgn0001118 (52%) |species == Human; gene == CHI3L2; score == 396; expect == 9e-111; MEOW:HUgn0001117 (51%) |species == Mosquito; score == 339; expect == 4.9e-93; MEOW:AGgn0021620 (44%) |species == Fruitfly; gene == CG1869; score == 337; expect == 2.7e-92; MEOW:FBgn0035398 (45%) |species == Fruitfly; gene == CG2989; score == 302; expect == 2.6e-81; MEOW:FBgn0030171 (40%) |species == Mosquito; gene == LOC17161; score == 284; expect == 3.4e-76; MEOW:AGgn0017161 (41%) |species == Mosquito; gene == LOC19291; score == 284; expect == 3.7e-77; MEOW:AGgn0019291 (40%) |species == Worm; gene == cht-1; score == 264; expect == 1.3e-70; MEOW:CEgn0000228 (38%) |species == Weed; gene == At4g19810; score == 160; expect == 1.4e-39; MEOW:ATgn0017176 (31%) |species == Weed; gene == At4g19800; score == 157; expect == 7.5e-39; MEOW:ATgn0017174 (32%) |species == Weed; gene == At4g19750; score == 139; expect == 1.9e-33; MEOW:ATgn0017146 (30%) |species == Weed; gene == At4g19760; score == 135; expect == 3.5e-32; MEOW:ATgn0017148 (30%) |species == rice; score == 135; expect == 6.1e-32; MEOW:gnl|TIGR|8358.m01985 (33%) |species == Weed; gene == At4g19820; score == 131; expect == 6.7e-31; MEOW:ATgn0017178 (31%) } # EOR GENR { RETE|ID 1 HUgn0001117 CHR 1 1 DID 1 LocusLink:1117 MAP 1 1p13.3 NAM 1 chitinase 3-like 2 ORG 1 Homo sapiens SYM 1 CHI3L2 ID|HUgn0001117 DID|LocusLink:1117 ORG|Homo sapiens RSQ|REFSEQ:NM_004000 RPA|REFPROT:NP_003991 DBA|XM:NM_004000 |NA:BC011460 |NA:BT006767 |NA:U49835 |NA:U58514 |NA:U58515 |NA:none PAC|XP:NP_003991 SYM|CHI3L2 NAM|chitinase 3-like 2 SYN|YKL39 |YKL-39 FNC|chitinase 3-like 2 |metabolism ; GO:0008152 CHR|1 PRD|chondrocyte protein 39 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154138 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1117[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438339 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004000 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004000 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154138 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26464 DBL|UNIGENE:Hs.154138 |OMIM:601526 |SNP:1117 MAP|1p13.3 CEL|extracellular space ; GO:0005615 ENZ|hydrolase activity ; GO:0016787 HG|species == rat; score == 409; expect == 1e-114; MEOW:ref|XP_341124.1| (52%) |species == Human; gene == CHIT1; score == 400; expect == 8e-112; MEOW:HUgn0001118 (52%) |species == Human; gene == CHI3L1; score == 396; expect == 9e-111; MEOW:HUgn0001116 (51%) |species == Mouse; gene == 2200003E03Rik; score == 374; expect == 5e-104; MEOW:MGgn0028481 (48%) |species == rat; score == 353; expect == 1.4e-97; MEOW:ref|XP_213878.2| (48%) |species == Mouse; gene == Chi3l1; score == 351; expect == 2.2e-97; MEOW:MGgn0001343 (48%) |species == rat; score == 342; expect == 1.9e-94; MEOW:ref|XP_227565.2| (46%) |species == Mouse; gene == Chi3l3; score == 334; expect == 7.6e-92; MEOW:MGgn0001344 (43%) |species == Mouse; gene == Chi3l4; score == 329; expect == 1.9e-90; MEOW:MGgn0001345 (43%) |species == Human; gene == OVGP1; score == 323; expect == 7.6e-89; MEOW:HUgn0005016 (46%) |species == Mosquito; score == 318; expect == 6.9e-87; MEOW:AGgn0021620 (45%) |species == Mouse; gene == Chit1; score == 314; expect == 3.9e-86; MEOW:MGgn0019437 (49%) |species == Fruitfly; gene == CG1869; score == 312; expect == 9.3e-85; MEOW:FBgn0035398 (44%) |species == Fruitfly; gene == CG2989; score == 287; expect == 1.1e-76; MEOW:FBgn0030171 (40%) |species == Mosquito; gene == LOC19291; score == 276; expect == 1.5e-74; MEOW:AGgn0019291 (40%) |species == Mosquito; gene == LOC17161; score == 275; expect == 2.1e-73; MEOW:AGgn0017161 (40%) |species == Mosquito; score == 263; expect == 1.2e-70; MEOW:AGgn0016355 (37%) |species == Fruitfly; gene == Cht3; score == 263; expect == 2.5e-70; MEOW:FBgn0022701 (37%) |species == Worm; gene == cht-1; score == 262; expect == 3.7e-70; MEOW:CEgn0000228 (37%) |species == Weed; gene == At4g19810; score == 162; expect == 2.8e-40; MEOW:ATgn0017176 (32%) |species == Weed; gene == At4g19800; score == 146; expect == 2.9e-35; MEOW:ATgn0017174 (30%) |species == Weed; gene == At4g19720; score == 144; expect == 6.3e-35; MEOW:ATgn0017138 (30%) |species == Weed; gene == At4g19730; score == 142; expect == 3.1e-34; MEOW:ATgn0017140 (30%) |species == Weed; gene == At4g19820; score == 141; expect == 5.0e-34; MEOW:ATgn0017178 (30%) |species == Weed; gene == At4g19750; score == 133; expect == 1.7e-31; MEOW:ATgn0017146 (29%) |species == Weed; gene == At4g19760; score == 131; expect == 5.1e-31; MEOW:ATgn0017148 (31%) } # EOR GENR { RETE|ID 1 HUgn0001118 CHR 1 1 DID 1 LocusLink:1118 MAP 1 1q31-q32 NAM 1 chitinase 1 (chitotriosidase) ORG 1 Homo sapiens SYM 1 CHIT1 ID|HUgn0001118 DID|LocusLink:1118 ORG|Homo sapiens RSQ|REFSEQ:NM_003465 RPA|REFPROT:NP_003456 DBA|XM:NM_003465 |NA:AK055165 |NA:U29615 |NA:U62662 PAC|XP:NP_003456 SYM|CHIT1 NAM|chitinase 1 (chitotriosidase) SYN|CHIT FNC|chitotriosidase |response to bacteria ; GO:0009617 |response to pest/pathogen/parasite ; GO:0009613 |carbohydrate metabolism ; GO:0005975 |chitin catabolism ; GO:0006032 REAB|Chitotriosidase is secreted by activated human macrophages and is markedly elevated |in plasma of Gaucher disease patients. The expression of chitotriosidase occurs |only at a late stage of differentiation of monocytes to activated macrophages in |culture. Human macrophages can synthesize a functional chitotriosidase, a highly |conserved enzyme with a strongly regulated expression. This enzyme may play a role |in the degradation of chitin-containing pathogens. CHR|1 PRD|plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=201688 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1118[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1313470 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_003465 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_003465 DBL|UNIGENE:Hs.201688 |OMIM:600031 |SNP:1118 MAP|1q31-q32 PHP|Chitotriosidase deficiency ENZ|chitinase activity ; GO:0004568 |chitin binding ; GO:0008061 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 696; expect == 0.0; MEOW:ref|XP_213878.2| (76%) |species == Mouse; gene == Chit1; score == 523; expect == 5e-149; MEOW:MGgn0019437 (76%) |species == Mouse; gene == 2200003E03Rik; score == 503; expect == 7e-143; MEOW:MGgn0028481 (51%) |species == Human; gene == CHI3L2; score == 400; expect == 8e-112; MEOW:HUgn0001117 (52%) |species == Human; gene == CHI3L1; score == 399; expect == 2e-111; MEOW:HUgn0001116 (52%) |species == Fruitfly; gene == CG1869; score == 391; expect == 1e-108; MEOW:FBgn0035398 (52%) |species == Mosquito; score == 384; expect == 1e-106; MEOW:AGgn0021620 (51%) |species == Human; gene == CHIA; score == 360; expect == 9e-100; MEOW:HUgn0027159 (48%) |species == Worm; gene == cht-1; score == 354; expect == 6.0e-98; MEOW:CEgn0000228 (39%) |species == Human; gene == OVGP1; score == 348; expect == 3.6e-96; MEOW:HUgn0005016 (46%) |species == Fruitfly; gene == CG2989; score == 341; expect == 5.1e-93; MEOW:FBgn0030171 (41%) |species == Mosquito; gene == LOC20485; score == 315; expect == 1.9e-86; MEOW:AGgn0020485 (36%) |species == Mosquito; gene == LOC19291; score == 312; expect == 1.2e-85; MEOW:AGgn0019291 (44%) |species == Mosquito; score == 311; expect == 3.9e-85; MEOW:AGgn0016355 (42%) |species == Weed; gene == At4g19810; score == 204; expect == 6.5e-53; MEOW:ATgn0017176 (36%) |species == Weed; gene == At4g19800; score == 193; expect == 2.1e-49; MEOW:ATgn0017174 (35%) |species == Weed; gene == At4g19820; score == 164; expect == 9.3e-41; MEOW:ATgn0017178 (32%) } # EOR GENR { RETE|ID 1 HUgn0001119 CHR 1 11 DID 1 LocusLink:1119 MAP 1 11q13.1 NAM 1 choline kinase ORG 1 Homo sapiens SYM 1 CHK ID|HUgn0001119 DID|LocusLink:1119 ORG|Homo sapiens RSQ|REFSEQ:NM_001277 RPA|REFPROT:NP_001268 DBA|XM:NM_001277 |NA:BC036471 |NA:D10704 |NA:none PAC|XP:NP_001268 SYM|CHK NAM|choline kinase SYN|CKI FNC|choline kinase |lipid transport ; GO:0006869 |lipid metabolism ; GO:0006629 REAB|The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline |pathway. Choline kinase, the initial enzyme in the sequence, may play a regulatory |role. Choline kinase also catalyzes the phosphorylation of ethanolamine. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77221 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1119[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135681 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001277 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001277 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.77221 |OMIM:118491 |SNP:1119 ENZ|EC:2.7.1.32 |choline kinase activity ; GO:0004103 |signal transducer activity ; GO:0004871 |transferase activity ; GO:0016740 MAP|11q13.1 HG|species == Mouse; gene == Chk; score == 665; expect == 0.0; MEOW:MGgn0001350 (81%) |species == rat; score == 648; expect == 0.0; MEOW:ref|NP_058823.1| (82%) |species == Human; gene == CHKL; score == 445; expect == 2e-125; MEOW:HUgn0001120 (60%) |species == Weed; gene == At2g26830; score == 173; expect == 1.6e-43; MEOW:ATgn0009826 (33%) |species == Weed; gene == At1g74320; score == 166; expect == 2.3e-41; MEOW:ATgn0000212 (33%) |species == rice; score == 161; expect == 4.4e-40; MEOW:gnl|TIGR|8350.m00779 (33%) |species == rice; score == 160; expect == 1.0e-39; MEOW:gnl|TIGR|8350.m04812 (34%) |species == rice; score == 156; expect == 1.4e-38; MEOW:gnl|TIGR|8353.m04082 (32%) |species == Weed; gene == At1g71697; score == 150; expect == 1.4e-36; MEOW:ATgn0027205 (30%) |species == Fruitfly; gene == CG2201; score == 144; expect == 9.0e-35; MEOW:FBgn0032955 (28%) } # EOR GENR { RETE|ID 1 HUgn0001120 CHR 1 22 DID 1 LocusLink:1120 MAP 1 22q13.33 NAM 1 choline kinase-like ORG 1 Homo sapiens SYM 1 CHKL ID|HUgn0001120 DID|LocusLink:1120 ORG|Homo sapiens RSQ|REFSEQ:NM_005198 |REFSEQ:NM_152253 RPA|REFPROT:NP_005189 |REFPROT:NP_689466 DBA|XM:NM_005198 |XM:NM_152253 |NA:AB003286 |NA:AB029885 |NA:U62317 |NA:AB029886 |NA:AB051457 |NA:AK097775 |NA:AL096780 |NA:AL096781 |NA:BC024286 |NA:BC056404 |NA:BE676287 |NA:none PAC|XP:NP_005189 |XP:NP_689466 SYM|CHKL NAM|choline kinase-like SYN|CHETK FNC|choline/ethanolamine kinase isoform a |choline/ethanolamine kinase isoform b REAB|Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of |choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme |in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal |cells. The highly purified CKs from mammalian sources and their recombinant gene |products have been shown to have EK activity also, indicating that both activities |reside on the same protein. The choline kinase-like protein encoded by CHKL belongs |to the choline/ethanolamine kinase family; however, its exact function is not known. |At least two transcript variants encoding two different isoforms have been found |for this gene, and one of the transcripts is bicistronic. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439777 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5302697 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152253 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152253 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439777 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.439777 |SNP:1120 ENZ|EC:2.7.1.32 |EC:2.7.1.82 |choline kinase activity ; GO:0004103 |ethanolamine kinase activity ; GO:0004305 |transferase activity ; GO:0016740 MAP|22q13.33 HG|species == Mouse; gene == Chkl; score == 686; expect == 0.0; MEOW:MGgn0001340 (87%) |species == rat; score == 676; expect == 0.0; MEOW:ref|NP_058873.1| (86%) |species == Human; gene == CHK; score == 445; expect == 2e-125; MEOW:HUgn0001119 (60%) |species == Weed; gene == At2g26830; score == 189; expect == 3.0e-48; MEOW:ATgn0009826 (34%) |species == rice; score == 186; expect == 4.3e-47; MEOW:gnl|TIGR|8350.m04812 (30%) |species == rice; score == 182; expect == 6.2e-46; MEOW:gnl|TIGR|8350.m00779 (34%) |species == Weed; gene == At1g74320; score == 177; expect == 5.9e-45; MEOW:ATgn0000212 (31%) |species == rice; score == 177; expect == 2.0e-44; MEOW:gnl|TIGR|8353.m04082 (31%) |species == Weed; gene == At1g71697; score == 176; expect == 2.6e-44; MEOW:ATgn0027205 (34%) |species == Weed; gene == At4g09760; score == 174; expect == 7.7e-44; MEOW:ATgn0020802 (33%) |species == Fruitfly; gene == eas; score == 147; expect == 1.1e-35; MEOW:FBgn0000536 (30%) |species == Fruitfly; gene == CG2201; score == 144; expect == 1.2e-34; MEOW:FBgn0032955 (39%) |species == Mosquito; score == 137; expect == 5.8e-33; MEOW:AGgn0020429 (30%) } # EOR GENR { RETE|ID 1 HUgn0001121 CHR 1 X DID 1 LocusLink:1121 MAP 1 Xq21.2 NAM 1 choroideremia (Rab escort protein 1) ORG 1 Homo sapiens SYM 1 CHM ID|HUgn0001121 DID|LocusLink:1121 ORG|Homo sapiens RSQ|REFSEQ:NM_000390 RPA|REFPROT:NP_000381 DBA|XM:NM_000390 |NA:M83773 |NA:X78121 |NA:none PAC|XP:NP_000381 SYM|CHM NAM|choroideremia (Rab escort protein 1) SYN|TCD |GGTA |REP-1 |DXS540 FNC|choroideremia (Rab escort protein 1) |C-terminal protein geranylgeranylation ; GO:0006504 |nonselective vesicle transport ; GO:0006899 |vision ; GO:0007601 |intracellular protein transport ; GO:0006886 REAB|The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking.[supplied by OMIM] CHR|X PRD|REP-1, Rab escort protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416244 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1121[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120400 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000390 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000390 |http://www.geneclinics.org/query?mim=303100 |http://www.geneclinics.org/query?mim=300390 |http://www.retina-international.com/sci-news/repmut.htm DBL|UNIGENE:Hs.416244 |OMIM:300390 |SNP:1121 |UWCM:120400.html |IXDB:541501 MAP|Xq21.2 PHP|Choroideremia ENZ|RAB-protein geranylgeranyltransferase activity ; GO:0004663 |GTPase activator activity ; GO:0005096 |Rab escort protein activity ; GO:0005084 CEL|Rab-protein geranylgeranyltransferase complex ; GO:0005968 HG|species == rat; score == 1069; expect == 0.0; MEOW:ref|NP_058763.1| (83%) |species == Mouse; gene == Chm; score == 1052; expect == 0.0; MEOW:MGgn0001352 (81%) |species == Human; gene == CHML; score == 896; expect == 0.0; MEOW:HUgn0001122 (71%) |species == Mosquito; score == 251; expect == 6.9e-67; MEOW:AGgn0010193 (36%) |species == Fruitfly; gene == Rep; score == 249; expect == 2.6e-66; MEOW:FBgn0026378 (34%) |species == Worm; gene == Y67D2.1a; score == 188; expect == 5.4e-48; MEOW:CEgn0034374 (30%) |species == rice; score == 153; expect == 5.7e-37; MEOW:gnl|TIGR|8350.m01542 (27%) |species == Weed; gene == At3g06540; score == 133; expect == 3.0e-31; MEOW:ATgn0016783 (25%) } # EOR GENR { RETE|ID 1 HUgn0001122 CHR 1 1 DID 1 LocusLink:1122 MAP 1 1q42-qter NAM 1 choroideremia-like (Rab escort protein 2) ORG 1 Homo sapiens SYM 1 CHML ID|HUgn0001122 DID|LocusLink:1122 ORG|Homo sapiens RSQ|REFSEQ:NM_001821 RPA|REFPROT:NP_001812 DBA|XM:NM_001821 |NA:X64728 |NA:none PAC|XP:NP_001812 SYM|CHML NAM|choroideremia-like (Rab escort protein 2) SYN|REP2 |REP-2 FNC|choroideremia-like Rab escort protein 2 |vision ; GO:0007601 |intracellular protein transport ; GO:0006886 REAB|The product of the CHML gene supports geranylgeranylation of most Rab proteins and |may substitute for REP-1 in tissues other than retina. CHML is localized close to |the gene for Usher syndrome type II. CHR|1 PRD|choroideremia-like |REP-2, Rab escort protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170129 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135222 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001821 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001821 DBL|UNIGENE:Hs.170129 |OMIM:118825 |SNP:1122 MAP|1q42-qter ENZ|RAB-protein geranylgeranyltransferase activity ; GO:0004663 |GTPase activator activity ; GO:0005096 |Rab escort protein activity ; GO:0005084 CEL|Rab-protein geranylgeranyltransferase complex ; GO:0005968 HG|species == Mouse; gene == Chml; score == 955; expect == 0.0; MEOW:MGgn0001353 (79%) |species == rat; score == 941; expect == 0.0; MEOW:ref|XP_222928.1| (77%) |species == Human; gene == CHM; score == 896; expect == 0.0; MEOW:HUgn0001121 (71%) |species == rat; score == 895; expect == 0.0; MEOW:ref|NP_058763.1| (69%) |species == Mouse; gene == Chm; score == 872; expect == 0.0; MEOW:MGgn0001352 (66%) |species == Mosquito; score == 245; expect == 4.9e-65; MEOW:AGgn0010193 (36%) |species == Fruitfly; gene == Rep; score == 227; expect == 1.0e-59; MEOW:FBgn0026378 (33%) |species == Worm; gene == Y67D2.1a; score == 188; expect == 5.4e-48; MEOW:CEgn0034374 (33%) |species == Worm; gene == Y67D2.1b; score == 154; expect == 5.4e-38; MEOW:CEgn0034375 (40%) |species == Weed; gene == At3g06540; score == 143; expect == 2.9e-34; MEOW:ATgn0016783 (26%) |species == rice; score == 142; expect == 1.3e-33; MEOW:gnl|TIGR|8350.m01542 (28%) } # EOR GENR { RETE|ID 1 HUgn0001123 CHR 1 2 DID 1 LocusLink:1123 MAP 1 2q31-q32.1 NAM 1 chimerin (chimaerin) 1 ORG 1 Homo sapiens SYM 1 CHN1 ID|HUgn0001123 DID|LocusLink:1123 ORG|Homo sapiens RSQ|REFSEQ:NM_001822 RPA|REFPROT:NP_001813 DBA|XM:NM_001822 |NA:AK055060 |NA:BC011393 |NA:X51408 |NA:Z22641 |NA:none PAC|XP:NP_001813 SYM|CHN1 NAM|chimerin (chimaerin) 1 SYN|CHN |ARHGAP2 |RHOGAP2 FNC|chimerin (chimaerin) 1 |intracellular signaling cascade ; GO:0007242 CHR|2 PRD|RhoGAP2 |n-chimerin |Chimerin 1 (GTPase-activating protein, rho, 2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380138 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1123[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127823 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001822 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001822 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380138 DBL|UNIGENE:Hs.380138 |OMIM:118423 |SNP:1123 MAP|2q31-q32.1 ENZ|SH3/SH2 adaptor protein activity ; GO:0005070 |GTPase activator activity ; GO:0005096 |diacylglycerol binding ; GO:0019992 HG|species == Human; gene == CHN2; score == 702; expect == 0.0; MEOW:HUgn0001124 (73%) |species == rat; score == 555; expect == 1e-158; MEOW:ref|XP_212818.2| (97%) |species == rat; score == 481; expect == 3e-136; MEOW:ref|XP_344715.1| (93%) |species == Mouse; gene == 1700026N20Rik; score == 459; expect == 8e-130; MEOW:MGgn0017670 (77%) |species == rat; score == 457; expect == 3e-129; MEOW:ref|XP_346701.1| (77%) |species == Mouse; gene == 0710001E19Rik; score == 412; expect == 1e-115; MEOW:MGgn0015508 (97%) |species == Mosquito; gene == LOC17663; score == 342; expect == 1.4e-94; MEOW:AGgn0017663 (43%) |species == Fruitfly; gene == RhoGAP5A; score == 308; expect == 3.1e-84; MEOW:FBgn0029778 (40%) |species == Worm; gene == BE0003N10.2; score == 257; expect == 7.5e-69; MEOW:CEgn0029169 (41%) } # EOR GENR { RETE|ID 1 HUgn0001124 CHR 1 7 DID 1 LocusLink:1124 MAP 1 7p15.3 NAM 1 chimerin (chimaerin) 2 ORG 1 Homo sapiens SYM 1 CHN2 ID|HUgn0001124 DID|LocusLink:1124 ORG|Homo sapiens RSQ|REFSEQ:NM_004067 RPA|REFPROT:NP_004058 DBA|XM:NM_004067 |XM:NM_004067 |NA:L29126 |NA:U07223 |NA:U28926 |NA:none PAC|XP:NP_004058 |XP:NP_004058 SYM|CHN2 NAM|chimerin (chimaerin) 2 SYN|ARHGAP3 |RHOGAP3 FNC|chimerin (chimaerin) 2 |intracellular signaling cascade ; GO:0007242 CHR|7 PRD|RhoGAP3 |beta chimerin |Chimerin 2 (GTPase-activating protein, rho, 3) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407520 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1124[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874910 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004067 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004067 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26474 DBL|UNIGENE:Hs.407520 |OMIM:602857 |SNP:1124 MAP|7p15.3 ENZ|SH3/SH2 adaptor protein activity ; GO:0005070 |GTPase activator activity ; GO:0005096 |diacylglycerol binding ; GO:0019992 HG|species == Human; gene == CHN1; score == 702; expect == 0.0; MEOW:HUgn0001123 (73%) |species == Mouse; gene == 1700026N20Rik; score == 570; expect == 3e-163; MEOW:MGgn0017670 (98%) |species == rat; score == 569; expect == 1e-162; MEOW:ref|XP_346701.1| (98%) |species == Mosquito; gene == LOC17663; score == 320; expect == 6.0e-88; MEOW:AGgn0017663 (39%) |species == Fruitfly; gene == RhoGAP5A; score == 305; expect == 2.1e-83; MEOW:FBgn0029778 (40%) |species == Worm; gene == BE0003N10.2; score == 260; expect == 1.2e-69; MEOW:CEgn0029169 (40%) } # EOR GENR { RETE|ID 1 HUgn0001125 CHR 1 5 DID 1 LocusLink:1125 MAP 1 5q35 NAM 1 chromate resistance; sulfate transport ORG 1 Homo sapiens SYM 1 CHR ID|HUgn0001125 DID|LocusLink:1125 ORG|Homo sapiens SYM|CHR NAM|chromate resistance; sulfate transport CHR|5 DBL|OMIM:118840 MAP|5q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119057 } # EOR GENR { RETE|ID 1 HUgn0001128 CHR 1 11 DID 1 LocusLink:1128 MAP 1 11q13 NAM 1 cholinergic receptor, muscarinic 1 ORG 1 Homo sapiens SYM 1 CHRM1 ID|HUgn0001128 DID|LocusLink:1128 ORG|Homo sapiens RSQ|REFSEQ:NM_000738 RPA|REFPROT:NP_000729 DBA|XM:NM_000738 |NA:X15263 |NA:X52068 |NA:Y00508 |NA:AF385587 |NA:AF498915 |NA:AJ006520 |NA:BC007740 |NA:BC022984 |NA:BT007166 |NA:none PAC|XP:NP_000729 SYM|CHRM1 NAM|cholinergic receptor, muscarinic 1 SYN|M1 |HM1 |MGC30125 FNC|cholinergic receptor, muscarinic 1 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |muscarinic acetyl choline receptor, phospholipase C activating pathway ; GO:0007207 |acetyl choline receptor signaling, muscarinic pathway ; GO:0007213 |positive regulation of cell proliferation ; GO:0008284 |synaptic transmission ; GO:0007268 |protein kinase C activation ; GO:0007205 |neurogenesis ; GO:0007399 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |protein modification ; GO:0006464 REAB|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled |receptors. The functional diversity of these receptors is defined by the binding |of acetylcholine to these receptors and includes cellular responses such as adenylate |cyclase inhibition, phosphoinositide degeneration, and postassium channel mediation. | Muscarinic receptors influence many effects of acetylcholine in the central and |peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in |mediation of vagally-induced bronchoconstriction and in the acid secretion of the |gastrointestinal tract. The gene encoding this receptor is localized to 11q13, |with MDU1 proximally and COX8 distally located. CHR|11 PRD|muscarinic acetylcholine receptor M1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247917 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1128[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125213 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000738 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000738 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=247917 DBL|UNIGENE:Hs.247917 |OMIM:118510 |SNP:1128 MAP|11q13 ENZ|ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Chrm1; score == 792; expect == 0.0; MEOW:MGgn0001359 (98%) |species == rat; score == 788; expect == 0.0; MEOW:ref|NP_542951.1| (98%) |species == Human; gene == CHRM3; score == 477; expect == 7e-135; MEOW:HUgn0001131 (50%) |species == chimp; score == 477; expect == 7e-135; MEOW:sp|Q9N2A4|ACM3_PANTR (50%) |species == Human; gene == CHRM5; score == 444; expect == 4e-125; MEOW:HUgn0001133 (51%) |species == Mosquito; score == 250; expect == 9.7e-67; MEOW:AGgn0020598 (59%) |species == Fruitfly; gene == mAcR-60C; score == 246; expect == 3.3e-65; MEOW:FBgn0000037 (55%) |species == Worm; gene == gar-2; score == 144; expect == 1.9e-34; MEOW:CEgn0030057 (36%) } # EOR GENR { RETE|ID 1 HUgn0001129 CHR 1 7 DID 1 LocusLink:1129 MAP 1 7q31-q35 NAM 1 cholinergic receptor, muscarinic 2 ORG 1 Homo sapiens SYM 1 CHRM2 ID|HUgn0001129 DID|LocusLink:1129 ORG|Homo sapiens RSQ|REFSEQ:NM_000739 RPA|REFPROT:NP_000730 DBA|XM:NM_000739 |XM:NM_000739 |NA:M16404 |NA:X15264 |NA:AF385588 |NA:AF498916 |NA:AL832585 |NA:AY034603 |NA:AY034604 |NA:AY034605 |NA:none PAC|XP:NP_000730 |XP:NP_000730 SYM|CHRM2 NAM|cholinergic receptor, muscarinic 2 SYN|HM2 FNC|cholinergic receptor, muscarinic 2 |muscarinic acetyl choline receptor, phospholipase C activating pathway ; GO:0007207 |regulation of heart rate ; GO:0008016 |pathogenesis ; GO:0009405 |muscarinic acetyl choline receptor, adenylate cyclase inhibiting pathway ; GO:0007197 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 REAB|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled |receptors. The functional diversity of these receptors is defined by the binding |of acetylcholine to these receptors and includes cellular responses such as adenylate |cyclase inhibition, phosphoinositide degeneration, and postassium channel mediation. | Muscarinic receptors influence many effects of acetylcholine in the central and |peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in |mediation of bradycardia and a decrease in cardiac contractility. CHR|7 PRD|muscarinic acetylcholine receptor M2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=368737 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1129[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125214 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000739 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000739 DBL|UNIGENE:Hs.368737 |OMIM:118493 |SNP:1129 MAP|7q31-q35 ENZ|ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 860; expect == 0.0; MEOW:sp|Q9N2A7|Q9N2A7 (100%) |species == rat; score == 831; expect == 0.0; MEOW:ref|NP_112278.1| (94%) |species == Mouse; gene == Chrm4; score == 495; expect == 3e-140; MEOW:MGgn0001362 (58%) |species == Human; gene == CHRM4; score == 491; expect == 3e-139; MEOW:HUgn0001132 (59%) |species == Human; gene == CHRM3; score == 406; expect == 2e-113; MEOW:HUgn0001131 (44%) |species == Mosquito; score == 248; expect == 3.7e-66; MEOW:AGgn0020598 (47%) |species == Fruitfly; gene == mAcR-60C; score == 240; expect == 3.1e-63; MEOW:FBgn0000037 (55%) |species == Mosquito; score == 201; expect == 1.2e-51; MEOW:AGgn0000343 (29%) |species == Worm; gene == M03F4.3; score == 176; expect == 3.1e-44; MEOW:CEgn0014057 (28%) |species == Worm; gene == gar-2; score == 141; expect == 4.7e-34; MEOW:CEgn0030057 (37%) } # EOR GENR { RETE|ID 1 HUgn0001130 CHR 1 1 DID 1 LocusLink:1130 MAP 1 1q42.1-q42.2 NAM 1 Chediak-Higashi syndrome 1 ORG 1 Homo sapiens SYM 1 CHS1 ID|HUgn0001130 DID|LocusLink:1130 ORG|Homo sapiens RSQ|REFSEQ:NM_000081 RPA|REFPROT:NP_000072 DBA|XM:NM_000081 |NA:BC033098 |NA:BX649113 |NA:L77889 |NA:U67615 |NA:U70064 |NA:U72192 |NA:U84744 |NA:none PAC|XP:NP_000072 SYM|CHS1 NAM|Chediak-Higashi syndrome 1 SYN|CHS |LYST FNC|lysosomal trafficking regulator |endosome to lysosome transport ; GO:0008333 |intracellular protein transport ; GO:0006886 |cellular defense response ; GO:0006968 |signal transduction ; GO:0007165 CHR|1 PRD|beige protein |lysosomal trafficking regulator URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130188 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1130[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4568202 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000081 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000081 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=130188 |http://www.retina-international.com/sci-news/chsmut.htm DBL|UNIGENE:Hs.130188 |OMIM:606897 |SNP:1130 |UWCM:4568202.html MAP|1q42.1-q42.2 PHP|Chediak-Higashi syndrome ENZ|protein transporter activity ; GO:0008565 CEL|endosome ; GO:0005768 |microtubule cytoskeleton ; GO:0015630 HG|species == Mouse; gene == Lyst; score == 6301; expect == 0.0; MEOW:MGgn0007302 (84%) |species == rat; score == 871; expect == 0.0; MEOW:ref|XP_346504.1| (75%) |species == Fruitfly; gene == CG11814; score == 453; expect == 8e-127; MEOW:FBgn0035296 (36%) |species == Human; gene == WDFY3; score == 413; expect == 8e-115; MEOW:HUgn0023001 (34%) |species == Human; gene == KIAA1607; score == 379; expect == 2e-104; MEOW:HUgn0057705 (29%) |species == rice; score == 360; expect == 1.1e-98; MEOW:gnl|TIGR|8360.m04771 (34%) |species == Mosquito; gene == LOC14929; score == 322; expect == 1.9e-87; MEOW:AGgn0014929 (41%) |species == Mosquito; score == 322; expect == 1.1e-87; MEOW:AGgn0029454 (33%) |species == Weed; gene == At1g03060; score == 315; expect == 3.1e-85; MEOW:ATgn0004367 (45%) |species == Weed; gene == At4g02660; score == 309; expect == 2.2e-83; MEOW:ATgn0018694 (45%) |species == Mosquito; gene == LOC20415; score == 296; expect == 7.7e-80; MEOW:AGgn0020415 (27%) |species == Weed; gene == At2g45540; score == 295; expect == 4.6e-79; MEOW:ATgn0009998 (30%) |species == rice; score == 290; expect == 2.5e-77; MEOW:gnl|TIGR|8352.m04347 (37%) |species == Yeast; gene == BPH1; score == 277; expect == 2.8e-74; MEOW:SGgn0000628 (38%) |species == Mosquito; score == 261; expect == 2.3e-70; MEOW:AGgn0026117 (52%) } # EOR GENR { RETE|ID 1 HUgn0001131 CHR 1 1 DID 1 LocusLink:1131 MAP 1 1q41-q44 NAM 1 cholinergic receptor, muscarinic 3 ORG 1 Homo sapiens SYM 1 CHRM3 ID|HUgn0001131 DID|LocusLink:1131 ORG|Homo sapiens RSQ|REFSEQ:NM_000740 RPA|REFPROT:NP_000731 DBA|XM:NM_000740 |NA:U29589 |NA:X15266 |NA:AF279779 |NA:AF385589 |NA:AF498917 |NA:AK056349 |NA:AK074575 |NA:none PAC|XP:NP_000731 SYM|CHRM3 NAM|cholinergic receptor, muscarinic 3 SYN|HM3 FNC|cholinergic receptor, muscarinic 3 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |protein modification ; GO:0006464 REAB|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled |receptors. The functional diversity of these receptors is defined by the binding |of acetylcholine to these receptors and includes cellular responses such as adenylate |cyclase inhibition, phosphoinositide degeneration, and postassium channel mediation. | Muscarinic receptors influence many effects of acetylcholine in the central and |peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth |muscle contraction and its stimulation causes secretion of glandular tissue. CHR|1 PRD|muscarinic acetylcholine receptor M3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7138 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1131[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125215 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000740 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000740 DBL|UNIGENE:Hs.7138 |OMIM:118494 |SNP:1131 MAP|1q41-q44 ENZ|ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |receptor activity ; GO:0004872 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 1115; expect == 0.0; MEOW:sp|Q9N2A4|ACM3_PANTR (99%) |species == Mouse; gene == Chrm3; score == 1028; expect == 0.0; MEOW:MGgn0001361 (91%) |species == rat; score == 1026; expect == 0.0; MEOW:ref|NP_036659.1| (91%) |species == Human; gene == CHRM5; score == 513; expect == 9e-146; MEOW:HUgn0001133 (53%) |species == Human; gene == CHRM1; score == 477; expect == 7e-135; MEOW:HUgn0001128 (50%) |species == Mosquito; score == 262; expect == 1.9e-70; MEOW:AGgn0020598 (54%) |species == Fruitfly; gene == mAcR-60C; score == 259; expect == 1.7e-69; MEOW:FBgn0000037 (60%) |species == Worm; gene == M03F4.3; score == 175; expect == 5.3e-44; MEOW:CEgn0014057 (27%) |species == Worm; gene == gar-2; score == 148; expect == 1.0e-35; MEOW:CEgn0030057 (35%) } # EOR GENR { RETE|ID 1 HUgn0001132 CHR 1 11 DID 1 LocusLink:1132 MAP 1 11p12-p11.2 NAM 1 cholinergic receptor, muscarinic 4 ORG 1 Homo sapiens SYM 1 CHRM4 ID|HUgn0001132 DID|LocusLink:1132 ORG|Homo sapiens RSQ|REFSEQ:NM_000741 RPA|REFPROT:NP_000732 DBA|XM:NM_000741 |NA:M16405 |NA:X15265 |NA:AF385590 |NA:AF498918 |NA:none PAC|XP:NP_000732 SYM|CHRM4 NAM|cholinergic receptor, muscarinic 4 SYN|HM4 FNC|cholinergic receptor, muscarinic 4 |acetyl choline receptor signaling, muscarinic pathway ; GO:0007213 |synaptic transmission ; GO:0007268 |cell proliferation ; GO:0008283 REAB|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled |receptors. The functional diversity of these receptors is defined by the binding |of acetylcholine to these receptors and includes cellular responses such as adenylate |cyclase inhibition, phosphoinositide degeneration, and postassium channel mediation. | Muscarinic receptors influence many effects of acetylcholine in the central and |peripheral nervous system. The clinical implications of this receptor are unknown; |however, mouse studies link its function to adenylyl cyclase inhibition. CHR|11 PRD|muscarinic acetylcholine receptor M4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=248100 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1132[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125216 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000741 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000741 DBL|UNIGENE:Hs.248100 |OMIM:118495 |SNP:1132 MAP|11p12-p11.2 ENZ|ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 796; expect == 0.0; MEOW:ref|XP_345404.1| (94%) |species == Mouse; gene == Chrm4; score == 791; expect == 0.0; MEOW:MGgn0001362 (93%) |species == Human; gene == CHRM2; score == 491; expect == 3e-139; MEOW:HUgn0001129 (59%) |species == chimp; score == 479; expect == 1e-135; MEOW:sp|Q9N2A7|Q9N2A7 (59%) |species == Fruitfly; gene == mAcR-60C; score == 232; expect == 4.9e-61; MEOW:FBgn0000037 (57%) |species == Mosquito; score == 227; expect == 1.9e-59; MEOW:AGgn0020598 (55%) |species == Mosquito; score == 189; expect == 2.8e-48; MEOW:AGgn0000343 (28%) |species == Worm; gene == gar-2; score == 135; expect == 8.8e-32; MEOW:CEgn0030057 (35%) } # EOR GENR { RETE|ID 1 HUgn0001133 CHR 1 15 DID 1 LocusLink:1133 MAP 1 15q26 NAM 1 cholinergic receptor, muscarinic 5 ORG 1 Homo sapiens SYM 1 CHRM5 ID|HUgn0001133 DID|LocusLink:1133 ORG|Homo sapiens RSQ|REFSEQ:NM_012125 RPA|REFPROT:NP_036257 DBA|XM:NM_012125 |NA:M80333 |NA:AB084282 |NA:AF026263 |NA:AF385591 |NA:AF498919 |NA:AK095198 |NA:BC041805 |NA:none PAC|XP:NP_036257 SYM|CHRM5 NAM|cholinergic receptor, muscarinic 5 SYN|HM5 |MGC41838 FNC|cholinergic receptor, muscarinic 5 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |acetyl choline receptor signaling, muscarinic pathway ; GO:0007213 |muscarinic acetyl choline receptor, adenylate cyclase inhibiting pathway ; GO:0007197 |synaptic transmission ; GO:0007268 |cell proliferation ; GO:0008283 REAB|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled |receptors. The functional diversity of these receptors is defined by the binding |of acetylcholine to these receptors and includes cellular responses such as adenylate |cyclase inhibition, phosphoinositide degeneration, and postassium channel mediation. | Muscarinic receptors influence many effects of acetylcholine in the central and |peripheral nervous system. The clinical implications of this receptor are unknown; |however, stimulation of this receptor is known to increase cyclic AMP levels. CHR|15 PRD|muscarinic acetylcholine receptor M5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247920 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1133[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125217 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012125 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012125 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=247920 DBL|UNIGENE:Hs.247920 |OMIM:118496 |SNP:1133 MAP|15q26 ENZ|ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 872; expect == 0.0; MEOW:ref|NP_059058.1| (88%) |species == Human; gene == CHRM3; score == 513; expect == 9e-146; MEOW:HUgn0001131 (53%) |species == chimp; score == 513; expect == 9e-146; MEOW:sp|Q9N2A4|ACM3_PANTR (53%) |species == Mouse; gene == Chrm3; score == 507; expect == 8e-144; MEOW:MGgn0001361 (52%) |species == Mouse; gene == Chrm1; score == 446; expect == 1e-125; MEOW:MGgn0001359 (52%) |species == Human; gene == CHRM1; score == 444; expect == 4e-125; MEOW:HUgn0001128 (51%) |species == Fruitfly; gene == mAcR-60C; score == 255; expect == 9.2e-68; MEOW:FBgn0000037 (56%) |species == Mosquito; score == 245; expect == 2.8e-65; MEOW:AGgn0020598 (64%) |species == Mosquito; score == 207; expect == 1.7e-53; MEOW:AGgn0000343 (31%) |species == Worm; gene == gar-2; score == 138; expect == 8.0e-33; MEOW:CEgn0030057 (34%) } # EOR GENR { RETE|ID 1 HUgn0001134 CHR 1 2 DID 1 LocusLink:1134 MAP 1 2q24-q32 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ORG 1 Homo sapiens SYM 1 CHRNA1 ID|HUgn0001134 DID|LocusLink:1134 ORG|Homo sapiens RSQ|REFSEQ:NM_000079 RPA|REFPROT:NP_000070 DBA|XM:NM_000079 |NA:X02502 |NA:BC006314 |NA:BC043196 |NA:S77094 |NA:Y00762 |NA:none PAC|XP:NP_000070 SYM|CHRNA1 NAM|cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) SYN|ACHRA |CHRNA FNC|cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |muscle contraction ; GO:0006936 |signal transduction ; GO:0007165 REAB|The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: |2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes |an alpha subunit that plays a role in acetlycholine binding/channel gating. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434419 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1134[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000079 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000079 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434419 |http://www.geneclinics.org/query?mim=100690 DBL|UNIGENE:Hs.434419 |OMIM:100690 |SNP:1134 |UWCM:120586.html MAP|2q24-q32 PHP|Myasthenic syndrome, slow-channel congenital ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == rat; score == 817; expect == 0.0; MEOW:ref|NP_077811.1| (93%) |species == Mouse; gene == Chrna1; score == 799; expect == 0.0; MEOW:MGgn0000067 (95%) |species == Zfish; gene == chrna1; score == 665; expect == 0.0; MEOW:ZFgn0000018 (80%) |species == Human; gene == CHRNA3; score == 413; expect == 1e-115; MEOW:HUgn0001136 (48%) |species == Human; gene == CHRNA6; score == 395; expect == 4e-110; MEOW:HUgn0008973 (45%) |species == Human; gene == CHRNA2; score == 374; expect == 6e-104; MEOW:HUgn0001135 (45%) |species == Mosquito; score == 371; expect == 6e-103; MEOW:AGgn0010919 (43%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 371; expect == 5e-103; MEOW:FBgn0004118 (42%) |species == Human; gene == CHRNA4; score == 369; expect == 4e-102; MEOW:HUgn0001137 (55%) |species == Human; gene == CHRNA5; score == 363; expect == 1e-100; MEOW:HUgn0001138 (46%) |species == Human; gene == CHRNB2; score == 352; expect == 3.6e-97; MEOW:HUgn0001141 (40%) |species == Human; gene == CHRNB3; score == 345; expect == 3.0e-95; MEOW:HUgn0001142 (44%) |species == Worm; gene == unc-63; score == 342; expect == 1.8e-94; MEOW:CEgn0002948 (42%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 340; expect == 1.3e-93; MEOW:FBgn0000039 (47%) |species == Mosquito; score == 337; expect == 7.8e-93; MEOW:AGgn0000239 (46%) |species == Human; gene == CHRNB4; score == 335; expect == 2.7e-92; MEOW:HUgn0001143 (40%) |species == Mosquito; gene == LOC10950; score == 332; expect == 1.1e-91; MEOW:AGgn0010950 (40%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 327; expect == 2.1e-89; MEOW:FBgn0015519 (48%) |species == Worm; gene == unc-38; score == 325; expect == 2.2e-89; MEOW:CEgn0002925 (40%) |species == Mosquito; score == 310; expect == 1.2e-84; MEOW:AGgn0018651 (34%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 310; expect == 4.8e-85; MEOW:FBgn0000036 (49%) |species == Mosquito; gene == LOC7985; score == 306; expect == 2.9e-83; MEOW:AGgn0007985 (50%) |species == Worm; gene == acr-12; score == 292; expect == 3.0e-79; MEOW:CEgn0000016 (42%) |species == Worm; gene == lev-1; score == 285; expect == 4.2e-77; MEOW:CEgn0001809 (37%) |species == Worm; gene == acr-8; score == 280; expect == 1.6e-75; MEOW:CEgn0000012 (32%) |species == Worm; gene == acr-16; score == 278; expect == 3.9e-75; MEOW:CEgn0000020 (41%) |species == Worm; gene == acr-21; score == 275; expect == 4.8e-74; MEOW:CEgn0000025 (42%) } # EOR GENR { RETE|ID 1 HUgn0001135 CHR 1 8 DID 1 LocusLink:1135 MAP 1 8p21 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) ORG 1 Homo sapiens SYM 1 CHRNA2 ID|HUgn0001135 DID|LocusLink:1135 ORG|Homo sapiens RSQ|REFSEQ:NM_000742 RPA|REFPROT:NP_000733 DBA|XM:NM_000742 |NA:U62431 |NA:Y16281 |NA:none PAC|XP:NP_000733 SYM|CHRNA2 NAM|cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) FNC|cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57718 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1135[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125218 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000742 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000742 DBL|UNIGENE:Hs.57718 |OMIM:118502 |SNP:1135 MAP|8p21 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Chrna2; score == 825; expect == 0.0; MEOW:MGgn0000068 (81%) |species == rat; score == 812; expect == 0.0; MEOW:ref|NP_596911.1| (81%) |species == Human; gene == CHRNA4; score == 553; expect == 9e-158; MEOW:HUgn0001137 (77%) |species == Human; gene == CHRNA3; score == 515; expect == 3e-146; MEOW:HUgn0001136 (57%) |species == Human; gene == CHRNA6; score == 488; expect == 3e-138; MEOW:HUgn0008973 (54%) |species == Human; gene == CHRNB3; score == 443; expect == 1e-124; MEOW:HUgn0001142 (51%) |species == Mosquito; score == 427; expect == 6e-120; MEOW:AGgn0000239 (45%) |species == Mosquito; score == 424; expect == 4e-119; MEOW:AGgn0010919 (47%) |species == Worm; gene == unc-63; score == 424; expect == 3e-119; MEOW:CEgn0002948 (48%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 422; expect == 2e-118; MEOW:FBgn0000036 (47%) |species == Zfish; gene == chrnb3; score == 421; expect == 3e-118; MEOW:ZFgn0007322 (50%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 416; expect == 2e-116; MEOW:FBgn0004118 (45%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 409; expect == 1e-114; MEOW:FBgn0000039 (45%) |species == Mosquito; score == 389; expect == 3e-108; MEOW:AGgn0018792 (46%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 387; expect == 6e-108; MEOW:FBgn0000038 (46%) |species == Mosquito; gene == LOC10950; score == 382; expect == 1e-106; MEOW:AGgn0010950 (59%) |species == Worm; gene == unc-38; score == 377; expect == 6e-105; MEOW:CEgn0002925 (44%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 368; expect == 2e-102; MEOW:FBgn0015519 (56%) |species == Zfish; gene == chrna1; score == 365; expect == 3e-101; MEOW:ZFgn0000018 (45%) |species == Mosquito; score == 352; expect == 2.1e-97; MEOW:AGgn0018651 (39%) |species == Worm; gene == acr-16; score == 343; expect == 1.3e-94; MEOW:CEgn0000020 (40%) |species == Mosquito; gene == LOC7985; score == 342; expect == 2.2e-94; MEOW:AGgn0007985 (53%) } # EOR GENR { RETE|ID 1 HUgn0001136 CHR 1 15 DID 1 LocusLink:1136 MAP 1 15q24 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 3 ORG 1 Homo sapiens SYM 1 CHRNA3 ID|HUgn0001136 DID|LocusLink:1136 ORG|Homo sapiens RSQ|REFSEQ:NM_000743 RPA|REFPROT:NP_000734 DBA|XM:NM_000743 |NA:AJ007783 |NA:AJ007784 |NA:AJ007785 |NA:AJ007786 |NA:AJ007787 |NA:AF385584 |NA:BC000513 |NA:BC001642 |NA:BC002996 |NA:BC006114 |NA:BT006646 |NA:BT006897 |NA:M37981 |NA:M86383 |NA:U62432 |NA:X53559 |NA:Y08418 PAC|XP:NP_000734 SYM|CHRNA3 NAM|cholinergic receptor, nicotinic, alpha polypeptide 3 FNC|cholinergic receptor, nicotinic, alpha polypeptide 3 |small molecule transport ; GO:0006832 |signal transduction ; GO:0007165 CHR|15 PRD|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89605 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1136[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125219 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000743 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000743 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89605 DBL|UNIGENE:Hs.89605 |OMIM:118503 |SNP:1136 MAP|15q24 PHP|Alpha 3 subunit of the neuronal nicotinic acetylcholine receptor ENZ|nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 |transporter activity ; GO:0005215 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 HG|species == rat; score == 855; expect == 0.0; MEOW:ref|NP_434692.1| (93%) |species == Mouse; gene == Chrna3; score == 850; expect == 0.0; MEOW:MGgn0000069 (93%) |species == Human; gene == CHRNA6; score == 631; expect == 0.0; MEOW:HUgn0008973 (67%) |species == Human; gene == CHRNA2; score == 515; expect == 3e-146; MEOW:HUgn0001135 (57%) |species == Mosquito; score == 426; expect == 2e-119; MEOW:AGgn0010919 (47%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 421; expect == 4e-118; MEOW:FBgn0004118 (44%) |species == Mosquito; score == 420; expect == 1e-117; MEOW:AGgn0000239 (42%) |species == Worm; gene == unc-63; score == 415; expect == 2e-116; MEOW:CEgn0002948 (45%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 409; expect == 2e-114; MEOW:FBgn0000039 (42%) |species == Zfish; gene == chrna1; score == 397; expect == 5e-112; MEOW:ZFgn0000018 (46%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 392; expect == 2e-109; MEOW:FBgn0000038 (44%) |species == Zfish; gene == chrnb3; score == 387; expect == 7e-108; MEOW:ZFgn0007322 (47%) |species == Worm; gene == unc-38; score == 383; expect == 1e-106; MEOW:CEgn0002925 (43%) |species == Mosquito; score == 382; expect == 3e-106; MEOW:AGgn0018792 (44%) |species == Mosquito; gene == LOC10950; score == 379; expect == 2e-105; MEOW:AGgn0010950 (44%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 378; expect == 6e-105; MEOW:FBgn0015519 (54%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 372; expect == 1e-103; MEOW:FBgn0000036 (53%) |species == Mosquito; gene == LOC7985; score == 354; expect == 5.4e-98; MEOW:AGgn0007985 (53%) |species == Mosquito; score == 343; expect == 1.7e-94; MEOW:AGgn0018651 (38%) |species == Worm; gene == acr-16; score == 342; expect == 2.2e-94; MEOW:CEgn0000020 (37%) } # EOR GENR { RETE|ID 1 HUgn0001137 CHR 1 20 DID 1 LocusLink:1137 MAP 1 20q13.2-q13.3 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 4 ORG 1 Homo sapiens SYM 1 CHRNA4 ID|HUgn0001137 DID|LocusLink:1137 ORG|Homo sapiens RSQ|REFSEQ:NM_000744 RPA|REFPROT:NP_000735 DBA|XM:NM_000744 |NA:L35901 |NA:U62433 |NA:X87629 |NA:X89741 |NA:X89742 |NA:X89743 |NA:X89744 |NA:X89745 |NA:X89746 |NA:Y08421 |NA:none PAC|XP:NP_000735 SYM|CHRNA4 NAM|cholinergic receptor, nicotinic, alpha polypeptide 4 SYN|BFNC |NACRA4 FNC|cholinergic receptor, nicotinic, alpha polypeptide 4 precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 REAB|The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated |ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, |these pentameric receptors respond by undergoing an extensive change in conformation |that affects all subunits and leads to opening of an ion-conducting channel across |the plasma membrane. The protein encoded by this gene is an integral membrane receptor |subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional |receptor. Mutations in this gene appear to account for a small proportion of the |cases of nocturnal frontal lobe epilepsy. CHR|20 PRD|neuronal nicotinic acetylcholine receptor alpha-4 subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10734 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1137[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128169 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000744 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000744 |http://www.geneclinics.org/query?mim=118504 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html DBL|UNIGENE:Hs.10734 |OMIM:118504 |SNP:1137 |UWCM:128169.html MAP|20q13.2-q13.3 PHP|Epilepsy, nocturnal frontal lobe, 1 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Chrna4; score == 987; expect == 0.0; MEOW:MGgn0000070 (84%) |species == rat; score == 969; expect == 0.0; MEOW:ref|NP_077330.1| (84%) |species == Human; gene == CHRNA2; score == 553; expect == 9e-158; MEOW:HUgn0001135 (77%) |species == Human; gene == CHRNA3; score == 454; expect == 5e-128; MEOW:HUgn0001136 (67%) |species == Human; gene == CHRNA6; score == 448; expect == 5e-126; MEOW:HUgn0008973 (67%) |species == Mosquito; score == 394; expect == 9e-110; MEOW:AGgn0000239 (56%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 392; expect == 3e-109; MEOW:FBgn0000039 (55%) |species == Zfish; gene == chrnb3; score == 387; expect == 4e-109; MEOW:ZFgn0007322 (61%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 378; expect == 4e-105; MEOW:FBgn0015519 (52%) |species == Mosquito; gene == LOC10950; score == 375; expect == 2e-104; MEOW:AGgn0010950 (57%) |species == Mosquito; score == 374; expect == 7e-104; MEOW:AGgn0010919 (54%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 373; expect == 1e-103; MEOW:FBgn0000036 (57%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 370; expect == 1e-102; MEOW:FBgn0004118 (51%) |species == Worm; gene == unc-63; score == 367; expect == 1e-101; MEOW:CEgn0002948 (53%) |species == Zfish; gene == chrna1; score == 361; expect == 4e-101; MEOW:ZFgn0000018 (57%) |species == Mosquito; gene == LOC7985; score == 353; expect == 1.2e-97; MEOW:AGgn0007985 (54%) |species == Mosquito; score == 348; expect == 3.8e-96; MEOW:AGgn0018792 (52%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 344; expect == 4.4e-95; MEOW:FBgn0000038 (53%) |species == Worm; gene == unc-38; score == 324; expect == 5.5e-89; MEOW:CEgn0002925 (49%) |species == Mosquito; score == 321; expect == 6.9e-88; MEOW:AGgn0018651 (45%) |species == Worm; gene == acr-12; score == 304; expect == 1.0e-82; MEOW:CEgn0000016 (45%) |species == Worm; gene == acr-16; score == 304; expect == 6.6e-83; MEOW:CEgn0000020 (45%) |species == Worm; gene == acr-3; score == 296; expect == 1.6e-80; MEOW:CEgn0000008 (46%) |species == Worm; gene == lev-1; score == 296; expect == 1.6e-80; MEOW:CEgn0001809 (46%) } # EOR GENR { RETE|ID 1 HUgn0001138 CHR 1 15 DID 1 LocusLink:1138 MAP 1 15q24 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 5 ORG 1 Homo sapiens SYM 1 CHRNA5 ID|HUgn0001138 DID|LocusLink:1138 ORG|Homo sapiens RSQ|REFSEQ:NM_000745 RPA|REFPROT:NP_000736 DBA|XM:NM_000745 |NA:AJ306481 |NA:AF385586 |NA:BC033639 |NA:BC050469 |NA:M83712 |NA:U62434 |NA:Y08419 |NA:none PAC|XP:NP_000736 SYM|CHRNA5 NAM|cholinergic receptor, nicotinic, alpha polypeptide 5 FNC|cholinergic receptor, nicotinic, alpha polypeptide 5 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 CHR|15 PRD|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1614 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1138[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000745 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000745 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1614 DBL|UNIGENE:Hs.1614 |OMIM:118505 |SNP:1138 MAP|15q24 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == rat; score == 781; expect == 0.0; MEOW:ref|NP_058774.1| (89%) |species == Human; gene == CHRNB3; score == 578; expect == 2e-165; MEOW:HUgn0001142 (67%) |species == Mouse; gene == Chrna5; score == 577; expect == 2e-165; MEOW:MGgn0000071 (89%) |species == Zfish; gene == chrnb3; score == 570; expect == 4e-164; MEOW:ZFgn0007322 (67%) |species == Mouse; gene == Chrnb3; score == 513; expect == 4e-146; MEOW:MGgn0000077 (62%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 379; expect == 2e-105; MEOW:FBgn0004118 (42%) |species == Mosquito; score == 374; expect == 5e-104; MEOW:AGgn0010919 (42%) |species == Worm; gene == unc-63; score == 362; expect == 2e-100; MEOW:CEgn0002948 (42%) |species == Mosquito; score == 349; expect == 2.6e-96; MEOW:AGgn0000239 (47%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 344; expect == 6.8e-95; MEOW:FBgn0000039 (48%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 332; expect == 1.6e-91; MEOW:FBgn0000036 (50%) |species == Mosquito; gene == LOC10950; score == 329; expect == 1.3e-90; MEOW:AGgn0010950 (51%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 329; expect == 1.0e-90; MEOW:FBgn0015519 (51%) |species == Worm; gene == unc-38; score == 318; expect == 2.1e-87; MEOW:CEgn0002925 (40%) |species == Mosquito; gene == LOC7985; score == 312; expect == 1.6e-85; MEOW:AGgn0007985 (50%) |species == Mosquito; score == 301; expect == 3.8e-82; MEOW:AGgn0018792 (48%) } # EOR GENR { RETE|ID 1 HUgn0001139 CHR 1 15 DID 1 LocusLink:1139 MAP 1 15q14 NAM 1 cholinergic receptor, nicotinic, alpha polypeptide 7 ORG 1 Homo sapiens SYM 1 CHRNA7 ID|HUgn0001139 DID|LocusLink:1139 ORG|Homo sapiens RSQ|REFSEQ:NM_000746 RPA|REFPROT:NP_000737 DBA|XM:NM_000746 |NA:AF029837 |NA:AF332758 |NA:AF385585 |NA:BC037571 |NA:L25827 |NA:N54079 |NA:U40583 |NA:U62436 |NA:X70297 |NA:Y08420 |NA:Z23141 |NA:none PAC|XP:NP_000737 SYM|CHRNA7 NAM|cholinergic receptor, nicotinic, alpha polypeptide 7 SYN|NACHRA7 FNC|cholinergic receptor, nicotinic, alpha polypeptide 7 precursor REAB|The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated |ion channels that mediate fast signal transmission at synapses. The nAChRs are thought |to be hetero-pentamers composed of homologous subunits. The proposed structure for |each subunit is a conserved N-terminal extracellular domain followed by three conserved |transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane |domain, and a short C-terminal extracellular region. The protein encoded by this |gene forms a homo-oligomeric channel, displays marked permeability to calcium ions |and is a major component of brain nicotinic receptors that are blocked by, and highly |sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes |an extensive change in conformation that affects all subunits and leads to opening |of an ion-conducting channel across the plasma membrane. This gene is located in |a region identified as a major susceptibility locus for juvenile myoclonic epilepsy |and a chromosomal location involved in the genetic transmission of schizophrenia. |An evolutionarily recent partial duplication event in this region results in a hybrid |containing sequence from this gene and a novel FAM7A gene. CHR|15 PRD|alpha7 nicotinic receptor subunit |a7 nicotinic acetylcholine receptor |nicotinic cholinergic receptor alpha 7 |alpha-7 nicotinic cholinergic receptor subunit |alpha 7 neuronal nicotinic acetylcholine receptor |neuronal nicotinic acetylcholine receptor alpha-7 subunit |nicotinic acetylcholine receptor alpha7 subunit precursor |neuronal acetylcholine receptor protein, alpha-7 chain precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511772 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1139[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138751 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000746 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000746 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511772 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA114 DBL|UNIGENE:Hs.511772 |OMIM:118511 |SNP:1139 MAP|15q14 PHP|Schizophrenia, neurophysiologic defect in HG|species == Mouse; gene == Chrna7; score == 921; expect == 0.0; MEOW:MGgn0000073 (93%) |species == rat; score == 921; expect == 0.0; MEOW:ref|NP_036964.1| (93%) |species == Human; gene == CHRFAM7A; score == 750; expect == 0.0; MEOW:HUgn0089832 (100%) |species == Mosquito; score == 461; expect == 6e-130; MEOW:AGgn0018651 (48%) |species == Worm; gene == acr-16; score == 411; expect == 7e-115; MEOW:CEgn0000020 (44%) |species == Worm; gene == acr-19; score == 376; expect == 2e-104; MEOW:CEgn0000023 (49%) |species == Worm; gene == acr-11; score == 360; expect == 1.2e-99; MEOW:CEgn0000015 (40%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 346; expect == 1.8e-95; MEOW:FBgn0000039 (37%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 312; expect == 5.4e-85; MEOW:FBgn0015519 (46%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 309; expect == 1.6e-84; MEOW:FBgn0000036 (36%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 297; expect == 1.4e-80; MEOW:FBgn0000038 (35%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 286; expect == 1.4e-77; MEOW:FBgn0004118 (35%) |species == Zfish; gene == chrna1; score == 280; expect == 5.3e-77; MEOW:ZFgn0000018 (36%) |species == Zfish; gene == chrnb3; score == 232; expect == 1.6e-62; MEOW:ZFgn0007322 (33%) } # EOR GENR { RETE|ID 1 HUgn0001140 CHR 1 17 DID 1 LocusLink:1140 MAP 1 17p13.1 NAM 1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ORG 1 Homo sapiens SYM 1 CHRNB1 ID|HUgn0001140 DID|LocusLink:1140 ORG|Homo sapiens RSQ|REFSEQ:NM_000747 RPA|REFPROT:NP_000738 DBA|XM:NM_000747 |NA:BC011371 |NA:BC023553 |NA:X14830 |NA:none PAC|XP:NP_000738 SYM|CHRNB1 NAM|cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) SYN|ACHRB |CHRNB FNC|nicotinic aceylcholine receptor beta subunit precursor |synaptic transmission, cholinergic ; GO:0007271 |cation transport ; GO:0006812 |synaptic transmission ; GO:0007268 |muscle contraction ; GO:0006936 |signal transduction ; GO:0007165 REAB|The acetylcholine receptor changes conformation upon acetylcholine binding leading |to the opening of an ion-conducting channel across the plasma membrane. Mutations |in the beta subunit of the acetylcholine receptor are associated with slow-channel |congenital myasthenic syndrome. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=330386 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1140[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120587 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000747 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000747 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=330386 |http://www.geneclinics.org/query?mim=100710 DBL|UNIGENE:Hs.330386 |OMIM:100710 |SNP:1140 |UWCM:120587.html MAP|17p13.1 PHP|Myasthenic syndrome, slow-channel congenital ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 |channel/pore class transporter activity ; GO:0015267 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 826; expect == 0.0; MEOW:ref|NP_036660.1| (89%) |species == Mouse; gene == Chrnb1; score == 815; expect == 0.0; MEOW:MGgn0000075 (90%) |species == Human; gene == CHRNB2; score == 343; expect == 1.3e-94; MEOW:HUgn0001141 (42%) |species == Human; gene == CHRNB4; score == 339; expect == 2.4e-93; MEOW:HUgn0001143 (40%) |species == Human; gene == CHRNG; score == 337; expect == 7.3e-93; MEOW:HUgn0001146 (41%) |species == Mosquito; score == 322; expect == 3.0e-88; MEOW:AGgn0018792 (38%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 322; expect == 2.5e-88; MEOW:FBgn0000038 (39%) |species == Human; gene == CHRND; score == 322; expect == 2.4e-88; MEOW:HUgn0001144 (39%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 318; expect == 3.5e-87; MEOW:FBgn0004118 (37%) |species == Human; gene == CHRNE; score == 293; expect == 1.1e-79; MEOW:HUgn0001145 (46%) |species == Human; gene == CHRNA2; score == 290; expect == 1.7e-78; MEOW:HUgn0001135 (39%) |species == Human; gene == CHRNB3; score == 289; expect == 2.0e-78; MEOW:HUgn0001142 (36%) |species == Zfish; gene == chrnb3; score == 289; expect == 2.0e-78; MEOW:ZFgn0007322 (35%) |species == Human; gene == CHRNA3; score == 287; expect == 1.1e-77; MEOW:HUgn0001136 (36%) |species == Mosquito; gene == LOC10950; score == 276; expect == 1.4e-74; MEOW:AGgn0010950 (35%) |species == Human; gene == CHRNA5; score == 276; expect == 1.4e-74; MEOW:HUgn0001138 (33%) |species == Worm; gene == lev-1; score == 268; expect == 4.1e-72; MEOW:CEgn0001809 (35%) |species == Worm; gene == unc-63; score == 268; expect == 4.7e-72; MEOW:CEgn0002948 (38%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 266; expect == 1.2e-71; MEOW:FBgn0000036 (36%) |species == Worm; gene == unc-29; score == 251; expect == 6.5e-67; MEOW:CEgn0002916 (34%) |species == Worm; gene == acr-3; score == 241; expect == 3.6e-64; MEOW:CEgn0000008 (33%) |species == Worm; gene == acr-14; score == 225; expect == 3.9e-59; MEOW:CEgn0000018 (31%) |species == Worm; gene == acr-16; score == 215; expect == 3.6e-56; MEOW:CEgn0000020 (32%) } # EOR GENR { RETE|ID 1 HUgn0001141 CHR 1 1 DID 1 LocusLink:1141 MAP 1 1q21.3 NAM 1 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ORG 1 Homo sapiens SYM 1 CHRNB2 ID|HUgn0001141 DID|LocusLink:1141 ORG|Homo sapiens RSQ|REFSEQ:NM_000748 RPA|REFPROT:NP_000739 DBA|XM:NM_000748 |NA:AF077186 |NA:AJ001935 |NA:AJ001936 |NA:AJ001937 |NA:AJ001938 |NA:AJ001939 |NA:U62437 |NA:X53179 |NA:Y08415 |NA:none PAC|XP:NP_000739 SYM|CHRNB2 NAM|cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) SYN|EFNL3 FNC|cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2306 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1141[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125221 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000748 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000748 |http://www.geneclinics.org/query?mim=118507 DBL|UNIGENE:Hs.2306 |OMIM:118507 |SNP:1141 MAP|1q21.3 PHP|Epilepsy, nocturnal frontal lobe, 3 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == rat; score == 899; expect == 0.0; MEOW:ref|NP_062170.1| (94%) |species == Mouse; gene == Chrnb2; score == 890; expect == 0.0; MEOW:MGgn0000076 (94%) |species == Human; gene == CHRNB4; score == 601; expect == 3e-172; MEOW:HUgn0001143 (66%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 409; expect == 2e-114; MEOW:FBgn0004118 (45%) |species == Mosquito; gene == LOC10950; score == 403; expect == 6e-113; MEOW:AGgn0010950 (43%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 402; expect == 1e-112; MEOW:FBgn0000036 (44%) |species == Mosquito; score == 399; expect == 2e-111; MEOW:AGgn0010919 (46%) |species == Worm; gene == unc-63; score == 391; expect == 5e-109; MEOW:CEgn0002948 (45%) |species == Mosquito; score == 386; expect == 1e-107; MEOW:AGgn0000239 (41%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 377; expect == 6e-105; MEOW:FBgn0000039 (41%) |species == Mosquito; score == 360; expect == 6e-100; MEOW:AGgn0018792 (42%) |species == Zfish; gene == chrnb3; score == 356; expect == 1e-99; MEOW:ZFgn0007322 (43%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 354; expect == 3.3e-98; MEOW:FBgn0015519 (53%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 351; expect == 3.6e-97; MEOW:FBgn0000038 (42%) |species == Worm; gene == unc-38; score == 348; expect == 3.6e-96; MEOW:CEgn0002925 (40%) |species == Zfish; gene == chrna1; score == 343; expect == 8.7e-96; MEOW:ZFgn0000018 (39%) |species == Worm; gene == unc-29; score == 342; expect == 2.6e-94; MEOW:CEgn0002916 (41%) |species == Worm; gene == acr-3; score == 333; expect == 1.2e-91; MEOW:CEgn0000008 (41%) |species == Mosquito; gene == LOC7985; score == 330; expect == 4.8e-91; MEOW:AGgn0007985 (50%) |species == Mosquito; score == 326; expect == 1.6e-89; MEOW:AGgn0018651 (38%) |species == Worm; gene == lev-1; score == 319; expect == 1.8e-87; MEOW:CEgn0001809 (40%) } # EOR GENR { RETE|ID 1 HUgn0001142 CHR 1 8 DID 1 LocusLink:1142 MAP 1 8p11.2 NAM 1 cholinergic receptor, nicotinic, beta polypeptide 3 ORG 1 Homo sapiens SYM 1 CHRNB3 ID|HUgn0001142 DID|LocusLink:1142 ORG|Homo sapiens RSQ|REFSEQ:NM_000749 RPA|REFPROT:NP_000740 DBA|XM:NM_000749 |NA:U62438 |NA:X67513 |NA:Y08417 |NA:none PAC|XP:NP_000740 SYM|CHRNB3 NAM|cholinergic receptor, nicotinic, beta polypeptide 3 FNC|cholinergic receptor, nicotinic, beta polypeptide 3 |synaptic transmission, cholinergic ; GO:0007271 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=96094 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1142[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125222 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000749 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000749 DBL|UNIGENE:Hs.96094 |OMIM:118508 |SNP:1142 MAP|8p11.2 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |channel/pore class transporter activity ; GO:0015267 |neurotransmitter receptor activity ; GO:0030594 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == rat; score == 775; expect == 0.0; MEOW:ref|NP_598281.1| (86%) |species == Mouse; gene == Chrnb3; score == 723; expect == 0.0; MEOW:MGgn0000077 (85%) |species == Zfish; gene == chrnb3; score == 667; expect == 0.0; MEOW:ZFgn0007322 (77%) |species == Human; gene == CHRNA5; score == 578; expect == 2e-165; MEOW:HUgn0001138 (67%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 391; expect == 6e-109; MEOW:FBgn0004118 (43%) |species == Mosquito; score == 384; expect == 6e-107; MEOW:AGgn0010919 (44%) |species == Worm; gene == unc-63; score == 369; expect == 2e-102; MEOW:CEgn0002948 (43%) |species == Mosquito; score == 355; expect == 4.7e-98; MEOW:AGgn0000239 (48%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 354; expect == 6.6e-98; MEOW:FBgn0000039 (48%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 350; expect == 4.2e-97; MEOW:FBgn0000036 (52%) |species == Mosquito; gene == LOC10950; score == 345; expect == 1.7e-95; MEOW:AGgn0010950 (52%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 329; expect == 1.3e-90; MEOW:FBgn0015519 (50%) |species == Mosquito; score == 322; expect == 3.0e-88; MEOW:AGgn0018792 (39%) |species == Worm; gene == unc-38; score == 321; expect == 4.2e-88; MEOW:CEgn0002925 (39%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 314; expect == 6.7e-86; MEOW:FBgn0000038 (39%) |species == Mosquito; score == 312; expect == 3.2e-85; MEOW:AGgn0018651 (40%) |species == Mosquito; gene == LOC7985; score == 309; expect == 1.3e-84; MEOW:AGgn0007985 (50%) |species == Worm; gene == acr-3; score == 303; expect == 1.1e-82; MEOW:CEgn0000008 (38%) } # EOR GENR { RETE|ID 1 HUgn0001143 CHR 1 15 DID 1 LocusLink:1143 MAP 1 15q24 NAM 1 cholinergic receptor, nicotinic, beta polypeptide 4 ORG 1 Homo sapiens SYM 1 CHRNB4 ID|HUgn0001143 DID|LocusLink:1143 ORG|Homo sapiens RSQ|REFSEQ:NM_000750 RPA|REFPROT:NP_000741 DBA|XM:NM_000750 |NA:U48861 |NA:U62439 |NA:X68275 |NA:Y08416 |NA:none PAC|XP:NP_000741 SYM|CHRNB4 NAM|cholinergic receptor, nicotinic, beta polypeptide 4 FNC|cholinergic receptor, nicotinic, beta polypeptide 4 |synaptic transmission, cholinergic ; GO:0007271 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 CHR|15 PRD|Cholinergic receptor, neuronal nicotinic, beta polypeptide-4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54397 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1143[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125223 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000750 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000750 DBL|UNIGENE:Hs.54397 |OMIM:118509 |SNP:1143 MAP|15q24 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 |channel/pore class transporter activity ; GO:0015267 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Chrnb4; score == 801; expect == 0.0; MEOW:MGgn0000078 (83%) |species == rat; score == 793; expect == 0.0; MEOW:ref|NP_434693.1| (84%) |species == Human; gene == CHRNB2; score == 601; expect == 3e-172; MEOW:HUgn0001141 (66%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 412; expect == 2e-115; MEOW:FBgn0004118 (42%) |species == Mosquito; score == 406; expect == 2e-113; MEOW:AGgn0010919 (44%) |species == Worm; gene == unc-63; score == 372; expect == 2e-103; MEOW:CEgn0002948 (42%) |species == Mosquito; score == 359; expect == 2.2e-99; MEOW:AGgn0018792 (41%) |species == Zfish; gene == chrnb3; score == 359; expect == 2.0e-99; MEOW:ZFgn0007322 (42%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 355; expect == 4.5e-98; MEOW:FBgn0000038 (42%) |species == Mosquito; score == 353; expect == 1.8e-97; MEOW:AGgn0000239 (48%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 350; expect == 9.5e-97; MEOW:FBgn0000039 (49%) |species == Worm; gene == unc-38; score == 348; expect == 2.7e-96; MEOW:CEgn0002925 (42%) |species == Mosquito; gene == LOC10950; score == 337; expect == 6.7e-93; MEOW:AGgn0010950 (52%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 336; expect == 1.2e-92; MEOW:FBgn0000036 (52%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 334; expect == 1.3e-91; MEOW:FBgn0015519 (50%) |species == Zfish; gene == chrna1; score == 330; expect == 7.5e-92; MEOW:ZFgn0000018 (40%) |species == Worm; gene == acr-3; score == 320; expect == 1.1e-87; MEOW:CEgn0000008 (37%) |species == Worm; gene == unc-29; score == 314; expect == 5.7e-86; MEOW:CEgn0002916 (39%) |species == Worm; gene == lev-1; score == 312; expect == 2.5e-85; MEOW:CEgn0001809 (37%) |species == Worm; gene == acr-16; score == 307; expect == 7.8e-84; MEOW:CEgn0000020 (35%) |species == Worm; gene == acr-2; score == 303; expect == 1.3e-82; MEOW:CEgn0000007 (38%) } # EOR GENR { RETE|ID 1 HUgn0001144 CHR 1 2 DID 1 LocusLink:1144 MAP 1 2q33-q34 NAM 1 cholinergic receptor, nicotinic, delta polypeptide ORG 1 Homo sapiens SYM 1 CHRND ID|HUgn0001144 DID|LocusLink:1144 ORG|Homo sapiens RSQ|REFSEQ:NM_000751 RPA|REFPROT:NP_000742 DBA|XM:NM_000751 |NA:X55019 |NA:none PAC|XP:NP_000742 SYM|CHRND NAM|cholinergic receptor, nicotinic, delta polypeptide SYN|ACHRD FNC|nicotinic acetylcholine receptor delta polypeptide precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |muscle contraction ; GO:0006936 |signal transduction ; GO:0007165 REAB|The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha |and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the |receptor undergoes an extensive conformation change that affects all subunits and |leads to opening of an ion-conducting channel across the plasma membrane. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=156289 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1144[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120588 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000751 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000751 |http://www.geneclinics.org/query?mim=100720 DBL|UNIGENE:Hs.156289 |OMIM:100720 |SNP:1144 |UWCM:120588.html MAP|2q33-q34 PHP|Myasthenic syndrome, slow-channel congenital ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 |integral to membrane ; GO:0016021 HG|species == rat; score == 864; expect == 0.0; MEOW:ref|NP_062171.1| (87%) |species == Mouse; gene == Chrnd; score == 844; expect == 0.0; MEOW:MGgn0000079 (87%) |species == Human; gene == CHRNG; score == 412; expect == 2e-115; MEOW:HUgn0001146 (46%) |species == Human; gene == CHRNE; score == 392; expect == 2e-109; MEOW:HUgn0001145 (46%) |species == Human; gene == CHRNB2; score == 362; expect == 3e-100; MEOW:HUgn0001141 (42%) |species == Human; gene == CHRNB4; score == 331; expect == 5.2e-91; MEOW:HUgn0001143 (39%) |species == Mosquito; score == 324; expect == 3.6e-89; MEOW:AGgn0018792 (38%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 322; expect == 1.9e-88; MEOW:FBgn0000038 (37%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 287; expect == 6.6e-78; MEOW:FBgn0004118 (37%) |species == Mosquito; score == 280; expect == 7.7e-76; MEOW:AGgn0010919 (37%) |species == Zfish; gene == chrna1; score == 280; expect == 9.3e-77; MEOW:ZFgn0000018 (35%) |species == Mosquito; score == 278; expect == 2.2e-75; MEOW:AGgn0000239 (44%) |species == Worm; gene == acr-3; score == 278; expect == 4.7e-75; MEOW:CEgn0000008 (33%) |species == Worm; gene == unc-29; score == 278; expect == 4.7e-75; MEOW:CEgn0002916 (36%) |species == Worm; gene == unc-63; score == 278; expect == 4.7e-75; MEOW:CEgn0002948 (34%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 276; expect == 1.5e-74; MEOW:FBgn0000039 (45%) |species == Worm; gene == unc-38; score == 275; expect == 2.3e-74; MEOW:CEgn0002925 (35%) |species == Mosquito; gene == LOC10950; score == 270; expect == 1.0e-72; MEOW:AGgn0010950 (42%) |species == Worm; gene == acr-2; score == 270; expect == 7.5e-73; MEOW:CEgn0000007 (35%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 270; expect == 6.4e-73; MEOW:FBgn0000036 (42%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 270; expect == 6.4e-73; MEOW:FBgn0015519 (43%) |species == Zfish; gene == chrnb3; score == 269; expect == 1.3e-73; MEOW:ZFgn0007322 (34%) |species == Worm; gene == lev-1; score == 266; expect == 1.4e-71; MEOW:CEgn0001809 (36%) |species == Mosquito; gene == LOC7985; score == 263; expect == 9.8e-71; MEOW:AGgn0007985 (39%) |species == Worm; gene == acr-16; score == 235; expect == 3.5e-62; MEOW:CEgn0000020 (32%) |species == Worm; gene == acr-12; score == 232; expect == 3.0e-61; MEOW:CEgn0000016 (31%) } # EOR GENR { RETE|ID 1 HUgn0001145 CHR 1 17 DID 1 LocusLink:1145 MAP 1 17p13-p12 NAM 1 cholinergic receptor, nicotinic, epsilon polypeptide ORG 1 Homo sapiens SYM 1 CHRNE ID|HUgn0001145 DID|LocusLink:1145 ORG|Homo sapiens RSQ|REFSEQ:NM_000080 RPA|REFPROT:NP_000071 DBA|XM:NM_000080 |NA:AI041890 |NA:X66403 |NA:none PAC|XP:NP_000071 SYM|CHRNE NAM|cholinergic receptor, nicotinic, epsilon polypeptide SYN|ACHRE FNC|nicotinic acetylcholine receptor epsilon polypeptide precursor |synaptic transmission, cholinergic ; GO:0007271 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |muscle contraction ; GO:0006936 |signal transduction ; GO:0007165 REAB|Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric |protein complexes composed of four subunits in the ratio of two alpha subunits to |one beta, one epsilon, and one delta subunit. The achetylcholine receptor changes |subunit composition shortly after birth when the epsilon subunit replaces the gamma |subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated |with congenital myasthenic syndrome. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=313227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1145[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132246 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000080 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000080 |http://www.geneclinics.org/query?mim=100725 DBL|UNIGENE:Hs.313227 |OMIM:100725 |SNP:1145 MAP|17p13-p12 PHP|Myasthenic syndrome, slow-channel congenital ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |cation transporter activity ; GO:0008324 |ion channel activity ; GO:0005216 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |acetylcholine receptor activity ; GO:0015464 CEL|nicotinic acetylcholine-gated receptor-channel complex ; GO:0005892 HG|species == Mouse; gene == Chrne; score == 825; expect == 0.0; MEOW:MGgn0000080 (89%) |species == rat; score == 785; expect == 0.0; MEOW:ref|NP_058890.1| (88%) |species == Human; gene == CHRNG; score == 440; expect == 8e-124; MEOW:HUgn0001146 (50%) |species == Human; gene == CHRND; score == 392; expect == 2e-109; MEOW:HUgn0001144 (46%) |species == Mosquito; gene == LOC10950; score == 263; expect == 7.1e-71; MEOW:AGgn0010950 (42%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 261; expect == 3.7e-70; MEOW:FBgn0000036 (41%) |species == Mosquito; score == 260; expect == 6.0e-70; MEOW:AGgn0018792 (41%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 260; expect == 8.2e-70; MEOW:FBgn0000038 (41%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 254; expect == 4.5e-68; MEOW:FBgn0000039 (40%) |species == Mosquito; score == 253; expect == 9.6e-68; MEOW:AGgn0000239 (40%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 253; expect == 1.3e-67; MEOW:FBgn0015519 (39%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 251; expect == 3.8e-67; MEOW:FBgn0004118 (34%) |species == Mosquito; score == 243; expect == 1.3e-64; MEOW:AGgn0010919 (40%) |species == Worm; gene == unc-63; score == 240; expect == 1.0e-63; MEOW:CEgn0002948 (38%) |species == Worm; gene == unc-38; score == 236; expect == 1.9e-62; MEOW:CEgn0002925 (37%) |species == Mosquito; gene == LOC7985; score == 233; expect == 1.3e-61; MEOW:AGgn0007985 (38%) |species == Zfish; gene == chrnb3; score == 232; expect == 1.6e-62; MEOW:ZFgn0007322 (37%) |species == Zfish; gene == chrna1; score == 228; expect == 3.0e-61; MEOW:ZFgn0000018 (36%) |species == Mosquito; score == 227; expect == 7.3e-60; MEOW:AGgn0018651 (34%) |species == Worm; gene == acr-2; score == 216; expect == 2.1e-56; MEOW:CEgn0000007 (36%) |species == Worm; gene == acr-3; score == 216; expect == 1.6e-56; MEOW:CEgn0000008 (35%) |species == Worm; gene == acr-16; score == 212; expect == 3.0e-55; MEOW:CEgn0000020 (35%) |species == Worm; gene == acr-9; score == 211; expect == 3.9e-55; MEOW:CEgn0000013 (35%) |species == Worm; gene == lev-1; score == 211; expect == 6.7e-55; MEOW:CEgn0001809 (35%) |species == Worm; gene == unc-29; score == 210; expect == 8.7e-55; MEOW:CEgn0002916 (33%) |species == Worm; gene == acr-12; score == 204; expect == 6.3e-53; MEOW:CEgn0000016 (33%) |species == Worm; gene == acr-19; score == 199; expect == 2.6e-51; MEOW:CEgn0000023 (32%) } # EOR GENR { RETE|ID 1 HUgn0001146 CHR 1 2 DID 1 LocusLink:1146 MAP 1 2q33-q34 NAM 1 cholinergic receptor, nicotinic, gamma polypeptide ORG 1 Homo sapiens SYM 1 CHRNG ID|HUgn0001146 DID|LocusLink:1146 ORG|Homo sapiens RSQ|REFSEQ:NM_005199 RPA|REFPROT:NP_005190 DBA|XM:NM_005199 |NA:X01715 |NA:X01716 |NA:X01717 |NA:X01718 |NA:X01719 |NA:X01720 |NA:X01721 |NA:X04759 |NA:AK125362 |NA:none PAC|XP:NP_005190 SYM|CHRNG NAM|cholinergic receptor, nicotinic, gamma polypeptide SYN|ACHRG FNC|cholinergic receptor, nicotinic, gamma polypeptide |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |muscle contraction ; GO:0006936 |signal transduction ; GO:0007165 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=248101 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1146[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120589 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005199 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005199 DBL|UNIGENE:Hs.248101 |OMIM:100730 |SNP:1146 MAP|2q33-q34 PHP|Myasthenia gravis, neonatal transient ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |muscarinic acetylcholine receptor activity ; GO:0004981 |nicotinic acetylcholine-activated cation-selective channel activity ; GO:0004889 |channel/pore class transporter activity ; GO:0015267 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 888; expect == 0.0; MEOW:ref|NP_062018.1| (88%) |species == Mouse; gene == Chrng; score == 881; expect == 0.0; MEOW:MGgn0000081 (88%) |species == Human; gene == CHRNE; score == 440; expect == 8e-124; MEOW:HUgn0001145 (50%) |species == Human; gene == CHRND; score == 412; expect == 2e-115; MEOW:HUgn0001144 (46%) |species == Mosquito; score == 260; expect == 1.1e-69; MEOW:AGgn0018792 (41%) |species == Fruitfly; gene == nAcR&bgr;-64B; score == 254; expect == 6.3e-68; MEOW:FBgn0000038 (40%) |species == Fruitfly; gene == nAcR&agr;-7E; score == 250; expect == 6.9e-67; MEOW:FBgn0015519 (39%) |species == Mosquito; score == 247; expect == 5.6e-66; MEOW:AGgn0000239 (41%) |species == Fruitfly; gene == nAcR&agr;-96Aa; score == 245; expect == 3.8e-65; MEOW:FBgn0000036 (41%) |species == Mosquito; gene == LOC10950; score == 243; expect == 8.1e-65; MEOW:AGgn0010950 (41%) |species == Worm; gene == lev-1; score == 243; expect == 9.9e-65; MEOW:CEgn0001809 (32%) |species == Fruitfly; gene == nAcR&agr;-96Ab; score == 243; expect == 1.1e-64; MEOW:FBgn0000039 (41%) |species == Fruitfly; gene == nAcR&bgr;-96A; score == 242; expect == 1.9e-64; MEOW:FBgn0004118 (40%) |species == Mosquito; score == 241; expect == 5.2e-64; MEOW:AGgn0010919 (40%) |species == Mosquito; gene == LOC7985; score == 237; expect == 5.8e-63; MEOW:AGgn0007985 (39%) |species == Worm; gene == unc-63; score == 237; expect == 7.1e-63; MEOW:CEgn0002948 (33%) |species == Worm; gene == unc-29; score == 234; expect == 7.9e-62; MEOW:CEgn0002916 (30%) |species == Zfish; gene == chrna1; score == 232; expect == 2.2e-62; MEOW:ZFgn0000018 (31%) |species == Worm; gene == acr-3; score == 228; expect == 3.3e-60; MEOW:CEgn0000008 (32%) |species == Worm; gene == unc-38; score == 228; expect == 3.3e-60; MEOW:CEgn0002925 (39%) |species == Mosquito; score == 226; expect == 1.0e-59; MEOW:AGgn0018651 (38%) |species == Worm; gene == acr-9; score == 224; expect == 8.2e-59; MEOW:CEgn0000013 (39%) |species == Zfish; gene == chrnb3; score == 224; expect == 6.1e-60; MEOW:ZFgn0007322 (31%) |species == Worm; gene == acr-2; score == 215; expect == 2.9e-56; MEOW:CEgn0000007 (32%) |species == Worm; gene == acr-12; score == 210; expect == 1.2e-54; MEOW:CEgn0000016 (33%) |species == Worm; gene == acr-16; score == 201; expect == 4.3e-52; MEOW:CEgn0000020 (36%) |species == Worm; gene == acr-11; score == 199; expect == 2.2e-51; MEOW:CEgn0000015 (35%) } # EOR GENR { RETE|ID 1 HUgn0001147 CHR 1 10 DID 1 LocusLink:1147 MAP 1 10q24-q25 NAM 1 conserved helix-loop-helix ubiquitous kinase ORG 1 Homo sapiens SYM 1 CHUK ID|HUgn0001147 DID|LocusLink:1147 ORG|Homo sapiens RSQ|REFSEQ:NM_001278 RPA|REFPROT:NP_001269 DBA|XM:NM_001278 |NA:AF009225 |NA:AF012890 |NA:AF080157 |NA:AL133012 |NA:U22512 |NA:none PAC|XP:NP_001269 SYM|CHUK NAM|conserved helix-loop-helix ubiquitous kinase SYN|IKK1 |IKKA |IKBKA |TCF16 |NFKBIKA |IKK-alpha FNC|conserved helix-loop-helix ubiquitous kinase |I-kappaB phosphorylation ; GO:0007252 |embryogenesis and morphogenesis ; GO:0007345 |immune response ; GO:0006955 CHR|10 PRD|IkBKA URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=198998 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1147[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:462411 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001278 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001278 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.198998 |OMIM:600664 |SNP:1147 MAP|10q24-q25 ENZ|IkappaB kinase activity ; GO:0008384 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Chuk; score == 1416; expect == 0.0; MEOW:MGgn0001366 (95%) |species == rat; score == 1334; expect == 0.0; MEOW:ref|XP_219857.2| (91%) |species == Human; gene == IKBKB; score == 728; expect == 0.0; MEOW:HUgn0003551 (51%) |species == Mosquito; gene == LOC16752; score == 235; expect == 2.6e-62; MEOW:AGgn0016752 (34%) |species == Fruitfly; gene == ird5; score == 174; expect == 1.6e-43; MEOW:FBgn0024222 (32%) } # EOR GENR { RETE|ID 1 HUgn0001149 CHR 1 18 DID 1 LocusLink:1149 MAP 1 18p11.21 NAM 1 cell death-inducing DFFA-like effector a ORG 1 Homo sapiens SYM 1 CIDEA ID|HUgn0001149 DID|LocusLink:1149 ORG|Homo sapiens RSQ|REFSEQ:NM_001279 |REFSEQ:NM_198289 RPA|REFPROT:NP_001270 |REFPROT:NP_938031 DBA|XM:NM_001279 |NA:AF041378 |NA:AK122762 |NA:BC031896 |NA:BQ718688 |NA:none PAC|XP:NP_001270 SYM|CIDEA NAM|cell death-inducing DFFA-like effector a SYN|CIDE-A FNC|cell death-inducing DFFA-like effector a isoform 1 |cell death-inducing DFFA-like effector a isoform 2 |DNA damage response, signal transduction resulting in induction of apoptosis ; GO:0008630 |DNA fragmentation ; GO:0006309 |apoptosis ; GO:0006915 REAB|This gene encodes the homolog of the mouse protein Cidea that has been shown to activate |apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor |DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher |metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures |when subjected to cold. These mice are also resistant to diet-induced obesity and |diabetes. This suggests that in mice this gene product plays a role in thermogenesis |and lipolysis. Two alternative transcripts encoding different isoforms have been |identified. CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249129 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1149[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862899 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198289 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198289 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=249129 DBL|UNIGENE:Hs.249129 |OMIM:604440 |SNP:1149 MAP|18p11.21 CEL|intracellular ; GO:0005622 ENZ|apoptosis regulator activity ; GO:0016329 HG|species == Mouse; gene == Cidea; score == 349; expect == 6.4e-97; MEOW:MGgn0001379 (83%) |species == rat; score == 319; expect == 6.4e-88; MEOW:ref|XP_214551.2| (81%) |species == Human; gene == CIDE-3; score == 181; expect == 3.1e-46; MEOW:HUgn0063924 (50%) } # EOR GENR { RETE|ID 1 HUgn0001150 CHR 1 X DID 1 LocusLink:1150 MAP 1 X NAM 1 combined immunodeficiency, X-linked ORG 1 Homo sapiens SYM 1 CIDX ID|HUgn0001150 DID|LocusLink:1150 ORG|Homo sapiens SYM|CIDX NAM|combined immunodeficiency, X-linked CHR|X MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127736 } # EOR GENR { RETE|ID 1 HUgn0001152 CHR 1 14 DID 1 LocusLink:1152 MAP 1 14q32 NAM 1 creatine kinase, brain ORG 1 Homo sapiens SYM 1 CKB ID|HUgn0001152 DID|LocusLink:1152 ORG|Homo sapiens RSQ|REFSEQ:NM_001823 RPA|REFPROT:NP_001814 DBA|XM:NM_001823 |NA:M21236 |NA:M21243 |NA:M22354 |NA:M22356 |NA:X15334 |NA:BC001190 |NA:BC004914 |NA:BC008323 |NA:BC010002 |NA:BC019259 |NA:BC019281 |NA:BG720434 |NA:BM684665 |NA:L47647 |NA:M16364 |NA:M16451 |NA:none PAC|XP:NP_001814 SYM|CKB NAM|creatine kinase, brain SYN|B-CK |CKBB FNC|brain creatine kinase REAB|The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. |The encoded protein reversibly catalyzes the transfer of phosphate between ATP and |various phosphogens such as creatine phosphate. It acts as a homodimer in brain |as well as in other tissues, and as a heterodimer with a similar muscle isozyme |in heart. The encoded protein is a member of the ATP:guanido phosphotransferase |protein family. A pseudogene of this gene has been characterized. CHR|14 PRD|creatine kinase-B |creatine kinase B-chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=173724 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1152[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120590 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001823 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001823 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=173724 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.173724 |OMIM:123280 |SNP:1152 ENZ|EC:2.7.3.2 |creatine kinase activity ; GO:0004111 |transferase activity, transferring phosphorus-containing groups ; GO:0016772 MAP|14q32 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Ckb; score == 723; expect == 0.0; MEOW:MGgn0001405 (96%) |species == rat; score == 721; expect == 0.0; MEOW:ref|NP_036661.2| (96%) |species == Zfish; gene == ckb; score == 670; expect == 0.0; MEOW:ZFgn0002419 (85%) |species == Human; gene == CKM; score == 630; expect == 0.0; MEOW:HUgn0001158 (80%) |species == Mouse; gene == Ckm; score == 623; expect == 3e-179; MEOW:MGgn0001411 (80%) |species == rat; score == 622; expect == 8e-179; MEOW:ref|NP_036662.1| (80%) |species == Zfish; gene == ckm; score == 612; expect == 1e-175; MEOW:ZFgn0000003 (77%) |species == Human; gene == CKMT2; score == 506; expect == 1e-143; MEOW:HUgn0001160 (66%) |species == Mosquito; gene == LOC23852; score == 275; expect == 2.8e-74; MEOW:AGgn0023852 (43%) |species == Worm; gene == ZC434.8; score == 254; expect == 5.1e-68; MEOW:CEgn0020669 (42%) |species == Fruitfly; gene == Argk; score == 245; expect == 2.3e-65; MEOW:FBgn0000116 (41%) |species == Worm; gene == F46H5.3a; score == 241; expect == 3.7e-64; MEOW:CEgn0032119 (42%) |species == Worm; gene == F46H5.3b; score == 241; expect == 3.4e-64; MEOW:CEgn0032120 (42%) |species == Worm; gene == F32B5.1; score == 240; expect == 1.3e-63; MEOW:CEgn0009802 (41%) |species == Worm; gene == W10C8.5; score == 239; expect == 2.0e-63; MEOW:CEgn0017853 (41%) |species == Worm; gene == F44G3.2; score == 231; expect == 4.9e-61; MEOW:CEgn0010872 (40%) |species == Fruitfly; gene == CG4546; score == 208; expect == 4.4e-54; MEOW:FBgn0038373 (37%) } # EOR GENR { RETE|ID 1 HUgn0001153 CHR 1 19 DID 1 LocusLink:1153 MAP 1 19p13.3 NAM 1 cold inducible RNA binding protein ORG 1 Homo sapiens SYM 1 CIRBP ID|HUgn0001153 DID|LocusLink:1153 ORG|Homo sapiens RSQ|REFSEQ:NM_001280 RPA|REFPROT:NP_001271 DBA|XM:NM_001280 |NA:AC004258 |NA:AF021336 |NA:AK094781 |NA:AK095781 |NA:AK128423 |NA:AL133636 |NA:BC000403 |NA:BC000901 |NA:D78134 |NA:none PAC|XP:NP_001271 SYM|CIRBP NAM|cold inducible RNA binding protein SYN|CIRP FNC|cold inducible RNA binding protein |response to cold ; GO:0009409 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|19 PRD|glycine-rich RNA binding protein |Cold-inducible RNA-binding protein |cold inducible RNA-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437351 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1153[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874934 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001280 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001280 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437351 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26519 DBL|UNIGENE:Hs.437351 |OMIM:602649 |SNP:1153 MAP|19p13.3 ENZ|RNA binding ; GO:0003723 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cirbp; score == 173; expect == 3.2e-44; MEOW:MGgn0001392 (98%) |species == rat; score == 173; expect == 4.8e-44; MEOW:ref|NP_112409.1| (98%) } # EOR GENR { RETE|ID 1 HUgn0001154 CHR 1 3 DID 1 LocusLink:1154 MAP 1 3p21.3 NAM 1 cytokine inducible SH2-containing protein ORG 1 Homo sapiens SYM 1 CISH ID|HUgn0001154 DID|LocusLink:1154 ORG|Homo sapiens RSQ|REFSEQ:NM_013324 |REFSEQ:NM_145071 RPA|REFPROT:NP_037456 |REFPROT:NP_659508 DBA|XM:NM_013324 |XM:NM_145071 |NA:Z77852 |NA:AF035947 |NA:AF132297 |NA:BC031590 |NA:BF511692 |NA:D83532 |NA:none PAC|XP:NP_037456 |XP:NP_659508 SYM|CISH NAM|cytokine inducible SH2-containing protein SYN|CIS |G18 |SOCS |CIS-1 FNC|cytokine-inducible SH2-containing protein isoform 1 |cytokine-inducible SH2-containing protein isoform 2 |intracellular signaling cascade ; GO:0007242 |regulation of cell growth ; GO:0001558 REAB|The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The |protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as |suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein |family. CIS family members are known to be cytokine-inducible negative regulators |of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF |and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein |has been shown to be involved in the inactivation of the erythropoietin receptor. |Two alternatively spliced transcript variants of this gene encoding distinct isoforms |have been described. CHR|3 PRD|suppressor of cytokine signaling |cytokine-inducible SH2-containing protein |cytokine-inducible inhibitor of signaling type 1B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=8257 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1154[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3925655 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013324 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013324 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=8257 DBL|UNIGENE:Hs.8257 |OMIM:602441 |SNP:1154 MAP|3p21.3 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Cish; score == 456; expect == 6e-129; MEOW:MGgn0001396 (91%) |species == rat; score == 403; expect == 4e-113; MEOW:ref|XP_343473.1| (91%) |species == Human; gene == SOCS2; score == 159; expect == 1.2e-39; MEOW:HUgn0008835 (41%) |species == Mouse; gene == Socs2; score == 147; expect == 3.6e-36; MEOW:MGgn0001397 (43%) } # EOR GENR { RETE|ID 1 HUgn0001155 CHR 1 19 DID 1 LocusLink:1155 MAP 1 19q13.11-q13.12 NAM 1 cytoskeleton-associated protein 1 ORG 1 Homo sapiens SYM 1 CKAP1 ID|HUgn0001155 DID|LocusLink:1155 ORG|Homo sapiens RSQ|REFSEQ:NM_001281 RPA|REFPROT:NP_001272 DBA|XM:NM_001281 |NA:AF013488 |NA:BC005969 |NA:BC052812 |NA:D49738 |NA:none PAC|XP:NP_001272 SYM|CKAP1 NAM|cytoskeleton-associated protein 1 SYN|CG22 |TBCB |CKAPI FNC|cytoskeleton-associated protein 1 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=31053 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1155[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:636527 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001281 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001281 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=31053 DBL|UNIGENE:Hs.31053 |OMIM:601303 |SNP:1155 MAP|19q13.11-q13.12 ENZ|chaperone activity ; GO:0003754 CEL|microtubule cytoskeleton ; GO:0015630 HG|species == Mouse; gene == Ckap1; score == 407; expect == 3e-114; MEOW:MGgn0020271 (88%) |species == rat; score == 403; expect == 5e-113; MEOW:ref|XP_214899.1| (88%) |species == Mosquito; score == 201; expect == 2.2e-52; MEOW:AGgn0019876 (48%) |species == Fruitfly; gene == CG11242; score == 187; expect == 4.4e-48; MEOW:FBgn0034451 (44%) |species == Worm; gene == F53F4.3; score == 181; expect == 2.9e-46; MEOW:CEgn0011640 (43%) |species == Weed; gene == At3g10220; score == 144; expect == 4.3e-35; MEOW:ATgn0013631 (37%) } # EOR GENR { RETE|ID 1 HUgn0001156 CHR 1 14 DID 1 LocusLink:1156 MAP 1 14q32 NAM 1 creatine kinase, ectopic expression ORG 1 Homo sapiens SYM 1 CKBE ID|HUgn0001156 DID|LocusLink:1156 ORG|Homo sapiens SYM|CKBE NAM|creatine kinase, ectopic expression CHR|14 DBL|OMIM:123270 MAP|14q32 PHP|Creatine kinase, brain type, ectopic expression of URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119058 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 } # EOR GENR { RETE|ID 1 HUgn0001157 CHR 1 16 DID 1 LocusLink:1157 MAP 1 16q12.1 NAM 1 creatine kinase B pseudogene 1 ORG 1 Homo sapiens SYM 1 CKBP1 ID|HUgn0001157 DID|LocusLink:1157 CLA|Pseudogene ORG|Homo sapiens SYM|CKBP1 NAM|creatine kinase B pseudogene 1 CHR|16 MAP|16q12.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136046 } # EOR GENR { RETE|ID 1 HUgn0001158 CHR 1 19 DID 1 LocusLink:1158 MAP 1 19q13.2-q13.3 NAM 1 creatine kinase, muscle ORG 1 Homo sapiens SYM 1 CKM ID|HUgn0001158 DID|LocusLink:1158 ORG|Homo sapiens RSQ|REFSEQ:NM_001824 RPA|REFPROT:NP_001815 DBA|XM:NM_001824 |NA:AC005781 |NA:M21487 |NA:M21494 |NA:AK129878 |NA:BC007462 |NA:BT006793 |NA:M14780 |NA:M16440 |NA:none PAC|XP:NP_001815 SYM|CKM NAM|creatine kinase, muscle SYN|CKMM |M-CK FNC|muscle creatine kinase REAB|The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis |and is an important serum marker for myocardial infarction. The encoded protein |reversibly catalyzes the transfer of phosphate between ATP and various phosphogens |such as creatine phosphate. It acts as a homodimer in striated muscle as well as |in other tissues, and as a heterodimer with a similar brain isozyme in heart. The |encoded protein is a member of the ATP:guanido phosphotransferase protein family. CHR|19 PRD|creatine kinase-M |creatine kinase M chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334347 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1158[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120591 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001824 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001824 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334347 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.334347 |OMIM:123310 |SNP:1158 ENZ|EC:2.7.3.2 |creatine kinase activity ; GO:0004111 |transferase activity, transferring phosphorus-containing groups ; GO:0016772 MAP|19q13.2-q13.3 HG|species == Mouse; gene == Ckm; score == 737; expect == 0.0; MEOW:MGgn0001411 (96%) |species == rat; score == 732; expect == 0.0; MEOW:ref|NP_036662.1| (96%) |species == Zfish; gene == ckm; score == 676; expect == 0.0; MEOW:ZFgn0000003 (88%) |species == Zfish; gene == ckb; score == 655; expect == 0.0; MEOW:ZFgn0002419 (83%) |species == Human; gene == CKB; score == 630; expect == 0.0; MEOW:HUgn0001152 (80%) |species == Mouse; gene == Ckb; score == 621; expect == 1e-178; MEOW:MGgn0001405 (79%) |species == rat; score == 620; expect == 5e-178; MEOW:ref|NP_036661.2| (79%) |species == Mosquito; gene == LOC23852; score == 272; expect == 2.4e-73; MEOW:AGgn0023852 (42%) |species == Worm; gene == ZC434.8; score == 252; expect == 2.0e-67; MEOW:CEgn0020669 (41%) |species == Worm; gene == F46H5.3a; score == 248; expect == 3.9e-66; MEOW:CEgn0032119 (41%) |species == Worm; gene == F46H5.3b; score == 248; expect == 3.7e-66; MEOW:CEgn0032120 (41%) |species == Fruitfly; gene == Argk; score == 244; expect == 6.8e-65; MEOW:FBgn0000116 (40%) |species == Worm; gene == F32B5.1; score == 236; expect == 1.4e-62; MEOW:CEgn0009802 (40%) |species == Worm; gene == W10C8.5; score == 236; expect == 2.2e-62; MEOW:CEgn0017853 (40%) |species == Worm; gene == F44G3.2; score == 225; expect == 3.5e-59; MEOW:CEgn0010872 (39%) } # EOR GENR { RETE|ID 1 HUgn0001159 CHR 1 15 DID 1 LocusLink:1159 MAP 1 15q15 NAM 1 creatine kinase, mitochondrial 1 (ubiquitous) ORG 1 Homo sapiens SYM 1 CKMT1 ID|HUgn0001159 DID|LocusLink:1159 ORG|Homo sapiens RSQ|REFSEQ:NM_020990 RPA|REFPROT:NP_066270 DBA|XM:NM_020990 |NA:J04469 |NA:AK094322 |NA:BC001926 |NA:BC006467 |NA:BT006628 |NA:none PAC|XP:NP_066270 SYM|CKMT1 NAM|creatine kinase, mitochondrial 1 (ubiquitous) SYN|CKMT |UMTCK FNC|ubiquitous mitochondrial creatine kinase precursor REAB|Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy |phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the |creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and |ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs |in two different oligomeric forms: dimers and octamers, in contrast to the exclusively |dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis |have shown overexpression of ubiquitous mitochondrial creatine kinase, this may |be related to high energy turnover and failure to eliminate cancer cells via apoptosis. |Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons |of sarcomeric mitochondrial creatine kinase. CHR|15 PRD|Creatine kinase, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153998 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=425633 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1159[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119780 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020990 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020990 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=153998 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=425633 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1159 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.153998 |UNIGENE:Hs.425633 |OMIM:123290 |SNP:1159 ENZ|EC:2.7.3.2 |creatine kinase activity ; GO:0004111 |transferase activity, transferring phosphorus-containing groups ; GO:0016772 MAP|15q15 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Ckmt1; score == 751; expect == 0.0; MEOW:MGgn0001412 (96%) |species == Human; gene == CKMT2; score == 685; expect == 0.0; MEOW:HUgn0001160 (79%) |species == rat; score == 675; expect == 0.0; MEOW:ref|XP_342506.1| (87%) |species == rat; score == 675; expect == 0.0; MEOW:ref|XP_347217.1| (87%) |species == Zfish; gene == ckb; score == 495; expect == 2e-140; MEOW:ZFgn0002419 (70%) |species == Mouse; gene == Ckb; score == 485; expect == 1e-137; MEOW:MGgn0001405 (69%) |species == Zfish; gene == ckm; score == 477; expect == 5e-135; MEOW:ZFgn0000003 (67%) |species == Mouse; gene == Ckm; score == 474; expect == 2e-134; MEOW:MGgn0001411 (68%) |species == Mosquito; gene == LOC23852; score == 263; expect == 1.1e-70; MEOW:AGgn0023852 (42%) |species == Worm; gene == F46H5.3a; score == 241; expect == 4.8e-64; MEOW:CEgn0032119 (42%) |species == Worm; gene == F46H5.3b; score == 241; expect == 4.5e-64; MEOW:CEgn0032120 (42%) |species == Worm; gene == F32B5.1; score == 234; expect == 6.9e-62; MEOW:CEgn0009802 (40%) |species == Worm; gene == W10C8.5; score == 234; expect == 8.2e-62; MEOW:CEgn0017853 (40%) |species == Worm; gene == ZC434.8; score == 229; expect == 1.4e-60; MEOW:CEgn0020669 (38%) |species == Fruitfly; gene == Argk; score == 228; expect == 5.1e-60; MEOW:FBgn0000116 (41%) |species == Worm; gene == F44G3.2; score == 224; expect == 7.8e-59; MEOW:CEgn0010872 (40%) |species == Fruitfly; gene == CG4546; score == 199; expect == 3.5e-51; MEOW:FBgn0038373 (37%) } # EOR GENR { RETE|ID 1 HUgn0001160 CHR 1 5 DID 1 LocusLink:1160 MAP 1 5q13.3 NAM 1 creatine kinase, mitochondrial 2 (sarcomeric) ORG 1 Homo sapiens SYM 1 CKMT2 ID|HUgn0001160 DID|LocusLink:1160 ORG|Homo sapiens RSQ|REFSEQ:NM_001825 RPA|REFPROT:NP_001816 DBA|XM:NM_001825 |NA:AK122769 |NA:BC029140 |NA:J05401 |NA:none PAC|XP:NP_001816 SYM|CKMT2 NAM|creatine kinase, mitochondrial 2 (sarcomeric) SYN|SMTCK FNC|sarcomeric mitochondrial creatine kinase precursor |energy pathways ; GO:0006091 |muscle contraction ; GO:0006936 REAB|Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy |phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the |creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and |ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs |in two different oligomeric forms: dimers and octamers, in contrast to the exclusively |dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine |kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine |kinase. This gene contains sequences homologous to several motifs that are shared |among some nuclear genes encoding mitochondrial proteins and thus may be essential |for the coordinated activation of these genes during mitochondrial biogenesis. CHR|5 PRD|basic-type mitochondrial creatine kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80691 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1160[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134408 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001825 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001825 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80691 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1160 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.80691 |OMIM:123295 |SNP:1160 ENZ|EC:2.7.3.2 |creatine kinase activity ; GO:0004111 |transferase activity, transferring phosphorus-containing groups ; GO:0016772 MAP|5q13.3 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Ckmt1; score == 692; expect == 0.0; MEOW:MGgn0001412 (80%) |species == Human; gene == CKMT1; score == 685; expect == 0.0; MEOW:HUgn0001159 (79%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|XP_342506.1| (72%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|XP_347217.1| (72%) |species == rat; score == 506; expect == 9e-144; MEOW:ref|NP_036661.2| (66%) |species == Zfish; gene == ckb; score == 505; expect == 1e-144; MEOW:ZFgn0002419 (67%) |species == rat; score == 501; expect == 2e-142; MEOW:ref|NP_036662.1| (67%) |species == Zfish; gene == ckm; score == 480; expect == 3e-137; MEOW:ZFgn0000003 (65%) |species == Mosquito; gene == LOC23852; score == 256; expect == 1.2e-68; MEOW:AGgn0023852 (41%) |species == Worm; gene == F46H5.3a; score == 241; expect == 3.8e-64; MEOW:CEgn0032119 (40%) |species == Worm; gene == F46H5.3b; score == 241; expect == 3.8e-64; MEOW:CEgn0032120 (40%) |species == Worm; gene == F32B5.1; score == 228; expect == 4.3e-60; MEOW:CEgn0009802 (36%) |species == Worm; gene == W10C8.5; score == 228; expect == 4.3e-60; MEOW:CEgn0017853 (36%) |species == Worm; gene == ZC434.8; score == 220; expect == 6.9e-58; MEOW:CEgn0020669 (37%) |species == Worm; gene == F44G3.2; score == 219; expect == 1.5e-57; MEOW:CEgn0010872 (38%) |species == Fruitfly; gene == Argk; score == 218; expect == 2.9e-57; MEOW:FBgn0000116 (38%) |species == Fruitfly; gene == CG4546; score == 209; expect == 1.8e-54; MEOW:FBgn0038373 (36%) } # EOR GENR { RETE|ID 1 HUgn0001161 CHR 1 5 DID 1 LocusLink:1161 MAP 1 5q12.1 NAM 1 Cockayne syndrome 1 (classical) ORG 1 Homo sapiens SYM 1 CKN1 ID|HUgn0001161 DID|LocusLink:1161 ORG|Homo sapiens RSQ|REFSEQ:NM_000082 RPA|REFPROT:NP_000073 DBA|XM:NM_000082 |NA:AK056931 |NA:BC009793 |NA:U28413 PAC|XP:NP_000073 SYM|CKN1 NAM|Cockayne syndrome 1 (classical) SYN|CSA |ERCC8 FNC|Cockayne syndrome 1 protein |DNA repair ; GO:0006281 REAB|Mutations in CKN1 have been identified in patients with classical Cockayne syndrome, |type 1. This syndrome is characterized by cells which are sensitive to ultraviolet |radiation and are defective in transcription-coupled repair. The CKN1 product interacts |with CSB protein and with p44 protein suggesting CKN1 is involved in transcription. | Introducing CKN1 to fibroblasts from Cockayne syndrome patients restored the UV-induced |ubiquitination of the large subunit of RNA polymerase II. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32967 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1161[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000082 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000082 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=32967 |http://www.geneclinics.org/query?mim=216400 |http://www.ncbi.nlm.nih.gov/disease/Cockayne.html DBL|UNIGENE:Hs.32967 |OMIM:216400 |SNP:1161 |UWCM:128586.html MAP|5q12.1 PHP|Cockayne syndrome-1 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 HG|species == Mouse; gene == Ckn1; score == 751; expect == 0.0; MEOW:MGgn0020364 (89%) |species == rat; score == 743; expect == 0.0; MEOW:ref|XP_226789.2| (86%) |species == Weed; gene == At1g27840; score == 241; expect == 3.9e-64; MEOW:ATgn0002490 (33%) |species == rice; score == 203; expect == 4.4e-52; MEOW:gnl|TIGR|8351.m01896 (31%) } # EOR GENR { RETE|ID 1 HUgn0001163 CHR 1 1 DID 1 LocusLink:1163 MAP 1 1q21.2 NAM 1 CDC28 protein kinase regulatory subunit 1B ORG 1 Homo sapiens SYM 1 CKS1B ID|HUgn0001163 DID|LocusLink:1163 ORG|Homo sapiens RSQ|REFSEQ:NM_001826 RPA|REFPROT:NP_001817 DBA|XM:NM_001826 |NA:AF279897 |NA:BC007751 |NA:BC015629 |NA:X54941 |NA:none PAC|XP:NP_001817 SYM|CKS1B NAM|CDC28 protein kinase regulatory subunit 1B SYN|CKS1 |ckshs1 FNC|CDC28 protein kinase 1B |regulation of CDK activity ; GO:0000079 |cytokinesis ; GO:0000910 REAB|CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and |is essential for their biological function. The CKS1B mRNA is found to be expressed |in different patterns through the cell cycle in HeLa cells, which reflects a specialized |role for the encoded protein. CHR|1 PRD|PNAS-143 |CDC28 protein kinase 1 |CDC28 protein kinase 1B |CDC2-associated protein CKS1 |cell division control protein CKS1 |NB4 apoptosis/differentiation related protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374378 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1163[loc]&TAXID=9606 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001826 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001826 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374378 DBL|UNIGENE:Hs.374378 |OMIM:116900 |SNP:1163 MAP|1q21.2 ENZ|cyclin-dependent protein kinase activity ; GO:0004693 HG|species == Mouse; gene == Cks1; score == 146; expect == 1.3e-36; MEOW:MGgn0014491 (100%) |species == Mouse; gene == Cks2; score == 145; expect == 3.5e-36; MEOW:MGgn0016172 (81%) |species == Human; gene == CKS2; score == 144; expect == 5.9e-36; MEOW:HUgn0001164 (81%) |species == Human; gene == bA192N10.2; score == 144; expect == 5.9e-36; MEOW:HUgn0246714 (98%) } # EOR GENR { RETE|ID 1 HUgn0001164 CHR 1 9 DID 1 LocusLink:1164 MAP 1 9q22 NAM 1 CDC28 protein kinase regulatory subunit 2 ORG 1 Homo sapiens SYM 1 CKS2 ID|HUgn0001164 DID|LocusLink:1164 ORG|Homo sapiens RSQ|REFSEQ:NM_001827 RPA|REFPROT:NP_001818 DBA|XM:NM_001827 |NA:BC006458 |NA:BC020345 |NA:X54942 |NA:none PAC|XP:NP_001818 SYM|CKS2 NAM|CDC28 protein kinase regulatory subunit 2 SYN|CKSHS2 FNC|CDC28 protein kinase 2 |regulation of CDK activity ; GO:0000079 |cell cycle ; GO:0007049 |cytokinesis ; GO:0000910 REAB|CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is |essential for their biological function. The CKS2 mRNA is found to be expressed |in different patterns through the cell cycle in HeLa cells, which reflects specialized |role for the encoded protein. CHR|9 PRD|CDC28 protein kinase 2 |CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83758 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1164[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:730868 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001827 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001827 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83758 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26536 DBL|UNIGENE:Hs.83758 |OMIM:116901 |SNP:1164 MAP|9q22 ENZ|cyclin-dependent protein kinase activity ; GO:0004693 HG|species == Mouse; gene == Cks2; score == 172; expect == 2.3e-44; MEOW:MGgn0016172 (98%) |species == Human; gene == CKS1B; score == 144; expect == 5.9e-36; MEOW:HUgn0001163 (81%) |species == Mouse; gene == Cks1; score == 144; expect == 3.9e-36; MEOW:MGgn0014491 (81%) |species == Human; gene == bA192N10.2; score == 143; expect == 1.7e-35; MEOW:HUgn0246714 (79%) |species == Mosquito; gene == LOC18659; score == 130; expect == 6.5e-32; MEOW:AGgn0018659 (72%) |species == Fruitfly; gene == Cks; score == 127; expect == 5.7e-31; MEOW:FBgn0010314 (78%) } # EOR GENR { RETE|ID 1 HUgn0001165 CHR 1 9 DID 1 LocusLink:1165 MAP 1 9q34-qter NAM 1 cerebellar ataxia 1 (autosomal recessive) ORG 1 Homo sapiens SYM 1 CLA1 ID|HUgn0001165 DID|LocusLink:1165 ORG|Homo sapiens SYM|CLA1 NAM|cerebellar ataxia 1 (autosomal recessive) CHR|9 PRD|Cerebellar ataxia-1 DBL|OMIM:213200 MAP|9q34-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119781 |http://www.geneclinics.org/query?mim=213200 } # EOR GENR { RETE|ID 1 HUgn0001166 CHR 1 X DID 1 LocusLink:1166 NAM 1 cerebellar ataxia 2 (X-linked) ORG 1 Homo sapiens SYM 1 CLA2 ID|HUgn0001166 DID|LocusLink:1166 ORG|Homo sapiens SYM|CLA2 NAM|cerebellar ataxia 2 (X-linked) SYN|OPCA CHR|X PHP|Cerebellar ataxia-2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119782 } # EOR GENR { RETE|ID 1 HUgn0001167 DID 1 LocusLink:1167 NAM 1 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) ORG 1 Homo sapiens SYM 1 CLA3 ID|HUgn0001167 DID|LocusLink:1167 ORG|Homo sapiens SYM|CLA3 NAM|cerebellar ataxia 3 (cerebellar parenchyma disorder 1) SYN|CPD1 PRD|cerebellar parenchyma disorder 1 |cerebellar ataxia, infantile nonprogressive, autosomal recessive DBL|OMIM:608029 PHP|Cerebellar ataxia 3, infantile nonprogressive URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128453 } # EOR GENR { RETE|ID 1 HUgn0001173 CHR 1 3 DID 1 LocusLink:1173 MAP 1 3q28 NAM 1 adaptor-related protein complex 2, mu 1 subunit ORG 1 Homo sapiens SYM 1 AP2M1 ID|HUgn0001173 DID|LocusLink:1173 ORG|Homo sapiens RSQ|REFSEQ:NM_004068 RPA|REFPROT:NP_004059 DBA|XM:NM_004068 |NA:AK057883 |NA:BC004996 |NA:BC013796 |NA:BC014030 |NA:BT007308 |NA:D63475 |NA:U36188 |NA:none PAC|XP:NP_004059 SYM|AP2M1 NAM|adaptor-related protein complex 2, mu 1 subunit SYN|AP50 |CLAPM1 FNC|adaptor-related protein complex 2, mu 1 subunit |nonselective vesicle transport ; GO:0006899 |intracellular protein transport ; GO:0006886 REAB|This gene encodes a subunit of the heterotetrameric coat assembly protein complex |2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded |protein is required for the activity of a vacuolar ATPase, which is responsible |for proton pumping occurring in the acidification of endosomes and lysosomes. The |encoded protein may also play an important role in regulating the intracellular |trafficking and function of CTLA-4 protein. CHR|3 PRD|AP-2 mu 2 chain |HA2 50 kDA subunit |clathrin coat adaptor protein AP50 |clathrin adaptor complex AP2, mu subunit |plasma membrane adaptor AP-2 50kDA protein |clathrin assembly protein complex 2 medium chain |clathrin-associated/assembly/adaptor protein, medium 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433892 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1173[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220258 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004068 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004068 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433892 DBL|UNIGENE:Hs.433892 |OMIM:601024 |SNP:1173 MAP|3q28 ENZ|transporter activity ; GO:0005215 CEL|coated pit ; GO:0005905 |secretory vesicle ; GO:0005803 |clathrin vesicle coat ; GO:0030125 HG|species == Mouse; gene == Ap2m1; score == 867; expect == 0.0; MEOW:MGgn0000423 (100%) |species == rat; score == 867; expect == 0.0; MEOW:ref|NP_446289.1| (100%) |species == Mosquito; score == 771; expect == 0.0; MEOW:AGgn0011125 (87%) |species == Fruitfly; gene == AP-50; score == 770; expect == 0.0; MEOW:FBgn0024832 (86%) |species == Worm; gene == dpy-23; score == 733; expect == 0.0; MEOW:CEgn0000430 (80%) |species == rice; score == 431; expect == 1e-120; MEOW:gnl|TIGR|8351.m04412 (48%) |species == Weed; gene == At5g46630; score == 428; expect == 3e-120; MEOW:ATgn0025402 (48%) |species == Human; gene == AP1M2; score == 332; expect == 3.1e-91; MEOW:HUgn0010053 (38%) |species == Human; gene == AP1M1; score == 328; expect == 2.6e-90; MEOW:HUgn0008907 (39%) |species == Yeast; gene == APM1; score == 289; expect == 5.2e-79; MEOW:SGgn0006180 (35%) |species == Yeast; gene == APM4; score == 263; expect == 1.6e-70; MEOW:SGgn0005423 (32%) } # EOR GENR { RETE|ID 1 HUgn0001174 CHR 1 7 DID 1 LocusLink:1174 MAP 1 7q22.1 NAM 1 adaptor-related protein complex 1, sigma 1 subunit ORG 1 Homo sapiens SYM 1 AP1S1 ID|HUgn0001174 DID|LocusLink:1174 ORG|Homo sapiens RSQ|REFSEQ:NM_001283 |REFSEQ:NM_057089 RPA|REFPROT:NP_001274 |REFPROT:NP_476430 DBA|XM:NM_001283 |XM:NM_057089 |XM:NM_001283 |XM:NM_057089 |NA:AB015319 |NA:BC003561 |NA:none PAC|XP:NP_001274 |XP:NP_476430 |XP:NP_001274 |XP:NP_476430 SYM|AP1S1 NAM|adaptor-related protein complex 1, sigma 1 subunit SYN|AP19 |CLAPS1 |SIGMA1A FNC|adaptor-related protein complex 1, sigma 1 subunit isoform 1 |adaptor-related protein complex 1, sigma 1 subunit isoform 2 |endocytosis ; GO:0006897 |intracellular protein transport ; GO:0006886 REAB|The protein encoded by this gene is part of the clathrin coat assembly complex which |links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis |and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, |and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at |the Golgi vesicle. Two alternatively spliced transcript variants of this gene, which |encode distinct isoforms, have been reported. CHR|7 PRD|AP1S1adaptor-related protein complex 1, sigma 1 subunit |clathrin-associated/assembly/adaptor protein, small 1 (19kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418710 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1174[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220201 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_057089 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_057089 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418710 DBL|UNIGENE:Hs.418710 |OMIM:603531 |SNP:1174 MAP|7q22.1 ENZ|protein transporter activity ; GO:0008565 |molecular_function unknown ; GO:0005554 CEL|Golgi trans face ; GO:0005802 |coated pit ; GO:0005905 |AP-1 adaptor complex ; GO:0030121 HG|species == Mouse; gene == Ap1s1; score == 316; expect == 2.6e-87; MEOW:MGgn0000419 (100%) |species == rat; score == 316; expect == 3.8e-87; MEOW:ref|XP_341053.1| (100%) |species == Human; gene == AP1S2; score == 283; expect == 2.7e-77; MEOW:HUgn0008905 (87%) |species == Mouse; gene == Ap1s2; score == 278; expect == 1.2e-75; MEOW:MGgn0014474 (86%) |species == rat; score == 278; expect == 1.2e-75; MEOW:ref|XP_217618.2| (86%) |species == Human; gene == LOC374814; score == 265; expect == 1.0e-71; MEOW:HUgn0374814 (86%) |species == Fruitfly; gene == AP-1&sgr;; score == 250; expect == 1.2e-67; MEOW:FBgn0039132 (76%) |species == Mosquito; gene == LOC23452; score == 245; expect == 4.9e-66; MEOW:AGgn0023452 (75%) |species == Mosquito; gene == LOC13513; score == 238; expect == 4.6e-64; MEOW:AGgn0013513 (75%) |species == Weed; gene == At2g17380; score == 190; expect == 3.2e-49; MEOW:ATgn0028326 (62%) |species == rice; score == 185; expect == 1.3e-47; MEOW:gnl|TIGR|8360.m05118 (55%) |species == rice; score == 185; expect == 1.1e-47; MEOW:gnl|TIGR|8360.m05375 (55%) |species == Yeast; gene == APS1; score == 164; expect == 2.3e-41; MEOW:SGgn0004160 (53%) |species == Weed; gene == At4g35410; score == 157; expect == 1.3e-39; MEOW:ATgn0020017 (66%) |species == Worm; gene == aps-2; score == 142; expect == 7.0e-35; MEOW:CEgn0007727 (45%) } # EOR GENR { RETE|ID 1 HUgn0001175 CHR 1 19 DID 1 LocusLink:1175 MAP 1 19q13.2-q13.3 NAM 1 adaptor-related protein complex 2, sigma 1 subunit ORG 1 Homo sapiens SYM 1 AP2S1 ID|HUgn0001175 DID|LocusLink:1175 ORG|Homo sapiens RSQ|REFSEQ:NM_004069 |REFSEQ:NM_021575 RPA|REFPROT:NP_004060 |REFPROT:NP_067586 DBA|XM:NM_004069 |XM:NM_021575 |NA:AJ010148 |NA:AJ010149 |NA:BC006337 |NA:X97074 |NA:none PAC|XP:NP_004060 |XP:NP_067586 SYM|AP2S1 NAM|adaptor-related protein complex 2, sigma 1 subunit SYN|AP17 |CLAPS2 |AP17-DELTA FNC|adaptor-related protein complex 2, sigma 1 subunit isoform AP17 |adaptor-related protein complex 2, sigma 1 subunit isoform AP17delta REAB|One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer |which is associated with the plasma membrane. This complex is composed of two large |chains, a medium chain, and a small chain. This gene encodes the small chain of |this complex. Alternative splicing has been observed in this gene and results in |two known transcripts. CHR|19 PRD|AP17, delta variant |clathrin assembly protein 2 small chain |clathrin-associated/assembly/adaptor protein, small 2 (17kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119591 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1175[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220202 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004069 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004069 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=119591 DBL|UNIGENE:Hs.119591 |OMIM:602242 |SNP:1175 MAP|19q13.2-q13.3 ENZ|vesicle transport ; GO:0005480 CEL|coated vesicle ; GO:0005909 HG|species == rat; score == 285; expect == 5.7e-78; MEOW:ref|XP_346535.1| (98%) |species == Mosquito; gene == LOC8517; score == 275; expect == 3.5e-75; MEOW:AGgn0008517 (95%) |species == Worm; gene == aps-2; score == 273; expect == 1.2e-74; MEOW:CEgn0007727 (93%) |species == Fruitfly; gene == AP-2&sgr;; score == 266; expect == 2.2e-72; MEOW:FBgn0043012 (91%) |species == Weed; gene == At1g47830; score == 189; expect == 4.3e-49; MEOW:ATgn0005969 (61%) |species == rice; score == 185; expect == 1.3e-47; MEOW:gnl|TIGR|8359.m00960 (61%) |species == rice; score == 155; expect == 1.5e-38; MEOW:gnl|TIGR|8360.m05118 (48%) |species == rice; score == 153; expect == 3.4e-38; MEOW:gnl|TIGR|8360.m05375 (46%) |species == Weed; gene == At2g17380; score == 152; expect == 4.5e-38; MEOW:ATgn0028326 (48%) |species == Human; gene == AP1S1; score == 144; expect == 2.1e-35; MEOW:HUgn0001174 (45%) |species == Mouse; gene == Ap1s1; score == 144; expect == 1.4e-35; MEOW:MGgn0000419 (45%) |species == Human; gene == AP1S2; score == 142; expect == 7.8e-35; MEOW:HUgn0008905 (47%) |species == Human; gene == LOC374814; score == 142; expect == 2.6e-34; MEOW:HUgn0374814 (47%) |species == Mouse; gene == Ap1s2; score == 142; expect == 1.0e-34; MEOW:MGgn0014474 (47%) |species == Mouse; gene == Ap1s3; score == 137; expect == 1.7e-33; MEOW:MGgn0042114 (43%) |species == Yeast; gene == APS2; score == 136; expect == 1.4e-33; MEOW:SGgn0003819 (48%) } # EOR GENR { RETE|ID 1 HUgn0001176 CHR 1 5 DID 1 LocusLink:1176 MAP 1 5q22 NAM 1 adaptor-related protein complex 3, sigma 1 subunit ORG 1 Homo sapiens SYM 1 AP3S1 ID|HUgn0001176 DID|LocusLink:1176 ORG|Homo sapiens RSQ|REFSEQ:NM_001284 RPA|REFPROT:NP_001275 DBA|XM:NM_001284 |NA:BC000804 |NA:BC012614 |NA:D63643 |NA:U91932 |NA:X99458 PAC|XP:NP_001275 SYM|AP3S1 NAM|adaptor-related protein complex 3, sigma 1 subunit SYN|CLAPS3 |Sigma3A FNC|adaptor-related protein complex 3, sigma 1 subunit |insulin receptor signaling pathway ; GO:0008286 |nonselective vesicle transport ; GO:0006899 |intracellular protein transport ; GO:0006886 CHR|5 PRD|clathrin-associated/assembly/adaptor protein, small 3 (22kD) |clathrin-associated/assembly/adaptor protein, small 3, 22-kD; Sigma3A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406191 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1176[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220203 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001284 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001284 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406191 DBL|UNIGENE:Hs.406191 |OMIM:601507 |SNP:1176 MAP|5q22 ENZ|protein transporter activity ; GO:0008565 CEL|Golgi-plasma membrane transport vesicle ; GO:0005808 |clathrin adaptor ; GO:0005906 |Golgi apparatus ; GO:0005794 |clathrin vesicle coat ; GO:0030125 HG|species == Mouse; gene == Ap3s1; score == 386; expect == 2e-108; MEOW:MGgn0000427 (100%) |species == rat; score == 386; expect == 3e-108; MEOW:ref|XP_217560.1| (100%) |species == Human; gene == AP3S2; score == 333; expect == 3.4e-92; MEOW:HUgn0010239 (84%) |species == Mouse; gene == Ap3s2; score == 333; expect == 2.3e-92; MEOW:MGgn0000428 (84%) |species == Mosquito; gene == LOC19053; score == 298; expect == 5.4e-82; MEOW:AGgn0019053 (76%) |species == Fruitfly; gene == or; score == 294; expect == 1.4e-80; MEOW:FBgn0003008 (78%) |species == Weed; gene == At3g50860; score == 165; expect == 1.2e-41; MEOW:ATgn0016599 (51%) |species == Yeast; gene == APS3; score == 137; expect == 1.1e-33; MEOW:SGgn0003561 (46%) } # EOR GENR { RETE|ID 1 HUgn0001177 DID 1 LocusLink:1177 NAM 1 statin ORG 1 Homo sapiens SYM 1 STN ID|HUgn0001177 DID|LocusLink:1177 ORG|Homo sapiens SYM|STN NAM|statin URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:142839 } # EOR GENR { RETE|ID 1 HUgn0001178 CHR 1 19 DID 1 LocusLink:1178 MAP 1 19q13.1 NAM 1 Charot-Leyden crystal protein ORG 1 Homo sapiens SYM 1 CLC ID|HUgn0001178 DID|LocusLink:1178 ORG|Homo sapiens RSQ|REFSEQ:NM_001828 RPA|REFPROT:NP_001819 DBA|XM:NM_001828 |NA:AC005393 |NA:L01665 |NA:U68398 |NA:L01664 |NA:none PAC|XP:NP_001819 SYM|CLC NAM|Charot-Leyden crystal protein SYN|LPPL_HUMAN FNC|Charot-Leyden crystal protein |phospholipid metabolism ; GO:0006644 |development ; GO:0007275 |lipid catabolism ; GO:0016042 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional |lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed |in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine |and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. |It is both structurally and functionally related to the galectin family of beta-galactoside |binding proteins. It may be associated with inflammation and some myeloid leukemias. CHR|19 PRD|galactin-10 |lysolecithin acylhydrolase |eosinophil lysophospholipase |Charcot-Leyden crystal protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=889 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127998 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001828 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001828 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00580 DBL|UNIGENE:Hs.889 |OMIM:153310 |SNP:1178 ENZ|EC:3.1.1.5 |serine esterase activity ; GO:0004759 |lysophospholipase activity ; GO:0004622 |sugar binding ; GO:0005529 |hydrolase activity ; GO:0016787 MAP|19q13.1 HG|species == Human; gene == PP13; score == 147; expect == 1.3e-36; MEOW:HUgn0029124 (56%) |species == Human; gene == LOC148003; score == 147; expect == 1.9e-36; MEOW:HUgn0148003 (52%) |species == Human; gene == PPL13; score == 139; expect == 3.7e-34; MEOW:HUgn0056891 (50%) } # EOR GENR { RETE|ID 1 HUgn0001179 CHR 1 1 DID 1 LocusLink:1179 MAP 1 1p31-p22 NAM 1 chloride channel, calcium activated, family member 1 ORG 1 Homo sapiens SYM 1 CLCA1 ID|HUgn0001179 DID|LocusLink:1179 ORG|Homo sapiens RSQ|REFSEQ:NM_001285 RPA|REFPROT:NP_001276 DBA|XM:NM_001285 |NA:AF039401 |NA:AF039400 |NA:AF127036 |NA:AK024970 |NA:AK097057 PAC|XP:NP_001276 SYM|CLCA1 NAM|chloride channel, calcium activated, family member 1 SYN|CaCC FNC|calcium activated chloride channel 1 precursor |chloride transport ; GO:0006821 |proton transport ; GO:0015992 |transport ; GO:0006810 REAB|The protein encoded by this gene belongs to the calcium sensitive chloride conductance |protein family. To date, all members of this gene family map to the same site on |chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted |structure, but differ significantly in their tissue distributions. This gene product |is expressed predominantly in the small intestine and colon mucosa, and may be involved |in secretory or absorptive processes. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194659 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1179[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848664 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001285 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001285 DBL|UNIGENE:Hs.194659 |OMIM:603906 |SNP:1179 MAP|1p31-p22 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Clca3; score == 1382; expect == 0.0; MEOW:MGgn0001418 (75%) |species == rat; score == 1352; expect == 0.0; MEOW:ref|XP_217689.2| (75%) |species == Human; gene == CLCA4; score == 1075; expect == 0.0; MEOW:HUgn0022802 (63%) } # EOR GENR { RETE|ID 1 HUgn0001180 CHR 1 7 DID 1 LocusLink:1180 MAP 1 7q32-qter NAM 1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ORG 1 Homo sapiens SYM 1 CLCN1 ID|HUgn0001180 DID|LocusLink:1180 ORG|Homo sapiens RSQ|REFSEQ:NM_000083 RPA|REFPROT:NP_000074 DBA|XM:NM_000083 |XM:NM_000083 |NA:L08263 |NA:Z25587 |NA:Z25752 |NA:Z25757 |NA:Z25760 |NA:Z25762 |NA:Z25768 |NA:Z25872 |NA:M97820 |NA:Z25884 |NA:none PAC|XP:NP_000074 |XP:NP_000074 SYM|CLCN1 NAM|chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) SYN|CLC1 FNC|chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) |chloride transport ; GO:0006821 |ion transport ; GO:0006811 |regulation of transcription, DNA-dependent ; GO:0006355 |muscle contraction ; GO:0006936 REAB|The CLCN family of voltage-dependent chloride channel genes comprises nine members |(CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics |while sharing significant sequence homology. The protein encoded by this gene regulates |the electric excitability of the skeletal muscle membrane. Mutations in this gene |cause two forms of inherited human muscle disorders: recessive generalized myotonia |congenita (Becker) and dominant myotonia (Thomsen). CHR|7 PRD|skeletal muscle chloride channel 1 |chloride channel 1 , skeletal muscle (Thomsen disease, autosomal dominant) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121483 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1180[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134688 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000083 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000083 |http://www.geneclinics.org/query?mim=118425 DBL|UNIGENE:Hs.121483 |OMIM:118425 |SNP:1180 |UWCM:134688.html MAP|7q32-qter PHP|Myotonia congenita, dominant |Myotonia congenita, recessive |Myotonia levior, recessive ENZ|voltage-gated chloride channel activity ; GO:0005247 |DNA binding ; GO:0003677 CEL|integral to plasma membrane ; GO:0005887 |nucleus ; GO:0005634 HG|species == Mouse; gene == Clcn1; score == 1622; expect == 0.0; MEOW:MGgn0001419 (87%) |species == rat; score == 1601; expect == 0.0; MEOW:ref|NP_037279.1| (87%) |species == Human; gene == CLCN2; score == 810; expect == 0.0; MEOW:HUgn0001181 (56%) |species == Fruitfly; gene == CG31116; score == 598; expect == 3e-171; MEOW:FBgn0051116 (44%) |species == Mosquito; gene == LOC18612; score == 585; expect == 2e-167; MEOW:AGgn0018612 (43%) |species == Worm; gene == clh-3; score == 523; expect == 3e-148; MEOW:CEgn0022743 (39%) |species == Worm; gene == clh-1; score == 431; expect == 1e-120; MEOW:CEgn0022741 (36%) |species == Yeast; gene == GEF1; score == 154; expect == 5.1e-38; MEOW:SGgn0003801 (26%) |species == Weed; gene == At3g27170; score == 139; expect == 6.1e-33; MEOW:ATgn0012940 (27%) } # EOR GENR { RETE|ID 1 HUgn0001181 CHR 1 3 DID 1 LocusLink:1181 MAP 1 3q27-q28 NAM 1 chloride channel 2 ORG 1 Homo sapiens SYM 1 CLCN2 ID|HUgn0001181 DID|LocusLink:1181 ORG|Homo sapiens RSQ|REFSEQ:NM_004366 RPA|REFPROT:NP_004357 DBA|XM:NM_004366 |NA:S77770 |NA:AF026004 |NA:BC021578 |NA:none PAC|XP:NP_004357 SYM|CLCN2 NAM|chloride channel 2 SYN|CLC2 |ECA3 |EGMA |CIC-2 FNC|chloride channel 2 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 CHR|3 PRD|ClC-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=419130 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1181[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270664 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004366 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004366 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=419130 DBL|UNIGENE:Hs.419130 |OMIM:600570 |SNP:1181 MAP|3q27-q28 PHP|Epilepsy with grand mal seizures on awakening |Epilepsy, childhood absence |Epilepsy, juvenile absence |Epilepsy, juvenile myoclonic ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Clcn2; score == 1525; expect == 0.0; MEOW:MGgn0001420 (94%) |species == rat; score == 1516; expect == 0.0; MEOW:ref|NP_058833.1| (93%) |species == Human; gene == CLCN1; score == 810; expect == 0.0; MEOW:HUgn0001180 (56%) |species == Fruitfly; gene == CG31116; score == 667; expect == 0.0; MEOW:FBgn0051116 (47%) |species == Mosquito; gene == LOC18612; score == 626; expect == 2e-179; MEOW:AGgn0018612 (46%) |species == Worm; gene == clh-3; score == 543; expect == 2e-154; MEOW:CEgn0022743 (42%) |species == Worm; gene == clh-1; score == 444; expect == 1e-124; MEOW:CEgn0022741 (36%) |species == Weed; gene == At5g26240; score == 136; expect == 4.7e-32; MEOW:ATgn0024828 (23%) } # EOR GENR { RETE|ID 1 HUgn0001182 CHR 1 4 DID 1 LocusLink:1182 MAP 1 4q33 NAM 1 chloride channel 3 ORG 1 Homo sapiens SYM 1 CLCN3 ID|HUgn0001182 DID|LocusLink:1182 ORG|Homo sapiens RSQ|REFSEQ:NM_001829 RPA|REFPROT:NP_001820 DBA|XM:NM_001829 |NA:AB019542 |NA:AF029346 |NA:AF172729 |NA:BC054877 |NA:BX647119 |NA:X78520 PAC|XP:NP_001820 SYM|CLCN3 NAM|chloride channel 3 SYN|CLC3 FNC|chloride channel 3 |chloride transport ; GO:0006821 CHR|4 PRD|ClC-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=372528 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1182[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270665 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001829 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001829 DBL|UNIGENE:Hs.372528 |OMIM:600580 |SNP:1182 MAP|4q33 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|membrane ; GO:0016020 HG|species == rat; score == 1458; expect == 0.0; MEOW:ref|XP_341429.1| (98%) |species == Mouse; gene == Clcn3; score == 1403; expect == 0.0; MEOW:MGgn0001421 (99%) |species == Human; gene == CLCN4; score == 1144; expect == 0.0; MEOW:HUgn0001183 (77%) |species == Mouse; gene == Clcn4-2; score == 1130; expect == 0.0; MEOW:MGgn0001423 (77%) |species == Human; gene == CLCN5; score == 1095; expect == 0.0; MEOW:HUgn0001184 (76%) |species == Fruitfly; gene == CG5284; score == 881; expect == 0.0; MEOW:FBgn0036566 (62%) |species == Mosquito; score == 866; expect == 0.0; MEOW:AGgn0018663 (62%) |species == Yeast; gene == GEF1; score == 300; expect == 1.6e-81; MEOW:SGgn0003801 (31%) |species == Worm; gene == clh-3; score == 218; expect == 1.1e-56; MEOW:CEgn0022743 (32%) |species == Worm; gene == clh-1; score == 212; expect == 6.8e-55; MEOW:CEgn0022741 (29%) |species == Weed; gene == At5g40890; score == 203; expect == 3.4e-52; MEOW:ATgn0021379 (28%) |species == Worm; gene == clh-6; score == 195; expect == 5.2e-50; MEOW:CEgn0022746 (31%) } # EOR GENR { RETE|ID 1 HUgn0001183 CHR 1 X DID 1 LocusLink:1183 MAP 1 Xp22.3 NAM 1 chloride channel 4 ORG 1 Homo sapiens SYM 1 CLCN4 ID|HUgn0001183 DID|LocusLink:1183 ORG|Homo sapiens RSQ|REFSEQ:NM_001830 RPA|REFPROT:NP_001821 DBA|XM:NM_001830 |NA:AC002364 |NA:AB019432 |NA:AF170492 |NA:X77197 |NA:none PAC|XP:NP_001821 SYM|CLCN4 NAM|chloride channel 4 SYN|CLC4 |ClC-4 FNC|chloride channel 4 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 REAB|The CLCN family of voltage-dependent chloride channel genes comprises nine members |(CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics |while sharing significant sequence homology. Chloride channel 4 has an evolutionary |conserved CpG island and is conserved in both mouse and hamster. This gene is mapped |in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular |albinism type I), which are both located on the human X chromosome at band p22.3. |The physiological role of chloride channel 4 remains unknown but may contribute |to the pathogenesis of neuronal disorders. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=417091 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1183[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270666 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001830 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001830 DBL|UNIGENE:Hs.417091 |OMIM:302910 |SNP:1183 MAP|Xp22.3 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1342; expect == 0.0; MEOW:ref|NP_071534.1| (98%) |species == Mouse; gene == Clcn4-2; score == 1340; expect == 0.0; MEOW:MGgn0001423 (97%) |species == Mouse; gene == Clcn3; score == 1149; expect == 0.0; MEOW:MGgn0001421 (78%) |species == Human; gene == CLCN3; score == 1144; expect == 0.0; MEOW:HUgn0001182 (77%) |species == rat; score == 1095; expect == 0.0; MEOW:ref|XP_341429.1| (77%) |species == rat; score == 1089; expect == 0.0; MEOW:ref|NP_058802.1| (78%) |species == Mouse; gene == Clcn5; score == 1083; expect == 0.0; MEOW:MGgn0001424 (77%) |species == Human; gene == CLCN5; score == 1074; expect == 0.0; MEOW:HUgn0001184 (78%) |species == Mosquito; score == 850; expect == 0.0; MEOW:AGgn0018663 (61%) |species == Fruitfly; gene == CG5284; score == 850; expect == 0.0; MEOW:FBgn0036566 (60%) |species == Yeast; gene == GEF1; score == 302; expect == 5.5e-82; MEOW:SGgn0003801 (31%) |species == Worm; gene == clh-1; score == 204; expect == 1.8e-52; MEOW:CEgn0022741 (29%) |species == Worm; gene == clh-3; score == 194; expect == 1.6e-49; MEOW:CEgn0022743 (30%) |species == Worm; gene == clh-6; score == 184; expect == 1.5e-46; MEOW:CEgn0022746 (31%) } # EOR GENR { RETE|ID 1 HUgn0001184 CHR 1 X DID 1 LocusLink:1184 MAP 1 Xp11.23-p11.22 NAM 1 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) ORG 1 Homo sapiens SYM 1 CLCN5 ID|HUgn0001184 DID|LocusLink:1184 ORG|Homo sapiens RSQ|REFSEQ:NM_000084 RPA|REFPROT:NP_000075 DBA|XM:NM_000084 |NA:AK056560 |NA:AK092049 |NA:BK000969 |NA:X81836 |NA:X91906 |NA:none PAC|XP:NP_000075 SYM|CLCN5 NAM|chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) SYN|XRN |CLC5 |XLRH |CLCK2 |DENTS |NPHL2 |hCIC-K2 |hClC-K2 FNC|chloride channel 5 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 |excretion ; GO:0007588 REAB|CLCN5 is a voltage-gated chloride channel. Mutation of this gene results in Dent disease and renal tubular disorders complicated by nephrolithiasis. CHR|X DBL|OMIM:300008 |SNP:1184 MAP|Xp11.23-p11.22 PHP|Dent disease |Hypophosphatemia, type III |Nephrolithiasis, type I |Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1184[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270667 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000084 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000084 |http://www.geneclinics.org/query?mim=300008 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Clcn5; score == 1327; expect == 0.0; MEOW:MGgn0001424 (97%) |species == rat; score == 1327; expect == 0.0; MEOW:ref|NP_058802.1| (98%) |species == Mouse; gene == Clcn3; score == 1098; expect == 0.0; MEOW:MGgn0001421 (76%) |species == Human; gene == CLCN3; score == 1095; expect == 0.0; MEOW:HUgn0001182 (76%) |species == rat; score == 1075; expect == 0.0; MEOW:ref|NP_071534.1| (78%) |species == Human; gene == CLCN4; score == 1074; expect == 0.0; MEOW:HUgn0001183 (78%) |species == Mouse; gene == Clcn4-2; score == 1074; expect == 0.0; MEOW:MGgn0001423 (77%) |species == rat; score == 1051; expect == 0.0; MEOW:ref|XP_341429.1| (76%) |species == Fruitfly; gene == CG5284; score == 859; expect == 0.0; MEOW:FBgn0036566 (62%) |species == Mosquito; score == 854; expect == 0.0; MEOW:AGgn0018663 (60%) |species == Yeast; gene == GEF1; score == 311; expect == 9.0e-85; MEOW:SGgn0003801 (32%) |species == Worm; gene == clh-1; score == 216; expect == 6.1e-56; MEOW:CEgn0022741 (31%) |species == Worm; gene == clh-3; score == 200; expect == 3.0e-51; MEOW:CEgn0022743 (28%) |species == Weed; gene == At5g40890; score == 199; expect == 5.0e-51; MEOW:ATgn0021379 (28%) |species == Worm; gene == clh-6; score == 189; expect == 2.6e-48; MEOW:CEgn0022746 (31%) |species == Weed; gene == At5g26240; score == 181; expect == 1.8e-45; MEOW:ATgn0024828 (29%) } # EOR GENR { RETE|ID 1 HUgn0001185 CHR 1 1 DID 1 LocusLink:1185 MAP 1 1p36 NAM 1 chloride channel 6 ORG 1 Homo sapiens SYM 1 CLCN6 ID|HUgn0001185 DID|LocusLink:1185 ORG|Homo sapiens RSQ|REFSEQ:NM_001286 |REFSEQ:NM_021735 |REFSEQ:NM_021736 |REFSEQ:NM_021737 RPA|REFPROT:NP_001277 |REFPROT:NP_068503 |REFPROT:NP_068504 |REFPROT:NP_068505 DBA|XM:NM_001286 |XM:NM_021735 |XM:NM_021736 |XM:NM_021737 |NA:AF009257 |NA:X99472 |NA:D28475 |NA:X83378 |NA:X96391 |NA:X99473 |NA:X99474 |NA:X99475 |NA:none PAC|XP:NP_001277 |XP:NP_068503 |XP:NP_068504 |XP:NP_068505 SYM|CLCN6 NAM|chloride channel 6 SYN|CLC-6 |KIAA0046 FNC|chloride channel 6 isoform ClC-6a |chloride channel 6 isoform ClC-6b |chloride channel 6 isoform ClC-6c |chloride channel 6 isoform ClC-6d |chloride transport ; GO:0006821 |regulation of cell volume ; GO:0006884 |ion transport ; GO:0006811 |signal transduction ; GO:0007165 REAB|The CLCN family of voltage-dependent chloride channel genes comprises nine members |(CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics |while sharing significant sequence homology. Chloride channel 6 and 7 belong to |a subbranch of this family. Chloride channel 6 has four different alternatively |spliced transcript variants. This gene is in close vicinity to two other kidney-specific |chloride channel genes, CLCNKA and CLCNKB. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371458 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=519876 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1185[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929143 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001286 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001286 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0046 DBL|UNIGENE:Hs.371458 |UNIGENE:Hs.519876 |OMIM:602726 |SNP:1185 MAP|1p36 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Clcn6; score == 1488; expect == 0.0; MEOW:MGgn0001425 (96%) |species == rat; score == 1480; expect == 0.0; MEOW:ref|XP_227870.2| (95%) |species == Human; gene == CLCN7; score == 425; expect == 6e-119; MEOW:HUgn0001186 (43%) |species == Mosquito; gene == LOC19052; score == 419; expect == 3e-117; MEOW:AGgn0019052 (43%) |species == Worm; gene == clh-6; score == 380; expect == 1e-105; MEOW:CEgn0022746 (43%) |species == Fruitfly; gene == CG8594; score == 367; expect == 1e-101; MEOW:FBgn0033755 (39%) |species == rice; score == 301; expect == 9.4e-82; MEOW:gnl|TIGR|8360.m04372 (34%) |species == Weed; gene == At5g40890; score == 291; expect == 9.6e-79; MEOW:ATgn0021379 (34%) |species == rice; score == 275; expect == 9.5e-74; MEOW:gnl|TIGR|8359.m02337 (31%) |species == Weed; gene == At5g26240; score == 274; expect == 1.2e-73; MEOW:ATgn0024828 (34%) |species == rice; score == 271; expect == 1.1e-72; MEOW:gnl|TIGR|8352.m05146 (34%) |species == Weed; gene == At3g27170; score == 265; expect == 5.7e-71; MEOW:ATgn0012940 (35%) |species == rice; score == 261; expect == 3.5e-69; MEOW:gnl|TIGR|8356.m01963 (35%) |species == rice; score == 259; expect == 1.0e-68; MEOW:gnl|TIGR|8350.m06164 (35%) |species == Weed; gene == At5g33280; score == 258; expect == 8.9e-69; MEOW:ATgn0021488 (34%) |species == Weed; gene == At5g49890; score == 243; expect == 2.6e-64; MEOW:ATgn0023556 (34%) } # EOR GENR { RETE|ID 1 HUgn0001186 CHR 1 16 DID 1 LocusLink:1186 MAP 1 16p13 NAM 1 chloride channel 7 ORG 1 Homo sapiens SYM 1 CLCN7 ID|HUgn0001186 DID|LocusLink:1186 ORG|Homo sapiens RSQ|REFSEQ:NM_001287 RPA|REFPROT:NP_001278 DBA|XM:NM_001287 |NA:AF224741 |NA:AK056551 |NA:AK122944 |NA:BC004946 |NA:BC006158 |NA:BC012737 |NA:BC015235 |NA:U88844 |NA:Z67743 |NA:none PAC|XP:NP_001278 SYM|CLCN7 NAM|chloride channel 7 SYN|CLC7 |CLC-7 |OPTA2 FNC|chloride channel 7 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 CHR|16 PRD|ClC-7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80768 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1186[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929156 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001287 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001287 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80768 DBL|UNIGENE:Hs.80768 |OMIM:602727 |SNP:1186 MAP|16p13 PHP|Osteopetrosis, autosomal dominant, type II |Osteopetrosis, recessive ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Clcn7; score == 1395; expect == 0.0; MEOW:MGgn0001426 (96%) |species == rat; score == 1394; expect == 0.0; MEOW:ref|NP_113756.1| (96%) |species == Mosquito; gene == LOC19052; score == 683; expect == 0.0; MEOW:AGgn0019052 (52%) |species == Fruitfly; gene == CG8594; score == 630; expect == 1e-180; MEOW:FBgn0033755 (50%) |species == Worm; gene == clh-6; score == 570; expect == 1e-162; MEOW:CEgn0022746 (48%) |species == Human; gene == CLCN6; score == 425; expect == 6e-119; MEOW:HUgn0001185 (43%) |species == rice; score == 358; expect == 6.5e-99; MEOW:gnl|TIGR|8360.m04372 (37%) |species == Weed; gene == At5g40890; score == 356; expect == 2.4e-98; MEOW:ATgn0021379 (33%) |species == Weed; gene == At3g27170; score == 336; expect == 2.6e-92; MEOW:ATgn0012940 (33%) |species == Weed; gene == At5g33280; score == 333; expect == 2.8e-91; MEOW:ATgn0021488 (34%) |species == Weed; gene == At5g26240; score == 333; expect == 2.3e-91; MEOW:ATgn0024828 (36%) |species == rice; score == 322; expect == 1.2e-87; MEOW:gnl|TIGR|8350.m06164 (35%) |species == rice; score == 316; expect == 6.4e-86; MEOW:gnl|TIGR|8352.m05146 (34%) |species == rice; score == 312; expect == 1.2e-84; MEOW:gnl|TIGR|8356.m01963 (34%) |species == rice; score == 311; expect == 1.2e-84; MEOW:gnl|TIGR|8359.m02337 (31%) |species == Weed; gene == At5g49890; score == 308; expect == 6.1e-84; MEOW:ATgn0023556 (35%) |species == rice; score == 293; expect == 4.5e-79; MEOW:gnl|TIGR|8351.m03299 (33%) } # EOR GENR { RETE|ID 1 HUgn0001187 CHR 1 1 DID 1 LocusLink:1187 MAP 1 1p36 NAM 1 chloride channel Ka ORG 1 Homo sapiens SYM 1 CLCNKA ID|HUgn0001187 DID|LocusLink:1187 ORG|Homo sapiens RSQ|REFSEQ:NM_004070 RPA|REFPROT:NP_004061 DBA|XM:NM_004070 |NA:BC035373 |NA:BC048282 |NA:BC053869 |NA:Z30643 |NA:none PAC|XP:NP_004061 SYM|CLCNKA NAM|chloride channel Ka FNC|chloride channel Ka |chloride transport ; GO:0006821 |ion transport ; GO:0006811 |excretion ; GO:0007588 REAB|The CLCNKA gene, a member of the chloride channel (ClC) family, encodes a kidney-specific |chloride channel that mediates transepithelial chloride transport in the thin ascending |limb of the Henle loop (tAL) in the inner medulla (Matsumura et al., 1999 [PubMed |9916798]). Transport of NaCl in the tAL is thought to be a component of urinary |concentration in a passive model of the countercurrent multiplication system. Each |member of the ClC family is thought to have 12 transmembrane domains and intracellular |N and C termini (Jentsch and Gunther, 1997 [PubMed 9046241]).[supplied by OMIM] CHR|1 PRD|hClC-Ka |Chloride channel, kidney, A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123123 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1187[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698471 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004070 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004070 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=123123 DBL|UNIGENE:Hs.123123 |OMIM:602024 |SNP:1187 MAP|1p36 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Human; gene == CLCNKB; score == 1181; expect == 0.0; MEOW:HUgn0001188 (91%) |species == rat; score == 1058; expect == 0.0; MEOW:ref|NP_445779.1| (82%) |species == Mouse; gene == Clcnk1l; score == 1055; expect == 0.0; MEOW:MGgn0028487 (80%) |species == Mouse; gene == Clcnk1; score == 1052; expect == 0.0; MEOW:MGgn0001431 (82%) |species == rat; score == 1036; expect == 0.0; MEOW:ref|NP_775126.1| (80%) |species == Fruitfly; gene == CG31116; score == 419; expect == 1e-117; MEOW:FBgn0051116 (44%) |species == Mosquito; gene == LOC18612; score == 406; expect == 3e-113; MEOW:AGgn0018612 (41%) |species == Worm; gene == clh-3; score == 371; expect == 1e-102; MEOW:CEgn0022743 (39%) |species == Worm; gene == clh-1; score == 303; expect == 2.9e-82; MEOW:CEgn0022741 (32%) |species == Worm; gene == clh-4; score == 298; expect == 4.7e-81; MEOW:CEgn0022744 (36%) } # EOR GENR { RETE|ID 1 HUgn0001188 CHR 1 1 DID 1 LocusLink:1188 MAP 1 1p36 NAM 1 chloride channel Kb ORG 1 Homo sapiens SYM 1 CLCNKB ID|HUgn0001188 DID|LocusLink:1188 ORG|Homo sapiens RSQ|REFSEQ:NM_000085 RPA|REFPROT:NP_000076 DBA|XM:NM_000085 |NA:U93879 |NA:AK098217 |NA:BC033806 |NA:S80315 |NA:Z30644 |NA:none PAC|XP:NP_000076 SYM|CLCNKB NAM|chloride channel Kb SYN|CLCKB FNC|chloride channel Kb |chloride transport ; GO:0006821 |ion transport ; GO:0006811 |excretion ; GO:0007588 REAB|Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride |channels, which comprises at least 9 mammalian chloride channels. Each is believed |to have 12 transmembrane domains and intracellular N and C termini. Mutations |in CLCNKB result in the autosomal recessive Type III Bartter Syndrome. CLCNKA and |CLCNKB are closely related (94% sequence identity), tightly linked (separated by |11 kb of genomic sequence) and are both expressed in mammalian kidney. CHR|1 PRD|hClC-Kb |Chloride channel, kidney, B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=352243 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1188[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698472 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000085 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000085 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=352243 DBL|UNIGENE:Hs.352243 |OMIM:602023 |SNP:1188 MAP|1p36 PHP|Bartter syndrome |Bartter syndrome, antenatal ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Human; gene == CLCNKA; score == 1181; expect == 0.0; MEOW:HUgn0001187 (91%) |species == rat; score == 1057; expect == 0.0; MEOW:ref|NP_445779.1| (81%) |species == Mouse; gene == Clcnk1; score == 1053; expect == 0.0; MEOW:MGgn0001431 (80%) |species == Mouse; gene == Clcnk1l; score == 1050; expect == 0.0; MEOW:MGgn0028487 (79%) |species == rat; score == 1049; expect == 0.0; MEOW:ref|NP_775126.1| (80%) |species == Fruitfly; gene == CG31116; score == 409; expect == 1e-114; MEOW:FBgn0051116 (42%) |species == Mosquito; gene == LOC18612; score == 394; expect == 1e-109; MEOW:AGgn0018612 (39%) |species == Worm; gene == clh-3; score == 365; expect == 7e-101; MEOW:CEgn0022743 (40%) |species == Worm; gene == clh-1; score == 308; expect == 1.2e-83; MEOW:CEgn0022741 (33%) |species == Worm; gene == clh-4; score == 293; expect == 1.5e-79; MEOW:CEgn0022744 (36%) } # EOR GENR { RETE|ID 1 HUgn0001189 DID 1 LocusLink:1189 NAM 1 colchicin sensitivity ORG 1 Homo sapiens SYM 1 CLCS ID|HUgn0001189 DID|LocusLink:1189 ORG|Homo sapiens SYM|CLCS NAM|colchicin sensitivity URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118771 } # EOR GENR { RETE|ID 1 HUgn0001190 CHR 1 7 DID 1 LocusLink:1190 MAP 1 7q31 NAM 1 congenital chloride diarrhea ORG 1 Homo sapiens SYM 1 CLD ID|HUgn0001190 DID|LocusLink:1190 ORG|Homo sapiens SYM|CLD NAM|congenital chloride diarrhea CHR|7 MAP|7q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:11508593 } # EOR GENR { RETE|ID 1 HUgn0001191 CHR 1 8 DID 1 LocusLink:1191 MAP 1 8p21-p12 NAM 1 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) ORG 1 Homo sapiens SYM 1 CLU ID|HUgn0001191 DID|LocusLink:1191 ORG|Homo sapiens RSQ|REFSEQ:NM_001831 RPA|REFPROT:NP_001822 DBA|XM:NM_001831 |NA:L00974 |NA:M63379 |NA:AK093399 |NA:BC010514 |NA:BC013221 |NA:BC019588 |NA:BC029972 |NA:BC033331 |NA:BC039442 |NA:BX648414 |NA:J02908 |NA:M25915 |NA:M64722 |NA:M74816 |NA:X14723 |NA:none PAC|XP:NP_001822 SYM|CLU NAM|clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) SYN|CLI |APOJ |SGP2 |SGP-2 |SP-40 |TRPM2 |TRPM-2 FNC|clusterin |complement activation, classical pathway ; GO:0006958 |cell death ; GO:0008219 |lipid metabolism ; GO:0006629 |fertilization (sensu Animalia) ; GO:0007338 |apoptosis ; GO:0006915 CHR|8 PRD|complement-associated protein SP-40 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436657 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1191[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125226 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001831 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001831 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436657 DBL|UNIGENE:Hs.436657 |OMIM:185430 |SNP:1191 MAP|8p21-p12 HG|species == rat; score == 693; expect == 0.0; MEOW:ref|NP_036811.2| (77%) |species == rat; score == 693; expect == 0.0; MEOW:ref|NP_444180.1| (77%) |species == Mouse; gene == Clu; score == 663; expect == 0.0; MEOW:MGgn0001462 (76%) |species == Human; gene == CLUL1; score == 141; expect == 6.8e-34; MEOW:HUgn0027098 (25%) } # EOR GENR { RETE|ID 1 HUgn0001192 CHR 1 6 DID 1 LocusLink:1192 MAP 1 6p22.1-p21.2 NAM 1 chloride intracellular channel 1 ORG 1 Homo sapiens SYM 1 CLIC1 ID|HUgn0001192 DID|LocusLink:1192 ORG|Homo sapiens RSQ|REFSEQ:NM_001288 RPA|REFPROT:NP_001279 DBA|XM:NM_001288 |NA:AF129756 |NA:AF034607 |NA:AF109197 |NA:AK129773 |NA:U93205 |NA:X87689 |NA:none PAC|XP:NP_001279 SYM|CLIC1 NAM|chloride intracellular channel 1 SYN|G6 |NCC27 FNC|chloride intracellular channel 1 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 REAB|Chloride channels are a diverse group of proteins that regulate fundamental cellular |processes including stabilization of cell membrane potential, transepithelial transport, |maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular |channel 1 is a member of the p64 family; the protein localizes principally to the |cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel |activity. CHR|6 PRD|p64CLCP |chloride channel ABP URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414565 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1192[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278990 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001288 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001288 DBL|UNIGENE:Hs.414565 |OMIM:602872 |SNP:1192 MAP|6p22.1-p21.2 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|nuclear membrane ; GO:0005635 |membrane ; GO:0016020 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Clic1; score == 483; expect == 2e-137; MEOW:MGgn0038830 (98%) |species == rat; score == 380; expect == 3e-106; MEOW:ref|XP_345084.1| (98%) |species == Human; gene == CLIC4; score == 337; expect == 4.5e-93; MEOW:HUgn0025932 (67%) |species == rat; score == 332; expect == 1.4e-91; MEOW:ref|NP_114006.1| (66%) |species == rat; score == 320; expect == 1.9e-87; MEOW:ref|NP_788267.1| (65%) |species == Human; gene == CLIC6; score == 313; expect == 1.6e-85; MEOW:HUgn0054102 (64%) |species == Human; gene == CLIC5; score == 310; expect == 5.8e-85; MEOW:HUgn0053405 (64%) |species == rat; score == 310; expect == 3.4e-85; MEOW:ref|NP_446055.1| (63%) |species == Human; gene == CLIC2; score == 288; expect == 1.8e-78; MEOW:HUgn0001193 (61%) } # EOR GENR { RETE|ID 1 HUgn0001193 CHR 1 X DID 1 LocusLink:1193 MAP 1 Xq28 NAM 1 chloride intracellular channel 2 ORG 1 Homo sapiens SYM 1 CLIC2 ID|HUgn0001193 DID|LocusLink:1193 ORG|Homo sapiens RSQ|REFSEQ:NM_001289 RPA|REFPROT:NP_001280 DBA|XM:NM_001289 |NA:AJ000217 |NA:AJ000218 |NA:AJ000219 |NA:BC005367 |NA:BC022305 |NA:Y12696 |NA:none PAC|XP:NP_001280 SYM|CLIC2 NAM|chloride intracellular channel 2 SYN|XAP121 FNC|chloride intracellular channel 2 |chloride transport ; GO:0006821 |ion transport ; GO:0006811 REAB|Chloride channels are a diverse group of proteins that regulate fundamental cellular |processes including stabilization of cell membrane potential, transepithelial transport, |maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular |channel 2 is a member of the p64 family; the protein is detected in fetal liver |and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome |X for incontinentia pigmenti. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54570 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1193[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9177478 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001289 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001289 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=54570 DBL|UNIGENE:Hs.54570 |OMIM:300138 |SNP:1193 MAP|Xq28 ENZ|voltage-gated chloride channel activity ; GO:0005247 CEL|membrane ; GO:0016020 |membrane fraction ; GO:0005624 HG|species == rat; score == 468; expect == 1e-132; MEOW:ref|XP_215295.1| (92%) |species == Human; gene == CLIC5; score == 334; expect == 3.9e-92; MEOW:HUgn0053405 (65%) |species == Mouse; gene == Clic6; score == 332; expect == 4.7e-91; MEOW:MGgn0035675 (65%) |species == Human; gene == CLIC6; score == 327; expect == 1.1e-89; MEOW:HUgn0054102 (66%) |species == Human; gene == CLIC4; score == 326; expect == 6.2e-90; MEOW:HUgn0025932 (65%) |species == Mouse; gene == Clic5; score == 326; expect == 5.4e-90; MEOW:MGgn0025984 (63%) |species == Mouse; gene == Clic4; score == 325; expect == 1.1e-89; MEOW:MGgn0013347 (65%) |species == Human; gene == CLIC1; score == 288; expect == 1.8e-78; MEOW:HUgn0001192 (61%) |species == Mouse; gene == Clic1; score == 285; expect == 1.2e-77; MEOW:MGgn0038830 (60%) } # EOR GENR { RETE|ID 1 HUgn0001195 CHR 1 2 DID 1 LocusLink:1195 MAP 1 2q33 NAM 1 CDC-like kinase 1 ORG 1 Homo sapiens SYM 1 CLK1 ID|HUgn0001195 DID|LocusLink:1195 ORG|Homo sapiens RSQ|REFSEQ:NM_004071 RPA|REFPROT:NP_004062 DBA|XM:NM_004071 |NA:AK025306 |NA:BC028149 |NA:BC028573 |NA:BC031549 |NA:L29219 |NA:L29222 |NA:M59287 |NA:none PAC|XP:NP_004062 SYM|CLK1 NAM|CDC-like kinase 1 SYN|CLK |STY FNC|CDC-like kinase 1 |protein amino acid phosphorylation ; GO:0006468 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 CHR|2 PRD|protein tyrosine kinase STY URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433732 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1195[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126862 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004071 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004071 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433732 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26594 DBL|UNIGENE:Hs.433732 |OMIM:601951 |SNP:1195 ENZ|EC:2.7.1.37 |non-membrane spanning protein tyrosine kinase activity ; GO:0004715 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|2q33 CEL|nucleus ; GO:0005634 HG|species == Human; gene == CLK4; score == 700; expect == 0.0; MEOW:HUgn0057396 (76%) |species == Mouse; gene == Clk4; score == 698; expect == 0.0; MEOW:MGgn0001450 (76%) |species == rat; score == 632; expect == 0.0; MEOW:ref|XP_217405.2| (93%) |species == Fruitfly; gene == Doa; score == 448; expect == 5e-126; MEOW:FBgn0000480 (60%) |species == Mosquito; score == 426; expect == 1e-119; MEOW:AGgn0010226 (59%) |species == Mosquito; gene == LOC10359; score == 426; expect == 1e-119; MEOW:AGgn0010359 (59%) |species == Mosquito; score == 384; expect == 2e-106; MEOW:AGgn0020229 (58%) |species == Mosquito; gene == LOC22425; score == 384; expect == 1e-106; MEOW:AGgn0022425 (58%) |species == Weed; gene == At4g24740; score == 320; expect == 7.3e-88; MEOW:ATgn0019622 (46%) |species == Weed; gene == At3g53570; score == 312; expect == 3.6e-85; MEOW:ATgn0013175 (45%) |species == rice; score == 306; expect == 2.5e-83; MEOW:gnl|TIGR|8350.m05822 (46%) |species == Weed; gene == At4g32660; score == 296; expect == 1.4e-80; MEOW:ATgn0020901 (44%) |species == Yeast; gene == KNS1; score == 254; expect == 1.6e-67; MEOW:SGgn0003942 (39%) |species == Worm; gene == mbk-2; score == 203; expect == 1.0e-52; MEOW:CEgn0011373 (32%) |species == Worm; gene == mbk-1; score == 169; expect == 2.8e-42; MEOW:CEgn0015360 (31%) |species == Zfish; gene == mapk14b; score == 127; expect == 5.5e-31; MEOW:ZFgn0003851 (28%) |species == chimp; score == 126; expect == 5.6e-31; MEOW:sp|Q95NE7|MK14_PANTR (27%) } # EOR GENR { RETE|ID 1 HUgn0001196 CHR 1 1 DID 1 LocusLink:1196 MAP 1 1q21 NAM 1 CDC-like kinase 2 ORG 1 Homo sapiens SYM 1 CLK2 ID|HUgn0001196 DID|LocusLink:1196 ORG|Homo sapiens RSQ|REFSEQ:NM_001291 |REFSEQ:NM_003993 RPA|REFPROT:NP_001282 |REFPROT:NP_003984 DBA|XM:NM_001291 |XM:NM_003993 |NA:AF023268 |NA:AK091036 |NA:BC006274 |NA:BC014067 |NA:BC022025 |NA:BC053603 |NA:L29216 |NA:L29218 |NA:none PAC|XP:NP_001282 |XP:NP_003984 SYM|CLK2 NAM|CDC-like kinase 2 FNC|CDC-like kinase 2 isoform hclk2 |CDC-like kinase 2 isoform hclk2/139 |protein amino acid phosphorylation ; GO:0006468 REAB|CLK2 encodes a serine/threonine type protein kinase with non-homologous N-terminal |regions. A long and short isoform result from alternative splicing and coexist in |different tissues. The short isoform (phclk2/139) lacks the C-terminal kinase domain. |The longer isoform (phclk2) is found in the nucleus and displays dual-specificity |kinase activity. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1196[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450746 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_003993 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_003993 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73986 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.73986 |OMIM:602989 |SNP:1196 MAP|1q21 ENZ|protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0001197 CHR 1 7 DID 1 LocusLink:1197 MAP 1 7p21-p15 NAM 1 CDC-like kinase 2, pseudogene ORG 1 Homo sapiens SYM 1 CLK2P ID|HUgn0001197 DID|LocusLink:1197 CLA|Pseudogene ORG|Homo sapiens SYM|CLK2P NAM|CDC-like kinase 2, pseudogene CHR|7 MAP|7p21-p15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9958306 } # EOR GENR { RETE|ID 1 HUgn0001198 CHR 1 15 DID 1 LocusLink:1198 MAP 1 15q24 NAM 1 CDC-like kinase 3 ORG 1 Homo sapiens SYM 1 CLK3 ID|HUgn0001198 DID|LocusLink:1198 ORG|Homo sapiens RSQ|REFSEQ:NM_001292 |REFSEQ:NM_003992 RPA|REFPROT:NP_001283 |REFPROT:NP_003983 DBA|XM:NM_001292 |XM:NM_003992 |NA:AK091692 |NA:AK096115 |NA:AK097982 |NA:AK122860 |NA:AL833165 |NA:BC002555 |NA:BC006103 |NA:BC009857 |NA:BC019881 |NA:BT006993 |NA:L29217 |NA:L29220 |NA:none PAC|XP:NP_001283 |XP:NP_003983 SYM|CLK3 NAM|CDC-like kinase 3 FNC|CDC-like kinase 3 isoform hclk3 |CDC-like kinase 3 isoform hclk3/152 |protein amino acid phosphorylation ; GO:0006468 REAB|CLK3 encodes a serine/threonine type protein kinase with a non-conserved N-terminal |domain. A long and short isoform (phclk3 and pclk3/152) result from alternative |splicing and coexist in different tissues. Isoform phclk3/152 lacks the kinase domain. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511790 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1198[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:451287 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_003992 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_003992 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.511790 |OMIM:602990 |SNP:1198 MAP|15q24 ENZ|protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Clk3; score == 152; expect == 4.1e-37; MEOW:MGgn0001449 (94%) } # EOR GENR { RETE|ID 1 HUgn0001199 CHR 1 7 DID 1 LocusLink:1199 MAP 1 7q31-q32 NAM 1 cutis laxa with marfanoid phenotype ORG 1 Homo sapiens SYM 1 CLM ID|HUgn0001199 DID|LocusLink:1199 ORG|Homo sapiens SYM|CLM NAM|cutis laxa with marfanoid phenotype CHR|7 MAP|7q31-q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128336 } # EOR GENR { RETE|ID 1 HUgn0001200 CHR 1 11 DID 1 LocusLink:1200 MAP 1 11p15 NAM 1 ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) ORG 1 Homo sapiens SYM 1 CLN2 ID|HUgn0001200 DID|LocusLink:1200 ORG|Homo sapiens RSQ|REFSEQ:NM_000391 RPA|REFPROT:NP_000382 DBA|XM:NM_000391 |NA:AF039704 |NA:AF017456 |NA:AY358502 |NA:BC014863 |NA:none PAC|XP:NP_000382 SYM|CLN2 NAM|ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) SYN|TPP1 |LINCL |TPP I |TPP-I FNC|ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) |proteolysis and peptidolysis ; GO:0006508 |lipid metabolism ; GO:0006629 |neurogenesis ; GO:0007399 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429658 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1200[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125228 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000391 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000391 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=429658 |http://www.geneclinics.org/query?mim=204500 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26600 DBL|UNIGENE:Hs.429658 |OMIM:607998 |SNP:1200 MAP|11p15 PHP|Ceroid-lipofuscinosis, neuronal 2, classic late infantile ENZ|serine-type endopeptidase activity ; GO:0004252 |peptidase activity ; GO:0008233 |tripeptidyl-peptidase I activity ; GO:0019131 CEL|lysosome ; GO:0005764 HG|species == rat; score == 1042; expect == 0.0; MEOW:ref|NP_112647.1| (87%) |species == Mouse; gene == Cln2; score == 990; expect == 0.0; MEOW:MGgn0001451 (87%) } # EOR GENR { RETE|ID 1 HUgn0001201 CHR 1 16 DID 1 LocusLink:1201 MAP 1 16p12.1 NAM 1 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ORG 1 Homo sapiens SYM 1 CLN3 ID|HUgn0001201 DID|LocusLink:1201 ORG|Homo sapiens RSQ|REFSEQ:NM_000086 RPA|REFPROT:NP_000077 DBA|XM:NM_000086 |NA:AC002425 |NA:AC002544 |NA:X99832 |NA:AF015593 |NA:AF015595 |NA:AF015598 |NA:AF077956 |NA:AF077957 |NA:AF077958 |NA:AF077959 |NA:AF077960 |NA:AF077961 |NA:AF077962 |NA:AF077963 |NA:AF077966 |NA:AF077967 |NA:AF077969 |NA:AF077970 |NA:AF077971 |NA:AF077972 |NA:AF077973 |NA:AF078169 |NA:AK090709 |NA:BC002394 |NA:BC004433 |NA:U32680 PAC|XP:NP_000077 SYM|CLN3 NAM|ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) SYN|BTS FNC|Batten disease protein CLN3 |protein folding ; GO:0006457 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194660 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446747 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1201[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120593 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000086 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=194660 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446747 |http://www.geneclinics.org/query?mim=204200 |http://www.geneclinics.org/query?mim=607042 |http://www.retina-international.com/sci-news/cln3mut.htm DBL|UNIGENE:Hs.194660 |UNIGENE:Hs.446747 |OMIM:607042 |SNP:1201 |UWCM:120593.html MAP|16p12.1 PHP|Ceroid-lipofuscinosis, neuronal-3, juvenile |Putative mitochondrial membrane protein, may have a role in chaperoning the folding/unfolding of other proteins ENZ|chaperone activity ; GO:0003754 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cln3; score == 653; expect == 0.0; MEOW:MGgn0001452 (85%) |species == rat; score == 644; expect == 0.0; MEOW:ref|XP_215084.2| (84%) |species == Fruitfly; gene == CG5582; score == 312; expect == 3.3e-85; MEOW:FBgn0036756 (42%) |species == Worm; gene == cln-3.2; score == 296; expect == 2.0e-80; MEOW:CEgn0026333 (40%) |species == Worm; gene == cln-3.1; score == 288; expect == 3.0e-78; MEOW:CEgn0026332 (40%) |species == Mosquito; score == 272; expect == 1.7e-73; MEOW:AGgn0002739 (42%) |species == Yeast; gene == YHC3; score == 146; expect == 2.3e-35; MEOW:SGgn0003595 (36%) } # EOR GENR { RETE|ID 1 HUgn0001202 DID 1 LocusLink:1202 NAM 1 ceroid-lipofuscinosis, neuronal 4 (Kufs disease) ORG 1 Homo sapiens SYM 1 CLN4 ID|HUgn0001202 DID|LocusLink:1202 ORG|Homo sapiens SYM|CLN4 NAM|ceroid-lipofuscinosis, neuronal 4 (Kufs disease) SYN|NCL DBL|OMIM:204300 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125229 } # EOR GENR { RETE|ID 1 HUgn0001203 CHR 1 13 DID 1 LocusLink:1203 MAP 1 13q21.1-q32 NAM 1 ceroid-lipofuscinosis, neuronal 5 ORG 1 Homo sapiens SYM 1 CLN5 ID|HUgn0001203 DID|LocusLink:1203 ORG|Homo sapiens RSQ|REFSEQ:NM_006493 RPA|REFPROT:NP_006484 DBA|XM:NM_006493 |NA:AF068227 |NA:none PAC|XP:NP_006484 SYM|CLN5 NAM|ceroid-lipofuscinosis, neuronal 5 SYN|NCL FNC|ceroid-lipofuscinosis, neuronal 5 |cell growth and/or maintenance ; GO:0008151 REAB|The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, |progressive encephalopathies in children. They are characterized by psychomotor |deterioration, visual failure, and the accumulation of autofluorescent lipopigment |in neurons and other cell types. The main childhood forms are the infantile type |(Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky-Bielschowsky |disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on |the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural |analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM] CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=30213 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1203[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230991 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006493 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006493 |http://www.geneclinics.org/query?mim=256731 DBL|UNIGENE:Hs.30213 |OMIM:608102 |SNP:1203 MAP|13q21.1-q32 PHP|Ceroid-lipofuscinosis, neuronal-5, variant late infantile CEL|lysosome ; GO:0005764 |integral to membrane ; GO:0016021 HG|species == rat; score == 537; expect == 4e-153; MEOW:ref|XP_224477.2| (76%) } # EOR GENR { RETE|ID 1 HUgn0001204 CHR 1 6 DID 1 LocusLink:1204 MAP 1 6p12-q13 NAM 1 chloride channel, nucleotide-sensitive, 1B ORG 1 Homo sapiens SYM 1 CLNS1B ID|HUgn0001204 DID|LocusLink:1204 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL031885 SYM|CLNS1B NAM|chloride channel, nucleotide-sensitive, 1B SYN|ICln CHR|6 MAP|6p12-q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9130566 } # EOR GENR { RETE|ID 1 HUgn0001206 DID 1 LocusLink:1206 NAM 1 ceroid-lipofuscinosis, neuronal 7, late infantile, variant ORG 1 Homo sapiens SYM 1 CLN7 ID|HUgn0001206 DID|LocusLink:1206 ORG|Homo sapiens SYM|CLN7 NAM|ceroid-lipofuscinosis, neuronal 7, late infantile, variant URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834888 } # EOR GENR { RETE|ID 1 HUgn0001207 CHR 1 11 DID 1 LocusLink:1207 MAP 1 11q13.5-q14 NAM 1 chloride channel, nucleotide-sensitive, 1A ORG 1 Homo sapiens SYM 1 CLNS1A ID|HUgn0001207 DID|LocusLink:1207 ORG|Homo sapiens RSQ|REFSEQ:NM_001293 RPA|REFPROT:NP_001284 DBA|XM:NM_001293 |NA:AF005422 |NA:AF026003 |NA:U17899 |NA:U53454 |NA:X91788 |NA:none PAC|XP:NP_001284 SYM|CLNS1A NAM|chloride channel, nucleotide-sensitive, 1A SYN|CLCI |ICln |CLNS1B FNC|chloride channel, nucleotide-sensitive, 1A |chloride transport ; GO:0006821 |regulation of cell volume ; GO:0006884 |transport ; GO:0006810 |vision ; GO:0007601 |circulation ; GO:0008015 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=417369 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1207[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3922523 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001293 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001293 DBL|UNIGENE:Hs.417369 |OMIM:602158 |SNP:1207 MAP|11q13.5-q14 ENZ|auxiliary transport protein activity ; GO:0015457 CEL|plasma membrane ; GO:0005886 |nucleus ; GO:0005634 HG|species == Human; gene == LOC152922; score == 363; expect == 8e-101; MEOW:HUgn0152922 (79%) |species == Mouse; gene == Clns1a; score == 362; expect == 1e-100; MEOW:MGgn0001427 (89%) |species == rat; score == 362; expect == 1e-100; MEOW:ref|NP_113907.1| (89%) |species == Zfish; gene == icln; score == 265; expect == 1.7e-71; MEOW:ZFgn0000237 (60%) } # EOR GENR { RETE|ID 1 HUgn0001208 CHR 1 6 DID 1 LocusLink:1208 MAP 1 6pter-p21.1 NAM 1 colipase, pancreatic ORG 1 Homo sapiens SYM 1 CLPS ID|HUgn0001208 DID|LocusLink:1208 ORG|Homo sapiens RSQ|REFSEQ:NM_001832 RPA|REFPROT:NP_001823 DBA|XM:NM_001832 |NA:M95529 |NA:BC007061 |NA:BC017897 |NA:BC025693 |NA:BC043489 |NA:J02883 |NA:none PAC|XP:NP_001823 SYM|CLPS NAM|colipase, pancreatic FNC|colipase preproprotein |digestion ; GO:0007586 |lipid catabolism ; GO:0016042 REAB|The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient |dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, |thereby stabilizing an active conformation and considerably increasing the overall |hydrophobic binding site. The gene product allows lipase to anchor noncovalently |to the surface of lipid micelles, counteracting the destabilizing influence of intestinal |bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting |regulation of expression by tissue-specific elements. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1340 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1208[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127277 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001832 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001832 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1340 DBL|UNIGENE:Hs.1340 |OMIM:120105 |SNP:1208 MAP|6pter-p21.1 ENZ|enzyme activator activity ; GO:0008047 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Clps; score == 166; expect == 1.1e-42; MEOW:MGgn0001457 (75%) |species == rat; score == 164; expect == 8.7e-42; MEOW:ref|NP_037271.1| (73%) } # EOR GENR { RETE|ID 1 HUgn0001209 CHR 1 19 DID 1 LocusLink:1209 MAP 1 19q13.2-q13.3 NAM 1 cleft lip and palate associated transmembrane protein 1 ORG 1 Homo sapiens SYM 1 CLPTM1 ID|HUgn0001209 DID|LocusLink:1209 ORG|Homo sapiens RSQ|REFSEQ:NM_001294 RPA|REFPROT:NP_001285 DBA|XM:NM_001294 |NA:AF037338 |NA:AF037339 |NA:AK074935 |NA:AK075262 |NA:BC004865 |NA:BC012359 |NA:BT007262 PAC|XP:NP_001285 SYM|CLPTM1 NAM|cleft lip and palate associated transmembrane protein 1 FNC|cleft lip and palate associated transmembrane protein 1 |development ; GO:0007275 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444441 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1209[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836111 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001294 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001294 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=444441 DBL|UNIGENE:Hs.444441 |OMIM:604783 |SNP:1209 MAP|19q13.2-q13.3 PHP|Very strongly similar to murine LOC56457; may be a thymic epithelial cell surface antigen; putative transmembrane protein CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1097; expect == 0.0; MEOW:ref|XP_214859.1| (94%) |species == Mouse; gene == Clptm1; score == 835; expect == 0.0; MEOW:MGgn0014949 (97%) |species == Fruitfly; gene == CG3702; score == 643; expect == 0.0; MEOW:FBgn0031590 (54%) |species == Mosquito; gene == LOC10165; score == 640; expect == 0.0; MEOW:AGgn0010165 (56%) |species == Worm; gene == C36B7.6; score == 605; expect == 2e-173; MEOW:CEgn0006107 (53%) |species == Worm; gene == R166.2; score == 595; expect == 3e-170; MEOW:CEgn0015056 (49%) |species == Weed; gene == At5g23575; score == 451; expect == 4e-127; MEOW:ATgn0030766 (43%) |species == Weed; gene == At5g08500; score == 444; expect == 5e-125; MEOW:ATgn0021949 (42%) |species == rice; score == 440; expect == 1e-123; MEOW:gnl|TIGR|8352.m03363 (41%) |species == Human; gene == CRR9; score == 320; expect == 1.6e-87; MEOW:HUgn0081037 (38%) } # EOR GENR { RETE|ID 1 HUgn0001210 CHR 1 X DID 1 LocusLink:1210 MAP 1 Xp22.2-p22.1 NAM 1 Coffin-Lowry syndrome ORG 1 Homo sapiens SYM 1 CLS ID|HUgn0001210 DID|LocusLink:1210 ORG|Homo sapiens SYM|CLS NAM|Coffin-Lowry syndrome CHR|X MAP|Xp22.2-p22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119784 |http://www.geneclinics.org/query?mim=303600 } # EOR GENR { RETE|ID 1 HUgn0001211 CHR 1 9 DID 1 LocusLink:1211 MAP 1 9p13 NAM 1 clathrin, light polypeptide (Lca) ORG 1 Homo sapiens SYM 1 CLTA ID|HUgn0001211 DID|LocusLink:1211 ORG|Homo sapiens RSQ|REFSEQ:NM_001833 |REFSEQ:NM_007096 RPA|REFPROT:NP_001824 |REFPROT:NP_009027 DBA|XM:NM_001833 |XM:NM_007096 |NA:BC009201 |NA:BC019287 |NA:M20471 |NA:M20472 |NA:none PAC|XP:NP_001824 |XP:NP_009027 SYM|CLTA NAM|clathrin, light polypeptide (Lca) SYN|LCA FNC|clathrin, light polypeptide A isoform a |clathrin, light polypeptide A isoform b |intracellular protein transport ; GO:0006886 REAB|Clathrin is the main structural component of the lattice covering the cytoplasmic |face of the coated pits and coated vesicles in which specific macromolecules are |entrapped in the process of receptor-mediated endocytosis. Clathrin is a large, |soluble protein composed of heavy chains and light chains. Two genes, CLTA and |CLTB encode the clathrin light chain proteins. The light chains are believed to |be regulatory elements in clathrin function. The brain-specific light chain variant |contains an insert ecoding 30 amino acids immediately downstream of the region encoding |the heavy chain binding domain. CHR|9 PRD|clathrin light chain LCA URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=207052 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1211[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128049 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007096 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007096 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=207052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.207052 |OMIM:118960 |SNP:1211 MAP|9p13 ENZ|calcium ion binding ; GO:0005509 |molecular_function unknown ; GO:0005554 CEL|coated pit ; GO:0005905 |clathrin vesicle coat ; GO:0030125 HG|species == Mouse; gene == Clta; score == 325; expect == 5.8e-90; MEOW:MGgn0001460 (85%) |species == Human; gene == CLTB; score == 237; expect == 3.1e-63; MEOW:HUgn0001212 (65%) |species == rat; score == 224; expect == 2.8e-59; MEOW:ref|NP_446287.1| (59%) |species == Mosquito; score == 161; expect == 1.6e-40; MEOW:AGgn0026839 (42%) |species == Mosquito; score == 152; expect == 5.8e-38; MEOW:AGgn0027399 (39%) |species == Mosquito; gene == LOC17984; score == 150; expect == 3.8e-37; MEOW:AGgn0017984 (41%) } # EOR GENR { RETE|ID 1 HUgn0001212 CHR 1 5 DID 1 LocusLink:1212 MAP 1 4q2-q3 NAM 1 clathrin, light polypeptide (Lcb) ORG 1 Homo sapiens SYM 1 CLTB ID|HUgn0001212 DID|LocusLink:1212 ORG|Homo sapiens RSQ|REFSEQ:NM_001834 |REFSEQ:NM_007097 RPA|REFPROT:NP_001825 |REFPROT:NP_009028 DBA|XM:NM_001834 |XM:NM_007097 |NA:BC006332 |NA:BC006457 |NA:BM761740 |NA:M20469 |NA:M20470 |NA:none PAC|XP:NP_001825 |XP:NP_009028 SYM|CLTB NAM|clathrin, light polypeptide (Lcb) SYN|LCB FNC|clathrin, light polypeptide isoform a |clathrin, light polypeptide isoform b |intracellular protein transport ; GO:0006886 REAB|Clathrin is the main structural component of the lattice covering the cytoplasmic |face of the coated pits and coated vesicles in which specific macromolecules are |entrapped in the process of receptor-mediated endocytosis. Clathrin is a large, |soluble protein composed of heavy chains and light chains. Two genes encode the |clathrin light chain proteins. The light chains are believed to be regulatory elements |in clathrin function. The brain-specific light chain variant contains an insert |encoding 18 aa immediately downstream of the region encoding the heavy chain binding |domain. Two transcript variants encoding different isoforms have been found for |this gene. CHR|5 PRD|clathrin light chain LCB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380749 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1212[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007097 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007097 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380749 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.380749 |OMIM:118970 |SNP:1212 MAP|4q2-q3 ENZ|calcium ion binding ; GO:0005509 |molecular_function unknown ; GO:0005554 CEL|coated pit ; GO:0005905 |clathrin vesicle coat ; GO:0030125 HG|species == Mouse; gene == Cltb; score == 349; expect == 6.1e-97; MEOW:MGgn0019925 (95%) |species == rat; score == 339; expect == 9.5e-94; MEOW:ref|NP_446287.1| (86%) |species == Human; gene == CLTA; score == 237; expect == 3.1e-63; MEOW:HUgn0001211 (65%) |species == Mosquito; score == 152; expect == 7.2e-38; MEOW:AGgn0026839 (41%) |species == Mosquito; score == 147; expect == 3.0e-36; MEOW:AGgn0027399 (37%) |species == Mosquito; gene == LOC17984; score == 136; expect == 4.1e-33; MEOW:AGgn0017984 (38%) } # EOR GENR { RETE|ID 1 HUgn0001213 CHR 1 17 DID 1 LocusLink:1213 MAP 1 17q11-qter NAM 1 clathrin, heavy polypeptide (Hc) ORG 1 Homo sapiens SYM 1 CLTC ID|HUgn0001213 DID|LocusLink:1213 ORG|Homo sapiens RSQ|REFSEQ:NM_004859 RPA|REFPROT:NP_004850 DBA|XM:NM_004859 |NA:AK127134 |NA:BC015854 |NA:BC036430 |NA:BC051800 |NA:BC054489 |NA:BX640615 |NA:D21260 |NA:X55878 |NA:none PAC|XP:NP_004850 SYM|CLTC NAM|clathrin, heavy polypeptide (Hc) SYN|CLTCL2 |KIAA0034 FNC|clathrin heavy chain |intracellular protein transport ; GO:0006886 REAB|Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, |called coated vesicles and coated pits. These specialized organelles are involved |in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. | The basic subunit of the clathrin coat is composed of three heavy chains and three |light chains. CHR|17 PRD|clathrin, heavy polypeptide-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=187416 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1213[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125862 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004859 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004859 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=187416 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0034 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26618 DBL|UNIGENE:Hs.187416 |OMIM:118955 |SNP:1213 MAP|17q11-qter ENZ|structural molecule activity ; GO:0005198 CEL|coated pit ; GO:0005905 |clathrin vesicle coat ; GO:0030125 HG|species == rat; score == 3277; expect == 0.0; MEOW:ref|NP_062172.1| (99%) |species == Mosquito; score == 2746; expect == 0.0; MEOW:AGgn0018215 (81%) |species == Fruitfly; gene == Chc; score == 2707; expect == 0.0; MEOW:FBgn0000319 (80%) |species == Human; gene == CLTCL1; score == 2556; expect == 0.0; MEOW:HUgn0008218 (80%) |species == Worm; gene == T20G5.1; score == 2422; expect == 0.0; MEOW:CEgn0016490 (71%) |species == rice; score == 1860; expect == 0.0; MEOW:gnl|TIGR|8359.m00039 (56%) |species == Weed; gene == At3g11130; score == 1841; expect == 0.0; MEOW:ATgn0015152 (55%) |species == Yeast; gene == CHC1; score == 1605; expect == 0.0; MEOW:SGgn0003174 (49%) } # EOR GENR { RETE|ID 1 HUgn0001215 CHR 1 14 DID 1 LocusLink:1215 MAP 1 14q11.2 NAM 1 chymase 1, mast cell ORG 1 Homo sapiens SYM 1 CMA1 ID|HUgn0001215 DID|LocusLink:1215 ORG|Homo sapiens RSQ|REFSEQ:NM_001836 RPA|REFPROT:NP_001827 DBA|XM:NM_001836 |NA:M64269 |NA:M69137 |NA:X59072 |NA:M69136 |NA:S61334 |NA:none PAC|XP:NP_001827 SYM|CMA1 NAM|chymase 1, mast cell SYN|CYH |MCT1 FNC|chymase 1, mast cell preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|This gene product is a chymotryptic serine proteinase that belongs to the peptidase |family S1. It is expressed in mast cells and thought to function in the degradation |of the extracellular matrix, the regulation of submucosal gland secretion, and the |generation of vasoactive peptides. In the heart and blood vessels, this protein, |rather than angiotensin converting enzyme, is largely responsible for converting |angiotensin I to the vasoactive peptide angiotensin II. Angiotensin II has been |implicated in blood pressure control and in the pathogenesis of hypertension, cardiac |hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular |disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other |proteases. CHR|14 PRD|chymase, heart |chymase, mast cell |mast cell protease I URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=135626 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1215[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127603 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001836 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001836 DBL|UNIGENE:Hs.135626 |OMIM:118938 |SNP:1215 ENZ|EC:3.4.21.39 |trypsin activity ; GO:0004295 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 |chymase activity ; GO:0030271 MAP|14q11.2 HG|species == Mouse; gene == Mcpt5; score == 367; expect == 2e-102; MEOW:MGgn0007465 (74%) |species == rat; score == 361; expect == 2e-100; MEOW:ref|NP_037224.1| (73%) |species == Mouse; gene == Mcpt4; score == 317; expect == 1.9e-87; MEOW:MGgn0007464 (64%) |species == Human; gene == CTSG; score == 241; expect == 2.6e-64; MEOW:HUgn0001511 (52%) |species == Human; gene == GZMB; score == 234; expect == 4.2e-62; MEOW:HUgn0003002 (52%) |species == Human; gene == GZMH; score == 219; expect == 8.1e-58; MEOW:HUgn0002999 (48%) } # EOR GENR { RETE|ID 1 HUgn0001217 CHR 1 1 DID 1 LocusLink:1217 MAP 1 1p10-1q10 NAM 1 cardiomyopathy, dilated 1A (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1A ID|HUgn0001217 DID|LocusLink:1217 ORG|Homo sapiens SYM|CMD1A NAM|cardiomyopathy, dilated 1A (autosomal dominant) SYN|IDC |CDDC |CDCD1 CHR|1 DBL|OMIM:115200 MAP|1p10-1q10 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:434478 |http://www.geneclinics.org/query?mim=115200 } # EOR GENR { RETE|ID 1 HUgn0001218 CHR 1 9 DID 1 LocusLink:1218 MAP 1 9q13-q22 NAM 1 cardiomyopathy, dilated 1B (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1B ID|HUgn0001218 DID|LocusLink:1218 ORG|Homo sapiens SYM|CMD1B NAM|cardiomyopathy, dilated 1B (autosomal dominant) SYN|FDC |CMPD1 CHR|9 DBL|OMIM:600884 MAP|9q13-q22 PHP|Cardiomyopathy, familial dilated 1B URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:677147 |http://www.geneclinics.org/query?mim=600884 } # EOR GENR { RETE|ID 1 HUgn0001219 CHR 1 10 DID 1 LocusLink:1219 MAP 1 10q21-q23 NAM 1 cardiomyopathy, dilated 1C (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1C ID|HUgn0001219 DID|LocusLink:1219 ORG|Homo sapiens SYM|CMD1C NAM|cardiomyopathy, dilated 1C (autosomal dominant) SYN|CMPD3 CHR|10 DBL|OMIM:601493 MAP|10q21-q23 PHP|Cardiomyopathy, dilated 1C URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9140435 |http://www.geneclinics.org/query?mim=601493 } # EOR GENR { RETE|ID 1 HUgn0001220 CHR 1 1 DID 1 LocusLink:1220 MAP 1 1q32 NAM 1 cardiomyopathy, dilated 1D (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1D ID|HUgn0001220 DID|LocusLink:1220 ORG|Homo sapiens SYM|CMD1D NAM|cardiomyopathy, dilated 1D (autosomal dominant) SYN|CMPD2 CHR|1 DBL|OMIM:601494 MAP|1q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836217 |http://www.geneclinics.org/query?mim=601494 } # EOR GENR { RETE|ID 1 HUgn0001221 CHR 1 3 DID 1 LocusLink:1221 MAP 1 3p25-p22 NAM 1 cardiomyopathy, dilated 1E (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1E ID|HUgn0001221 DID|LocusLink:1221 ORG|Homo sapiens SYM|CMD1E NAM|cardiomyopathy, dilated 1E (autosomal dominant) SYN|CDCD2 |CMPD2 CHR|3 DBL|OMIM:601154 MAP|3p25-p22 PHP|Cardiomyopathy, dilated, 1E URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836219 |http://www.geneclinics.org/query?mim=601154 } # EOR GENR { RETE|ID 1 HUgn0001222 CHR 1 6 DID 1 LocusLink:1222 MAP 1 6q23 NAM 1 cardiomyopathy, dilated 1F (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMD1F ID|HUgn0001222 DID|LocusLink:1222 ORG|Homo sapiens SYM|CMD1F NAM|cardiomyopathy, dilated 1F (autosomal dominant) SYN|CDCD3 CHR|6 DBL|OMIM:602067 MAP|6q23 PHP|Cardiomyopathy, dilated, 1F URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836221 |http://www.geneclinics.org/query?mim=602067 } # EOR GENR { RETE|ID 1 HUgn0001224 DID 1 LocusLink:1224 NAM 1 cardiomyopathy, dilated 2A (autosomal recessive) ORG 1 Homo sapiens SYM 1 CMD2A ID|HUgn0001224 DID|LocusLink:1224 ORG|Homo sapiens SYM|CMD2A NAM|cardiomyopathy, dilated 2A (autosomal recessive) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:701522 } # EOR GENR { RETE|ID 1 HUgn0001225 CHR 1 5 DID 1 LocusLink:1225 MAP 1 5p15.2-p14.1 NAM 1 craniometaphyseal dysplasia, Jackson type (dominant) ORG 1 Homo sapiens SYM 1 CMDJ ID|HUgn0001225 DID|LocusLink:1225 ORG|Homo sapiens SYM|CMDJ NAM|craniometaphyseal dysplasia, Jackson type (dominant) CHR|5 DBL|OMIM:123000 MAP|5p15.2-p14.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9595425 |http://www.geneclinics.org/query?mim=123000 } # EOR GENR { RETE|ID 1 HUgn0001227 CHR 1 1 DID 1 LocusLink:1227 MAP 1 1q32 NAM 1 cardiomyopathy, hypertrophic 2 ORG 1 Homo sapiens SYM 1 CMH2 ID|HUgn0001227 DID|LocusLink:1227 ORG|Homo sapiens SYM|CMH2 NAM|cardiomyopathy, hypertrophic 2 CHR|1 DBL|OMIM:115195 MAP|1q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:137324 |http://www.geneclinics.org/query?mim=115195 } # EOR GENR { RETE|ID 1 HUgn0001228 CHR 1 15 DID 1 LocusLink:1228 MAP 1 15q22.1 NAM 1 cardiomyopathy, hypertrophic 3 ORG 1 Homo sapiens SYM 1 CMH3 ID|HUgn0001228 DID|LocusLink:1228 ORG|Homo sapiens SYM|CMH3 NAM|cardiomyopathy, hypertrophic 3 CHR|15 PRD|cardiomyopathy, hypertrophy 3 DBL|OMIM:115196 MAP|15q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:138299 |http://www.geneclinics.org/query?mim=115196 } # EOR GENR { RETE|ID 1 HUgn0001230 CHR 1 3 DID 1 LocusLink:1230 MAP 1 3p21 NAM 1 chemokine (C-C motif) receptor 1 ORG 1 Homo sapiens SYM 1 CCR1 ID|HUgn0001230 DID|LocusLink:1230 ORG|Homo sapiens RSQ|REFSEQ:NM_001295 RPA|REFPROT:NP_001286 DBA|XM:NM_001295 |NA:BC051306 |NA:D10925 |NA:L09230 |NA:L10918 |NA:none PAC|XP:NP_001286 SYM|CCR1 NAM|chemokine (C-C motif) receptor 1 SYN|CKR-1 |HM145 |CMKBR1 |MIP1aR FNC|chemokine (C-C motif) receptor 1 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein signaling, coupled to cyclic nucleotide second messenger ; GO:0007187 |chemotaxis ; GO:0006935 |cell adhesion ; GO:0007155 |invasive growth ; GO:0007125 |immune response ; GO:0006955 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|This gene encodes a member of the beta chemokine receptor family, which is predicted |to be a seven transmembrane protein similar to G protein-coupled receptors. The |ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 |alpha), regulated on activation normal T expressed and secreted protein (RANTES), |monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 |(MPIF-1). Chemokines and their receptors mediated signal transduction are critical |for the recruitment of effector immune cells to the site of inflammation. Knockout |studies of the mouse homolog suggested the roles of this gene in host protection |from inflammatory response, and susceptibility to virus and parasite. This gene |and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, |are found to form a gene cluster on chromosome 3p. CHR|3 PRD|RANTES receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=301921 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1230[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138446 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001295 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001295 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=301921 DBL|UNIGENE:Hs.301921 |OMIM:601159 |SNP:1230 MAP|3p21 CEL|integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Ccr1; score == 495; expect == 2e-140; MEOW:MGgn0001471 (80%) |species == rat; score == 469; expect == 8e-133; MEOW:ref|NP_065417.1| (80%) |species == Human; gene == CCR3; score == 419; expect == 1e-117; MEOW:HUgn0001232 (63%) |species == Mouse; gene == Ccr3; score == 419; expect == 9e-118; MEOW:MGgn0001474 (63%) |species == rat; score == 411; expect == 3e-115; MEOW:ref|NP_446410.1| (63%) |species == rat; score == 411; expect == 2e-115; MEOW:ref|XP_236742.1| (66%) |species == Mouse; gene == Ccr1l1; score == 397; expect == 6e-111; MEOW:MGgn0001473 (61%) |species == chimp; score == 361; expect == 4e-100; MEOW:sp|O18770|O18770 (58%) |species == chimp; score == 338; expect == 3.4e-93; MEOW:sp|Q9TV50|Q9TV50 (57%) |species == chimp; score == 329; expect == 1.2e-90; MEOW:sp|AAK43377|AAK43377 (56%) |species == chimp; score == 329; expect == 1.2e-90; MEOW:sp|P56440|CKR5_PANTR (56%) |species == chimp; score == 325; expect == 3.0e-89; MEOW:sp|O18771|O18771 (56%) |species == chimp; score == 325; expect == 3.0e-89; MEOW:sp|O18772|O18772 (56%) |species == chimp; score == 322; expect == 1.4e-88; MEOW:sp|Q9TQW4|Q9TQW4 (57%) |species == chimp; score == 322; expect == 1.4e-88; MEOW:sp|Q9TUW5|Q9TUW5 (57%) |species == chimp; score == 322; expect == 2.4e-88; MEOW:sp|Q9TUW6|Q9TUW6 (57%) |species == chimp; score == 321; expect == 3.2e-88; MEOW:sp|Q9TUW7|Q9TUW7 (57%) |species == chimp; score == 320; expect == 5.4e-88; MEOW:sp|Q9TUW4|Q9TUW4 (57%) |species == Zfish; gene == cxcr4a; score == 172; expect == 2.0e-43; MEOW:ZFgn0002418 (36%) } # EOR GENR { RETE|ID 1 HUgn0001231 CHR 1 3 DID 1 LocusLink:1231 MAP 1 3p21 NAM 1 chemokine (C-C motif) receptor 2 ORG 1 Homo sapiens SYM 1 CCR2 ID|HUgn0001231 DID|LocusLink:1231 ORG|Homo sapiens RSQ|REFSEQ:NM_000647 |REFSEQ:NM_000648 RPA|REFPROT:NP_000638 |REFPROT:NP_000639 DBA|XM:NM_000647 |XM:NM_000648 |NA:U80924 |NA:U95626 |NA:D29984 |NA:U03882 |NA:U03905 |NA:none PAC|XP:NP_000638 |XP:NP_000639 SYM|CCR2 NAM|chemokine (C-C motif) receptor 2 SYN|CKR2 |CCR2A |CCR2B |CKR2A |CKR2B |CMKBR2 |MCP-1-R |CC-CKR-2 FNC|chemokine (C-C motif) receptor 2 isoform A |chemokine (C-C motif) receptor 2 isoform B |negative regulation of adenylate cyclase activity ; GO:0007194 |cytosolic calcium ion concentration elevation ; GO:0007204 |JAK-STAT cascade ; GO:0007259 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cellular defense response ; GO:0006968 |invasive growth ; GO:0007125 |inflammatory response ; GO:0006954 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, |a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant |protein-1 is involved in monocyte infiltration in inflammatory diseases such as |rheumatoid arthritis as well as in the inflammatory response against tumors. The |receptors encoded by this gene mediate agonist-dependent calcium mobilization and |inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene |cluster region. Two alternatively spliced transcript variants are expressed by the |gene. CHR|3 PRD|chemokine (C-C) receptor 2 |monocyte chemotactic protein 1 receptor |monocyte chemoattractant protein 1 receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511794 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=517814 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1231[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:337364 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000647 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000647 DBL|UNIGENE:Hs.511794 |UNIGENE:Hs.517814 |OMIM:601267 |SNP:1231 MAP|3p21 PHP|HIV infection, susceptibility/resistence to CEL|soluble fraction ; GO:0005625 |integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == rat; score == 452; expect == 2e-127; MEOW:ref|NP_068638.1| (77%) |species == Mouse; gene == Ccr2; score == 447; expect == 3e-126; MEOW:MGgn0001475 (77%) |species == Mouse; gene == Ccr5; score == 440; expect == 6e-124; MEOW:MGgn0001477 (76%) |species == chimp; score == 412; expect == 2e-117; MEOW:sp|AAK43377|AAK43377 (79%) |species == chimp; score == 412; expect == 2e-115; MEOW:sp|O18770|O18770 (79%) |species == chimp; score == 412; expect == 2e-117; MEOW:sp|P56440|CKR5_PANTR (79%) |species == chimp; score == 412; expect == 2e-117; MEOW:sp|Q9TQW4|Q9TQW4 (79%) |species == chimp; score == 412; expect == 4e-117; MEOW:sp|Q9TUW6|Q9TUW6 (79%) |species == chimp; score == 412; expect == 2e-117; MEOW:sp|Q9TUW7|Q9TUW7 (79%) |species == Human; gene == CCR5; score == 410; expect == 6e-115; MEOW:HUgn0001234 (78%) |species == rat; score == 410; expect == 8e-115; MEOW:ref|NP_446412.1| (76%) |species == chimp; score == 410; expect == 1e-116; MEOW:sp|Q9TUW4|Q9TUW4 (78%) |species == chimp; score == 410; expect == 1e-116; MEOW:sp|Q9TUW5|Q9TUW5 (78%) |species == chimp; score == 409; expect == 2e-116; MEOW:sp|Q9TV50|Q9TV50 (78%) |species == chimp; score == 408; expect == 6e-116; MEOW:sp|O18772|O18772 (78%) |species == chimp; score == 381; expect == 4e-106; MEOW:sp|O18771|O18771 (78%) |species == Human; gene == CCR3; score == 332; expect == 2.5e-91; MEOW:HUgn0001232 (54%) |species == Zfish; gene == cxcr4a; score == 157; expect == 4.7e-40; MEOW:ZFgn0002418 (32%) |species == Zfish; gene == cxcr4b; score == 149; expect == 9.9e-38; MEOW:ZFgn0002126 (31%) } # EOR GENR { RETE|ID 1 HUgn0001232 CHR 1 3 DID 1 LocusLink:1232 MAP 1 3p21.3 NAM 1 chemokine (C-C motif) receptor 3 ORG 1 Homo sapiens SYM 1 CCR3 ID|HUgn0001232 DID|LocusLink:1232 ORG|Homo sapiens RSQ|REFSEQ:NM_001837 |REFSEQ:NM_178329 RPA|REFPROT:NP_001828 |REFPROT:NP_847899 DBA|XM:NM_001837 |XM:NM_178329 |NA:AB023887 |NA:AF224497 |NA:AF237381 |NA:AF247359 |NA:AF247360 |NA:AF247361 |NA:AY221092 |NA:U49727 |NA:U51241 |NA:AF026535 |NA:AF224495 |NA:AF262299 |NA:AF262301 |NA:AF262302 |NA:AF262303 |NA:AF262304 |NA:AK123050 |NA:U28694 |NA:none PAC|XP:NP_001828 |XP:NP_847899 SYM|CCR3 NAM|chemokine (C-C motif) receptor 3 SYN|CKR3 |CMKBR3 |CC-CKR-3 FNC|CC chemokine receptor 3 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cellular defense response ; GO:0006968 |cell adhesion ; GO:0007155 |invasive growth ; GO:0007125 |inflammatory response ; GO:0006954 REAB|The protein encoded by this gene is a receptor for C-C type chemokines. It belongs |to family 1 of the G protein-coupled receptors. This receptor binds and responds |to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 |(CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils |and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial |cells. This receptor may contribute to the accumulation and activation of eosinophils |and other inflammatory cells in the allergic airway. It is also known to be an entry |co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a |chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced |transcript variants encoding the same protein have been described. CHR|3 PRD|b-chemokine receptor |eosinophil eotaxin receptor |eosinophil CC chemokine receptor 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=506190 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1232[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:579624 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001837 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001837 DBL|UNIGENE:Hs.506190 |OMIM:601268 |SNP:1232 MAP|3p21.3 CEL|integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Ccr3; score == 454; expect == 3e-128; MEOW:MGgn0001474 (69%) |species == rat; score == 445; expect == 2e-125; MEOW:ref|NP_446410.1| (69%) |species == Human; gene == CCR1; score == 419; expect == 1e-117; MEOW:HUgn0001230 (63%) |species == Mouse; gene == Ccr1; score == 397; expect == 2e-111; MEOW:MGgn0001471 (58%) |species == rat; score == 396; expect == 8e-111; MEOW:ref|NP_065417.1| (58%) |species == chimp; score == 340; expect == 1.0e-95; MEOW:sp|O18770|O18770 (54%) |species == Human; gene == CCR5; score == 338; expect == 3.5e-93; MEOW:HUgn0001234 (53%) |species == chimp; score == 338; expect == 5.1e-95; MEOW:sp|AAK43377|AAK43377 (53%) |species == chimp; score == 338; expect == 5.1e-95; MEOW:sp|P56440|CKR5_PANTR (53%) |species == chimp; score == 338; expect == 6.7e-95; MEOW:sp|Q9TV50|Q9TV50 (53%) |species == chimp; score == 336; expect == 1.9e-94; MEOW:sp|O18771|O18771 (53%) |species == chimp; score == 334; expect == 1.3e-93; MEOW:sp|O18772|O18772 (53%) |species == chimp; score == 334; expect == 7.4e-94; MEOW:sp|Q9TUW7|Q9TUW7 (54%) |species == chimp; score == 333; expect == 1.6e-93; MEOW:sp|Q9TQW4|Q9TQW4 (53%) |species == chimp; score == 333; expect == 2.1e-93; MEOW:sp|Q9TUW6|Q9TUW6 (53%) |species == chimp; score == 332; expect == 2.8e-93; MEOW:sp|Q9TUW4|Q9TUW4 (53%) |species == chimp; score == 283; expect == 7.3e-77; MEOW:sp|Q9TUW5|Q9TUW5 (53%) |species == Zfish; gene == cxcr4a; score == 179; expect == 1.4e-46; MEOW:ZFgn0002418 (33%) |species == Zfish; gene == cxcr4b; score == 165; expect == 1.6e-42; MEOW:ZFgn0002126 (31%) |species == Zfish; gene == oprm1; score == 151; expect == 3.2e-38; MEOW:ZFgn0002044 (29%) |species == Mosquito; gene == LOC9053; score == 132; expect == 1.6e-31; MEOW:AGgn0009053 (27%) } # EOR GENR { RETE|ID 1 HUgn0001233 CHR 1 3 DID 1 LocusLink:1233 MAP 1 3p24 NAM 1 chemokine (C-C motif) receptor 4 ORG 1 Homo sapiens SYM 1 CCR4 ID|HUgn0001233 DID|LocusLink:1233 ORG|Homo sapiens RSQ|REFSEQ:NM_005508 RPA|REFPROT:NP_005499 DBA|XM:NM_005508 |NA:AB023888 |NA:AB023889 |NA:AB023890 |NA:AB023891 |NA:AB023892 |NA:none PAC|XP:NP_005499 SYM|CCR4 NAM|chemokine (C-C motif) receptor 4 SYN|CKR4 |k5-5 |CMKBR4 |ChemR13 |CC-CKR-4 |HGCN:14099 FNC|chemokine (C-C motif) receptor 4 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |immune response ; GO:0006955 |inflammatory response ; GO:0006954 REAB|Chemokine (C-C) receptor 4 belongs to the G-protein-coupled receptor family . It |is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are |a group of small polypeptide, structurally related molecules that regulate cell |trafficking of various types of leukocytes. The chemokines also play fundamental |roles in the development, homeostasis, and function of the immune system, and they |have effects on cells of the central nervous system as well as on endothelial cells |involved in angiogenesis or angiostasis. CHR|3 PRD|chemokine (C-C) receptor 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184926 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1233[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:677463 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005508 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005508 DBL|UNIGENE:Hs.184926 |OMIM:604836 |SNP:1233 MAP|3p24 CEL|integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Ccr4; score == 607; expect == 2e-174; MEOW:MGgn0001476 (85%) |species == rat; score == 602; expect == 8e-173; MEOW:ref|NP_598216.2| (87%) |species == Human; gene == CCR5; score == 312; expect == 1.6e-85; MEOW:HUgn0001234 (49%) |species == chimp; score == 311; expect == 8.9e-87; MEOW:sp|AAK43377|AAK43377 (49%) |species == chimp; score == 311; expect == 8.9e-87; MEOW:sp|P56440|CKR5_PANTR (49%) |species == chimp; score == 311; expect == 6.8e-87; MEOW:sp|Q9TV50|Q9TV50 (51%) |species == chimp; score == 309; expect == 3.4e-86; MEOW:sp|O18770|O18770 (50%) |species == chimp; score == 309; expect == 3.4e-86; MEOW:sp|O18772|O18772 (49%) |species == chimp; score == 309; expect == 3.4e-86; MEOW:sp|Q9TQW4|Q9TQW4 (51%) |species == chimp; score == 309; expect == 3.4e-86; MEOW:sp|Q9TUW4|Q9TUW4 (51%) |species == Human; gene == CCR8; score == 308; expect == 3.0e-84; MEOW:HUgn0001237 (47%) |species == chimp; score == 308; expect == 4.4e-86; MEOW:sp|Q9TUW6|Q9TUW6 (51%) |species == chimp; score == 308; expect == 7.5e-86; MEOW:sp|Q9TUW7|Q9TUW7 (51%) |species == chimp; score == 307; expect == 1.7e-85; MEOW:sp|Q9TUW5|Q9TUW5 (51%) |species == Human; gene == CCR1; score == 305; expect == 3.3e-83; MEOW:HUgn0001230 (50%) |species == Human; gene == CCR3; score == 293; expect == 1.3e-79; MEOW:HUgn0001232 (49%) |species == Human; gene == CCR2; score == 281; expect == 3.9e-76; MEOW:HUgn0001231 (53%) |species == chimp; score == 272; expect == 2.3e-73; MEOW:sp|O18771|O18771 (49%) |species == Human; gene == CCR6; score == 253; expect == 9.2e-68; MEOW:HUgn0001235 (40%) |species == Zfish; gene == cxcr4a; score == 186; expect == 1.7e-47; MEOW:ZFgn0002418 (39%) |species == Zfish; gene == cxcr4b; score == 184; expect == 4.9e-47; MEOW:ZFgn0002126 (37%) } # EOR GENR { RETE|ID 1 HUgn0001234 CHR 1 3 DID 1 LocusLink:1234 MAP 1 3p21 NAM 1 chemokine (C-C motif) receptor 5 ORG 1 Homo sapiens SYM 1 CCR5 ID|HUgn0001234 DID|LocusLink:1234 ORG|Homo sapiens RSQ|REFSEQ:NM_000579 RPA|REFPROT:NP_000570 DBA|XM:NM_000579 |NA:AF009962 |NA:AF031237 |NA:U83326 |NA:U95626 |NA:X91492 |NA:AF011500 |NA:AF011501 |NA:AF011502 |NA:AF011503 |NA:AF011504 |NA:AF011505 |NA:AF011506 |NA:AF011507 |NA:AF011508 |NA:AF011509 |NA:AF011510 |NA:AF011511 |NA:AF011512 |NA:AF011513 |NA:AF011514 |NA:AF011515 |NA:AF011516 |NA:AF011517 |NA:AF011518 |NA:AF011519 |NA:AF011520 |NA:AF011521 |NA:AF011522 |NA:AF011523 |NA:AF011524 |NA:AF011525 |NA:AF011526 |NA:AF011527 |NA:AF011528 |NA:AF011529 |NA:AF011530 |NA:AF011531 |NA:AF011532 |NA:AF011533 |NA:AF011534 |NA:AF011535 |NA:AF011536 |NA:AF011537 |NA:BC038398 |NA:U54994 |NA:U57840 PAC|XP:NP_000570 SYM|CCR5 NAM|chemokine (C-C motif) receptor 5 SYN|CKR5 |CD195 |CKR-5 |CCCKR5 |CMKBR5 |CC-CKR-5 FNC|chemokine (C-C motif) receptor 5 |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |cytosolic calcium ion concentration elevation ; GO:0007204 |virulence ; GO:0009406 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cell surface receptor linked signal transduction ; GO:0007166 |cellular defense response ; GO:0006968 |invasive growth ; GO:0007125 |immune response ; GO:0006955 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|This gene encodes a member of the beta chemokine receptor family, which is predicted |to be a seven transmembrane protein similar to G protein-coupled receptors. This |protein is expressed by T cells and macrophages, and is known to be an important |co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective |alleles of this gene have been associated with the HIV infection resistance. The |ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage |inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta |(MIP-1 beta) and regulated on activation normal T expressed and secreted protein |(RANTES). Expression of this gene was also detected in a promyeloblastic cell line, |suggesting that this protein may play a role in granulocyte lineage proliferation |and differentiation. This gene is located at the chemokine receptor gene cluster |region. CHR|3 PRD|chemr13 |chemokine (C-C) receptor 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54443 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511796 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1234[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230510 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000579 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000579 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=54443 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511796 DBL|UNIGENE:Hs.54443 |UNIGENE:Hs.511796 |OMIM:601373 |SNP:1234 |UWCM:1230510.html MAP|3p21 PHP|HIV infection, susceptibility/resistance to ENZ|chemokine receptor activity ; GO:0004950 |coreceptor activity ; GO:0015026 CEL|endosome ; GO:0005768 |integral to plasma membrane ; GO:0005887 |cytoplasm ; GO:0005737 |plasma membrane ; GO:0005886 HG|species == chimp; score == 632; expect == 0.0; MEOW:sp|O18770|O18770 (97%) |species == chimp; score == 610; expect == 4e-175; MEOW:sp|Q9TV50|Q9TV50 (98%) |species == chimp; score == 606; expect == 1e-175; MEOW:sp|AAK43377|AAK43377 (99%) |species == chimp; score == 606; expect == 1e-175; MEOW:sp|P56440|CKR5_PANTR (99%) |species == chimp; score == 602; expect == 1e-172; MEOW:sp|O18771|O18771 (98%) |species == chimp; score == 602; expect == 1e-172; MEOW:sp|O18772|O18772 (98%) |species == chimp; score == 582; expect == 2e-168; MEOW:sp|Q9TQW4|Q9TQW4 (99%) |species == chimp; score == 582; expect == 2e-168; MEOW:sp|Q9TUW5|Q9TUW5 (99%) |species == chimp; score == 581; expect == 2e-166; MEOW:sp|Q9TUW7|Q9TUW7 (99%) |species == chimp; score == 578; expect == 2e-165; MEOW:sp|Q9TUW4|Q9TUW4 (98%) |species == chimp; score == 578; expect == 1e-165; MEOW:sp|Q9TUW6|Q9TUW6 (98%) |species == Mouse; gene == Ccr5; score == 567; expect == 4e-162; MEOW:MGgn0001477 (81%) |species == rat; score == 531; expect == 3e-151; MEOW:ref|NP_446412.1| (81%) |species == Mouse; gene == Ccr2; score == 465; expect == 2e-131; MEOW:MGgn0001475 (75%) |species == rat; score == 439; expect == 1e-123; MEOW:ref|NP_068638.1| (75%) |species == Human; gene == CCR2; score == 410; expect == 6e-115; MEOW:HUgn0001231 (78%) |species == Human; gene == CCR3; score == 338; expect == 3.5e-93; MEOW:HUgn0001232 (53%) |species == Zfish; gene == cxcr4a; score == 144; expect == 3.9e-36; MEOW:ZFgn0002418 (31%) |species == Zfish; gene == cxcr4b; score == 140; expect == 7.3e-35; MEOW:ZFgn0002126 (32%) } # EOR GENR { RETE|ID 1 HUgn0001235 CHR 1 6 DID 1 LocusLink:1235 MAP 1 6q27 NAM 1 chemokine (C-C motif) receptor 6 ORG 1 Homo sapiens SYM 1 CCR6 ID|HUgn0001235 DID|LocusLink:1235 ORG|Homo sapiens RSQ|REFSEQ:NM_004367 |REFSEQ:NM_031409 RPA|REFPROT:NP_004358 |REFPROT:NP_113597 DBA|XM:NM_004367 |XM:NM_031409 |NA:AL121935 |NA:U45984 |NA:U68032 |NA:Z79784 |NA:AY242126 |NA:BC037960 |NA:BX647686 |NA:U60000 |NA:U68030 |NA:U68031 |NA:none PAC|XP:NP_004358 |XP:NP_113597 SYM|CCR6 NAM|chemokine (C-C motif) receptor 6 SYN|BN-1 |CKR6 |DCR2 |CKRL3 |DRY-6 |GPR29 |CKR-L3 |CMKBR6 |GPRCY4 |STRL22 |GPR-CY4 FNC|chemokine (C-C motif) receptor 6 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |humoral immune response ; GO:0006959 |cellular defense response ; GO:0006968 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|This gene encodes a member of the beta chemokine receptor family, which is predicted |to be a seven transmembrane protein similar to G protein-coupled receptors. The |gene is preferentially expressed by immature dendritic cells and memory T cells. |The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). |This receptor has been shown to be important for B-lineage maturation and antigen-driven |B-cell differentiation, and it may regulate the migration and recruitment of dentritic |and T cells during inflammatory and immunological responses. Alternatively spliced |transcript variants that encode the same protein have been described for this gene. CHR|6 PRD|chemokine receptor-like 3 |chemokine (C-C) receptor 6 |G protein-coupled receptor 29 |seven-transmembrane receptor, lymphocyte, 22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=46468 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1235[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5370639 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031409 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031409 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=46468 DBL|UNIGENE:Hs.46468 |OMIM:601835 |SNP:1235 MAP|6q27 ENZ|receptor activity ; GO:0004872 |C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ccr6; score == 546; expect == 6e-156; MEOW:MGgn0001139 (74%) |species == rat; score == 541; expect == 3e-154; MEOW:ref|XP_217862.2| (74%) |species == Human; gene == CCR7; score == 268; expect == 2.8e-72; MEOW:HUgn0001236 (42%) |species == Human; gene == CCR4; score == 253; expect == 9.2e-68; MEOW:HUgn0001233 (40%) |species == Human; gene == IL8RA; score == 242; expect == 2.1e-64; MEOW:HUgn0003577 (41%) |species == chimp; score == 240; expect == 2.0e-65; MEOW:sp|P55920|IL8A_PANTR (41%) |species == Human; gene == IL8RB; score == 236; expect == 1.5e-62; MEOW:HUgn0003579 (41%) |species == chimp; score == 236; expect == 2.9e-64; MEOW:sp|Q28807|IL8B_PANTR (41%) |species == chimp; score == 236; expect == 3.8e-64; MEOW:sp|Q8HZN8|Q8HZN8 (41%) |species == Human; gene == CCR9; score == 231; expect == 4.9e-61; MEOW:HUgn0010803 (38%) |species == chimp; score == 222; expect == 5.6e-60; MEOW:sp|Q9TV16|Q9TV16 (36%) |species == Human; gene == CXCR6; score == 221; expect == 6.6e-58; MEOW:HUgn0010663 (35%) |species == Human; gene == CCR3; score == 218; expect == 4.3e-57; MEOW:HUgn0001232 (37%) |species == chimp; score == 214; expect == 1.2e-57; MEOW:sp|Q9TV50|Q9TV50 (37%) |species == chimp; score == 213; expect == 2.6e-57; MEOW:sp|O18770|O18770 (37%) |species == chimp; score == 212; expect == 5.8e-57; MEOW:sp|Q9TUW5|Q9TUW5 (36%) |species == chimp; score == 211; expect == 1.3e-56; MEOW:sp|AAK43377|AAK43377 (35%) |species == chimp; score == 211; expect == 1.3e-56; MEOW:sp|P56440|CKR5_PANTR (35%) |species == chimp; score == 210; expect == 2.2e-56; MEOW:sp|Q9TUW4|Q9TUW4 (36%) |species == Zfish; gene == cxcr4b; score == 191; expect == 3.9e-50; MEOW:ZFgn0002126 (37%) |species == Zfish; gene == cxcr4a; score == 184; expect == 4.7e-48; MEOW:ZFgn0002418 (34%) } # EOR GENR { RETE|ID 1 HUgn0001236 CHR 1 17 DID 1 LocusLink:1236 MAP 1 17q12-q21.2 NAM 1 chemokine (C-C motif) receptor 7 ORG 1 Homo sapiens SYM 1 CCR7 ID|HUgn0001236 DID|LocusLink:1236 ORG|Homo sapiens RSQ|REFSEQ:NM_001838 RPA|REFPROT:NP_001829 DBA|XM:NM_001838 |NA:L31584 |NA:X84702 |NA:AK127810 |NA:BC035343 |NA:BU740631 |NA:L08176 |NA:L31581 |NA:none PAC|XP:NP_001829 SYM|CCR7 NAM|chemokine (C-C motif) receptor 7 SYN|BLR2 |EBI1 |CDw197 |CMKBR7 FNC|chemokine (C-C motif) receptor 7 precursor |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |inflammatory response ; GO:0006954 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The protein encoded by this gene is a member of the G protein-coupled receptor family. |This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), |and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is |expressed in various lymphoid tissues and activates B and T lymphocytes. It has |been shown to control the migration of memory T cells to inflamed tissues, as well |as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) |has been reported to be a specific ligand of this receptor. CHR|17 PRD|MIP-3 beta receptor |chemokine (C-C) receptor 7 |C-C chemokine receptor type 7 |Epstein-Barr virus induced gene 1 |EBV-induced G protein-coupled receptor 1 |Epstein-Barr virus induced G-protein coupled receptor |lymphocyte-specific G protein-coupled peptide receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1652 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1236[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:342065 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001838 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001838 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1652 DBL|UNIGENE:Hs.1652 |OMIM:600242 |SNP:1236 MAP|17q12-q21.2 CEL|integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Ccr7; score == 634; expect == 0.0; MEOW:MGgn0001478 (86%) |species == rat; score == 577; expect == 4e-165; MEOW:ref|XP_213486.2| (85%) |species == Human; gene == CCR9; score == 273; expect == 1.1e-73; MEOW:HUgn0010803 (43%) |species == Human; gene == CCR6; score == 268; expect == 2.8e-72; MEOW:HUgn0001235 (42%) |species == chimp; score == 219; expect == 1.3e-57; MEOW:sp|Q9TV16|Q9TV16 (36%) |species == chimp; score == 215; expect == 3.4e-56; MEOW:sp|P30991|CCR4_HUMAN (35%) |species == chimp; score == 192; expect == 3.1e-49; MEOW:sp|O18770|O18770 (39%) |species == chimp; score == 188; expect == 1.2e-49; MEOW:sp|Q9TV50|Q9TV50 (39%) |species == Zfish; gene == cxcr4a; score == 187; expect == 1.0e-47; MEOW:ZFgn0002418 (39%) |species == chimp; score == 187; expect == 1.6e-49; MEOW:sp|Q28807|IL8B_PANTR (37%) |species == chimp; score == 187; expect == 2.0e-49; MEOW:sp|Q9TUW4|Q9TUW4 (38%) |species == chimp; score == 186; expect == 4.5e-49; MEOW:sp|AAK43377|AAK43377 (38%) |species == chimp; score == 186; expect == 2.7e-49; MEOW:sp|Q8HZN8|Q8HZN8 (36%) |species == chimp; score == 186; expect == 4.5e-49; MEOW:sp|Q9TQW4|Q9TQW4 (38%) |species == chimp; score == 186; expect == 4.5e-49; MEOW:sp|Q9TUW6|Q9TUW6 (38%) |species == chimp; score == 186; expect == 4.5e-49; MEOW:sp|Q9TUW7|Q9TUW7 (38%) |species == Zfish; gene == cxcr4b; score == 178; expect == 3.5e-45; MEOW:ZFgn0002126 (36%) } # EOR GENR { RETE|ID 1 HUgn0001237 CHR 1 3 DID 1 LocusLink:1237 MAP 1 3p22 NAM 1 chemokine (C-C motif) receptor 8 ORG 1 Homo sapiens SYM 1 CCR8 ID|HUgn0001237 DID|LocusLink:1237 ORG|Homo sapiens RSQ|REFSEQ:NM_005201 RPA|REFPROT:NP_005192 DBA|XM:NM_005201 |NA:U45983 |NA:U62556 |NA:Y08456 |NA:Z79782 |NA:AF005210 |NA:D49919 |NA:none PAC|XP:NP_005192 SYM|CCR8 NAM|chemokine (C-C motif) receptor 8 SYN|CY6 |TER1 |CKRL1 |CKR-L1 |CMKBR8 |CMKBRL2 |GPR-CY6 FNC|chemokine (C-C motif) receptor 8 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cell adhesion ; GO:0007155 |immune response ; GO:0006955 REAB|This gene encodes a member of the beta chemokine receptor family, which is predicted |to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines |and their receptors are important for the migration of various cell types into the |inflammatory sites. This receptor protein preferentially expresses in the thymus. |I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 |beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this |receptor and its ligands suggested its role in regulation of monocyte chemotaxis |and thymic cell apoptosis. More specifically, this receptor may contribute to the |proper positioning of activated T cells within the antigenic challenge sites and |specialized areas of lymphoid tissues. This gene is located at the chemokine receptor |gene cluster region. CHR|3 PRD|chemokine (C-C) receptor 8 |CC-chemokine receptor chemr1 |chemokine (C-C) receptor-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113222 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1237[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053733 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005201 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005201 DBL|UNIGENE:Hs.113222 |OMIM:601834 |SNP:1237 MAP|3p22 ENZ|coreceptor activity ; GO:0015026 |C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 495; expect == 2e-140; MEOW:ref|XP_236704.1| (71%) |species == Mouse; gene == Ccr8; score == 490; expect == 4e-139; MEOW:MGgn0001479 (70%) |species == Human; gene == CCR4; score == 308; expect == 3.0e-84; MEOW:HUgn0001233 (47%) |species == Human; gene == CCR1; score == 266; expect == 9.9e-72; MEOW:HUgn0001230 (44%) |species == chimp; score == 266; expect == 3.2e-73; MEOW:sp|Q9TV50|Q9TV50 (44%) |species == chimp; score == 265; expect == 7.2e-73; MEOW:sp|AAK43377|AAK43377 (43%) |species == chimp; score == 265; expect == 4.2e-73; MEOW:sp|O18770|O18770 (44%) |species == chimp; score == 265; expect == 7.2e-73; MEOW:sp|P56440|CKR5_PANTR (43%) |species == Human; gene == CCR5; score == 263; expect == 1.1e-70; MEOW:HUgn0001234 (43%) |species == chimp; score == 263; expect == 1.6e-72; MEOW:sp|Q9TUW4|Q9TUW4 (44%) |species == chimp; score == 263; expect == 1.6e-72; MEOW:sp|Q9TUW5|Q9TUW5 (44%) |species == chimp; score == 262; expect == 3.6e-72; MEOW:sp|Q9TQW4|Q9TQW4 (44%) |species == chimp; score == 262; expect == 4.6e-72; MEOW:sp|Q9TUW6|Q9TUW6 (44%) |species == chimp; score == 261; expect == 7.9e-72; MEOW:sp|Q9TUW7|Q9TUW7 (43%) |species == chimp; score == 260; expect == 1.4e-71; MEOW:sp|O18771|O18771 (43%) |species == Human; gene == CCR2; score == 258; expect == 4.6e-69; MEOW:HUgn0001231 (43%) |species == Human; gene == CX3CR1; score == 255; expect == 3.9e-68; MEOW:HUgn0001524 (41%) |species == Human; gene == CCR3; score == 249; expect == 2.1e-66; MEOW:HUgn0001232 (39%) |species == chimp; score == 224; expect == 4.2e-59; MEOW:sp|O18772|O18772 (40%) |species == Zfish; gene == cxcr4a; score == 181; expect == 2.9e-47; MEOW:ZFgn0002418 (32%) |species == Zfish; gene == cxcr4b; score == 169; expect == 1.1e-43; MEOW:ZFgn0002126 (32%) |species == Fruitfly; gene == AlstR; score == 140; expect == 8.2e-34; MEOW:FBgn0028961 (28%) } # EOR GENR { RETE|ID 1 HUgn0001238 CHR 1 3 DID 1 LocusLink:1238 MAP 1 3p21.3 NAM 1 chemokine binding protein 2 ORG 1 Homo sapiens SYM 1 CCBP2 ID|HUgn0001238 DID|LocusLink:1238 ORG|Homo sapiens RSQ|REFSEQ:NM_001296 RPA|REFPROT:NP_001287 DBA|XM:NM_001296 |NA:BC008816 |NA:BC011631 |NA:BC020558 |NA:BE901130 |NA:BT006800 |NA:U94888 |NA:Y12815 |NA:none PAC|XP:NP_001287 SYM|CCBP2 NAM|chemokine binding protein 2 SYN|D6 |CCR9 |CCR10 |CMKBR9 FNC|chemokine binding protein 2 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |development ; GO:0007275 |immune response ; GO:0006955 REAB|This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane |protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated |signal transduction are critical for the recruitment of effector immune cells to |the inflammation site. This gene is expressed in a range of tissues and hemopoietic |cells. The expression of this receptor in lymphatic endothelial cells and overexpression |in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes |and possible chemokine effects on the development and growth of vascular tumors. |This receptor appears to bind the majority of beta-chemokine family members; however, |its specific function remains unknown. This gene is mapped to chromosome 3p21.3, |a region that includes a cluster of chemokine receptor genes. CHR|3 PRD|hD6 |chemokine (C-C) receptor 9 |chemokine (C-C motif) receptor 9 |CC-chemokine-binding receptor JAB61 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24286 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1238[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836460 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001296 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001296 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=24286 DBL|UNIGENE:Hs.24286 |OMIM:602648 |SNP:1238 MAP|3p21.3 CEL|integral to plasma membrane ; GO:0005887 ENZ|C-C chemokine receptor activity ; GO:0016493 |rhodopsin-like receptor activity ; GO:0001584 HG|species == rat; score == 438; expect == 3e-123; MEOW:ref|NP_511176.1| (72%) |species == Mouse; gene == AI464239; score == 424; expect == 4e-119; MEOW:MGgn0014645 (70%) |species == Human; gene == CCR4; score == 221; expect == 3.7e-58; MEOW:HUgn0001233 (42%) |species == Human; gene == CCR8; score == 218; expect == 5.3e-57; MEOW:HUgn0001237 (37%) |species == Human; gene == CCR2; score == 194; expect == 6.6e-50; MEOW:HUgn0001231 (37%) |species == Zfish; gene == cxcr4b; score == 173; expect == 1.5e-43; MEOW:ZFgn0002126 (36%) |species == chimp; score == 158; expect == 3.7e-39; MEOW:sp|P55920|IL8A_PANTR (37%) |species == chimp; score == 152; expect == 2.1e-37; MEOW:sp|Q8HZN8|Q8HZN8 (38%) |species == chimp; score == 151; expect == 7.8e-37; MEOW:sp|Q28807|IL8B_PANTR (37%) |species == chimp; score == 128; expect == 8.7e-32; MEOW:sp|Q9TUW5|Q9TUW5 (38%) |species == chimp; score == 128; expect == 8.7e-32; MEOW:sp|Q9TV50|Q9TV50 (39%) |species == chimp; score == 127; expect == 1.5e-31; MEOW:sp|AAK43377|AAK43377 (37%) |species == chimp; score == 127; expect == 2.5e-31; MEOW:sp|O18771|O18771 (37%) |species == chimp; score == 127; expect == 1.5e-31; MEOW:sp|P56440|CKR5_PANTR (37%) |species == chimp; score == 127; expect == 1.9e-31; MEOW:sp|Q9TQW4|Q9TQW4 (38%) |species == chimp; score == 127; expect == 1.9e-31; MEOW:sp|Q9TUW6|Q9TUW6 (38%) } # EOR GENR { RETE|ID 1 HUgn0001240 CHR 1 12 DID 1 LocusLink:1240 MAP 1 12q24.1 NAM 1 chemokine-like receptor 1 ORG 1 Homo sapiens SYM 1 CMKLR1 ID|HUgn0001240 DID|LocusLink:1240 ORG|Homo sapiens RSQ|REFSEQ:NM_004072 RPA|REFPROT:NP_004063 DBA|XM:NM_004072 |NA:L12406 |NA:U79526 |NA:U79527 |NA:none PAC|XP:NP_004063 SYM|CMKLR1 NAM|chemokine-like receptor 1 FNC|chemokine-like receptor 1 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |skeletal development ; GO:0001501 |immune response ; GO:0006955 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159553 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1240[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:687010 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004072 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004072 DBL|UNIGENE:Hs.159553 |OMIM:602351 |SNP:1240 MAP|12q24.1 ENZ|chemokine receptor activity ; GO:0004950 |receptor activity ; GO:0004872 |G-protein coupled receptor activity, unknown ligand ; GO:0016526 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 535; expect == 1e-152; MEOW:ref|NP_071554.1| (79%) |species == Mouse; gene == Gpr1; score == 226; expect == 1.5e-59; MEOW:MGgn0044040 (39%) |species == Mouse; gene == Fpr1; score == 224; expect == 5.8e-59; MEOW:MGgn0004415 (38%) |species == Mouse; gene == Fpr-rs7; score == 213; expect == 1.6e-55; MEOW:MGgn0043977 (37%) |species == chimp; score == 211; expect == 6.3e-55; MEOW:sp|P79243|FML2_PANTR (36%) |species == Human; gene == FPRL2; score == 209; expect == 1.9e-54; MEOW:HUgn0002359 (36%) |species == Mouse; gene == Fprl1; score == 207; expect == 7.0e-54; MEOW:MGgn0004416 (39%) |species == Human; gene == GPR1; score == 206; expect == 1.7e-53; MEOW:HUgn0002825 (39%) |species == Human; gene == FPR1; score == 203; expect == 1.3e-52; MEOW:HUgn0002357 (37%) |species == chimp; score == 202; expect == 2.9e-52; MEOW:sp|P79241|FMLR_PANTR (37%) |species == Mouse; gene == Fpr-rs2; score == 201; expect == 6.5e-52; MEOW:MGgn0004411 (39%) |species == Mouse; gene == Fpr-rs1; score == 200; expect == 1.1e-51; MEOW:MGgn0004410 (38%) |species == Mouse; gene == Fpr-rs6; score == 194; expect == 7.6e-50; MEOW:MGgn0043976 (36%) |species == Mouse; gene == Fpr-rs3; score == 191; expect == 3.8e-49; MEOW:MGgn0004412 (38%) |species == Mouse; gene == Fpr-rs4; score == 188; expect == 3.0e-48; MEOW:MGgn0004413 (37%) |species == Mouse; gene == Gpr44; score == 184; expect == 9.2e-47; MEOW:MGgn0004897 (36%) |species == Human; gene == GPR44; score == 181; expect == 7.5e-46; MEOW:HUgn0011251 (37%) } # EOR GENR { RETE|ID 1 HUgn0001241 CHR 1 14 DID 1 LocusLink:1241 MAP 1 14q11.2-q12 NAM 1 leukotriene B4 receptor ORG 1 Homo sapiens SYM 1 LTB4R ID|HUgn0001241 DID|LocusLink:1241 ORG|Homo sapiens RSQ|REFSEQ:NM_181657 RPA|REFPROT:NP_858043 DBA|XM:NM_181657 |NA:AA021034 |NA:AW242534 |NA:BC004545 |NA:BT007267 |NA:BU146237 |NA:D89078 |NA:D89079 |NA:U41070 |NA:X98356 |NA:none PAC|XP:NP_858043 SYM|LTB4R NAM|leukotriene B4 receptor SYN|BLTR |P2Y7 |GPR16 |LTBR1 |P2RY7 |CMKRL1 |LTB4R1 FNC|leukotriene B4 receptor |G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) ; GO:0007200 |muscle contraction ; GO:0006936 |immune response ; GO:0006955 |inflammatory response ; GO:0006954 CHR|14 PRD|chemokine receptor-like 1 |G protein-coupled receptor 16 |purinergic receptor P2Y, G-protein coupled, 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445013 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1241[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929191 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_181657 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_181657 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445013 DBL|UNIGENE:Hs.445013 |OMIM:601531 |SNP:1241 MAP|14q11.2-q12 ENZ|leukotriene receptor activity ; GO:0004974 |nucleotide binding ; GO:0000166 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 420; expect == 7e-118; MEOW:ref|NP_067688.1| (81%) |species == Mouse; gene == Ltb4r1; score == 411; expect == 4e-115; MEOW:MGgn0007188 (79%) |species == Human; gene == LTB4R2; score == 179; expect == 2.7e-45; MEOW:HUgn0056413 (44%) } # EOR GENR { RETE|ID 1 HUgn0001243 CHR 1 1 DID 1 LocusLink:1243 MAP 1 1p36 NAM 1 cutaneous malignant melanoma/dysplastic nevus ORG 1 Homo sapiens SYM 1 CMM ID|HUgn0001243 DID|LocusLink:1243 ORG|Homo sapiens SYM|CMM NAM|cutaneous malignant melanoma/dysplastic nevus SYN|DNS |MLM |CMM1 |FAMMM REAB|Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from |a pre-existing benign nevus, which occurs most often in the skin but also may involve |other sites.[supplied by OMIM] CHR|1 PRD|dysplastic nevus syndrome DBL|OMIM:155600 MAP|1p36 PHP|Malignant melanoma, cutaneous URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119059 |http://www.geneclinics.org/query?mim=155600 |http://www.ncbi.nlm.nih.gov/disease/Melanoma.html } # EOR GENR { RETE|ID 1 HUgn0001244 CHR 1 10 DID 1 LocusLink:1244 MAP 1 10q24 NAM 1 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ORG 1 Homo sapiens SYM 1 ABCC2 ID|HUgn0001244 DID|LocusLink:1244 ORG|Homo sapiens RSQ|REFSEQ:NM_000392 RPA|REFPROT:NP_000383 DBA|XM:NM_000392 |NA:U49248 |NA:U63970 |NA:X96395 |NA:none PAC|XP:NP_000383 SYM|ABCC2 NAM|ATP-binding cassette, sub-family C (CFTR/MRP), member 2 SYN|DJS |MRP2 |cMRP |ABC30 |CMOAT FNC|ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |transport ; GO:0006810 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which |is involved in multi-drug resistance. This protein is expressed in the canalicular |(apical) part of the hepatocyte and functions in biliary transport. Substrates include |anticancer drugs such as vinblastine; therefore, this protein appears to contribute |to drug resistance in mammalian cells. Several different mutations in this gene |have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive |disorder characterized by conjugated hyperbilirubinemia. CHR|10 PRD|canalicular multispecific organic anion transporter URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=193852 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1244[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6089489 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000392 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000392 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.191+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155+OR+mono_001.table.157 |http://www.geneclinics.org/query?mim=601107 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA116 |http://www.humanabc.org DBL|UNIGENE:Hs.193852 |OMIM:601107 |SNP:1244 MAP|10q24 PHP|Dubin-Johnson syndrome ENZ|nucleotide binding ; GO:0000166 |organic anion transporter activity ; GO:0008514 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abcc2; score == 2268; expect == 0.0; MEOW:MGgn0013326 (77%) |species == rat; score == 1322; expect == 0.0; MEOW:ref|NP_542148.1| (45%) |species == Human; gene == ABCC3; score == 1298; expect == 0.0; MEOW:HUgn0008714 (45%) |species == Fruitfly; gene == CG6214; score == 1283; expect == 0.0; MEOW:FBgn0032456 (45%) |species == Human; gene == ABCC1; score == 1275; expect == 0.0; MEOW:HUgn0004363 (47%) |species == Mosquito; score == 1201; expect == 0.0; MEOW:AGgn0027587 (44%) |species == Worm; gene == mrp-1; score == 1077; expect == 0.0; MEOW:CEgn0002051 (41%) |species == Worm; gene == mrp-2; score == 1069; expect == 0.0; MEOW:CEgn0002052 (42%) |species == Yeast; gene == YCF1; score == 986; expect == 0.0; MEOW:SGgn0002542 (37%) |species == Weed; gene == At1g30400; score == 880; expect == 0.0; MEOW:ATgn0006489 (38%) |species == Weed; gene == At2g34660; score == 834; expect == 0.0; MEOW:ATgn0028369 (39%) |species == rice; score == 829; expect == 0.0; MEOW:gnl|TIGR|8352.m04913 (39%) |species == Weed; gene == At1g30410; score == 825; expect == 0.0; MEOW:ATgn0006491 (38%) |species == Weed; gene == At2g47800; score == 813; expect == 0.0; MEOW:ATgn0007275 (36%) |species == Weed; gene == At3g62700; score == 813; expect == 0.0; MEOW:ATgn0015337 (36%) |species == Weed; gene == At1g30420; score == 805; expect == 0.0; MEOW:ATgn0006493 (36%) |species == Zfish; gene == abcc4; score == 788; expect == 0.0; MEOW:ZFgn0013883 (37%) |species == rice; score == 756; expect == 0.0; MEOW:gnl|TIGR|8360.m00387 (37%) |species == rice; score == 753; expect == 0.0; MEOW:gnl|TIGR|8354.m00541 (34%) |species == Weed; gene == At3g13080; score == 749; expect == 0.0; MEOW:ATgn0011647 (35%) |species == rice; score == 743; expect == 0.0; MEOW:gnl|TIGR|8352.m01119 (36%) |species == Weed; gene == At1g04120; score == 734; expect == 0.0; MEOW:ATgn0005402 (33%) |species == rice; score == 734; expect == 0.0; MEOW:gnl|TIGR|8358.m00476 (34%) |species == rice; score == 731; expect == 0.0; MEOW:gnl|TIGR|8350.m00691 (34%) |species == Weed; gene == At3g60160; score == 727; expect == 0.0; MEOW:ATgn0013159 (37%) |species == Weed; gene == At3g59140; score == 718; expect == 0.0; MEOW:ATgn0012279 (35%) |species == rice; score == 696; expect == 0.0; MEOW:gnl|TIGR|8352.m01118 (33%) |species == rice; score == 689; expect == 0.0; MEOW:gnl|TIGR|8350.m06371 (35%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8351.m01711 (35%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8353.m00862 (34%) |species == rice; score == 672; expect == 0.0; MEOW:gnl|TIGR|8359.m03564 (34%) |species == ecoli; score == 193; expect == 1.1e-49; MEOW:ref|NP_414983.1| (28%) |species == ecoli; score == 165; expect == 2.5e-41; MEOW:ref|NP_415434.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0001245 DID 1 LocusLink:1245 NAM 1 cardiomyopathy, restrictive 1A (autosomal dominant) ORG 1 Homo sapiens SYM 1 CMR1A ID|HUgn0001245 DID|LocusLink:1245 ORG|Homo sapiens SYM|CMR1A NAM|cardiomyopathy, restrictive 1A (autosomal dominant) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:701524 } # EOR GENR { RETE|ID 1 HUgn0001246 DID 1 LocusLink:1246 NAM 1 cardiomyopathy, restrictive 2A (autosomal recessive) ORG 1 Homo sapiens SYM 1 CMR2A ID|HUgn0001246 DID|LocusLink:1246 ORG|Homo sapiens SYM|CMR2A NAM|cardiomyopathy, restrictive 2A (autosomal recessive) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:701525 } # EOR GENR { RETE|ID 1 HUgn0001247 DID 1 LocusLink:1247 NAM 1 cardiomyopathy, restrictive 3A (X-linked) ORG 1 Homo sapiens SYM 1 CMR3A ID|HUgn0001247 DID|LocusLink:1247 ORG|Homo sapiens SYM|CMR3A NAM|cardiomyopathy, restrictive 3A (X-linked) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:701526 } # EOR GENR { RETE|ID 1 HUgn0001248 CHR 1 17 DID 1 LocusLink:1248 MAP 1 17p13.1-q12 NAM 1 Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) ORG 1 Homo sapiens SYM 1 CMT1A ID|HUgn0001248 DID|LocusLink:1248 ORG|Homo sapiens SYM|CMT1A NAM|Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) SYN|HMSNIA CHR|17 DBL|OMIM:118220 MAP|17p13.1-q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119785 |http://www.geneclinics.org/query?mim=118220 |http://www.ncbi.nlm.nih.gov/disease/Charcot.html } # EOR GENR { RETE|ID 1 HUgn0001250 CHR 1 3 DID 1 LocusLink:1250 MAP 1 3q13-q22 NAM 1 Charcot-Marie-Tooth neuropathy 2B ORG 1 Homo sapiens SYM 1 CMT2B ID|HUgn0001250 DID|LocusLink:1250 ORG|Homo sapiens SYM|CMT2B NAM|Charcot-Marie-Tooth neuropathy 2B SYN|PSN CHR|3 DBL|OMIM:600882 MAP|3q13-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:604021 |http://www.geneclinics.org/query?mim=600882 } # EOR GENR { RETE|ID 1 HUgn0001251 CHR 1 8 DID 1 LocusLink:1251 MAP 1 8q13-q21.1 NAM 1 Charcot-Marie-Tooth neuropathy 4A ORG 1 Homo sapiens SYM 1 CMT4A ID|HUgn0001251 DID|LocusLink:1251 ORG|Homo sapiens SYM|CMT4A NAM|Charcot-Marie-Tooth neuropathy 4A SYN|CMT4 CHR|8 PRD|Charcot-Marie-Tooth neuropathy-4A (autosomal recessive) DBL|OMIM:214400 MAP|8q13-q21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:138755 |http://www.geneclinics.org/query?mim=214400 } # EOR GENR { RETE|ID 1 HUgn0001253 CHR 1 X DID 1 LocusLink:1253 MAP 1 Xp22 NAM 1 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) ORG 1 Homo sapiens SYM 1 CMTX2 ID|HUgn0001253 DID|LocusLink:1253 ORG|Homo sapiens SYM|CMTX2 NAM|Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) CHR|X PRD|Charcot-Marie-Tooth disease, X-linked-2, recessive DBL|OMIM:302801 MAP|Xp22 PHP|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128311 } # EOR GENR { RETE|ID 1 HUgn0001254 CHR 1 X DID 1 LocusLink:1254 MAP 1 X NAM 1 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) ORG 1 Homo sapiens SYM 1 CMTX3 ID|HUgn0001254 DID|LocusLink:1254 ORG|Homo sapiens SYM|CMTX3 NAM|Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) CHR|X DBL|OMIM:302802 MAP|X PHP|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128151 } # EOR GENR { RETE|ID 1 HUgn0001255 CHR 1 12 DID 1 LocusLink:1255 MAP 1 12q NAM 1 cornea plana 1 (autosomal dominant) ORG 1 Homo sapiens SYM 1 CNA1 ID|HUgn0001255 DID|LocusLink:1255 ORG|Homo sapiens SYM|CNA1 NAM|cornea plana 1 (autosomal dominant) CHR|12 DBL|OMIM:121400 MAP|12q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:252119 } # EOR GENR { RETE|ID 1 HUgn0001257 CHR 1 2 DID 1 LocusLink:1257 MAP 1 2p16 NAM 1 Carney complex, multiple neoplasia and lentiginosis ORG 1 Homo sapiens SYM 1 CNC ID|HUgn0001257 DID|LocusLink:1257 ORG|Homo sapiens SYM|CNC NAM|Carney complex, multiple neoplasia and lentiginosis CHR|2 DBL|OMIM:160980 MAP|2p16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1313478 |http://www.geneclinics.org/query?mim=160980 } # EOR GENR { RETE|ID 1 HUgn0001258 CHR 1 16 DID 1 LocusLink:1258 MAP 1 16q13 NAM 1 cyclic nucleotide gated channel beta 1 ORG 1 Homo sapiens SYM 1 CNGB1 ID|HUgn0001258 DID|LocusLink:1258 ORG|Homo sapiens RSQ|REFSEQ:NM_001297 RPA|REFPROT:NP_001288 DBA|XM:NM_001297 |NA:AF042498 |NA:U18945 |NA:U58837 PAC|XP:NP_001288 SYM|CNGB1 NAM|cyclic nucleotide gated channel beta 1 SYN|GAR1 |GARP |CNCG2 |RCNC2 |RCNCb |CNCG3L |RCNCbeta FNC|cyclic nucleotide gated channel beta 1 |vision ; GO:0007601 |small molecule transport ; GO:0006832 CHR|16 PRD|cyclic nucleotide gated channel (photoreceptor), cGMP gated 3 (gamma)-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93909 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1258[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:434397 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001297 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001297 DBL|UNIGENE:Hs.93909 |OMIM:600724 |SNP:1258 MAP|16q13 PHP|Retinitis pigmentosa, autosomal recessive |Beta subunit of a cyclic nucleotide gated channel 1; has probable role in photoreception ENZ|ligand-gated ion channel activity ; GO:0015276 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1112; expect == 0.0; MEOW:ref|XP_346518.1| (85%) |species == Human; gene == CNGB3; score == 684; expect == 0.0; MEOW:HUgn0054714 (46%) |species == Mouse; gene == Cngb3; score == 609; expect == 1e-174; MEOW:MGgn0013641 (54%) |species == Mosquito; score == 433; expect == 2e-121; MEOW:AGgn0025541 (36%) |species == Fruitfly; gene == CG17922; score == 400; expect == 3e-111; MEOW:FBgn0034656 (37%) |species == Worm; gene == tax-4; score == 267; expect == 1.8e-71; MEOW:CEgn0002812 (34%) } # EOR GENR { RETE|ID 1 HUgn0001259 CHR 1 4 DID 1 LocusLink:1259 MAP 1 4p12-cen NAM 1 cyclic nucleotide gated channel alpha 1 ORG 1 Homo sapiens SYM 1 CNGA1 ID|HUgn0001259 DID|LocusLink:1259 ORG|Homo sapiens RSQ|REFSEQ:NM_000087 RPA|REFPROT:NP_000078 DBA|XM:NM_000087 |NA:M84741 |NA:S42457 |NA:none PAC|XP:NP_000078 SYM|CNGA1 NAM|cyclic nucleotide gated channel alpha 1 SYN|CNCG |CNG1 |CNCG1 |RCNC1 |RCNCa |RCNCalpha FNC|cyclic nucleotide gated channel alpha 1 |potassium ion transport ; GO:0006813 |ion transport ; GO:0006811 |vision ; GO:0007601 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1323 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1259[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127557 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000087 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000087 |http://www.geneclinics.org/query?mim=123825 |http://www.retina-international.com/sci-news/cnga1mut.htm DBL|UNIGENE:Hs.1323 |OMIM:123825 |SNP:1259 |UWCM:127557.html MAP|4p12-cen PHP|Retinitis pigmentosa, autosomal recessive ENZ|ligand-gated ion channel activity ; GO:0015276 |voltage-gated potassium channel activity ; GO:0005249 |3',5'-cGMP binding ; GO:0030553 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1102; expect == 0.0; MEOW:ref|NP_445949.1| (88%) |species == Human; gene == CNGA3; score == 808; expect == 0.0; MEOW:HUgn0001261 (75%) |species == Mouse; gene == Cnga3; score == 796; expect == 0.0; MEOW:MGgn0001496 (75%) |species == Mouse; gene == Cnga2; score == 783; expect == 0.0; MEOW:MGgn0001495 (72%) |species == Fruitfly; gene == Cng; score == 554; expect == 4e-158; MEOW:FBgn0014462 (54%) |species == Worm; gene == tax-4; score == 541; expect == 3e-154; MEOW:CEgn0002812 (51%) |species == Mosquito; gene == LOC15045; score == 438; expect == 3e-123; MEOW:AGgn0015045 (48%) |species == Mosquito; score == 382; expect == 5e-106; MEOW:AGgn0000954 (43%) } # EOR GENR { RETE|ID 1 HUgn0001260 CHR 1 X DID 1 LocusLink:1260 MAP 1 Xq27 NAM 1 cyclic nucleotide gated channel alpha 2 ORG 1 Homo sapiens SYM 1 CNGA2 ID|HUgn0001260 DID|LocusLink:1260 ORG|Homo sapiens DBA|NA:S76067 |NA:none SYM|CNGA2 NAM|cyclic nucleotide gated channel alpha 2 SYN|CNCA |CNG2 |CNCA1 |OCNC1 |OCNCa |OCNCALPHA |OCNCalpha CHR|X DBL|OMIM:300338 MAP|Xq27 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127558 ENZ|ion channel activity ; GO:0005216 |potassium channel activity ; GO:0005267 |3',5'-cAMP binding ; GO:0030552 |intracellular cAMP activated cation channel activity ; GO:0005222 FNC|olfaction ; GO:0007608 |potassium ion transport ; GO:0006813 |ion transport ; GO:0006811 CEL|intracellular cyclic nucleotide activated cation channel complex ; GO:0017071 HG|species == Mouse; gene == Cnga2; score == 520; expect == 1e-147; MEOW:MGgn0001495 (98%) |species == rat; score == 518; expect == 1e-147; MEOW:ref|NP_037060.1| (98%) |species == rat; score == 456; expect == 8e-129; MEOW:ref|NP_445947.1| (84%) |species == Human; gene == CNGA3; score == 453; expect == 5e-128; MEOW:HUgn0001261 (84%) |species == Mouse; gene == Cnga3; score == 451; expect == 1e-127; MEOW:MGgn0001496 (83%) |species == Human; gene == CNGA1; score == 448; expect == 1e-126; MEOW:HUgn0001259 (82%) |species == rat; score == 446; expect == 8e-126; MEOW:ref|NP_445949.1| (81%) |species == Mosquito; gene == LOC19600; score == 359; expect == 5e-100; MEOW:AGgn0019600 (66%) |species == Fruitfly; gene == Cng; score == 354; expect == 1.8e-98; MEOW:FBgn0014462 (66%) |species == Worm; gene == tax-4; score == 342; expect == 6.4e-95; MEOW:CEgn0002812 (63%) |species == Fruitfly; gene == CG3536; score == 292; expect == 6.4e-80; MEOW:FBgn0034775 (55%) |species == Mosquito; gene == LOC15045; score == 291; expect == 1.4e-79; MEOW:AGgn0015045 (55%) } # EOR GENR { RETE|ID 1 HUgn0001261 CHR 1 2 DID 1 LocusLink:1261 MAP 1 2q11.2 NAM 1 cyclic nucleotide gated channel alpha 3 ORG 1 Homo sapiens SYM 1 CNGA3 ID|HUgn0001261 DID|LocusLink:1261 ORG|Homo sapiens RSQ|REFSEQ:NM_001298 RPA|REFPROT:NP_001289 DBA|XM:NM_001298 |NA:S76069 |NA:AF065314 |NA:none PAC|XP:NP_001289 SYM|CNGA3 NAM|cyclic nucleotide gated channel alpha 3 SYN|CNG3 |ACHM2 |CCNC1 |CCNCa |CNCG3 |CCNCalpha FNC|cyclic nucleotide gated channel alpha 3 |potassium ion transport ; GO:0006813 |ion transport ; GO:0006811 |vision ; GO:0007601 |signal transduction ; GO:0007165 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=234785 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1261[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:434398 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001298 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001298 |http://www.geneclinics.org/query?mim=600053 |http://www.retina-international.com/sci-news/cnga3mut.htm DBL|UNIGENE:Hs.234785 |OMIM:600053 |SNP:1261 MAP|2q11.2 PHP|Achromatopsia-2 ENZ|ligand-gated ion channel activity ; GO:0015276 |potassium channel activity ; GO:0005267 |3',5'-cAMP binding ; GO:0030552 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cnga3; score == 991; expect == 0.0; MEOW:MGgn0001496 (75%) |species == rat; score == 939; expect == 0.0; MEOW:ref|NP_445947.1| (82%) |species == rat; score == 814; expect == 0.0; MEOW:ref|NP_037060.1| (62%) |species == Human; gene == CNGA1; score == 808; expect == 0.0; MEOW:HUgn0001259 (75%) |species == rat; score == 802; expect == 0.0; MEOW:ref|NP_445949.1| (75%) |species == Mouse; gene == Cnga2; score == 801; expect == 0.0; MEOW:MGgn0001495 (61%) |species == Fruitfly; gene == Cng; score == 525; expect == 3e-149; MEOW:FBgn0014462 (57%) |species == Worm; gene == tax-4; score == 496; expect == 1e-140; MEOW:CEgn0002812 (49%) |species == Mosquito; gene == LOC15045; score == 457; expect == 1e-128; MEOW:AGgn0015045 (50%) |species == Fruitfly; gene == CG3536; score == 445; expect == 7e-125; MEOW:FBgn0034775 (50%) |species == Mosquito; score == 389; expect == 4e-108; MEOW:AGgn0000954 (45%) } # EOR GENR { RETE|ID 1 HUgn0001262 CHR 1 11 DID 1 LocusLink:1262 MAP 1 11p15.4 NAM 1 cyclic nucleotide gated channel alpha 4 ORG 1 Homo sapiens SYM 1 CNGA4 ID|HUgn0001262 DID|LocusLink:1262 ORG|Homo sapiens DBA|XM:XM_290552 |NA:BC040277 PAC|XP:XP_290552 SYM|CNGA4 NAM|cyclic nucleotide gated channel alpha 4 SYN|CNG5 |CNCA2 |CNGB2 |OCNC2 |OCNCb |OCNCBETA |OCNCbeta CHR|11 PRD|cyclic nucleotide gated channel beta 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434618 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1262[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:434396 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC040277 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC040277 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434618 DBL|UNIGENE:Hs.434618 |SNP:1262 MAP|11p15.4 HG|species == rat; score == 755; expect == 0.0; MEOW:ref|XP_346556.1| (94%) |species == Mouse; gene == Cnga2; score == 497; expect == 1e-140; MEOW:MGgn0001495 (57%) |species == Human; gene == CNGA1; score == 473; expect == 2e-133; MEOW:HUgn0001259 (56%) |species == Mouse; gene == Cnga3; score == 468; expect == 3e-132; MEOW:MGgn0001496 (54%) |species == Human; gene == CNGA3; score == 463; expect == 1e-130; MEOW:HUgn0001261 (56%) |species == Fruitfly; gene == Cng; score == 364; expect == 4e-101; MEOW:FBgn0014462 (48%) |species == Mosquito; gene == LOC15045; score == 321; expect == 9.5e-88; MEOW:AGgn0015045 (41%) |species == Fruitfly; gene == CG3536; score == 320; expect == 2.4e-87; MEOW:FBgn0034775 (40%) |species == Worm; gene == tax-4; score == 312; expect == 1.7e-85; MEOW:CEgn0002812 (38%) |species == Mosquito; score == 274; expect == 1.5e-73; MEOW:AGgn0000954 (38%) } # EOR GENR { RETE|ID 1 HUgn0001263 CHR 1 1 DID 1 LocusLink:1263 MAP 1 1p34.1 NAM 1 cytokine-inducible kinase ORG 1 Homo sapiens SYM 1 CNK ID|HUgn0001263 DID|LocusLink:1263 ORG|Homo sapiens RSQ|REFSEQ:NM_004073 RPA|REFPROT:NP_004064 DBA|XM:NM_004073 |NA:AJ293866 |NA:BC004135 |NA:BC004198 |NA:BC013899 |NA:BC013960 |NA:U56998 |NA:none PAC|XP:NP_004064 SYM|CNK NAM|cytokine-inducible kinase SYN|FNK |PRK |PLK3 FNC|cytokine-inducible kinase REAB|Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both |a catalytic domain and a putative regulatory domain. It may play a role in regulation |of cell cycle progression and tumorigenesis. CHR|1 PRD|polo-like kinase 3 |proliferation-related kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153640 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1263[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6268332 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004073 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004073 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=153640 DBL|UNIGENE:Hs.153640 |OMIM:602913 |SNP:1263 MAP|1p34.1 HG|species == rat; score == 1110; expect == 0.0; MEOW:ref|XP_342889.1| (95%) |species == Mouse; gene == Cnk; score == 881; expect == 0.0; MEOW:MGgn0001501 (93%) |species == Human; gene == SNK; score == 597; expect == 6e-171; MEOW:HUgn0010769 (51%) |species == Worm; gene == plk-1; score == 395; expect == 5e-110; MEOW:CEgn0002380 (36%) |species == Mosquito; score == 394; expect == 1e-109; MEOW:AGgn0013443 (37%) |species == Fruitfly; gene == polo; score == 377; expect == 9e-105; MEOW:FBgn0003124 (37%) |species == Yeast; gene == CDC5; score == 298; expect == 2.2e-81; MEOW:SGgn0004603 (32%) |species == Weed; gene == At4g24400; score == 177; expect == 1.5e-44; MEOW:ATgn0019018 (37%) |species == rice; score == 177; expect == 4.4e-44; MEOW:gnl|TIGR|8350.m05169 (34%) |species == Weed; gene == At2g38490; score == 173; expect == 2.2e-43; MEOW:ATgn0009030 (38%) |species == Weed; gene == At5g45820; score == 173; expect == 2.2e-43; MEOW:ATgn0025161 (38%) |species == rice; score == 172; expect == 8.3e-43; MEOW:gnl|TIGR|8360.m01877 (37%) |species == Weed; gene == At4g30960; score == 169; expect == 5.5e-42; MEOW:ATgn0018594 (37%) |species == Weed; gene == At5g39440; score == 169; expect == 3.2e-42; MEOW:ATgn0025605 (33%) |species == rice; score == 169; expect == 9.2e-42; MEOW:gnl|TIGR|8355.m00462 (34%) |species == rice; score == 169; expect == 1.2e-41; MEOW:gnl|TIGR|8358.m00297 (31%) |species == rice; score == 168; expect == 2.0e-41; MEOW:gnl|TIGR|8350.m05170 (36%) |species == rice; score == 168; expect == 2.0e-41; MEOW:gnl|TIGR|8353.m03525 (37%) |species == Weed; gene == At1g01140; score == 167; expect == 1.6e-41; MEOW:ATgn0002263 (36%) |species == Weed; gene == At1g30270; score == 167; expect == 2.1e-41; MEOW:ATgn0006439 (35%) |species == Weed; gene == At3g01090; score == 167; expect == 2.1e-41; MEOW:ATgn0011938 (36%) |species == rice; score == 167; expect == 4.6e-41; MEOW:gnl|TIGR|8350.m00993 (35%) |species == rice; score == 167; expect == 4.6e-41; MEOW:gnl|TIGR|8355.m04604 (36%) |species == Weed; gene == At3g29160; score == 166; expect == 3.5e-41; MEOW:ATgn0015422 (31%) |species == Weed; gene == At5g35410; score == 165; expect == 7.9e-41; MEOW:ATgn0021630 (35%) |species == rice; score == 165; expect == 1.3e-40; MEOW:gnl|TIGR|8353.m04039 (31%) |species == rice; score == 165; expect == 1.3e-40; MEOW:gnl|TIGR|8355.m04669 (36%) |species == Zfish; gene == stka; score == 154; expect == 7.1e-39; MEOW:ZFgn0002572 (32%) |species == chimp; score == 137; expect == 3.1e-34; MEOW:sp|BAC81132|BAC81132 (30%) } # EOR GENR { RETE|ID 1 HUgn0001264 CHR 1 19 DID 1 LocusLink:1264 MAP 1 19p13.2-p13.1 NAM 1 calponin 1, basic, smooth muscle ORG 1 Homo sapiens SYM 1 CNN1 ID|HUgn0001264 DID|LocusLink:1264 ORG|Homo sapiens RSQ|REFSEQ:NM_001299 RPA|REFPROT:NP_001290 DBA|XM:NM_001299 |NA:BC022015 |NA:BC036307 |NA:D17408 |NA:S80560 |NA:U37019 |NA:none PAC|XP:NP_001290 SYM|CNN1 NAM|calponin 1, basic, smooth muscle SYN|SMCC |Sm-Calp FNC|calponin 1, basic, smooth muscle |smooth muscle contraction ; GO:0006939 CHR|19 PRD|Calponin 1 |calponins, basic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=21223 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1264[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1313703 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001299 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001299 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=21223 DBL|UNIGENE:Hs.21223 |OMIM:600806 |SNP:1264 MAP|19p13.2-p13.1 ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 CEL|cytoskeleton ; GO:0005856 HG|species == rat; score == 548; expect == 1e-156; MEOW:ref|NP_113935.1| (97%) |species == Mouse; gene == Cnn1; score == 547; expect == 3e-156; MEOW:MGgn0001503 (97%) |species == Human; gene == CNN3; score == 414; expect == 4e-116; MEOW:HUgn0001266 (72%) |species == Human; gene == CNN2; score == 364; expect == 5e-101; MEOW:HUgn0001265 (65%) |species == Fruitfly; gene == Chd64; score == 133; expect == 4.9e-32; MEOW:FBgn0035499 (40%) |species == Mosquito; score == 131; expect == 2.4e-31; MEOW:AGgn0020389 (37%) } # EOR GENR { RETE|ID 1 HUgn0001265 CHR 1 21 DID 1 LocusLink:1265 MAP 1 21q11.1 NAM 1 calponin 2 ORG 1 Homo sapiens SYM 1 CNN2 ID|HUgn0001265 DID|LocusLink:1265 ORG|Homo sapiens RSQ|REFSEQ:NM_004368 RPA|REFPROT:NP_004359 DBA|XM:NM_004368 |NA:AK024835 |NA:AK057960 |NA:AK093630 |NA:AK126391 |NA:D83735 |NA:none PAC|XP:NP_004359 SYM|CNN2 NAM|calponin 2 FNC|calponin 2 |cytoskeleton organization and biogenesis ; GO:0007010 |smooth muscle contraction ; GO:0006939 CHR|21 PRD|Calonin 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169718 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1265[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3789433 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004368 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004368 DBL|UNIGENE:Hs.169718 |OMIM:602373 |SNP:1265 MAP|21q11.1 ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 HG|species == Mouse; gene == Cnn2; score == 577; expect == 1e-165; MEOW:MGgn0001504 (97%) |species == Human; gene == LOC339897; score == 495; expect == 2e-140; MEOW:HUgn0339897 (81%) |species == Human; gene == LOC283172; score == 454; expect == 3e-128; MEOW:HUgn0283172 (80%) |species == Human; gene == LOC205272; score == 412; expect == 2e-115; MEOW:HUgn0205272 (74%) |species == Human; gene == CNN3; score == 396; expect == 7e-111; MEOW:HUgn0001266 (65%) |species == rat; score == 393; expect == 8e-110; MEOW:ref|XP_346636.1| (64%) |species == rat; score == 363; expect == 6e-101; MEOW:ref|NP_113935.1| (65%) |species == Mosquito; score == 130; expect == 5.4e-31; MEOW:AGgn0020389 (38%) } # EOR GENR { RETE|ID 1 HUgn0001266 CHR 1 1 DID 1 LocusLink:1266 MAP 1 1p22-p21 NAM 1 calponin 3, acidic ORG 1 Homo sapiens SYM 1 CNN3 ID|HUgn0001266 DID|LocusLink:1266 ORG|Homo sapiens RSQ|REFSEQ:NM_001839 RPA|REFPROT:NP_001830 DBA|XM:NM_001839 |NA:BC025372 |NA:S80562 |NA:none PAC|XP:NP_001830 SYM|CNN3 NAM|calponin 3, acidic FNC|calponin 3 |smooth muscle contraction ; GO:0006939 REAB|CNN3 contains a markedly acidic C terminus; the basic N terminus is highly homologous |to the CNN1 N terminus. CNN1, CNN2, and CNN3 all contain similar tandemly repeated |motifs. CNN3 is associated with the cytoskeleton but is not involved in contraction. CHR|1 PRD|calponin, acidic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194662 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1266[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1313706 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001839 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001839 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=194662 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26667 DBL|UNIGENE:Hs.194662 |OMIM:602374 |SNP:1266 MAP|1p22-p21 ENZ|tropomyosin binding ; GO:0005523 |actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 |troponin C binding ; GO:0030172 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Cnn3; score == 656; expect == 0.0; MEOW:MGgn0016979 (97%) |species == rat; score == 653; expect == 0.0; MEOW:ref|XP_346636.1| (97%) |species == Human; gene == CNN1; score == 414; expect == 4e-116; MEOW:HUgn0001264 (72%) |species == Human; gene == CNN2; score == 396; expect == 7e-111; MEOW:HUgn0001265 (65%) |species == Mosquito; score == 132; expect == 1.4e-31; MEOW:AGgn0020389 (38%) } # EOR GENR { RETE|ID 1 HUgn0001267 CHR 1 17 DID 1 LocusLink:1267 MAP 1 17q21 NAM 1 2',3'-cyclic nucleotide 3' phosphodiesterase ORG 1 Homo sapiens SYM 1 CNP ID|HUgn0001267 DID|LocusLink:1267 ORG|Homo sapiens RSQ|REFSEQ:NM_033133 RPA|REFPROT:NP_149124 DBA|XM:NM_033133 |NA:D13144 |NA:D13145 |NA:D13146 |NA:S46843 |NA:S46849 |NA:S50013 |NA:S50017 |NA:AK026876 |NA:AK097833 |NA:AK098384 |NA:BC001362 |NA:BC006392 |NA:BC011046 |NA:BC028040 |NA:BC045561 |NA:M19650 |NA:none PAC|XP:NP_149124 SYM|CNP NAM|2',3'-cyclic nucleotide 3' phosphodiesterase SYN|CNP1 FNC|2',3'-cyclic nucleotide 3' phosphodiesterase |synaptic transmission ; GO:0007268 CHR|17 PRD|2', 3' cyclic nucleotide 3' phosphohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443836 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1267[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128029 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033133 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033133 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443836 DBL|UNIGENE:Hs.443836 |OMIM:123830 |SNP:1267 ENZ|EC:3.1.4.37 |2',3'-cyclic-nucleotide 3'-phosphodiesterase activity ; GO:0004113 |hydrolase activity ; GO:0016787 MAP|17q21 CEL|membrane ; GO:0016020 HG|species == rat; score == 743; expect == 0.0; MEOW:ref|XP_340905.1| (86%) |species == Mouse; gene == Cnp1; score == 732; expect == 0.0; MEOW:MGgn0001505 (84%) } # EOR GENR { RETE|ID 1 HUgn0001268 CHR 1 6 DID 1 LocusLink:1268 MAP 1 6q14-q15 NAM 1 cannabinoid receptor 1 (brain) ORG 1 Homo sapiens SYM 1 CNR1 ID|HUgn0001268 DID|LocusLink:1268 ORG|Homo sapiens RSQ|REFSEQ:NM_001840 |REFSEQ:NM_016083 |REFSEQ:NM_033181 RPA|REFPROT:NP_001831 |REFPROT:NP_057167 |REFPROT:NP_149421 DBA|XM:NM_001840 |XM:NM_016083 |XM:NM_033181 |NA:AL136096 |NA:U73304 |NA:AF107262 |NA:X54937 |NA:X81120 |NA:X81121 |NA:none PAC|XP:NP_001831 |XP:NP_057167 |XP:NP_149421 SYM|CNR1 NAM|cannabinoid receptor 1 (brain) SYN|CB1 |CNR |CB-R |CB1A |CANN6 |CB1K5 FNC|central cannabinoid receptor isoform a |central cannabinoid receptor isoform b |G-protein signaling, coupled to cyclic nucleotide second messenger ; GO:0007187 |behavior ; GO:0007610 REAB|This gene encodes a protein that is one of two cannabinoid receptors. The cannabinoids, |principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive |ingredients of marijuana. These cannabinoid receptors are family 1 members of the |guanine-nucleotide-binding protein (G-protein) coupled receptors which inhibit adenylate |cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive |manner. The two receptors have been found to be involved in the cannabinoid-induced |CNS effects (including alterations in mood and cognition) experienced by users of |marijuana. Three splice variants have been found for this gene. CHR|6 PRD|central cannabinoid receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75110 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1268[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016083 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016083 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26681 DBL|UNIGENE:Hs.75110 |OMIM:114610 |SNP:1268 MAP|6q14-q15 ENZ|cannabinoid receptor activity ; GO:0004949 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 893; expect == 0.0; MEOW:ref|NP_036916.1| (97%) |species == Mouse; gene == Cnr1; score == 892; expect == 0.0; MEOW:MGgn0001507 (97%) |species == Human; gene == CNR2; score == 277; expect == 5.7e-75; MEOW:HUgn0001269 (47%) } # EOR GENR { RETE|ID 1 HUgn0001269 CHR 1 1 DID 1 LocusLink:1269 MAP 1 1p36.11 NAM 1 cannabinoid receptor 2 (macrophage) ORG 1 Homo sapiens SYM 1 CNR2 ID|HUgn0001269 DID|LocusLink:1269 ORG|Homo sapiens RSQ|REFSEQ:NM_001841 RPA|REFPROT:NP_001832 DBA|XM:NM_001841 |NA:AJ430063 |NA:X74328 |NA:none PAC|XP:NP_001832 SYM|CNR2 NAM|cannabinoid receptor 2 (macrophage) SYN|CB2 |CX5 FNC|cannabinoid receptor 2 (macrophage) |G-protein signaling, coupled to cyclic nucleotide second messenger ; GO:0007187 |behavior ; GO:0007610 |immune response ; GO:0006955 REAB|The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient |of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) |(CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled |receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, |stereoselective, and pertussis toxin-sensitive manner. These proteins have been |found to be involved in the cannabinoid-induced CNS effects (including alterations |in mood and cognition) experienced by users of marijuana. The cannabinoid receptors |are members of family 1 of the G-protein-coupled receptors. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73037 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1269[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228958 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001841 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001841 DBL|UNIGENE:Hs.73037 |OMIM:605051 |SNP:1269 MAP|1p36.11 ENZ|cannabinoid receptor activity ; GO:0004949 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 585; expect == 1e-167; MEOW:ref|NP_065418.2| (83%) |species == Mouse; gene == Cnr2; score == 583; expect == 4e-167; MEOW:MGgn0001508 (82%) |species == Human; gene == CNR1; score == 277; expect == 5.7e-75; MEOW:HUgn0001268 (47%) } # EOR GENR { RETE|ID 1 HUgn0001270 CHR 1 11 DID 1 LocusLink:1270 MAP 1 11q12.2 NAM 1 ciliary neurotrophic factor ORG 1 Homo sapiens SYM 1 CNTF ID|HUgn0001270 DID|LocusLink:1270 ORG|Homo sapiens RSQ|REFSEQ:NM_000614 RPA|REFPROT:NP_000605 DBA|XM:NM_000614 |NA:AP003557 |NA:X55889 |NA:X55890 |NA:X60477 |NA:X60478 |NA:X60542 |NA:S72921 |NA:none PAC|XP:NP_000605 SYM|CNTF NAM|ciliary neurotrophic factor SYN|HCNTF FNC|ciliary neurotrophic factor |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 |growth ; GO:0040007 REAB|The protein encoded by this gene is a polypeptide hormone whose actions appear to |be restricted to the nervous system where it promotes neurotransmitter synthesis |and neurite outgrowth in certain neuronal populations. The protein is a potent survival |factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction |during inflammatory attacks. A mutation in this gene, which results in aberrant |splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is |not causally related to neurologic disease. In addition to the predominant monocistronic |transcript originating from this locus, the gene is also co-transcribed with the |upstream ZFP91 gene. Co-transcription from the two loci results in a transcript |that contains a complete coding region for the zinc finger protein but lacks a complete |coding region for ciliary neurotrophic factor. CHR|11 DBL|OMIM:118945 |SNP:1270 |UWCM:125919.html MAP|11q12.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125919 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000614 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000614 ENZ|ciliary neurotrophic factor receptor binding ; GO:0005127 |growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 |cytoplasm ; GO:0005737 HG|species == rat; score == 342; expect == 6.0e-95; MEOW:ref|NP_037298.1| (84%) |species == Mouse; gene == Cntf; score == 332; expect == 1.0e-91; MEOW:MGgn0001509 (83%) } # EOR GENR { RETE|ID 1 HUgn0001271 CHR 1 9 DID 1 LocusLink:1271 MAP 1 9p13 NAM 1 ciliary neurotrophic factor receptor ORG 1 Homo sapiens SYM 1 CNTFR ID|HUgn0001271 DID|LocusLink:1271 ORG|Homo sapiens RSQ|REFSEQ:NM_001842 |REFSEQ:NM_147164 RPA|REFPROT:NP_001833 |REFPROT:NP_671693 DBA|XM:NM_001842 |XM:NM_147164 |NA:L38020 |NA:L38021 |NA:L38022 |NA:L38023 |NA:L38024 |NA:L38025 |NA:AK127444 |NA:BC001492 |NA:BI545014 |NA:M73238 |NA:none PAC|XP:NP_001833 |XP:NP_671693 SYM|CNTFR NAM|ciliary neurotrophic factor receptor SYN|MGC1774 FNC|ciliary neurotrophic factor receptor preproprotein |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 REAB|This gene encodes a hematopoeitin/interferon-class receptor belonging to the cytokine |superfamily of receptors. The encoded gene product represents the CNTF-specific |alpha subunit of a heterotrimer forming the CNTF receptor complex, which also includes |LIFR and gp130. The receptor is attached to the membrane by a glycosyl-phosphatidylinositol |linkage and contains an immunoglobulin-like C2-type domain and a fibronectin type-III |domain. Signal transduction requires that CNTF bind first to this alpha component, |which permits the recruitment of gp130 and LIFR beta to form the tripartite receptor |complex. Signal transduction stimulates gene expression, cell survival or differentiation |in a variety of neuronal cell types. Alternative splicing has been observed at this |locus and two variants, both encoding the same protein, have been identified. CHR|9 PRD|CNTFR alpha |ciliary neurotrophic factor receptor alpha precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194774 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1271[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134652 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_147164 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_147164 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=194774 DBL|UNIGENE:Hs.194774 |OMIM:118946 |SNP:1271 MAP|9p13 ENZ|ciliary neurotrophic factor receptor activity ; GO:0004897 |GPI-anchored membrane-bound receptor ; GO:0015025 |receptor activity ; GO:0004872 CEL|membrane ; GO:0016020 HG|species == Mouse; gene == Cntfr; score == 652; expect == 0.0; MEOW:MGgn0001510 (95%) |species == rat; score == 649; expect == 0.0; MEOW:ref|XP_242848.2| (95%) |species == Zfish; gene == cntfr; score == 305; expect == 1.2e-83; MEOW:ZFgn0013938 (64%) |species == Human; gene == IL11RA; score == 135; expect == 3.6e-32; MEOW:HUgn0003590 (33%) } # EOR GENR { RETE|ID 1 HUgn0001272 CHR 1 12 DID 1 LocusLink:1272 MAP 1 12q11-q12 NAM 1 contactin 1 ORG 1 Homo sapiens SYM 1 CNTN1 ID|HUgn0001272 DID|LocusLink:1272 ORG|Homo sapiens RSQ|REFSEQ:NM_001843 |REFSEQ:NM_175038 RPA|REFPROT:NP_001834 |REFPROT:NP_778203 DBA|XM:NM_001843 |XM:NM_175038 |NA:BC036569 |NA:U07819 |NA:U07820 |NA:Z21488 |NA:none PAC|XP:NP_001834 |XP:NP_778203 SYM|CNTN1 NAM|contactin 1 SYN|F3 |GP135 FNC|contactin 1 isoform 1 precursor |contactin 1 isoform 2 precursor REAB|The protein encoded by this gene is a member of the immunoglobulin superfamily. It |is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that |functions as a cell adhesion molecule. It may play a role in the formation of axon |connections in the developing nervous system. Two alternatively spliced transcript |variants encoding different isoforms have been described for this gene. CHR|12 PRD|glycoprotein gP135 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=143434 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1272[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:287483 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001843 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001843 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=143434 DBL|UNIGENE:Hs.143434 |OMIM:600016 |SNP:1272 MAP|12q11-q12 HG|species == rat; score == 1931; expect == 0.0; MEOW:ref|NP_476459.1| (96%) |species == Mouse; gene == Cntn1; score == 1930; expect == 0.0; MEOW:MGgn0001511 (95%) |species == Human; gene == CNTN2; score == 951; expect == 0.0; MEOW:HUgn0006900 (50%) |species == Zfish; gene == cntn2; score == 940; expect == 0.0; MEOW:ZFgn0000563 (49%) |species == Human; gene == CNTN5; score == 869; expect == 0.0; MEOW:HUgn0053942 (46%) |species == Human; gene == CNTN4; score == 850; expect == 0.0; MEOW:HUgn0152330 (45%) |species == Human; gene == CNTN6; score == 795; expect == 0.0; MEOW:HUgn0027255 (43%) |species == Human; gene == CNTN3; score == 762; expect == 0.0; MEOW:HUgn0005067 (45%) |species == Fruitfly; gene == Cont; score == 450; expect == 2e-126; MEOW:FBgn0037240 (31%) |species == Mosquito; score == 436; expect == 4e-122; MEOW:AGgn0020451 (30%) |species == Mosquito; score == 436; expect == 4e-122; MEOW:AGgn0028598 (30%) |species == chimp; score == 330; expect == 4.1e-90; MEOW:sp|BAC81123|BAC81123 (29%) |species == Worm; gene == Y54G2A.25a; score == 261; expect == 1.3e-69; MEOW:CEgn0034344 (25%) |species == Worm; gene == C33F10.5b; score == 242; expect == 1.1e-63; MEOW:CEgn0021668 (23%) } # EOR GENR { RETE|ID 1 HUgn0001275 CHR 1 X DID 1 LocusLink:1275 MAP 1 Xq27 NAM 1 cone dystrophy 2 (X-linked) ORG 1 Homo sapiens SYM 1 COD2 ID|HUgn0001275 DID|LocusLink:1275 ORG|Homo sapiens SYM|COD2 NAM|cone dystrophy 2 (X-linked) CHR|X DBL|OMIM:300085 MAP|Xq27 PHP|Cone dystrophy, progressive X-linked, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6520166 } # EOR GENR { RETE|ID 1 HUgn0001277 CHR 1 17 DID 1 LocusLink:1277 MAP 1 17q21.3-q22.1 NAM 1 collagen, type I, alpha 1 ORG 1 Homo sapiens SYM 1 COL1A1 ID|HUgn0001277 DID|LocusLink:1277 ORG|Homo sapiens RSQ|REFSEQ:NM_000088 RPA|REFPROT:NP_000079 DBA|XM:NM_000088 |NA:AF017178 |NA:K03179 |NA:M11162 |NA:M20789 |NA:M55998 |NA:X00820 |NA:BC036531 |NA:J00110 |NA:J00112 |NA:K01228 |NA:M32798 |NA:M36546 |NA:X06269 |NA:X07884 |NA:Z74615 |NA:none PAC|XP:NP_000079 SYM|COL1A1 NAM|collagen, type I, alpha 1 SYN|OI4 FNC|alpha 1 type I collagen preproprotein |epidermal differentiation ; GO:0008544 |skeletal development ; GO:0001501 REAB|This gene encodes the major component of type I collagen, the fibrillar collagen |found in most connective tissues, and the only component of the collagen found in |cartilage. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos |syndrome, and idiopathic osteoporosis. Reciprocal translocations between chromosomes |17 and 22, where this gene and the gene for platelet-derived growth factor beta |are located, are associated with a particular type of skin tumor called dermatofibrosarcoma |protuberans, resulting from unregulated expression of the growth factor. Two transcripts, |resulting from the use of alternate polyadenylation signals, have been identified |for this gene. CHR|17 PRD|Collagen I, alpha-1 polypeptide |osteogenesis imperfecta type IV |collagen of skin, tendon and bone, alpha-1 chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172928 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1277[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119061 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000088 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000088 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172928 |http://www.geneclinics.org/query?mim=120150 |http://www.le.ac.uk/genetics/collagen/collagen.html DBL|UNIGENE:Hs.172928 |OMIM:120150 |SNP:1277 MAP|17q21.3-q22.1 PHP|Dissection of cervical arteries |Ehlers-Danlos syndrome, type I |Ehlers-Danlos syndrome, type VII |Osteogenesis imperfecta, type I |Osteogenesis imperfecta, type II |Osteogenesis imperfecta, type III |Osteogenesis imperfecta, type IV |Osteoporosis, idiopathic ENZ|structural constituent of bone ; GO:0008147 |extracellular matrix structural constituent ; GO:0005201 CEL|collagen type I ; GO:0005584 |collagen ; GO:0005581 HG|species == rat; score == 505; expect == 9e-143; MEOW:ref|XP_213440.1| (90%) |species == Mouse; gene == Col1a1; score == 504; expect == 1e-142; MEOW:MGgn0001548 (90%) |species == Human; gene == COL24A1; score == 455; expect == 1e-127; MEOW:HUgn0255631 (33%) |species == Mouse; gene == Col1a2; score == 443; expect == 5e-124; MEOW:MGgn0001549 (59%) |species == rat; score == 426; expect == 5e-119; MEOW:ref|NP_445808.1| (58%) |species == Mouse; gene == Col5a2; score == 412; expect == 6e-115; MEOW:MGgn0001538 (62%) |species == Mosquito; gene == LOC16652; score == 402; expect == 9e-112; MEOW:AGgn0016652 (40%) |species == Human; gene == COL1A2; score == 384; expect == 2e-106; MEOW:HUgn0001278 (58%) |species == Human; gene == COL2A1; score == 379; expect == 9e-105; MEOW:HUgn0001280 (66%) |species == Zfish; gene == col2a1; score == 377; expect == 7e-105; MEOW:ZFgn0000041 (66%) |species == Mosquito; score == 371; expect == 9e-103; MEOW:AGgn0016783 (40%) |species == Worm; gene == mec-5; score == 137; expect == 1.0e-32; MEOW:CEgn0001935 (47%) } # EOR GENR { RETE|ID 1 HUgn0001278 CHR 1 7 DID 1 LocusLink:1278 MAP 1 7q22.1 NAM 1 collagen, type I, alpha 2 ORG 1 Homo sapiens SYM 1 COL1A2 ID|HUgn0001278 DID|LocusLink:1278 ORG|Homo sapiens RSQ|REFSEQ:NM_000089 RPA|REFPROT:NP_000080 DBA|XM:NM_000089 |XM:NM_000089 |NA:AB004317 |NA:AC002528 |NA:AF004877 |NA:K01078 |NA:K02568 |NA:M21353 |NA:M21671 |NA:M28985 |NA:M35391 |NA:M64229 |NA:S98904 |NA:BC054498 |NA:J00114 |NA:J03464 |NA:M22816 |NA:V00503 |NA:X02488 |NA:X55525 |NA:Y00724 |NA:Z74616 |NA:none PAC|XP:NP_000080 |XP:NP_000080 SYM|COL1A2 NAM|collagen, type I, alpha 2 SYN|OI4 FNC|alpha 2 type I collagen REAB|This gene encodes one of the chains for type I collagen, the fibrillar collagen found |in most connective tissues. Mutations in this gene are associated with osteogenesis |imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan |syndrome. Symptoms associated with mutations in this gene, however, tend to be less |severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less |abundant. Multiple messages for this gene result from multiple polyadenylation signals, |a feature shared by most of the other collagen genes. CHR|7 PRD|Collagen I, alpha-2 polypeptide |Collagen of skin, tendon and bone, alpha-2 chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=232115 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1278[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119062 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000089 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000089 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=232115 |http://www.geneclinics.org/query?mim=120160 |http://www.le.ac.uk/genetics/collagen/collagen.html DBL|UNIGENE:Hs.232115 |OMIM:120160 |SNP:1278 MAP|7q22.1 PHP|Ehlers-Danlos syndrome, type VIIA2 |Marfan syndrome, atypical |Osteogenesis imperfecta, 3 clinical forms, 166200, 166210 |Osteoporosis, idiopathic HG|species == Mouse; gene == Col1a2; score == 704; expect == 0.0; MEOW:MGgn0001549 (89%) |species == rat; score == 682; expect == 0.0; MEOW:ref|NP_445808.1| (89%) |species == Human; gene == COL24A1; score == 402; expect == 9e-112; MEOW:HUgn0255631 (39%) |species == Human; gene == COL2A1; score == 398; expect == 1e-110; MEOW:HUgn0001280 (60%) |species == Human; gene == COL1A1; score == 384; expect == 2e-106; MEOW:HUgn0001277 (58%) |species == Zfish; gene == col2a1; score == 375; expect == 6e-105; MEOW:ZFgn0000041 (59%) |species == Human; gene == COL3A1; score == 347; expect == 2.7e-95; MEOW:HUgn0001281 (55%) |species == Mosquito; score == 187; expect == 2.6e-47; MEOW:AGgn0026841 (39%) |species == Mosquito; score == 173; expect == 3.0e-43; MEOW:AGgn0021001 (34%) |species == Mosquito; gene == LOC23505; score == 170; expect == 2.5e-42; MEOW:AGgn0023505 (35%) } # EOR GENR { RETE|ID 1 HUgn0001279 CHR 1 15 DID 1 LocusLink:1279 MAP 1 15 NAM 1 collagen, type I, alpha, receptor ORG 1 Homo sapiens SYM 1 COL1AR ID|HUgn0001279 DID|LocusLink:1279 ORG|Homo sapiens SYM|COL1AR NAM|collagen, type I, alpha, receptor SYN|COLR CHR|15 PRD|Collagen I, alpha, receptor DBL|OMIM:120340 MAP|15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119790 } # EOR GENR { RETE|ID 1 HUgn0001280 CHR 1 12 DID 1 LocusLink:1280 MAP 1 12q13.11-q13.2 NAM 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ORG 1 Homo sapiens SYM 1 COL2A1 ID|HUgn0001280 DID|LocusLink:1280 ORG|Homo sapiens RSQ|REFSEQ:NM_001844 |REFSEQ:NM_033150 RPA|REFPROT:NP_001835 |REFPROT:NP_149162 DBA|XM:NM_001844 |XM:NM_033150 |NA:J00116 |NA:L10347 |NA:M25698 |NA:M25730 |NA:M27468 |NA:M37126 |NA:M60299 |NA:S76829 |NA:U15195 |NA:X00339 |NA:X02371 |NA:X02375 |NA:X02376 |NA:X02377 |NA:X02378 |NA:X03320 |NA:X16158 |NA:X57010 |NA:X58709 |NA:AL834148 |NA:BC007252 |NA:M63281 |NA:X06268 |NA:X13783 |NA:X16711 PAC|XP:NP_001835 |XP:NP_149162 SYM|COL2A1 NAM|collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SYN|SEDC |COL11A3 FNC|alpha 1 type II collagen isoform 1 |alpha 1 type II collagen isoform 2, preproprotein |skeletal development ; GO:0001501 REAB|This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found |in cartilage and the vitreous humor of the eye. Mutations in this gene are associated |with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED |congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type |I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in |processing chondrocalcin, a calcium binding protein that is the C-propeptide of |this collagen molecule, are also associated with chondrodysplasia. There are two |transcripts identified for this gene. CHR|12 PRD|COL11A3, formerly |cartilage collagen |chondrocalcin, included |collagen II, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408182 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1280[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119063 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001844 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001844 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408182 |http://www.geneclinics.org/query?mim=120140 DBL|UNIGENE:Hs.408182 |OMIM:120140 |SNP:1280 |UWCM:119063.html MAP|12q13.11-q13.2 PHP|Achondrogenesis-hypochondrogenesis, type II |Epiphyseal dysplasia, multiple, with myopia and deafness |Kniest dysplasia |Osteoarthrosis |SED congenita |SMD |SMED Strudwick type |Spondyloperipheral dysplasia |Stickler syndrome, type I |Wagner syndrome ENZ|collagen ; GO:0005202 CEL|collagen type I ; GO:0005584 |collagen type II ; GO:0005585 |collagen ; GO:0005581 HG|species == Fruitfly; gene == Cg25C; score == 594; expect == 1e-169; MEOW:FBgn0000299 (39%) |species == rat; score == 526; expect == 4e-149; MEOW:ref|NP_037061.1| (93%) |species == Mouse; gene == Col2a1; score == 525; expect == 6e-149; MEOW:MGgn0001530 (94%) |species == Human; gene == COL24A1; score == 512; expect == 6e-145; MEOW:HUgn0255631 (40%) |species == Mouse; gene == Col5a2; score == 468; expect == 2e-131; MEOW:MGgn0001538 (68%) |species == Mouse; gene == Col1a2; score == 458; expect == 1e-128; MEOW:MGgn0001549 (60%) |species == Zfish; gene == col2a1; score == 456; expect == 1e-128; MEOW:ZFgn0000041 (75%) |species == rat; score == 442; expect == 6e-124; MEOW:ref|NP_445808.1| (60%) |species == rat; score == 436; expect == 6e-122; MEOW:ref|XP_343565.1| (67%) |species == Worm; gene == emb-9; score == 410; expect == 3e-114; MEOW:CEgn0000549 (38%) |species == Mosquito; score == 368; expect == 7e-102; MEOW:AGgn0016783 (41%) } # EOR GENR { RETE|ID 1 HUgn0001281 CHR 1 2 DID 1 LocusLink:1281 MAP 1 2q31 NAM 1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ORG 1 Homo sapiens SYM 1 COL3A1 ID|HUgn0001281 DID|LocusLink:1281 ORG|Homo sapiens RSQ|REFSEQ:NM_000090 RPA|REFPROT:NP_000081 DBA|XM:NM_000090 |NA:M10795 |NA:M10797 |NA:M10798 |NA:M10799 |NA:M26939 |NA:M59312 |NA:AI755052 |NA:BC028178 |NA:M11134 |NA:M13146 |NA:M59227 |NA:S79877 |NA:X01655 |NA:X01742 |NA:X07240 |NA:X14420 |NA:X15332 PAC|XP:NP_000081 SYM|COL3A1 NAM|collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) FNC|alpha 1 type III collagen |circulation ; GO:0008015 |histogenesis and organogenesis ; GO:0007397 REAB|This gene encodes a fibrillar collagen that is found in extensible connective tissues |such as skin, lung, and the vascular system, frequently in association with type |I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type |IV, and with aortic and arterial aneurysms. Although alternate transcripts have |been detected for this gene, they are the result of mutations; these mutations alter |splicing, often leading to the exclusion of multiple exons. CHR|2 PRD|collagen, fetal |Collagen III, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443625 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1281[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118729 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000090 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000090 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443625 |http://www.geneclinics.org/query?mim=130050 |http://www.geneclinics.org/query?mim=120180 |http://www.le.ac.uk/genetics/collagen/collagen.html DBL|UNIGENE:Hs.443625 |OMIM:120180 |SNP:1281 MAP|2q31 PHP|Aneurysm, familial arterial |Ehlers-Danlos syndrome, type III |Ehlers-Danlos syndrome, type IV ENZ|collagen ; GO:0005202 CEL|collagen type III ; GO:0005586 HG|species == Fruitfly; gene == vkg; score == 594; expect == 2e-169; MEOW:FBgn0016075 (37%) |species == Fruitfly; gene == Cg25C; score == 592; expect == 6e-169; MEOW:FBgn0000299 (36%) |species == Human; gene == COL24A1; score == 515; expect == 1e-145; MEOW:HUgn0255631 (40%) |species == rat; score == 493; expect == 3e-139; MEOW:ref|XP_343564.1| (92%) |species == Mouse; gene == Col3a1; score == 491; expect == 1e-138; MEOW:MGgn0001531 (92%) |species == Worm; gene == emb-9; score == 452; expect == 1e-126; MEOW:CEgn0000549 (38%) |species == Mouse; gene == Col1a2; score == 394; expect == 2e-109; MEOW:MGgn0001549 (52%) |species == Human; gene == COL2A1; score == 359; expect == 9.8e-99; MEOW:HUgn0001280 (70%) |species == Zfish; gene == col2a1; score == 353; expect == 1.5e-97; MEOW:ZFgn0000041 (68%) |species == Human; gene == COL1A2; score == 347; expect == 2.7e-95; MEOW:HUgn0001278 (55%) |species == Human; gene == COL1A1; score == 335; expect == 1.5e-91; MEOW:HUgn0001277 (65%) |species == Human; gene == COL4A2; score == 304; expect == 3.4e-82; MEOW:HUgn0001284 (34%) |species == Human; gene == COL5A2; score == 302; expect == 1.5e-81; MEOW:HUgn0001290 (58%) |species == Mosquito; score == 186; expect == 8.0e-48; MEOW:AGgn0026841 (37%) |species == Mosquito; score == 172; expect == 1.6e-42; MEOW:AGgn0021001 (42%) |species == Mosquito; gene == LOC23505; score == 167; expect == 3.8e-41; MEOW:AGgn0023505 (45%) |species == Mosquito; score == 157; expect == 1.5e-38; MEOW:AGgn0026879 (40%) } # EOR GENR { RETE|ID 1 HUgn0001282 CHR 1 13 DID 1 LocusLink:1282 MAP 1 13q34 NAM 1 collagen, type IV, alpha 1 ORG 1 Homo sapiens SYM 1 COL4A1 ID|HUgn0001282 DID|LocusLink:1282 ORG|Homo sapiens RSQ|REFSEQ:NM_001845 RPA|REFPROT:NP_001836 DBA|XM:NM_001845 |NA:J04217 |NA:M26576 |NA:M36963 |NA:X12784 |NA:AF258349 |NA:AF363672 |NA:BC047305 |NA:M10940 |NA:M10941 |NA:M11315 |NA:X03963 |NA:X05561 |NA:Y00706 |NA:none PAC|XP:NP_001836 SYM|COL4A1 NAM|collagen, type IV, alpha 1 FNC|alpha 1 type IV collagen preproprotein |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes the major type IV alpha collagen chain of basement membranes. Like |the other members of the type IV collagen gene family, this gene is organized in |a head-to-head conformation with another type IV collagen gene so that each gene |pair shares a common promoter. CHR|13 PRD|collagen IV, alpha-1 polypeptide |collagen of basement membrane, alpha-1 chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437173 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1282[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119791 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001845 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001845 DBL|UNIGENE:Hs.437173 |OMIM:120130 |SNP:1282 MAP|13q34 ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen type IV ; GO:0005587 |nucleus ; GO:0005634 HG|species == Fruitfly; gene == Cg25C; score == 960; expect == 0.0; MEOW:FBgn0000299 (41%) |species == Mosquito; gene == LOC22392; score == 947; expect == 0.0; MEOW:AGgn0022392 (39%) |species == Fruitfly; gene == vkg; score == 866; expect == 0.0; MEOW:FBgn0016075 (38%) |species == Worm; gene == emb-9; score == 740; expect == 0.0; MEOW:CEgn0000549 (41%) |species == Mosquito; gene == LOC16652; score == 686; expect == 0.0; MEOW:AGgn0016652 (41%) |species == Mouse; gene == Col4a6; score == 684; expect == 0.0; MEOW:MGgn0039634 (39%) |species == Mosquito; score == 640; expect == 0.0; MEOW:AGgn0016783 (45%) |species == Human; gene == COL4A2; score == 605; expect == 5e-173; MEOW:HUgn0001284 (43%) |species == rat; score == 599; expect == 7e-171; MEOW:ref|XP_214400.2| (89%) |species == rat; score == 573; expect == 2e-163; MEOW:ref|XP_225043.2| (46%) |species == Human; gene == COL4A6; score == 498; expect == 2e-140; MEOW:HUgn0001288 (41%) |species == Mouse; gene == Col4a5; score == 435; expect == 1e-121; MEOW:MGgn0001536 (79%) |species == Mouse; gene == Col4a2; score == 391; expect == 5e-109; MEOW:MGgn0001533 (57%) |species == Mouse; gene == Col4a3; score == 371; expect == 2e-102; MEOW:MGgn0001534 (70%) |species == Worm; gene == let-2; score == 334; expect == 2.0e-91; MEOW:CEgn0001109 (65%) } # EOR GENR { RETE|ID 1 HUgn0001283 DID 1 LocusLink:1283 NAM 1 Coats disease ORG 1 Homo sapiens SYM 1 CTD ID|HUgn0001283 DID|LocusLink:1283 ORG|Homo sapiens SYM|CTD NAM|Coats disease URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265283 } # EOR GENR { RETE|ID 1 HUgn0001284 CHR 1 13 DID 1 LocusLink:1284 MAP 1 13q34 NAM 1 collagen, type IV, alpha 2 ORG 1 Homo sapiens SYM 1 COL4A2 ID|HUgn0001284 DID|LocusLink:1284 ORG|Homo sapiens RSQ|REFSEQ:NM_001846 RPA|REFPROT:NP_001837 DBA|XM:NM_001846 |NA:J04217 |NA:M36963 |NA:X12784 |NA:AF258350 |NA:AF400430 |NA:AK025912 |NA:J02760 |NA:M24766 |NA:X05562 |NA:X05610 |NA:none PAC|XP:NP_001837 SYM|COL4A2 NAM|collagen, type IV, alpha 2 SYN|FLJ22259 FNC|alpha 2 type IV collagen preproprotein |regulation of transcription, DNA-dependent ; GO:0006355 |extracellular matrix organization and biogenesis ; GO:0030198 REAB|This gene encodes one of the six subunits of type IV collagen, the major structural |component of basement membranes. The C-terminal portion of the protein, known as |canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members |of the type IV collagen gene family, this gene is organized in a head-to-head conformation |with another type IV collagen gene so that each gene pair shares a common promoter. CHR|13 PRD|canstatin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407912 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1284[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119792 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001846 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001846 DBL|UNIGENE:Hs.407912 |OMIM:120090 |SNP:1284 MAP|13q34 ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen type IV ; GO:0005587 |nucleus ; GO:0005634 HG|species == rat; score == 1622; expect == 0.0; MEOW:ref|XP_225043.2| (76%) |species == Fruitfly; gene == Cg25C; score == 903; expect == 0.0; MEOW:FBgn0000299 (37%) |species == Mosquito; gene == LOC22392; score == 859; expect == 0.0; MEOW:AGgn0022392 (40%) |species == Fruitfly; gene == vkg; score == 844; expect == 0.0; MEOW:FBgn0016075 (36%) |species == Mouse; gene == Col4a6; score == 813; expect == 0.0; MEOW:MGgn0039634 (45%) |species == Mouse; gene == Col4a2; score == 699; expect == 0.0; MEOW:MGgn0001533 (93%) |species == Human; gene == COL4A6; score == 688; expect == 0.0; MEOW:HUgn0001288 (46%) |species == Worm; gene == emb-9; score == 669; expect == 0.0; MEOW:CEgn0000549 (38%) |species == Worm; gene == let-2; score == 645; expect == 0.0; MEOW:CEgn0001109 (48%) |species == Human; gene == COL4A4; score == 636; expect == 0.0; MEOW:HUgn0001286 (46%) |species == rat; score == 611; expect == 1e-174; MEOW:ref|XP_214400.2| (45%) |species == Human; gene == COL4A1; score == 605; expect == 5e-173; MEOW:HUgn0001282 (43%) |species == Human; gene == COL4A5; score == 594; expect == 2e-169; MEOW:HUgn0001287 (43%) |species == Human; gene == COL4A3; score == 560; expect == 3e-159; MEOW:HUgn0001285 (40%) |species == rat; score == 552; expect == 7e-157; MEOW:ref|XP_343606.1| (39%) } # EOR GENR { RETE|ID 1 HUgn0001285 CHR 1 2 DID 1 LocusLink:1285 MAP 1 2q36-q37 NAM 1 collagen, type IV, alpha 3 (Goodpasture antigen) ORG 1 Homo sapiens SYM 1 COL4A3 ID|HUgn0001285 DID|LocusLink:1285 ORG|Homo sapiens RSQ|REFSEQ:NM_000091 |REFSEQ:NM_031362 |REFSEQ:NM_031363 |REFSEQ:NM_031364 |REFSEQ:NM_031365 |REFSEQ:NM_031366 RPA|REFPROT:NP_000082 |REFPROT:NP_112730 |REFPROT:NP_112731 |REFPROT:NP_112732 |REFPROT:NP_112733 |REFPROT:NP_112734 DBA|XM:NM_000091 |XM:NM_031362 |XM:NM_031363 |XM:NM_031364 |XM:NM_031365 |XM:NM_031366 |NA:AB008495 |NA:AF218541 |NA:AJ288534 |NA:AJ288535 |NA:AJ288536 |NA:AJ288537 |NA:AJ288538 |NA:L08650 |NA:AF258351 |NA:M81379 |NA:M92993 |NA:S55790 |NA:U02519 |NA:U02520 |NA:X80031 |NA:none PAC|XP:NP_000082 |XP:NP_112730 |XP:NP_112731 |XP:NP_112732 |XP:NP_112733 |XP:NP_112734 SYM|COL4A3 NAM|collagen, type IV, alpha 3 (Goodpasture antigen) SYN|TUMSTATIN FNC|alpha 3 type IV collagen isoform 1, precursor |alpha 3 type IV collagen isoform 2, precursor |alpha 3 type IV collagen isoform 3, precursor |alpha 3 type IV collagen isoform 4, precursor |alpha 3 type IV collagen isoform 5, precursor |negative regulation of cell proliferation ; GO:0008285 |hearing ; GO:0007605 |pathogenesis ; GO:0009405 |regulation of transcription, DNA-dependent ; GO:0006355 |circulation ; GO:0008015 |cell adhesion ; GO:0007155 REAB|This gene encodes one of the six subunits of type IV collagen, the major structural |component of basement membranes. In the Goodpasture syndrome, autoantibodies bind |to the collagen molecules in the basement membranes of alveoli and glomeruli. The |epitopes that elicit these autoantibodies are localized largely to the non-collagenous |C-terminal domain of the protein. A specific kinase phosphorylates amino acids in |this same C-terminal region and the expression of this kinase is upregulated during |pathogenesis. There are six alternate transcripts that appear to be unique to this |human subunit gene and alternate splicing is restricted to the six exons that encode |this domain. This gene is also linked to an autosomal recessive form of Alport syndrome. |The mutations contributing to this syndrome are also located within the exons that |encode this C-terminal region. Like the other members of the type IV collagen gene |family, this gene is organized in a head-to-head conformation with another type |IV collagen gene so that each gene pair shares a common promoter. CHR|2 PRD|Goodpasture antigen |collagen IV, alpha-3 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407817 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1285[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128351 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000091 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000091 |http://www.geneclinics.org/query?mim=120070 DBL|UNIGENE:Hs.407817 |OMIM:120070 |SNP:1285 MAP|2q36-q37 PHP|Alport syndrome, autosomal recessive ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 |cell adhesion molecule activity ; GO:0005194 CEL|collagen type IV ; GO:0005587 |nucleus ; GO:0005634 HG|species == Fruitfly; gene == Cg25C; score == 876; expect == 0.0; MEOW:FBgn0000299 (39%) |species == Mosquito; gene == LOC22392; score == 867; expect == 0.0; MEOW:AGgn0022392 (35%) |species == Fruitfly; gene == vkg; score == 859; expect == 0.0; MEOW:FBgn0016075 (37%) |species == Worm; gene == emb-9; score == 717; expect == 0.0; MEOW:CEgn0000549 (40%) |species == Mouse; gene == Col4a6; score == 642; expect == 0.0; MEOW:MGgn0039634 (37%) |species == Mosquito; gene == LOC16652; score == 621; expect == 1e-177; MEOW:AGgn0016652 (39%) |species == Human; gene == COL4A2; score == 560; expect == 3e-159; MEOW:HUgn0001284 (40%) |species == Mosquito; score == 555; expect == 3e-158; MEOW:AGgn0016783 (40%) |species == rat; score == 515; expect == 1e-145; MEOW:ref|XP_225043.2| (40%) |species == rat; score == 500; expect == 2e-141; MEOW:ref|XP_343608.1| (88%) |species == Human; gene == COL4A6; score == 464; expect == 1e-130; MEOW:HUgn0001288 (39%) |species == Worm; gene == let-2; score == 318; expect == 8.8e-87; MEOW:CEgn0001109 (56%) } # EOR GENR { RETE|ID 1 HUgn0001286 CHR 1 2 DID 1 LocusLink:1286 MAP 1 2q35-q37 NAM 1 collagen, type IV, alpha 4 ORG 1 Homo sapiens SYM 1 COL4A4 ID|HUgn0001286 DID|LocusLink:1286 ORG|Homo sapiens RSQ|REFSEQ:NM_000092 RPA|REFPROT:NP_000083 DBA|XM:NM_000092 |NA:AB008495 |NA:AB008496 |NA:AF218541 |NA:L01475 |NA:L01476 |NA:Y17397 |NA:D17391 |NA:X81053 |NA:none PAC|XP:NP_000083 SYM|COL4A4 NAM|collagen, type IV, alpha 4 SYN|CA44 FNC|alpha 4 type IV collagen precursor |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes one of the six subunits of type IV collagen, the major structural |component of basement membranes. This particular collagen IV subunit, however, is |only found in a subset of basement membranes. Like the other members of the type |IV collagen gene family, this gene is organized in a head-to-head conformation with |another type IV collagen gene so that each gene pair shares a common promoter. Mutations |in this gene are associated with type II autosomal recessive Alport syndrome (hereditary |glomerulonephropathy) and with familial benign hematuria (thin basement membrane |disease). Two transcripts, differing only in their transcription start sites, have |been identified for this gene and, as is common for collagen genes, multiple polyadenylation |sites are found in the 3'UTR. CHR|2 PRD|Collagen IV, alpha-4 polypeptide |collagen of basement membrane, alpha-4 chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282938 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1286[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132673 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000092 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000092 |http://www.geneclinics.org/query?mim=120131 DBL|UNIGENE:Hs.282938 |OMIM:120131 |SNP:1286 MAP|2q35-q37 PHP|Alport syndrome, autosomal recessive |Hematuria, familial benign ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen type IV ; GO:0005587 |nucleus ; GO:0005634 HG|species == Fruitfly; gene == Cg25C; score == 872; expect == 0.0; MEOW:FBgn0000299 (39%) |species == Mosquito; gene == LOC22392; score == 860; expect == 0.0; MEOW:AGgn0022392 (38%) |species == Fruitfly; gene == vkg; score == 827; expect == 0.0; MEOW:FBgn0016075 (36%) |species == Mouse; gene == Col4a6; score == 775; expect == 0.0; MEOW:MGgn0039634 (42%) |species == Worm; gene == emb-9; score == 644; expect == 0.0; MEOW:CEgn0000549 (37%) |species == Human; gene == COL4A2; score == 636; expect == 0.0; MEOW:HUgn0001284 (46%) |species == Mosquito; score == 576; expect == 2e-164; MEOW:AGgn0016783 (42%) |species == rat; score == 550; expect == 3e-156; MEOW:ref|XP_225043.2| (44%) |species == Mosquito; gene == LOC16652; score == 547; expect == 2e-155; MEOW:AGgn0016652 (35%) |species == rat; score == 542; expect == 3e-154; MEOW:ref|XP_343606.1| (90%) |species == Mouse; gene == Col4a2; score == 421; expect == 2e-118; MEOW:MGgn0001533 (61%) |species == Human; gene == COL4A6; score == 349; expect == 6.9e-96; MEOW:HUgn0001288 (68%) |species == Worm; gene == let-2; score == 322; expect == 1.6e-87; MEOW:CEgn0001109 (56%) |species == Human; gene == COL4A1; score == 293; expect == 7.6e-79; MEOW:HUgn0001282 (60%) |species == Human; gene == COL4A5; score == 291; expect == 2.2e-78; MEOW:HUgn0001287 (52%) |species == rat; score == 290; expect == 4.8e-78; MEOW:ref|XP_214400.2| (59%) |species == rat; score == 290; expect == 8.7e-79; MEOW:ref|XP_217069.2| (52%) |species == Human; gene == COL4A3; score == 283; expect == 6.0e-76; MEOW:HUgn0001285 (50%) |species == rat; score == 276; expect == 5.6e-74; MEOW:ref|XP_343608.1| (55%) |species == rat; score == 253; expect == 6.8e-67; MEOW:ref|XP_343607.1| (75%) } # EOR GENR { RETE|ID 1 HUgn0001287 CHR 1 X DID 1 LocusLink:1287 MAP 1 Xq22 NAM 1 collagen, type IV, alpha 5 (Alport syndrome) ORG 1 Homo sapiens SYM 1 COL4A5 ID|HUgn0001287 DID|LocusLink:1287 ORG|Homo sapiens RSQ|REFSEQ:NM_000495 |REFSEQ:NM_033380 |REFSEQ:NM_033381 RPA|REFPROT:NP_000486 |REFPROT:NP_203699 |REFPROT:NP_203700 DBA|XM:NM_000495 |XM:NM_033380 |XM:NM_033381 |NA:AF199451 |NA:AF199452 |NA:M63473 |NA:S71779 |NA:U04470 |NA:U04520 |NA:Z37153 |NA:M31115 |NA:M58526 |NA:M90464 |NA:none PAC|XP:NP_000486 |XP:NP_203699 |XP:NP_203700 SYM|COL4A5 NAM|collagen, type IV, alpha 5 (Alport syndrome) SYN|ATS |ASLN |CA54 FNC|alpha 5 type IV collagen isoform 1, precursor |alpha 5 type IV collagen isoform 2, precursor |alpha 5 type IV collagen isoform 3, precursor REAB|This gene encodes one of the six subunits of type IV collagen, the major structural |component of basement membranes. Mutations in this gene are associated with X-linked |Alport syndrome, also known as hereditary nephritis. Like the other members of the |type IV collagen gene family, this gene is organized in a head-to-head conformation |with another type IV collagen gene so that each gene pair shares a common promoter. |Three transcript variants have been identified for this gene. CHR|X PRD|collagen IV, alpha-5 polypeptide |collagen of basement membrane, alpha-5 chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169825 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=497023 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1287[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120596 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033380 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033380 |http://www.geneclinics.org/query?mim=303630 DBL|UNIGENE:Hs.169825 |UNIGENE:Hs.497023 |OMIM:303630 |SNP:1287 |UWCM:120596.html |IXDB:542001 MAP|Xq22 PHP|Alport syndrome ENZ|extracellular matrix structural constituent ; GO:0005201 CEL|collagen type IV ; GO:0005587 |membrane ; GO:0016020 HG|species == Fruitfly; gene == vkg; score == 938; expect == 0.0; MEOW:FBgn0016075 (40%) |species == Fruitfly; gene == Cg25C; score == 932; expect == 0.0; MEOW:FBgn0000299 (41%) |species == Mosquito; gene == LOC22392; score == 920; expect == 0.0; MEOW:AGgn0022392 (38%) |species == Mouse; gene == Col4a6; score == 739; expect == 0.0; MEOW:MGgn0039634 (46%) |species == Worm; gene == emb-9; score == 729; expect == 0.0; MEOW:CEgn0000549 (39%) |species == Human; gene == COL4A2; score == 594; expect == 2e-169; MEOW:HUgn0001284 (43%) |species == rat; score == 563; expect == 3e-160; MEOW:ref|XP_217069.2| (95%) |species == Mouse; gene == Col4a5; score == 560; expect == 2e-159; MEOW:MGgn0001536 (94%) |species == rat; score == 547; expect == 3e-155; MEOW:ref|XP_225043.2| (44%) |species == Human; gene == COL4A6; score == 522; expect == 6e-148; MEOW:HUgn0001288 (41%) |species == Human; gene == COL4A1; score == 435; expect == 1e-121; MEOW:HUgn0001282 (80%) |species == Worm; gene == let-2; score == 353; expect == 4.2e-97; MEOW:CEgn0001109 (58%) |species == Mosquito; score == 162; expect == 2.7e-40; MEOW:AGgn0026879 (35%) } # EOR GENR { RETE|ID 1 HUgn0001288 CHR 1 X DID 1 LocusLink:1288 MAP 1 Xq22 NAM 1 collagen, type IV, alpha 6 ORG 1 Homo sapiens SYM 1 COL4A6 ID|HUgn0001288 DID|LocusLink:1288 ORG|Homo sapiens RSQ|REFSEQ:NM_001847 |REFSEQ:NM_033641 RPA|REFPROT:NP_001838 |REFPROT:NP_378667 DBA|XM:NM_001847 |XM:NM_033641 |NA:AL031177 |NA:AL034369 |NA:AL136080 |NA:D28116 |NA:D63562 |NA:U47004 |NA:BC000874 |NA:BC005305 |NA:D21337 |NA:L22763 |NA:U04845 PAC|XP:NP_001838 |XP:NP_378667 SYM|COL4A6 NAM|collagen, type IV, alpha 6 FNC|type IV alpha 6 collagen isoform A precursor |type IV alpha 6 collagen isoform B precursor |oncogenesis ; GO:0007048 REAB|This gene encodes one of the six subunits of type IV collagen, the major structural |component of basement membranes. Like the other members of the type IV collagen |gene family, this gene is organized in a head-to-head conformation with another |type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a |common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene |result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused |by the deletion in the alpha 5 gene. Two splice variants have been identified for |this gene. CHR|X PRD|collagen IV, alpha-6 polypeptide |collagen of basement membrane, alpha-6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1288[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:222775 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033641 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033641 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408 DBL|UNIGENE:Hs.408 |OMIM:303631 |SNP:1288 MAP|Xq22 PHP|Leiomyomatosis, diffuse, with Alport syndrome ENZ|collagen ; GO:0005202 CEL|collagen type IV ; GO:0005587 |basement membrane ; GO:0005604 HG|species == Mouse; gene == Col4a6; score == 1617; expect == 0.0; MEOW:MGgn0039634 (79%) |species == Fruitfly; gene == Cg25C; score == 937; expect == 0.0; MEOW:FBgn0000299 (39%) |species == Fruitfly; gene == vkg; score == 880; expect == 0.0; MEOW:FBgn0016075 (38%) |species == Mosquito; gene == LOC22392; score == 877; expect == 0.0; MEOW:AGgn0022392 (39%) |species == Worm; gene == emb-9; score == 718; expect == 0.0; MEOW:CEgn0000549 (41%) |species == Human; gene == COL4A2; score == 688; expect == 0.0; MEOW:HUgn0001284 (46%) |species == rat; score == 654; expect == 0.0; MEOW:ref|XP_225043.2| (48%) |species == Mouse; gene == Col4a5; score == 517; expect == 1e-146; MEOW:MGgn0001536 (40%) |species == Mouse; gene == Col4a2; score == 476; expect == 6e-135; MEOW:MGgn0001533 (65%) |species == Mouse; gene == Col4a3; score == 471; expect == 1e-132; MEOW:MGgn0001534 (39%) } # EOR GENR { RETE|ID 1 HUgn0001289 CHR 1 9 DID 1 LocusLink:1289 MAP 1 9q34.2-q34.3 NAM 1 collagen, type V, alpha 1 ORG 1 Homo sapiens SYM 1 COL5A1 ID|HUgn0001289 DID|LocusLink:1289 ORG|Homo sapiens RSQ|REFSEQ:NM_000093 RPA|REFPROT:NP_000084 DBA|XM:NM_000093 |NA:L38808 |NA:AK057231 |NA:BC008760 |NA:BC032405 |NA:D90279 |NA:M76729 |NA:none PAC|XP:NP_000084 SYM|COL5A1 NAM|collagen, type V, alpha 1 FNC|alpha 1 type V collagen preproprotein |regulation of transcription, DNA-dependent ; GO:0006355 |cell adhesion ; GO:0007155 REAB|This gene encodes an alpha chain for one of the low abundance fibrillar collagens. |Fibrillar collagen molecules are trimers that can be composed of one or more types |of alpha chains. Type V collagen is found in tissues containing type I collagen |and appears to regulate the assembly of heterotypic fibers composed of both type |I and type V collagen. This gene product is closely related to type XI collagen |and it is possible that the collagen chains of types V and XI constitute a single |collagen type with tissue-specific chain combinations. Mutations in this gene are |associated with Ehlers-Danlos syndrome, types I and II. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433695 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1289[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131457 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000093 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000093 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433695 |http://www.geneclinics.org/query?mim=120215 DBL|UNIGENE:Hs.433695 |OMIM:120215 |SNP:1289 |UWCM:131457.html MAP|9q34.2-q34.3 PHP|Ehlers-Danlos syndrome, type I |Ehlers-Danlos syndrome, type II ENZ|heparin binding ; GO:0008201 |extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen type V ; GO:0005588 |collagen ; GO:0005581 |nucleus ; GO:0005634 HG|species == Mosquito; gene == LOC22392; score == 641; expect == 0.0; MEOW:AGgn0022392 (36%) |species == rat; score == 634; expect == 0.0; MEOW:ref|NP_604447.1| (79%) |species == Mouse; gene == Col5a1; score == 631; expect == 0.0; MEOW:MGgn0001537 (98%) |species == Fruitfly; gene == vkg; score == 594; expect == 2e-169; MEOW:FBgn0016075 (36%) |species == Fruitfly; gene == Cg25C; score == 579; expect == 6e-165; MEOW:FBgn0000299 (37%) |species == Human; gene == COL24A1; score == 501; expect == 1e-141; MEOW:HUgn0255631 (39%) |species == Human; gene == COL11A1; score == 496; expect == 5e-140; MEOW:HUgn0001301 (77%) |species == Human; gene == COL11A2; score == 454; expect == 1e-127; MEOW:HUgn0001302 (82%) |species == Zfish; gene == col2a1; score == 181; expect == 1.8e-46; MEOW:ZFgn0000041 (42%) |species == Worm; gene == mec-5; score == 134; expect == 6.8e-32; MEOW:CEgn0001935 (48%) } # EOR GENR { RETE|ID 1 HUgn0001290 CHR 1 2 DID 1 LocusLink:1290 MAP 1 2q14-q32 NAM 1 collagen, type V, alpha 2 ORG 1 Homo sapiens SYM 1 COL5A2 ID|HUgn0001290 DID|LocusLink:1290 ORG|Homo sapiens RSQ|REFSEQ:NM_000393 RPA|REFPROT:NP_000384 DBA|XM:NM_000393 |NA:J03051 |NA:M58529 |NA:BC015705 |NA:BC043613 |NA:J04478 |NA:M10956 |NA:M11135 |NA:M11718 |NA:X04758 |NA:Y14690 |NA:none PAC|XP:NP_000384 SYM|COL5A2 NAM|collagen, type V, alpha 2 FNC|alpha 2 type V collagen preproprotein |cell growth and/or maintenance ; GO:0008151 REAB|This gene encodes an alpha chain for one of the low abundance fibrillar collagens. |Fibrillar collagen molecules are trimers that can be composed of one or more types |of alpha chains. Type V collagen is found in tissues containing type I collagen |and appears to regulate the assembly of heterotypic fibers composed of both type |I and type V collagen. This gene product is closely related to type XI collagen |and it is possible that the collagen chains of types V and XI constitute a single |collagen type with tissue-specific chain combinations. Mutations in this gene are |associated with Ehlers-Danlos syndrome, types I and II. Two transcripts that differ |in the length of the 3'UTR due to the use of alternative polyadenylation signals |have been identified for this gene. CHR|2 PRD|AB collagen |Collagen V, alpha-2 polypeptide |collagen, fetal membrane, A polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=283393 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1290[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119064 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000393 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000393 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=283393 |http://www.geneclinics.org/query?mim=120190 DBL|UNIGENE:Hs.283393 |OMIM:120190 |SNP:1290 |UWCM:119064.html MAP|2q14-q32 PHP|Ehlers-Danlos syndrome, type I ENZ|extracellular matrix structural constituent ; GO:0005201 CEL|collagen type V ; GO:0005588 |collagen ; GO:0005581 HG|species == Mouse; gene == Col5a2; score == 1224; expect == 0.0; MEOW:MGgn0001538 (91%) |species == rat; score == 1169; expect == 0.0; MEOW:ref|XP_343565.1| (86%) |species == Human; gene == COL24A1; score == 483; expect == 4e-136; MEOW:HUgn0255631 (35%) |species == Worm; gene == emb-9; score == 407; expect == 4e-113; MEOW:CEgn0000549 (36%) |species == Mouse; gene == Col1a2; score == 359; expect == 5.4e-99; MEOW:MGgn0001549 (51%) |species == rat; score == 343; expect == 4.0e-94; MEOW:ref|NP_445808.1| (52%) |species == Mouse; gene == Col2a1; score == 334; expect == 2.3e-91; MEOW:MGgn0001530 (60%) |species == rat; score == 333; expect == 4.6e-91; MEOW:ref|NP_037061.1| (59%) |species == Zfish; gene == col2a1; score == 314; expect == 1.4e-86; MEOW:ZFgn0000041 (57%) |species == rat; score == 297; expect == 2.8e-80; MEOW:ref|XP_213440.1| (55%) |species == Mouse; gene == Col1a1; score == 296; expect == 4.0e-80; MEOW:MGgn0001548 (55%) |species == Mouse; gene == Col3a1; score == 295; expect == 6.8e-80; MEOW:MGgn0001531 (58%) |species == rat; score == 294; expect == 2.4e-79; MEOW:ref|XP_343564.1| (58%) |species == Mosquito; score == 167; expect == 3.1e-41; MEOW:AGgn0026841 (39%) |species == Mosquito; score == 164; expect == 9.3e-41; MEOW:AGgn0026879 (43%) |species == Mosquito; score == 159; expect == 1.1e-38; MEOW:AGgn0021001 (38%) |species == Mosquito; gene == LOC23505; score == 157; expect == 1.9e-38; MEOW:AGgn0023505 (38%) |species == Mosquito; score == 151; expect == 1.3e-36; MEOW:AGgn0026445 (50%) |species == Mosquito; gene == LOC19179; score == 141; expect == 1.4e-33; MEOW:AGgn0019179 (51%) |species == Mosquito; gene == LOC22392; score == 139; expect == 9.0e-33; MEOW:AGgn0022392 (47%) |species == Mosquito; score == 135; expect == 1.3e-31; MEOW:AGgn0027254 (52%) |species == Mosquito; score == 134; expect == 1.7e-31; MEOW:AGgn0020852 (50%) |species == Fruitfly; gene == Cg25C; score == 134; expect == 2.3e-31; MEOW:FBgn0000299 (48%) } # EOR GENR { RETE|ID 1 HUgn0001291 CHR 1 21 DID 1 LocusLink:1291 MAP 1 21q22.3 NAM 1 collagen, type VI, alpha 1 ORG 1 Homo sapiens SYM 1 COL6A1 ID|HUgn0001291 DID|LocusLink:1291 ORG|Homo sapiens RSQ|REFSEQ:NM_001848 RPA|REFPROT:NP_001839 DBA|XM:NM_001848 |NA:X92430 |NA:X99135 |NA:BC005159 |NA:BC022236 |NA:BC032821 |NA:BC052575 |NA:M20776 |NA:X15879 |NA:X15880 |NA:none PAC|XP:NP_001839 SYM|COL6A1 NAM|collagen, type VI, alpha 1 FNC|collagen, type VI, alpha 1 precursor |regulation of transcription, DNA-dependent ; GO:0006355 |cell adhesion ; GO:0007155 REAB|The collagens are a superfamily of proteins that play a role in maintaining the integrity |of various tissues. Collagens are extracellular matrix proteins and have a triple-helical |domain as their common structural element. Collagen VI is a major structural component |of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the |alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains |are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by |this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations |in the genes that code for the collagen VI subunits result in the autosomal dominant |disorder, Bethlem myopathy. CHR|21 PRD|collagen VI, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=415997 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1291[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119065 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001848 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001848 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=415997 |http://www.geneclinics.org/query?mim=120220 DBL|UNIGENE:Hs.415997 |OMIM:120220 |SNP:1291 |UWCM:119065.html MAP|21q22.3 PHP|Bethlem myopathy ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 |molecular_function unknown ; GO:0005554 |cell adhesion molecule activity ; GO:0005194 CEL|collagen type VI ; GO:0005589 |extracellular matrix ; GO:0005578 |nucleus ; GO:0005634 HG|species == Mouse; gene == Col6a1; score == 927; expect == 0.0; MEOW:MGgn0001539 (88%) |species == rat; score == 915; expect == 0.0; MEOW:ref|XP_215375.2| (87%) |species == Human; gene == COL6A2; score == 223; expect == 5.8e-58; MEOW:HUgn0001292 (33%) |species == Human; gene == LOC131873; score == 180; expect == 7.3e-45; MEOW:HUgn0131873 (42%) } # EOR GENR { RETE|ID 1 HUgn0001292 CHR 1 21 DID 1 LocusLink:1292 MAP 1 21q22.3 NAM 1 collagen, type VI, alpha 2 ORG 1 Homo sapiens SYM 1 COL6A2 ID|HUgn0001292 DID|LocusLink:1292 ORG|Homo sapiens RSQ|REFSEQ:NM_001849 |REFSEQ:NM_058174 |REFSEQ:NM_058175 RPA|REFPROT:NP_001840 |REFPROT:NP_478054 |REFPROT:NP_478055 DBA|XM:NM_001849 |XM:NM_058174 |XM:NM_058175 |NA:M81834 |NA:M81835 |NA:M81836 |NA:S75462 |NA:AF218010 |NA:AL096746 |NA:AL360197 |NA:AY029208 |NA:BC002484 |NA:BT006913 |NA:M34570 |NA:M34572 |NA:M34573 |NA:X06195 |NA:X15977 PAC|XP:NP_001840 |XP:NP_478054 |XP:NP_478055 SYM|COL6A2 NAM|collagen, type VI, alpha 2 SYN|PP3610 |DKFZp586E1322 FNC|alpha 2 type VI collagen isoform 2C2 precursor |alpha 2 type VI collagen isoform 2C2a precursor |muscle development ; GO:0007517 REAB|This gene encodes one of the three alpha chains of type VI collagen, a beaded filament |collagen found in most connective tissues. The product of this gene contains several |domains similar to von Willebrand Factor type A domains. These domains have been |shown to bind extracellular matrix proteins, an interaction that explains the importance |of this collagen in organizing matrix components. Mutations in this gene are associated |with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript |variants have been identified for this gene. CHR|21 PRD|collagen VI, alpha-2 polypeptide |human mRNA for collagen VI alpha-2 C-terminal globular domain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=420269 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1292[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119793 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001849 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001849 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=420269 |http://www.geneclinics.org/query?mim=120240 DBL|UNIGENE:Hs.420269 |OMIM:120240 |SNP:1292 |UWCM:119793.html MAP|21q22.3 PHP|Bethlem myopathy |Ullrich scleroatonic muscular dystrophy ENZ|collagen ; GO:0005202 CEL|collagen type VI ; GO:0005589 HG|species == Mouse; gene == Col6a2; score == 1416; expect == 0.0; MEOW:MGgn0001540 (91%) |species == rat; score == 667; expect == 0.0; MEOW:ref|XP_342116.1| (80%) |species == Mouse; gene == Col6a1; score == 251; expect == 2.0e-66; MEOW:MGgn0001539 (35%) |species == Human; gene == COL6A1; score == 223; expect == 5.8e-58; MEOW:HUgn0001291 (33%) } # EOR GENR { RETE|ID 1 HUgn0001293 CHR 1 2 DID 1 LocusLink:1293 MAP 1 2q37 NAM 1 collagen, type VI, alpha 3 ORG 1 Homo sapiens SYM 1 COL6A3 ID|HUgn0001293 DID|LocusLink:1293 ORG|Homo sapiens RSQ|REFSEQ:NM_004369 |REFSEQ:NM_057164 |REFSEQ:NM_057165 |REFSEQ:NM_057166 |REFSEQ:NM_057167 RPA|REFPROT:NP_004360 |REFPROT:NP_476505 |REFPROT:NP_476506 |REFPROT:NP_476507 |REFPROT:NP_476508 DBA|XM:NM_004369 |XM:NM_057164 |XM:NM_057165 |XM:NM_057166 |XM:NM_057167 |NA:BC033174 |NA:M27449 |NA:S49432 |NA:X06196 |NA:X52022 |NA:none PAC|XP:NP_004360 |XP:NP_476505 |XP:NP_476506 |XP:NP_476507 |XP:NP_476508 SYM|COL6A3 NAM|collagen, type VI, alpha 3 FNC|alpha 3 type VI collagen isoform 1 precursor |alpha 3 type VI collagen isoform 2 precursor |alpha 3 type VI collagen isoform 3 precursor |alpha 3 type VI collagen isoform 4 precursor |alpha 3 type VI collagen isoform 5 precursor |muscle development ; GO:0007517 |cell adhesion ; GO:0007155 REAB|This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, |a beaded filament collagen found in most connective tissues. The alpha 3 chain of |type VI collagen is much larger than the alpha 1 and 2 chains. This difference in |size is largely due to an increase in the number of subdomains, similar to von Willebrand |Factor type A domains, found in the amino terminal globular domain of all the alpha |chains. These domains have been shown to bind extracellular matrix proteins, an |interaction that explains the importance of this collagen in organizing matrix components. |Mutations in the type VI collagen genes are associated with Bethlem myopathy. In |addition to the full length transcript, four transcript variants have been identified |that encode proteins with N-terminal globular domains of varying sizes. CHR|2 PRD|collagen VI, alpha-3 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=233240 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1293[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119066 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004369 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004369 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=233240 |http://www.geneclinics.org/query?mim=120250 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26729 DBL|UNIGENE:Hs.233240 |OMIM:120250 |SNP:1293 |UWCM:119066.html MAP|2q37 PHP|Bethlem myopathy |Ullrich congenital muscular dystrophy ENZ|extracellular matrix structural constituent ; GO:0005201 |serine protease inhibitor activity ; GO:0004867 |cell adhesion molecule activity ; GO:0005194 CEL|collagen type VI ; GO:0005589 |extracellular matrix ; GO:0005578 HG|species == rat; score == 3332; expect == 0.0; MEOW:ref|XP_346074.1| (83%) |species == Mouse; gene == Col6a3; score == 2173; expect == 0.0; MEOW:MGgn0001541 (79%) |species == Human; gene == LOC131873; score == 926; expect == 0.0; MEOW:HUgn0131873 (30%) |species == chimp; score == 132; expect == 4.1e-32; MEOW:sp|Q28792|Q28792 (26%) } # EOR GENR { RETE|ID 1 HUgn0001294 CHR 1 3 DID 1 LocusLink:1294 MAP 1 3p21.1 NAM 1 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) ORG 1 Homo sapiens SYM 1 COL7A1 ID|HUgn0001294 DID|LocusLink:1294 ORG|Homo sapiens RSQ|REFSEQ:NM_000094 RPA|REFPROT:NP_000085 DBA|XM:NM_000094 |NA:L23982 |NA:L02870 |NA:L06862 |NA:M65158 |NA:M96984 |NA:S51236 |NA:none |NA:D13694 PAC|XP:NP_000085 SYM|COL7A1 NAM|collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) SYN|EBD1 |EBR1 |EBDCT FNC|alpha 1 type VII collagen precursor |epidermal differentiation ; GO:0008544 |cell adhesion ; GO:0007155 REAB|This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, |composed of three identical alpha collagen chains, is restricted to the basement |zone beneath stratified squamous epithelia. It functions as an anchoring fibril |between the external epithelia and the underlying stroma. Mutations in this gene |are associated with all forms of dystrophic epidermolysis bullosa. In the absence |of mutations, however, an acquired form of this disease can result from an autoimmune |response made to type VII collagen. CHR|3 PRD|LC collagen |long chain collagen |collagen VII, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1640 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1294[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128750 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000094 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000094 |http://www.geneclinics.org/query?mim=120120 DBL|UNIGENE:Hs.1640 |OMIM:120120 |SNP:1294 |UWCM:128750.html MAP|3p21.1 PHP|EBD, Bart type |EBD, localisata variant |Epidermolysis bullosa dystrophica, AD |Epidermolysis bullosa dystrophica, AR |Epidermolysis bullosa pruriginosa |Epidermolysis bullosa, pretibial |Toenail dystrophy, isolated |Transient bullous of the newborn ENZ|extracellular matrix structural constituent ; GO:0005201 |serine protease inhibitor activity ; GO:0004867 |cell adhesion molecule activity ; GO:0005194 CEL|collagen type VII ; GO:0005590 |basement membrane ; GO:0005604 HG|species == Mouse; gene == Col7a1; score == 2108; expect == 0.0; MEOW:MGgn0001542 (82%) |species == rat; score == 2008; expect == 0.0; MEOW:ref|XP_238554.2| (77%) |species == Fruitfly; gene == vkg; score == 693; expect == 0.0; MEOW:FBgn0016075 (35%) |species == Fruitfly; gene == Cg25C; score == 662; expect == 0.0; MEOW:FBgn0000299 (39%) |species == Mosquito; gene == LOC22392; score == 641; expect == 0.0; MEOW:AGgn0022392 (36%) |species == Human; gene == COL12A1; score == 347; expect == 6.1e-95; MEOW:HUgn0001303 (29%) |species == Human; gene == COL14A1; score == 323; expect == 3.1e-88; MEOW:HUgn0007373 (29%) |species == Worm; gene == let-2; score == 145; expect == 3.1e-34; MEOW:CEgn0001109 (36%) |species == Worm; gene == mec-5; score == 141; expect == 5.9e-33; MEOW:CEgn0001935 (43%) } # EOR GENR { RETE|ID 1 HUgn0001295 CHR 1 3 DID 1 LocusLink:1295 MAP 1 3q12.3 NAM 1 collagen, type VIII, alpha 1 ORG 1 Homo sapiens SYM 1 COL8A1 ID|HUgn0001295 DID|LocusLink:1295 ORG|Homo sapiens RSQ|REFSEQ:NM_001850 |REFSEQ:NM_020351 RPA|REFPROT:NP_001841 |REFPROT:NP_065084 DBA|XM:NM_001850 |XM:NM_020351 |NA:AF170702 |NA:BC013581 |NA:BQ774361 |NA:BT009917 |NA:CA393523 |NA:X57527 |NA:none PAC|XP:NP_001841 |XP:NP_065084 SYM|COL8A1 NAM|collagen, type VIII, alpha 1 SYN|MGC9568 FNC|alpha 1 type VIII collagen precursor |somatic muscle development ; GO:0007525 REAB|This gene encodes one of the two alpha chains of type VIII collagen. The gene product |is a short chain collagen and a major component of the basement membrane of the |corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. |Alternatively spliced transcript variants encoding the same isoform have been observed. CHR|3 PRD|endothelial collagen |collagen VIII, alpha-1 polypeptide |smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=114599 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1295[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128104 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001850 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001850 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=114599 DBL|UNIGENE:Hs.114599 |OMIM:120251 |SNP:1295 MAP|3q12.3 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 334; expect == 1.2e-91; MEOW:ref|XP_221536.2| (95%) |species == Mouse; gene == Col8a1; score == 327; expect == 1.3e-89; MEOW:MGgn0001543 (93%) |species == Human; gene == COL8A2; score == 209; expect == 6.0e-54; MEOW:HUgn0001296 (63%) |species == Worm; gene == let-2; score == 208; expect == 2.6e-53; MEOW:CEgn0001109 (43%) |species == Human; gene == COL10A1; score == 184; expect == 1.9e-46; MEOW:HUgn0001300 (57%) } # EOR GENR { RETE|ID 1 HUgn0001296 CHR 1 1 DID 1 LocusLink:1296 MAP 1 1p34.2 NAM 1 collagen, type VIII, alpha 2 ORG 1 Homo sapiens SYM 1 COL8A2 ID|HUgn0001296 DID|LocusLink:1296 ORG|Homo sapiens RSQ|REFSEQ:NM_005202 RPA|REFPROT:NP_005193 DBA|XM:NM_005202 |NA:M60832 |NA:AK074129 |NA:AK090924 PAC|XP:NP_005193 SYM|COL8A2 NAM|collagen, type VIII, alpha 2 SYN|FECD |PPCD |FLJ00201 FNC|collagen, type VIII, alpha 2 |vision ; GO:0007601 CHR|1 PRD|collagen VIII, alpha-2 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=353001 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1296[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127812 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005202 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005202 DBL|UNIGENE:Hs.353001 |OMIM:120252 |SNP:1296 |UWCM:127812.html MAP|1p34.2 PHP|Alpha 2 subunit of type VIII collagen; component of specialized basement membrane of corneal endothelial cells; member of a family extracellular matrix proteins ENZ|collagen ; GO:0005202 CEL|collagen type VIII ; GO:0005591 |short-chain collagen ; GO:0005598 |basement membrane ; GO:0005604 HG|species == rat; score == 325; expect == 6.7e-89; MEOW:ref|XP_233542.2| (98%) |species == Human; gene == COL8A1; score == 209; expect == 6.0e-54; MEOW:HUgn0001295 (63%) |species == Mouse; gene == Col8a1; score == 201; expect == 1.0e-51; MEOW:MGgn0001543 (71%) |species == Human; gene == COL10A1; score == 191; expect == 1.5e-48; MEOW:HUgn0001300 (63%) |species == Mouse; gene == Col10a1; score == 189; expect == 2.3e-48; MEOW:MGgn0001519 (62%) } # EOR GENR { RETE|ID 1 HUgn0001297 CHR 1 6 DID 1 LocusLink:1297 MAP 1 6q12-q14 NAM 1 collagen, type IX, alpha 1 ORG 1 Homo sapiens SYM 1 COL9A1 ID|HUgn0001297 DID|LocusLink:1297 ORG|Homo sapiens RSQ|REFSEQ:NM_001851 |REFSEQ:NM_078485 RPA|REFPROT:NP_001842 |REFPROT:NP_511040 DBA|XM:NM_001851 |XM:NM_078485 |NA:AF036110 |NA:AF036111 |NA:AF036112 |NA:AF036113 |NA:AF036114 |NA:AF036115 |NA:AF036116 |NA:AF036117 |NA:AF036118 |NA:AF036119 |NA:AF036120 |NA:AF036121 |NA:AF036122 |NA:AF036123 |NA:AF036124 |NA:AF036125 |NA:AF036126 |NA:AF036127 |NA:AF036128 |NA:AF036129 |NA:AF036130 |NA:M32133 |NA:M32135 |NA:M32137 |NA:M34534 |NA:AK125738 |NA:BC008620 |NA:BC015409 |NA:X54412 |NA:X54413 |NA:none PAC|XP:NP_001842 |XP:NP_511040 SYM|COL9A1 NAM|collagen, type IX, alpha 1 SYN|MED |DJ149L1.1.2 FNC|alpha 1 type IX collagen isoform 1 precursor |alpha 1 type IX collagen isoform 2 precursor REAB|This gene encodes one of the three alpha chains of type IX collagen, the major collagen |component of hyaline cartilage. Type IX collagen is usually found in tissues containing |type II collagen, a fibrillar collagen. Studies in knockout mice have shown that |synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, |a heterotrimeric molecule, and that lack of type IX collagen is associated with |early onset osteoarthritis. Mutations in this gene may be associated with multiple |epiphyseal dysplasia. Two transcript variants have been identified for this gene. CHR|6 PRD|collagen IX, alpha-1 polypeptide |cartilage-specific short collagen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=149809 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1297[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119794 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001851 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001851 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=149809 |http://www.geneclinics.org/query?mim=120210 DBL|UNIGENE:Hs.149809 |OMIM:120210 |SNP:1297 MAP|6q12-q14 PHP|Epiphyseal dysplasia, multiple, COL9A1-related HG|species == Mouse; gene == Col9a1; score == 640; expect == 0.0; MEOW:MGgn0001545 (91%) |species == rat; score == 592; expect == 2e-169; MEOW:ref|XP_223124.2| (85%) |species == Human; gene == COL9A2; score == 273; expect == 2.5e-73; MEOW:HUgn0001298 (54%) |species == Human; gene == COL21A1; score == 237; expect == 2.1e-62; MEOW:HUgn0081578 (36%) |species == Human; gene == COL9A3; score == 228; expect == 1.2e-59; MEOW:HUgn0001299 (48%) |species == Worm; gene == let-2; score == 179; expect == 4.4e-45; MEOW:CEgn0001109 (40%) |species == Mosquito; score == 176; expect == 4.0e-44; MEOW:AGgn0020852 (35%) |species == Mosquito; gene == LOC23505; score == 176; expect == 2.3e-44; MEOW:AGgn0023505 (39%) |species == Mosquito; score == 174; expect == 1.2e-43; MEOW:AGgn0021001 (37%) |species == Mosquito; gene == LOC22392; score == 169; expect == 2.8e-42; MEOW:AGgn0022392 (31%) |species == Mosquito; score == 167; expect == 1.1e-41; MEOW:AGgn0026445 (38%) |species == Mosquito; gene == LOC19179; score == 165; expect == 5.4e-41; MEOW:AGgn0019179 (38%) |species == Mosquito; score == 162; expect == 4.5e-40; MEOW:AGgn0016783 (36%) |species == Fruitfly; gene == Cg25C; score == 162; expect == 3.6e-40; MEOW:FBgn0000299 (38%) |species == Worm; gene == emb-9; score == 158; expect == 8.1e-39; MEOW:CEgn0000549 (41%) |species == Mosquito; gene == LOC16652; score == 149; expect == 5.2e-36; MEOW:AGgn0016652 (35%) |species == Fruitfly; gene == vkg; score == 149; expect == 3.2e-36; MEOW:FBgn0016075 (34%) |species == Mosquito; score == 147; expect == 1.2e-35; MEOW:AGgn0026879 (32%) |species == Mosquito; score == 143; expect == 2.2e-34; MEOW:AGgn0014653 (46%) |species == Zfish; gene == col2a1; score == 142; expect == 4.4e-35; MEOW:ZFgn0000041 (47%) } # EOR GENR { RETE|ID 1 HUgn0001298 CHR 1 1 DID 1 LocusLink:1298 MAP 1 1p33-p32 NAM 1 collagen, type IX, alpha 2 ORG 1 Homo sapiens SYM 1 COL9A2 ID|HUgn0001298 DID|LocusLink:1298 ORG|Homo sapiens RSQ|REFSEQ:NM_001852 RPA|REFPROT:NP_001843 DBA|XM:NM_001852 |NA:AF019406 |NA:AL050341 |NA:BC041479 |NA:M95610 |NA:none PAC|XP:NP_001843 SYM|COL9A2 NAM|collagen, type IX, alpha 2 SYN|MED |EDM2 |DJ39G22.4 FNC|alpha 2 type IX collagen |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 REAB|This gene encodes one of the three alpha chains of type IX collagen, the major collagen |component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is |usually found in tissues containing type II collagen, a fibrillar collagen. This |chain is unusual in that, unlike the other two type IX alpha chains, it contains |a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated |with multiple epiphyseal dysplasia. CHR|1 PRD|collagen IX, alpha-2 polypeptide |epiphyseal dysplasia, multiple 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418012 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1298[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138310 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001852 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001852 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418012 |http://www.geneclinics.org/query?mim=120260 DBL|UNIGENE:Hs.418012 |OMIM:120260 |SNP:1298 |UWCM:138310.html MAP|1p33-p32 PHP|Epiphyseal dysplasia, multiple, type 2 |Intervertebral disc disease, susceptibility to ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen type IX ; GO:0005594 |extracellular matrix ; GO:0005578 |nucleus ; GO:0005634 HG|species == Mouse; gene == Col9a1; score == 288; expect == 7.5e-78; MEOW:MGgn0001545 (53%) |species == Human; gene == COL9A1; score == 273; expect == 2.5e-73; MEOW:HUgn0001297 (54%) |species == rat; score == 218; expect == 7.3e-57; MEOW:ref|XP_342600.1| (37%) |species == rat; score == 204; expect == 2.1e-52; MEOW:ref|XP_223124.2| (49%) |species == rat; score == 195; expect == 1.9e-50; MEOW:ref|XP_342904.1| (91%) } # EOR GENR { RETE|ID 1 HUgn0001299 CHR 1 20 DID 1 LocusLink:1299 MAP 1 20q13.3 NAM 1 collagen, type IX, alpha 3 ORG 1 Homo sapiens SYM 1 COL9A3 ID|HUgn0001299 DID|LocusLink:1299 ORG|Homo sapiens RSQ|REFSEQ:NM_001853 RPA|REFPROT:NP_001844 DBA|XM:NM_001853 |NA:AF026801 |NA:AF026802 |NA:BC004412 |NA:BC007574 |NA:BC011705 |NA:L41162 |NA:X91013 PAC|XP:NP_001844 SYM|COL9A3 NAM|collagen, type IX, alpha 3 SYN|IDD |MED |EDM3 |DJ885L7.4.1 FNC|alpha 3 type IX collagen REAB|This gene encodes one of the three alpha chains of type IX collagen, the major collagen |component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is |usually found in tissues containing type II collagen, a fibrillar collagen. Mutations |in this gene are associated with multiple epiphyseal dysplasia. CHR|20 PRD|collagen IX, alpha-3 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=126248 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1299[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:625400 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001853 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001853 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=126248 |http://www.geneclinics.org/query?mim=120270 DBL|UNIGENE:Hs.126248 |OMIM:120270 |SNP:1299 |UWCM:625400.html MAP|20q13.3 PHP|Epiphyseal dysplasia, multiple, 3 |Epiphyseal dysplasia, multiple, with myopathy |Intervertebral disc disease, susceptibility to ENZ|collagen ; GO:0005202 CEL|collagen type IX ; GO:0005594 HG|species == rat; score == 548; expect == 3e-156; MEOW:ref|XP_342600.1| (76%) |species == Mouse; gene == Col9a3; score == 488; expect == 5e-138; MEOW:MGgn0001547 (92%) |species == Mouse; gene == Col9a1; score == 264; expect == 1.5e-70; MEOW:MGgn0001545 (49%) |species == Human; gene == COL9A1; score == 228; expect == 1.2e-59; MEOW:HUgn0001297 (48%) |species == rat; score == 196; expect == 3.4e-50; MEOW:ref|XP_223124.2| (47%) |species == Mosquito; score == 145; expect == 5.4e-35; MEOW:AGgn0026445 (45%) |species == Mosquito; gene == LOC19179; score == 144; expect == 7.0e-35; MEOW:AGgn0019179 (41%) |species == Mosquito; score == 142; expect == 3.5e-34; MEOW:AGgn0020852 (47%) |species == Mosquito; score == 142; expect == 3.5e-34; MEOW:AGgn0021001 (47%) |species == Mosquito; score == 139; expect == 3.8e-33; MEOW:AGgn0014653 (46%) |species == Mosquito; gene == LOC23505; score == 136; expect == 1.9e-32; MEOW:AGgn0023505 (45%) |species == Mosquito; gene == LOC22392; score == 135; expect == 4.3e-32; MEOW:AGgn0022392 (39%) |species == Worm; gene == let-2; score == 134; expect == 9.0e-32; MEOW:CEgn0001109 (42%) |species == Mosquito; gene == LOC16652; score == 132; expect == 4.7e-31; MEOW:AGgn0016652 (39%) |species == Mosquito; score == 131; expect == 6.1e-31; MEOW:AGgn0027254 (40%) } # EOR GENR { RETE|ID 1 HUgn0001300 CHR 1 6 DID 1 LocusLink:1300 MAP 1 6q21-q22 NAM 1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) ORG 1 Homo sapiens SYM 1 COL10A1 ID|HUgn0001300 DID|LocusLink:1300 ORG|Homo sapiens RSQ|REFSEQ:NM_000493 RPA|REFPROT:NP_000484 DBA|XM:NM_000493 |NA:M74050 |NA:S73619 |NA:X58879 |NA:X60382 |NA:X65120 |NA:X72578 |NA:X72579 |NA:X72580 |NA:X98568 |NA:S68531 |NA:none PAC|XP:NP_000484 SYM|COL10A1 NAM|collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) FNC|collagen, type X, alpha 1 precursor |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 REAB|This gene encodes the alpha chain of type X collagen, a short chain collagen expressed |by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII |collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations |in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) |and Japanese type spondylometaphyseal dysplasia (SMD). CHR|6 PRD|collagen X, alpha-1 polypeptide |collagen, type X, alpha 1 (Schmid metaphyseal chondrodysplasia) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=179729 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128635 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000493 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000493 |http://www.geneclinics.org/query?mim=120110 DBL|UNIGENE:Hs.179729 |OMIM:120110 |SNP:1300 |UWCM:128635.html MAP|6q21-q22 PHP|Metaphyseal chondrodysplasia, Schmid type |Spondylometaphyseal dysplasia, Japanese type ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 CEL|collagen ; GO:0005581 |nucleus ; GO:0005634 HG|species == Mouse; gene == Col10a1; score == 495; expect == 5e-140; MEOW:MGgn0001519 (87%) |species == rat; score == 364; expect == 1e-100; MEOW:ref|XP_345114.1| (48%) |species == Human; gene == COL8A2; score == 191; expect == 1.5e-48; MEOW:HUgn0001296 (63%) |species == rat; score == 190; expect == 2.0e-48; MEOW:ref|XP_233542.2| (63%) |species == rat; score == 188; expect == 3.9e-48; MEOW:ref|XP_344415.1| (42%) |species == Human; gene == COL8A1; score == 184; expect == 1.9e-46; MEOW:HUgn0001295 (57%) |species == rat; score == 183; expect == 3.2e-46; MEOW:ref|XP_221536.2| (57%) |species == Mouse; gene == Col8a1; score == 180; expect == 1.3e-45; MEOW:MGgn0001543 (60%) |species == rat; score == 163; expect == 6.8e-41; MEOW:ref|NP_653345.1| (38%) |species == Human; gene == APM1; score == 159; expect == 1.3e-39; MEOW:HUgn0009370 (39%) |species == Mouse; gene == Acrp30; score == 157; expect == 3.8e-39; MEOW:MGgn0000082 (40%) |species == rat; score == 157; expect == 5.0e-38; MEOW:ref|XP_343608.1| (47%) } # EOR GENR { RETE|ID 1 HUgn0001301 CHR 1 1 DID 1 LocusLink:1301 MAP 1 1p21 NAM 1 collagen, type XI, alpha 1 ORG 1 Homo sapiens SYM 1 COL11A1 ID|HUgn0001301 DID|LocusLink:1301 ORG|Homo sapiens RSQ|REFSEQ:NM_001854 |REFSEQ:NM_080629 |REFSEQ:NM_080630 RPA|REFPROT:NP_001845 |REFPROT:NP_542196 |REFPROT:NP_542197 DBA|XM:NM_001854 |XM:NM_080629 |XM:NM_080630 |NA:AF017809 |NA:AF101112 |NA:L38956 |NA:U12139 |NA:AU118365 |NA:J04177 |NA:none PAC|XP:NP_001845 |XP:NP_542196 |XP:NP_542197 SYM|COL11A1 NAM|collagen, type XI, alpha 1 SYN|STL2 |COLL6 FNC|alpha 1 type XI collagen isoform A preproprotein |alpha 1 type XI collagen isoform B preproprotein |alpha 1 type XI collagen isoform C preproprotein |hearing ; GO:0007605 |cartilage condensation ; GO:0001502 |vision ; GO:0007601 |cell-cell adhesion ; GO:0016337 |extracellular matrix organization and biogenesis ; GO:0030198 REAB|This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar |collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally |modified alpha 1 type II chain. Mutations in this gene are associated with type |II Stickler syndrome and with Marshall syndrome. Three transcript variants encoding |different isoforms have been identified for this gene. CHR|1 PRD|collagen XI, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439168 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1301[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120595 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080629 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080629 |http://www.geneclinics.org/query?mim=120280 DBL|UNIGENE:Hs.439168 |OMIM:120280 |SNP:1301 |UWCM:120595.html MAP|1p21 PHP|Marshall syndrome |Stickler syndrome, type II CEL|collagen type XI ; GO:0005592 |collagen ; GO:0005581 ENZ|adhesive extracellular matrix constituent activity ; GO:0030022 HG|species == Mouse; gene == Col11a1; score == 709; expect == 0.0; MEOW:MGgn0001520 (85%) |species == rat; score == 670; expect == 0.0; MEOW:ref|XP_342326.1| (77%) |species == rat; score == 600; expect == 2e-171; MEOW:ref|XP_342327.1| (94%) |species == Fruitfly; gene == vkg; score == 592; expect == 5e-169; MEOW:FBgn0016075 (37%) |species == Human; gene == COL24A1; score == 499; expect == 7e-141; MEOW:HUgn0255631 (37%) |species == Human; gene == COL5A1; score == 496; expect == 5e-140; MEOW:HUgn0001289 (77%) |species == Human; gene == COL11A2; score == 451; expect == 1e-126; MEOW:HUgn0001302 (81%) |species == Mosquito; gene == LOC16652; score == 403; expect == 5e-112; MEOW:AGgn0016652 (38%) |species == Zfish; gene == col2a1; score == 186; expect == 7.0e-48; MEOW:ZFgn0000041 (40%) } # EOR GENR { RETE|ID 1 HUgn0001302 CHR 1 6 DID 1 LocusLink:1302 MAP 1 6p21.3 NAM 1 collagen, type XI, alpha 2 ORG 1 Homo sapiens SYM 1 COL11A2 ID|HUgn0001302 DID|LocusLink:1302 ORG|Homo sapiens RSQ|REFSEQ:NM_080679 |REFSEQ:NM_080680 |REFSEQ:NM_080681 RPA|REFPROT:NP_542410 |REFPROT:NP_542411 |REFPROT:NP_542412 DBA|XM:NM_080679 |XM:NM_080680 |XM:NM_080681 |NA:AL031228 |NA:U32169 |NA:U41065 |NA:U41067 |NA:U41068 |NA:U41069 |NA:AK130938 |NA:J04974 |NA:L18987 |NA:none PAC|XP:NP_542410 |XP:NP_542411 |XP:NP_542412 SYM|COL11A2 NAM|collagen, type XI, alpha 2 SYN|HKE5 |PARP |STL3 |DFNA13 FNC|alpha 2 type XI collagen isoform 1 preproprotein |alpha 2 type XI collagen isoform 2 preproprotein |alpha 2 type XI collagen isoform 3 preproprotein |hearing ; GO:0007605 |skeletal development ; GO:0001501 |cell adhesion ; GO:0007155 |collagen fibril organization ; GO:0030199 REAB|This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar |collagen. It is located on chromosome 6 very close to but separate from the gene |for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha |chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing |of this type XI chain produces PARP, a proline/arginine-rich protein that is an |amino terminal domain. Mutations in this gene are associated with type III Stickler |syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller |syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript |variants encoding different isoforms have been identified for this gene. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390171 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1302[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119788 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080680 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080680 |http://www.geneclinics.org/query?mim=120290 DBL|UNIGENE:Hs.390171 |OMIM:120290 |SNP:1302 |UWCM:119788.html MAP|6p21.3 PHP|Deafness, autosomal dominant 13 |OSMED syndrome |Stickler syndrome, type III |Weissenbacher-Zweymuller syndrome CEL|collagen type XI ; GO:0005592 |collagen ; GO:0005581 ENZ|extracellular matrix structural constituent conferring tensile strength activity ; GO:0030020 HG|species == Mouse; gene == Col11a2; score == 1058; expect == 0.0; MEOW:MGgn0001521 (92%) |species == Mosquito; gene == LOC22392; score == 616; expect == 3e-176; MEOW:AGgn0022392 (35%) |species == rat; score == 483; expect == 4e-136; MEOW:ref|XP_215342.2| (64%) |species == Human; gene == COL24A1; score == 479; expect == 8e-135; MEOW:HUgn0255631 (36%) |species == rat; score == 456; expect == 7e-128; MEOW:ref|NP_604447.1| (82%) |species == Human; gene == COL5A1; score == 454; expect == 1e-127; MEOW:HUgn0001289 (82%) |species == Human; gene == COL11A1; score == 451; expect == 1e-126; MEOW:HUgn0001301 (81%) |species == rat; score == 440; expect == 1e-123; MEOW:ref|XP_215345.2| (87%) } # EOR GENR { RETE|ID 1 HUgn0001303 CHR 1 6 DID 1 LocusLink:1303 MAP 1 6q12-q13 NAM 1 collagen, type XII, alpha 1 ORG 1 Homo sapiens SYM 1 COL12A1 ID|HUgn0001303 DID|LocusLink:1303 ORG|Homo sapiens RSQ|REFSEQ:NM_004370 |REFSEQ:NM_080645 RPA|REFPROT:NP_004361 |REFPROT:NP_542376 DBA|XM:NM_004370 |XM:NM_080645 |NA:AF061871 |NA:AL354664 |NA:S48374 |NA:S48383 |NA:AJ420501 |NA:BC050587 |NA:U68139 |NA:U73778 |NA:U73779 PAC|XP:NP_004361 |XP:NP_542376 SYM|COL12A1 NAM|collagen, type XII, alpha 1 SYN|COL12A1L |BA209D8.1 |DJ234P15.1 FNC|alpha 1 type XII collagen long isoform precursor |alpha 1 type XII collagen short isoform precursor |skeletal development ; GO:0001501 REAB|This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated |collagens with interrupted triple helices) collagen family. Type XII collagen is |a homotrimer found in association with type I collagen, an association that is thought |to modify the interactions between collagen I fibrils and the surrounding matrix. |Two transcript variants encoding different isoforms have been identified for this |gene. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=101302 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1303[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131662 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004370 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004370 DBL|UNIGENE:Hs.101302 |OMIM:120320 |OMIM:120321 |SNP:1303 MAP|6q12-q13 ENZ|collagen ; GO:0005202 CEL|collagen type XII ; GO:0005595 HG|species == Mouse; gene == Col12a1; score == 5047; expect == 0.0; MEOW:MGgn0001522 (91%) |species == rat; score == 4969; expect == 0.0; MEOW:ref|XP_243912.2| (89%) |species == Human; gene == COL14A1; score == 599; expect == 3e-171; MEOW:HUgn0007373 (36%) |species == Human; gene == LOC377697; score == 485; expect == 2e-136; MEOW:HUgn0377697 (51%) } # EOR GENR { RETE|ID 1 HUgn0001305 CHR 1 10 DID 1 LocusLink:1305 MAP 1 10q22 NAM 1 collagen, type XIII, alpha 1 ORG 1 Homo sapiens SYM 1 COL13A1 ID|HUgn0001305 DID|LocusLink:1305 ORG|Homo sapiens RSQ|REFSEQ:NM_005203 |REFSEQ:NM_080798 |REFSEQ:NM_080799 |REFSEQ:NM_080800 |REFSEQ:NM_080801 |REFSEQ:NM_080802 |REFSEQ:NM_080803 |REFSEQ:NM_080804 |REFSEQ:NM_080805 |REFSEQ:NM_080806 |REFSEQ:NM_080807 |REFSEQ:NM_080808 |REFSEQ:NM_080809 |REFSEQ:NM_080810 |REFSEQ:NM_080811 |REFSEQ:NM_080812 |REFSEQ:NM_080813 |REFSEQ:NM_080814 |REFSEQ:NM_080815 RPA|REFPROT:NP_005194 |REFPROT:NP_542988 |REFPROT:NP_542989 |REFPROT:NP_542990 |REFPROT:NP_542991 |REFPROT:NP_542992 |REFPROT:NP_542993 |REFPROT:NP_542994 |REFPROT:NP_542995 |REFPROT:NP_542996 |REFPROT:NP_542997 |REFPROT:NP_542998 |REFPROT:NP_542999 |REFPROT:NP_543000 |REFPROT:NP_543001 |REFPROT:NP_543002 |REFPROT:NP_543003 |REFPROT:NP_543004 |REFPROT:NP_543005 DBA|XM:NM_005203 |XM:NM_080798 |XM:NM_080799 |XM:NM_080800 |XM:NM_080801 |XM:NM_080802 |XM:NM_080803 |XM:NM_080804 |XM:NM_080805 |XM:NM_080806 |XM:NM_080807 |XM:NM_080808 |XM:NM_080809 |XM:NM_080810 |XM:NM_080811 |XM:NM_080812 |XM:NM_080813 |XM:NM_080814 |XM:NM_080815 |NA:AF071009 |NA:AL138925 |NA:M20795 |NA:M20796 |NA:M20797 |NA:M20798 |NA:M20799 |NA:M20800 |NA:M20801 |NA:M20802 |NA:M20803 |NA:M20804 |NA:M20805 |NA:M69008 |NA:AJ293624 |NA:BM744248 |NA:M15524 |NA:M33653 |NA:M59217 PAC|XP:NP_005194 |XP:NP_542988 |XP:NP_542989 |XP:NP_542990 |XP:NP_542991 |XP:NP_542992 |XP:NP_542993 |XP:NP_542994 |XP:NP_542995 |XP:NP_542996 |XP:NP_542997 |XP:NP_542998 |XP:NP_542999 |XP:NP_543000 |XP:NP_543001 |XP:NP_543002 |XP:NP_543003 |XP:NP_543004 |XP:NP_543005 SYM|COL13A1 NAM|collagen, type XIII, alpha 1 FNC|alpha 1 type XIII collagen isoform 1 |alpha 1 type XIII collagen isoform 10 |alpha 1 type XIII collagen isoform 11 |alpha 1 type XIII collagen isoform 12 |alpha 1 type XIII collagen isoform 13 |alpha 1 type XIII collagen isoform 14 |alpha 1 type XIII collagen isoform 15 |alpha 1 type XIII collagen isoform 16 |alpha 1 type XIII collagen isoform 17 |alpha 1 type XIII collagen isoform 18 |alpha 1 type XIII collagen isoform 19 |alpha 1 type XIII collagen isoform 2 |alpha 1 type XIII collagen isoform 3 |alpha 1 type XIII collagen isoform 4 |alpha 1 type XIII collagen isoform 5 |alpha 1 type XIII collagen isoform 6 |alpha 1 type XIII collagen isoform 7 |alpha 1 type XIII collagen isoform 8 |alpha 1 type XIII collagen isoform 9 REAB|This gene encodes the alpha chain of one of the nonfibrillar collagens. The function |of this gene product is not known, however, it has been detected at low levels in |all connective tissue-producing cells so it may serve a general function in connective |tissues. Unlike most of the collagens, which are secreted into the extracellular |matrix, collagen XIII contains a transmembrane domain and the protein has been localized |to the plasma membrane. The transcripts for this gene undergo complex and extensive |splicing involving at least eight exons. Like other collagens, collagen XIII is |a trimer; it is not known whether this trimer is composed of one or more than one |alpha chain isomer. A number of alternatively spliced transcript variants have been |described, but the full length nature of some of them has not been determined. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=211933 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1305[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119789 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005203 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005203 DBL|UNIGENE:Hs.211933 |OMIM:120350 |SNP:1305 MAP|10q22 ENZ|collagen ; GO:0005202 CEL|collagen type XIII ; GO:0005600 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Col13a1; score == 356; expect == 3.0e-98; MEOW:MGgn0001523 (85%) |species == Human; gene == COL4A1; score == 191; expect == 2.4e-48; MEOW:HUgn0001282 (34%) |species == rat; score == 141; expect == 2.6e-33; MEOW:ref|XP_215342.2| (36%) } # EOR GENR { RETE|ID 1 HUgn0001306 CHR 1 9 DID 1 LocusLink:1306 MAP 1 9q21-q22 NAM 1 collagen, type XV, alpha 1 ORG 1 Homo sapiens SYM 1 COL15A1 ID|HUgn0001306 DID|LocusLink:1306 ORG|Homo sapiens RSQ|REFSEQ:NM_001855 RPA|REFPROT:NP_001846 DBA|XM:NM_001855 |NA:AF261108 |NA:L25280 |NA:L25281 |NA:L25282 |NA:L25283 |NA:L25284 |NA:L25285 |NA:D21230 |NA:L01697 |NA:L25286 |NA:none PAC|XP:NP_001846 SYM|COL15A1 NAM|collagen, type XV, alpha 1 FNC|alpha 1 type XV collagen precursor |cell adhesion ; GO:0007155 REAB|This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen |family (fibril-associated collagens with interrupted helices). Type XV collagen |has a wide tissue distribution but the strongest expression is localized to basement |membrane zones so it may function to adhere basement membranes to underlying connective |tissue stroma. Mouse studies have shown that collagen XV deficiency is associated |with muscle and microvessel deterioration. CHR|9 PRD|collagen XV, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409034 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1306[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132578 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001855 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001855 DBL|UNIGENE:Hs.409034 |OMIM:120325 |SNP:1306 MAP|9q21-q22 ENZ|extracellular matrix structural constituent ; GO:0005201 |cell adhesion molecule activity ; GO:0005194 CEL|collagen type XV ; GO:0005582 |extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Col15a1; score == 843; expect == 0.0; MEOW:MGgn0001525 (68%) |species == rat; score == 766; expect == 0.0; MEOW:ref|XP_216399.2| (61%) |species == rat; score == 766; expect == 0.0; MEOW:ref|XP_347341.1| (61%) |species == Fruitfly; gene == CG33171; score == 208; expect == 1.5e-53; MEOW:FBgn0053171 (44%) |species == Human; gene == COL18A1; score == 208; expect == 1.5e-53; MEOW:HUgn0080781 (53%) |species == Worm; gene == cle-1; score == 158; expect == 1.0e-38; MEOW:CEgn0037635 (33%) |species == Mosquito; gene == LOC23830; score == 146; expect == 2.5e-36; MEOW:AGgn0023830 (53%) } # EOR GENR { RETE|ID 1 HUgn0001307 CHR 1 1 DID 1 LocusLink:1307 MAP 1 1p35-p34 NAM 1 collagen, type XVI, alpha 1 ORG 1 Homo sapiens SYM 1 COL16A1 ID|HUgn0001307 DID|LocusLink:1307 ORG|Homo sapiens RSQ|REFSEQ:NM_001856 RPA|REFPROT:NP_001847 DBA|XM:NM_001856 |NA:M92642 |NA:R54778 |NA:S57132 |NA:X14963 |NA:X15038 |NA:none PAC|XP:NP_001847 SYM|COL16A1 NAM|collagen, type XVI, alpha 1 SYN|447AA FNC|alpha 1 type XVI collagen precursor |pregnancy ; GO:0007565 |cell adhesion ; GO:0007155 REAB|This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen |family (fibril-associated collagens with interrupted helices). Members of this collagen |family are found in association with fibril-forming collagens such as type I and |II, and serve to maintain the integrity of the extracellular matrix. High levels |of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth |muscle and amnion. CHR|1 PRD|collagen XVI, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26208 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1307[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134045 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001856 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001856 DBL|UNIGENE:Hs.26208 |OMIM:120326 |SNP:1307 MAP|1p35-p34 ENZ|extracellular matrix structural constituent ; GO:0005201 CEL|collagen type XVI ; GO:0005597 |collagen ; GO:0005581 HG|species == Mouse; gene == Col16a1; score == 710; expect == 0.0; MEOW:MGgn0001526 (80%) |species == rat; score == 618; expect == 1e-176; MEOW:ref|XP_345585.1| (81%) |species == Worm; gene == let-2; score == 207; expect == 5.8e-53; MEOW:CEgn0001109 (40%) |species == Human; gene == COL22A1; score == 165; expect == 1.8e-40; MEOW:HUgn0169044 (32%) |species == Human; gene == COL19A1; score == 140; expect == 7.9e-33; MEOW:HUgn0001310 (27%) } # EOR GENR { RETE|ID 1 HUgn0001308 CHR 1 10 DID 1 LocusLink:1308 MAP 1 10q24.3 NAM 1 collagen, type XVII, alpha 1 ORG 1 Homo sapiens SYM 1 COL17A1 ID|HUgn0001308 DID|LocusLink:1308 ORG|Homo sapiens RSQ|REFSEQ:NM_000494 |REFSEQ:NM_130778 RPA|REFPROT:NP_000485 |REFPROT:NP_570134 DBA|XM:NM_000494 |XM:NM_130778 |NA:U76564 |NA:U76565 |NA:U76566 |NA:U76567 |NA:U76568 |NA:U76569 |NA:U76570 |NA:U76571 |NA:U76572 |NA:U76573 |NA:U76574 |NA:U76575 |NA:U76576 |NA:U76577 |NA:U76578 |NA:U76579 |NA:U76580 |NA:U76581 |NA:U76582 |NA:U76583 |NA:U76584 |NA:U76585 |NA:U76586 |NA:U76587 |NA:U76588 |NA:U76589 |NA:U76590 |NA:U76591 |NA:U76592 |NA:U76593 |NA:U76604 |NA:AF136185 |NA:AF136186 |NA:AU076442 |NA:BC004478 |NA:M63730 |NA:M91669 PAC|XP:NP_000485 |XP:NP_570134 SYM|COL17A1 NAM|collagen, type XVII, alpha 1 SYN|BP180 |BPAG2 |LAD-1 |BA16H23.2 FNC|alpha 1 type XVII collagen |epidermal differentiation ; GO:0008544 |cell-matrix adhesion ; GO:0007160 REAB|This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen |XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, |multiprotein complexes at the dermal-epidermal basement membrane zone that mediate |adhesion of keratinocytes to the underlying membrane. Mutations in this gene are |associated with both generalized atrophic benign and junctional epidermolysis bullosa. |Two homotrimeric forms of type XVII collagen exist. The full length form is the |transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, |is generated by proteolytic processing of the full length form. Two transcript variants, |one resulting from alternative splicing in the 3' UTR, have been identified for |this gene. CHR|10 PRD|collagen XVII, alpha-1 polypeptide |bullous pemphigoid antigen 2 (180kD) |epidermolysis bullosa, junctional, localisata variant, included URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=117938 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1308[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131396 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000494 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000494 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=117938 |http://www.geneclinics.org/query?mim=113811 DBL|UNIGENE:Hs.117938 |OMIM:113811 |SNP:1308 |UWCM:131396.html MAP|10q24.3 PHP|Epidermolysis bullosa, generalized atrophic benign CEL|intercellular junction ; GO:0005911 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Col17a1; score == 912; expect == 0.0; MEOW:MGgn0001527 (82%) |species == rat; score == 852; expect == 0.0; MEOW:ref|XP_219976.2| (75%) } # EOR GENR { RETE|ID 1 HUgn0001310 CHR 1 6 DID 1 LocusLink:1310 MAP 1 6q12-q13 NAM 1 collagen, type XIX, alpha 1 ORG 1 Homo sapiens SYM 1 COL19A1 ID|HUgn0001310 DID|LocusLink:1310 ORG|Homo sapiens RSQ|REFSEQ:NM_001858 RPA|REFPROT:NP_001849 DBA|XM:NM_001858 |NA:AB004584 |NA:AB004585 |NA:AB004586 |NA:AB004587 |NA:AB004588 |NA:AB004589 |NA:AB004590 |NA:AB004591 |NA:AB004592 |NA:AB004593 |NA:AB004594 |NA:AB004595 |NA:AB004596 |NA:AB004597 |NA:AB004598 |NA:AB004599 |NA:AB004600 |NA:AB004601 |NA:AB004602 |NA:AB004603 |NA:AB004604 |NA:AB004605 |NA:AB004606 |NA:AB004607 |NA:AB004608 |NA:AB004609 |NA:AB004610 |NA:AB004629 |NA:AB004630 |NA:AL118519 |NA:AL136445 |NA:AL160262 |NA:D38463 |NA:D38464 |NA:D38465 |NA:D38466 |NA:U09280 |NA:D38163 |NA:L12347 |NA:M63597 |NA:U09279 |NA:none PAC|XP:NP_001849 SYM|COL19A1 NAM|collagen, type XIX, alpha 1 SYN|COL9A1L |D6S228E FNC|alpha 1 type XIX collagen precursor |regulation of transcription, DNA-dependent ; GO:0006355 |cell adhesion ; GO:0007155 REAB|This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen |family (fibril-associated collagens with interrupted helices). Although the function |of this collagen is not known, other members of this collagen family are found in |association with fibril-forming collagens such as type I and II, and serve to maintain |the integrity of the extracellular matrix. The transcript produced from this gene |has an unusually large 3' UTR which has not been completely sequenced. Other transcripts |may arise from alternative splicing but the nature of these transcripts has not |been determined conclusively and protein products have not been identified. CHR|6 PRD|collagen alpha 1 (Y) chain |collagen XIX, alpha-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1310[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3888220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001858 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001858 DBL|UNIGENE:Hs.437567 |OMIM:120165 |SNP:1310 MAP|6q12-q13 ENZ|extracellular matrix structural constituent ; GO:0005201 |DNA binding ; GO:0003677 |cell adhesion molecule activity ; GO:0005194 CEL|collagen ; GO:0005581 |nucleus ; GO:0005634 HG|species == Mouse; gene == Col19a1; score == 535; expect == 6e-152; MEOW:MGgn0001529 (88%) |species == rat; score == 414; expect == 2e-115; MEOW:ref|XP_346031.1| (64%) |species == Human; gene == COL22A1; score == 201; expect == 3.8e-51; MEOW:HUgn0169044 (33%) } # EOR GENR { RETE|ID 1 HUgn0001311 CHR 1 19 DID 1 LocusLink:1311 MAP 1 19p13.1 NAM 1 cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) ORG 1 Homo sapiens SYM 1 COMP ID|HUgn0001311 DID|LocusLink:1311 ORG|Homo sapiens RSQ|REFSEQ:NM_000095 RPA|REFPROT:NP_000086 DBA|XM:NM_000095 |NA:AC003107 |NA:S79499 |NA:S79500 |NA:AB086984 |NA:AK074508 |NA:BC033676 |NA:L32137 |NA:none PAC|XP:NP_000086 SYM|COMP NAM|cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) SYN|MED |EDM1 |EPD1 |PSACH FNC|cartilage oligomeric matrix protein presursor REAB|Cartilage oligomeric matrix protein (COMP) is a noncollagenous extracellular matrix |(ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like |and calcium-binding (thrombospondin-like) domains. Oligomerization results from |formation of a five-stranded coiled coil and disulfides. COMP contains an RGD sequence |although its functional significance is uncertain. Binding to other ECM proteins |such as collagen appears to depend on divalent cations. Mutations can cause the |osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia |(MED). CHR|19 PRD|epiphyseal dysplasia, multiple 1 |pseudoachondroplasia (epiphyseal dysplasia 1, multiple) |cartilage oligomeric matrix protein(pseudoachondroplasia, epiphyseal dysplasia 1, multiple) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1584 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1311[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344263 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000095 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000095 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1584 |http://www.geneclinics.org/query?mim=600310 DBL|UNIGENE:Hs.1584 |OMIM:600310 |SNP:1311 MAP|19p13.1 PHP|Epiphyseal dysplasia, multiple 1 |Pseudoachondroplasia HG|species == Mouse; gene == Comp; score == 1245; expect == 0.0; MEOW:MGgn0001551 (90%) |species == Human; gene == THBS4; score == 996; expect == 0.0; MEOW:HUgn0007060 (69%) |species == Zfish; gene == thbs3; score == 962; expect == 0.0; MEOW:ZFgn0003849 (64%) |species == Zfish; gene == thbs4; score == 961; expect == 0.0; MEOW:ZFgn0011928 (67%) |species == rat; score == 949; expect == 0.0; MEOW:ref|XP_342173.1| (65%) |species == Human; gene == THBS3; score == 920; expect == 0.0; MEOW:HUgn0007059 (65%) |species == Mosquito; gene == LOC19383; score == 828; expect == 0.0; MEOW:AGgn0019383 (59%) } # EOR GENR { RETE|ID 1 HUgn0001312 CHR 1 22 DID 1 LocusLink:1312 MAP 1 22q11.21-q11.23 NAM 1 catechol-O-methyltransferase ORG 1 Homo sapiens SYM 1 COMT ID|HUgn0001312 DID|LocusLink:1312 ORG|Homo sapiens RSQ|REFSEQ:NM_000754 |REFSEQ:NM_007310 RPA|REFPROT:NP_000745 |REFPROT:NP_009294 DBA|XM:NM_000754 |XM:NM_007310 |NA:Z26491 |NA:AK130031 |NA:BC000419 |NA:BC005867 |NA:BC011935 |NA:M58525 |NA:M65212 |NA:M65213 |NA:none PAC|XP:NP_000745 |XP:NP_009294 SYM|COMT NAM|catechol-O-methyltransferase FNC|catechol-O-methyltransferase isoform MB-COMT |catechol-O-methyltransferase isoform S-COMT |catecholamine metabolism ; GO:0006584 |neurotransmitter catabolism ; GO:0042135 REAB|Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine |to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. | This O-methylation results in one of the major degradative pathways of the catecholamine |transmitters. In addition to its role in the metabolism of endogenous substances, |COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, |asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble |form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT |and MB-COMT reside within the N-termini. The transcript variants are formed through |the use of alternative translation initiation sites and promoters. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=240013 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1312[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000754 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000754 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=240013 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA117 DBL|UNIGENE:Hs.240013 |OMIM:116790 |SNP:1312 ENZ|EC:2.1.1.6 |magnesium ion binding ; GO:0000287 |transferase activity ; GO:0016740 |catechol O-methyltransferase activity ; GO:0016206 MAP|22q11.21-q11.23 PHP|Schizophrenia, susceptibility to CEL|microsome ; GO:0005792 |soluble fraction ; GO:0005625 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Comt; score == 414; expect == 2e-116; MEOW:MGgn0001552 (80%) |species == rat; score == 404; expect == 4e-113; MEOW:ref|NP_036663.1| (79%) |species == Human; gene == LOC376041; score == 164; expect == 6.1e-41; MEOW:HUgn0376041 (37%) } # EOR GENR { RETE|ID 1 HUgn0001313 DID 1 LocusLink:1313 NAM 1 clathrin-ordered protein ORG 1 Homo sapiens SYM 1 COP ID|HUgn0001313 DID|LocusLink:1313 ORG|Homo sapiens SYM|COP NAM|clathrin-ordered protein SYN|CLTO URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127345 } # EOR GENR { RETE|ID 1 HUgn0001314 CHR 1 1 DID 1 LocusLink:1314 MAP 1 1q23-q25 NAM 1 coatomer protein complex, subunit alpha ORG 1 Homo sapiens SYM 1 COPA ID|HUgn0001314 DID|LocusLink:1314 ORG|Homo sapiens RSQ|REFSEQ:NM_004371 RPA|REFPROT:NP_004362 DBA|XM:NM_004371 |NA:BC037941 |NA:BC038447 |NA:U24105 |NA:none PAC|XP:NP_004362 SYM|COPA NAM|coatomer protein complex, subunit alpha SYN|HEP-COP FNC|coatomer protein complex, subunit alpha |ER to Golgi transport ; GO:0006888 |intracellular protein transport ; GO:0006886 REAB|In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi |compartments is mediated in part by non-clathrin-coated vesicular coat proteins |(COPs). Seven coat proteins have been identified, and they represent subunits of |a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, |gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, |shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex |in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive |peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a |gastrointestinal hormone. CHR|1 PRD|xenin |alpha coat protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=477132 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1314[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4642787 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004371 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004371 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=477132 DBL|UNIGENE:Hs.477132 |OMIM:601924 |SNP:1314 MAP|1q23-q25 ENZ|hormone activity ; GO:0005179 |protein transporter activity ; GO:0008565 CEL|membrane ; GO:0016020 |secretory vesicle ; GO:0005803 |Golgi apparatus ; GO:0005794 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Copa; score == 2432; expect == 0.0; MEOW:MGgn0001554 (98%) |species == rat; score == 2417; expect == 0.0; MEOW:ref|XP_222899.2| (98%) |species == Mosquito; gene == LOC2872; score == 1799; expect == 0.0; MEOW:AGgn0002872 (70%) |species == Fruitfly; gene == &agr;Cop; score == 1782; expect == 0.0; MEOW:FBgn0025725 (70%) |species == Worm; gene == Y71F9AL.17; score == 1476; expect == 0.0; MEOW:CEgn0022521 (59%) |species == Weed; gene == At1g62020; score == 1336; expect == 0.0; MEOW:ATgn0006471 (54%) |species == rice; score == 1322; expect == 0.0; MEOW:gnl|TIGR|8360.m04514 (54%) |species == rice; score == 1322; expect == 0.0; MEOW:gnl|TIGR|8360.m04515 (54%) |species == Weed; gene == At2g21390; score == 1318; expect == 0.0; MEOW:ATgn0010450 (54%) |species == rice; score == 1260; expect == 0.0; MEOW:gnl|TIGR|8357.m00233 (53%) |species == Yeast; gene == COP1; score == 1010; expect == 0.0; MEOW:SGgn0002304 (43%) |species == Human; gene == COPB2; score == 273; expect == 4.2e-73; MEOW:HUgn0009276 (26%) } # EOR GENR { RETE|ID 1 HUgn0001315 CHR 1 11 DID 1 LocusLink:1315 MAP 1 11p15.2 NAM 1 coatomer protein complex, subunit beta ORG 1 Homo sapiens SYM 1 COPB ID|HUgn0001315 DID|LocusLink:1315 ORG|Homo sapiens RSQ|REFSEQ:NM_016451 RPA|REFPROT:NP_057535 DBA|XM:NM_016451 |NA:AF084457 |NA:AF111807 |NA:AL136593 |NA:BC012572 |NA:BC037280 |NA:X82103 |NA:none PAC|XP:NP_057535 SYM|COPB NAM|coatomer protein complex, subunit beta SYN|DKFZp761K102 FNC|coatomer protein complex, subunit beta |pathogenesis ; GO:0009405 |nonselective vesicle transport ; GO:0006899 |intracellular protein transport ; GO:0006886 CHR|11 PRD|beta coat protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3059 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1315[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4642789 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016451 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016451 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3059 DBL|UNIGENE:Hs.3059 |OMIM:600959 |SNP:1315 MAP|11p15.2 ENZ|protein transporter activity ; GO:0008565 CEL|Golgi vesicle ; GO:0005798 |membrane ; GO:0016020 |Golgi membrane ; GO:0000139 |cytosol ; GO:0005829 HG|species == Mouse; gene == Copb1; score == 1788; expect == 0.0; MEOW:MGgn0020819 (99%) |species == rat; score == 1784; expect == 0.0; MEOW:ref|NP_542959.1| (99%) |species == Mosquito; gene == LOC16931; score == 1229; expect == 0.0; MEOW:AGgn0016931 (68%) |species == Fruitfly; gene == &bgr;Cop; score == 1203; expect == 0.0; MEOW:FBgn0008635 (66%) |species == Worm; gene == Y25C1A.5; score == 1079; expect == 0.0; MEOW:CEgn0018119 (60%) |species == Weed; gene == At4g31480; score == 847; expect == 0.0; MEOW:ATgn0018765 (49%) |species == Weed; gene == At4g31490; score == 847; expect == 0.0; MEOW:ATgn0018767 (49%) |species == rice; score == 824; expect == 0.0; MEOW:gnl|TIGR|8350.m01649 (49%) |species == rice; score == 817; expect == 0.0; MEOW:gnl|TIGR|8358.m00646 (48%) |species == Yeast; gene == SEC26; score == 742; expect == 0.0; MEOW:SGgn0002646 (42%) } # EOR GENR { RETE|ID 1 HUgn0001316 CHR 1 10 DID 1 LocusLink:1316 MAP 1 10p15 NAM 1 core promoter element binding protein ORG 1 Homo sapiens SYM 1 COPEB ID|HUgn0001316 DID|LocusLink:1316 ORG|Homo sapiens RSQ|REFSEQ:NM_001300 RPA|REFPROT:NP_001291 DBA|XM:NM_001300 |NA:AB017493 |NA:AF001461 |NA:BC000311 |NA:BC004301 |NA:BM544849 |NA:U44975 |NA:U51869 PAC|XP:NP_001291 SYM|COPEB NAM|core promoter element binding protein SYN|GBF |ZF9 |BCD1 |CPBP |KLF6 |PAC1 |ST12 FNC|core promoter element binding protein REAB|This gene encodes a nuclear protein, core promoter element binding protein. This |protein has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich |central region and an acidic domain lying within the N-terminal region. The zinc |fingers of this protein are responsible for the specific DNA binding with the guanine-rich |core promoter elements. The central region might be involved in activation or posttranslational |regulatory pathways, and the acidic N-terminal domain might play an important role |in the process of transcriptional activation. This protein is expressed in several |tissues, with the highest levels in the placenta. It is a trancriptional activator, |capable of activating transcription approximately 4-fold either on homologous or |heterologous promoters. The DNA binding and transcriptional activity of this protein, |in conjunction with its expression pattern, suggests that this protein may participate |in the regulation and/or maintenance of the basal expression of pregnancy-specific |glycoprotein gene and possibly other TATA box-less genes. CHR|10 PRD|B cell-derived 1 |B-cell derived 1 |protooncogene BCD1 |kruppel-like factor 6 |prostate adenocarcinoma-1 |suppression of tumorigenicity 12 (prostate) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=285313 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1316[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9120625 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001300 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001300 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=285313 DBL|UNIGENE:Hs.285313 |OMIM:602053 |SNP:1316 MAP|10p15 HG|species == rat; score == 449; expect == 1e-126; MEOW:ref|NP_113830.1| (93%) |species == Mouse; gene == Copeb; score == 444; expect == 1e-125; MEOW:MGgn0001555 (91%) |species == Human; gene == KLF7; score == 256; expect == 1.1e-68; MEOW:HUgn0008609 (48%) |species == Mosquito; score == 193; expect == 1.1e-50; MEOW:AGgn0015135 (87%) |species == Fruitfly; gene == Klf; score == 192; expect == 1.3e-49; MEOW:FBgn0040765 (83%) |species == Zfish; gene == klf12; score == 173; expect == 1.3e-43; MEOW:ZFgn0002340 (73%) |species == Worm; gene == F56F11.3; score == 164; expect == 4.5e-41; MEOW:CEgn0012147 (70%) |species == Mosquito; gene == LOC2471; score == 163; expect == 1.5e-41; MEOW:AGgn0002471 (79%) |species == Fruitfly; gene == CG12029; score == 163; expect == 1.5e-41; MEOW:FBgn0035454 (79%) |species == Mosquito; gene == LOC15582; score == 160; expect == 1.3e-40; MEOW:AGgn0015582 (79%) |species == Zfish; gene == klf2a; score == 159; expect == 1.6e-39; MEOW:ZFgn0002338 (74%) |species == Fruitfly; gene == CG9895; score == 158; expect == 1.6e-39; MEOW:FBgn0034810 (68%) |species == Zfish; gene == klf4; score == 157; expect == 1.3e-38; MEOW:ZFgn0002019 (75%) |species == Zfish; gene == klf2b; score == 157; expect == 1.1e-38; MEOW:ZFgn0002339 (73%) |species == Worm; gene == F53F8.1; score == 156; expect == 1.9e-38; MEOW:CEgn0011652 (64%) |species == Zfish; gene == klfd; score == 154; expect == 3.7e-39; MEOW:ZFgn0000185 (75%) |species == Worm; gene == mua-1; score == 147; expect == 7.2e-36; MEOW:CEgn0002108 (50%) } # EOR GENR { RETE|ID 1 HUgn0001317 CHR 1 9 DID 1 LocusLink:1317 MAP 1 9q31-q32 NAM 1 solute carrier family 31 (copper transporters), member 1 ORG 1 Homo sapiens SYM 1 SLC31A1 ID|HUgn0001317 DID|LocusLink:1317 ORG|Homo sapiens RSQ|REFSEQ:NM_001859 RPA|REFPROT:NP_001850 DBA|XM:NM_001859 |NA:AK129613 |NA:AL831843 |NA:BC004315 |NA:BC013611 |NA:U83460 |NA:none PAC|XP:NP_001850 SYM|SLC31A1 NAM|solute carrier family 31 (copper transporters), member 1 SYN|CTR1 |COPT1 FNC|solute carrier family 31 (copper transporters), member 1 |copper ion transport ; GO:0006825 |transport ; GO:0006810 CHR|9 PRD|hCTR1 |copper transporter 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414471 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1317[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9114494 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001859 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001859 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=414471 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA118 DBL|UNIGENE:Hs.414471 |OMIM:603085 |SNP:1317 MAP|9q31-q32 ENZ|copper ion transporter activity ; GO:0005375 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 318; expect == 1.1e-87; MEOW:ref|NP_598284.1| (91%) |species == Mouse; gene == Slc31a1; score == 290; expect == 2.8e-79; MEOW:MGgn0010978 (83%) |species == Human; gene == LOC339858; score == 289; expect == 7.1e-79; MEOW:HUgn0339858 (86%) |species == Fruitfly; gene == CG3977; score == 133; expect == 3.0e-32; MEOW:FBgn0029886 (47%) } # EOR GENR { RETE|ID 1 HUgn0001318 CHR 1 9 DID 1 LocusLink:1318 MAP 1 9q31-q32 NAM 1 solute carrier family 31 (copper transporters), member 2 ORG 1 Homo sapiens SYM 1 SLC31A2 ID|HUgn0001318 DID|LocusLink:1318 ORG|Homo sapiens RSQ|REFSEQ:NM_001860 RPA|REFPROT:NP_001851 DBA|XM:NM_001860 |NA:AK057903 |NA:AK131071 |NA:BC026252 |NA:U83461 |NA:none PAC|XP:NP_001851 SYM|SLC31A2 NAM|solute carrier family 31 (copper transporters), member 2 SYN|CTR2 |COPT2 |SLC13A2 FNC|solute carrier family 31 (copper transporters), member 2 |copper ion transport ; GO:0006825 |transport ; GO:0006810 CHR|9 PRD|hCTR2 |copper transporter 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24030 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1318[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9114795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001860 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001860 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=24030 DBL|UNIGENE:Hs.24030 |OMIM:603088 |SNP:1318 MAP|9q31-q32 ENZ|copper ion transporter activity ; GO:0005375 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 200; expect == 1.9e-52; MEOW:ref|XP_216413.1| (80%) |species == Mouse; gene == Slc31a2; score == 195; expect == 5.4e-51; MEOW:MGgn0010979 (78%) } # EOR GENR { RETE|ID 1 HUgn0001319 CHR 1 18 DID 1 LocusLink:1319 MAP 1 18q21.1-q21.3 NAM 1 cone rod dystrophy 1 (autosomal dominant) ORG 1 Homo sapiens SYM 1 CORD1 ID|HUgn0001319 DID|LocusLink:1319 ORG|Homo sapiens SYM|CORD1 NAM|cone rod dystrophy 1 (autosomal dominant) SYN|CORD |CRD1 CHR|18 DBL|OMIM:600624 MAP|18q21.1-q21.3 PHP|Cone-rod retinal dystrophy-1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118773 } # EOR GENR { RETE|ID 1 HUgn0001321 CHR 1 17 DID 1 LocusLink:1321 MAP 1 17q NAM 1 cone rod dystrophy 4 ORG 1 Homo sapiens SYM 1 CORD4 ID|HUgn0001321 DID|LocusLink:1321 ORG|Homo sapiens SYM|CORD4 NAM|cone rod dystrophy 4 CHR|17 MAP|17q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568477 } # EOR GENR { RETE|ID 1 HUgn0001322 CHR 1 17 DID 1 LocusLink:1322 MAP 1 17p13-p12 NAM 1 cone rod dystrophy 5 ORG 1 Homo sapiens SYM 1 CORD5 ID|HUgn0001322 DID|LocusLink:1322 ORG|Homo sapiens SYM|CORD5 NAM|cone rod dystrophy 5 CHR|17 DBL|OMIM:600977 MAP|17p13-p12 PHP|Cone dystrophy, progressive URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568473 |http://www.geneclinics.org/query?mim=600977 } # EOR GENR { RETE|ID 1 HUgn0001324 CHR 1 6 DID 1 LocusLink:1324 MAP 1 6q NAM 1 cone rod dystrophy 7 ORG 1 Homo sapiens SYM 1 CORD7 ID|HUgn0001324 DID|LocusLink:1324 ORG|Homo sapiens SYM|CORD7 NAM|cone rod dystrophy 7 CHR|6 DBL|OMIM:603649 MAP|6q PHP|Cone-rod dystrophy-7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834073 } # EOR GENR { RETE|ID 1 HUgn0001325 CHR 1 1 DID 1 LocusLink:1325 MAP 1 1p36 NAM 1 cortistatin ORG 1 Homo sapiens SYM 1 CORT ID|HUgn0001325 DID|LocusLink:1325 ORG|Homo sapiens RSQ|REFSEQ:NM_001302 RPA|REFPROT:NP_001293 DBA|XM:NM_001302 |NA:AB000263 |NA:AF013252 |NA:none PAC|XP:NP_001293 SYM|CORT NAM|cortistatin FNC|cortistatin |G-protein signaling, adenylate cyclase inhibiting pathway ; GO:0007193 |synaptic transmission ; GO:0007268 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412311 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1325[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6108058 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001302 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001302 DBL|UNIGENE:Hs.412311 |OMIM:602784 |SNP:1325 MAP|1p36 ENZ|neuropeptide hormone activity ; GO:0005184 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001326 CHR 1 10 DID 1 LocusLink:1326 MAP 1 10p12.1 NAM 1 mitogen-activated protein kinase kinase kinase 8 ORG 1 Homo sapiens SYM 1 MAP3K8 ID|HUgn0001326 DID|LocusLink:1326 ORG|Homo sapiens RSQ|REFSEQ:NM_005204 RPA|REFPROT:NP_005195 DBA|XM:NM_005204 |NA:AL547407 |NA:D14497 |NA:Z14138 |NA:none PAC|XP:NP_005195 SYM|MAP3K8 NAM|mitogen-activated protein kinase kinase kinase 8 SYN|COT |EST |ESTF |TPL2 |Tpl-2 |c-COT FNC|mitogen-activated protein kinase kinase kinase 8 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 REAB|This gene was identified by its oncogenic transforming activity in cells. The encoded |protein is a member of the serine/threonine protein kinase family. This kinase can |activate both the MAP kinase and JNK kinase pathways. This kinase was shown to activate |IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This kinase |was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte |activation. Studies of a similar gene in rat suggested the direct involvement of |this kinase in the proteolysis of NF-kappaB1,p105 (NFKB1). This gene may also utilize |a downstream in-frame translation start codon, and thus produce an isoform containing |a shorter N-terminus. The shorter isoform has been shown to display weaker transforming |activity. CHR|10 PRD|tumor progression locus-2 |Ewing sarcoma transformant |Cancer Osaka thyroid oncogene |cot (cancer Osaka thyroid) oncogene |proto-oncogene serine/threoine protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432453 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1326[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134538 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005204 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005204 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.432453 |OMIM:191195 |SNP:1326 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|10p12.1 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Map3k8; score == 899; expect == 0.0; MEOW:MGgn0007384 (93%) |species == rat; score == 874; expect == 0.0; MEOW:ref|NP_446299.1| (94%) |species == Human; gene == MST4; score == 144; expect == 1.0e-34; MEOW:HUgn0051765 (35%) |species == Weed; gene == At3g06030; score == 142; expect == 5.2e-34; MEOW:ATgn0016096 (33%) |species == Human; gene == STK24; score == 142; expect == 5.2e-34; MEOW:HUgn0008428 (35%) |species == Weed; gene == At1g53165; score == 141; expect == 1.2e-33; MEOW:ATgn0027129 (35%) |species == Weed; gene == At3g15220; score == 139; expect == 3.4e-33; MEOW:ATgn0013359 (35%) |species == Weed; gene == At1g09000; score == 137; expect == 1.7e-32; MEOW:ATgn0002929 (34%) |species == rice; score == 136; expect == 8.2e-32; MEOW:gnl|TIGR|8357.m01828 (34%) |species == Human; gene == STK25; score == 135; expect == 4.9e-32; MEOW:HUgn0010494 (35%) |species == Weed; gene == At1g54960; score == 133; expect == 1.9e-31; MEOW:ATgn0000812 (34%) |species == Worm; gene == gck-1; score == 132; expect == 2.8e-31; MEOW:CEgn0029656 (32%) |species == Fruitfly; gene == CG5169; score == 131; expect == 4.1e-31; MEOW:FBgn0038477 (29%) |species == Human; gene == MAP3K14; score == 131; expect == 9.2e-31; MEOW:HUgn0009020 (30%) } # EOR GENR { RETE|ID 1 HUgn0001327 CHR 1 16 DID 1 LocusLink:1327 MAP 1 16q22-qter NAM 1 cytochrome c oxidase subunit IV isoform 1 ORG 1 Homo sapiens SYM 1 COX4I1 ID|HUgn0001327 DID|LocusLink:1327 ORG|Homo sapiens RSQ|REFSEQ:NM_001861 RPA|REFPROT:NP_001852 DBA|XM:NM_001861 |NA:AF005889 |NA:AF017115 |NA:AF042746 |NA:BC008704 |NA:BC021236 |NA:BC039013 |NA:BC047869 |NA:M21575 |NA:M34600 |NA:U90915 |NA:X54802 |NA:none PAC|XP:NP_001852 SYM|COX4I1 NAM|cytochrome c oxidase subunit IV isoform 1 SYN|COX4 |COXIV FNC|cytochrome c oxidase subunit IV isoform 1 precursor |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory |chain. It is a multi-subunit enzyme complex that couples the transfer of electrons |from cytochrome c to molecular oxygen and contributes to a proton electrochemical |gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- |and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron |transfer and proton pumping activities. The functions of the nuclear-encoded subunits |are unknown but they may play a role in the regulation and assembly of the complex. |This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial |respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) |gene in a head-to-head orientation, and shares a promoter with it. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433419 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1327[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119068 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001861 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001861 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433419 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1327 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.433419 |OMIM:123864 |SNP:1327 MAP|16q22-qter ENZ|cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 |inner membrane ; GO:0019866 HG|species == chimp; score == 299; expect == 1.0e-83; MEOW:sp|O46577|CX41_PANTR (100%) |species == rat; score == 289; expect == 4.4e-79; MEOW:ref|NP_058898.1| (79%) |species == Mouse; gene == Cox4i1; score == 284; expect == 1.2e-77; MEOW:MGgn0001574 (78%) |species == Human; gene == LOC122867; score == 237; expect == 2.0e-63; MEOW:HUgn0122867 (75%) |species == Mosquito; gene == LOC15816; score == 129; expect == 3.4e-31; MEOW:AGgn0015816 (44%) |species == Mosquito; score == 129; expect == 3.4e-31; MEOW:AGgn0026718 (44%) } # EOR GENR { RETE|ID 1 HUgn0001328 CHR 1 14 DID 1 LocusLink:1328 MAP 1 14q21-qter NAM 1 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 ORG 1 Homo sapiens SYM 1 COX4I1P1 ID|HUgn0001328 DID|LocusLink:1328 CLA|Pseudogene ORG|Homo sapiens SYM|COX4I1P1 NAM|cytochrome c oxidase subunit IV isoform 1 pseudogene 1 SYN|COX4L1 |COX4P1 CHR|14 PRD|cytochrome c oxidase subunit IV pseudogene 1 MAP|14q21-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119067 } # EOR GENR { RETE|ID 1 HUgn0001329 CHR 1 2 DID 1 LocusLink:1329 MAP 1 2cen-q13 NAM 1 cytochrome c oxidase subunit Vb ORG 1 Homo sapiens SYM 1 COX5B ID|HUgn0001329 DID|LocusLink:1329 ORG|Homo sapiens RSQ|REFSEQ:NM_001862 RPA|REFPROT:NP_001853 DBA|XM:NM_001862 |NA:M59250 |NA:U41284 |NA:BC006229 |NA:M19961 |NA:none PAC|XP:NP_001853 SYM|COX5B NAM|cytochrome c oxidase subunit Vb SYN|COXVB FNC|cytochrome c oxidase subunit Vb precursor |electron transport ; GO:0006118 |respiratory gaseous exchange ; GO:0007585 REAB|Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory |chain. It is a multi-subunit enzyme complex that couples the transfer of electrons |from cytochrome c to molecular oxygen and contributes to a proton electrochemical |gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- |and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron |transfer and proton pumping activities. The functions of the nuclear-encoded subunits |are unknown but they may play a role in the regulation and assembly of the complex. |This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory |chain enzyme. CHR|2 PRD|cytochrome c oxidase polypeptide VB, mitochondrial precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1342 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1329[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127530 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001862 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001862 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1342 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1329 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.1342 |OMIM:123866 |SNP:1329 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|2cen-q13 CEL|mitochondrial membrane ; GO:0005740 |inner membrane ; GO:0019866 HG|species == rat; score == 228; expect == 4.9e-61; MEOW:ref|NP_446038.1| (81%) |species == Mouse; gene == Cox5b; score == 200; expect == 1.3e-52; MEOW:MGgn0001576 (82%) } # EOR GENR { RETE|ID 1 HUgn0001330 CHR 1 4 DID 1 LocusLink:1330 MAP 1 4q21.3 NAM 1 cytochrome c oxidase subunit Vb-like 1 ORG 1 Homo sapiens SYM 1 COX5BL1 ID|HUgn0001330 DID|LocusLink:1330 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC021863 SYM|COX5BL1 NAM|cytochrome c oxidase subunit Vb-like 1 CHR|4 MAP|4q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127531 } # EOR GENR { RETE|ID 1 HUgn0001331 CHR 1 6 DID 1 LocusLink:1331 MAP 1 6 NAM 1 cytochrome c oxidase subunit Vb-like 2 ORG 1 Homo sapiens SYM 1 COX5BL2 ID|HUgn0001331 DID|LocusLink:1331 ORG|Homo sapiens SYM|COX5BL2 NAM|cytochrome c oxidase subunit Vb-like 2 CHR|6 MAP|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127532 } # EOR GENR { RETE|ID 1 HUgn0001332 CHR 1 7 DID 1 LocusLink:1332 MAP 1 7 NAM 1 cytochrome c oxidase subunit Vb-like 3 ORG 1 Homo sapiens SYM 1 COX5BL3 ID|HUgn0001332 DID|LocusLink:1332 ORG|Homo sapiens SYM|COX5BL3 NAM|cytochrome c oxidase subunit Vb-like 3 CHR|7 MAP|7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127533 } # EOR GENR { RETE|ID 1 HUgn0001333 CHR 1 11 DID 1 LocusLink:1333 MAP 1 11q NAM 1 cytochrome c oxidase subunit Vb-like 4 ORG 1 Homo sapiens SYM 1 COX5BL4 ID|HUgn0001333 DID|LocusLink:1333 ORG|Homo sapiens SYM|COX5BL4 NAM|cytochrome c oxidase subunit Vb-like 4 CHR|11 MAP|11q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127534 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 } # EOR GENR { RETE|ID 1 HUgn0001334 CHR 1 12 DID 1 LocusLink:1334 MAP 1 12 NAM 1 cytochrome c oxidase subunit Vb-like 5 ORG 1 Homo sapiens SYM 1 COX5BL5 ID|HUgn0001334 DID|LocusLink:1334 ORG|Homo sapiens SYM|COX5BL5 NAM|cytochrome c oxidase subunit Vb-like 5 CHR|12 MAP|12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127535 } # EOR GENR { RETE|ID 1 HUgn0001335 CHR 1 13 DID 1 LocusLink:1335 MAP 1 13 NAM 1 cytochrome c oxidase subunit Vb-like 6 ORG 1 Homo sapiens SYM 1 COX5BL6 ID|HUgn0001335 DID|LocusLink:1335 ORG|Homo sapiens SYM|COX5BL6 NAM|cytochrome c oxidase subunit Vb-like 6 CHR|13 MAP|13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127536 } # EOR GENR { RETE|ID 1 HUgn0001336 CHR 1 22 DID 1 LocusLink:1336 MAP 1 22q13.1 NAM 1 cytochrome c oxidase subunit Vb-like 7 ORG 1 Homo sapiens SYM 1 COX5BL7 ID|HUgn0001336 DID|LocusLink:1336 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL031846 SYM|COX5BL7 NAM|cytochrome c oxidase subunit Vb-like 7 CHR|22 MAP|22q13.1 DBL|SNP:1336 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127537 } # EOR GENR { RETE|ID 1 HUgn0001337 CHR 1 12 DID 1 LocusLink:1337 MAP 1 12q24.2 NAM 1 cytochrome c oxidase subunit VIa polypeptide 1 ORG 1 Homo sapiens SYM 1 COX6A1 ID|HUgn0001337 DID|LocusLink:1337 ORG|Homo sapiens RSQ|REFSEQ:NM_004373 RPA|REFPROT:NP_004364 DBA|XM:NM_004373 |NA:AL021546 |NA:U83702 |NA:AF020589 |NA:BC007723 |NA:X15341 |NA:none PAC|XP:NP_004364 SYM|COX6A1 NAM|cytochrome c oxidase subunit VIa polypeptide 1 SYN|COX6A |COX6AL FNC|cytochrome c oxidase subunit VIa polypeptide 1 precursor |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is |a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial |genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded |subunits function in the electron transfer and the nuclear-encoded subunits may |function in the regulation and assembly of the complex. This nuclear gene encodes |polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all |non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded |by a different gene, and is present only in striated muscles. These two polypeptides |share 66% amino acid sequence identity. It has been reported that there may be several |pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene |(COX6A1P) on chromosome 1p31.1 has been documented. CHR|12 PRD|cytochrome C oxidase subunit VIa homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=180714 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=497118 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1337[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118774 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004373 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004373 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=180714 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=497118 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.180714 |UNIGENE:Hs.497118 |OMIM:602072 |SNP:1337 ENZ|EC:1.9.3.1 MAP|12q24.2 HG|species == Human; gene == LOC285849; score == 229; expect == 2.2e-61; MEOW:HUgn0285849 (98%) |species == rat; score == 199; expect == 1.9e-52; MEOW:ref|XP_341095.1| (83%) |species == Mouse; gene == Cox6a1; score == 183; expect == 1.2e-47; MEOW:MGgn0001578 (89%) } # EOR GENR { RETE|ID 1 HUgn0001338 CHR 1 1 DID 1 LocusLink:1338 MAP 1 1p31.1 NAM 1 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene ORG 1 Homo sapiens SYM 1 COX6A1P ID|HUgn0001338 DID|LocusLink:1338 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U82486 SYM|COX6A1P NAM|cytochrome c oxidase subunit VIa polypeptide 1 pseudogene CHR|1 MAP|1p31.1 DBL|SNP:1338 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5302685 } # EOR GENR { RETE|ID 1 HUgn0001339 CHR 1 16 DID 1 LocusLink:1339 MAP 1 16p NAM 1 cytochrome c oxidase subunit VIa polypeptide 2 ORG 1 Homo sapiens SYM 1 COX6A2 ID|HUgn0001339 DID|LocusLink:1339 ORG|Homo sapiens RSQ|REFSEQ:NM_005205 RPA|REFPROT:NP_005196 DBA|XM:NM_005205 |NA:U66875 |NA:BC029818 |NA:F27891 |NA:M83308 |NA:none PAC|XP:NP_005196 SYM|COX6A2 NAM|cytochrome c oxidase subunit VIa polypeptide 2 SYN|COX6AH |COXVIAH FNC|cytochrome c oxidase subunit VIa polypeptide 2 precursor |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is |a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial |genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded |subunits function in electron transfer, and the nuclear-encoded subunits may be |involved in the regulation and assembly of the complex. This nuclear gene encodes |polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present |only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded |by a different gene, and is found in all non-muscle tissues. These two polypeptides |share 66% amino acid sequence identity. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250760 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1339[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136189 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005205 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005205 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=250760 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.250760 |OMIM:602009 |SNP:1339 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|16p CEL|mitochondrial membrane ; GO:0005740 |inner membrane ; GO:0019866 HG|species == Mouse; gene == Cox6a2; score == 174; expect == 8.8e-45; MEOW:MGgn0001579 (79%) |species == rat; score == 156; expect == 1.5e-39; MEOW:ref|NP_036944.1| (79%) } # EOR GENR { RETE|ID 1 HUgn0001340 CHR 1 19 DID 1 LocusLink:1340 MAP 1 19q13.1 NAM 1 cytochrome c oxidase subunit VIb ORG 1 Homo sapiens SYM 1 COX6B ID|HUgn0001340 DID|LocusLink:1340 ORG|Homo sapiens RSQ|REFSEQ:NM_001863 RPA|REFPROT:NP_001854 DBA|XM:NM_001863 |NA:AC002115 |NA:X58139 |NA:BC001015 |NA:BC002478 |NA:D28426 |NA:X13923 |NA:X54473 |NA:none PAC|XP:NP_001854 SYM|COX6B NAM|cytochrome c oxidase subunit VIb SYN|COXG FNC|cytochrome c oxidase subunit VIb |electron transport ; GO:0006118 REAB|Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is |a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial |genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded |subunits function in electron transfer, and the nuclear-encoded subunits may be |involved in the regulation and assembly of the complex. This nuclear gene encodes |subunit VIb, which has 84% amino acid sequence identity with bovine COX subunit |VIb. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes |7, 17 and 22q13.1-13.2, respectively. CHR|19 PRD|human cytochrome oxidase subunit VIb URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=431668 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1340[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128117 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001863 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001863 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=431668 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.431668 |OMIM:124089 |SNP:1340 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|19q13.1 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cox6b; score == 172; expect == 1.7e-44; MEOW:MGgn0001580 (84%) |species == rat; score == 147; expect == 6.9e-37; MEOW:ref|XP_344880.1| (88%) } # EOR GENR { RETE|ID 1 HUgn0001341 DID 1 LocusLink:1341 NAM 1 cytochrome c oxidase subunit VIb pseudogene 1 (HCOX52) ORG 1 Homo sapiens SYM 1 COX6BP1 ID|HUgn0001341 DID|LocusLink:1341 CLA|Pseudogene ORG|Homo sapiens SYM|COX6BP1 NAM|cytochrome c oxidase subunit VIb pseudogene 1 (HCOX52) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128831 } # EOR GENR { RETE|ID 1 HUgn0001342 DID 1 LocusLink:1342 NAM 1 cytochrome c oxidase subunit VIb pseudogene 2 ORG 1 Homo sapiens SYM 1 COX6BP2 ID|HUgn0001342 DID|LocusLink:1342 CLA|Pseudogene ORG|Homo sapiens SYM|COX6BP2 NAM|cytochrome c oxidase subunit VIb pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128832 } # EOR GENR { RETE|ID 1 HUgn0001343 DID 1 LocusLink:1343 NAM 1 cytochrome c oxidase subunit VIb pseudogene 3 ORG 1 Homo sapiens SYM 1 COX6BP3 ID|HUgn0001343 DID|LocusLink:1343 CLA|Pseudogene ORG|Homo sapiens SYM|COX6BP3 NAM|cytochrome c oxidase subunit VIb pseudogene 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129084 } # EOR GENR { RETE|ID 1 HUgn0001344 DID 1 LocusLink:1344 NAM 1 cytochrome c oxidase subunit VIb pseudogene 4 ORG 1 Homo sapiens SYM 1 COX6BP4 ID|HUgn0001344 DID|LocusLink:1344 CLA|Pseudogene ORG|Homo sapiens SYM|COX6BP4 NAM|cytochrome c oxidase subunit VIb pseudogene 4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129083 } # EOR GENR { RETE|ID 1 HUgn0001345 CHR 1 8 DID 1 LocusLink:1345 MAP 1 8q22-q23 NAM 1 cytochrome c oxidase subunit VIc ORG 1 Homo sapiens SYM 1 COX6C ID|HUgn0001345 DID|LocusLink:1345 ORG|Homo sapiens RSQ|REFSEQ:NM_004374 RPA|REFPROT:NP_004365 DBA|XM:NM_004374 |NA:AF067636 |NA:AF067637 |NA:BC000187 |NA:S82616 |NA:X13238 |NA:none PAC|XP:NP_004365 SYM|COX6C NAM|cytochrome c oxidase subunit VIc FNC|cytochrome c oxidase subunit VIc proprotein |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is |a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial |genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded |subunits function in electron transfer, and the nuclear-encoded subunits may be |involved in the regulation and assembly of the complex. This nuclear gene encodes |subunit VIc, which has 77% amino acid sequence identity with mouse COX subunit VIc. |This gene is up-regulated in prostate cancer cells. A pseudogene COX6CP1 has been |found on chromosomes 16p12. CHR|8 PRD|cytochrome c oxidase subunit VIc preprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=351875 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1345[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118775 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004374 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004374 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=351875 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1345 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.351875 |OMIM:124090 |SNP:1345 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|8q22-q23 CEL|mitochondrion ; GO:0005739 |inner membrane ; GO:0019866 } # EOR GENR { RETE|ID 1 HUgn0001346 CHR 1 19 DID 1 LocusLink:1346 MAP 1 19q13.1 NAM 1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) ORG 1 Homo sapiens SYM 1 COX7A1 ID|HUgn0001346 DID|LocusLink:1346 ORG|Homo sapiens RSQ|REFSEQ:NM_001864 RPA|REFPROT:NP_001855 DBA|XM:NM_001864 |NA:AC002984 |NA:AD001527 |NA:AF037372 |NA:AF127789 |NA:U81524 |NA:BC002757 |NA:M83186 |NA:none PAC|XP:NP_001855 SYM|COX7A1 NAM|cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) SYN|COX7A |COX7AH |COX7AM FNC|cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) precursor |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide |1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present |in both muscle and nonmuscle tissues, and are encoded by different genes. CHR|19 PRD|cytochrome c oxidase subunit VIIa heart/muscle isoform URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421621 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1346[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118776 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001864 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001864 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421621 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1346 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.421621 |OMIM:123995 |SNP:1346 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|19q13.1 CEL|mitochondrion ; GO:0005739 |inner membrane ; GO:0019866 } # EOR GENR { RETE|ID 1 HUgn0001347 CHR 1 6 DID 1 LocusLink:1347 MAP 1 6q12 NAM 1 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) ORG 1 Homo sapiens SYM 1 COX7A2 ID|HUgn0001347 DID|LocusLink:1347 ORG|Homo sapiens RSQ|REFSEQ:NM_001865 RPA|REFPROT:NP_001856 DBA|XM:NM_001865 |NA:AF134406 |NA:X15822 |NA:none PAC|XP:NP_001856 SYM|COX7A2 NAM|cytochrome c oxidase subunit VIIa polypeptide 2 (liver) SYN|COX7AL |COX7AL1 |COXVIIa-L FNC|cytochrome c oxidase subunit VIIa polypeptide 2 (liver) precursor |electron transport ; GO:0006118 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes polypeptide 2 (liver isoform) of subunit VIIa and the polypeptide 2 |is present in both muscle and nonmuscle tissues. In addition to polypeptide 2, subunit |VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, |and a related protein, present in all tissues. This gene may have several pseudogenes. CHR|6 PRD|hepatic cytochrome-c oxidase chain VIIa URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=70312 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1347[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001865 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001865 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1347 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.70312 |OMIM:123996 |SNP:1347 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|6q12 CEL|mitochondrion ; GO:0005739 |inner membrane ; GO:0019866 HG|species == Human; gene == COX7A3; score == 144; expect == 5.6e-36; MEOW:HUgn0001348 (90%) |species == rat; score == 137; expect == 7.2e-34; MEOW:ref|NP_071948.1| (81%) |species == Mouse; gene == Cox7a2; score == 136; expect == 1.4e-33; MEOW:MGgn0001583 (81%) } # EOR GENR { RETE|ID 1 HUgn0001348 CHR 1 4 DID 1 LocusLink:1348 MAP 1 4q22.3 NAM 1 cytochrome c oxidase subunit VIIa polypeptide 3 (liver) ORG 1 Homo sapiens SYM 1 COX7A3 ID|HUgn0001348 DID|LocusLink:1348 ORG|Homo sapiens RSQ|REFSEQ:NM_183003 RPA|REFPROT:NP_892115 DBA|XM:NM_183003 |NA:AC004544 |NA:none PAC|XP:NP_892115 SYM|COX7A3 NAM|cytochrome c oxidase subunit VIIa polypeptide 3 (liver) SYN|COX7AL2 FNC|cytochrome c oxidase subunit VIIa polypeptide 3 (liver) |electron transport ; GO:0006118 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=453052 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135980 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183003 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183003 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1348 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.453052 |OMIM:123997 |SNP:1348 MAP|4q22.3 ENZ|cytochrome-c oxidase activity ; GO:0004129 |electron transporter activity ; GO:0005489 CEL|mitochondrion ; GO:0005739 HG|species == Human; gene == COX7A2; score == 144; expect == 5.6e-36; MEOW:HUgn0001347 (90%) |species == rat; score == 128; expect == 4.2e-31; MEOW:ref|NP_071948.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0001349 CHR 1 X DID 1 LocusLink:1349 MAP 1 Xq13.3 NAM 1 cytochrome c oxidase subunit VIIb ORG 1 Homo sapiens SYM 1 COX7B ID|HUgn0001349 DID|LocusLink:1349 ORG|Homo sapiens RSQ|REFSEQ:NM_001866 RPA|REFPROT:NP_001857 DBA|XM:NM_001866 |NA:BC018386 |NA:Z14244 |NA:none PAC|XP:NP_001857 SYM|COX7B NAM|cytochrome c oxidase subunit VIIb FNC|cytochrome c oxidase subunit VIIb precursor REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and |is found in all tissues. This gene may have several pseudogenes on chromosomes 1, |2, 20 and 22, respectively. CHR|X PRD|cytochrome-c oxidase chain VIIb URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432170 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1349[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138315 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001866 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001866 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=432170 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26809 DBL|UNIGENE:Hs.432170 |OMIM:603792 |SNP:1349 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|Xq13.3 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cox7b; score == 142; expect == 1.9e-35; MEOW:MGgn0015720 (78%) |species == Human; gene == COX7B2; score == 131; expect == 8.9e-32; MEOW:HUgn0170712 (70%) } # EOR GENR { RETE|ID 1 HUgn0001350 CHR 1 5 DID 1 LocusLink:1350 MAP 1 5q14 NAM 1 cytochrome c oxidase subunit VIIc ORG 1 Homo sapiens SYM 1 COX7C ID|HUgn0001350 DID|LocusLink:1350 ORG|Homo sapiens RSQ|REFSEQ:NM_001867 RPA|REFPROT:NP_001858 DBA|XM:NM_001867 |NA:AF067638 |NA:AF067639 |NA:AK026505 |NA:BC001005 |NA:BC007498 |NA:X16560 |NA:none PAC|XP:NP_001858 SYM|COX7C NAM|cytochrome c oxidase subunit VIIc FNC|cytochrome c oxidase subunit VIIc precursor |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity |with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene |COX7CP1 has been found on chromosome 13. CHR|5 PRD|cytochrome-c oxidase chain VIIc URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430075 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1350[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128569 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001867 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001867 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=430075 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.430075 |OMIM:603774 |SNP:1350 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|5q14 CEL|mitochondrion ; GO:0005739 HG|species == chimp; score == 131; expect == 1.3e-33; MEOW:sp|BAB86871|BAB86871 (100%) } # EOR GENR { RETE|ID 1 HUgn0001351 CHR 1 11 DID 1 LocusLink:1351 MAP 1 11q12-q13 NAM 1 cytochrome c oxidase subunit VIII ORG 1 Homo sapiens SYM 1 COX8 ID|HUgn0001351 DID|LocusLink:1351 ORG|Homo sapiens RSQ|REFSEQ:NM_004074 RPA|REFPROT:NP_004065 DBA|XM:NM_004074 |NA:J04823 |NA:none PAC|XP:NP_004065 SYM|COX8 NAM|cytochrome c oxidase subunit VIII SYN|COX VIII FNC|cytochrome c oxidase subunit VIII |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|Cytochrome c oxidase (COX; EC 1.9.3.1) is the terminal enzyme of the respiratory |chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, |with the concomitant production of a proton electrochemical gradient across the |inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, |which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded |smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. |The function of the nuclear-encoded subunits is not known, although it has been |proposed that they may be involved in the modulation of the catalytic function. |COX subunit VIII is one of the nuclear-encoded polypeptides. In mammals, it exists |in at least two isoforms, because different but related polypeptides have been identified |in COX isolated from liver and heart of both beef and pig. However, it appears |that primates have only one form of COX VIII, as the amino acid sequence of subunit |VIII purified from human heart is identical to the polypeptide deduced from COX |VIII cDNA from human liver. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433901 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1351[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119796 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004074 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004074 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1351 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.433901 |OMIM:123870 |SNP:1351 ENZ|EC:1.9.3.1 |cytochrome-c oxidase activity ; GO:0004129 |oxidoreductase activity ; GO:0016491 MAP|11q12-q13 CEL|mitochondrion ; GO:0005739 HG|species == chimp; score == 138; expect == 1.0e-35; MEOW:sp|Q8SPF1|Q8SPF1 (98%) } # EOR GENR { RETE|ID 1 HUgn0001352 CHR 1 17 DID 1 LocusLink:1352 MAP 1 17p12-17p11.2 NAM 1 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) ORG 1 Homo sapiens SYM 1 COX10 ID|HUgn0001352 DID|LocusLink:1352 ORG|Homo sapiens RSQ|REFSEQ:NM_001303 RPA|REFPROT:NP_001294 DBA|XM:NM_001303 |NA:U82004 |NA:U82010 |NA:BC000060 |NA:BC006394 |NA:BT006985 |NA:U09466 |NA:none PAC|XP:NP_001294 SYM|COX10 NAM|COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) FNC|heme A:farnesyltransferase |heme biosynthesis ; GO:0006783 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes heme A:farnesyltransferase, which is not a structural subunit but required |for the expression of functional COX and functions in the maturation of the heme |A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane |domains localized in the mitochondrial inner membrane. A gene mutation, which results |in the substitution of a lysine for an asparagine (N204K), is identified to be responsible |for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients |with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy |with liability to pressure palsies) deletion. CHR|17 PRD|heme A: farnesyltransferase |cytochrome c oxidase subunit X |cytochrome c oxidase assembly protein |COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77513 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1352[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386460 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001303 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001303 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77513 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00130 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03130 DBL|UNIGENE:Hs.77513 |OMIM:602125 |SNP:1352 MAP|17p12-17p11.2 PHP|Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 ENZ|protoheme IX farnesyltransferase activity ; GO:0008495 |transferase activity ; GO:0016740 HG|species == Mouse; gene == 2410004F01Rik; score == 688; expect == 0.0; MEOW:MGgn0020231 (81%) |species == Fruitfly; gene == CG5037; score == 341; expect == 4.7e-94; MEOW:FBgn0032222 (58%) |species == Mosquito; score == 258; expect == 2.0e-69; MEOW:AGgn0013941 (56%) |species == Worm; gene == Y46G5A.2; score == 221; expect == 3.5e-58; MEOW:CEgn0018783 (52%) |species == rat; score == 214; expect == 1.4e-55; MEOW:ref|XP_343911.1| (85%) |species == Yeast; gene == COX10; score == 198; expect == 7.9e-51; MEOW:SGgn0006093 (34%) |species == Weed; gene == At2g44520; score == 188; expect == 7.5e-48; MEOW:ATgn0009333 (40%) |species == rice; score == 170; expect == 1.7e-42; MEOW:gnl|TIGR|8350.m03095 (40%) } # EOR GENR { RETE|ID 1 HUgn0001353 CHR 1 17 DID 1 LocusLink:1353 MAP 1 17q22 NAM 1 COX11 homolog, cytochrome c oxidase assembly protein (yeast) ORG 1 Homo sapiens SYM 1 COX11 ID|HUgn0001353 DID|LocusLink:1353 ORG|Homo sapiens RSQ|REFSEQ:NM_004375 RPA|REFPROT:NP_004366 DBA|XM:NM_004375 |NA:AF044321 |NA:BC005895 |NA:BI598312 |NA:U79270 |NA:none PAC|XP:NP_004366 SYM|COX11 NAM|COX11 homolog, cytochrome c oxidase assembly protein (yeast) SYN|COX11P FNC|COX11 homolog |cytochrome c oxidase biogenesis ; GO:0008535 |respiratory gaseous exchange ; GO:0007585 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic |enzyme involved in COX formation, according to the yeast mutant studies. However, |the studies in Rhodobacter sphaeroides suggest that this gene is not required for |heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium |centers of COX. This human protein is predicted to contain a transmembrane domain |localized in the mitochondrial inner membrane. A pseudogene COX11P has been found |on chromosome 6. CHR|17 PRD|cytochrome c oxidase subunit 11 |cytochrome c oxidase assembly protein COX11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436988 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1353[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862900 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004375 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004375 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436988 DBL|UNIGENE:Hs.436988 |OMIM:603648 |SNP:1353 MAP|17q22 ENZ|cytochrome-c oxidase activity ; GO:0004129 |electron transporter activity ; GO:0005489 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == rat; score == 476; expect == 6e-135; MEOW:ref|XP_213433.2| (83%) |species == Mosquito; gene == LOC22656; score == 274; expect == 1.9e-74; MEOW:AGgn0022656 (66%) |species == Fruitfly; gene == CG31648; score == 266; expect == 5.4e-72; MEOW:FBgn0051648 (56%) |species == Worm; gene == JC8.5; score == 228; expect == 2.0e-60; MEOW:CEgn0012885 (58%) |species == Yeast; gene == COX11; score == 205; expect == 2.8e-53; MEOW:SGgn0006053 (54%) |species == Weed; gene == At1g02410; score == 199; expect == 1.8e-51; MEOW:ATgn0003391 (52%) |species == rice; score == 194; expect == 9.5e-50; MEOW:gnl|TIGR|8360.m04575 (51%) } # EOR GENR { RETE|ID 1 HUgn0001355 CHR 1 10 DID 1 LocusLink:1355 MAP 1 10q24 NAM 1 COX15 homolog, cytochrome c oxidase assembly protein (yeast) ORG 1 Homo sapiens SYM 1 COX15 ID|HUgn0001355 DID|LocusLink:1355 ORG|Homo sapiens RSQ|REFSEQ:NM_004376 |REFSEQ:NM_078470 RPA|REFPROT:NP_004367 |REFPROT:NP_510870 DBA|XM:NM_004376 |XM:NM_078470 |NA:AL133353 |NA:AF026850 |NA:AF044323 |NA:BC002382 |NA:BC013403 |NA:BT007129 |NA:BX413913 |NA:BX537557 PAC|XP:NP_004367 |XP:NP_510870 SYM|COX15 NAM|COX15 homolog, cytochrome c oxidase assembly protein (yeast) FNC|COX15 homolog isoform 1 precursor |COX15 homolog isoform 2 precursor |respiratory gaseous exchange ; GO:0007585 REAB|Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory |chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This |component is a heteromeric complex consisting of 3 catalytic subunits encoded by |mitochondrial genes and multiple structural subunits encoded by nuclear genes. The |mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded |subunits may function in the regulation and assembly of the complex. This nuclear |gene encodes a protein which is not a structural subunit, but may be essential for |the biogenesis of COX formation and may function in the hydroxylation of heme O, |according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane |domains localized in the mitochondrial inner membrane. Alternative splicing of this |gene generates several transcript variants diverging in the 3' region including |alternate poly A sites. In total, 2 different isoforms are encoded by these variants. CHR|10 PRD|cytochrome c oxidase subunit 15 |cytochrome c oxidase assembly protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=226581 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1355[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862902 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_078470 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_078470 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=226581 DBL|UNIGENE:Hs.226581 |OMIM:603646 |SNP:1355 MAP|10q24 PHP|Cardiomyopathy, hypertrophic, early-onset fatal ENZ|cytochrome-c oxidase activity ; GO:0004129 |electron transporter activity ; GO:0005489 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == 2900026G05Rik; score == 664; expect == 0.0; MEOW:MGgn0022131 (88%) |species == rat; score == 661; expect == 0.0; MEOW:ref|XP_219882.2| (87%) |species == Mosquito; gene == LOC13266; score == 346; expect == 9.7e-96; MEOW:AGgn0013266 (58%) |species == Fruitfly; gene == CG3803; score == 335; expect == 1.9e-92; MEOW:FBgn0034938 (53%) |species == Worm; gene == T06D8.5; score == 307; expect == 6.6e-84; MEOW:CEgn0015604 (51%) |species == rice; score == 287; expect == 1.4e-77; MEOW:gnl|TIGR|8356.m03743 (46%) |species == Weed; gene == At5g56090; score == 271; expect == 5.5e-73; MEOW:ATgn0022441 (43%) |species == Yeast; gene == COX15; score == 223; expect == 4.0e-59; MEOW:SGgn0000943 (40%) } # EOR GENR { RETE|ID 1 HUgn0001356 CHR 1 3 DID 1 LocusLink:1356 MAP 1 3q23-q25 NAM 1 ceruloplasmin (ferroxidase) ORG 1 Homo sapiens SYM 1 CP ID|HUgn0001356 DID|LocusLink:1356 ORG|Homo sapiens RSQ|REFSEQ:NM_000096 RPA|REFPROT:NP_000087 DBA|XM:NM_000096 |NA:D45044 |NA:AK095290 |NA:M13536 |NA:M13699 |NA:X04136 |NA:none PAC|XP:NP_000087 SYM|CP NAM|ceruloplasmin (ferroxidase) FNC|ceruloplasmin (ferroxidase) |iron ion homeostasis ; GO:0006879 |copper ion transport ; GO:0006825 |copper ion homeostasis ; GO:0006878 |ion transport ; GO:0006811 REAB|Ceruloplasmin is a plasma metalloprotein that that binds most of the copper in plasma. |Human ceruloplasmin is composed of a single polypeptide chain. Ceruloplasmin deficiency |leads to iron accumulation and cuases damages to a varieties of tissues and organs. CHR|3 PRD|Ceruloplasmin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1356[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119069 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000096 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000096 |http://www.geneclinics.org/query?mim=117700 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26815 DBL|UNIGENE:Hs.282557 |OMIM:117700 |SNP:1356 ENZ|EC:1.16.3.1 |ferroxidase activity ; GO:0004322 |copper ion transporter activity ; GO:0005375 |copper ion binding ; GO:0005507 |oxidoreductase activity ; GO:0016491 MAP|3q23-q25 PHP|Cerebellar ataxia |Hemosiderosis, systemic, due to aceruloplasminemia |Hypoceruloplasminemia, hereditary CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Cp; score == 1868; expect == 0.0; MEOW:MGgn0001587 (83%) |species == rat; score == 1859; expect == 0.0; MEOW:ref|XP_215541.2| (82%) |species == Human; gene == LOC341208; score == 852; expect == 0.0; MEOW:HUgn0341208 (52%) |species == Human; gene == HEPH; score == 830; expect == 0.0; MEOW:HUgn0009843 (49%) |species == Zfish; gene == cp; score == 720; expect == 0.0; MEOW:ZFgn0002165 (55%) } # EOR GENR { RETE|ID 1 HUgn0001357 CHR 1 7 DID 1 LocusLink:1357 MAP 1 7q32 NAM 1 carboxypeptidase A1 (pancreatic) ORG 1 Homo sapiens SYM 1 CPA1 ID|HUgn0001357 DID|LocusLink:1357 ORG|Homo sapiens RSQ|REFSEQ:NM_001868 RPA|REFPROT:NP_001859 DBA|XM:NM_001868 |XM:NM_001868 |NA:AK131054 |NA:BC005279 |NA:BT007313 |NA:X67318 |NA:none PAC|XP:NP_001859 |XP:NP_001859 SYM|CPA1 NAM|carboxypeptidase A1 (pancreatic) SYN|CPA FNC|pancreatic carboxypeptidase A1 precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Three different forms of human pancreatic procarboxypeptidase A have been isolated. |The A1 and A2 forms are monomeric proteins with different biochemical properties. |Carboxypeptidase A1 is a monomeric pancreatic exopeptidase. It is involved in zymogen |inhibition. CHR|7 PRD|Carboxypeptidase A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2879 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1357[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120597 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001868 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001868 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2879 DBL|UNIGENE:Hs.2879 |OMIM:114850 |SNP:1357 ENZ|EC:3.4.17.1 |carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|7q32 HG|species == rat; score == 717; expect == 0.0; MEOW:ref|NP_058694.1| (82%) |species == Mouse; gene == Cpa1; score == 693; expect == 0.0; MEOW:MGgn0001589 (81%) |species == Human; gene == CPA2; score == 533; expect == 7e-152; MEOW:HUgn0001358 (64%) |species == Human; gene == CPA5; score == 521; expect == 4e-148; MEOW:HUgn0093979 (60%) |species == Human; gene == CPA4; score == 489; expect == 1e-138; MEOW:HUgn0051200 (54%) |species == Mosquito; score == 273; expect == 1.4e-73; MEOW:AGgn0021052 (37%) |species == Worm; gene == Y18H1A.9; score == 265; expect == 5.6e-71; MEOW:CEgn0028131 (36%) |species == Mosquito; score == 258; expect == 5.5e-69; MEOW:AGgn0027710 (35%) |species == Mosquito; gene == LOC20016; score == 253; expect == 7.8e-68; MEOW:AGgn0020016 (41%) |species == Fruitfly; gene == CG18585; score == 243; expect == 1.1e-64; MEOW:FBgn0031929 (39%) |species == Zfish; gene == cpa; score == 240; expect == 2.8e-64; MEOW:ZFgn0002593 (67%) |species == Mosquito; score == 236; expect == 1.7e-62; MEOW:AGgn0029101 (34%) |species == Worm; gene == T06A4.1a; score == 236; expect == 1.2e-62; MEOW:CEgn0032459 (35%) |species == Worm; gene == T06A4.1b; score == 236; expect == 1.2e-62; MEOW:CEgn0032460 (35%) |species == Mosquito; gene == LOC19538; score == 231; expect == 4.2e-61; MEOW:AGgn0019538 (34%) |species == Worm; gene == ZC434.9; score == 231; expect == 1.1e-60; MEOW:CEgn0020670 (31%) |species == Fruitfly; gene == CG14820; score == 230; expect == 1.3e-60; MEOW:FBgn0035718 (35%) |species == Worm; gene == Y59C2A.1; score == 229; expect == 1.9e-60; MEOW:CEgn0019577 (32%) |species == Fruitfly; gene == CG3097; score == 228; expect == 2.2e-60; MEOW:FBgn0029804 (33%) |species == Fruitfly; gene == CG7025; score == 228; expect == 2.8e-60; MEOW:FBgn0031930 (38%) |species == Fruitfly; gene == CG4017; score == 228; expect == 2.8e-60; MEOW:FBgn0032143 (39%) |species == Fruitfly; gene == CG17633; score == 227; expect == 1.1e-59; MEOW:FBgn0032144 (32%) |species == Mosquito; gene == LOC16112; score == 226; expect == 1.9e-59; MEOW:AGgn0016112 (33%) |species == Worm; gene == Y47G6A.19; score == 222; expect == 1.8e-58; MEOW:CEgn0018909 (33%) |species == Fruitfly; gene == CG3108; score == 219; expect == 1.7e-57; MEOW:FBgn0029807 (32%) |species == Fruitfly; gene == CG2915; score == 197; expect == 1.3e-50; MEOW:FBgn0033241 (28%) |species == Fruitfly; gene == CG4408; score == 196; expect == 1.2e-50; MEOW:FBgn0039073 (28%) |species == Yeast; gene == ECM14; score == 176; expect == 2.9e-44; MEOW:SGgn0001174 (31%) } # EOR GENR { RETE|ID 1 HUgn0001358 CHR 1 7 DID 1 LocusLink:1358 MAP 1 7q32 NAM 1 carboxypeptidase A2 (pancreatic) ORG 1 Homo sapiens SYM 1 CPA2 ID|HUgn0001358 DID|LocusLink:1358 ORG|Homo sapiens RSQ|REFSEQ:NM_001869 RPA|REFPROT:NP_001860 DBA|XM:NM_001869 |XM:NM_001869 |NA:BC007009 |NA:BC014571 |NA:BC015140 |NA:BT007403 |NA:U19977 |NA:none PAC|XP:NP_001860 |XP:NP_001860 SYM|CPA2 NAM|carboxypeptidase A2 (pancreatic) FNC|carboxypeptidase A2 (pancreatic) |vacuolar protein catabolism ; GO:0007039 |proteolysis and peptidolysis ; GO:0006508 REAB|Three different forms of human pancreatic procarboxypeptidase A have been isolated. |The A1 and A2 forms are monomeric proteins with different biochemical properties. |The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89717 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1358[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125230 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001869 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001869 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89717 DBL|UNIGENE:Hs.89717 |OMIM:600688 |SNP:1358 ENZ|EC:3.4.17.15 |carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|7q32 HG|species == rat; score == 728; expect == 0.0; MEOW:ref|XP_216107.2| (87%) |species == Mouse; gene == Cpa4; score == 547; expect == 6e-156; MEOW:MGgn0015944 (63%) |species == Human; gene == CPA4; score == 545; expect == 2e-155; MEOW:HUgn0051200 (63%) |species == Human; gene == CPA1; score == 533; expect == 7e-152; MEOW:HUgn0001357 (64%) |species == Mouse; gene == Cpa1; score == 514; expect == 4e-146; MEOW:MGgn0001589 (61%) |species == Mouse; gene == Cpa5; score == 469; expect == 1e-132; MEOW:MGgn0023556 (52%) |species == Human; gene == CPA5; score == 466; expect == 8e-132; MEOW:HUgn0093979 (53%) |species == Worm; gene == Y18H1A.9; score == 280; expect == 1.3e-75; MEOW:CEgn0028131 (37%) |species == Mosquito; score == 272; expect == 2.8e-73; MEOW:AGgn0027710 (38%) |species == Mosquito; score == 271; expect == 5.2e-73; MEOW:AGgn0021052 (37%) |species == Worm; gene == T06A4.1a; score == 269; expect == 3.7e-72; MEOW:CEgn0032459 (37%) |species == Worm; gene == T06A4.1b; score == 269; expect == 3.9e-72; MEOW:CEgn0032460 (37%) |species == Mosquito; gene == LOC20016; score == 263; expect == 1.1e-70; MEOW:AGgn0020016 (42%) |species == Worm; gene == ZC434.9; score == 253; expect == 1.6e-67; MEOW:CEgn0020670 (34%) |species == Mosquito; score == 248; expect == 5.8e-66; MEOW:AGgn0029101 (34%) |species == Worm; gene == Y47G6A.19; score == 246; expect == 1.5e-65; MEOW:CEgn0018909 (37%) |species == Mosquito; gene == LOC19538; score == 240; expect == 1.2e-63; MEOW:AGgn0019538 (35%) |species == Fruitfly; gene == CG7025; score == 238; expect == 2.1e-63; MEOW:FBgn0031930 (36%) |species == Mosquito; gene == LOC16112; score == 233; expect == 1.2e-61; MEOW:AGgn0016112 (34%) |species == Fruitfly; gene == CG3108; score == 231; expect == 1.4e-60; MEOW:FBgn0029807 (35%) |species == Fruitfly; gene == CG4017; score == 231; expect == 2.5e-61; MEOW:FBgn0032143 (41%) |species == Zfish; gene == cpa; score == 231; expect == 2.3e-62; MEOW:ZFgn0002593 (66%) |species == Fruitfly; gene == CG18585; score == 230; expect == 1.0e-60; MEOW:FBgn0031929 (33%) |species == Mosquito; score == 228; expect == 2.7e-60; MEOW:AGgn0007330 (42%) |species == Fruitfly; gene == CG3097; score == 228; expect == 2.8e-60; MEOW:FBgn0029804 (34%) |species == Fruitfly; gene == CG8560; score == 228; expect == 6.3e-60; MEOW:FBgn0035781 (35%) |species == Mosquito; gene == LOC24923; score == 227; expect == 6.0e-60; MEOW:AGgn0024923 (36%) |species == Worm; gene == Y59C2A.1; score == 227; expect == 5.6e-60; MEOW:CEgn0019577 (35%) |species == Fruitfly; gene == CG17633; score == 220; expect == 1.4e-57; MEOW:FBgn0032144 (35%) |species == Fruitfly; gene == CG2915; score == 220; expect == 1.4e-57; MEOW:FBgn0033241 (31%) |species == Fruitfly; gene == CG14820; score == 214; expect == 9.3e-56; MEOW:FBgn0035718 (30%) |species == Fruitfly; gene == CG4408; score == 208; expect == 7.7e-54; MEOW:FBgn0039073 (30%) |species == Fruitfly; gene == CG18417; score == 198; expect == 4.2e-51; MEOW:FBgn0035780 (35%) |species == Yeast; gene == ECM14; score == 186; expect == 1.7e-47; MEOW:SGgn0001174 (31%) } # EOR GENR { RETE|ID 1 HUgn0001359 CHR 1 3 DID 1 LocusLink:1359 MAP 1 3q21-q25 NAM 1 carboxypeptidase A3 (mast cell) ORG 1 Homo sapiens SYM 1 CPA3 ID|HUgn0001359 DID|LocusLink:1359 ORG|Homo sapiens RSQ|REFSEQ:NM_001870 RPA|REFPROT:NP_001861 DBA|XM:NM_001870 |NA:M73720 |NA:BC012613 |NA:M27717 |NA:S40234 |NA:none PAC|XP:NP_001861 SYM|CPA3 NAM|carboxypeptidase A3 (mast cell) FNC|mast cell carboxypeptidase A3 precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Three different forms of human pancreatic procarboxypeptidase A have been isolated. |The A3 form, is obtained as a binary complex of a procarboxypeptidase A with a proproteinase |E. Mast cell carboxypeptidase A is a secretory granule metalloexopeptidase that |has a pH optimum in the neutral to basic range. It resembles pancreatic carboxypeptidase |A in cleaving COOH-terminal aromatic and aliphatic amino acid residues. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=646 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1359[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125231 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001870 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001870 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=646 DBL|UNIGENE:Hs.646 |OMIM:114851 |SNP:1359 ENZ|EC:3.4.17.1 |carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|3q21-q25 CEL|secretory granule ; GO:0030141 HG|species == Mouse; gene == Cpa3; score == 719; expect == 0.0; MEOW:MGgn0001590 (81%) |species == rat; score == 709; expect == 0.0; MEOW:ref|XP_342220.1| (80%) |species == Human; gene == CPB1; score == 441; expect == 4e-124; MEOW:HUgn0001360 (49%) |species == Human; gene == CPA6; score == 354; expect == 5.8e-98; MEOW:HUgn0057094 (42%) |species == Worm; gene == T06A4.1a; score == 239; expect == 1.9e-63; MEOW:CEgn0032459 (36%) |species == Worm; gene == T06A4.1b; score == 239; expect == 1.9e-63; MEOW:CEgn0032460 (36%) |species == Fruitfly; gene == CG14820; score == 238; expect == 2.7e-63; MEOW:FBgn0035718 (33%) |species == Worm; gene == Y18H1A.9; score == 236; expect == 1.2e-62; MEOW:CEgn0028131 (32%) |species == Fruitfly; gene == CG18585; score == 231; expect == 3.3e-61; MEOW:FBgn0031929 (35%) |species == Mosquito; score == 229; expect == 1.1e-60; MEOW:AGgn0007330 (39%) |species == Fruitfly; gene == CG3097; score == 228; expect == 2.1e-60; MEOW:FBgn0029804 (31%) |species == Fruitfly; gene == CG4017; score == 227; expect == 6.3e-60; MEOW:FBgn0032143 (33%) |species == Fruitfly; gene == CG2915; score == 218; expect == 3.8e-57; MEOW:FBgn0033241 (32%) |species == Fruitfly; gene == CG7025; score == 217; expect == 5.0e-57; MEOW:FBgn0031930 (31%) |species == Fruitfly; gene == CG17633; score == 217; expect == 5.0e-57; MEOW:FBgn0032144 (31%) |species == Mosquito; score == 215; expect == 2.3e-56; MEOW:AGgn0021052 (31%) |species == Mosquito; gene == LOC16112; score == 214; expect == 5.2e-56; MEOW:AGgn0016112 (31%) |species == Mosquito; score == 207; expect == 4.9e-54; MEOW:AGgn0029101 (31%) |species == Fruitfly; gene == CG3108; score == 206; expect == 1.1e-53; MEOW:FBgn0029807 (31%) |species == Worm; gene == T06A4.3; score == 204; expect == 1.3e-52; MEOW:CEgn0015574 (31%) |species == Mosquito; gene == LOC19538; score == 201; expect == 4.6e-52; MEOW:AGgn0019538 (31%) |species == Worm; gene == Y59C2A.1; score == 201; expect == 3.3e-52; MEOW:CEgn0019577 (31%) |species == Mosquito; gene == LOC20016; score == 200; expect == 6.0e-52; MEOW:AGgn0020016 (36%) |species == Mosquito; score == 200; expect == 1.4e-51; MEOW:AGgn0027710 (30%) |species == Worm; gene == ZC434.9; score == 198; expect == 1.0e-50; MEOW:CEgn0020670 (28%) |species == Fruitfly; gene == CG4408; score == 196; expect == 1.2e-50; MEOW:FBgn0039073 (28%) |species == Worm; gene == Y47G6A.19; score == 193; expect == 1.2e-49; MEOW:CEgn0018909 (30%) |species == Mosquito; gene == LOC24923; score == 189; expect == 1.8e-48; MEOW:AGgn0024923 (34%) |species == Mosquito; gene == LOC20553; score == 186; expect == 1.2e-47; MEOW:AGgn0020553 (27%) |species == Yeast; gene == ECM14; score == 186; expect == 2.2e-47; MEOW:SGgn0001174 (28%) |species == Zfish; gene == cpa; score == 161; expect == 1.3e-40; MEOW:ZFgn0002593 (45%) } # EOR GENR { RETE|ID 1 HUgn0001360 CHR 1 3 DID 1 LocusLink:1360 MAP 1 3q24 NAM 1 carboxypeptidase B1 (tissue) ORG 1 Homo sapiens SYM 1 CPB1 ID|HUgn0001360 DID|LocusLink:1360 ORG|Homo sapiens RSQ|REFSEQ:NM_001871 RPA|REFPROT:NP_001862 DBA|XM:NM_001871 |NA:AJ224866 |NA:BC015338 |NA:BT009910 |NA:M81057 |NA:none PAC|XP:NP_001862 SYM|CPB1 NAM|carboxypeptidase B1 (tissue) SYN|PASP |PCPB FNC|pancreatic carboxypeptidase B1 precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Three different procarboxypeptidases A and two different procarboxypeptidases B have |been isolated. The B1 and B2 forms differ from each other mainly in isoelectric |point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum |marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not |elevated in pancreatic carcinoma. CHR|3 PRD|pancreas-specific protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437028 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1360[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132160 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001871 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001871 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437028 DBL|UNIGENE:Hs.437028 |OMIM:114852 |SNP:1360 ENZ|EC:3.4.17.2 |carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 |carboxypeptidase B activity ; GO:0050425 MAP|3q24 HG|species == rat; score == 656; expect == 0.0; MEOW:ref|NP_036665.1| (76%) |species == Human; gene == CPA3; score == 441; expect == 4e-124; MEOW:HUgn0001359 (49%) |species == Mouse; gene == Cpa3; score == 438; expect == 2e-123; MEOW:MGgn0001590 (48%) |species == Human; gene == CPA6; score == 357; expect == 5.6e-99; MEOW:HUgn0057094 (40%) |species == Mouse; gene == Cpb2; score == 352; expect == 2.2e-97; MEOW:MGgn0014643 (42%) |species == Worm; gene == T06A4.1a; score == 238; expect == 7.0e-63; MEOW:CEgn0032459 (36%) |species == Worm; gene == T06A4.1b; score == 238; expect == 7.3e-63; MEOW:CEgn0032460 (36%) |species == Fruitfly; gene == CG3108; score == 234; expect == 2.8e-61; MEOW:FBgn0029807 (35%) |species == Mosquito; score == 231; expect == 5.9e-61; MEOW:AGgn0021052 (37%) |species == Worm; gene == Y18H1A.9; score == 231; expect == 5.3e-61; MEOW:CEgn0028131 (33%) |species == Fruitfly; gene == CG17633; score == 231; expect == 5.9e-61; MEOW:FBgn0032144 (33%) |species == Fruitfly; gene == CG18585; score == 228; expect == 5.0e-60; MEOW:FBgn0031929 (36%) |species == Fruitfly; gene == CG4017; score == 228; expect == 3.7e-60; MEOW:FBgn0032143 (35%) |species == Mosquito; score == 224; expect == 5.3e-59; MEOW:AGgn0029101 (33%) |species == Mosquito; gene == LOC19538; score == 222; expect == 3.4e-58; MEOW:AGgn0019538 (33%) |species == Worm; gene == Y47G6A.19; score == 221; expect == 6.8e-58; MEOW:CEgn0018909 (34%) |species == Mosquito; score == 219; expect == 1.1e-57; MEOW:AGgn0007330 (38%) |species == Fruitfly; gene == CG14820; score == 218; expect == 4.9e-57; MEOW:FBgn0035718 (31%) |species == Mosquito; gene == LOC16112; score == 216; expect == 2.5e-56; MEOW:AGgn0016112 (33%) |species == Fruitfly; gene == CG18417; score == 214; expect == 7.4e-56; MEOW:FBgn0035780 (33%) |species == Mosquito; score == 211; expect == 7.8e-55; MEOW:AGgn0027710 (32%) |species == Fruitfly; gene == CG3097; score == 208; expect == 4.2e-54; MEOW:FBgn0029804 (28%) |species == Fruitfly; gene == CG7025; score == 208; expect == 6.7e-54; MEOW:FBgn0031930 (32%) |species == Fruitfly; gene == CG8560; score == 208; expect == 3.9e-54; MEOW:FBgn0035781 (32%) |species == Worm; gene == ZC434.9; score == 207; expect == 1.3e-53; MEOW:CEgn0020670 (31%) |species == Mosquito; gene == LOC20016; score == 204; expect == 3.7e-53; MEOW:AGgn0020016 (39%) |species == Mosquito; gene == LOC20553; score == 203; expect == 9.2e-53; MEOW:AGgn0020553 (30%) |species == Fruitfly; gene == CG2915; score == 199; expect == 2.0e-51; MEOW:FBgn0033241 (31%) |species == Mosquito; score == 197; expect == 1.1e-50; MEOW:AGgn0020640 (30%) |species == Worm; gene == Y59C2A.1; score == 197; expect == 8.1e-51; MEOW:CEgn0019577 (30%) |species == Mosquito; gene == LOC24923; score == 194; expect == 7.9e-50; MEOW:AGgn0024923 (34%) |species == Fruitfly; gene == CG8562; score == 194; expect == 5.8e-50; MEOW:FBgn0035779 (38%) |species == Fruitfly; gene == CG4408; score == 193; expect == 1.5e-49; MEOW:FBgn0039073 (28%) |species == Worm; gene == R11A5.7; score == 191; expect == 1.1e-48; MEOW:CEgn0014812 (31%) |species == Zfish; gene == cpa; score == 187; expect == 2.1e-48; MEOW:ZFgn0002593 (55%) |species == Yeast; gene == ECM14; score == 177; expect == 1.3e-44; MEOW:SGgn0001174 (29%) } # EOR GENR { RETE|ID 1 HUgn0001361 CHR 1 13 DID 1 LocusLink:1361 MAP 1 13q14.11 NAM 1 carboxypeptidase B2 (plasma, carboxypeptidase U) ORG 1 Homo sapiens SYM 1 CPB2 ID|HUgn0001361 DID|LocusLink:1361 ORG|Homo sapiens RSQ|REFSEQ:NM_001872 |REFSEQ:NM_016413 RPA|REFPROT:NP_001863 |REFPROT:NP_057497 DBA|XM:NM_001872 |XM:NM_016413 |NA:AF080222 |NA:AF080223 |NA:AA700377 |NA:AB011969 |NA:AV719308 |NA:BC007057 |NA:BT006936 |NA:M75106 PAC|XP:NP_001863 |XP:NP_057497 SYM|CPB2 NAM|carboxypeptidase B2 (plasma, carboxypeptidase U) SYN|CPU |PCPB |TAFI FNC|plasma carboxypeptidase B2 isoform a preproprotein |plasma carboxypeptidase B2 isoform b |proteolysis and peptidolysis ; GO:0006508 REAB|Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase |family includes metallo-, serine, and cysteine carboxypeptidases. According to their |substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving |aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein |encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. |After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms |have been described for this gene and its promoter region. Available sequence data |analyses indicate splice variants that encode different isoforms. CHR|13 PRD|carboxypeptidase U |carboxypeptidase B-like protein |thrombin-activable fibrinolysis inhibitor |thrombin-activatable fibrinolysis inhibitor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=221926 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1361[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129546 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001872 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001872 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=221926 DBL|UNIGENE:Hs.221926 |OMIM:603101 |SNP:1361 ENZ|EC:3.4.17.20 |lysine carboxypeptidase activity ; GO:0004184 |metallocarboxypeptidase activity ; GO:0004181 |plasma protein ; GO:0005209 MAP|13q14.11 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Cpb2; score == 736; expect == 0.0; MEOW:MGgn0014643 (84%) |species == rat; score == 726; expect == 0.0; MEOW:ref|NP_446069.1| (82%) |species == Human; gene == CPA3; score == 330; expect == 6.8e-91; MEOW:HUgn0001359 (40%) |species == Human; gene == CPB1; score == 328; expect == 2.6e-90; MEOW:HUgn0001360 (41%) |species == Human; gene == CPA6; score == 317; expect == 6.4e-87; MEOW:HUgn0057094 (40%) |species == Human; gene == CPO; score == 307; expect == 9.2e-84; MEOW:HUgn0130749 (46%) |species == Human; gene == CPA2; score == 264; expect == 6.0e-71; MEOW:HUgn0001358 (39%) |species == Mosquito; score == 243; expect == 9.7e-65; MEOW:AGgn0007330 (43%) |species == Fruitfly; gene == CG3108; score == 230; expect == 4.0e-60; MEOW:FBgn0029807 (33%) |species == Worm; gene == T06A4.1a; score == 228; expect == 7.2e-60; MEOW:CEgn0032459 (36%) |species == Worm; gene == T06A4.1b; score == 228; expect == 7.5e-60; MEOW:CEgn0032460 (36%) |species == Fruitfly; gene == CG18585; score == 226; expect == 1.9e-59; MEOW:FBgn0031929 (36%) |species == Fruitfly; gene == CG3097; score == 224; expect == 9.8e-59; MEOW:FBgn0029804 (42%) |species == Fruitfly; gene == CG14820; score == 208; expect == 3.9e-54; MEOW:FBgn0035718 (36%) |species == Worm; gene == Y59C2A.1; score == 206; expect == 1.7e-53; MEOW:CEgn0019577 (36%) |species == Fruitfly; gene == CG4017; score == 202; expect == 1.7e-52; MEOW:FBgn0032143 (34%) |species == Worm; gene == Y18H1A.9; score == 201; expect == 1.0e-51; MEOW:CEgn0028131 (32%) |species == Mosquito; gene == LOC16112; score == 197; expect == 9.3e-51; MEOW:AGgn0016112 (34%) |species == Fruitfly; gene == CG7025; score == 189; expect == 3.2e-48; MEOW:FBgn0031930 (30%) |species == Fruitfly; gene == CG8945; score == 188; expect == 1.7e-47; MEOW:FBgn0030815 (30%) |species == Worm; gene == Y47G6A.19; score == 184; expect == 1.2e-46; MEOW:CEgn0018909 (34%) |species == Fruitfly; gene == CG2915; score == 184; expect == 1.1e-46; MEOW:FBgn0033241 (33%) |species == Yeast; gene == ECM14; score == 178; expect == 5.9e-45; MEOW:SGgn0001174 (33%) |species == Zfish; gene == cpa; score == 142; expect == 1.0e-34; MEOW:ZFgn0002593 (45%) } # EOR GENR { RETE|ID 1 HUgn0001362 CHR 1 17 DID 1 LocusLink:1362 MAP 1 17p11.1-q11.2 NAM 1 carboxypeptidase D ORG 1 Homo sapiens SYM 1 CPD ID|HUgn0001362 DID|LocusLink:1362 ORG|Homo sapiens RSQ|REFSEQ:NM_001304 RPA|REFPROT:NP_001295 DBA|XM:NM_001304 |NA:AL049339 |NA:BC020457 |NA:BC045549 |NA:BC045624 |NA:BC051702 |NA:D85390 |NA:U65090 |NA:U90914 |NA:none PAC|XP:NP_001295 SYM|CPD NAM|carboxypeptidase D FNC|carboxypeptidase D precursor REAB|The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based |on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory |B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a |regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis |B virus-binding protein. Transcript variants utilizing alternative polyadenylation |signals exist for this gene. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5057 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1362[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835933 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001304 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001304 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5057 DBL|UNIGENE:Hs.5057 |OMIM:603102 |SNP:1362 MAP|17p11.1-q11.2 HG|species == rat; score == 2408; expect == 0.0; MEOW:ref|NP_036968.1| (91%) |species == Mouse; gene == Cpd; score == 2349; expect == 0.0; MEOW:MGgn0001591 (89%) |species == Mosquito; gene == LOC1195; score == 706; expect == 0.0; MEOW:AGgn0001195 (36%) |species == Fruitfly; gene == svr; score == 682; expect == 0.0; MEOW:FBgn0004648 (35%) |species == Human; gene == CPE; score == 389; expect == 2e-108; MEOW:HUgn0001363 (50%) |species == Human; gene == CPN1; score == 381; expect == 4e-106; MEOW:HUgn0001369 (49%) |species == Human; gene == CPM; score == 368; expect == 3e-102; MEOW:HUgn0001368 (50%) |species == Worm; gene == F59A3.1; score == 360; expect == 2.3e-99; MEOW:CEgn0012457 (49%) |species == Human; gene == CPXM; score == 340; expect == 1.7e-93; MEOW:HUgn0056265 (45%) |species == Worm; gene == T27A8.1; score == 334; expect == 5.9e-92; MEOW:CEgn0017058 (45%) |species == Weed; gene == At1g71696; score == 246; expect == 1.1e-65; MEOW:ATgn0027198 (43%) |species == rice; score == 244; expect == 9.5e-65; MEOW:gnl|TIGR|8354.m00426 (33%) } # EOR GENR { RETE|ID 1 HUgn0001363 CHR 1 4 DID 1 LocusLink:1363 MAP 1 4q32.3 NAM 1 carboxypeptidase E ORG 1 Homo sapiens SYM 1 CPE ID|HUgn0001363 DID|LocusLink:1363 ORG|Homo sapiens RSQ|REFSEQ:NM_001873 RPA|REFPROT:NP_001864 DBA|XM:NM_001873 |NA:AK090962 |NA:AK127165 |NA:BC033866 |NA:BC053612 |NA:X51405 |NA:none PAC|XP:NP_001864 SYM|CPE NAM|carboxypeptidase E FNC|carboxypeptidase E precursor |neuropeptide signaling pathway ; GO:0007218 |proteolysis and peptidolysis ; GO:0006508 |metabolism ; GO:0008152 |protein modification ; GO:0006464 REAB|Carboxypeptidase E cleaves C-terminal amino acid residues and is involved in neuropeptide |processing. It is a peripheral membrane protein. CPE specifically binds regulated |secretory pathway proteins, including prohormones, but not constitutively secreted |proteins. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75360 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1363[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127894 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001873 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001873 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75360 DBL|UNIGENE:Hs.75360 |OMIM:114855 |SNP:1363 ENZ|EC:3.4.17.10 |carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |carboxypeptidase E activity ; GO:0004183 |hydrolase activity ; GO:0016787 MAP|4q32.3 CEL|plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cpe; score == 820; expect == 0.0; MEOW:MGgn0001593 (97%) |species == Human; gene == CPN1; score == 417; expect == 6e-117; MEOW:HUgn0001369 (51%) |species == rat; score == 404; expect == 6e-113; MEOW:ref|NP_445978.1| (52%) |species == Human; gene == CPZ; score == 401; expect == 4e-112; MEOW:HUgn0008532 (50%) |species == Human; gene == CPXM; score == 393; expect == 1e-109; MEOW:HUgn0056265 (48%) |species == rat; score == 393; expect == 1e-109; MEOW:ref|NP_113954.1| (49%) |species == Human; gene == CPD; score == 389; expect == 2e-108; MEOW:HUgn0001362 (50%) |species == rat; score == 389; expect == 2e-108; MEOW:ref|XP_215840.2| (50%) |species == rat; score == 388; expect == 4e-108; MEOW:ref|NP_036968.1| (51%) |species == rat; score == 384; expect == 5e-107; MEOW:ref|XP_215106.2| (45%) |species == Human; gene == LOC119587; score == 374; expect == 6e-104; MEOW:HUgn0119587 (47%) |species == rat; score == 353; expect == 1.5e-97; MEOW:ref|XP_223583.2| (42%) |species == Human; gene == AEBP1; score == 342; expect == 3.5e-94; MEOW:HUgn0000165 (40%) |species == Fruitfly; gene == svr; score == 312; expect == 2.3e-85; MEOW:FBgn0004648 (40%) |species == Mosquito; gene == LOC1195; score == 310; expect == 8.2e-85; MEOW:AGgn0001195 (40%) |species == Mosquito; gene == LOC17539; score == 308; expect == 2.4e-84; MEOW:AGgn0017539 (43%) |species == Worm; gene == F59A3.1; score == 303; expect == 4.3e-82; MEOW:CEgn0012457 (40%) |species == Worm; gene == T27A8.1; score == 268; expect == 3.4e-72; MEOW:CEgn0017058 (39%) |species == Weed; gene == At1g71696; score == 234; expect == 5.6e-62; MEOW:ATgn0027198 (39%) |species == rice; score == 197; expect == 1.3e-50; MEOW:gnl|TIGR|8354.m00426 (32%) } # EOR GENR { RETE|ID 1 HUgn0001364 CHR 1 7 DID 1 LocusLink:1364 MAP 1 7q11.23 NAM 1 claudin 4 ORG 1 Homo sapiens SYM 1 CLDN4 ID|HUgn0001364 DID|LocusLink:1364 ORG|Homo sapiens RSQ|REFSEQ:NM_001305 RPA|REFPROT:NP_001296 DBA|XM:NM_001305 |XM:NM_001305 |NA:AB000712 |NA:AK026651 |NA:AK124076 |NA:AK126315 |NA:AK126462 |NA:BC000671 |NA:BM768799 |NA:none PAC|XP:NP_001296 |XP:NP_001296 SYM|CLDN4 NAM|claudin 4 SYN|CPER |CPE-R |CPETR |CPETR1 |WBSCR8 |hCPE-R FNC|claudin 4 |pathogenesis ; GO:0009405 REAB|This gene encodes an integral membrane protein, which belongs to the claudin family. |The protein is a component of tight junction strands and may play a role in internal |organ development and function during pre- and postnatal life. This gene is deleted |in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. CHR|7 PRD|Clostridium perfringens enterotoxin receptor |Clostridium perfringens enterotoxin receptor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5372 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1364[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836133 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001305 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001305 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5372 DBL|UNIGENE:Hs.5372 |OMIM:602909 |SNP:1364 MAP|7q11.23 ENZ|structural molecule activity ; GO:0005198 |transmembrane receptor activity ; GO:0004888 CEL|tight junction ; GO:0005923 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 346; expect == 5.8e-96; MEOW:ref|XP_222090.1| (83%) |species == rat; score == 346; expect == 5.8e-96; MEOW:ref|XP_347344.1| (83%) |species == Zfish; gene == cldnb; score == 286; expect == 7.5e-78; MEOW:ZFgn0002210 (65%) |species == Human; gene == CLDN3; score == 256; expect == 7.9e-69; MEOW:HUgn0001365 (73%) |species == Zfish; gene == cldnc; score == 253; expect == 4.2e-68; MEOW:ZFgn0002225 (59%) |species == Mouse; gene == Cldn3; score == 249; expect == 4.9e-67; MEOW:MGgn0001437 (72%) |species == Zfish; gene == cldnh; score == 242; expect == 1.2e-64; MEOW:ZFgn0002187 (64%) |species == Human; gene == CLDN9; score == 241; expect == 2.6e-64; MEOW:HUgn0009080 (68%) |species == rat; score == 239; expect == 1.0e-63; MEOW:ref|XP_220203.2| (67%) |species == rat; score == 238; expect == 1.7e-63; MEOW:ref|NP_113888.1| (70%) |species == Mouse; gene == Cldn9; score == 235; expect == 9.7e-63; MEOW:MGgn0014641 (66%) |species == Mouse; gene == Cldn6; score == 232; expect == 6.3e-62; MEOW:MGgn0014107 (65%) |species == rat; score == 231; expect == 1.6e-61; MEOW:ref|XP_220202.1| (65%) |species == Human; gene == CLDN6; score == 230; expect == 4.6e-61; MEOW:HUgn0009074 (65%) |species == Zfish; gene == cldne; score == 229; expect == 4.5e-62; MEOW:ZFgn0002127 (63%) |species == Human; gene == CLDN7; score == 211; expect == 2.3e-55; MEOW:HUgn0001366 (45%) |species == Human; gene == LOC284620; score == 211; expect == 2.9e-55; MEOW:HUgn0284620 (60%) } # EOR GENR { RETE|ID 1 HUgn0001365 CHR 1 7 DID 1 LocusLink:1365 MAP 1 7q11.23 NAM 1 claudin 3 ORG 1 Homo sapiens SYM 1 CLDN3 ID|HUgn0001365 DID|LocusLink:1365 ORG|Homo sapiens RSQ|REFSEQ:NM_001306 RPA|REFPROT:NP_001297 DBA|XM:NM_001306 |XM:NM_001306 |NA:AF007189 |NA:AB000714 |NA:BC009083 |NA:BC016056 |NA:none PAC|XP:NP_001297 |XP:NP_001297 SYM|CLDN3 NAM|claudin 3 SYN|RVP1 |HRVP1 |CPE-R2 |CPETR2 FNC|claudin 3 REAB|Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial |cell sheets, forming continuous seals around cells and serving as a physical barrier |to prevent solutes and water from passing freely through the paracellular space. |These junctions are comprised of sets of continuous networking strands in the outwardly |facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic |leaflet. The protein encoded by this intronless gene, a member of the claudin family, |is an integral membrane protein and a component of tight junction strands. It is |also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares |aa sequence similarity with a putative apoptosis-related protein found in rat. CHR|7 PRD|claudin-3 |CPE-receptor 2 |rat ventral prostate.1-like protein |Clostridium perfringens enterotoxin receptor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=25640 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1365[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9478584 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001306 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001306 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=25640 DBL|UNIGENE:Hs.25640 |OMIM:602910 |SNP:1365 MAP|7q11.23 ENZ|structural molecule activity ; GO:0005198 |transmembrane receptor activity ; GO:0004888 CEL|tight junction ; GO:0005923 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cldn3; score == 306; expect == 5.5e-84; MEOW:MGgn0001437 (90%) |species == rat; score == 285; expect == 1.5e-77; MEOW:ref|NP_113888.1| (89%) |species == Mouse; gene == Cldn4; score == 283; expect == 4.7e-77; MEOW:MGgn0001438 (68%) |species == rat; score == 282; expect == 1.4e-76; MEOW:ref|XP_222090.1| (66%) |species == rat; score == 282; expect == 1.4e-76; MEOW:ref|XP_347344.1| (66%) |species == Zfish; gene == cldnh; score == 261; expect == 2.0e-70; MEOW:ZFgn0002187 (63%) |species == Zfish; gene == cldnb; score == 258; expect == 2.2e-69; MEOW:ZFgn0002210 (56%) |species == Human; gene == CLDN4; score == 256; expect == 7.9e-69; MEOW:HUgn0001364 (73%) |species == Zfish; gene == cldnc; score == 254; expect == 2.5e-68; MEOW:ZFgn0002225 (59%) |species == Zfish; gene == cldne; score == 228; expect == 1.8e-60; MEOW:ZFgn0002127 (63%) |species == Zfish; gene == cldnj; score == 226; expect == 8.8e-60; MEOW:ZFgn0002137 (52%) |species == Human; gene == CLDN7; score == 212; expect == 1.3e-55; MEOW:HUgn0001366 (49%) |species == Human; gene == CLDN9; score == 211; expect == 2.4e-55; MEOW:HUgn0009080 (63%) |species == Zfish; gene == cldna; score == 211; expect == 2.8e-55; MEOW:ZFgn0002207 (58%) } # EOR GENR { RETE|ID 1 HUgn0001366 CHR 1 17 DID 1 LocusLink:1366 MAP 1 17p13 NAM 1 claudin 7 ORG 1 Homo sapiens SYM 1 CLDN7 ID|HUgn0001366 DID|LocusLink:1366 ORG|Homo sapiens RSQ|REFSEQ:NM_001307 RPA|REFPROT:NP_001298 DBA|XM:NM_001307 |NA:AJ011497 |NA:BC001055 |NA:none PAC|XP:NP_001298 SYM|CLDN7 NAM|claudin 7 SYN|CPETRL2 |Hs.84359 FNC|claudin 7 CHR|17 PRD|claudin 9 |Clostridium perfringens enterotoxin receptor-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278562 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1366[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862905 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001307 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001307 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278562 DBL|UNIGENE:Hs.278562 |SNP:1366 MAP|17p13 ENZ|structural molecule activity ; GO:0005198 CEL|tight junction ; GO:0005923 |integral to membrane ; GO:0016021 HG|species == rat; score == 401; expect == 2e-112; MEOW:ref|XP_340829.1| (92%) |species == Mouse; gene == Cldn7; score == 399; expect == 3e-112; MEOW:MGgn0014108 (91%) |species == Human; gene == CLDN1; score == 276; expect == 7.5e-75; MEOW:HUgn0009076 (60%) |species == Zfish; gene == cldn7; score == 262; expect == 4.9e-72; MEOW:ZFgn0001941 (60%) |species == Human; gene == CLDN19; score == 246; expect == 6.4e-66; MEOW:HUgn0149461 (53%) |species == Zfish; gene == cldn19; score == 216; expect == 5.3e-58; MEOW:ZFgn0002143 (48%) } # EOR GENR { RETE|ID 1 HUgn0001367 CHR 1 15 DID 1 LocusLink:1367 MAP 1 15q11-qter NAM 1 ceruloplasmin-like 1 ORG 1 Homo sapiens SYM 1 CPL1 ID|HUgn0001367 DID|LocusLink:1367 ORG|Homo sapiens SYM|CPL1 NAM|ceruloplasmin-like 1 CHR|15 MAP|15q11-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119797 } # EOR GENR { RETE|ID 1 HUgn0001368 CHR 1 12 DID 1 LocusLink:1368 MAP 1 12q14.3 NAM 1 carboxypeptidase M ORG 1 Homo sapiens SYM 1 CPM ID|HUgn0001368 DID|LocusLink:1368 ORG|Homo sapiens RSQ|REFSEQ:NM_001874 |REFSEQ:NM_198320 RPA|REFPROT:NP_001865 |REFPROT:NP_938079 DBA|XM:NM_001874 |NA:AF368463 |NA:AI524542 |NA:AK127859 |NA:AK130146 |NA:BC016943 |NA:BC022276 |NA:BG677445 |NA:BQ181238 |NA:BQ431065 |NA:BQ706414 |NA:BQ773666 |NA:CB241489 |NA:CB959900 |NA:CB989009 |NA:CD109360 |NA:J04970 |NA:none PAC|XP:NP_001865 SYM|CPM NAM|carboxypeptidase M FNC|carboxypeptidase M precursor |proteolysis and peptidolysis ; GO:0006508 |embryogenesis and morphogenesis ; GO:0007345 |aromatic compound metabolism ; GO:0006725 REAB|The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. |Its expression is associated with monocyte to macrophage differentiation. This encoded |protein contains hydrophobic regions at the amino and carboxy termini and has 6 |potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases |A and B are conserved in this protein. Two alternatively spliced transcript variants |encoding the same protein have been described for this gene. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511820 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1368[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:636180 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001874 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001874 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511820 DBL|UNIGENE:Hs.511820 |OMIM:114860 |SNP:1368 ENZ|EC:3.4.17.12 |carboxypeptidase A activity ; GO:0004182 |metallopeptidase activity ; GO:0008237 |ferric iron binding ; GO:0008199 |hydrolase activity ; GO:0016787 MAP|12q14.3 CEL|plasma membrane ; GO:0005886 HG|species == rat; score == 753; expect == 0.0; MEOW:ref|XP_235168.2| (70%) |species == Mosquito; gene == LOC17539; score == 371; expect == 3e-103; MEOW:AGgn0017539 (49%) |species == Human; gene == CPD; score == 368; expect == 3e-102; MEOW:HUgn0001362 (50%) |species == Mouse; gene == Cpd; score == 363; expect == 7e-101; MEOW:MGgn0001591 (50%) |species == Mosquito; gene == LOC1195; score == 323; expect == 6.6e-89; MEOW:AGgn0001195 (43%) |species == Fruitfly; gene == svr; score == 320; expect == 2.8e-87; MEOW:FBgn0004648 (41%) |species == Mouse; gene == 5730456K23Rik; score == 317; expect == 3.1e-87; MEOW:MGgn0025878 (82%) |species == Mouse; gene == Cpn1; score == 305; expect == 1.7e-83; MEOW:MGgn0028491 (43%) |species == Human; gene == CPN1; score == 301; expect == 6.5e-82; MEOW:HUgn0001369 (42%) |species == Worm; gene == F59A3.1; score == 300; expect == 3.6e-81; MEOW:CEgn0012457 (43%) |species == Human; gene == CPE; score == 300; expect == 1.2e-81; MEOW:HUgn0001363 (42%) |species == Mouse; gene == Cpe; score == 297; expect == 9.9e-81; MEOW:MGgn0001593 (42%) |species == Worm; gene == T27A8.1; score == 260; expect == 1.4e-69; MEOW:CEgn0017058 (35%) |species == rice; score == 231; expect == 1.1e-60; MEOW:gnl|TIGR|8354.m00426 (33%) |species == Weed; gene == At1g71696; score == 222; expect == 2.2e-58; MEOW:ATgn0027198 (39%) } # EOR GENR { RETE|ID 1 HUgn0001369 CHR 1 10 DID 1 LocusLink:1369 MAP 1 10q24.31 NAM 1 carboxypeptidase N, polypeptide 1, 50kD ORG 1 Homo sapiens SYM 1 CPN1 ID|HUgn0001369 DID|LocusLink:1369 ORG|Homo sapiens RSQ|REFSEQ:NM_001308 RPA|REFPROT:NP_001299 DBA|XM:NM_001308 |NA:BC027897 |NA:X14329 |NA:none PAC|XP:NP_001299 SYM|CPN1 NAM|carboxypeptidase N, polypeptide 1, 50kD SYN|CPN |SCPN FNC|carboxypeptidase N, polypeptide 1, 50kD precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Carboxypeptidase N (CPN)is a plasma metallo-protease that cleaves basic amino acid |residues from the C terminal of peptides and proteins. The enzyme plays a central |role in regulating the biologic activity of peptides such as kinins and anaphylatoxins, |and is also known as kininase-1 and anaphylatoxin inactivator. CPN is a tetrameric |complex with a molecular weight of 280-kDa consisting of two identical small enzymatically |active (catalytic) subunits of 50-kDa (this record) and two large 83-kDa regulatory |subunits. The gene that encodes the 50-kDa catalytic subunit has been mapped to |chromosome 10 but its exact location is unknown. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2246 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1369[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835931 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001308 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001308 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2246 DBL|UNIGENE:Hs.2246 |OMIM:603103 |SNP:1369 ENZ|EC:3.4.17.3 |lysine carboxypeptidase activity ; GO:0004184 |carboxypeptidase A activity ; GO:0004182 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|10q24.31 PHP|Carboxypeptidase N deficiency CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Cpn1; score == 780; expect == 0.0; MEOW:MGgn0028491 (84%) |species == rat; score == 778; expect == 0.0; MEOW:ref|NP_445978.1| (83%) |species == Human; gene == CPE; score == 417; expect == 6e-117; MEOW:HUgn0001363 (51%) |species == Human; gene == CPZ; score == 385; expect == 3e-107; MEOW:HUgn0008532 (50%) |species == Human; gene == CPD; score == 381; expect == 4e-106; MEOW:HUgn0001362 (49%) |species == Human; gene == CPXM; score == 380; expect == 8e-106; MEOW:HUgn0056265 (47%) |species == Human; gene == LOC119587; score == 357; expect == 5.9e-99; MEOW:HUgn0119587 (44%) |species == Human; gene == AEBP1; score == 350; expect == 1.2e-96; MEOW:HUgn0000165 (41%) |species == Mosquito; gene == LOC1195; score == 349; expect == 8.9e-97; MEOW:AGgn0001195 (46%) |species == Fruitfly; gene == svr; score == 327; expect == 3.8e-90; MEOW:FBgn0004648 (43%) |species == Worm; gene == F59A3.1; score == 307; expect == 3.0e-83; MEOW:CEgn0012457 (44%) |species == Mosquito; gene == LOC17539; score == 298; expect == 2.6e-81; MEOW:AGgn0017539 (40%) |species == Worm; gene == T27A8.1; score == 277; expect == 5.3e-75; MEOW:CEgn0017058 (39%) |species == Weed; gene == At1g71696; score == 227; expect == 6.9e-60; MEOW:ATgn0027198 (38%) |species == rice; score == 197; expect == 1.3e-50; MEOW:gnl|TIGR|8354.m00426 (30%) } # EOR GENR { RETE|ID 1 HUgn0001370 CHR 1 8 DID 1 LocusLink:1370 MAP 1 8p23-p22 NAM 1 carboxypeptidase N, polypeptide 2, 83kD ORG 1 Homo sapiens SYM 1 CPN2 ID|HUgn0001370 DID|LocusLink:1370 ORG|Homo sapiens DBA|NA:BC031569 |NA:BC042334 |NA:J05158 |NA:none SYM|CPN2 NAM|carboxypeptidase N, polypeptide 2, 83kD SYN|ACBP CHR|8 PRD|arginine carboxypeptidase (carboxypeptidase N) DBL|OMIM:603104 |SNP:1370 ENZ|EC:3.4.17.3 MAP|8p23-p22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127893 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC042334 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC042334 } # EOR GENR { RETE|ID 1 HUgn0001371 CHR 1 3 DID 1 LocusLink:1371 MAP 1 3q12 NAM 1 coproporphyrinogen oxidase (coproporphyria, harderoporphyria) ORG 1 Homo sapiens SYM 1 CPO ID|HUgn0001371 DID|LocusLink:1371 ORG|Homo sapiens RSQ|REFSEQ:NM_000097 RPA|REFPROT:NP_000088 DBA|XM:NM_000097 |NA:Z34531 |NA:BC017210 |NA:BC023551 |NA:BC023554 |NA:D16611 |NA:Z28409 |NA:none PAC|XP:NP_000088 SYM|CPO NAM|coproporphyrinogen oxidase (coproporphyria, harderoporphyria) SYN|CPX |HCP FNC|coproporphyrinogen oxidase (coproporphyria, harderoporphyria) |heme biosynthesis ; GO:0006783 CHR|3 PRD|Coproporphyrinogen oxidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89866 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1371[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119070 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000097 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000097 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89866 |http://www.geneclinics.org/query?mim=121300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.89866 |OMIM:121300 |SNP:1371 |UWCM:119070.html ENZ|EC:1.3.3.3 |coproporphyrinogen oxidase activity ; GO:0004109 |oxidoreductase activity ; GO:0016491 MAP|3q12 PHP|Coproporphyria |Harderoporphyrinuria CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 696; expect == 0.0; MEOW:ref|XP_221545.1| (80%) |species == Mouse; gene == Cpo; score == 627; expect == 2e-180; MEOW:MGgn0001609 (86%) |species == Fruitfly; gene == Coprox; score == 460; expect == 5e-130; MEOW:FBgn0021944 (59%) |species == Mosquito; score == 447; expect == 5e-126; MEOW:AGgn0010734 (64%) |species == rice; score == 344; expect == 6.5e-95; MEOW:gnl|TIGR|8352.m04834 (56%) |species == Yeast; gene == HEM13; score == 340; expect == 6.3e-94; MEOW:SGgn0002451 (52%) |species == Weed; gene == At1g03475; score == 332; expect == 1.5e-91; MEOW:ATgn0027291 (52%) |species == ecoli; score == 285; expect == 1.6e-77; MEOW:ref|NP_416931.1| (47%) } # EOR GENR { RETE|ID 1 HUgn0001372 CHR 1 8 DID 1 LocusLink:1372 MAP 1 8q21.13-q23.1 NAM 1 ceruloplasmin (ferroxidase) pseudogene ORG 1 Homo sapiens SYM 1 CPP ID|HUgn0001372 DID|LocusLink:1372 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M18058 SYM|CPP NAM|ceruloplasmin (ferroxidase) pseudogene CHR|8 MAP|8q21.13-q23.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119798 } # EOR GENR { RETE|ID 1 HUgn0001373 CHR 1 2 DID 1 LocusLink:1373 MAP 1 2q35 NAM 1 carbamoyl-phosphate synthetase 1, mitochondrial ORG 1 Homo sapiens SYM 1 CPS1 ID|HUgn0001373 DID|LocusLink:1373 ORG|Homo sapiens RSQ|REFSEQ:NM_001875 RPA|REFPROT:NP_001866 DBA|XM:NM_001875 |NA:AF154830 |NA:AY317138 |NA:BC058010 |NA:BX640601 |NA:D90282 |NA:Y15793 |NA:none PAC|XP:NP_001866 SYM|CPS1 NAM|carbamoyl-phosphate synthetase 1, mitochondrial FNC|carbamoyl-phosphate synthetase 1, mitochondrial |urea cycle ; GO:0000050 |arginine biosynthesis ; GO:0006526 |pyrimidine base biosynthesis ; GO:0019856 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443292 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1373[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119799 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001875 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001875 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1373 |http://www.geneclinics.org/query?mim=237300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.443292 |OMIM:237300 |SNP:1373 ENZ|EC:6.3.4.16 |carbamoyl-phosphate synthase (ammonia) activity ; GO:0004087 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|2q35 PHP|Carbamoylphosphate synthetase I deficiency CEL|mitochondrion ; GO:0005739 HG|species == Yeast; gene == URA2; score == 1444; expect == 0.0; MEOW:SGgn0003666 (50%) |species == Human; gene == CAD; score == 1389; expect == 0.0; MEOW:HUgn0000790 (51%) |species == rat; score == 1371; expect == 0.0; MEOW:ref|XP_343028.1| (50%) |species == Mosquito; gene == LOC14822; score == 1367; expect == 0.0; MEOW:AGgn0014822 (49%) |species == Fruitfly; gene == r; score == 996; expect == 0.0; MEOW:FBgn0003189 (41%) |species == ecoli; score == 784; expect == 0.0; MEOW:ref|NP_414574.1| (40%) |species == Weed; gene == At1g29900; score == 758; expect == 0.0; MEOW:ATgn0006298 (39%) |species == rice; score == 735; expect == 0.0; MEOW:gnl|TIGR|8350.m03554 (38%) } # EOR GENR { RETE|ID 1 HUgn0001374 CHR 1 11 DID 1 LocusLink:1374 MAP 1 11q13.1-q13.2 NAM 1 carnitine palmitoyltransferase 1A (liver) ORG 1 Homo sapiens SYM 1 CPT1A ID|HUgn0001374 DID|LocusLink:1374 ORG|Homo sapiens RSQ|REFSEQ:NM_001876 RPA|REFPROT:NP_001867 DBA|XM:NM_001876 |NA:AK025307 |NA:BC000185 |NA:BT009791 |NA:L39211 |NA:none PAC|XP:NP_001867 SYM|CPT1A NAM|carnitine palmitoyltransferase 1A (liver) SYN|CPT1 |CPT1-L |L-CPT1 FNC|carnitine palmitoyltransferase 1A |fatty acid beta-oxidation ; GO:0006635 |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 REAB|The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential |action of carnitine palmitoyltransferase I (which is located in the outer membrane |and is detergent-labile) and carnitine palmitoyltransferase II (which is located |in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine |translocase. CPT I is the key enzyme in the carnitine-dependent transport across |the mitochondrial inner membrane and its deficiency results in a decreased rate |of fatty acid beta-oxidation. CHR|11 PRD|carnitine palmitoyltransferase I, liver URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=259785 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1374[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:597642 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001876 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001876 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=259785 |http://www.geneclinics.org/query?mim=600528 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.259785 |OMIM:600528 |SNP:1374 ENZ|EC:2.3.1.21 |acyltransferase activity ; GO:0008415 |carnitine O-palmitoyltransferase activity ; GO:0004095 |transferase activity ; GO:0016740 MAP|11q13.1-q13.2 PHP|CPT deficiency, hepatic, type IA CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |outer membrane ; GO:0019867 HG|species == rat; score == 1411; expect == 0.0; MEOW:ref|NP_113747.1| (86%) |species == Mouse; gene == Cpt1a; score == 1409; expect == 0.0; MEOW:MGgn0001611 (86%) |species == Human; gene == CPT1B; score == 1026; expect == 0.0; MEOW:HUgn0001375 (63%) |species == Human; gene == CPT1C; score == 892; expect == 0.0; MEOW:HUgn0126129 (54%) |species == Fruitfly; gene == CPTI; score == 772; expect == 0.0; MEOW:FBgn0027842 (50%) |species == Mosquito; score == 770; expect == 0.0; MEOW:AGgn0006147 (51%) |species == Worm; gene == Y46G5A.17; score == 655; expect == 0.0; MEOW:CEgn0018796 (48%) |species == Yeast; gene == CAT2; score == 220; expect == 1.8e-57; MEOW:SGgn0004506 (26%) |species == Yeast; gene == YAT1; score == 189; expect == 1.9e-48; MEOW:SGgn0000080 (26%) } # EOR GENR { RETE|ID 1 HUgn0001375 CHR 1 22 DID 1 LocusLink:1375 MAP 1 22q13.33 NAM 1 carnitine palmitoyltransferase 1B (muscle) ORG 1 Homo sapiens SYM 1 CPT1B ID|HUgn0001375 DID|LocusLink:1375 ORG|Homo sapiens RSQ|REFSEQ:NM_004377 |REFSEQ:NM_152245 |REFSEQ:NM_152246 |REFSEQ:NM_152247 RPA|REFPROT:NP_004368 |REFPROT:NP_689451 |REFPROT:NP_689452 |REFPROT:NP_689453 DBA|XM:NM_004377 |XM:NM_152245 |XM:NM_152246 |NA:AB003286 |NA:U62317 |NA:AB051457 |NA:AI142100 |NA:BG426428 |NA:D87812 |NA:U62733 |NA:U66828 |NA:Y08682 |NA:Y08683 |NA:BC021130 PAC|XP:NP_004368 |XP:NP_689451 |XP:NP_689452 SYM|CPT1B NAM|carnitine palmitoyltransferase 1B (muscle) SYN|CPT1-M |M-CPT1 |KIAA1670 FNC|carnitine palmitoyltransferase 1B isoform a |carnitine palmitoyltransferase 1B isoform b |fatty acid beta-oxidation ; GO:0006635 REAB|The protein encoded by this gene, a member of the carnitine/choline acetyltransferase |family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation |pathway in muscle mitochondria. This enzyme is required for the net transport of |long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. At least four |transcript variants encoding two different isoforms have been found for this gene, |and one of the transcripts is bicistronic. In addition, two of the transcripts utilize |alternative polyadenylation signals. CHR|22 PRD|CPTI, muscle |carnitine palmitoyltransferase 1A (muscle) |carnitine O-palmitoyltransferase I, mitochondrial muscle isoform URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439777 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1375[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3793227 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152247 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152247 |http://www.geneclinics.org/query?mim=601987 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.439777 |OMIM:601987 |SNP:1375 ENZ|EC:2.3.1.21 |carnitine O-palmitoyltransferase activity ; GO:0004095 MAP|22q13.33 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cpt1b; score == 1407; expect == 0.0; MEOW:MGgn0001612 (87%) |species == rat; score == 1383; expect == 0.0; MEOW:ref|NP_037332.1| (85%) |species == Human; gene == CPT1A; score == 1026; expect == 0.0; MEOW:HUgn0001374 (63%) |species == Mosquito; score == 755; expect == 0.0; MEOW:AGgn0006147 (48%) |species == Fruitfly; gene == CPTI; score == 749; expect == 0.0; MEOW:FBgn0027842 (50%) |species == Worm; gene == Y46G5A.17; score == 623; expect == 1e-178; MEOW:CEgn0018796 (45%) |species == Yeast; gene == CAT2; score == 216; expect == 2.5e-56; MEOW:SGgn0004506 (27%) |species == Yeast; gene == YAT1; score == 189; expect == 5.9e-48; MEOW:SGgn0000080 (26%) } # EOR GENR { RETE|ID 1 HUgn0001376 CHR 1 1 DID 1 LocusLink:1376 MAP 1 1p32 NAM 1 carnitine palmitoyltransferase II ORG 1 Homo sapiens SYM 1 CPT2 ID|HUgn0001376 DID|LocusLink:1376 ORG|Homo sapiens RSQ|REFSEQ:NM_000098 RPA|REFPROT:NP_000089 DBA|XM:NM_000098 |NA:U09646 |NA:X78707 |NA:BC002445 |NA:BC005172 |NA:M58581 |NA:U09648 |NA:none PAC|XP:NP_000089 SYM|CPT2 NAM|carnitine palmitoyltransferase II SYN|CPT1 |CPTASE FNC|carnitine palmitoyltransferase II |fatty acid beta-oxidation ; GO:0006635 |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 REAB|Carnitine palmitoyltransferase II precursor (CPT2) is a nuclear protein which is |transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase |I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are |associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274336 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1376[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127272 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000098 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274336 |http://www.geneclinics.org/query?mim=600650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 DBL|UNIGENE:Hs.274336 |OMIM:600650 |SNP:1376 |UWCM:127272.html ENZ|EC:2.3.1.21 |acyltransferase activity ; GO:0008415 |carnitine O-palmitoyltransferase activity ; GO:0004095 |transferase activity ; GO:0016740 MAP|1p32 PHP|CPT deficiency, hepatic, type II |Myopathy due to CPT II deficiency CEL|mitochondrion ; GO:0005739 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Cpt2; score == 1189; expect == 0.0; MEOW:MGgn0001613 (87%) |species == rat; score == 1157; expect == 0.0; MEOW:ref|NP_037062.1| (83%) |species == Mosquito; score == 624; expect == 2e-179; MEOW:AGgn0027771 (51%) |species == Mosquito; score == 574; expect == 3e-164; MEOW:AGgn0006436 (48%) |species == Fruitfly; gene == CG2107; score == 563; expect == 1e-160; MEOW:FBgn0035383 (46%) |species == Human; gene == CRAT; score == 265; expect == 5.8e-71; MEOW:HUgn0001384 (30%) |species == Yeast; gene == YAT1; score == 259; expect == 3.5e-69; MEOW:SGgn0000080 (29%) |species == Worm; gene == Y46G5A.17; score == 244; expect == 1.3e-64; MEOW:CEgn0018796 (30%) |species == Human; gene == CHAT; score == 241; expect == 1.1e-63; MEOW:HUgn0001103 (29%) |species == Human; gene == CROT; score == 237; expect == 1.6e-62; MEOW:HUgn0054677 (29%) |species == Worm; gene == B0395.3; score == 223; expect == 2.5e-58; MEOW:CEgn0003459 (27%) |species == Yeast; gene == CAT2; score == 221; expect == 1.4e-57; MEOW:SGgn0004506 (27%) |species == Human; gene == CPT1B; score == 215; expect == 6.7e-56; MEOW:HUgn0001375 (28%) } # EOR GENR { RETE|ID 1 HUgn0001377 CHR 1 X DID 1 LocusLink:1377 MAP 1 Xq21.3-q22 NAM 1 cleft palate and/or ankyloglossia ORG 1 Homo sapiens SYM 1 CPX ID|HUgn0001377 DID|LocusLink:1377 ORG|Homo sapiens SYM|CPX NAM|cleft palate and/or ankyloglossia SYN|CLPA CHR|X DBL|OMIM:303400 MAP|Xq21.3-q22 PHP|Cleft palate, X-linked URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120598 } # EOR GENR { RETE|ID 1 HUgn0001378 CHR 1 1 DID 1 LocusLink:1378 MAP 1 1q32 NAM 1 complement component (3b/4b) receptor 1, including Knops blood group system ORG 1 Homo sapiens SYM 1 CR1 ID|HUgn0001378 DID|LocusLink:1378 ORG|Homo sapiens RSQ|REFSEQ:NM_000573 |REFSEQ:NM_000651 RPA|REFPROT:NP_000564 |REFPROT:NP_000642 DBA|XM:NM_000573 |XM:NM_000651 |NA:AF169969 |NA:AF169970 |NA:AF264715 |NA:AF264716 |NA:L17390 |NA:L17418 |NA:M31241 |NA:X14358 |NA:X14361 |NA:M11569 |NA:M11617 |NA:M11618 |NA:X05309 |NA:X14362 |NA:Y00816 PAC|XP:NP_000564 |XP:NP_000642 SYM|CR1 NAM|complement component (3b/4b) receptor 1, including Knops blood group system SYN|C3BR |CD35 FNC|complement component (3b/4b) receptor-1 isoform F precursor |complement component (3b/4b) receptor-1 isoform S |complement activation ; GO:0006956 REAB|This gene encodes a membrane glycoprotein found on peripheral blood cells, glomerular |podocytes, and follicular dendritic cells. The protein is a receptor for complement |components C3b and C4b and regulates the activity of the complement cascade. Variation |in this protein is the basis of the Knops blood group system. The two most common |alleles, F and S, differ by 8 exons and are thought to be the result of an unequal |crossover event. A secreted form of the protein present in plasma has been described, |but its full length nature has not been determined. CHR|1 PRD|CD35 antigen |C3-binding protein |complement component (3b/4b) receptor-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334019 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1378[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119800 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000651 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000651 DBL|UNIGENE:Hs.334019 |OMIM:120620 |SNP:1378 |PROW:1107950722 MAP|1q32 PHP|?SLE susceptibility |Blood group, Knops system |CR1 deficiency ENZ|complement receptor activity ; GO:0004875 |complement component C3b receptor activity ; GO:0004877 CEL|integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 4187; expect == 0.0; MEOW:sp|Q29530|Q29530 (98%) |species == rat; score == 949; expect == 0.0; MEOW:ref|XP_213977.2| (39%) |species == Human; gene == CR1L; score == 754; expect == 0.0; MEOW:HUgn0001379 (85%) |species == Mouse; gene == Cr2; score == 555; expect == 4e-158; MEOW:MGgn0001619 (33%) |species == Mosquito; gene == LOC5322; score == 223; expect == 2.3e-58; MEOW:AGgn0005322 (27%) |species == Fruitfly; gene == fw; score == 220; expect == 3.5e-57; MEOW:FBgn0001083 (26%) |species == Worm; gene == T07H6.5; score == 149; expect == 3.2e-36; MEOW:CEgn0015756 (26%) } # EOR GENR { RETE|ID 1 HUgn0001379 CHR 1 1 DID 1 LocusLink:1379 MAP 1 1q32.1 NAM 1 complement component (3b/4b) receptor 1-like ORG 1 Homo sapiens SYM 1 CR1L ID|HUgn0001379 DID|LocusLink:1379 ORG|Homo sapiens DBA|XM:XM_114735 |NA:M31230 |NA:M31231 |NA:M31232 |NA:M31233 |NA:M31234 |NA:M31235 |NA:M31236 |NA:M31237 |NA:AY114160 PAC|XP:XP_114735 SYM|CR1L NAM|complement component (3b/4b) receptor 1-like CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89688 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119801 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AY114160 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AY114160 DBL|UNIGENE:Hs.89688 |OMIM:605886 |SNP:1379 MAP|1q32.1 HG|species == chimp; score == 810; expect == 0.0; MEOW:sp|Q28797|Q28797 (95%) |species == chimp; score == 756; expect == 0.0; MEOW:sp|Q29531|Q29531 (85%) |species == Human; gene == CR1; score == 754; expect == 0.0; MEOW:HUgn0001378 (85%) |species == chimp; score == 754; expect == 0.0; MEOW:sp|Q29530|Q29530 (85%) |species == rat; score == 456; expect == 2e-128; MEOW:ref|XP_213977.2| (52%) |species == rat; score == 387; expect == 7e-108; MEOW:ref|NP_062174.1| (46%) |species == Mouse; gene == Cr2; score == 267; expect == 2.0e-71; MEOW:MGgn0001619 (36%) |species == Fruitfly; gene == fw; score == 145; expect == 1.4e-34; MEOW:FBgn0001083 (27%) |species == Mosquito; gene == LOC5322; score == 144; expect == 1.4e-34; MEOW:AGgn0005322 (27%) } # EOR GENR { RETE|ID 1 HUgn0001380 CHR 1 1 DID 1 LocusLink:1380 MAP 1 1q32 NAM 1 complement component (3d/Epstein Barr virus) receptor 2 ORG 1 Homo sapiens SYM 1 CR2 ID|HUgn0001380 DID|LocusLink:1380 ORG|Homo sapiens RSQ|REFSEQ:NM_001877 RPA|REFPROT:NP_001868 DBA|XM:NM_001877 |NA:M26016 |NA:J03565 |NA:M26004 |NA:Y00649 |NA:none PAC|XP:NP_001868 SYM|CR2 NAM|complement component (3d/Epstein Barr virus) receptor 2 SYN|C3DR |CD21 FNC|complement component (3d/Epstein Barr virus) receptor 2 |complement activation, classical pathway ; GO:0006958 |immune response ; GO:0006955 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73792 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1380[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119802 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001877 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001877 DBL|UNIGENE:Hs.73792 |OMIM:120650 |SNP:1380 |PROW:295345001 MAP|1q32 ENZ|complement receptor activity ; GO:0004875 |transmembrane receptor activity ; GO:0004888 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Cr2; score == 1503; expect == 0.0; MEOW:MGgn0001619 (66%) |species == rat; score == 1204; expect == 0.0; MEOW:ref|XP_213977.2| (56%) |species == Human; gene == CR1; score == 570; expect == 4e-162; MEOW:HUgn0001378 (35%) |species == chimp; score == 565; expect == 7e-161; MEOW:sp|Q29530|Q29530 (35%) |species == Mosquito; gene == LOC5322; score == 229; expect == 2.6e-60; MEOW:AGgn0005322 (28%) |species == Fruitfly; gene == fw; score == 193; expect == 2.8e-49; MEOW:FBgn0001083 (25%) |species == Worm; gene == T07H6.5; score == 148; expect == 7.1e-36; MEOW:CEgn0015756 (26%) } # EOR GENR { RETE|ID 1 HUgn0001381 CHR 1 15 DID 1 LocusLink:1381 MAP 1 15q24 NAM 1 cellular retinoic acid binding protein 1 ORG 1 Homo sapiens SYM 1 CRABP1 ID|HUgn0001381 DID|LocusLink:1381 ORG|Homo sapiens RSQ|REFSEQ:NM_004378 RPA|REFPROT:NP_004369 DBA|XM:NM_004378 |NA:BC022069 |NA:S74445 |NA:none PAC|XP:NP_004369 SYM|CRABP1 NAM|cellular retinoic acid binding protein 1 SYN|RBP5 |CRABP |CRABPI |CRABP-I FNC|cellular retinoic acid binding protein 1 |transport ; GO:0006810 |development ; GO:0007275 |signal transduction ; GO:0007165 REAB|A number of specific carrier proteins for members of the vitamin A family have been |discovered. Cellular retinoic acid-binding protein is assumed to play an important |role in retinoic acid-mediated differentiation and proliferation processes. CRABP1 |is structurally similar to the cellular retinol-binding proteins, but binds only |retinoic acid. CRABP1 is constitutively expressed and is believed to have different |functions in the cell than the related CRABP2. CHR|15 PRD|cellular retinoic acid-binding protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=346950 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1381[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120343 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004378 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004378 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=346950 DBL|UNIGENE:Hs.346950 |OMIM:180230 |SNP:1381 MAP|15q24 ENZ|retinoid binding ; GO:0005501 |lipid binding ; GO:0008289 |transporter activity ; GO:0005215 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Crabp1; score == 280; expect == 1.3e-76; MEOW:MGgn0001620 (99%) |species == rat; score == 280; expect == 1.3e-76; MEOW:ref|XP_236253.1| (99%) |species == Human; gene == CRABP2; score == 217; expect == 1.7e-57; MEOW:HUgn0001382 (76%) } # EOR GENR { RETE|ID 1 HUgn0001382 CHR 1 1 DID 1 LocusLink:1382 MAP 1 1q21.3 NAM 1 cellular retinoic acid binding protein 2 ORG 1 Homo sapiens SYM 1 CRABP2 ID|HUgn0001382 DID|LocusLink:1382 ORG|Homo sapiens RSQ|REFSEQ:NM_001878 RPA|REFPROT:NP_001869 DBA|XM:NM_001878 |NA:M97815 |NA:BC001109 |NA:M68867 |NA:none PAC|XP:NP_001869 SYM|CRABP2 NAM|cellular retinoic acid binding protein 2 SYN|RBP6 |CRABP-II FNC|cellular retinoic acid binding protein 2 |epidermal differentiation ; GO:0008544 |transport ; GO:0006810 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 REAB|A number of specific carrier proteins for members of the vitamin A family have been |discovered. Cellular retinoic acid binding proteins (CRABP) are low molecular weight |proteins whose precise function remains unknown. The inducibility of the CRABP2 |gene suggests that this isoform is important in retinoic acid-mediated regulation |of human skin growth and differentiation. It has been postulated that the CRABP2 |gene is transcriptionally regulated by a newly synthesized regulatory protein. CHR|1 PRD|cellular retinoic acid-binding protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183650 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1382[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134819 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001878 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001878 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183650 DBL|UNIGENE:Hs.183650 |OMIM:180231 |SNP:1382 MAP|1q21.3 ENZ|retinoid binding ; GO:0005501 |lipid binding ; GO:0008289 |transporter activity ; GO:0005215 HG|species == Mouse; gene == Crabp2; score == 266; expect == 1.4e-72; MEOW:MGgn0001621 (93%) |species == rat; score == 265; expect == 7.5e-72; MEOW:ref|NP_058940.1| (93%) |species == Human; gene == CRABP1; score == 217; expect == 1.7e-57; MEOW:HUgn0001381 (76%) |species == Mouse; gene == Crabp1; score == 216; expect == 2.1e-57; MEOW:MGgn0001620 (76%) |species == rat; score == 216; expect == 3.0e-57; MEOW:ref|XP_236253.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0001384 CHR 1 9 DID 1 LocusLink:1384 MAP 1 9q34.1 NAM 1 carnitine acetyltransferase ORG 1 Homo sapiens SYM 1 CRAT ID|HUgn0001384 DID|LocusLink:1384 ORG|Homo sapiens RSQ|REFSEQ:NM_000755 |REFSEQ:NM_004003 |REFSEQ:NM_144782 RPA|REFPROT:NP_000746 |REFPROT:NP_003994 |REFPROT:NP_659006 DBA|XM:NM_000755 |XM:NM_004003 |XM:NM_144782 |NA:X79825 |NA:BC000723 |NA:BQ068230 |NA:BT006801 |NA:X78706 PAC|XP:NP_000746 |XP:NP_003994 |XP:NP_659006 SYM|CRAT NAM|carnitine acetyltransferase SYN|CAT1 FNC|carnitine acetyltransferase isoform 1 precursor |carnitine acetyltransferase isoform 2 |carnitine acetyltransferase isoform 3 precursor |energy derivation by oxidation of organic compounds ; GO:0015980 |acyl-CoA metabolism ; GO:0006637 |energy pathways ; GO:0006091 REAB|Carnitine acetyltransferase (CRAT) is a key enzyme in the metabolic pathway in mitochondria, |peroxisomes and endoplasmic reticulum. CRAT catalyzes the reversible transfer of |acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acylCoA/CoA |in the subcellular compartments. Different subcellular localizations of the CRAT |mRNAs are thought to result from alternative splicing of the CRAT gene suggested |by the divergent sequences in the 5' region of peroxisomal and mitochondrial CRAT |cDNAs and the location of an intron where the sequences diverge. The alternatively |splicing of this gene results in three distinct isoforms, one of which contains |an N-terminial mitochondrial transit peptide, and has been shown to be located in |mitochondria. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12068 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1384[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:359759 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000755 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000755 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=12068 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1384 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1384 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.12068 |OMIM:600184 |SNP:1384 ENZ|EC:2.3.1.7 MAP|9q34.1 CEL|peroxisome ; GO:0005777 |endoplasmic reticulum ; GO:0005783 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Crat; score == 1151; expect == 0.0; MEOW:MGgn0001625 (90%) |species == rat; score == 1149; expect == 0.0; MEOW:ref|XP_242301.2| (86%) |species == Human; gene == CHAT; score == 471; expect == 4e-133; MEOW:HUgn0001103 (42%) |species == Worm; gene == B0395.3; score == 420; expect == 1e-117; MEOW:CEgn0003459 (38%) |species == Fruitfly; gene == CG1041; score == 413; expect == 8e-116; MEOW:FBgn0037440 (36%) |species == Fruitfly; gene == CG5122; score == 408; expect == 2e-114; MEOW:FBgn0032471 (38%) |species == Fruitfly; gene == CG5265; score == 408; expect == 3e-114; MEOW:FBgn0038486 (35%) |species == Fruitfly; gene == Cha; score == 387; expect == 8e-108; MEOW:FBgn0000303 (36%) |species == Mosquito; gene == LOC1265; score == 372; expect == 1e-103; MEOW:AGgn0001265 (35%) |species == Yeast; gene == CAT2; score == 279; expect == 3.2e-75; MEOW:SGgn0004506 (31%) } # EOR GENR { RETE|ID 1 HUgn0001385 CHR 1 2 DID 1 LocusLink:1385 MAP 1 2q34 NAM 1 cAMP responsive element binding protein 1 ORG 1 Homo sapiens SYM 1 CREB1 ID|HUgn0001385 DID|LocusLink:1385 ORG|Homo sapiens RSQ|REFSEQ:NM_004379 |REFSEQ:NM_134442 RPA|REFPROT:NP_004370 |REFPROT:NP_604391 DBA|XM:NM_004379 |XM:NM_134442 |NA:S53722 |NA:S72459 |NA:AY347527 |NA:BC010636 |NA:M27691 |NA:M34356 |NA:S78693 |NA:S78695 |NA:X55545 |NA:X60003 |NA:none PAC|XP:NP_004370 |XP:NP_604391 SYM|CREB1 NAM|cAMP responsive element binding protein 1 SYN|CREB |MGC9284 FNC|cAMP responsive element binding protein 1 isoform A |cAMP responsive element binding protein 1 isoform B |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 REAB|This gene encodes a transcription factor that is a member of the leucine zipper family |of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive |element, an octameric palindrome. The protein is phosphorylated by several protein |kinases, and induces transcription of genes in response to hormonal stimulation |of the cAMP pathway. Alternate splicing of this gene results in two transcript variants |encoding different isoforms. CHR|2 PRD|transactivator protein |active transcription factor CREB |cAMP-response element-binding protein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=22315 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1385[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119803 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_134442 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_134442 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=22315 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26864 DBL|UNIGENE:Hs.22315 |OMIM:123810 |SNP:1385 MAP|2q34 ENZ|transcription cofactor activity ; GO:0003712 |protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 505; expect == 1e-143; MEOW:ref|NP_604392.1| (98%) |species == Mouse; gene == Creb1; score == 501; expect == 1e-142; MEOW:MGgn0001629 (95%) |species == rat; score == 498; expect == 2e-141; MEOW:ref|NP_112279.1| (95%) |species == Human; gene == CREM; score == 345; expect == 2.0e-95; MEOW:HUgn0001390 (65%) } # EOR GENR { RETE|ID 1 HUgn0001386 CHR 1 2 DID 1 LocusLink:1386 MAP 1 2q32 NAM 1 activating transcription factor 2 ORG 1 Homo sapiens SYM 1 ATF2 ID|HUgn0001386 DID|LocusLink:1386 ORG|Homo sapiens RSQ|REFSEQ:NM_001880 RPA|REFPROT:NP_001871 DBA|XM:NM_001880 |NA:AI200584 |NA:AK128731 |NA:AY029364 |NA:BC026175 |NA:BX648469 |NA:M31630 |NA:U16028 |NA:X15875 |NA:none PAC|XP:NP_001871 SYM|ATF2 NAM|activating transcription factor 2 SYN|HB16 |TREB7 |CRE-BP1 FNC|activating transcription factor 2 REAB|This gene encodes a transcription factor that is a member of the leucine zipper family |of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), |an octameric palindrome. The protein forms a homodimer or heterodimer with c-Jun |and stimulates CRE-dependent transcription. The protein is also a histone acetyltransferase |(HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent |a class of sequence-specific factors that activate transcription by direct effects |on chromatin components. Additional transcript variants have been identified but |their biological validity has not been determined. CHR|2 PRD|cAMP responsive element binding protein 2, formerly URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80285 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1386[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128011 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001880 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001880 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80285 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA25084 DBL|UNIGENE:Hs.80285 |OMIM:123811 |SNP:1386 MAP|2q32 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription co-activator activity ; GO:0003713 HG|species == Mouse; gene == Atf2; score == 847; expect == 0.0; MEOW:MGgn0000566 (99%) |species == Human; gene == ATF7; score == 428; expect == 3e-120; MEOW:HUgn0011016 (55%) |species == rat; score == 398; expect == 4e-111; MEOW:ref|XP_235694.2| (54%) } # EOR GENR { RETE|ID 1 HUgn0001387 CHR 1 16 DID 1 LocusLink:1387 MAP 1 16p13.3 NAM 1 CREB binding protein (Rubinstein-Taybi syndrome) ORG 1 Homo sapiens SYM 1 CREBBP ID|HUgn0001387 DID|LocusLink:1387 ORG|Homo sapiens RSQ|REFSEQ:NM_004380 RPA|REFPROT:NP_004371 DBA|XM:NM_004380 |NA:U47741 |NA:U85962 |NA:U89355 |NA:none PAC|XP:NP_004371 SYM|CREBBP NAM|CREB binding protein (Rubinstein-Taybi syndrome) SYN|CBP |RTS |RSTS FNC|CREB binding protein |regulation of transcription, DNA-dependent ; GO:0006355 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=270804 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1387[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:437159 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004380 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004380 |http://www.geneclinics.org/query?mim=600140 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.270804 |OMIM:600140 |SNP:1387 |UWCM:437159.html |PROSITEDOC:PDOC00550 MAP|16p13.3 PHP|Rubenstein-Taybi syndrome ENZ|histone acetyltransferase activity ; GO:0004402 |protein binding ; GO:0005515 |zinc ion binding ; GO:0008270 |transcription co-activator activity ; GO:0003713 |signal transducer activity ; GO:0004871 |transcription factor activity ; GO:0003700 |transferase activity ; GO:0016740 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Crebbp; score == 3615; expect == 0.0; MEOW:MGgn0001631 (94%) |species == Human; gene == EP300; score == 1421; expect == 0.0; MEOW:HUgn0002033 (79%) |species == Mosquito; score == 1154; expect == 0.0; MEOW:AGgn0004748 (71%) |species == Mosquito; score == 1154; expect == 0.0; MEOW:AGgn0025904 (71%) |species == Fruitfly; gene == nej; score == 1113; expect == 0.0; MEOW:FBgn0015624 (69%) |species == Worm; gene == cbp-1; score == 836; expect == 0.0; MEOW:CEgn0000134 (45%) |species == rat; score == 516; expect == 5e-146; MEOW:ref|NP_596872.1| (90%) |species == Weed; gene == At1g79000; score == 388; expect == 1e-107; MEOW:ATgn0005121 (34%) |species == rice; score == 268; expect == 1.5e-71; MEOW:gnl|TIGR|8351.m00350 (39%) |species == rice; score == 251; expect == 2.2e-66; MEOW:gnl|TIGR|8354.m04600 (33%) |species == rice; score == 218; expect == 1.0e-55; MEOW:gnl|TIGR|8350.m01343 (36%) } # EOR GENR { RETE|ID 1 HUgn0001388 CHR 1 6 DID 1 LocusLink:1388 MAP 1 6p21.3 NAM 1 cAMP responsive element binding protein-like 1 ORG 1 Homo sapiens SYM 1 CREBL1 ID|HUgn0001388 DID|LocusLink:1388 ORG|Homo sapiens RSQ|REFSEQ:NM_004381 RPA|REFPROT:NP_004372 DBA|XM:NM_004381 |NA:AL049547 |NA:U89337 |NA:X98053 |NA:BC008394 |NA:U31903 |NA:U52696 |NA:U52701 |NA:X98054 |NA:none PAC|XP:NP_004372 SYM|CREBL1 NAM|cAMP responsive element binding protein-like 1 SYN|G13 |CREB-RP FNC|cAMP responsive element binding protein-like 1 REAB|The protein encoded by this gene bears sequence similarity with the Creb/ATF subfamily |of the bZip superfamily of transcription factors. It localizes to both the cytoplasm |and the nucleus. The gene localizes to the major histocompatibility complex (MHC) |class III region on chromosome 6. CHR|6 PRD|Creb-related protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=42853 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1388[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642262 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004381 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004381 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=42853 DBL|UNIGENE:Hs.42853 |OMIM:600984 |SNP:1388 MAP|6p21.3 HG|species == Mouse; gene == Crebl1; score == 984; expect == 0.0; MEOW:MGgn0001632 (86%) |species == Human; gene == ATF6; score == 288; expect == 9.0e-78; MEOW:HUgn0022926 (40%) |species == rat; score == 186; expect == 2.3e-47; MEOW:ref|XP_222871.2| (40%) |species == Mosquito; score == 159; expect == 1.9e-39; MEOW:AGgn0026313 (32%) } # EOR GENR { RETE|ID 1 HUgn0001389 CHR 1 12 DID 1 LocusLink:1389 MAP 1 12p13 NAM 1 cAMP responsive element binding protein-like 2 ORG 1 Homo sapiens SYM 1 CREBL2 ID|HUgn0001389 DID|LocusLink:1389 ORG|Homo sapiens RSQ|REFSEQ:NM_001310 RPA|REFPROT:NP_001301 DBA|XM:NM_001310 |NA:AF039081 |NA:AK002189 PAC|XP:NP_001301 SYM|CREBL2 NAM|cAMP responsive element binding protein-like 2 FNC|cAMP responsive element binding protein-like 2 |transcription ; GO:0006350 |signal transduction ; GO:0007165 REAB|cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search |to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and |CDKN1B genes, frequently associated with hematopoietic malignancies, as well as |breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with |CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain |of CREB. The bZip domain consists of about 30 amino acids rich in basic residues |involved in DNA binding, followed by a leucine zipper motif involved in protein |dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. |The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a |tumor suppressor gene. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13313 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1389[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834487 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001310 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001310 DBL|UNIGENE:Hs.13313 |OMIM:603476 |SNP:1389 MAP|12p13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 192; expect == 1.2e-49; MEOW:ref|XP_342775.1| (96%) } # EOR GENR { RETE|ID 1 HUgn0001390 CHR 1 10 DID 1 LocusLink:1390 MAP 1 10p11.21 NAM 1 cAMP responsive element modulator ORG 1 Homo sapiens SYM 1 CREM ID|HUgn0001390 DID|LocusLink:1390 ORG|Homo sapiens RSQ|REFSEQ:NM_001881 |REFSEQ:NM_181571 |REFSEQ:NM_182717 |REFSEQ:NM_182718 |REFSEQ:NM_182719 |REFSEQ:NM_182720 |REFSEQ:NM_182721 |REFSEQ:NM_182722 |REFSEQ:NM_182723 |REFSEQ:NM_182724 |REFSEQ:NM_182725 |REFSEQ:NM_182769 |REFSEQ:NM_182770 |REFSEQ:NM_182771 |REFSEQ:NM_182772 |REFSEQ:NM_182850 |REFSEQ:NM_182853 |REFSEQ:NM_183011 |REFSEQ:NM_183012 |REFSEQ:NM_183013 |REFSEQ:NM_183060 RPA|REFPROT:NP_001872 |REFPROT:NP_853549 |REFPROT:NP_874386 |REFPROT:NP_874387 |REFPROT:NP_874388 |REFPROT:NP_874389 |REFPROT:NP_874390 |REFPROT:NP_874391 |REFPROT:NP_874392 |REFPROT:NP_874393 |REFPROT:NP_874394 |REFPROT:NP_877570 |REFPROT:NP_877571 |REFPROT:NP_877572 |REFPROT:NP_877573 |REFPROT:NP_878270 |REFPROT:NP_878273 |REFPROT:NP_898829 |REFPROT:NP_898830 |REFPROT:NP_898831 |REFPROT:NP_898883 DBA|XM:NM_001881 |NA:AF212158 |NA:AF213899 |NA:AF217318 |NA:AL117336 |NA:AF069065 |NA:AU140010 |NA:AY292864 |NA:BC017117 |NA:BC041810 |NA:BE439480 |NA:BG573680 |NA:BG719264 |NA:BX379412 |NA:D14825 |NA:D14826 |NA:S68134 |NA:S68271 |NA:U44836 |NA:Y08959 |NA:Z15159 PAC|XP:NP_001872 SYM|CREM NAM|cAMP responsive element modulator SYN|ICER |MGC17881 |MGC41893 FNC|cAMP responsive element modulator isoform a |cAMP responsive element modulator isoform b |cAMP responsive element modulator isoform d |cAMP responsive element modulator isoform e |cAMP responsive element modulator isoform f |cAMP responsive element modulator isoform g |cAMP responsive element modulator isoform h |cAMP responsive element modulator isoform i |cAMP responsive element modulator isoform j |cAMP responsive element modulator isoform k |cAMP responsive element modulator isoform l |cAMP responsive element modulator isoform m |cAMP responsive element modulator isoform n |cAMP responsive element modulator isoform o |cAMP responsive element modulator isoform p |cAMP responsive element modulator isoform q |cAMP responsive element modulator isoform r |cAMP responsive element modulator isoform s |cAMP responsive element modulator isoform t |cAMP responsive element modulator isoform u |cAMP responsive element modulator isoform v |signal transduction ; GO:0007165 REAB|This gene encodes a bZIP transcription factor that binds to the cAMP responsive element |found in many viral and cellular promoters. It is an important component of cAMP-mediated |signal transduction during the spermatogenetic cycle, as well as other complex processes. |Alternative promoter and translation initiation site usage allows this gene to exert |spatial and temporal specificity to cAMP responsiveness. Multiple alternatively |spliced transcript variants encoding several different isoforms have been found |for this gene, with some of them functioning as activators and some as repressors |of transcription. CHR|10 PRD|inducible cAMP early repressor ICER URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=231975 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1390[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269801 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183013 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183013 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=231975 DBL|UNIGENE:Hs.231975 |OMIM:123812 |SNP:1390 MAP|10p11.21 CEL|nucleus ; GO:0005634 HG|species == Human; gene == CREB1; score == 345; expect == 2.0e-95; MEOW:HUgn0001385 (65%) |species == rat; score == 341; expect == 2.9e-94; MEOW:ref|NP_604392.1| (64%) |species == Mouse; gene == Creb1; score == 334; expect == 2.3e-92; MEOW:MGgn0001629 (62%) |species == rat; score == 334; expect == 3.5e-92; MEOW:ref|NP_112279.1| (62%) } # EOR GENR { RETE|ID 1 HUgn0001391 DID 1 LocusLink:1391 NAM 1 CHARGE association ORG 1 Homo sapiens SYM 1 CRG ID|HUgn0001391 DID|LocusLink:1391 ORG|Homo sapiens SYM|CRG NAM|CHARGE association URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265280 } # EOR GENR { RETE|ID 1 HUgn0001392 CHR 1 8 DID 1 LocusLink:1392 MAP 1 8q13 NAM 1 corticotropin releasing hormone ORG 1 Homo sapiens SYM 1 CRH ID|HUgn0001392 DID|LocusLink:1392 ORG|Homo sapiens RSQ|REFSEQ:NM_000756 RPA|REFPROT:NP_000747 DBA|XM:NM_000756 |NA:V00571 |NA:X55962 |NA:X67661 |NA:AK075431 |NA:BC002599 |NA:BC011031 |NA:none PAC|XP:NP_000747 SYM|CRH NAM|corticotropin releasing hormone SYN|CRF FNC|corticotropin releasing hormone precursor |learning and/or memory ; GO:0007611 |parturition ; GO:0007567 |pregnancy ; GO:0007565 |synaptic transmission ; GO:0007268 |immune response ; GO:0006955 |signal transduction ; GO:0007165 REAB|Corticotropin-releasing hormone (CRH) is a 41-amino acid peptide derived from a 191-amino |acid preprohormone. CRH is secreted by the paraventricular nucleus (PVN) of the |hypothalamus in response to stress. Marked reduction in CRH has been observed in |association with Alzheimer disease and autosomal recessive hypothalamic corticotropin |dificiency has multiple and potentially fatal metabolic consequences including hypoglycemia |and hepatitis. In addition to production in the hypothalamus, CRH is also synthesized |in peripheral tissues, such as T lymphocytes and is highly expressed in the placenta. | In the placenta CRH is a marker that determines the length of gestation and the |timing of parturition and delivery. A rapid increase in circulating levels of |CRH occurs at the onset of parturition, suggesting that, in addition to its metabolic |functions, CRH may act as a trigger for parturition. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75294 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1392[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119804 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000756 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000756 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75294 DBL|UNIGENE:Hs.75294 |OMIM:122560 |SNP:1392 MAP|8q13 PHP|ACTH deficiency ENZ|neuropeptide hormone activity ; GO:0005184 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001393 CHR 1 5 DID 1 LocusLink:1393 MAP 1 5q11.2-q13.3 NAM 1 corticotropin releasing hormone binding protein ORG 1 Homo sapiens SYM 1 CRHBP ID|HUgn0001393 DID|LocusLink:1393 ORG|Homo sapiens RSQ|REFSEQ:NM_001882 RPA|REFPROT:NP_001873 DBA|XM:NM_001882 |NA:S60697 |NA:BC018038 |NA:X58022 |NA:none PAC|XP:NP_001873 SYM|CRHBP NAM|corticotropin releasing hormone binding protein SYN|CRFBP |CRF-BP FNC|corticotropin releasing hormone binding protein |learning and/or memory ; GO:0007611 |pregnancy ; GO:0007565 |signal transduction ; GO:0007165 REAB|Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion |of preopiomelanocortin-derived peptides. Although CRH concentrations in the human |peripheral circulation are normally low, they increase throughout pregnancy and |fall rapidly after parturition. Maternal plasma CRH probably originates from the |placenta. Human plasma contains a CRH-binding protein which inactivates CRH and |which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. CHR|5 PRD|corticotropin releasing hormone-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115617 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1393[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127438 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001882 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001882 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115617 DBL|UNIGENE:Hs.115617 |OMIM:122559 |SNP:1393 MAP|5q11.2-q13.3 ENZ|protein binding ; GO:0005515 CEL|soluble fraction ; GO:0005625 HG|species == rat; score == 568; expect == 1e-162; MEOW:ref|NP_631922.1| (84%) } # EOR GENR { RETE|ID 1 HUgn0001394 CHR 1 17 DID 1 LocusLink:1394 MAP 1 17q12-q22 NAM 1 corticotropin releasing hormone receptor 1 ORG 1 Homo sapiens SYM 1 CRHR1 ID|HUgn0001394 DID|LocusLink:1394 ORG|Homo sapiens RSQ|REFSEQ:NM_004382 RPA|REFPROT:NP_004373 DBA|XM:NM_004382 |NA:AF039523 |NA:AF180301 |NA:L23332 |NA:L23333 |NA:U16273 |NA:X72304 |NA:none PAC|XP:NP_004373 SYM|CRHR1 NAM|corticotropin releasing hormone receptor 1 SYN|CRF1 |CRHR |CRF-R |CRFR1 FNC|corticotropin releasing hormone receptor 1 |adenylate cyclase activation ; GO:0007190 |parturition ; GO:0007567 |pregnancy ; GO:0007565 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |immune response ; GO:0006955 REAB|The corticotropin-releasing hormone receptor binds to corticotropin-releasing hormone |(MIM 122560), a potent mediator of endocrine, autonomic, behavioral, and immune |responses to stress.[supplied by OMIM] CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=417628 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1394[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:235922 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004382 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004382 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26874 DBL|UNIGENE:Hs.417628 |OMIM:122561 |SNP:1394 MAP|17q12-q22 ENZ|corticotrophin-releasing factor receptor activity ; GO:0015056 |G-protein coupled receptor activity ; GO:0004930 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Crhr1; score == 743; expect == 0.0; MEOW:MGgn0001639 (97%) |species == rat; score == 739; expect == 0.0; MEOW:ref|NP_112261.1| (97%) |species == Human; gene == CRHR2; score == 554; expect == 3e-158; MEOW:HUgn0001395 (74%) |species == Mosquito; score == 234; expect == 9.7e-62; MEOW:AGgn0014164 (37%) |species == Fruitfly; gene == CG12370; score == 216; expect == 1.5e-56; MEOW:FBgn0033744 (38%) |species == Zfish; gene == pthr1; score == 174; expect == 5.5e-45; MEOW:ZFgn0000649 (33%) |species == Zfish; gene == pthr2; score == 172; expect == 2.1e-44; MEOW:ZFgn0000650 (33%) |species == Zfish; gene == pthr3; score == 159; expect == 1.8e-40; MEOW:ZFgn0000651 (31%) |species == Worm; gene == C18B12.2; score == 131; expect == 5.5e-31; MEOW:CEgn0005098 (30%) } # EOR GENR { RETE|ID 1 HUgn0001395 CHR 1 7 DID 1 LocusLink:1395 MAP 1 7p15.1 NAM 1 corticotropin releasing hormone receptor 2 ORG 1 Homo sapiens SYM 1 CRHR2 ID|HUgn0001395 DID|LocusLink:1395 ORG|Homo sapiens RSQ|REFSEQ:NM_001883 RPA|REFPROT:NP_001874 DBA|XM:NM_001883 |XM:NM_001883 |NA:AC004976 |NA:AF011406 |NA:AF019381 |NA:AF361106 |NA:AF361107 |NA:AF361108 |NA:U34587 |NA:Y10153 |NA:none PAC|XP:NP_001874 |XP:NP_001874 SYM|CRHR2 NAM|corticotropin releasing hormone receptor 2 SYN|CRFR2 FNC|corticotropin releasing hormone receptor 2 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=66578 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1395[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5183270 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001883 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001883 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26875 DBL|UNIGENE:Hs.66578 |OMIM:602034 |SNP:1395 MAP|7p15.1 ENZ|corticotrophin-releasing factor receptor activity ; GO:0015056 |G-protein coupled receptor activity ; GO:0004930 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Crhr2; score == 681; expect == 0.0; MEOW:MGgn0001640 (91%) |species == Human; gene == CRHR1; score == 554; expect == 3e-158; MEOW:HUgn0001394 (74%) |species == Mouse; gene == Crhr1; score == 553; expect == 3e-158; MEOW:MGgn0001639 (74%) |species == rat; score == 551; expect == 2e-157; MEOW:ref|NP_112261.1| (73%) |species == Fruitfly; gene == CG12370; score == 232; expect == 2.0e-61; MEOW:FBgn0033744 (39%) |species == Mosquito; score == 227; expect == 1.2e-59; MEOW:AGgn0014164 (38%) |species == Zfish; gene == pthr1; score == 178; expect == 2.9e-46; MEOW:ZFgn0000649 (31%) |species == Zfish; gene == pthr2; score == 173; expect == 9.3e-45; MEOW:ZFgn0000650 (31%) |species == Zfish; gene == pthr3; score == 168; expect == 2.3e-43; MEOW:ZFgn0000651 (32%) } # EOR GENR { RETE|ID 1 HUgn0001396 CHR 1 7 DID 1 LocusLink:1396 MAP 1 7q11.23 NAM 1 cysteine-rich protein 1 (intestinal) ORG 1 Homo sapiens SYM 1 CRIP1 ID|HUgn0001396 DID|LocusLink:1396 ORG|Homo sapiens RSQ|REFSEQ:NM_001311 RPA|REFPROT:NP_001302 DBA|XM:NM_001311 |NA:BC002738 |NA:U09770 |NA:U58630 |NA:none PAC|XP:NP_001302 SYM|CRIP1 NAM|cysteine-rich protein 1 (intestinal) SYN|CRHP |CRIP |CRP1 FNC|cysteine-rich protein 1 (intestinal) |cell proliferation ; GO:0008283 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|7 PRD|cysteine-rich intestinal protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=423190 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1396[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439373 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001311 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001311 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=423190 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26878 DBL|UNIGENE:Hs.423190 |OMIM:123875 |SNP:1396 MAP|7q11.23 ENZ|zinc ion binding ; GO:0008270 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Crip1; score == 177; expect == 1.1e-45; MEOW:MGgn0001643 (97%) |species == Worm; gene == B0496.7; score == 135; expect == 2.5e-33; MEOW:CEgn0003574 (74%) |species == Human; gene == CRIP2; score == 129; expect == 2.6e-31; MEOW:HUgn0001397 (68%) |species == rat; score == 129; expect == 3.4e-31; MEOW:ref|NP_071946.1| (69%) |species == Worm; gene == F20D12.5; score == 127; expect == 9.0e-31; MEOW:CEgn0008903 (69%) } # EOR GENR { RETE|ID 1 HUgn0001397 CHR 1 14 DID 1 LocusLink:1397 MAP 1 14q32.3 NAM 1 cysteine-rich protein 2 ORG 1 Homo sapiens SYM 1 CRIP2 ID|HUgn0001397 DID|LocusLink:1397 ORG|Homo sapiens RSQ|REFSEQ:NM_001312 RPA|REFPROT:NP_001303 DBA|XM:NM_001312 |NA:AK057837 |NA:AK091845 |NA:BC000434 |NA:BC001931 |NA:BC034151 |NA:D42123 |NA:U36190 |NA:none PAC|XP:NP_001303 SYM|CRIP2 NAM|cysteine-rich protein 2 SYN|CRIP |CRP2 |ESP1 FNC|cysteine-rich protein 2 CHR|14 PRD|Cystein-rich intestinal protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=70327 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1397[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5348585 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001312 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001312 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=70327 DBL|UNIGENE:Hs.70327 |OMIM:601183 |SNP:1397 MAP|14q32.3 ENZ|zinc ion binding ; GO:0008270 HG|species == Mouse; gene == Crip2; score == 435; expect == 6e-123; MEOW:MGgn0015295 (92%) |species == rat; score == 434; expect == 1e-122; MEOW:ref|NP_071946.1| (92%) |species == Human; gene == LOC375509; score == 215; expect == 1.5e-56; MEOW:HUgn0375509 (46%) } # EOR GENR { RETE|ID 1 HUgn0001398 CHR 1 17 DID 1 LocusLink:1398 MAP 1 17p13.3 NAM 1 v-crk sarcoma virus CT10 oncogene homolog (avian) ORG 1 Homo sapiens SYM 1 CRK ID|HUgn0001398 DID|LocusLink:1398 ORG|Homo sapiens RSQ|REFSEQ:NM_005206 |REFSEQ:NM_016823 RPA|REFPROT:NP_005197 |REFPROT:NP_058431 DBA|XM:NM_005206 |XM:NM_016823 |NA:BC008506 |NA:BC009837 |NA:D10656 |NA:none PAC|XP:NP_005197 |XP:NP_058431 SYM|CRK NAM|v-crk sarcoma virus CT10 oncogene homolog (avian) SYN|CRKII FNC|v-crk sarcoma virus CT10 oncogene homolog isoform a |v-crk sarcoma virus CT10 oncogene homolog isoform b REAB|CRK is an adapter protein family member that binds to several tyrosine-phosphorylated |proteins. CRK is involved in several signaling pathways and recruits cytoplasmic |proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. | The N-terminal SH2 domain of CRK functions as a positive regulator of transformation |whereas the C-terminal SH3 domain functions as a negative regulator of transformation. CHR|17 PRD|v-crk avian sarcoma virus CT10 oncogene homolog |avian sarcoma virus CT10 (v-crk) oncogene homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511822 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1398[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134689 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016823 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016823 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511822 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.511822 |OMIM:164762 |SNP:1398 MAP|17p13.3 HG|species == rat; score == 352; expect == 1.1e-97; MEOW:ref|NP_062175.1| (99%) |species == Mouse; gene == Crk; score == 351; expect == 2.5e-97; MEOW:MGgn0001646 (99%) |species == Human; gene == CRKL; score == 223; expect == 4.1e-59; MEOW:HUgn0001399 (60%) |species == Mosquito; gene == LOC10943; score == 164; expect == 3.3e-41; MEOW:AGgn0010943 (49%) |species == Fruitfly; gene == Crk; score == 160; expect == 8.9e-40; MEOW:FBgn0024811 (45%) } # EOR GENR { RETE|ID 1 HUgn0001399 CHR 1 22 DID 1 LocusLink:1399 MAP 1 22q11 NAM 1 v-crk sarcoma virus CT10 oncogene homolog (avian)-like ORG 1 Homo sapiens SYM 1 CRKL ID|HUgn0001399 DID|LocusLink:1399 ORG|Homo sapiens RSQ|REFSEQ:NM_005207 RPA|REFPROT:NP_005198 DBA|XM:NM_005207 |NA:AK000311 |NA:AL049941 |NA:BC026248 |NA:BC033281 |NA:BC043500 |NA:BC044621 |NA:BC053958 |NA:X59656 |NA:none PAC|XP:NP_005198 SYM|CRKL NAM|v-crk sarcoma virus CT10 oncogene homolog (avian)-like FNC|v-crk sarcoma virus CT10 oncogene homolog (avian)-like |JNK cascade ; GO:0007254 |RAS protein signal transduction ; GO:0007265 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 |cell motility ; GO:0006928 REAB|v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. | CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform |fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine |kinase and plays a role in fibroblast transformation by BCR-ABL. In addition, CRKL |has oncogenic potential. CHR|22 PRD|v-crk avian sarcoma virus CT10 oncogene homolog-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5613 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1399[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:226507 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005207 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005207 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5613 DBL|UNIGENE:Hs.5613 |OMIM:602007 |SNP:1399 MAP|22q11 ENZ|protein-tyrosine kinase activity ; GO:0004713 |SH3/SH2 adaptor protein activity ; GO:0005070 |signal transducer activity ; GO:0004871 HG|species == Mouse; gene == Crkl; score == 590; expect == 2e-169; MEOW:MGgn0001647 (96%) |species == rat; score == 589; expect == 7e-169; MEOW:ref|XP_221260.2| (96%) |species == Fruitfly; gene == Crk; score == 244; expect == 3.6e-65; MEOW:FBgn0024811 (44%) |species == Mosquito; gene == LOC10943; score == 229; expect == 1.1e-60; MEOW:AGgn0010943 (45%) |species == Human; gene == CRK; score == 223; expect == 4.1e-59; MEOW:HUgn0001398 (60%) } # EOR GENR { RETE|ID 1 HUgn0001400 CHR 1 4 DID 1 LocusLink:1400 MAP 1 4p16.1-p15 NAM 1 collapsin response mediator protein 1 ORG 1 Homo sapiens SYM 1 CRMP1 ID|HUgn0001400 DID|LocusLink:1400 ORG|Homo sapiens RSQ|REFSEQ:NM_001313 RPA|REFPROT:NP_001304 DBA|XM:NM_001313 |NA:AK094725 |NA:AK122754 |NA:AK127754 |NA:BC000252 |NA:BC007613 |NA:BC007898 |NA:BT006806 |NA:D78012 |NA:U17278 |NA:none PAC|XP:NP_001304 SYM|CRMP1 NAM|collapsin response mediator protein 1 SYN|DRP1 |DRP-1 |DPYSL1 FNC|collapsin response mediator protein 1 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |neurogenesis ; GO:0007399 CHR|4 PRD|collapsin response mediator protein 1 (dihydropyrimidinase-like 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155392 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1400[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5585714 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001313 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001313 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155392 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26885 DBL|UNIGENE:Hs.155392 |OMIM:602462 |SNP:1400 MAP|4p16.1-p15 ENZ|dihydropyrimidinase activity ; GO:0004157 |hydrolase activity ; GO:0016787 HG|species == rat; score == 1023; expect == 0.0; MEOW:ref|NP_037064.1| (96%) |species == Mouse; gene == Crmp1; score == 1018; expect == 0.0; MEOW:MGgn0001651 (96%) |species == Human; gene == DPYSL2; score == 886; expect == 0.0; MEOW:HUgn0001808 (76%) |species == Mouse; gene == Dpysl2; score == 884; expect == 0.0; MEOW:MGgn0003532 (76%) |species == Human; gene == DPYSL3; score == 848; expect == 0.0; MEOW:HUgn0001809 (74%) |species == Mouse; gene == Dpysl3; score == 844; expect == 0.0; MEOW:MGgn0003533 (74%) |species == rat; score == 841; expect == 0.0; MEOW:ref|NP_037066.1| (73%) |species == rat; score == 822; expect == 0.0; MEOW:ref|XP_341954.1| (69%) |species == Human; gene == DPYSL4; score == 820; expect == 0.0; MEOW:HUgn0010570 (69%) |species == Mouse; gene == Dpysl4; score == 815; expect == 0.0; MEOW:MGgn0003534 (69%) |species == Mosquito; score == 490; expect == 8e-139; MEOW:AGgn0003198 (45%) |species == Worm; gene == dhp-2; score == 487; expect == 7e-138; MEOW:CEgn0006677 (48%) |species == Mosquito; score == 475; expect == 2e-134; MEOW:AGgn0027055 (54%) |species == Worm; gene == dhp-1; score == 458; expect == 3e-129; MEOW:CEgn0030453 (46%) |species == rice; score == 386; expect == 2e-107; MEOW:gnl|TIGR|8350.m05558 (44%) |species == ecoli; score == 254; expect == 1.4e-68; MEOW:ref|NP_417349.1| (34%) |species == Weed; gene == At5g12200; score == 166; expect == 1.4e-41; MEOW:ATgn0025330 (41%) |species == Fruitfly; gene == CRMP; score == 133; expect == 1.8e-31; MEOW:FBgn0023023 (50%) } # EOR GENR { RETE|ID 1 HUgn0001401 CHR 1 1 DID 1 LocusLink:1401 MAP 1 1q21-q23 NAM 1 C-reactive protein, pentraxin-related ORG 1 Homo sapiens SYM 1 CRP ID|HUgn0001401 DID|LocusLink:1401 ORG|Homo sapiens RSQ|REFSEQ:NM_000567 RPA|REFPROT:NP_000558 DBA|XM:NM_000567 |NA:AF442818 |NA:AF449713 |NA:M11880 |NA:BC020766 |NA:K00518 |NA:M35163 |NA:X56214 |NA:X56692 |NA:none PAC|XP:NP_000558 SYM|CRP NAM|C-reactive protein, pentraxin-related SYN|PTX1 FNC|C-reactive protein, pentraxin-related |acute-phase response ; GO:0006953 |inflammatory response ; GO:0006954 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76452 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1401[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119071 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000567 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000567 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76452 DBL|UNIGENE:Hs.76452 |OMIM:123260 |SNP:1401 MAP|1q21-q23 ENZ|binding ; GO:0005488 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Crp; score == 310; expect == 2.0e-85; MEOW:MGgn0001661 (66%) |species == rat; score == 283; expect == 6.8e-77; MEOW:ref|NP_058792.1| (61%) |species == Human; gene == APCS; score == 210; expect == 4.2e-55; MEOW:HUgn0000325 (47%) } # EOR GENR { RETE|ID 1 HUgn0001402 CHR 1 1 DID 1 LocusLink:1402 MAP 1 1q21-q23 NAM 1 C-reactive protein pseudogene 1 ORG 1 Homo sapiens SYM 1 CRPP1 ID|HUgn0001402 DID|LocusLink:1402 CLA|Pseudogene ORG|Homo sapiens SYM|CRPP1 NAM|C-reactive protein pseudogene 1 CHR|1 MAP|1q21-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119072 } # EOR GENR { RETE|ID 1 HUgn0001403 CHR 1 7 DID 1 LocusLink:1403 MAP 1 7p21 NAM 1 craniosynostosis ORG 1 Homo sapiens SYM 1 CRS ID|HUgn0001403 DID|LocusLink:1403 ORG|Homo sapiens SYM|CRS NAM|craniosynostosis SYN|CSO CHR|7 DBL|OMIM:123100 MAP|7p21 PHP|Craniosynostosis, type 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119073 } # EOR GENR { RETE|ID 1 HUgn0001404 CHR 1 5 DID 1 LocusLink:1404 MAP 1 5q14.3 NAM 1 cartilage linking protein 1 ORG 1 Homo sapiens SYM 1 CRTL1 ID|HUgn0001404 DID|LocusLink:1404 ORG|Homo sapiens RSQ|REFSEQ:NM_001884 RPA|REFPROT:NP_001875 DBA|XM:NM_001884 |NA:BC057808 |NA:M63579 |NA:U43328 |NA:X17405 |NA:X78076 |NA:none PAC|XP:NP_001875 SYM|CRTL1 NAM|cartilage linking protein 1 SYN|HAPLN1 FNC|cartilage linking protein 1 |cell adhesion ; GO:0007155 CHR|5 PRD|Cartilage link protein |hyaluronan and proteoglycan link protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2799 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1404[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125232 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001884 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001884 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2799 DBL|UNIGENE:Hs.2799 |OMIM:115435 |SNP:1404 MAP|5q14.3 ENZ|hyaluronic acid binding ; GO:0005540 |extracellular matrix structural constituent ; GO:0005201 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 722; expect == 0.0; MEOW:ref|NP_062062.1| (95%) |species == Mouse; gene == Crtl1; score == 720; expect == 0.0; MEOW:MGgn0001668 (95%) |species == Human; gene == HAPLN3; score == 375; expect == 2e-104; MEOW:HUgn0145864 (55%) |species == Human; gene == TM6SF2; score == 353; expect == 8.0e-98; MEOW:HUgn0053345 (50%) |species == Human; gene == BRAL1; score == 313; expect == 7.0e-86; MEOW:HUgn0060484 (45%) } # EOR GENR { RETE|ID 1 HUgn0001405 DID 1 LocusLink:1405 NAM 1 cartilage linking protein 2 ORG 1 Homo sapiens SYM 1 CRTL2 ID|HUgn0001405 DID|LocusLink:1405 ORG|Homo sapiens SYM|CRTL2 NAM|cartilage linking protein 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127114 } # EOR GENR { RETE|ID 1 HUgn0001406 CHR 1 19 DID 1 LocusLink:1406 MAP 1 19q13.3 NAM 1 cone-rod homeobox ORG 1 Homo sapiens SYM 1 CRX ID|HUgn0001406 DID|LocusLink:1406 ORG|Homo sapiens RSQ|REFSEQ:NM_000554 RPA|REFPROT:NP_000545 DBA|XM:NM_000554 |NA:AF024711 |NA:AF335246 |NA:AF335247 |NA:AF335249 |NA:AF335593 |NA:AF335594 |NA:AF335595 |NA:AF442496 |NA:AH012061 |NA:BC009045 |NA:BC016664 |NA:BC053672 |NA:BT007364 |NA:none PAC|XP:NP_000545 SYM|CRX NAM|cone-rod homeobox SYN|CRD |CORD2 FNC|cone-rod homeobox protein |vision ; GO:0007601 |regulation of transcription, DNA-dependent ; GO:0006355 |histogenesis and organogenesis ; GO:0007397 |development ; GO:0007275 |transcription from Pol II promoter ; GO:0006366 REAB|The protein encoded by this gene is a photoreceptor-specific transcription factor |which plays a role in the differentiation of photoreceptor cells. This homeodomain |protein is necessary for the maintenance of normal cone and rod function. Mutations |in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis |type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively |spliced transcript variants of this gene have been described, but the full-length |nature of some variants has not been determined. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249186 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1406[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:333932 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000554 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000554 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=249186 |http://www.geneclinics.org/query?mim=602225 |http://www.retina-international.com/sci-news/crxmut.htm DBL|UNIGENE:Hs.249186 |OMIM:602225 |SNP:1406 MAP|19q13.3 PHP|Cone-rod retinal dystrophy-2 |Leber congenital amaurosis |Retinitis pigmentosa, late-onset dominant ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Otx2; score == 221; expect == 3.6e-58; MEOW:MGgn0008698 (50%) |species == rat; score == 221; expect == 3.6e-58; MEOW:ref|XP_224009.1| (49%) |species == Zfish; gene == otx2; score == 217; expect == 5.2e-57; MEOW:ZFgn0000136 (46%) |species == Human; gene == OTX2; score == 214; expect == 5.9e-56; MEOW:HUgn0005015 (48%) |species == Zfish; gene == otx1; score == 187; expect == 8.7e-48; MEOW:ZFgn0000132 (39%) |species == Zfish; gene == crx; score == 182; expect == 1.0e-47; MEOW:ZFgn0002204 (45%) |species == Human; gene == OTX1; score == 178; expect == 3.6e-45; MEOW:HUgn0005013 (38%) } # EOR GENR { RETE|ID 1 HUgn0001407 CHR 1 12 DID 1 LocusLink:1407 MAP 1 12q23-q24.1 NAM 1 cryptochrome 1 (photolyase-like) ORG 1 Homo sapiens SYM 1 CRY1 ID|HUgn0001407 DID|LocusLink:1407 ORG|Homo sapiens RSQ|REFSEQ:NM_004075 RPA|REFPROT:NP_004066 DBA|XM:NM_004075 |NA:AK098615 |NA:AK125915 |NA:BC017466 |NA:BC030519 |NA:D83702 |NA:D84657 PAC|XP:NP_004066 SYM|CRY1 NAM|cryptochrome 1 (photolyase-like) SYN|PHLL1 FNC|cryptochrome 1 (photolyase-like) CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=151573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1407[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4073036 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004075 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004075 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=151573 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04710 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26904 DBL|UNIGENE:Hs.151573 |OMIM:601933 |SNP:1407 MAP|12q23-q24.1 HG|species == Mouse; gene == Cry1; score == 1142; expect == 0.0; MEOW:MGgn0001670 (93%) |species == rat; score == 1019; expect == 0.0; MEOW:ref|XP_216868.2| (95%) |species == Zfish; gene == cry1a; score == 979; expect == 0.0; MEOW:ZFgn0002227 (88%) |species == Zfish; gene == cry2a; score == 959; expect == 0.0; MEOW:ZFgn0002162 (85%) |species == Zfish; gene == cry1b; score == 958; expect == 0.0; MEOW:ZFgn0002161 (88%) |species == Human; gene == CRY2; score == 889; expect == 0.0; MEOW:HUgn0001408 (81%) |species == rat; score == 886; expect == 0.0; MEOW:ref|NP_596896.1| (80%) |species == Zfish; gene == cry2b; score == 849; expect == 0.0; MEOW:ZFgn0002188 (79%) |species == Zfish; gene == cry3; score == 845; expect == 0.0; MEOW:ZFgn0002189 (77%) |species == Mosquito; gene == LOC13228; score == 771; expect == 0.0; MEOW:AGgn0013228 (74%) |species == Fruitfly; gene == phr6-4; score == 538; expect == 2e-153; MEOW:FBgn0016054 (52%) |species == Weed; gene == At3g15620; score == 498; expect == 5e-141; MEOW:ATgn0013476 (50%) |species == rice; score == 477; expect == 2e-134; MEOW:gnl|TIGR|8351.m00969 (49%) |species == ecoli; score == 139; expect == 2.6e-33; MEOW:ref|NP_415236.1| (25%) } # EOR GENR { RETE|ID 1 HUgn0001408 CHR 1 11 DID 1 LocusLink:1408 MAP 1 11p11.2 NAM 1 cryptochrome 2 (photolyase-like) ORG 1 Homo sapiens SYM 1 CRY2 ID|HUgn0001408 DID|LocusLink:1408 ORG|Homo sapiens RSQ|REFSEQ:NM_021117 RPA|REFPROT:NP_066940 DBA|XM:NM_021117 |NA:AB014558 |NA:BC035161 |NA:BC041814 PAC|XP:NP_066940 SYM|CRY2 NAM|cryptochrome 2 (photolyase-like) SYN|HCRY2 |PHLL2 |KIAA0658 FNC|cryptochrome 2 (photolyase-like) |DNA repair ; GO:0006281 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7278 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1408[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5218408 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021117 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021117 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7278 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0658 DBL|UNIGENE:Hs.7278 |OMIM:603732 |SNP:1408 MAP|11p11.2 ENZ|DNA photolyase activity ; GO:0003913 |lyase activity ; GO:0016829 HG|species == Mouse; gene == Cry2; score == 1125; expect == 0.0; MEOW:MGgn0001671 (96%) |species == rat; score == 1119; expect == 0.0; MEOW:ref|NP_596896.1| (95%) |species == Human; gene == CRY1; score == 889; expect == 0.0; MEOW:HUgn0001407 (81%) |species == Zfish; gene == cry3; score == 889; expect == 0.0; MEOW:ZFgn0002189 (73%) |species == Zfish; gene == cry2a; score == 874; expect == 0.0; MEOW:ZFgn0002162 (80%) |species == Zfish; gene == cry1a; score == 872; expect == 0.0; MEOW:ZFgn0002227 (80%) |species == Zfish; gene == cry1b; score == 859; expect == 0.0; MEOW:ZFgn0002161 (78%) |species == Zfish; gene == cry2b; score == 810; expect == 0.0; MEOW:ZFgn0002188 (74%) |species == Mosquito; gene == LOC13228; score == 764; expect == 0.0; MEOW:AGgn0013228 (71%) |species == Fruitfly; gene == phr6-4; score == 542; expect == 1e-154; MEOW:FBgn0016054 (53%) |species == Weed; gene == At3g15620; score == 494; expect == 6e-140; MEOW:ATgn0013476 (49%) |species == rice; score == 472; expect == 6e-133; MEOW:gnl|TIGR|8351.m00969 (46%) |species == ecoli; score == 155; expect == 6.0e-38; MEOW:ref|NP_415236.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0001409 CHR 1 21 DID 1 LocusLink:1409 MAP 1 21q22.3 NAM 1 crystallin, alpha A ORG 1 Homo sapiens SYM 1 CRYAA ID|HUgn0001409 DID|LocusLink:1409 ORG|Homo sapiens RSQ|REFSEQ:NM_000394 RPA|REFPROT:NP_000385 DBA|XM:NM_000394 |NA:AF026952 |NA:AP001748 |NA:M35629 |NA:L25781 |NA:U05569 |NA:U66584 |NA:X14789 |NA:none PAC|XP:NP_000385 SYM|CRYAA NAM|crystallin, alpha A SYN|CRYA1 FNC|crystallin, alpha A |vision ; GO:0007601 |protein folding ; GO:0006457 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins |are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. |Alpha crystallins can be induced by heat shock and are members of the small heat |shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones |although they do not renature proteins and release them in the fashion of a true |chaperone; instead they hold them in large soluble aggregates. Post-translational |modifications decrease the ability to chaperone. These heterogeneous aggregates |consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. |Two additional functions of alpha crystallins are an autokinase activity and participation |in the intracellular architecture. Alpha-A and alpha-B gene products are differentially |expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed |widely in many tissues and organs. Defects in this gene cause autosomal dominant |congenital cataract (ADCC). CHR|21 PRD|crystallin, alpha-1 |human alphaA-crystallin (CRYA1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184085 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1409[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119074 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000394 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000394 |http://ca.expasy.org/cgi-bin/get-sprot-entry?P02489 DBL|UNIGENE:Hs.184085 |OMIM:123580 |SNP:1409 |UWCM:119074.html MAP|21q22.3 PHP|Cataract, congenital progressive, autosomal recessive |Cataract, zonular central nuclear, autosomal dominant ENZ|structural constituent of eye lens ; GO:0005212 |chaperone activity ; GO:0003754 HG|species == Mouse; gene == Cryaa; score == 327; expect == 1.7e-90; MEOW:MGgn0001672 (83%) |species == Zfish; gene == cryaa; score == 269; expect == 3.0e-74; MEOW:ZFgn0002547 (72%) |species == Human; gene == CRYAB; score == 188; expect == 1.4e-48; MEOW:HUgn0001410 (54%) |species == rat; score == 186; expect == 4.2e-48; MEOW:ref|NP_037067.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0001410 CHR 1 11 DID 1 LocusLink:1410 MAP 1 11q22.3-q23.1 NAM 1 crystallin, alpha B ORG 1 Homo sapiens SYM 1 CRYAB ID|HUgn0001410 DID|LocusLink:1410 ORG|Homo sapiens RSQ|REFSEQ:NM_001885 RPA|REFPROT:NP_001876 DBA|XM:NM_001885 |NA:M28638 |NA:AF007162 |NA:BC007008 |NA:M24906 |NA:S45630 |NA:none PAC|XP:NP_001876 SYM|CRYAB NAM|crystallin, alpha B SYN|CRYA2 |CTPP2 FNC|crystallin, alpha B |vision ; GO:0007601 |muscle contraction ; GO:0006936 |protein folding ; GO:0006457 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins |are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. |Alpha crystallins can be induced by heat shock and are members of the small heat |shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones |although they do not renature proteins and release them in the fashion of a true |chaperone; instead they hold them in large soluble aggregates. Post-translational |modifications decrease the ability to chaperone. These heterogeneous aggregates |consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. |Two additional functions of alpha crystallins are an autokinase activity and participation |in the intracellular architecture. Alpha-A and alpha-B gene products are differentially |expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed |widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs |in many neurological diseases; a missense mutation cosegregated in a family with |a desmin-related myopathy. CHR|11 PRD|heat-shock 20 kD like-protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408767 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1410[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119805 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001885 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001885 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408767 |http://ca.expasy.org/cgi-bin/get-sprot-entry?P02511 DBL|UNIGENE:Hs.408767 |OMIM:123590 |SNP:1410 |UWCM:119805.html MAP|11q22.3-q23.1 PHP|Cataract, posterior polar 2 |Myopathy, cardioskeletal, desmin-related, with cataract ENZ|structural constituent of eye lens ; GO:0005212 |chaperone activity ; GO:0003754 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cryab; score == 354; expect == 1.4e-98; MEOW:MGgn0001673 (97%) |species == rat; score == 353; expect == 2.6e-98; MEOW:ref|NP_037067.1| (97%) |species == Zfish; gene == cryab; score == 208; expect == 1.3e-54; MEOW:ZFgn0000645 (62%) |species == Human; gene == CRYAA; score == 188; expect == 1.4e-48; MEOW:HUgn0001409 (54%) |species == Zfish; gene == cryaa; score == 178; expect == 1.1e-45; MEOW:ZFgn0002547 (53%) |species == Mosquito; gene == LOC18891; score == 129; expect == 4.7e-31; MEOW:AGgn0018891 (45%) } # EOR GENR { RETE|ID 1 HUgn0001411 CHR 1 17 DID 1 LocusLink:1411 MAP 1 17q11.2-q12 NAM 1 crystallin, beta A1 ORG 1 Homo sapiens SYM 1 CRYBA1 ID|HUgn0001411 DID|LocusLink:1411 ORG|Homo sapiens RSQ|REFSEQ:NM_005208 RPA|REFPROT:NP_005199 DBA|XM:NM_005208 |NA:M14301 |NA:M14302 |NA:M14303 |NA:M14306 |NA:U59058 |NA:none PAC|XP:NP_005199 SYM|CRYBA1 NAM|crystallin, beta A1 SYN|CRYB1 FNC|crystallin, beta A3 |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, |the most heterogeneous, differ by the presence of the C-terminal extension (present |in the basic group, none in the acidic group). Beta-crystallins form aggregates |of different sizes and are able to self-associate to form dimers or to form heterodimers |with other beta-crystallins. This gene, a beta acidic group member, encodes two |proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter |protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an |alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal |dominant disease 'zonular cataract with sutural opacities'. CHR|17 PRD|eye lens structural protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=46275 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1411[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119806 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005208 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005208 DBL|UNIGENE:Hs.46275 |OMIM:123610 |SNP:1411 |UWCM:119806.html MAP|17q11.2-q12 PHP|Cataract, congenital zonular, with sutural opacities ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Cryba1; score == 426; expect == 4e-120; MEOW:MGgn0001675 (95%) |species == rat; score == 402; expect == 8e-113; MEOW:ref|XP_340847.1| (96%) |species == Human; gene == CRYBA4; score == 300; expect == 4.3e-82; MEOW:HUgn0001413 (68%) |species == Mouse; gene == Cryba4; score == 292; expect == 8.9e-80; MEOW:MGgn0001677 (66%) |species == Zfish; gene == crybb1; score == 180; expect == 3.3e-47; MEOW:ZFgn0002316 (52%) } # EOR GENR { RETE|ID 1 HUgn0001412 CHR 1 2 DID 1 LocusLink:1412 MAP 1 2q34-q36 NAM 1 crystallin, beta A2 ORG 1 Homo sapiens SYM 1 CRYBA2 ID|HUgn0001412 DID|LocusLink:1412 ORG|Homo sapiens RSQ|REFSEQ:NM_005209 |REFSEQ:NM_057093 |REFSEQ:NM_057094 RPA|REFPROT:NP_005200 |REFPROT:NP_476434 |REFPROT:NP_476435 DBA|XM:NM_005209 |XM:NM_057093 |XM:NM_057094 |NA:X86395 |NA:X86396 |NA:AF166331 |NA:BC006285 |NA:none PAC|XP:NP_005200 |XP:NP_476434 |XP:NP_476435 SYM|CRYBA2 NAM|crystallin, beta A2 FNC|crystallin, beta A2 |biological_process unknown ; GO:0000004 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of the vertebrate eye, which function |to maintain the transparency and refractive index of the lens. Since lens central |fiber cells lose their nuclei during development, these crystallins are made and |then retained throughout life, making them extremely stable proteins. Mammalian |lens crystallins are divided into alpha, beta, and gamma families; beta and gamma |crystallins are also defined as a superfamily. Alpha and beta families are further |divided into acidic and basic groups. Seven protein regions exist in crystallins: |four homologous motifs, a connecting peptide, and N- and C-terminal extensions. |Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal |extension (present in the basic group but absent in the acidic group). Beta-crystallins |form aggregates of different sizes and are able to form homodimers through self-association |or heterodimers with other beta-crystallins. This gene is a beta acidic group member. |Three alternatively spliced transcript variants encoding identical proteins have |been reported. CHR|2 PRD|eye lens structural protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=415790 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1412[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:363578 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_057093 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_057093 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=415790 DBL|UNIGENE:Hs.415790 |OMIM:600836 |SNP:1412 MAP|2q34-q36 ENZ|structural constituent of eye lens ; GO:0005212 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Cryba2; score == 356; expect == 5.1e-99; MEOW:MGgn0001676 (90%) |species == rat; score == 338; expect == 1.4e-93; MEOW:ref|NP_775163.1| (91%) |species == Mouse; gene == Cryba4; score == 226; expect == 6.0e-60; MEOW:MGgn0001677 (55%) |species == Human; gene == CRYBA1; score == 221; expect == 3.0e-58; MEOW:HUgn0001411 (53%) |species == Human; gene == CRYBA4; score == 221; expect == 1.9e-58; MEOW:HUgn0001413 (54%) |species == Mouse; gene == Cryba1; score == 218; expect == 1.9e-57; MEOW:MGgn0001675 (52%) |species == Zfish; gene == crybb1; score == 136; expect == 3.7e-34; MEOW:ZFgn0002316 (46%) } # EOR GENR { RETE|ID 1 HUgn0001413 CHR 1 22 DID 1 LocusLink:1413 MAP 1 22q11.2-q13.1 NAM 1 crystallin, beta A4 ORG 1 Homo sapiens SYM 1 CRYBA4 ID|HUgn0001413 DID|LocusLink:1413 ORG|Homo sapiens RSQ|REFSEQ:NM_001886 RPA|REFPROT:NP_001877 DBA|XM:NM_001886 |NA:S67583 |NA:U59057 |NA:none PAC|XP:NP_001877 SYM|CRYBA4 NAM|crystallin, beta A4 FNC|crystallin, beta A4 |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, |the most heterogeneous, differ by the presence of the C-terminal extension (present |in the basic group, none in the acidic group). Beta-crystallins form aggregates |of different sizes and are able to self-associate to form dimers or to form heterodimers |with other beta-crystallins. This gene, a beta acidic group member, is part of a |gene cluster with beta-B1, beta-B2, and beta-B3. CHR|22 PRD|eye lens structural protein |Crystallin, beta polypeptide A4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57690 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1413[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127890 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001886 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001886 DBL|UNIGENE:Hs.57690 |OMIM:123631 |SNP:1413 MAP|22q11.2-q13.1 ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Cryba4; score == 399; expect == 5e-112; MEOW:MGgn0001677 (91%) |species == Human; gene == CRYBA1; score == 300; expect == 4.3e-82; MEOW:HUgn0001411 (68%) |species == rat; score == 293; expect == 5.3e-80; MEOW:ref|XP_340847.1| (66%) |species == Zfish; gene == crybb1; score == 148; expect == 1.2e-37; MEOW:ZFgn0002316 (42%) } # EOR GENR { RETE|ID 1 HUgn0001414 CHR 1 22 DID 1 LocusLink:1414 MAP 1 22q11.2 NAM 1 crystallin, beta B1 ORG 1 Homo sapiens SYM 1 CRYBB1 ID|HUgn0001414 DID|LocusLink:1414 ORG|Homo sapiens RSQ|REFSEQ:NM_001887 RPA|REFPROT:NP_001878 DBA|XM:NM_001887 |NA:X86398 |NA:BC036790 |NA:U35340 |NA:none PAC|XP:NP_001878 SYM|CRYBB1 NAM|crystallin, beta B1 FNC|crystallin, beta B1 |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, |the most heterogeneous, differ by the presence of the C-terminal extension (present |in the basic group, none in the acidic group). Beta-crystallins form aggregates |of different sizes and are able to self-associate to form dimers or to form heterodimers |with other beta-crystallins. This gene, a beta basic group member, undergoes extensive |cleavage at its N-terminal extension during lens maturation. It is also a member |of a gene cluster with beta-A4, beta-B2, and beta-B3. CHR|22 PRD|eye lens structural protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37135 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1414[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:361644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001887 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001887 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=37135 DBL|UNIGENE:Hs.37135 |OMIM:600929 |SNP:1414 MAP|22q11.2 ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Crybb1; score == 364; expect == 4e-101; MEOW:MGgn0001678 (80%) |species == Zfish; gene == crybb1; score == 253; expect == 4.7e-68; MEOW:ZFgn0002316 (59%) |species == Human; gene == CRYBB3; score == 233; expect == 4.3e-62; MEOW:HUgn0001417 (56%) |species == Human; gene == CRYBB2; score == 211; expect == 2.1e-55; MEOW:HUgn0001415 (55%) |species == Human; gene == CRYBA1; score == 188; expect == 2.1e-48; MEOW:HUgn0001411 (51%) |species == rat; score == 185; expect == 1.2e-47; MEOW:ref|XP_340847.1| (51%) |species == rat; score == 152; expect == 8.5e-38; MEOW:ref|NP_775163.1| (47%) } # EOR GENR { RETE|ID 1 HUgn0001415 CHR 1 22 DID 1 LocusLink:1415 MAP 1 22q11.2-q12.1 NAM 1 crystallin, beta B2 ORG 1 Homo sapiens SYM 1 CRYBB2 ID|HUgn0001415 DID|LocusLink:1415 ORG|Homo sapiens RSQ|REFSEQ:NM_000496 RPA|REFPROT:NP_000487 DBA|XM:NM_000496 |NA:U72400 |NA:U72404 |NA:L10035 |NA:none PAC|XP:NP_000487 SYM|CRYBB2 NAM|crystallin, beta B2 SYN|CCA2 |CRYB2 |CRYB2A |D22S665 FNC|crystallin, beta B2 |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, |the most heterogeneous, differ by the presence of the C-terminal extension (present |in the basic group, none in the acidic group). Beta-crystallins form aggregates |of different sizes and are able to self-associate to form dimers or to form heterodimers |with other beta-crystallins. This gene, a beta basic group member, is part of a |gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was |found to cause type 2 cerulean cataracts. CHR|22 PRD|eye lens structural protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=373074 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1415[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119075 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000496 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000496 DBL|UNIGENE:Hs.373074 |OMIM:123620 |SNP:1415 |UWCM:119075.html MAP|22q11.2-q12.1 PHP|Cataract, cerulean, type 2 |Cataract, sutural, with punctate and cerulean opacities ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Crybb2; score == 386; expect == 4e-108; MEOW:MGgn0001679 (97%) |species == Human; gene == CRYBB3; score == 225; expect == 1.2e-59; MEOW:HUgn0001417 (56%) |species == Human; gene == CRYBB1; score == 211; expect == 2.1e-55; MEOW:HUgn0001414 (55%) |species == Zfish; gene == crybb1; score == 208; expect == 1.1e-55; MEOW:ZFgn0002316 (54%) |species == rat; score == 156; expect == 1.0e-38; MEOW:ref|XP_340847.1| (45%) } # EOR GENR { RETE|ID 1 HUgn0001416 CHR 1 22 DID 1 LocusLink:1416 MAP 1 22q11.2-q12.1 NAM 1 crystallin, beta B2 pseudogene 1 ORG 1 Homo sapiens SYM 1 CRYBB2P1 ID|HUgn0001416 DID|LocusLink:1416 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL008721 SYM|CRYBB2P1 NAM|crystallin, beta B2 pseudogene 1 SYN|CRYB2B CHR|22 MAP|22q11.2-q12.1 DBL|SNP:1416 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127889 } # EOR GENR { RETE|ID 1 HUgn0001417 CHR 1 22 DID 1 LocusLink:1417 MAP 1 22q11.2-q12.1 NAM 1 crystallin, beta B3 ORG 1 Homo sapiens SYM 1 CRYBB3 ID|HUgn0001417 DID|LocusLink:1417 ORG|Homo sapiens RSQ|REFSEQ:NM_004076 RPA|REFPROT:NP_004067 DBA|XM:NM_004076 |NA:X15144 |NA:X15145 |NA:X15146 |NA:Z99916 |NA:U71216 |NA:none PAC|XP:NP_004067 SYM|CRYBB3 NAM|crystallin, beta B3 SYN|CRYB3 FNC|crystallin, beta B3 |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, |the most heterogeneous, differ by the presence of the C-terminal extension (present |in the basic group, none in the acidic group). Beta-crystallins form aggregates |of different sizes and are able to self-associate to form dimers or to form heterodimers |with other beta-crystallins. This gene, a beta basic group member, is part of a |gene cluster with beta-A4, beta-B1, and beta-B2. CHR|22 PRD|eye lens structural protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=198968 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1417[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119807 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004076 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004076 DBL|UNIGENE:Hs.198968 |OMIM:123630 |SNP:1417 MAP|22q11.2-q12.1 ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Crybb3; score == 393; expect == 3e-110; MEOW:MGgn0001680 (91%) |species == Human; gene == CRYBB1; score == 233; expect == 4.3e-62; MEOW:HUgn0001414 (56%) |species == Zfish; gene == crybb1; score == 228; expect == 1.3e-61; MEOW:ZFgn0002316 (56%) |species == Human; gene == CRYBB2; score == 225; expect == 1.2e-59; MEOW:HUgn0001415 (56%) |species == rat; score == 159; expect == 7.9e-40; MEOW:ref|XP_340847.1| (43%) |species == rat; score == 137; expect == 4.2e-33; MEOW:ref|XP_216055.2| (38%) |species == rat; score == 136; expect == 7.2e-33; MEOW:ref|NP_775163.1| (42%) } # EOR GENR { RETE|ID 1 HUgn0001418 CHR 1 2 DID 1 LocusLink:1418 MAP 1 2q33-q35 NAM 1 crystallin, gamma A ORG 1 Homo sapiens SYM 1 CRYGA ID|HUgn0001418 DID|LocusLink:1418 ORG|Homo sapiens RSQ|REFSEQ:NM_014617 RPA|REFPROT:NP_055432 DBA|XM:NM_014617 |NA:M17315 |NA:M17316 |NA:none PAC|XP:NP_055432 SYM|CRYGA NAM|crystallin, gamma A SYN|CRYG1 |CRYG5 |CRY-g-A FNC|crystallin, gamma A |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins |are a homogeneous group of highly symmetrical, monomeric proteins typically lacking |connecting peptides and terminal extensions. They are differentially regulated after |early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three |pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment |as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins |have been involved in cataract formation. CHR|2 PRD|gamma crystallin 5 |crystallin, gamma 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=122566 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1418[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119076 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014617 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014617 DBL|UNIGENE:Hs.122566 |OMIM:123660 |SNP:1418 MAP|2q33-q35 ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Cryga; score == 330; expect == 1.6e-91; MEOW:MGgn0001682 (83%) |species == rat; score == 313; expect == 2.3e-86; MEOW:ref|XP_343583.1| (77%) |species == Mouse; gene == Crygc; score == 307; expect == 1.9e-84; MEOW:MGgn0001684 (74%) |species == rat; score == 297; expect == 1.7e-81; MEOW:ref|XP_217421.2| (74%) |species == Human; gene == CRYGB; score == 287; expect == 1.7e-78; MEOW:HUgn0001419 (73%) |species == Human; gene == CRYGC; score == 287; expect == 3.0e-78; MEOW:HUgn0001420 (74%) |species == rat; score == 284; expect == 1.9e-77; MEOW:ref|NP_149086.1| (72%) |species == Mouse; gene == Cryge; score == 281; expect == 8.5e-77; MEOW:MGgn0001686 (70%) |species == rat; score == 281; expect == 1.3e-76; MEOW:ref|NP_775411.1| (70%) |species == Mouse; gene == Crygd; score == 279; expect == 4.2e-76; MEOW:MGgn0001685 (71%) |species == Mouse; gene == Crygf; score == 279; expect == 3.2e-76; MEOW:MGgn0001687 (69%) |species == rat; score == 276; expect == 3.1e-75; MEOW:ref|XP_217425.2| (69%) |species == Human; gene == CRYGD; score == 274; expect == 1.5e-74; MEOW:HUgn0001421 (72%) } # EOR GENR { RETE|ID 1 HUgn0001419 CHR 1 2 DID 1 LocusLink:1419 MAP 1 2q33-q35 NAM 1 crystallin, gamma B ORG 1 Homo sapiens SYM 1 CRYGB ID|HUgn0001419 DID|LocusLink:1419 ORG|Homo sapiens RSQ|REFSEQ:NM_005210 RPA|REFPROT:NP_005201 DBA|XM:NM_005210 |NA:M11970 |NA:M11971 |NA:M19364 |NA:none PAC|XP:NP_005201 SYM|CRYGB NAM|crystallin, gamma B SYN|CRYG2 FNC|crystallin, gamma B |biological_process unknown ; GO:0000004 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins |are a homogeneous group of highly symmetrical, monomeric proteins typically lacking |connecting peptides and terminal extensions. They are differentially regulated after |early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three |pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment |as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins |have been involved in cataract formation. CHR|2 PRD|crystallin, gamma 1-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=248102 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1419[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119077 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005210 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005210 DBL|UNIGENE:Hs.248102 |OMIM:123670 |SNP:1419 MAP|2q33-q35 ENZ|structural constituent of eye lens ; GO:0005212 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 332; expect == 8.2e-92; MEOW:ref|XP_217421.2| (82%) |species == Human; gene == CRYGC; score == 303; expect == 2.4e-83; MEOW:HUgn0001420 (78%) |species == Mouse; gene == Crygc; score == 302; expect == 6.1e-83; MEOW:MGgn0001684 (75%) |species == rat; score == 298; expect == 7.6e-82; MEOW:ref|XP_343583.1| (74%) |species == rat; score == 297; expect == 2.9e-81; MEOW:ref|NP_149086.1| (75%) |species == Mouse; gene == Cryga; score == 296; expect == 2.6e-81; MEOW:MGgn0001682 (75%) |species == Mouse; gene == Cryge; score == 295; expect == 7.5e-81; MEOW:MGgn0001686 (73%) |species == Mouse; gene == Crygf; score == 295; expect == 7.5e-81; MEOW:MGgn0001687 (73%) |species == rat; score == 295; expect == 1.1e-80; MEOW:ref|NP_775411.1| (73%) |species == Mouse; gene == Crygd; score == 294; expect == 1.4e-80; MEOW:MGgn0001685 (74%) |species == rat; score == 292; expect == 5.6e-80; MEOW:ref|XP_217425.2| (73%) |species == Human; gene == CRYGA; score == 287; expect == 1.7e-78; MEOW:HUgn0001418 (73%) |species == Human; gene == CRYGD; score == 283; expect == 3.3e-77; MEOW:HUgn0001421 (72%) } # EOR GENR { RETE|ID 1 HUgn0001420 CHR 1 2 DID 1 LocusLink:1420 MAP 1 2q33-q35 NAM 1 crystallin, gamma C ORG 1 Homo sapiens SYM 1 CRYGC ID|HUgn0001420 DID|LocusLink:1420 ORG|Homo sapiens RSQ|REFSEQ:NM_020989 RPA|REFPROT:NP_066269 DBA|XM:NM_020989 |NA:K03003 |NA:K03004 |NA:M11972 |NA:M11973 |NA:M19364 |NA:U66582 |NA:none PAC|XP:NP_066269 SYM|CRYGC NAM|crystallin, gamma C SYN|CCL |CRYG3 FNC|crystallin, gamma C |biological_process unknown ; GO:0000004 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins |are a homogeneous group of highly symmetrical, monomeric proteins typically lacking |connecting peptides and terminal extensions. They are differentially regulated after |early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three |pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment |as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins |have been involved in cataract formation. CHR|2 PRD|crystallin, gamma-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72910 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1420[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119078 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020989 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020989 DBL|UNIGENE:Hs.72910 |OMIM:123680 |SNP:1420 |UWCM:119078.html MAP|2q33-q35 PHP|Cataract, Coppock-like |Cataract, variable zonular pulverulent ENZ|structural constituent of eye lens ; GO:0005212 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 326; expect == 3.4e-90; MEOW:ref|XP_343583.1| (85%) |species == Mouse; gene == Crygc; score == 325; expect == 5.1e-90; MEOW:MGgn0001684 (84%) |species == Human; gene == CRYGB; score == 303; expect == 2.4e-83; MEOW:HUgn0001419 (78%) |species == Mouse; gene == Cryga; score == 303; expect == 2.7e-83; MEOW:MGgn0001682 (78%) |species == rat; score == 295; expect == 1.1e-80; MEOW:ref|NP_149086.1| (75%) |species == rat; score == 292; expect == 5.5e-80; MEOW:ref|XP_217425.2| (72%) |species == Mouse; gene == Crygd; score == 290; expect == 2.4e-79; MEOW:MGgn0001685 (74%) |species == Mouse; gene == Cryge; score == 290; expect == 1.4e-79; MEOW:MGgn0001686 (72%) |species == rat; score == 290; expect == 2.1e-79; MEOW:ref|NP_775411.1| (72%) |species == rat; score == 289; expect == 4.6e-79; MEOW:ref|XP_217421.2| (74%) |species == Mouse; gene == Crygf; score == 288; expect == 5.3e-79; MEOW:MGgn0001687 (71%) |species == Human; gene == CRYGA; score == 287; expect == 3.0e-78; MEOW:HUgn0001418 (74%) |species == Human; gene == CRYGD; score == 273; expect == 3.4e-74; MEOW:HUgn0001421 (72%) } # EOR GENR { RETE|ID 1 HUgn0001421 CHR 1 2 DID 1 LocusLink:1421 MAP 1 2q33-q35 NAM 1 crystallin, gamma D ORG 1 Homo sapiens SYM 1 CRYGD ID|HUgn0001421 DID|LocusLink:1421 ORG|Homo sapiens RSQ|REFSEQ:NM_006891 RPA|REFPROT:NP_008822 DBA|XM:NM_006891 |NA:K03005 |NA:K03006 |NA:U66583 |NA:none PAC|XP:NP_008822 SYM|CRYGD NAM|crystallin, gamma D SYN|CACA |CRYG4 |cry-g-D FNC|crystallin, gamma D |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins |are a homogeneous group of highly symmetrical, monomeric proteins typically lacking |connecting peptides and terminal extensions. They are differentially regulated after |early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three |pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment |as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins |have been involved in cataract formation. CHR|2 PRD|gamma crystallin 4 DBL|OMIM:123690 |SNP:1421 |UWCM:119079.html MAP|2q33-q35 PHP|Cataract, crystalline aculeiform |Cataracts, punctate, progressive juvenile-onset URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1421[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119079 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006891 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006891 |http://www.geneclinics.org/query?mim=123690 ENZ|structural constituent of eye lens ; GO:0005212 HG|species == rat; score == 330; expect == 3.1e-91; MEOW:ref|NP_149086.1| (85%) |species == Mouse; gene == Crygd; score == 323; expect == 2.5e-89; MEOW:MGgn0001685 (83%) |species == Mouse; gene == Cryge; score == 315; expect == 4.1e-87; MEOW:MGgn0001686 (80%) |species == rat; score == 315; expect == 6.1e-87; MEOW:ref|NP_775411.1| (80%) |species == Mouse; gene == Crygf; score == 312; expect == 3.4e-86; MEOW:MGgn0001687 (79%) |species == rat; score == 308; expect == 1.3e-84; MEOW:ref|XP_217425.2| (78%) |species == rat; score == 298; expect == 1.0e-81; MEOW:ref|XP_343583.1| (76%) |species == Mouse; gene == Cryga; score == 295; expect == 1.1e-80; MEOW:MGgn0001682 (76%) |species == rat; score == 294; expect == 1.4e-80; MEOW:ref|XP_217421.2| (76%) |species == Mouse; gene == Crygc; score == 290; expect == 2.4e-79; MEOW:MGgn0001684 (73%) |species == Human; gene == CRYGB; score == 283; expect == 3.3e-77; MEOW:HUgn0001419 (72%) |species == Human; gene == CRYGA; score == 274; expect == 1.5e-74; MEOW:HUgn0001418 (72%) |species == Human; gene == CRYGC; score == 273; expect == 3.4e-74; MEOW:HUgn0001420 (72%) } # EOR GENR { RETE|ID 1 HUgn0001423 CHR 1 2 DID 1 LocusLink:1423 MAP 1 2q33-q35 NAM 1 crystallin, gamma F pseudogene 1 ORG 1 Homo sapiens SYM 1 CRYGFP1 ID|HUgn0001423 DID|LocusLink:1423 CLA|Pseudogene ORG|Homo sapiens DBA|NA:K03009 |NA:K03010 SYM|CRYGFP1 NAM|crystallin, gamma F pseudogene 1 SYN|p1 |CRYG6 CHR|2 MAP|2q33-q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119809 } # EOR GENR { RETE|ID 1 HUgn0001424 CHR 1 2 DID 1 LocusLink:1424 MAP 1 2q33-q35 NAM 1 crystallin, gamma G pseudogene 1 ORG 1 Homo sapiens SYM 1 CRYGGP1 ID|HUgn0001424 DID|LocusLink:1424 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X52628 SYM|CRYGGP1 NAM|crystallin, gamma G pseudogene 1 CHR|2 MAP|2q33-q35 DBL|SNP:1424 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136340 } # EOR GENR { RETE|ID 1 HUgn0001427 CHR 1 3 DID 1 LocusLink:1427 MAP 1 3q25-qter NAM 1 crystallin, gamma S ORG 1 Homo sapiens SYM 1 CRYGS ID|HUgn0001427 DID|LocusLink:1427 ORG|Homo sapiens RSQ|REFSEQ:NM_017541 RPA|REFPROT:NP_060011 DBA|XM:NM_017541 |NA:AF242197 |NA:AF242198 |NA:AF161703 |NA:AL133079 |NA:L36869 |NA:none PAC|XP:NP_060011 SYM|CRYGS NAM|crystallin, gamma S SYN|CRYG8 FNC|crystallin, gamma S REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. Since lens central fiber cells |lose their nuclei during development, these crystallins are made and then retained |throughout life, making them extremely stable proteins. Mammalian lens crystallins |are divided into alpha, beta, and gamma families; beta and gamma crystallins are |also considered as a superfamily. Alpha and beta families are further divided into |acidic and basic groups. Seven protein regions exist in crystallins: four homologous |motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins |are a homogeneous group of highly symmetrical, monomeric proteins typically lacking |connecting peptides and terminal extensions. They are differentially regulated after |early development. This gene encodes a protein initially considered to be a beta-crystallin |but the encoded protein is monomeric and has greater sequence similarity to other |gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult |eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins |have been involved in cataract formation. CHR|3 PRD|crystallin, gamma 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=376209 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1427[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119810 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017541 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017541 DBL|UNIGENE:Hs.376209 |OMIM:123730 |SNP:1427 MAP|3q25-qter ENZ|structural constituent of eye lens ; GO:0005212 HG|species == Mouse; gene == Crygs; score == 358; expect == 1.1e-99; MEOW:MGgn0001688 (89%) |species == rat; score == 356; expect == 2.7e-98; MEOW:ref|XP_221321.2| (89%) |species == Human; gene == CRYGB; score == 218; expect == 1.7e-57; MEOW:HUgn0001419 (54%) |species == Human; gene == CRYGC; score == 207; expect == 2.3e-54; MEOW:HUgn0001420 (53%) |species == Human; gene == CRYGA; score == 203; expect == 5.7e-53; MEOW:HUgn0001418 (51%) |species == Human; gene == CRYGD; score == 199; expect == 8.2e-52; MEOW:HUgn0001421 (50%) } # EOR GENR { RETE|ID 1 HUgn0001428 CHR 1 16 DID 1 LocusLink:1428 MAP 1 16p13.11-p12.3 NAM 1 crystallin, mu ORG 1 Homo sapiens SYM 1 CRYM ID|HUgn0001428 DID|LocusLink:1428 ORG|Homo sapiens RSQ|REFSEQ:NM_001888 RPA|REFPROT:NP_001879 DBA|XM:NM_001888 |NA:AF001550 |NA:AF039397 |NA:BC008398 |NA:BC018061 |NA:BX648477 |NA:L02950 |NA:U85772 |NA:none PAC|XP:NP_001879 SYM|CRYM NAM|crystallin, mu SYN|THBP |DFNA40 FNC|crystallin, mu |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. The former class is also called |phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin |protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. |In humans, the encoded cytosolic protein does not perform a structural role in lens |tissue. Instead it binds thyroid hormone for possible regulatory or developmental |roles. CHR|16 PRD|NADP-regulated thyroid-hormone binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=924 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1428[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136047 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001888 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001888 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=924 DBL|UNIGENE:Hs.924 |OMIM:123740 |SNP:1428 MAP|16p13.11-p12.3 PHP|Deafness, autosomal dominant 40 ENZ|ornithine cyclodeaminase activity ; GO:0008473 HG|species == Mouse; gene == Crym; score == 552; expect == 5e-158; MEOW:MGgn0001689 (88%) |species == rice; score == 135; expect == 8.2e-32; MEOW:gnl|TIGR|8362.m03130 (34%) } # EOR GENR { RETE|ID 1 HUgn0001429 CHR 1 1 DID 1 LocusLink:1429 MAP 1 1p31-p22 NAM 1 crystallin, zeta (quinone reductase) ORG 1 Homo sapiens SYM 1 CRYZ ID|HUgn0001429 DID|LocusLink:1429 ORG|Homo sapiens RSQ|REFSEQ:NM_001889 RPA|REFPROT:NP_001880 DBA|XM:NM_001889 |NA:L31521 |NA:AK128794 |NA:BC039578 |NA:BX647883 |NA:L13278 |NA:none PAC|XP:NP_001880 SYM|CRYZ NAM|crystallin, zeta (quinone reductase) FNC|crystallin, zeta |vision ; GO:0007601 REAB|Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. |The latter class constitutes the major proteins of vertebrate eye lens and maintains |the transparency and refractive index of the lens. The former class is also called |phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin |protein which has NADPH-dependent quinone reductase activity distinct from other |known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity |it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike |other mammalian species, in humans, lens expression is low. One pseudogene is known |to exist. CHR|1 PRD|NADPH:quinone reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83114 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1429[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139194 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001889 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001889 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83114 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26925 DBL|UNIGENE:Hs.83114 |OMIM:123691 |SNP:1429 ENZ|EC:1.6.5.5 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |NADPH:quinone reductase activity ; GO:0003960 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|1p31-p22 HG|species == Mouse; gene == Cryz; score == 543; expect == 2e-155; MEOW:MGgn0001690 (80%) |species == rat; score == 529; expect == 1e-150; MEOW:ref|XP_342364.1| (76%) |species == Human; gene == LOC374982; score == 323; expect == 2.1e-89; MEOW:HUgn0374982 (98%) |species == Worm; gene == F39B2.3; score == 240; expect == 1.2e-63; MEOW:CEgn0010361 (41%) |species == rice; score == 158; expect == 5.2e-39; MEOW:gnl|TIGR|8360.m00019 (29%) |species == Weed; gene == At4g21580; score == 157; expect == 7.4e-39; MEOW:ATgn0018620 (31%) |species == Weed; gene == At5g61510; score == 157; expect == 9.9e-39; MEOW:ATgn0021669 (29%) |species == Zfish; gene == vat1; score == 147; expect == 3.2e-37; MEOW:ZFgn0013307 (29%) |species == ecoli; score == 146; expect == 2.1e-36; MEOW:ref|NP_418475.1| (29%) |species == rice; score == 140; expect == 2.7e-33; MEOW:gnl|TIGR|8351.m05393 (29%) |species == Mosquito; score == 132; expect == 1.9e-31; MEOW:AGgn0000280 (30%) } # EOR GENR { RETE|ID 1 HUgn0001430 DID 1 LocusLink:1430 NAM 1 crystallin, zeta (quinone reductase) pseudogene 1 ORG 1 Homo sapiens SYM 1 CRYZP1 ID|HUgn0001430 DID|LocusLink:1430 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L31527 SYM|CRYZP1 NAM|crystallin, zeta (quinone reductase) pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:371752 } # EOR GENR { RETE|ID 1 HUgn0001431 CHR 1 12 DID 1 LocusLink:1431 MAP 1 12q13.2-q13.3 NAM 1 citrate synthase ORG 1 Homo sapiens SYM 1 CS ID|HUgn0001431 DID|LocusLink:1431 ORG|Homo sapiens RSQ|REFSEQ:NM_004077 |REFSEQ:NM_198324 RPA|REFPROT:NP_004068 |REFPROT:NP_938083 DBA|XM:NM_004077 |NA:AF047042 |NA:AK074956 |NA:AK095856 |NA:AK098177 |NA:AL713477 |NA:BC000105 |NA:BC010106 |NA:BI258893 |NA:BI553413 |NA:BX640838 |NA:CB990178 |NA:none PAC|XP:NP_004068 SYM|CS NAM|citrate synthase FNC|citrate synthase precursor isoform a |citrate synthase precursor isoform b |tricarboxylic acid cycle ; GO:0006099 REAB|The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that |catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The |enzyme is found in nearly all cells capable of oxidative metablism. This protein |is nuclear encoded and transported into the mitochondrial matrix, where the mature |form is found. CHR|12 PRD|citrate synthase, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430606 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1431[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119082 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198324 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198324 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=430606 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1431 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00630 DBL|UNIGENE:Hs.430606 |OMIM:118950 |SNP:1431 ENZ|EC:2.3.3.1 |citrate (Si)-synthase activity ; GO:0004108 |transferase activity ; GO:0016740 MAP|12q13.2-q13.3 CEL|mitochondrion ; GO:0005739 HG|species == Human; gene == LOC284438; score == 893; expect == 0.0; MEOW:HUgn0284438 (96%) |species == Mouse; gene == Cs; score == 876; expect == 0.0; MEOW:MGgn0001692 (94%) |species == rat; score == 875; expect == 0.0; MEOW:ref|NP_570111.1| (94%) |species == Mouse; gene == 1700007H16Rik; score == 852; expect == 0.0; MEOW:MGgn0017159 (89%) |species == rat; score == 810; expect == 0.0; MEOW:ref|XP_235086.2| (87%) |species == Mosquito; gene == LOC15768; score == 704; expect == 0.0; MEOW:AGgn0015768 (74%) |species == Fruitfly; gene == CG3861; score == 667; expect == 0.0; MEOW:FBgn0029869 (73%) |species == Weed; gene == At2g44350; score == 580; expect == 7e-166; MEOW:ATgn0009296 (62%) |species == Yeast; gene == CIT1; score == 576; expect == 2e-165; MEOW:SGgn0005284 (62%) |species == Weed; gene == At3g60100; score == 567; expect == 7e-162; MEOW:ATgn0013139 (63%) |species == Yeast; gene == CIT2; score == 548; expect == 7e-157; MEOW:SGgn0000598 (59%) |species == rice; score == 486; expect == 3e-137; MEOW:gnl|TIGR|8351.m00874 (54%) } # EOR GENR { RETE|ID 1 HUgn0001432 CHR 1 6 DID 1 LocusLink:1432 MAP 1 6p21.3-p21.2 NAM 1 mitogen-activated protein kinase 14 ORG 1 Homo sapiens SYM 1 MAPK14 ID|HUgn0001432 DID|LocusLink:1432 ORG|Homo sapiens RSQ|REFSEQ:NM_001315 |REFSEQ:NM_139012 |REFSEQ:NM_139013 |REFSEQ:NM_139014 RPA|REFPROT:NP_001306 |REFPROT:NP_620581 |REFPROT:NP_620582 |REFPROT:NP_620583 DBA|XM:NM_001315 |XM:NM_139012 |XM:NM_139013 |XM:NM_139014 |NA:U19775 |NA:Z95152 |NA:AB074150 |NA:AF100544 |NA:BC000092 |NA:BC031574 |NA:BT006933 |NA:L35263 |NA:L35264 |NA:Z25432 |NA:none PAC|XP:NP_001306 |XP:NP_620581 |XP:NP_620582 |XP:NP_620583 SYM|MAPK14 NAM|mitogen-activated protein kinase 14 SYN|RK |p38 |EXIP |Mxi2 |CSBP1 |CSBP2 |CSPB1 |PRKM14 |PRKM15 |SAPK2A |p38ALPHA FNC|mitogen-activated protein kinase 14 isoform 1 |mitogen-activated protein kinase 14 isoform 2 |mitogen-activated protein kinase 14 isoform 3 |mitogen-activated protein kinase 14 isoform 4 |protein kinase cascade ; GO:0007243 |chemotaxis ; GO:0006935 |response to stress ; GO:0006950 |protein amino acid phosphorylation ; GO:0006468 |cell surface receptor linked signal transduction ; GO:0007166 |cell motility ; GO:0006928 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The protein encoded by this gene is a member of the MAP kinase family. MAP kinases |act as an integration point for multiple biochemical signals, and are involved in |a wide variety of cellular processes such as proliferation, differentiation, transcription |regulation and development. This kinase is activated by various environmental stresses |and proinflammatory cytokines. The activation requires its phosphorylation by MAP |kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of |MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription |regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor |p53, which suggest the roles of this kinase in stress related transcription and |cell cycle regulation, as well as in genotoxic stress response. Four alternatively |spliced transcript variants of this gene encoding distinct isoforms have been reported. CHR|6 PRD|p38alpha Exip |p38 MAP kinase |MAP kinase Mxi2 |Csaids binding protein |MAX-interacting protein 2 |stress-activated protein kinase 2A |p38 mitogen activated protein kinase |cytokine suppressive anti-inflammatory drug binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1432[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439049 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_139012 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_139012 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79107 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.79107 |OMIM:600289 |SNP:1432 MAP|6p21.3-p21.2 ENZ|MAP kinase kinase activity ; GO:0004708 |MAP kinase activity ; GO:0004707 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |MP kinase activity ; GO:0008339 |transferase activity ; GO:0016740 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == chimp; score == 704; expect == 0.0; MEOW:sp|Q95NE7|MK14_PANTR (100%) |species == Mouse; gene == Mapk14; score == 669; expect == 0.0; MEOW:MGgn0007391 (95%) |species == rat; score == 666; expect == 0.0; MEOW:ref|NP_112282.1| (94%) |species == Zfish; gene == mapk14a; score == 635; expect == 0.0; MEOW:ZFgn0002032 (89%) |species == Zfish; gene == mapk14b; score == 608; expect == 7e-176; MEOW:ZFgn0003851 (92%) |species == Mosquito; gene == LOC14018; score == 525; expect == 2e-149; MEOW:AGgn0014018 (72%) |species == Human; gene == MAPK11; score == 520; expect == 4e-148; MEOW:HUgn0005600 (73%) |species == Fruitfly; gene == p38b; score == 513; expect == 8e-146; MEOW:FBgn0024846 (69%) |species == Fruitfly; gene == Mpk2; score == 495; expect == 1e-140; MEOW:FBgn0015765 (68%) |species == Human; gene == MAPK12; score == 478; expect == 2e-135; MEOW:HUgn0006300 (63%) |species == Worm; gene == pmk-1; score == 458; expect == 2e-129; MEOW:CEgn0003237 (65%) |species == Human; gene == MAPK13; score == 426; expect == 8e-120; MEOW:HUgn0005603 (61%) |species == Worm; gene == pmk-2; score == 394; expect == 7e-110; MEOW:CEgn0031161 (54%) |species == Yeast; gene == HOG1; score == 369; expect == 2e-102; MEOW:SGgn0004103 (52%) |species == Weed; gene == At4g01370; score == 332; expect == 2.7e-91; MEOW:ATgn0017422 (50%) |species == Weed; gene == At1g01560; score == 325; expect == 3.2e-89; MEOW:ATgn0002373 (49%) |species == Weed; gene == At3g45640; score == 325; expect == 3.2e-89; MEOW:ATgn0012613 (45%) |species == rice; score == 323; expect == 1.3e-88; MEOW:gnl|TIGR|8354.m00506 (47%) |species == Weed; gene == At2g43790; score == 316; expect == 1.2e-86; MEOW:ATgn0008888 (46%) |species == rice; score == 316; expect == 1.4e-86; MEOW:gnl|TIGR|8360.m01611 (46%) |species == rice; score == 314; expect == 4.6e-86; MEOW:gnl|TIGR|8362.m03132 (47%) |species == Weed; gene == At2g46070; score == 313; expect == 7.5e-86; MEOW:ATgn0010558 (48%) |species == rice; score == 311; expect == 5.2e-85; MEOW:gnl|TIGR|8356.m00516 (47%) |species == Weed; gene == At3g59790; score == 307; expect == 9.8e-84; MEOW:ATgn0013063 (45%) |species == Weed; gene == At1g07880; score == 304; expect == 5.7e-83; MEOW:ATgn0001946 (46%) |species == Weed; gene == At4g36450; score == 304; expect == 5.7e-83; MEOW:ATgn0017358 (44%) |species == Weed; gene == At2g18170; score == 298; expect == 4.2e-81; MEOW:ATgn0008123 (45%) |species == Yeast; gene == FUS3; score == 296; expect == 1.2e-80; MEOW:SGgn0000112 (44%) |species == Weed; gene == At1g59580; score == 291; expect == 5.0e-79; MEOW:ATgn0003678 (46%) |species == rice; score == 287; expect == 1.6e-77; MEOW:gnl|TIGR|8351.m00452 (44%) |species == Weed; gene == At1g10210; score == 286; expect == 1.6e-77; MEOW:ATgn0004101 (45%) |species == rice; score == 286; expect == 2.7e-77; MEOW:gnl|TIGR|8354.m04548 (44%) |species == rice; score == 261; expect == 1.2e-69; MEOW:gnl|TIGR|8354.m04630 (41%) } # EOR GENR { RETE|ID 1 HUgn0001433 CHR 1 1 DID 1 LocusLink:1433 MAP 1 1p31 NAM 1 choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) ORG 1 Homo sapiens SYM 1 CSE ID|HUgn0001433 DID|LocusLink:1433 ORG|Homo sapiens SYM|CSE NAM|choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) SYN|DYT9 CHR|1 DBL|OMIM:601042 MAP|1p31 PHP|Choreoathetosis/spasticity, episodic URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:596182 } # EOR GENR { RETE|ID 1 HUgn0001434 CHR 1 20 DID 1 LocusLink:1434 MAP 1 20q13 NAM 1 CSE1 chromosome segregation 1-like (yeast) ORG 1 Homo sapiens SYM 1 CSE1L ID|HUgn0001434 DID|LocusLink:1434 ORG|Homo sapiens RSQ|REFSEQ:NM_001316 |REFSEQ:NM_177436 RPA|REFPROT:NP_001307 |REFPROT:NP_803185 DBA|XM:NM_001316 |XM:NM_177436 |NA:AF053645 |NA:AF053651 |NA:AF053640 |NA:AF053641 |NA:AF053642 |NA:AK098618 |NA:BG392946 |NA:U33286 |NA:none PAC|XP:NP_001307 |XP:NP_803185 SYM|CSE1L NAM|CSE1 chromosome segregation 1-like (yeast) SYN|CAS |CSE1 |XPO2 FNC|CSE1 chromosome segregation 1-like protein isoform a |CSE1 chromosome segregation 1-like protein isoform b |protein-nucleus import, docking ; GO:0000059 |intracellular protein transport ; GO:0006886 |apoptosis ; GO:0006915 |cell proliferation ; GO:0008283 REAB|Proteins that carry a nuclear localization signal (NLS) are transported into the |nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while |importin-beta mediates translocation through the nuclear pore complex. After translocation, |RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then |be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded |by this gene binds strongly to NLS-free importin-alpha, and this binding is released |in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the |encoded protein may play a role both in apoptosis and in cell proliferation. Multiple |transcript variants encoding several different isoforms have been described for |this gene. CHR|20 PRD|importin-alpha re-exporter |cellular apoptosis susceptibility protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90073 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1434[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696213 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001316 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001316 DBL|UNIGENE:Hs.90073 |OMIM:601342 |SNP:1434 MAP|20q13 ENZ|importin-alpha export receptor activity ; GO:0008262 |protein transporter activity ; GO:0008565 CEL|nuclear pore ; GO:0005643 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Cse1l; score == 1807; expect == 0.0; MEOW:MGgn0001693 (99%) |species == rat; score == 1795; expect == 0.0; MEOW:ref|XP_342582.1| (98%) |species == Mosquito; gene == LOC18477; score == 1087; expect == 0.0; MEOW:AGgn0018477 (55%) |species == Fruitfly; gene == Cas; score == 994; expect == 0.0; MEOW:FBgn0022213 (51%) |species == Weed; gene == At2g46520; score == 695; expect == 0.0; MEOW:ATgn0010658 (39%) |species == Yeast; gene == CSE1; score == 578; expect == 5e-165; MEOW:SGgn0003207 (36%) |species == rice; score == 236; expect == 8.0e-62; MEOW:gnl|TIGR|8350.m01249 (34%) } # EOR GENR { RETE|ID 1 HUgn0001435 CHR 1 1 DID 1 LocusLink:1435 MAP 1 1p21-p13 NAM 1 colony stimulating factor 1 (macrophage) ORG 1 Homo sapiens SYM 1 CSF1 ID|HUgn0001435 DID|LocusLink:1435 ORG|Homo sapiens RSQ|REFSEQ:NM_000757 |REFSEQ:NM_172210 |REFSEQ:NM_172211 |REFSEQ:NM_172212 RPA|REFPROT:NP_000748 |REFPROT:NP_757349 |REFPROT:NP_757350 |REFPROT:NP_757351 DBA|XM:NM_000757 |XM:NM_172210 |XM:NM_172211 |XM:NM_172212 |NA:M11038 |NA:M11295 |NA:M11296 |NA:BC021117 |NA:M27087 |NA:M37435 |NA:M64592 |NA:M76453 |NA:U22386 |NA:X05825 |NA:none PAC|XP:NP_000748 |XP:NP_757349 |XP:NP_757350 |XP:NP_757351 SYM|CSF1 NAM|colony stimulating factor 1 (macrophage) SYN|MCSF |MGC31930 FNC|colony stimulating factor 1 isoform a precursor |colony stimulating factor 1 isoform b precursor |colony stimulating factor 1 isoform c precursor |positive regulation of cell proliferation ; GO:0008284 |cell proliferation ; GO:0008283 |hemopoiesis ; GO:0030097 |cell differentiation ; GO:0030154 |macrophage differentiation ; GO:0030225 REAB|The protein encoded by this gene is a cytokine that controls the production, differentiation, |and function of macrophages. The active form of the protein is found extracellularly |as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage |of membrane-bound precursors. The encoded protein may be involved in development |of the placenta. Four transcript variants encoding three different isoforms have |been found for this gene. CHR|1 PRD|macrophage colony stimulating factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=173894 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1435[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119811 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000757 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000757 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=173894 DBL|UNIGENE:Hs.173894 |OMIM:120420 |SNP:1435 MAP|1p21-p13 ENZ|macrophage colony stimulating factor receptor binding ; GO:0005157 CEL|integral to membrane ; GO:0016021 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Csf1; score == 715; expect == 0.0; MEOW:MGgn0001694 (70%) |species == rat; score == 634; expect == 0.0; MEOW:ref|NP_076471.2| (62%) } # EOR GENR { RETE|ID 1 HUgn0001436 CHR 1 5 DID 1 LocusLink:1436 MAP 1 5q33-q35 NAM 1 colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog ORG 1 Homo sapiens SYM 1 CSF1R ID|HUgn0001436 DID|LocusLink:1436 ORG|Homo sapiens RSQ|REFSEQ:NM_005211 RPA|REFPROT:NP_005202 DBA|XM:NM_005211 |NA:M11067 |NA:U63963 |NA:BC047521 |NA:BX648599 |NA:M14193 |NA:M25786 |NA:X03663 |NA:none PAC|XP:NP_005202 SYM|CSF1R NAM|colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog SYN|FMS |CSFR |FIM2 |C-FMS |CD115 FNC|colony stimulating factor 1 receptor precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |development ; GO:0007275 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The protein encoded by this gene is the receptor for colony stimulating factor 1, |a cytokine which controls the production, differentiation, and function of macrophages. |This receptor mediates most if not all of the biological effects of this cytokine. |Ligand binding activates the receptor kinase through a process of oligomerization |and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane |receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. |Mutations in this gene have been associated with a predisposition to myeloid malignancy. |The first intron of this gene contains a transcriptionally inactive ribosomal protein |L7 processed pseudogene oriented in the opposite direction. CHR|5 PRD|CD115 antigen |FMS proto-oncogene |macrophage colony stimulating factor I receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=174142 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1436[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120600 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005211 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005211 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=174142 DBL|UNIGENE:Hs.174142 |OMIM:164770 |SNP:1436 |PROW:1999017666 |UWCM:120600.html ENZ|EC:2.7.1.112 |macrophage colony stimulating factor receptor activity ; GO:0005011 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|5q33-q35 PHP|Myeloid malignancy, predisposition to CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Csf1r; score == 1400; expect == 0.0; MEOW:MGgn0001695 (73%) |species == rat; score == 1219; expect == 0.0; MEOW:ref|XP_225897.2| (78%) |species == Zfish; gene == csf1r; score == 754; expect == 0.0; MEOW:ZFgn0001968 (45%) |species == Zfish; gene == kit; score == 674; expect == 0.0; MEOW:ZFgn0000153 (42%) |species == Human; gene == KIT; score == 655; expect == 0.0; MEOW:HUgn0003815 (41%) |species == Fruitfly; gene == Pvr; score == 259; expect == 3.0e-69; MEOW:FBgn0032006 (39%) |species == Mosquito; gene == LOC13218; score == 248; expect == 6.6e-66; MEOW:AGgn0013218 (37%) |species == Fruitfly; gene == btl; score == 244; expect == 1.0e-64; MEOW:FBgn0005592 (40%) |species == Fruitfly; gene == htl; score == 240; expect == 1.5e-63; MEOW:FBgn0010389 (38%) |species == Worm; gene == egl-15; score == 239; expect == 3.8e-63; MEOW:CEgn0000492 (39%) |species == Worm; gene == F58A3.2d; score == 238; expect == 8.5e-63; MEOW:CEgn0032211 (39%) |species == Mosquito; gene == LOC3182; score == 229; expect == 4.2e-60; MEOW:AGgn0003182 (38%) |species == Mosquito; score == 229; expect == 4.2e-60; MEOW:AGgn0026153 (38%) |species == Fruitfly; gene == Ret; score == 228; expect == 7.5e-60; MEOW:FBgn0011829 (38%) } # EOR GENR { RETE|ID 1 HUgn0001437 CHR 1 5 DID 1 LocusLink:1437 MAP 1 5q31.1 NAM 1 colony stimulating factor 2 (granulocyte-macrophage) ORG 1 Homo sapiens SYM 1 CSF2 ID|HUgn0001437 DID|LocusLink:1437 ORG|Homo sapiens RSQ|REFSEQ:NM_000758 RPA|REFPROT:NP_000749 DBA|XM:NM_000758 |NA:AC004511 |NA:M13207 |NA:X03021 |NA:AF510855 |NA:M10663 |NA:M11220 |NA:M11734 |NA:none PAC|XP:NP_000749 SYM|CSF2 NAM|colony stimulating factor 2 (granulocyte-macrophage) SYN|GMCSF FNC|colony stimulating factor 2 precursor |cell surface receptor linked signal transduction ; GO:0007166 |cellular defense response ; GO:0006968 |development ; GO:0007275 REAB|The protein encoded by this gene is a cytokine that controls the production, differentiation, |and function of granulocytes and macrophages. The active form of the protein is |found extracellularly as a homodimer. This gene has been localized to a cluster |of related genes at chromosome region 5q31, which is known to be associated with |interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other |genes in the cluster include those encoding interleukins 4, 5, and 13. CHR|5 PRD|molgramostin |sargramostim |granulocyte-macrophage colony stimulating factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1349 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1437[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119812 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000758 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000758 DBL|UNIGENE:Hs.1349 |OMIM:138960 |SNP:1437 MAP|5q31.1 ENZ|granulocyte macrophage colony-stimulating factor receptor binding ; GO:0005129 |cytokine activity ; GO:0005125 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 176; expect == 7.9e-45; MEOW:ref|XP_340800.1| (62%) |species == Mouse; gene == Csf2; score == 151; expect == 1.2e-37; MEOW:MGgn0001698 (55%) } # EOR GENR { RETE|ID 1 HUgn0001438 CHR 1 X DID 1 LocusLink:1438 MAP 1 Xp22.32 and Yp11.3 NAM 1 colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) ORG 1 Homo sapiens SYM 1 CSF2RA ID|HUgn0001438 DID|LocusLink:1438 ORG|Homo sapiens RSQ|REFSEQ:NM_006140 |REFSEQ:NM_172245 |REFSEQ:NM_172246 |REFSEQ:NM_172247 |REFSEQ:NM_172248 |REFSEQ:NM_172249 RPA|REFPROT:NP_006131 |REFPROT:NP_758448 |REFPROT:NP_758449 |REFPROT:NP_758450 |REFPROT:NP_758451 |REFPROT:NP_758452 DBA|NA:D26628 |NA:S48475 |NA:S48539 |NA:AL833597 |NA:BC002635 |NA:BM149332 |NA:L29348 |NA:L29349 |NA:M64445 |NA:M73832 |NA:U93096 |NA:X17648 |NA:X54935 |NA:none SYM|CSF2RA NAM|colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) SYN|GMR |CD116 |CDw116 |CSF2RX |CSF2RY |GMCSFR |CSF2RAX |CSF2RAY |MGC3848 |MGC4838 |GM-CSF-R-alpha FNC|colony stimulating factor 2 receptor alpha chain isoform a precursor |colony stimulating factor 2 receptor alpha chain isoform b precursor |colony stimulating factor 2 receptor alpha chain isoform c precursor |colony stimulating factor 2 receptor alpha chain isoform d precursor |colony stimulating factor 2 receptor alpha chain isoform e precursor REAB|The protein encoded by this gene is the alpha subunit of the heterodimeric receptor |for colony stimulating factor 2, a cytokine which controls the production, differentiation, |and function of granulocytes and macrophages. The encoded protein is a member of |the cytokine family of receptors. This gene is found in the pseudoautosomal region |(PAR) of the X and Y chromosomes. Six transcript variants encoding five different |isoforms have been found for this gene, with some of the isoforms being membrane-bound |and others being soluble. CHR|X |Y PRD|CD116 antigen |GM-CSF receptor alpha subunit |granulocyte-macrophage colony-stimulating factor receptor alpha chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=520937 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118777 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006140 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006140 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=520937 DBL|UNIGENE:Hs.520937 |OMIM:306250 |OMIM:425000 |SNP:1438 |PROW:1361145724 |IXDB:521001 MAP|Xp22.32 and Yp11.3 PHP|Leukemia, acute myeloid, M2 type ENZ|receptor activity ; GO:0004872 |hematopoietin/interferon-class (D200-domain) cytokine receptor activity ; GO:0004896 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Csf2ra; score == 213; expect == 7.6e-56; MEOW:MGgn0001699 (34%) |species == Human; gene == IL3RA; score == 171; expect == 8.6e-43; MEOW:HUgn0003563 (31%) } # EOR GENR { RETE|ID 1 HUgn0001439 CHR 1 22 DID 1 LocusLink:1439 MAP 1 22q13.1 NAM 1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) ORG 1 Homo sapiens SYM 1 CSF2RB ID|HUgn0001439 DID|LocusLink:1439 ORG|Homo sapiens RSQ|REFSEQ:NM_000395 RPA|REFPROT:NP_000386 DBA|XM:NM_000395 |NA:M59941 |NA:none PAC|XP:NP_000386 SYM|CSF2RB NAM|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) SYN|CD131 |IL3RB |IL5RB |CDw131 FNC|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |respiratory gaseous exchange ; GO:0007585 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|CSF2RB is a common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. | Defective CSF2RB has been reported to be associated with protein alveolar proteinosis CHR|22 PRD|Colony-stimulating factor-2 receptor, beta, low-affinity |interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=285401 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1439[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126838 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000395 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000395 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26939 DBL|UNIGENE:Hs.285401 |OMIM:138981 |SNP:1439 |PROW:1329966582 MAP|22q13.1 PHP|Pulmonary alveolar proteinosis ENZ|interleukin-5 receptor activity ; GO:0004914 |interleukin-3 receptor activity ; GO:0004912 |receptor activity ; GO:0004872 |hematopoietin/interferon-class (D200-domain) cytokine receptor activity ; GO:0004896 CEL|granulocyte macrophage colony-stimulating factor receptor complex ; GO:0030526 HG|species == Mouse; gene == Csf2rb1; score == 898; expect == 0.0; MEOW:MGgn0001700 (56%) |species == Mouse; gene == Csf2rb2; score == 884; expect == 0.0; MEOW:MGgn0001701 (57%) |species == rat; score == 555; expect == 3e-158; MEOW:ref|XP_346802.1| (53%) } # EOR GENR { RETE|ID 1 HUgn0001440 CHR 1 17 DID 1 LocusLink:1440 MAP 1 17q11.2-q12 NAM 1 colony stimulating factor 3 (granulocyte) ORG 1 Homo sapiens SYM 1 CSF3 ID|HUgn0001440 DID|LocusLink:1440 ORG|Homo sapiens RSQ|REFSEQ:NM_000759 |REFSEQ:NM_172219 |REFSEQ:NM_172220 RPA|REFPROT:NP_000750 |REFPROT:NP_757373 |REFPROT:NP_757374 DBA|XM:NM_000759 |XM:NM_172219 |XM:NM_172220 |NA:AF388025 |NA:M13008 |NA:X03656 |NA:BC033245 |NA:M17706 |NA:X03438 |NA:X03655 PAC|XP:NP_000750 |XP:NP_757373 |XP:NP_757374 SYM|CSF3 NAM|colony stimulating factor 3 (granulocyte) SYN|GCSF |G-CSF |MGC45931 FNC|colony stimulating factor 3 isoform a precursor |colony stimulating factor 3 isoform b precursor |colony stimulating factor 3 isoform c |positive regulation of cell proliferation ; GO:0008284 |cell surface receptor linked signal transduction ; GO:0007166 |cellular defense response ; GO:0006968 |development ; GO:0007275 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a cytokine that controls the production, differentiation, |and function of granulocytes. The active protein is found extracellularly. Three |transcript variants encoding three different isoforms have been found for this gene. CHR|17 PRD|filgrastim |lenograstim |pluripoietin |granulocyte colony stimulating factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2233 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1440[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119083 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172220 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172220 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2233 DBL|UNIGENE:Hs.2233 |OMIM:138970 |SNP:1440 MAP|17q11.2-q12 ENZ|granulocyte colony-stimulating factor receptor binding ; GO:0005130 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Csf3; score == 278; expect == 1.3e-75; MEOW:MGgn0001702 (71%) |species == rat; score == 276; expect == 4.3e-75; MEOW:ref|NP_058800.1| (72%) } # EOR GENR { RETE|ID 1 HUgn0001441 CHR 1 1 DID 1 LocusLink:1441 MAP 1 1p35-p34.3 NAM 1 colony stimulating factor 3 receptor (granulocyte) ORG 1 Homo sapiens SYM 1 CSF3R ID|HUgn0001441 DID|LocusLink:1441 ORG|Homo sapiens RSQ|REFSEQ:NM_000760 |REFSEQ:NM_156038 |REFSEQ:NM_156039 |REFSEQ:NM_172313 RPA|REFPROT:NP_000751 |REFPROT:NP_724780 |REFPROT:NP_724781 |REFPROT:NP_758519 DBA|XM:NM_000760 |XM:NM_156038 |XM:NM_156039 |XM:NM_172313 |NA:AY148100 |NA:BC040954 |NA:BC053585 |NA:BI912247 |NA:BU681211 |NA:M59818 |NA:M59819 |NA:M59820 |NA:X55720 |NA:X55721 |NA:none PAC|XP:NP_000751 |XP:NP_724780 |XP:NP_724781 |XP:NP_758519 SYM|CSF3R NAM|colony stimulating factor 3 receptor (granulocyte) SYN|CD114 |GCSFR FNC|colony stimulating factor 3 receptor isoform a precursor |colony stimulating factor 3 receptor isoform b precursor |colony stimulating factor 3 receptor isoform c precursor |colony stimulating factor 3 receptor isoform d precursor |defense response ; GO:0006952 |cell adhesion ; GO:0007155 |signal transduction ; GO:0007165 REAB|The protein encoded by this gene is the receptor for colony stimulating factor 3, |a cytokine that controls the production, differentiation, and function of granulocytes. |The encoded protein, which is a member of the family of cytokine receptors, may |also function in some cell surface adhesion or recognition processes. Four transcript |variants encoding four different isoforms have been found for this gene, with three |of the isoforms being membrane-bound and the other being secreted and soluble. Mutations |in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. CHR|1 PRD|CD114 antigen |granulocyte colony stimulating factor receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381027 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1441[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126430 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_156039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_156039 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=381027 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26942 DBL|UNIGENE:Hs.381027 |OMIM:138971 |SNP:1441 |PROW:1969100062 |UWCM:126430.html MAP|1p35-p34.3 ENZ|receptor activity ; GO:0004872 |cell adhesion molecule activity ; GO:0005194 |hematopoietin/interferon-class (D200-domain) cytokine receptor activity ; GO:0004896 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1069; expect == 0.0; MEOW:ref|XP_233514.1| (63%) |species == Mouse; gene == Csf3r; score == 1042; expect == 0.0; MEOW:MGgn0001703 (62%) |species == Human; gene == IL6ST; score == 235; expect == 8.9e-62; MEOW:HUgn0003572 (27%) } # EOR GENR { RETE|ID 1 HUgn0001442 CHR 1 17 DID 1 LocusLink:1442 MAP 1 17q24.2 NAM 1 chorionic somatomammotropin hormone 1 (placental lactogen) ORG 1 Homo sapiens SYM 1 CSH1 ID|HUgn0001442 DID|LocusLink:1442 ORG|Homo sapiens RSQ|REFSEQ:NM_001317 |REFSEQ:NM_022640 |REFSEQ:NM_022641 |REFSEQ:NM_022642 RPA|REFPROT:NP_001308 |REFPROT:NP_072166 |REFPROT:NP_072167 |REFPROT:NP_072168 DBA|XM:NM_001317 |XM:NM_022640 |XM:NM_022641 |XM:NM_022642 |NA:A12770 |NA:J03071 |NA:K02401 |NA:M90545 |NA:BC002717 |NA:BC005921 |NA:BC020756 |NA:BC057768 |NA:J00118 |NA:M25118 |NA:V00593 PAC|XP:NP_001308 |XP:NP_072166 |XP:NP_072167 |XP:NP_072168 SYM|CSH1 NAM|chorionic somatomammotropin hormone 1 (placental lactogen) SYN|PL |CSA |CSMT FNC|chorionic somatomammotropin hormone 1 isoform 1 |chorionic somatomammotropin hormone 1 isoform 2 |chorionic somatomammotropin hormone 1 isoform 3 |chorionic somatomammotropin hormone 1 isoform 4 |pregnancy ; GO:0007565 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the somatotropin/prolactin family |of hormones and plays an important role in growth control. The gene is located at |the growth hormone locus on chromosome 17 along with four other related genes in |the same transcriptional orientation; an arrangement which is thought to have evolved |by a series of gene duplications. Although the five genes share a remarkably high |degree of sequence identity, they are expressed selectively in different tissues. |Alternative splicing generates additional isoforms of each of the five growth hormones, |leading to further diversity and potential for specialization. This particular family |member is expressed mainly in the placenta and utilizes multiple transcription initiation |sites. Expression of the identical mature proteins for chorionic somatomammotropin |hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 |increases by term. Mutations in this gene result in placental lactogen deficiency |and Silver-Russell syndrome. CHR|17 PRD|CS-1 |hCS-A |choriomammotropin |placental lactogen |chorionic somatomammotropin A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=347963 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119084 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022640 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022640 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=347963 DBL|UNIGENE:Hs.347963 |OMIM:150200 |SNP:1442 |UWCM:119084.html MAP|17q24.2 PHP|Placental lactogen deficiency ENZ|growth hormone receptor binding ; GO:0005131 |peptide hormone ; GO:0005180 CEL|extracellular space ; GO:0005615 HG|species == Human; gene == CSH2; score == 371; expect == 1e-103; MEOW:HUgn0001443 (99%) |species == chimp; score == 365; expect == 1e-101; MEOW:sp|Q866T8|Q866T8 (97%) |species == chimp; score == 359; expect == 2e-101; MEOW:sp|Q866U0|Q866U0 (97%) |species == chimp; score == 347; expect == 3.6e-96; MEOW:sp|P58756|SOMA_PANTR (85%) |species == chimp; score == 346; expect == 1.0e-97; MEOW:sp|Q866U1|Q866U1 (94%) |species == Human; gene == GH1; score == 344; expect == 3.1e-95; MEOW:HUgn0002688 (85%) |species == chimp; score == 324; expect == 1.4e-89; MEOW:sp|Q866T9|Q866T9 (96%) |species == chimp; score == 319; expect == 6.2e-88; MEOW:sp|P58757|SOM2_PANTR (80%) |species == Mouse; gene == Gh; score == 234; expect == 3.4e-62; MEOW:MGgn0004729 (59%) } # EOR GENR { RETE|ID 1 HUgn0001443 CHR 1 17 DID 1 LocusLink:1443 MAP 1 17q24.2 NAM 1 chorionic somatomammotropin hormone 2 ORG 1 Homo sapiens SYM 1 CSH2 ID|HUgn0001443 DID|LocusLink:1443 ORG|Homo sapiens RSQ|REFSEQ:NM_020991 |REFSEQ:NM_022644 |REFSEQ:NM_022645 |REFSEQ:NM_022646 RPA|REFPROT:NP_066271 |REFPROT:NP_072170 |REFPROT:NP_072171 |REFPROT:NP_072172 DBA|XM:NM_020991 |XM:NM_022644 |XM:NM_022645 |XM:NM_022646 |NA:J00289 |NA:J03071 |NA:M15894 |NA:BC022044 |NA:BC035965 |NA:V00573 PAC|XP:NP_066271 |XP:NP_072170 |XP:NP_072171 |XP:NP_072172 SYM|CSH2 NAM|chorionic somatomammotropin hormone 2 SYN|CSB FNC|chorionic somatomammotropin hormone 2 isoform 1 |chorionic somatomammotropin hormone 2 isoform 2 |chorionic somatomammotropin hormone 2 isoform 3 |chorionic somatomammotropin hormone 2 isoform 4 |pregnancy ; GO:0007565 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the somatotropin/prolactin family |of hormones and plays an important role in growth control. The gene is located at |the growth hormone locus on chromosome 17 along with four other related genes in |the same transcriptional orientation; an arrangement which is thought to have evolved |by a series of gene duplications. Although the five genes share a remarkably high |degree of sequence identity, they are expressed selectively in different tissues. |Alternative splicing generates additional isoforms of each of the five growth hormones. |This particular family member is expressed mainly in the placenta and utilizes multiple |transcription initiation sites. Expression of the identical mature proteins for |chorionic somatomammotropin hormones 1 and 2 is upregulated during development, |while the ratio of 1 to 2 increases by term. Structural and expression differences |provide avenues for developmental regulation and tissue specificity. CHR|17 PRD|CS-2 |hCS-B |placental lactogen |chorionic somatomammotropin B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=500457 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119813 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022644 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022644 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=500457 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26944 DBL|UNIGENE:Hs.500457 |OMIM:118820 |SNP:1443 MAP|17q24.2 ENZ|growth hormone receptor binding ; GO:0005131 CEL|extracellular space ; GO:0005615 HG|species == Human; gene == CSH1; score == 371; expect == 1e-103; MEOW:HUgn0001442 (99%) |species == chimp; score == 362; expect == 2e-102; MEOW:sp|Q866T8|Q866T8 (97%) |species == chimp; score == 361; expect == 2e-100; MEOW:sp|Q866U0|Q866U0 (97%) |species == chimp; score == 348; expect == 1.2e-96; MEOW:sp|Q866U1|Q866U1 (94%) |species == Human; gene == GH1; score == 344; expect == 2.4e-95; MEOW:HUgn0002688 (85%) |species == chimp; score == 344; expect == 3.1e-95; MEOW:sp|P58756|SOMA_PANTR (85%) |species == chimp; score == 321; expect == 1.6e-88; MEOW:sp|P58757|SOM2_PANTR (81%) |species == chimp; score == 321; expect == 1.2e-88; MEOW:sp|Q866T9|Q866T9 (95%) |species == Mouse; gene == Gh; score == 234; expect == 2.6e-62; MEOW:MGgn0004729 (60%) } # EOR GENR { RETE|ID 1 HUgn0001444 CHR 1 17 DID 1 LocusLink:1444 MAP 1 17q24.2 NAM 1 chorionic somatomammotropin hormone-like 1 ORG 1 Homo sapiens SYM 1 CSHL1 ID|HUgn0001444 DID|LocusLink:1444 ORG|Homo sapiens RSQ|REFSEQ:NM_001318 |REFSEQ:NM_022579 |REFSEQ:NM_022580 |REFSEQ:NM_022581 RPA|REFPROT:NP_001309 |REFPROT:NP_072101 |REFPROT:NP_072102 |REFPROT:NP_072103 DBA|XM:NM_001318 |XM:NM_022579 |XM:NM_022580 |XM:NM_022581 |NA:J03071 |NA:M15895 |NA:BC029365 PAC|XP:NP_001309 |XP:NP_072101 |XP:NP_072102 |XP:NP_072103 SYM|CSHL1 NAM|chorionic somatomammotropin hormone-like 1 SYN|CSL |CS-5 |CSHP1 |hCS-L FNC|chorionic somatomammotropin hormone-like 1 isoform 1 precursor |chorionic somatomammotropin hormone-like 1 isoform 2 precursor |chorionic somatomammotropin hormone-like 1 isoform 3 |chorionic somatomammotropin hormone-like 1 isoform 4 |biological_process unknown ; GO:0000004 REAB|The protein encoded by this gene is a member of the somatotropin/prolactin family |of hormones which play an important role in growth control. The gene, along with |four other related genes, is located at the growth hormone locus on chromosome 17 |where they are interspersed in the same transcriptional orientation; an arrangement |which is thought to have evolved by a series of gene duplications. Although the |five genes share a remarkably high degree of sequence identity, they are expressed |selectively in different tissues. This particular family member is expressed in |placental villi, although it was originally thought to be a pseudogene. In fact, |alternative splicing suggests that the majority of the transcripts would be unable |to express a secreted protein. Alternatively spliced transcript variants encoding |different isoforms have been identified. CHR|17 PRD|chorionic somatomammotropin CS-5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447490 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119085 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022579 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022579 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=447490 DBL|UNIGENE:Hs.447490 |OMIM:603515 |SNP:1444 MAP|17q24.2 ENZ|hormone activity ; GO:0005179 CEL|extracellular ; GO:0005576 |cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0001445 CHR 1 15 DID 1 LocusLink:1445 MAP 1 15q23-q25 NAM 1 c-src tyrosine kinase ORG 1 Homo sapiens SYM 1 CSK ID|HUgn0001445 DID|LocusLink:1445 ORG|Homo sapiens RSQ|REFSEQ:NM_004383 RPA|REFPROT:NP_004374 DBA|XM:NM_004383 |NA:AK127672 |NA:AY007162 |NA:X59932 |NA:X60114 |NA:none PAC|XP:NP_004374 SYM|CSK NAM|c-src tyrosine kinase FNC|c-src tyrosine kinase |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 |regulation of cell cycle ; GO:0000074 CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77793 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1445[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131642 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004383 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004383 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.77793 |OMIM:124095 |SNP:1445 ENZ|EC:2.7.1.112 |protein C-terminus binding ; GO:0008022 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|15q23-q25 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Csk; score == 914; expect == 0.0; MEOW:MGgn0001705 (99%) |species == rat; score == 911; expect == 0.0; MEOW:ref|XP_236290.2| (98%) |species == Human; gene == MATK; score == 483; expect == 1e-136; MEOW:HUgn0004145 (54%) |species == Fruitfly; gene == Csk; score == 459; expect == 2e-129; MEOW:FBgn0037925 (62%) |species == Mosquito; gene == LOC14190; score == 450; expect == 4e-127; MEOW:AGgn0014190 (59%) |species == Worm; gene == abl-1; score == 323; expect == 8.3e-89; MEOW:CEgn0000002 (40%) |species == Worm; gene == src-2; score == 281; expect == 3.6e-76; MEOW:CEgn0026958 (38%) |species == Zfish; gene == itk; score == 252; expect == 1.3e-68; MEOW:ZFgn0000238 (35%) |species == Weed; gene == At4g38470; score == 175; expect == 4.1e-44; MEOW:ATgn0020261 (36%) |species == Weed; gene == At4g35780; score == 173; expect == 2.0e-43; MEOW:ATgn0017130 (35%) |species == Weed; gene == At2g17700; score == 169; expect == 2.9e-42; MEOW:ATgn0028393 (36%) |species == rice; score == 169; expect == 8.3e-42; MEOW:gnl|TIGR|8357.m03093 (35%) |species == rice; score == 151; expect == 2.3e-36; MEOW:gnl|TIGR|8356.m01204 (31%) |species == rice; score == 150; expect == 1.7e-36; MEOW:gnl|TIGR|8352.m05524 (30%) |species == Weed; gene == At2g24360; score == 149; expect == 2.4e-36; MEOW:ATgn0008622 (29%) |species == Weed; gene == At4g31170; score == 149; expect == 3.1e-36; MEOW:ATgn0018674 (30%) |species == Weed; gene == At1g73660; score == 148; expect == 5.3e-36; MEOW:ATgn0006971 (34%) |species == rice; score == 147; expect == 3.4e-35; MEOW:gnl|TIGR|8352.m04814 (30%) |species == Weed; gene == At1g18160; score == 146; expect == 2.6e-35; MEOW:ATgn0006749 (34%) |species == rice; score == 145; expect == 9.9e-35; MEOW:gnl|TIGR|8355.m02702 (33%) |species == Weed; gene == At3g46930; score == 142; expect == 3.8e-34; MEOW:ATgn0013558 (31%) |species == Weed; gene == At4g23050; score == 142; expect == 3.8e-34; MEOW:ATgn0017830 (35%) |species == chimp; score == 142; expect == 9.2e-36; MEOW:sp|BAC78172|BAC78172 (30%) |species == Weed; gene == At3g06640; score == 141; expect == 6.5e-34; MEOW:ATgn0016813 (33%) |species == rice; score == 141; expect == 2.4e-33; MEOW:gnl|TIGR|8351.m00694 (30%) |species == rice; score == 141; expect == 1.9e-33; MEOW:gnl|TIGR|8351.m04858 (33%) |species == rice; score == 141; expect == 2.4e-33; MEOW:gnl|TIGR|8359.m00564 (30%) |species == rice; score == 139; expect == 7.1e-33; MEOW:gnl|TIGR|8353.m04475 (32%) |species == rice; score == 137; expect == 2.7e-32; MEOW:gnl|TIGR|8359.m03563 (32%) } # EOR GENR { RETE|ID 1 HUgn0001446 CHR 1 4 DID 1 LocusLink:1446 MAP 1 4q21.1 NAM 1 casein alpha s1 ORG 1 Homo sapiens SYM 1 CSN1S1 ID|HUgn0001446 DID|LocusLink:1446 ORG|Homo sapiens RSQ|REFSEQ:NM_001890 RPA|REFPROT:NP_001881 DBA|XM:NM_001890 |NA:U23157 |NA:X78416 |NA:X98084 |NA:none PAC|XP:NP_001881 SYM|CSN1S1 NAM|casein alpha s1 SYN|CASA |CSN1 FNC|casein alpha s1 |digestion ; GO:0007586 CHR|4 PRD|casein, alpha URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3155 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1446[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125233 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001890 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001890 DBL|UNIGENE:Hs.3155 |OMIM:115450 |SNP:1446 MAP|4q21.1 } # EOR GENR { RETE|ID 1 HUgn0001447 CHR 1 4 DID 1 LocusLink:1447 MAP 1 4q21.1 NAM 1 casein beta ORG 1 Homo sapiens SYM 1 CSN2 ID|HUgn0001447 DID|LocusLink:1447 ORG|Homo sapiens RSQ|REFSEQ:NM_001891 RPA|REFPROT:NP_001882 DBA|XM:NM_001891 |NA:AF027807 |NA:X13766 |NA:X17070 |NA:X55739 |NA:none PAC|XP:NP_001882 SYM|CSN2 NAM|casein beta SYN|CASB FNC|casein beta |calcium ion transport ; GO:0006816 CHR|4 PRD|casein, beta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2242 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1447[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125234 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001891 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001891 DBL|UNIGENE:Hs.2242 |OMIM:115460 |SNP:1447 MAP|4q21.1 ENZ|enzyme inhibitor activity ; GO:0004857 |calcium ion binding ; GO:0005509 } # EOR GENR { RETE|ID 1 HUgn0001448 CHR 1 4 DID 1 LocusLink:1448 MAP 1 4q21.1 NAM 1 casein kappa ORG 1 Homo sapiens SYM 1 CSN3 ID|HUgn0001448 DID|LocusLink:1448 ORG|Homo sapiens RSQ|REFSEQ:NM_005212 RPA|REFPROT:NP_005203 DBA|XM:NM_005212 |NA:U51899 |NA:BC010935 |NA:M73628 |NA:X66417 |NA:none PAC|XP:NP_005203 SYM|CSN3 NAM|casein kappa SYN|CSN10 FNC|casein kappa |physiological processes ; GO:0007582 CHR|4 PRD|casein, kappa URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54415 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1448[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5916337 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005212 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005212 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=54415 DBL|UNIGENE:Hs.54415 |OMIM:601695 |SNP:1448 MAP|4q21.1 ENZ|molecular_function unknown ; GO:0005554 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001452 CHR 1 5 DID 1 LocusLink:1452 MAP 1 5q32 NAM 1 casein kinase 1, alpha 1 ORG 1 Homo sapiens SYM 1 CSNK1A1 ID|HUgn0001452 DID|LocusLink:1452 ORG|Homo sapiens RSQ|REFSEQ:NM_001892 RPA|REFPROT:NP_001883 DBA|XM:NM_001892 |NA:AF447582 |NA:BC007246 |NA:BC008717 |NA:BC021971 |NA:BC025371 |NA:BC040473 |NA:L37042 |NA:X80693 PAC|XP:NP_001883 SYM|CSNK1A1 NAM|casein kinase 1, alpha 1 SYN|CK1 |HLCDGP1 |PRO2975 FNC|casein kinase 1, alpha 1 |protein amino acid phosphorylation ; GO:0006468 |cell surface receptor linked signal transduction ; GO:0007166 |signal transduction ; GO:0007165 CHR|5 PRD|down-regulated in lung cancer URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=318381 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=519667 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1452[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386526 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001892 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001892 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=318381 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=519667 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.318381 |UNIGENE:Hs.519667 |OMIM:600505 |SNP:1452 ENZ|EC:2.7.1.- |casein kinase I activity ; GO:0004681 MAP|5q32 PHP|Casein kinase 1 alpha; serine/threonine protein kinase, has broad specificity HG|species == Mouse; gene == Csnk1a1; score == 594; expect == 3e-170; MEOW:MGgn0028493 (99%) |species == Zfish; gene == csnk1a1; score == 594; expect == 3e-170; MEOW:ZFgn0002580 (99%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_446067.1| (99%) |species == Human; gene == MGC33182; score == 555; expect == 2e-158; MEOW:HUgn0122011 (91%) |species == Fruitfly; gene == CkI&agr;; score == 520; expect == 6e-148; MEOW:FBgn0015024 (76%) |species == Mosquito; gene == LOC22452; score == 480; expect == 5e-136; MEOW:AGgn0022452 (84%) |species == Human; gene == CSNK1E; score == 474; expect == 4e-134; MEOW:HUgn0001454 (75%) |species == rat; score == 474; expect == 4e-134; MEOW:ref|NP_113805.1| (75%) |species == Human; gene == CSNK1D; score == 471; expect == 3e-133; MEOW:HUgn0001453 (75%) |species == rice; score == 462; expect == 5e-130; MEOW:gnl|TIGR|8351.m05431 (65%) |species == Weed; gene == At4g26100; score == 455; expect == 2e-128; MEOW:ATgn0020908 (66%) |species == Weed; gene == At5g57015; score == 455; expect == 2e-128; MEOW:ATgn0030720 (69%) |species == Weed; gene == At1g03930; score == 451; expect == 5e-127; MEOW:ATgn0005347 (68%) |species == Weed; gene == At4g28540; score == 449; expect == 2e-126; MEOW:ATgn0019366 (60%) |species == Weed; gene == At4g14340; score == 444; expect == 5e-125; MEOW:ATgn0018848 (68%) |species == Weed; gene == At1g04440; score == 443; expect == 1e-124; MEOW:ATgn0005485 (69%) |species == Fruitfly; gene == dco; score == 442; expect == 2e-124; MEOW:FBgn0002413 (70%) |species == rice; score == 441; expect == 5e-124; MEOW:gnl|TIGR|8350.m04741 (68%) |species == rice; score == 440; expect == 4e-124; MEOW:gnl|TIGR|8362.m02594 (68%) |species == Weed; gene == At2g19470; score == 433; expect == 8e-122; MEOW:ATgn0009138 (66%) |species == Weed; gene == At5g43320; score == 432; expect == 2e-121; MEOW:ATgn0022954 (71%) |species == Weed; gene == At3g23340; score == 431; expect == 4e-121; MEOW:ATgn0015490 (63%) |species == Weed; gene == At4g28880; score == 431; expect == 3e-121; MEOW:ATgn0020043 (62%) |species == rice; score == 431; expect == 4e-121; MEOW:gnl|TIGR|8352.m04002 (71%) |species == Weed; gene == At4g28860; score == 428; expect == 3e-120; MEOW:ATgn0020041 (65%) |species == rice; score == 427; expect == 6e-120; MEOW:gnl|TIGR|8350.m01211 (63%) |species == Weed; gene == At1g72710; score == 424; expect == 4e-119; MEOW:ATgn0005073 (70%) |species == Worm; gene == kin-20; score == 424; expect == 2e-119; MEOW:CEgn0031042 (68%) |species == Weed; gene == At5g44100; score == 419; expect == 2e-117; MEOW:ATgn0023796 (68%) |species == rice; score == 411; expect == 5e-115; MEOW:gnl|TIGR|8351.m01626 (68%) |species == rice; score == 410; expect == 1e-114; MEOW:gnl|TIGR|8351.m03872 (66%) |species == Yeast; gene == HRR25; score == 408; expect == 3e-114; MEOW:SGgn0006125 (64%) } # EOR GENR { RETE|ID 1 HUgn0001453 CHR 1 17 DID 1 LocusLink:1453 MAP 1 17q25 NAM 1 casein kinase 1, delta ORG 1 Homo sapiens SYM 1 CSNK1D ID|HUgn0001453 DID|LocusLink:1453 ORG|Homo sapiens RSQ|REFSEQ:NM_001893 |REFSEQ:NM_139062 RPA|REFPROT:NP_001884 |REFPROT:NP_620693 DBA|XM:NM_001893 |XM:NM_139062 |NA:U31285 |NA:AB091044 |NA:AK128863 |NA:BC003558 |NA:BC015775 |NA:U29171 PAC|XP:NP_001884 |XP:NP_620693 SYM|CSNK1D NAM|casein kinase 1, delta SYN|HCKID FNC|casein kinase 1, delta isoform 1 |casein kinase 1, delta isoform 2 |protein amino acid phosphorylation ; GO:0006468 |DNA repair ; GO:0006281 |signal transduction ; GO:0007165 REAB|This gene is a member of the casein kinase I (CKI) gene family whose members have |been implicated in the control of cytoplasmic and nuclear processes, including DNA |replication and repair. The encoded protein is highly similar to the mouse and rat |CK1 delta homologs. Two transcript variants encoding different isoforms have been |found for this gene. CHR|17 DBL|OMIM:600864 |SNP:1453 ENZ|EC:2.7.1.- |casein kinase I activity ; GO:0004681 MAP|17q25 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1453[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:604582 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_139062 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_139062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 HG|species == rat; score == 776; expect == 0.0; MEOW:ref|NP_620691.1| (97%) |species == Mouse; gene == Csnk1d; score == 775; expect == 0.0; MEOW:MGgn0013809 (99%) |species == Mouse; gene == Csnk1e; score == 677; expect == 0.0; MEOW:MGgn0013348 (84%) |species == rat; score == 675; expect == 0.0; MEOW:ref|NP_113805.1| (83%) |species == Human; gene == CSNK1E; score == 674; expect == 0.0; MEOW:HUgn0001454 (83%) |species == Fruitfly; gene == dco; score == 544; expect == 4e-155; MEOW:FBgn0002413 (85%) |species == Worm; gene == kin-20; score == 504; expect == 3e-143; MEOW:CEgn0031042 (80%) |species == rice; score == 503; expect == 2e-142; MEOW:gnl|TIGR|8350.m04741 (70%) |species == Weed; gene == At4g26100; score == 498; expect == 3e-141; MEOW:ATgn0020908 (61%) |species == Weed; gene == At5g57015; score == 496; expect == 1e-140; MEOW:ATgn0030720 (63%) |species == Weed; gene == At1g72710; score == 488; expect == 3e-138; MEOW:ATgn0005073 (76%) |species == Weed; gene == At1g03930; score == 486; expect == 1e-137; MEOW:ATgn0005347 (61%) |species == rice; score == 484; expect == 1e-136; MEOW:gnl|TIGR|8351.m05431 (73%) |species == Weed; gene == At3g23340; score == 483; expect == 1e-136; MEOW:ATgn0015490 (72%) |species == Weed; gene == At5g44100; score == 483; expect == 1e-136; MEOW:ATgn0023796 (73%) |species == Weed; gene == At2g19470; score == 481; expect == 4e-136; MEOW:ATgn0009138 (71%) |species == rice; score == 478; expect == 4e-135; MEOW:gnl|TIGR|8352.m04002 (58%) |species == Weed; gene == At4g28540; score == 477; expect == 7e-135; MEOW:ATgn0019366 (65%) |species == Zfish; gene == csnk1a1; score == 473; expect == 6e-135; MEOW:ZFgn0002580 (76%) |species == rice; score == 468; expect == 1e-132; MEOW:gnl|TIGR|8362.m02594 (73%) |species == Weed; gene == At5g43320; score == 463; expect == 1e-130; MEOW:ATgn0022954 (69%) |species == Weed; gene == At4g14340; score == 460; expect == 7e-130; MEOW:ATgn0018848 (70%) |species == Weed; gene == At1g04440; score == 459; expect == 2e-129; MEOW:ATgn0005485 (69%) |species == rice; score == 448; expect == 6e-126; MEOW:gnl|TIGR|8351.m01626 (60%) |species == Weed; gene == At4g28860; score == 440; expect == 6e-124; MEOW:ATgn0020041 (59%) |species == Weed; gene == At4g28880; score == 440; expect == 8e-124; MEOW:ATgn0020043 (58%) |species == rice; score == 440; expect == 9e-124; MEOW:gnl|TIGR|8350.m01211 (54%) |species == Yeast; gene == HRR25; score == 433; expect == 2e-122; MEOW:SGgn0006125 (65%) |species == rice; score == 426; expect == 2e-119; MEOW:gnl|TIGR|8351.m03872 (54%) |species == Mosquito; gene == LOC22452; score == 424; expect == 3e-119; MEOW:AGgn0022452 (73%) |species == Mosquito; score == 346; expect == 1.4e-95; MEOW:AGgn0014376 (56%) |species == Mosquito; gene == LOC24862; score == 340; expect == 1.0e-93; MEOW:AGgn0024862 (55%) } # EOR GENR { RETE|ID 1 HUgn0001454 CHR 1 22 DID 1 LocusLink:1454 MAP 1 22q13.1 NAM 1 casein kinase 1, epsilon ORG 1 Homo sapiens SYM 1 CSNK1E ID|HUgn0001454 DID|LocusLink:1454 ORG|Homo sapiens RSQ|REFSEQ:NM_001894 |REFSEQ:NM_152221 RPA|REFPROT:NP_001885 |REFPROT:NP_689407 DBA|XM:NM_001894 |XM:NM_152221 |NA:AB024597 |NA:AB091043 |NA:AK092269 |NA:BC006490 |NA:BC013088 |NA:BQ434269 |NA:L37043 |NA:none PAC|XP:NP_001885 |XP:NP_689407 SYM|CSNK1E NAM|casein kinase 1, epsilon SYN|HCKIE |MGC10398 FNC|casein kinase 1 epsilon |protein amino acid phosphorylation ; GO:0006468 |DNA repair ; GO:0006281 |signal transduction ; GO:0007165 REAB|The protein encoded by this gene is a serine/threonine protein kinase and member |of the casein kinase I protein family, whose members have been implicated in the |control of cytoplasmic and nuclear processes, including DNA replication and repair. |The encoded protein is found in the cytoplasm as a monomer and can phosphorylate |a variety of proteins, including itself. This protein has been shown to phosphorylate |period, a circadian rhythm protein. Two transcript variants encoding the same protein |have been found for this gene. CHR|22 PRD|CKI-epsilon |casein kinase I epsilon URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355669 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1454[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:604574 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152221 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152221 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355669 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.355669 |OMIM:600863 |SNP:1454 MAP|22q13.1 ENZ|casein kinase I activity ; GO:0004681 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 HG|species == rat; score == 783; expect == 0.0; MEOW:ref|NP_113805.1| (99%) |species == Mouse; gene == Csnk1e; score == 781; expect == 0.0; MEOW:MGgn0013348 (98%) |species == Mouse; gene == Csnk1d; score == 689; expect == 0.0; MEOW:MGgn0013809 (83%) |species == rat; score == 676; expect == 0.0; MEOW:ref|NP_620691.1| (84%) |species == Human; gene == CSNK1D; score == 674; expect == 0.0; MEOW:HUgn0001453 (83%) |species == Fruitfly; gene == dco; score == 552; expect == 1e-157; MEOW:FBgn0002413 (85%) |species == Worm; gene == kin-20; score == 502; expect == 8e-143; MEOW:CEgn0031042 (79%) |species == rice; score == 500; expect == 1e-141; MEOW:gnl|TIGR|8350.m04741 (78%) |species == Weed; gene == At4g26100; score == 497; expect == 6e-141; MEOW:ATgn0020908 (77%) |species == Weed; gene == At5g57015; score == 494; expect == 4e-140; MEOW:ATgn0030720 (77%) |species == Weed; gene == At1g03930; score == 491; expect == 2e-139; MEOW:ATgn0005347 (60%) |species == Weed; gene == At1g72710; score == 489; expect == 2e-138; MEOW:ATgn0005073 (76%) |species == rice; score == 488; expect == 6e-138; MEOW:gnl|TIGR|8351.m05431 (74%) |species == Weed; gene == At3g23340; score == 486; expect == 1e-137; MEOW:ATgn0015490 (74%) |species == Weed; gene == At5g44100; score == 486; expect == 1e-137; MEOW:ATgn0023796 (74%) |species == rice; score == 483; expect == 2e-136; MEOW:gnl|TIGR|8352.m04002 (72%) |species == Zfish; gene == csnk1a1; score == 476; expect == 7e-136; MEOW:ZFgn0002580 (75%) |species == Weed; gene == At2g19470; score == 475; expect == 2e-134; MEOW:ATgn0009138 (71%) |species == Weed; gene == At4g28540; score == 475; expect == 3e-134; MEOW:ATgn0019366 (68%) |species == rice; score == 473; expect == 2e-133; MEOW:gnl|TIGR|8362.m02594 (74%) |species == Weed; gene == At5g43320; score == 467; expect == 5e-132; MEOW:ATgn0022954 (70%) |species == Weed; gene == At4g14340; score == 464; expect == 5e-131; MEOW:ATgn0018848 (71%) |species == Weed; gene == At1g04440; score == 463; expect == 8e-131; MEOW:ATgn0005485 (70%) |species == rice; score == 445; expect == 5e-125; MEOW:gnl|TIGR|8351.m01626 (69%) |species == Weed; gene == At4g28880; score == 439; expect == 1e-123; MEOW:ATgn0020043 (55%) |species == Weed; gene == At4g28860; score == 436; expect == 1e-122; MEOW:ATgn0020041 (56%) |species == rice; score == 436; expect == 1e-122; MEOW:gnl|TIGR|8350.m01211 (67%) |species == Yeast; gene == HRR25; score == 434; expect == 2e-122; MEOW:SGgn0006125 (65%) |species == rice; score == 426; expect == 2e-119; MEOW:gnl|TIGR|8351.m03872 (74%) |species == Mosquito; gene == LOC22452; score == 425; expect == 1e-119; MEOW:AGgn0022452 (73%) |species == Mosquito; score == 350; expect == 3.6e-97; MEOW:AGgn0014376 (57%) |species == Mosquito; gene == LOC24862; score == 344; expect == 3.3e-95; MEOW:AGgn0024862 (56%) } # EOR GENR { RETE|ID 1 HUgn0001455 CHR 1 19 DID 1 LocusLink:1455 MAP 1 19p13.3 NAM 1 casein kinase 1, gamma 2 ORG 1 Homo sapiens SYM 1 CSNK1G2 ID|HUgn0001455 DID|LocusLink:1455 ORG|Homo sapiens RSQ|REFSEQ:NM_001319 RPA|REFPROT:NP_001310 DBA|XM:NM_001319 |NA:AC005306 |NA:AF001177 |NA:AY007134 |NA:BC018693 |NA:BC018699 |NA:BC020972 |NA:BT009922 |NA:U89896 PAC|XP:NP_001310 SYM|CSNK1G2 NAM|casein kinase 1, gamma 2 FNC|casein kinase 1, gamma 2 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181390 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1455[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278645 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001319 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001319 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=181390 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.181390 |OMIM:602214 |SNP:1455 MAP|19p13.3 PHP|Casein kinase 1 gamma 2; serine/threonine protein kinase with broad specificity; contains an SH3 domain-binding motif ENZ|casein kinase I activity ; GO:0004681 HG|species == rat; score == 726; expect == 0.0; MEOW:ref|NP_075590.1| (93%) |species == Mouse; gene == AI463719; score == 721; expect == 0.0; MEOW:MGgn0031947 (89%) |species == Human; gene == CSNK1G3; score == 643; expect == 0.0; MEOW:HUgn0001456 (79%) |species == rat; score == 642; expect == 0.0; MEOW:ref|NP_074046.1| (78%) |species == Mouse; gene == Csnk1g1; score == 626; expect == 7e-180; MEOW:MGgn0043231 (74%) |species == rat; score == 602; expect == 9e-173; MEOW:ref|NP_071624.1| (85%) |species == Human; gene == CSNK1G1; score == 593; expect == 5e-170; MEOW:HUgn0053944 (79%) |species == Mosquito; score == 519; expect == 1e-147; MEOW:AGgn0014376 (78%) |species == Worm; gene == Y106G6E.6; score == 519; expect == 1e-147; MEOW:CEgn0020231 (67%) |species == Mosquito; gene == LOC24862; score == 501; expect == 3e-142; MEOW:AGgn0024862 (75%) |species == Fruitfly; gene == gish; score == 494; expect == 3e-140; MEOW:FBgn0011253 (78%) |species == Weed; gene == At3g23340; score == 365; expect == 2e-101; MEOW:ATgn0015490 (55%) |species == Weed; gene == At1g04440; score == 363; expect == 1e-100; MEOW:ATgn0005485 (53%) |species == rice; score == 362; expect == 5e-100; MEOW:gnl|TIGR|8351.m05431 (51%) |species == rice; score == 361; expect == 1.0e-99; MEOW:gnl|TIGR|8350.m04741 (59%) |species == Weed; gene == At1g03930; score == 360; expect == 6e-100; MEOW:ATgn0005347 (58%) |species == Weed; gene == At5g43320; score == 359; expect == 2.3e-99; MEOW:ATgn0022954 (57%) |species == Weed; gene == At5g44100; score == 359; expect == 1.4e-99; MEOW:ATgn0023796 (57%) |species == rice; score == 359; expect == 3.9e-99; MEOW:gnl|TIGR|8352.m04002 (52%) |species == Weed; gene == At4g28540; score == 358; expect == 3.1e-99; MEOW:ATgn0019366 (55%) |species == Weed; gene == At4g14340; score == 355; expect == 2.0e-98; MEOW:ATgn0018848 (55%) |species == rice; score == 355; expect == 2.3e-98; MEOW:gnl|TIGR|8362.m02594 (54%) |species == Weed; gene == At4g26100; score == 351; expect == 3.7e-97; MEOW:ATgn0020908 (57%) |species == Weed; gene == At5g57015; score == 351; expect == 4.9e-97; MEOW:ATgn0030720 (57%) |species == Weed; gene == At1g72710; score == 347; expect == 7.1e-96; MEOW:ATgn0005073 (58%) |species == Weed; gene == At2g19470; score == 346; expect == 1.3e-95; MEOW:ATgn0009138 (51%) |species == Yeast; gene == YCK2; score == 345; expect == 3.7e-95; MEOW:SGgn0005098 (57%) |species == Yeast; gene == YCK1; score == 344; expect == 1.1e-94; MEOW:SGgn0001177 (57%) |species == Weed; gene == At4g28860; score == 332; expect == 3.0e-91; MEOW:ATgn0020041 (53%) |species == Weed; gene == At4g28880; score == 331; expect == 5.2e-91; MEOW:ATgn0020043 (53%) |species == Zfish; gene == csnk1a1; score == 327; expect == 5.1e-91; MEOW:ZFgn0002580 (55%) |species == rice; score == 327; expect == 1.3e-89; MEOW:gnl|TIGR|8350.m01211 (53%) |species == rice; score == 327; expect == 2.2e-89; MEOW:gnl|TIGR|8351.m01626 (53%) |species == Yeast; gene == HRR25; score == 326; expect == 3.6e-90; MEOW:SGgn0006125 (48%) |species == rice; score == 325; expect == 5.6e-89; MEOW:gnl|TIGR|8351.m03872 (56%) |species == Yeast; gene == YCK3; score == 300; expect == 1.0e-81; MEOW:SGgn0000925 (49%) } # EOR GENR { RETE|ID 1 HUgn0001456 CHR 1 5 DID 1 LocusLink:1456 MAP 1 5q23 NAM 1 casein kinase 1, gamma 3 ORG 1 Homo sapiens SYM 1 CSNK1G3 ID|HUgn0001456 DID|LocusLink:1456 ORG|Homo sapiens RSQ|REFSEQ:NM_004384 RPA|REFPROT:NP_004375 DBA|XM:NM_004384 |NA:AF049089 |NA:AF049090 |NA:BC047567 |NA:none PAC|XP:NP_004375 SYM|CSNK1G3 NAM|casein kinase 1, gamma 3 FNC|casein kinase 1, gamma 3 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129206 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1456[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864261 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004384 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004384 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=129206 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.129206 |OMIM:604253 |SNP:1456 MAP|5q23 HG|species == rat; score == 820; expect == 0.0; MEOW:ref|NP_074046.1| (98%) |species == Mouse; gene == Csnk1g1; score == 680; expect == 0.0; MEOW:MGgn0043231 (78%) |species == Human; gene == CSNK1G2; score == 643; expect == 0.0; MEOW:HUgn0001455 (79%) |species == Mouse; gene == AI463719; score == 630; expect == 0.0; MEOW:MGgn0031947 (74%) |species == Human; gene == CSNK1G1; score == 609; expect == 1e-174; MEOW:HUgn0053944 (86%) |species == Mouse; gene == 3300002K07Rik; score == 583; expect == 4e-167; MEOW:MGgn0022715 (86%) |species == Mosquito; score == 537; expect == 2e-153; MEOW:AGgn0014376 (75%) |species == Mosquito; gene == LOC24862; score == 519; expect == 6e-148; MEOW:AGgn0024862 (73%) |species == Worm; gene == Y106G6E.6; score == 510; expect == 5e-145; MEOW:CEgn0020231 (65%) |species == Fruitfly; gene == gish; score == 505; expect == 1e-143; MEOW:FBgn0011253 (76%) |species == rice; score == 368; expect == 1e-101; MEOW:gnl|TIGR|8351.m05431 (54%) |species == Weed; gene == At1g04440; score == 367; expect == 6e-102; MEOW:ATgn0005485 (59%) |species == Weed; gene == At3g23340; score == 367; expect == 9e-102; MEOW:ATgn0015490 (55%) |species == Weed; gene == At1g03930; score == 362; expect == 3e-100; MEOW:ATgn0005347 (58%) |species == Weed; gene == At4g28540; score == 362; expect == 2e-100; MEOW:ATgn0019366 (56%) |species == Weed; gene == At5g43320; score == 362; expect == 2e-100; MEOW:ATgn0022954 (58%) |species == rice; score == 361; expect == 2e-100; MEOW:gnl|TIGR|8362.m02594 (57%) |species == rice; score == 360; expect == 1.5e-99; MEOW:gnl|TIGR|8350.m04741 (60%) |species == Weed; gene == At5g44100; score == 359; expect == 2.6e-99; MEOW:ATgn0023796 (57%) |species == rice; score == 359; expect == 4.3e-99; MEOW:gnl|TIGR|8352.m04002 (57%) |species == Weed; gene == At4g14340; score == 357; expect == 7.5e-99; MEOW:ATgn0018848 (57%) |species == Weed; gene == At4g26100; score == 350; expect == 9.1e-97; MEOW:ATgn0020908 (57%) |species == Weed; gene == At5g57015; score == 350; expect == 7.0e-97; MEOW:ATgn0030720 (44%) |species == Yeast; gene == YCK2; score == 348; expect == 1.3e-96; MEOW:SGgn0005098 (49%) |species == Weed; gene == At1g72710; score == 345; expect == 2.9e-95; MEOW:ATgn0005073 (58%) |species == Weed; gene == At2g19470; score == 343; expect == 1.4e-94; MEOW:ATgn0009138 (57%) |species == Yeast; gene == YCK1; score == 339; expect == 4.5e-94; MEOW:SGgn0001177 (49%) |species == rice; score == 339; expect == 4.6e-93; MEOW:gnl|TIGR|8351.m01626 (51%) |species == Weed; gene == At4g28860; score == 335; expect == 2.7e-92; MEOW:ATgn0020041 (56%) |species == Weed; gene == At4g28880; score == 334; expect == 4.7e-92; MEOW:ATgn0020043 (56%) |species == Zfish; gene == csnk1a1; score == 332; expect == 1.3e-92; MEOW:ZFgn0002580 (55%) |species == rice; score == 330; expect == 1.3e-90; MEOW:gnl|TIGR|8350.m01211 (55%) |species == rice; score == 329; expect == 3.0e-90; MEOW:gnl|TIGR|8351.m03872 (58%) |species == Yeast; gene == HRR25; score == 325; expect == 3.6e-89; MEOW:SGgn0006125 (54%) |species == Yeast; gene == YCK3; score == 301; expect == 1.4e-82; MEOW:SGgn0000925 (49%) } # EOR GENR { RETE|ID 1 HUgn0001457 CHR 1 20 DID 1 LocusLink:1457 MAP 1 20p13 NAM 1 casein kinase 2, alpha 1 polypeptide ORG 1 Homo sapiens SYM 1 CSNK2A1 ID|HUgn0001457 DID|LocusLink:1457 ORG|Homo sapiens RSQ|REFSEQ:NM_001895 |REFSEQ:NM_177559 |REFSEQ:NM_177560 RPA|REFPROT:NP_001886 |REFPROT:NP_808227 |REFPROT:NP_808228 DBA|XM:NM_001895 |XM:NM_177559 |XM:NM_177560 |NA:AF011920 |NA:X69951 |NA:AU130091 |NA:AU131227 |NA:BC002615 |NA:BC011668 |NA:BC050036 |NA:BC053532 |NA:J02853 |NA:M55265 |NA:none PAC|XP:NP_001886 |XP:NP_808227 |XP:NP_808228 SYM|CSNK2A1 NAM|casein kinase 2, alpha 1 polypeptide SYN|CKII |CK2A1 FNC|casein kinase II alpha 1 subunit isoform a |casein kinase II alpha 1 subunit isoform b |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic |proteins such as casein. The kinase exists as a tetramer and is composed of an alpha, |an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic |activity while the beta subunits undergo autophosphorylation. The protein encoded |by this gene represents the alpha subunit. While this gene is found on chromosome |20, a related transcribed pseudogene is found on chromosome 11. Three transcript |variants encoding two different isoforms have been found for this gene. CHR|20 PRD|CK2 catalytic subunit alpha URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446484 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1457[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129560 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_177559 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_177559 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446484 DBL|UNIGENE:Hs.446484 |OMIM:115440 |SNP:1457 ENZ|EC:2.7.1.37 |protein kinase CK2 activity ; GO:0004682 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|20p13 CEL|plasma membrane ; GO:0005886 |nucleus ; GO:0005634 HG|species == Mouse; gene == Csnk2a1-rs4; score == 749; expect == 0.0; MEOW:MGgn0001716 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_446276.1| (98%) |species == Human; gene == CSNK2A1P; score == 717; expect == 0.0; MEOW:HUgn0283106 (98%) |species == Mouse; gene == Csnk2a1; score == 714; expect == 0.0; MEOW:MGgn0001712 (97%) |species == Mosquito; gene == LOC17774; score == 572; expect == 7e-164; MEOW:AGgn0017774 (88%) |species == Fruitfly; gene == CkII&agr;; score == 570; expect == 3e-163; MEOW:FBgn0000258 (88%) |species == rat; score == 559; expect == 8e-160; MEOW:ref|XP_226237.2| (85%) |species == Zfish; gene == ck2a2; score == 529; expect == 5e-152; MEOW:ZFgn0000246 (82%) |species == Zfish; gene == ck2a1; score == 504; expect == 3e-143; MEOW:ZFgn0000242 (90%) |species == Weed; gene == At2g23070; score == 489; expect == 2e-138; MEOW:ATgn0007385 (75%) |species == Weed; gene == At3g50000; score == 486; expect == 1e-137; MEOW:ATgn0015833 (75%) |species == Weed; gene == At2g23080; score == 485; expect == 2e-137; MEOW:ATgn0007386 (75%) |species == Weed; gene == At5g67380; score == 485; expect == 2e-137; MEOW:ATgn0026488 (73%) |species == rice; score == 476; expect == 3e-134; MEOW:gnl|TIGR|8355.m00137 (67%) |species == rice; score == 455; expect == 2e-128; MEOW:gnl|TIGR|8360.m00938 (73%) |species == rice; score == 449; expect == 3e-126; MEOW:gnl|TIGR|8360.m04953 (69%) |species == Yeast; gene == CKA1; score == 387; expect == 4e-108; MEOW:SGgn0001297 (55%) |species == Yeast; gene == CKA2; score == 381; expect == 3e-106; MEOW:SGgn0005587 (59%) |species == Worm; gene == pmk-1; score == 130; expect == 8.6e-31; MEOW:CEgn0003237 (37%) } # EOR GENR { RETE|ID 1 HUgn0001459 CHR 1 16 DID 1 LocusLink:1459 MAP 1 16p13.3-p13.2 NAM 1 casein kinase 2, alpha prime polypeptide ORG 1 Homo sapiens SYM 1 CSNK2A2 ID|HUgn0001459 DID|LocusLink:1459 ORG|Homo sapiens RSQ|REFSEQ:NM_001896 RPA|REFPROT:NP_001887 DBA|XM:NM_001896 |NA:BC008812 |NA:BC053935 |NA:M55268 |NA:none PAC|XP:NP_001887 SYM|CSNK2A2 NAM|casein kinase 2, alpha prime polypeptide SYN|CK2A2 |CSNK2A1 FNC|casein kinase 2, alpha prime polypeptide |spermatid development ; GO:0007286 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82201 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1459[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129561 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001896 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001896 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82201 DBL|UNIGENE:Hs.82201 |OMIM:115442 |SNP:1459 ENZ|EC:2.7.1.37 |protein kinase CK2 activity ; GO:0004682 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|16p13.3-p13.2 HG|species == Mouse; gene == Csnk2a2; score == 666; expect == 0.0; MEOW:MGgn0001717 (98%) |species == rat; score == 665; expect == 0.0; MEOW:ref|XP_226237.2| (98%) |species == Human; gene == CSNK2A1; score == 558; expect == 2e-159; MEOW:HUgn0001457 (85%) |species == Mouse; gene == Csnk2a1-rs4; score == 558; expect == 2e-159; MEOW:MGgn0001716 (85%) |species == rat; score == 558; expect == 2e-159; MEOW:ref|NP_446276.1| (85%) |species == Human; gene == CSNK2A1P; score == 557; expect == 3e-159; MEOW:HUgn0283106 (85%) |species == Mouse; gene == Csnk2a1; score == 554; expect == 4e-158; MEOW:MGgn0001712 (84%) |species == Zfish; gene == ck2a2; score == 552; expect == 1e-157; MEOW:ZFgn0000246 (83%) |species == Fruitfly; gene == CkII&agr;; score == 528; expect == 2e-150; MEOW:FBgn0000258 (81%) |species == Mosquito; gene == LOC17774; score == 526; expect == 6e-150; MEOW:AGgn0017774 (81%) |species == Weed; gene == At2g23070; score == 470; expect == 8e-133; MEOW:ATgn0007385 (71%) |species == Weed; gene == At3g50000; score == 466; expect == 8e-132; MEOW:ATgn0015833 (71%) |species == Weed; gene == At5g67380; score == 465; expect == 2e-131; MEOW:ATgn0026488 (71%) |species == Weed; gene == At2g23080; score == 463; expect == 5e-131; MEOW:ATgn0007386 (71%) |species == Zfish; gene == ck2a1; score == 457; expect == 3e-129; MEOW:ZFgn0000242 (84%) |species == rice; score == 454; expect == 4e-128; MEOW:gnl|TIGR|8355.m00137 (73%) |species == rice; score == 438; expect == 5e-123; MEOW:gnl|TIGR|8360.m04953 (69%) |species == rice; score == 433; expect == 5e-122; MEOW:gnl|TIGR|8360.m00938 (71%) |species == Yeast; gene == CKA1; score == 389; expect == 1e-108; MEOW:SGgn0001297 (56%) |species == Yeast; gene == CKA2; score == 364; expect == 4e-101; MEOW:SGgn0005587 (59%) |species == Worm; gene == B0285.1; score == 135; expect == 3.0e-32; MEOW:CEgn0003336 (29%) |species == Worm; gene == pmk-1; score == 134; expect == 5.2e-32; MEOW:CEgn0003237 (33%) } # EOR GENR { RETE|ID 1 HUgn0001460 CHR 1 6 DID 1 LocusLink:1460 MAP 1 6p21-p12 NAM 1 casein kinase 2, beta polypeptide ORG 1 Homo sapiens SYM 1 CSNK2B ID|HUgn0001460 DID|LocusLink:1460 ORG|Homo sapiens RSQ|REFSEQ:NM_001320 RPA|REFPROT:NP_001311 DBA|XM:NM_001320 |NA:AF129756 |NA:X57152 |NA:AY113186 |NA:X16312 |NA:X16937 |NA:none PAC|XP:NP_001311 SYM|CSNK2B NAM|casein kinase 2, beta polypeptide SYN|G5A |CK2B |CK2N |CSK2B FNC|casein kinase 2, beta polypeptide |signal transduction ; GO:0007165 REAB|This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase |which regulates metabolic pathways, signal transduction, transcription, translation, |and replication. The enzyme is composed of three subunits, alpha, alpha prime and |beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are |catalytic, while the beta subunit serves regulatory functions. The enzyme localizes |to the endoplasmic reticulum and the Golgi apparatus. CHR|6 PRD|phosvitin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73527 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1460[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125235 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001320 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001320 DBL|UNIGENE:Hs.73527 |OMIM:115441 |SNP:1460 ENZ|EC:2.7.1.37 |protein serine/threonine kinase activity ; GO:0004674 |protein kinase CK2, intrinsic regulator activity ; GO:0008605 |transferase activity ; GO:0016740 MAP|6p21-p12 CEL|protein kinase CK2 complex ; GO:0005956 HG|species == Mouse; gene == Csnk2b; score == 422; expect == 4e-119; MEOW:MGgn0001718 (100%) |species == rat; score == 422; expect == 7e-119; MEOW:ref|NP_112283.1| (100%) |species == Zfish; gene == ck2b; score == 418; expect == 1e-117; MEOW:ZFgn0000247 (99%) |species == Mosquito; score == 391; expect == 1e-109; MEOW:AGgn0019984 (89%) |species == Mosquito; score == 391; expect == 1e-109; MEOW:AGgn0027315 (89%) |species == Fruitfly; gene == CkII&bgr;; score == 383; expect == 2e-107; MEOW:FBgn0000259 (89%) |species == Worm; gene == T01G9.6a; score == 359; expect == 8e-100; MEOW:CEgn0027240 (82%) |species == Worm; gene == kin-10; score == 332; expect == 1.1e-91; MEOW:CEgn0001048 (81%) |species == rice; score == 253; expect == 1.4e-67; MEOW:gnl|TIGR|8355.m02906 (60%) |species == rice; score == 252; expect == 1.4e-67; MEOW:gnl|TIGR|8362.m03392 (60%) |species == Weed; gene == At2g44680; score == 246; expect == 7.7e-66; MEOW:ATgn0009382 (58%) |species == Weed; gene == At4g17640; score == 245; expect == 2.9e-65; MEOW:ATgn0018253 (58%) |species == Weed; gene == At5g47080; score == 245; expect == 2.3e-65; MEOW:ATgn0026129 (58%) |species == Weed; gene == At3g60250; score == 239; expect == 1.5e-63; MEOW:ATgn0013185 (56%) |species == Yeast; gene == CKB2; score == 202; expect == 1.5e-52; MEOW:SGgn0005565 (46%) |species == Yeast; gene == CKB1; score == 174; expect == 3.6e-44; MEOW:SGgn0002987 (40%) } # EOR GENR { RETE|ID 1 HUgn0001462 CHR 1 5 DID 1 LocusLink:1462 MAP 1 5q14.3 NAM 1 chondroitin sulfate proteoglycan 2 (versican) ORG 1 Homo sapiens SYM 1 CSPG2 ID|HUgn0001462 DID|LocusLink:1462 ORG|Homo sapiens RSQ|REFSEQ:NM_004385 RPA|REFPROT:NP_004376 DBA|XM:NM_004385 |NA:D32039 |NA:J02814 |NA:U16306 |NA:U26555 |NA:X15998 |NA:none PAC|XP:NP_004376 SYM|CSPG2 NAM|chondroitin sulfate proteoglycan 2 (versican) SYN|VERSICAN FNC|chondroitin sulfate proteoglycan 2 (versican) |cell recognition ; GO:0008037 |development ; GO:0007275 |heterophilic cell adhesion ; GO:0007157 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434488 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1462[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127873 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004385 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004385 DBL|UNIGENE:Hs.434488 |OMIM:118661 |SNP:1462 MAP|5q14.3 ENZ|sugar binding ; GO:0005529 |hyaluronic acid binding ; GO:0005540 |calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 3271; expect == 0.0; MEOW:ref|XP_215451.2| (58%) |species == Mouse; gene == Cspg2; score == 2148; expect == 0.0; MEOW:MGgn0001720 (59%) |species == Human; gene == CSPG3; score == 382; expect == 2e-105; MEOW:HUgn0001463 (38%) |species == Human; gene == AGC1; score == 360; expect == 6.2e-99; MEOW:HUgn0000176 (42%) |species == Human; gene == BCAN; score == 324; expect == 6.4e-88; MEOW:HUgn0063827 (39%) } # EOR GENR { RETE|ID 1 HUgn0001463 CHR 1 19 DID 1 LocusLink:1463 MAP 1 19p12 NAM 1 chondroitin sulfate proteoglycan 3 (neurocan) ORG 1 Homo sapiens SYM 1 CSPG3 ID|HUgn0001463 DID|LocusLink:1463 ORG|Homo sapiens RSQ|REFSEQ:NM_004386 RPA|REFPROT:NP_004377 DBA|XM:NM_004386 |NA:AF026547 |NA:none PAC|XP:NP_004377 SYM|CSPG3 NAM|chondroitin sulfate proteoglycan 3 (neurocan) SYN|NCAN FNC|chondroitin sulfate proteoglycan 3 (neurocan) |cell adhesion ; GO:0007155 |cell motility ; GO:0006928 |heterophilic cell adhesion ; GO:0007157 REAB|Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM] CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169047 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1463[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9786129 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004386 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004386 DBL|UNIGENE:Hs.169047 |OMIM:600826 |SNP:1463 MAP|19p12 ENZ|sugar binding ; GO:0005529 |hyaluronic acid binding ; GO:0005540 |calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Cspg3; score == 1537; expect == 0.0; MEOW:MGgn0001721 (64%) |species == rat; score == 842; expect == 0.0; MEOW:ref|XP_346488.1| (55%) |species == Human; gene == CSPG2; score == 382; expect == 2e-105; MEOW:HUgn0001462 (38%) |species == Human; gene == BCAN; score == 327; expect == 1.9e-89; MEOW:HUgn0063827 (47%) |species == Human; gene == AGC1; score == 325; expect == 2.5e-88; MEOW:HUgn0000176 (50%) } # EOR GENR { RETE|ID 1 HUgn0001464 CHR 1 15 DID 1 LocusLink:1464 MAP 1 15q23 NAM 1 chondroitin sulfate proteoglycan 4 (melanoma-associated) ORG 1 Homo sapiens SYM 1 CSPG4 ID|HUgn0001464 DID|LocusLink:1464 ORG|Homo sapiens RSQ|REFSEQ:NM_001897 RPA|REFPROT:NP_001888 DBA|XM:NM_001897 |NA:AY359468 |NA:X96753 PAC|XP:NP_001888 SYM|CSPG4 NAM|chondroitin sulfate proteoglycan 4 (melanoma-associated) SYN|NG2 |MCSP |MCSPG |MSK16 |MEL-CSPG FNC|melanoma-associated chondroitin sulfate proteoglycan 4 |proton transport ; GO:0015992 |cell motility ; GO:0006928 REAB|A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing |cell-substratum interactions during early events of melanoma cell spreading on endothelial |basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan |expressed by human malignant melanoma cells. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436301 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1464[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5898824 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001897 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001897 DBL|UNIGENE:Hs.436301 |OMIM:601172 |SNP:1464 MAP|15q23 ENZ|ATP binding ; GO:0005524 CEL|proteoglycan integral to plasma membrane ; GO:0005888 HG|species == Mouse; gene == Cspg4; score == 3721; expect == 0.0; MEOW:MGgn0039644 (83%) |species == rat; score == 3704; expect == 0.0; MEOW:ref|NP_112284.1| (83%) |species == Human; gene == LOC342111; score == 2298; expect == 0.0; MEOW:HUgn0342111 (81%) |species == Mosquito; gene == LOC6638; score == 599; expect == 7e-171; MEOW:AGgn0006638 (25%) |species == Worm; gene == C48E7.6; score == 227; expect == 4.9e-59; MEOW:CEgn0006728 (23%) } # EOR GENR { RETE|ID 1 HUgn0001465 CHR 1 1 DID 1 LocusLink:1465 MAP 1 1q32 NAM 1 cysteine and glycine-rich protein 1 ORG 1 Homo sapiens SYM 1 CSRP1 ID|HUgn0001465 DID|LocusLink:1465 ORG|Homo sapiens RSQ|REFSEQ:NM_004078 RPA|REFPROT:NP_004069 DBA|XM:NM_004078 |NA:M76378 |NA:AK057876 |NA:AK122812 |NA:AK126445 |NA:AK126507 |NA:BC004265 |NA:BC007492 |NA:BC018806 |NA:BC030568 |NA:BC032493 |NA:BX537488 |NA:BX641046 |NA:M33146 |NA:none PAC|XP:NP_004069 SYM|CSRP1 NAM|cysteine and glycine-rich protein 1 SYN|CRP |CRP1 |CSRP |D1S181E FNC|cysteine and glycine-rich protein 1 REAB|CSRP1 is a member of the CSRP family of genes encoding a group of LIM domain proteins, |which may be involved in regulatory processes important for development and cellular |differentiation. The LIM/double zinc-finger motif found in CRP1 is found in a group |of proteins with critical functions in gene regulation, cell growth, and somatic |differentiation Other genes in the family include CSRP2 and CSRP3. CHR|1 PRD|LIM-domain protein |cysteine-rich protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=108080 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1465[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135005 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004078 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004078 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=108080 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26967 DBL|UNIGENE:Hs.108080 |OMIM:123876 |SNP:1465 MAP|1q32 ENZ|zinc ion binding ; GO:0008270 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Csrp1; score == 326; expect == 3.6e-90; MEOW:MGgn0001724 (99%) |species == rat; score == 323; expect == 2.7e-89; MEOW:ref|NP_058844.1| (98%) |species == Mouse; gene == Csrp2; score == 297; expect == 3.5e-81; MEOW:MGgn0001725 (79%) |species == rat; score == 297; expect == 3.5e-81; MEOW:ref|NP_803174.1| (79%) |species == Human; gene == CSRP2; score == 296; expect == 4.6e-81; MEOW:HUgn0001466 (79%) |species == Human; gene == CSRP3; score == 288; expect == 9.7e-79; MEOW:HUgn0008048 (69%) |species == Mouse; gene == Csrp3; score == 287; expect == 2.2e-78; MEOW:MGgn0001726 (68%) |species == rat; score == 285; expect == 1.1e-77; MEOW:ref|NP_476485.1| (68%) |species == Fruitfly; gene == Mlp84B; score == 166; expect == 3.6e-41; MEOW:FBgn0014863 (48%) |species == Fruitfly; gene == CG30179; score == 143; expect == 5.6e-35; MEOW:FBgn0050179 (43%) |species == Mosquito; score == 133; expect == 5.8e-32; MEOW:AGgn0026448 (44%) } # EOR GENR { RETE|ID 1 HUgn0001466 CHR 1 12 DID 1 LocusLink:1466 MAP 1 12q21.1 NAM 1 cysteine and glycine-rich protein 2 ORG 1 Homo sapiens SYM 1 CSRP2 ID|HUgn0001466 DID|LocusLink:1466 ORG|Homo sapiens RSQ|REFSEQ:NM_001321 RPA|REFPROT:NP_001312 DBA|XM:NM_001321 |NA:U95018 |NA:BC000992 |NA:U46006 |NA:U57646 |NA:none PAC|XP:NP_001312 SYM|CSRP2 NAM|cysteine and glycine-rich protein 2 SYN|CRP2 |LMO5 FNC|cysteine and glycine-rich protein 2 |muscle development ; GO:0007517 |cell proliferation ; GO:0008283 |cell growth ; GO:0016049 |cell differentiation ; GO:0030154 REAB|CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, |which may be involved in regulatory processes important for development and cellular |differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence |motif (LIM) with putative zinc-binding activity, and may be involved in regulating |ordered cell growth. Other genes in the family include CSRP1 and CSRP3. CHR|12 PRD|SmLIM |LIM domain only 5, smooth muscle URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10526 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1466[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6275874 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001321 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001321 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=10526 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26968 DBL|UNIGENE:Hs.10526 |OMIM:601871 |SNP:1466 MAP|12q21.1 ENZ|molecular_function unknown ; GO:0005554 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Csrp2; score == 372; expect == 6e-104; MEOW:MGgn0001725 (98%) |species == rat; score == 372; expect == 9e-104; MEOW:ref|NP_803174.1| (98%) |species == rat; score == 300; expect == 4.2e-82; MEOW:ref|NP_058844.1| (79%) |species == Human; gene == CSRP1; score == 296; expect == 4.6e-81; MEOW:HUgn0001465 (79%) |species == Human; gene == CSRP3; score == 290; expect == 3.3e-79; MEOW:HUgn0008048 (69%) |species == Fruitfly; gene == Mlp84B; score == 167; expect == 1.2e-41; MEOW:FBgn0014863 (43%) |species == Fruitfly; gene == CG30179; score == 139; expect == 1.1e-33; MEOW:FBgn0050179 (40%) } # EOR GENR { RETE|ID 1 HUgn0001467 CHR 1 3 DID 1 LocusLink:1467 MAP 1 3q21.1 NAM 1 cysteine and glycine-rich protein 2 pseudogene ORG 1 Homo sapiens SYM 1 CSRP2P ID|HUgn0001467 DID|LocusLink:1467 CLA|Pseudogene ORG|Homo sapiens DBA|NA:U72535 SYM|CSRP2P NAM|cysteine and glycine-rich protein 2 pseudogene CHR|3 MAP|3q21.1 DBL|SNP:1467 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6276020 } # EOR GENR { RETE|ID 1 HUgn0001468 CHR 1 17 DID 1 LocusLink:1468 MAP 1 17q25.3 NAM 1 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 ORG 1 Homo sapiens SYM 1 SLC25A10 ID|HUgn0001468 DID|LocusLink:1468 ORG|Homo sapiens RSQ|REFSEQ:NM_012140 RPA|REFPROT:NP_036272 DBA|XM:NM_012140 |NA:AJ131612 |NA:AJ131613 |NA:AK075249 |NA:BC007355 |NA:BC015797 |NA:none PAC|XP:NP_036272 SYM|SLC25A10 NAM|solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 SYN|DIC FNC|solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 |dicarboxylic acid transport ; GO:0006835 |mitochondrial transport ; GO:0006839 |transport ; GO:0006810 |gluconeogenesis ; GO:0006094 REAB|The dicarboxylate carrier catalyzes the transport of dicarboxylates such as malate |and succinate across the mitochondrial membrane in exchange for phosphate, sulfate, |and thiosulfate, thus supplying substrates for the Krebs cycle, gluconeogenesis, |urea synthesis, and sulfur metabolism.[supplied by OMIM] CHR|17 PRD|dicarboxylate ion carrier URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511841 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1468[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862909 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012140 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012140 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511841 DBL|UNIGENE:Hs.511841 |OMIM:606794 |SNP:1468 MAP|17q25.3 ENZ|dicarboxylic acid transporter activity ; GO:0005310 |binding ; GO:0005488 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |inner membrane ; GO:0019866 HG|species == Mouse; gene == Slc25a10; score == 523; expect == 6e-149; MEOW:MGgn0013543 (89%) |species == rat; score == 523; expect == 6e-149; MEOW:ref|NP_596909.1| (90%) |species == Worm; gene == K11G12.5; score == 325; expect == 1.6e-89; MEOW:CEgn0013830 (59%) |species == Mosquito; score == 322; expect == 8.4e-89; MEOW:AGgn0020409 (62%) |species == Mosquito; score == 322; expect == 8.4e-89; MEOW:AGgn0028024 (62%) |species == Fruitfly; gene == CG8790; score == 290; expect == 3.6e-79; MEOW:FBgn0027610 (58%) |species == Mosquito; score == 258; expect == 1.6e-69; MEOW:AGgn0029482 (54%) |species == Weed; gene == At4g24570; score == 195; expect == 2.1e-50; MEOW:ATgn0019090 (40%) |species == Human; gene == SLC25A11; score == 194; expect == 4.0e-50; MEOW:HUgn0008402 (38%) |species == Weed; gene == At2g22500; score == 189; expect == 2.0e-48; MEOW:ATgn0007267 (38%) |species == Yeast; gene == DIC1; score == 188; expect == 4.6e-48; MEOW:SGgn0004340 (40%) |species == rice; score == 188; expect == 7.2e-48; MEOW:gnl|TIGR|8356.m03600 (37%) |species == Weed; gene == At3g54110; score == 169; expect == 1.7e-42; MEOW:ATgn0013330 (36%) |species == Weed; gene == At5g09470; score == 169; expect == 1.2e-42; MEOW:ATgn0022031 (36%) |species == Human; gene == UCP2; score == 167; expect == 5.1e-42; MEOW:HUgn0007351 (37%) |species == Weed; gene == At5g19760; score == 162; expect == 2.1e-40; MEOW:ATgn0025075 (35%) |species == Human; gene == UCP1; score == 162; expect == 2.1e-40; MEOW:HUgn0007350 (35%) |species == Human; gene == UCP3; score == 160; expect == 8.3e-40; MEOW:HUgn0007352 (36%) |species == rice; score == 160; expect == 1.6e-39; MEOW:gnl|TIGR|8358.m03942 (36%) |species == Zfish; gene == ucp2; score == 159; expect == 1.8e-39; MEOW:ZFgn0000572 (36%) |species == rice; score == 154; expect == 7.7e-38; MEOW:gnl|TIGR|8358.m01851 (34%) } # EOR GENR { RETE|ID 1 HUgn0001469 CHR 1 20 DID 1 LocusLink:1469 MAP 1 20p11.21 NAM 1 cystatin SN ORG 1 Homo sapiens SYM 1 CST1 ID|HUgn0001469 DID|LocusLink:1469 ORG|Homo sapiens RSQ|REFSEQ:NM_001898 RPA|REFPROT:NP_001889 DBA|XM:NM_001898 |NA:M19169 |NA:BC021225 |NA:J03870 |NA:none PAC|XP:NP_001889 SYM|CST1 NAM|cystatin SN FNC|cystatin SN precursor REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions, where they appear |to provide protective functions. The cystatin locus on chromosome 20 contains the |majority of the type 2 cystatin genes and pseudogenes. This gene is located in the |cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, |urine, and seminal fluid. CHR|20 PRD|cystatin 1 |cystatin SA-I |cysteine proteinase inhibitor, type 2 family URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123114 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119815 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001898 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001898 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=123114 DBL|UNIGENE:Hs.123114 |OMIM:123855 |SNP:1469 MAP|20p11.21 ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == Human; gene == CST4; score == 231; expect == 9.6e-62; MEOW:HUgn0001472 (90%) |species == Human; gene == CST2; score == 224; expect == 9.0e-60; MEOW:HUgn0001470 (86%) |species == Mouse; gene == Cst3; score == 141; expect == 1.2e-34; MEOW:MGgn0001727 (55%) |species == rat; score == 137; expect == 1.4e-33; MEOW:ref|XP_342539.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0001470 CHR 1 20 DID 1 LocusLink:1470 MAP 1 20p11.21 NAM 1 cystatin SA ORG 1 Homo sapiens SYM 1 CST2 ID|HUgn0001470 DID|LocusLink:1470 ORG|Homo sapiens RSQ|REFSEQ:NM_001322 RPA|REFPROT:NP_001313 DBA|XM:NM_001322 |NA:AF319564 |NA:M19671 |NA:M19672 |NA:M19673 |NA:none PAC|XP:NP_001313 SYM|CST2 NAM|cystatin SA FNC|cystatin SA precursor REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions, where they appear |to provide protective functions. The cystatin locus on chromosome 20 contains the |majority of the type 2 cystatin genes and pseudogenes. This gene is located in the |cystatin locus and encodes a secreted thiol protease inhibitor found at high levels |in saliva, tears and seminal plasma. CHR|20 PRD|cystatin 2 |cystatin S5 |cysteine-proteinase inhibitor |salivary cysteine (thiol) protease inhibitor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247955 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119816 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001322 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001322 DBL|UNIGENE:Hs.247955 |OMIM:123856 |SNP:1470 MAP|20p11.21 ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == Human; gene == CST4; score == 225; expect == 5.3e-60; MEOW:HUgn0001472 (90%) |species == Human; gene == CST1; score == 224; expect == 9.0e-60; MEOW:HUgn0001469 (86%) |species == Mouse; gene == Cst3; score == 139; expect == 6.4e-34; MEOW:MGgn0001727 (53%) |species == rat; score == 137; expect == 1.9e-33; MEOW:ref|XP_342539.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0001471 CHR 1 20 DID 1 LocusLink:1471 MAP 1 20p11.21 NAM 1 cystatin C (amyloid angiopathy and cerebral hemorrhage) ORG 1 Homo sapiens SYM 1 CST3 ID|HUgn0001471 DID|LocusLink:1471 ORG|Homo sapiens RSQ|REFSEQ:NM_000099 RPA|REFPROT:NP_000090 DBA|XM:NM_000099 |NA:M27891 |NA:X52255 |NA:X61681 |NA:X61682 |NA:BC013083 |NA:X05607 PAC|XP:NP_000090 SYM|CST3 NAM|cystatin C (amyloid angiopathy and cerebral hemorrhage) SYN|AD8 FNC|cystatin C precursor REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions, where they appear |to provide protective functions. The cystatin locus on chromosome 20 contains the |majority of the type 2 cystatin genes and pseudogenes. This gene is located in the |cystatin locus and encodes the most abundant extracellular inhibitor of cysteine |proteases, which is found in high concentrations in biological fluids and is expressed |in virtually all organs of the body. A mutation in this gene has been associated |with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle |cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, |establishing its role in vascular disease. CHR|20 PRD|cystatin 3 |gamma-trace |post-gamma-globulin |neuroendocrine basic polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=304682 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1471[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119817 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000099 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000099 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=304682 DBL|UNIGENE:Hs.304682 |OMIM:604312 |SNP:1471 |UWCM:119817.html MAP|20p11.21 PHP|Cerebral amyloid angiopathy ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == rat; score == 194; expect == 9.8e-51; MEOW:ref|XP_342539.1| (75%) |species == Mouse; gene == Cst3; score == 189; expect == 3.2e-49; MEOW:MGgn0001727 (72%) |species == Human; gene == CST2; score == 148; expect == 1.2e-36; MEOW:HUgn0001470 (60%) |species == Human; gene == CST4; score == 147; expect == 2.4e-36; MEOW:HUgn0001472 (57%) |species == Human; gene == CST1; score == 146; expect == 5.3e-36; MEOW:HUgn0001469 (55%) |species == Human; gene == CST5; score == 134; expect == 2.1e-32; MEOW:HUgn0001473 (52%) } # EOR GENR { RETE|ID 1 HUgn0001472 CHR 1 20 DID 1 LocusLink:1472 MAP 1 20p11.21 NAM 1 cystatin S ORG 1 Homo sapiens SYM 1 CST4 ID|HUgn0001472 DID|LocusLink:1472 ORG|Homo sapiens RSQ|REFSEQ:NM_001899 RPA|REFPROT:NP_001890 DBA|XM:NM_001899 |NA:AF319565 |NA:S51222 |NA:X54667 |NA:none PAC|XP:NP_001890 SYM|CST4 NAM|cystatin S FNC|cystatin S precursor REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions. The cystatin locus |on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. |This gene is located in the cystatin locus and encodes a type 2 salivary cysteine |peptidase inhibitor. The protein is an S-type cystatin, based on its high level |of expression in saliva, tears and seminal plasma. The specific role in these fluids |is unclear but antibacterial and antiviral activity is present, consistent with |a protective function. CHR|20 PRD|cystatin 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=56319 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136381 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001899 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001899 DBL|UNIGENE:Hs.56319 |OMIM:123857 |SNP:1472 MAP|20p11.21 ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == Human; gene == CST1; score == 231; expect == 9.6e-62; MEOW:HUgn0001469 (90%) |species == Human; gene == CST2; score == 225; expect == 5.3e-60; MEOW:HUgn0001470 (90%) |species == Mouse; gene == Cst3; score == 137; expect == 9.8e-34; MEOW:MGgn0001727 (54%) |species == rat; score == 137; expect == 1.5e-33; MEOW:ref|XP_342539.1| (53%) } # EOR GENR { RETE|ID 1 HUgn0001473 CHR 1 20 DID 1 LocusLink:1473 MAP 1 20p11.21 NAM 1 cystatin D ORG 1 Homo sapiens SYM 1 CST5 ID|HUgn0001473 DID|LocusLink:1473 ORG|Homo sapiens RSQ|REFSEQ:NM_001900 RPA|REFPROT:NP_001891 DBA|XM:NM_001900 |NA:X59964 |NA:X70377 |NA:none PAC|XP:NP_001891 SYM|CST5 NAM|cystatin D FNC|cystatin D precursor REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions. The cystatin locus |on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. |This gene is located in the cystatin locus and encodes a protein found in saliva |and tears. The specific function of this cystatin family member is unknown but it |has been suggested that it may play a protective role against proteinases present |in the oral cavity. CHR|20 PRD|cystatin 5 |cysteine-proteinase inhibitor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121489 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136380 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001900 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001900 DBL|UNIGENE:Hs.121489 |OMIM:123858 |SNP:1473 MAP|20p11.21 ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == Human; gene == CST4; score == 154; expect == 2.0e-38; MEOW:HUgn0001472 (57%) |species == Human; gene == CST2; score == 151; expect == 1.3e-37; MEOW:HUgn0001470 (56%) |species == Human; gene == CST1; score == 148; expect == 1.1e-36; MEOW:HUgn0001469 (56%) |species == Human; gene == CST3; score == 134; expect == 2.1e-32; MEOW:HUgn0001471 (52%) } # EOR GENR { RETE|ID 1 HUgn0001474 CHR 1 11 DID 1 LocusLink:1474 MAP 1 11q13 NAM 1 cystatin E/M ORG 1 Homo sapiens SYM 1 CST6 ID|HUgn0001474 DID|LocusLink:1474 ORG|Homo sapiens RSQ|REFSEQ:NM_001323 RPA|REFPROT:NP_001314 DBA|XM:NM_001323 |NA:AI127639 |NA:BC031334 |NA:U62800 |NA:U81233 |NA:none PAC|XP:NP_001314 SYM|CST6 NAM|cystatin E/M FNC|cystatin M precursor |embryogenesis and morphogenesis ; GO:0007345 REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase |inhibitors found in a variety of human fluids and secretions, where they appear |to provide protective functions. This gene encodes a cystatin from the type 2 family, |which is down-regulated in metastatic breast tumor cells as compared to primary |tumor cells. Loss of expression is likely associated with the progression of a primary |tumor to a metastatic phenotype. CHR|11 PRD|cystatin 6 |cystatin M URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=139389 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1474[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5215248 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001323 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001323 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=139389 DBL|UNIGENE:Hs.139389 |OMIM:601891 |SNP:1474 MAP|11q13 ENZ|cysteine protease inhibitor activity ; GO:0004869 HG|species == rat; score == 203; expect == 4.2e-53; MEOW:ref|NP_598250.1| (69%) |species == Mouse; gene == Cst6; score == 199; expect == 4.1e-52; MEOW:MGgn0015897 (69%) } # EOR GENR { RETE|ID 1 HUgn0001475 CHR 1 3 DID 1 LocusLink:1475 MAP 1 3q21 NAM 1 cystatin A (stefin A) ORG 1 Homo sapiens SYM 1 CSTA ID|HUgn0001475 DID|LocusLink:1475 ORG|Homo sapiens RSQ|REFSEQ:NM_005213 RPA|REFPROT:NP_005204 DBA|XM:NM_005213 |NA:AB007774 |NA:AB008218 |NA:D88421 |NA:D88422 |NA:D88439 |NA:M27784 |NA:BC010379 |NA:X05978 |NA:none PAC|XP:NP_005204 SYM|CSTA NAM|cystatin A (stefin A) SYN|STF1 |STFA FNC|cystatin A REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, |and kininogens. This gene encodes a stefin that functions as a cysteine protease |inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The |protein is one of the precursor proteins of cornified cell envelope in keratinocytes |and plays a role in epidermal development and maintenance. Stefins have been proposed |as prognostic and diagnostic tools for cancer. CHR|3 PRD|stefin A |cystatin AS URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412999 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1475[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128150 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005213 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005213 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=412999 DBL|UNIGENE:Hs.412999 |OMIM:184600 |SNP:1475 MAP|3q21 ENZ|cysteine protease inhibitor activity ; GO:0004869 } # EOR GENR { RETE|ID 1 HUgn0001476 CHR 1 21 DID 1 LocusLink:1476 MAP 1 21q22.3 NAM 1 cystatin B (stefin B) ORG 1 Homo sapiens SYM 1 CSTB ID|HUgn0001476 DID|LocusLink:1476 ORG|Homo sapiens RSQ|REFSEQ:NM_000100 RPA|REFPROT:NP_000091 DBA|XM:NM_000100 |NA:AF208234 |NA:U46692 |NA:BC003370 |NA:BC010532 |NA:L03558 |NA:none PAC|XP:NP_000091 SYM|CSTB NAM|cystatin B (stefin B) SYN|PME |CST6 |STFB FNC|cystatin B REAB|The cystatin superfamily encompasses proteins that contain multiple cystatin-like |sequences. Some of the members are active cysteine protease inhibitors, while others |have lost or perhaps never acquired this inhibitory activity. There are three inhibitory |families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins |and kininogens. This gene encodes a stefin that functions as an intracellular thiol |protease inhibitor. The protein is able to form a dimer stabilized by noncovalent |forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play |a role in protecting against the proteases leaking from lysosomes. Evidence indicates |that mutations in this gene are responsible for the primary defects in patients |with progressive myoclonic epilepsy (EPM1). CHR|21 PRD|CPI-B |stefin B |liver thiol proteinase inhibitor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=695 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1476[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5215249 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000100 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000100 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=695 |http://www.geneclinics.org/query?mim=601145 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26984 DBL|UNIGENE:Hs.695 |OMIM:601145 |SNP:1476 |UWCM:5215249.html MAP|21q22.3 PHP|Epilepsy, progressive myoclonic 1 ENZ|cysteine protease inhibitor activity ; GO:0004869 CEL|nucleus ; GO:0005634 HG|species == chimp; score == 200; expect == 2.5e-54; MEOW:sp|Q8I030|Q8I030 (98%) |species == Mouse; gene == Cstb; score == 161; expect == 2.9e-41; MEOW:MGgn0001731 (78%) |species == rat; score == 161; expect == 5.9e-41; MEOW:ref|NP_036970.1| (78%) } # EOR GENR { RETE|ID 1 HUgn0001477 CHR 1 20 DID 1 LocusLink:1477 MAP 1 20q13.31 NAM 1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa ORG 1 Homo sapiens SYM 1 CSTF1 ID|HUgn0001477 DID|LocusLink:1477 ORG|Homo sapiens RSQ|REFSEQ:NM_001324 RPA|REFPROT:NP_001315 DBA|XM:NM_001324 |NA:BC001011 |NA:BC007425 |NA:BT007138 |NA:L02547 |NA:none PAC|XP:NP_001315 SYM|CSTF1 NAM|cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa FNC|cleavage stimulation factor subunit 1 |mRNA polyadenylation ; GO:0006378 |mRNA cleavage ; GO:0006379 |RNA processing ; GO:0006396 REAB|This gene encodes one of three subunits which combine to form cleavage stimulation |factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. |Similar to mammalian G protein beta subunits, this protein contains transducin-like |repeats. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172865 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1477[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137081 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001324 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001324 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172865 DBL|UNIGENE:Hs.172865 |OMIM:600369 |SNP:1477 MAP|20q13.31 ENZ|RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cstf1; score == 877; expect == 0.0; MEOW:MGgn0018010 (99%) |species == rat; score == 853; expect == 0.0; MEOW:ref|XP_230890.1| (90%) |species == Mosquito; gene == LOC22165; score == 486; expect == 1e-137; MEOW:AGgn0022165 (56%) |species == Fruitfly; gene == CstF-50; score == 306; expect == 8.5e-84; MEOW:FBgn0039867 (51%) |species == Weed; gene == At5g60940; score == 287; expect == 9.1e-78; MEOW:ATgn0021562 (37%) |species == rice; score == 254; expect == 1.4e-67; MEOW:gnl|TIGR|8360.m04879 (36%) } # EOR GENR { RETE|ID 1 HUgn0001478 CHR 1 X DID 1 LocusLink:1478 MAP 1 Xq22.1 NAM 1 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa ORG 1 Homo sapiens SYM 1 CSTF2 ID|HUgn0001478 DID|LocusLink:1478 ORG|Homo sapiens RSQ|REFSEQ:NM_001325 RPA|REFPROT:NP_001316 DBA|XM:NM_001325 |NA:AK095684 |NA:BC017712 |NA:BC033135 |NA:BT009778 |NA:M85085 |NA:none PAC|XP:NP_001316 SYM|CSTF2 NAM|cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa FNC|cleavage stimulation factor subunit 2 |mRNA polyadenylation ; GO:0006378 |mRNA cleavage ; GO:0006379 REAB|CSTF2 is one of three (including CSTF1 and CSTF3) cleavage stimulation factors which |combine to form CSTF which is involved in the polyadenylation and 3'end cleavage |of pre-mRNAs. CSTF2 contains a ribonucleoprotein-type RNA binding domain. CSTF2 |is upregulated during activation of B cells which results in the switch of IgM heavy |chain mRNA from membrane bound form to the secreted form. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432450 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1478[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137080 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001325 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001325 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=432450 DBL|UNIGENE:Hs.432450 |OMIM:600368 |SNP:1478 MAP|Xq22.1 ENZ|RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cstf2; score == 805; expect == 0.0; MEOW:MGgn0001732 (93%) |species == Human; gene == CSTF2T; score == 628; expect == 2e-180; MEOW:HUgn0023283 (68%) |species == rat; score == 619; expect == 1e-177; MEOW:ref|XP_219809.2| (65%) |species == Fruitfly; gene == CstF-64; score == 286; expect == 1.7e-77; MEOW:FBgn0027841 (48%) |species == Mosquito; gene == LOC12477; score == 262; expect == 2.5e-70; MEOW:AGgn0012477 (60%) |species == Mosquito; score == 241; expect == 5.9e-64; MEOW:AGgn0003770 (60%) |species == Weed; gene == At1g71800; score == 163; expect == 1.6e-40; MEOW:ATgn0004019 (32%) } # EOR GENR { RETE|ID 1 HUgn0001479 CHR 1 11 DID 1 LocusLink:1479 MAP 1 11p13 NAM 1 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa ORG 1 Homo sapiens SYM 1 CSTF3 ID|HUgn0001479 DID|LocusLink:1479 ORG|Homo sapiens RSQ|REFSEQ:NM_001326 RPA|REFPROT:NP_001317 DBA|XM:NM_001326 |NA:BC009792 |NA:BC010533 |NA:U15782 PAC|XP:NP_001317 SYM|CSTF3 NAM|cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa FNC|cleavage stimulation factor subunit 3 |mRNA polyadenylation ; GO:0006378 |mRNA cleavage ; GO:0006379 REAB|CSTF3 is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that |combine to form CSTF. CSTF is involved in the polyadenylation and 3'end cleavage |of pre-mRNAs. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=180034 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1479[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:437112 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001326 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001326 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=180034 DBL|UNIGENE:Hs.180034 |OMIM:600367 |SNP:1479 MAP|11p13 ENZ|RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Cstf3; score == 1340; expect == 0.0; MEOW:MGgn0013350 (99%) |species == rat; score == 1258; expect == 0.0; MEOW:ref|XP_342478.1| (94%) |species == Fruitfly; gene == su(f); score == 805; expect == 0.0; MEOW:FBgn0003559 (57%) |species == Worm; gene == suf-1; score == 682; expect == 0.0; MEOW:CEgn0002746 (49%) |species == Weed; gene == At1g17760; score == 384; expect == 1e-106; MEOW:ATgn0006611 (32%) |species == rice; score == 375; expect == 6e-104; MEOW:gnl|TIGR|8359.m03645 (32%) |species == Mosquito; score == 253; expect == 6.2e-68; MEOW:AGgn0029672 (56%) |species == Yeast; gene == RNA14; score == 218; expect == 8.9e-57; MEOW:SGgn0004665 (26%) } # EOR GENR { RETE|ID 1 HUgn0001480 CHR 1 20 DID 1 LocusLink:1480 MAP 1 20p11 NAM 1 cystatin pseudogene 1 ORG 1 Homo sapiens SYM 1 CSTP1 ID|HUgn0001480 DID|LocusLink:1480 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL121831 SYM|CSTP1 NAM|cystatin pseudogene 1 SYN|dJ850N15.1 CHR|20 MAP|20p11 DBL|SNP:1480 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118778 } # EOR GENR { RETE|ID 1 HUgn0001481 CHR 1 20 DID 1 LocusLink:1481 MAP 1 20p11.21 NAM 1 cystatin pseudogene 2 ORG 1 Homo sapiens SYM 1 CSTP2 ID|HUgn0001481 DID|LocusLink:1481 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF319563 SYM|CSTP2 NAM|cystatin pseudogene 2 CHR|20 PRD|type 2 cystatin pseudogene MAP|20p11.21 DBL|SNP:1481 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:344759 } # EOR GENR { RETE|ID 1 HUgn0001482 CHR 1 5 DID 1 LocusLink:1482 MAP 1 5q34 NAM 1 NK2 transcription factor related, locus 5 (Drosophila) ORG 1 Homo sapiens SYM 1 NKX2-5 ID|HUgn0001482 DID|LocusLink:1482 ORG|Homo sapiens RSQ|REFSEQ:NM_004387 RPA|REFPROT:NP_004378 DBA|XM:NM_004387 |NA:AB021133 |NA:BC025711 |NA:U34962 |NA:none PAC|XP:NP_004378 SYM|NKX2-5 NAM|NK2 transcription factor related, locus 5 (Drosophila) SYN|CSX |CSX1 |NKX2E |NKX2.5 FNC|NK2 transcription factor related, locus 5 |heart development ; GO:0007507 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 |transcription from Pol II promoter ; GO:0006366 REAB|Homeo box-containing genes play critical roles in regulating tissue-specific gene |expression essential for tissue differentiation, as well as determining the temporal |and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It |has been demonstrated that a Drosophila homeo box-containing gene called 'tinman' |is expressed in the developing dorsal vessel and in the equivalent of the vertebrate |heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting |that tinman is essential for Drosophila heart formation. Furthermore, abundant expression |of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from |the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a |homeodomain sequence identical to that of Csx and is expressed only in the heart, |again suggesting that CSX plays an important role in human heart formation.[supplied |by OMIM] CHR|5 PRD|cardiac-specific homeo box |NK2 transcription factor homolog E (Drosophila) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54473 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1482[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:451951 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004387 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004387 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=54473 |http://www.geneclinics.org/query?mim=600584 DBL|UNIGENE:Hs.54473 |OMIM:600584 |SNP:1482 MAP|5q34 PHP|Atrial septal defect with atrioventricular conduction defects |Atrioventricular block, idiopathic second-degree |Tetrology of Fallot ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 376; expect == 1e-104; MEOW:ref|NP_446103.1| (79%) |species == Zfish; gene == nkx2.5; score == 250; expect == 8.1e-67; MEOW:ZFgn0000093 (50%) |species == Mouse; gene == Nkx2-3; score == 171; expect == 5.8e-43; MEOW:MGgn0008334 (45%) |species == Human; gene == NKX2-3; score == 167; expect == 4.8e-42; MEOW:HUgn0159296 (49%) |species == Mouse; gene == Nkx2-6; score == 162; expect == 2.0e-40; MEOW:MGgn0008337 (38%) |species == Human; gene == LOC137814; score == 161; expect == 1.1e-39; MEOW:HUgn0137814 (40%) } # EOR GENR { RETE|ID 1 HUgn0001483 CHR 1 14 DID 1 LocusLink:1483 MAP 1 14q24-qter NAM 1 cataract, anterior polar 1 ORG 1 Homo sapiens SYM 1 CTAA1 ID|HUgn0001483 DID|LocusLink:1483 ORG|Homo sapiens SYM|CTAA1 NAM|cataract, anterior polar 1 SYN|CAP CHR|14 PRD|Cataract, anterior polar, 1 DBL|OMIM:115650 MAP|14q24-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265299 |http://www.geneclinics.org/query?mim=115650 } # EOR GENR { RETE|ID 1 HUgn0001484 CHR 1 17 DID 1 LocusLink:1484 MAP 1 17p13 NAM 1 cataract, anterior polar 2 ORG 1 Homo sapiens SYM 1 CTAA2 ID|HUgn0001484 DID|LocusLink:1484 ORG|Homo sapiens SYM|CTAA2 NAM|cataract, anterior polar 2 CHR|17 DBL|OMIM:601202 MAP|17p13 PHP|Cataract, anterior polar-2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265300 |http://www.geneclinics.org/query?mim=601202 } # EOR GENR { RETE|ID 1 HUgn0001485 CHR 1 X DID 1 LocusLink:1485 MAP 1 Xq28 NAM 1 cancer/testis antigen 1 ORG 1 Homo sapiens SYM 1 CTAG1 ID|HUgn0001485 DID|LocusLink:1485 ORG|Homo sapiens RSQ|REFSEQ:NM_001327 RPA|REFPROT:NP_001318 DBA|XM:NM_001327 |NA:AF277315 |NA:AJ275977 |NA:AF038567 |NA:AJ003149 |NA:AJ275978 |NA:U87459 PAC|XP:NP_001318 SYM|CTAG1 NAM|cancer/testis antigen 1 SYN|CTAG |ESO1 |LAGE2B |NY-ESO-1 FNC|cancer/testis antigen 1-B CHR|X PRD|cancer antigen 3 |New York esophageal squamous cell carcinoma 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=167379 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6261906 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001327 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001327 DBL|UNIGENE:Hs.167379 |OMIM:300156 |SNP:1485 MAP|Xq28 PHP|Cancer-testis antigen ENZ|tumor antigen ; GO:0008222 HG|species == Human; gene == LAGE2A; score == 189; expect == 7.0e-49; MEOW:HUgn0246100 (100%) } # EOR GENR { RETE|ID 1 HUgn0001486 CHR 1 1 DID 1 LocusLink:1486 MAP 1 1p22 NAM 1 chitobiase, di-N-acetyl- ORG 1 Homo sapiens SYM 1 CTBS ID|HUgn0001486 DID|LocusLink:1486 ORG|Homo sapiens RSQ|REFSEQ:NM_004388 RPA|REFPROT:NP_004379 DBA|XM:NM_004388 |NA:AF085706 |NA:AK075423 |NA:BC024007 |NA:M95767 |NA:none PAC|XP:NP_004379 SYM|CTBS NAM|chitobiase, di-N-acetyl- SYN|CTB FNC|chitobiase, di-N-acetyl- |carbohydrate metabolism ; GO:0005975 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=135578 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1486[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133038 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004388 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004388 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=135578 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00530 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00520 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00531 DBL|UNIGENE:Hs.135578 |OMIM:600873 |SNP:1486 MAP|1p22 CEL|lysosome ; GO:0005764 ENZ|hydrolase activity, acting on glycosyl bonds ; GO:0016798 HG|species == rat; score == 626; expect == 5e-180; MEOW:ref|NP_112285.1| (82%) |species == Mouse; gene == 2210401K11Rik; score == 515; expect == 1e-146; MEOW:MGgn0019293 (73%) } # EOR GENR { RETE|ID 1 HUgn0001487 CHR 1 4 DID 1 LocusLink:1487 MAP 1 4p16 NAM 1 C-terminal binding protein 1 ORG 1 Homo sapiens SYM 1 CTBP1 ID|HUgn0001487 DID|LocusLink:1487 ORG|Homo sapiens RSQ|REFSEQ:NM_001328 RPA|REFPROT:NP_001319 DBA|XM:NM_001328 |NA:AF091555 |NA:BC011655 |NA:BC053320 |NA:U37408 |NA:none PAC|XP:NP_001319 SYM|CTBP1 NAM|C-terminal binding protein 1 FNC|C-terminal binding protein 1 |viral replication ; GO:0008166 |negative regulation of cell proliferation ; GO:0008285 |L-serine biosynthesis ; GO:0006564 |protein amino acid phosphorylation ; GO:0006468 REAB|The phosphoprotein C-terminal binding protein 1 (CTBP-1) binds the C-terminus of |adenovirus E1A protein. CTBP-1 is a transcriptional repressor and may play a role |during cellular proliferation. A second closely related gene, CTBP2, maps to chromosome |21. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=196083 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1487[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6837516 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001328 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001328 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=196083 DBL|UNIGENE:Hs.196083 |OMIM:602618 |SNP:1487 MAP|4p16 ENZ|protein C-terminus binding ; GO:0008022 |oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ; GO:0016616 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ctbp1; score == 796; expect == 0.0; MEOW:MGgn0001734 (98%) |species == rat; score == 769; expect == 0.0; MEOW:ref|NP_062074.2| (98%) |species == Human; gene == CTBP2; score == 664; expect == 0.0; MEOW:HUgn0001488 (80%) |species == Zfish; gene == ctbp1; score == 664; expect == 0.0; MEOW:ZFgn0002011 (81%) |species == Mouse; gene == Ctbp2; score == 662; expect == 0.0; MEOW:MGgn0001735 (80%) |species == rat; score == 662; expect == 0.0; MEOW:ref|NP_445787.1| (80%) |species == Zfish; gene == ctbp2; score == 644; expect == 0.0; MEOW:ZFgn0002024 (80%) |species == Mosquito; score == 531; expect == 2e-151; MEOW:AGgn0017163 (75%) |species == Fruitfly; gene == CtBP; score == 525; expect == 2e-149; MEOW:FBgn0020496 (72%) |species == Mosquito; gene == LOC23489; score == 510; expect == 4e-145; MEOW:AGgn0023489 (75%) |species == Mosquito; gene == LOC25167; score == 510; expect == 4e-145; MEOW:AGgn0025167 (75%) |species == Worm; gene == F49E10.5; score == 389; expect == 3e-108; MEOW:CEgn0011371 (53%) |species == rice; score == 132; expect == 8.4e-31; MEOW:gnl|TIGR|8356.m03347 (31%) } # EOR GENR { RETE|ID 1 HUgn0001488 CHR 1 10 DID 1 LocusLink:1488 MAP 1 10q26.2 NAM 1 C-terminal binding protein 2 ORG 1 Homo sapiens SYM 1 CTBP2 ID|HUgn0001488 DID|LocusLink:1488 ORG|Homo sapiens RSQ|REFSEQ:NM_001329 |REFSEQ:NM_022802 RPA|REFPROT:NP_001320 |REFPROT:NP_073713 DBA|XM:NM_001329 |XM:NM_022802 |NA:AF016507 |NA:AF222711 |NA:AL833398 |NA:BC002486 |NA:BC037900 |NA:BC047018 |NA:BC052276 |NA:BT007012 PAC|XP:NP_001320 |XP:NP_073713 SYM|CTBP2 NAM|C-terminal binding protein 2 FNC|C-terminal binding protein 2 isoform 1 |C-terminal binding protein 2 isoform 2 |viral replication ; GO:0008166 |negative regulation of cell proliferation ; GO:0008285 REAB|This gene produces two transcripts encoding two distinct proteins. One protein is |a transcriptional repressor, while the other isoform is a major component of specialized |synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain |similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated |region was used to map this gene to chromosome 21q21.3; however, it was noted that |similar loci elsewhere in the genome are likely. Blast analysis shows that this |gene is present on chromosome 10. CHR|10 PRD|ribeye URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171391 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1488[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6837517 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022802 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022802 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171391 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26996 DBL|UNIGENE:Hs.171391 |OMIM:602619 |SNP:1488 MAP|10q26.2 ENZ|tumor suppressor ; GO:0008181 HG|species == Mouse; gene == Ctbp2; score == 824; expect == 0.0; MEOW:MGgn0001735 (99%) |species == rat; score == 783; expect == 0.0; MEOW:ref|NP_445787.1| (99%) |species == Zfish; gene == ctbp2; score == 741; expect == 0.0; MEOW:ZFgn0002024 (89%) |species == Human; gene == CTBP1; score == 664; expect == 0.0; MEOW:HUgn0001487 (80%) |species == rat; score == 657; expect == 0.0; MEOW:ref|NP_062074.2| (80%) |species == Zfish; gene == ctbp1; score == 655; expect == 0.0; MEOW:ZFgn0002011 (75%) |species == Human; gene == LOC120449; score == 573; expect == 6e-164; MEOW:HUgn0120449 (77%) |species == Fruitfly; gene == CtBP; score == 533; expect == 6e-152; MEOW:FBgn0020496 (72%) |species == Mosquito; score == 530; expect == 5e-151; MEOW:AGgn0017163 (72%) |species == Mosquito; gene == LOC23489; score == 502; expect == 1e-142; MEOW:AGgn0023489 (72%) |species == Mosquito; gene == LOC25167; score == 502; expect == 1e-142; MEOW:AGgn0025167 (72%) |species == Worm; gene == F49E10.5; score == 387; expect == 1e-107; MEOW:CEgn0011371 (52%) } # EOR GENR { RETE|ID 1 HUgn0001489 CHR 1 16 DID 1 LocusLink:1489 MAP 1 16p11.2-p11.1 NAM 1 cardiotrophin 1 ORG 1 Homo sapiens SYM 1 CTF1 ID|HUgn0001489 DID|LocusLink:1489 ORG|Homo sapiens RSQ|REFSEQ:NM_001330 RPA|REFPROT:NP_001321 DBA|XM:NM_001330 |NA:U43033 |NA:BC036787 |NA:BC049822 |NA:U43030 |NA:none PAC|XP:NP_001321 SYM|CTF1 NAM|cardiotrophin 1 SYN|CT1 |CT-1 FNC|cardiotrophin 1 |positive regulation of cell proliferation ; GO:0008284 |muscle development ; GO:0007517 |cell surface receptor linked signal transduction ; GO:0007166 |neurogenesis ; GO:0007399 |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 CHR|16 PRD|cardiophin 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433319 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1489[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:567078 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001330 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001330 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433319 DBL|UNIGENE:Hs.433319 |OMIM:600435 |SNP:1489 MAP|16p11.2-p11.1 ENZ|leukemia inhibitory factor receptor binding ; GO:0005146 |cytokine activity ; GO:0005125 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001490 CHR 1 6 DID 1 LocusLink:1490 MAP 1 6q23.1 NAM 1 connective tissue growth factor ORG 1 Homo sapiens SYM 1 CTGF ID|HUgn0001490 DID|LocusLink:1490 ORG|Homo sapiens RSQ|REFSEQ:NM_001901 RPA|REFPROT:NP_001892 DBA|XM:NM_001901 |NA:AK092280 |NA:AK125220 |NA:AY395801 |NA:M92934 |NA:U14750 |NA:X78947 |NA:none PAC|XP:NP_001892 SYM|CTGF NAM|connective tissue growth factor SYN|CCN2 |NOV2 |IGFBP8 FNC|connective tissue growth factor |epidermal differentiation ; GO:0008544 |cell growth and/or maintenance ; GO:0008151 |response to wounding ; GO:0009611 |cell adhesion ; GO:0007155 |cell motility ; GO:0006928 |DNA metabolism ; GO:0006259 |regulation of cell growth ; GO:0001558 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410037 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1490[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134651 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001901 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001901 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27003 DBL|UNIGENE:Hs.410037 |OMIM:121009 |SNP:1490 MAP|6q23.1 ENZ|insulin-like growth factor binding ; GO:0005520 |heparin binding ; GO:0008201 |cell adhesion molecule activity ; GO:0005194 CEL|extracellular matrix ; GO:0005578 |soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 |plasma membrane ; GO:0005886 HG|species == rat; score == 705; expect == 0.0; MEOW:ref|NP_071602.1| (91%) |species == Mouse; gene == Ctgf; score == 703; expect == 0.0; MEOW:MGgn0004324 (90%) |species == Human; gene == NOV; score == 393; expect == 7e-110; MEOW:HUgn0004856 (53%) |species == Human; gene == CYR61; score == 360; expect == 8e-100; MEOW:HUgn0003491 (46%) |species == Human; gene == WISP1; score == 333; expect == 1.1e-91; MEOW:HUgn0008840 (46%) } # EOR GENR { RETE|ID 1 HUgn0001491 CHR 1 1 DID 1 LocusLink:1491 MAP 1 1p31.1 NAM 1 cystathionase (cystathionine gamma-lyase) ORG 1 Homo sapiens SYM 1 CTH ID|HUgn0001491 DID|LocusLink:1491 ORG|Homo sapiens RSQ|REFSEQ:NM_001902 |REFSEQ:NM_153742 RPA|REFPROT:NP_001893 |REFPROT:NP_714964 DBA|XM:NM_001902 |XM:NM_153742 |NA:AL354872 |NA:BC015807 |NA:BT006882 |NA:S52028 |NA:S52784 |NA:none PAC|XP:NP_001893 |XP:NP_714964 SYM|CTH NAM|cystathionase (cystathionine gamma-lyase) SYN|MGC9471 FNC|cystathionase isoform 1 |cystathionase isoform 2 |amino acid metabolism ; GO:0006520 |cysteine biosynthesis ; GO:0019344 REAB|This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts |cystathione derived from methionine into cysteine. Glutathione synthesis in the |liver is dependent upon the availability of cysteine. Mutations in this gene cause |cystathioninuria. Alternative splicing of this gene results in two transcript variants |encoding different isoforms. CHR|1 PRD|gamma-cystathionase |homoserine deaminase |cysteine desulfhydrase |homoserine dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19904 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1491[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119086 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001902 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001902 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19904 |http://www.geneclinics.org/query?mim=219500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00272 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00910 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00450 DBL|UNIGENE:Hs.19904 |OMIM:607657 |SNP:1491 ENZ|EC:4.4.1.1 |cystathionine gamma-lyase activity ; GO:0004123 |lyase activity ; GO:0016829 MAP|1p31.1 PHP|Cystathioninuria HG|species == rat; score == 660; expect == 0.0; MEOW:ref|NP_058770.1| (84%) |species == Mouse; gene == Cth; score == 658; expect == 0.0; MEOW:MGgn0001739 (85%) |species == Fruitfly; gene == Eip55E; score == 491; expect == 2e-139; MEOW:FBgn0000566 (62%) |species == Mosquito; gene == LOC22045; score == 477; expect == 4e-135; MEOW:AGgn0022045 (61%) |species == Worm; gene == ZK1127.10; score == 451; expect == 2e-127; MEOW:CEgn0021413 (59%) |species == Worm; gene == F22B8.6; score == 441; expect == 2e-124; MEOW:CEgn0009061 (56%) |species == Yeast; gene == CYS3; score == 369; expect == 1e-102; MEOW:SGgn0000010 (51%) |species == Weed; gene == At3g57050; score == 304; expect == 7.8e-83; MEOW:ATgn0016481 (43%) |species == rice; score == 292; expect == 4.2e-79; MEOW:gnl|TIGR|8354.m00686 (43%) |species == rice; score == 292; expect == 3.2e-79; MEOW:gnl|TIGR|8354.m00696 (43%) |species == ecoli; score == 266; expect == 1.4e-71; MEOW:ref|NP_418374.1| (41%) |species == Weed; gene == At3g01120; score == 253; expect == 2.6e-67; MEOW:ATgn0011944 (41%) |species == rice; score == 241; expect == 5.9e-64; MEOW:gnl|TIGR|8360.m02351 (39%) } # EOR GENR { RETE|ID 1 HUgn0001492 CHR 1 22 DID 1 LocusLink:1492 MAP 1 22q11 NAM 1 cono-truncal heart malformation ORG 1 Homo sapiens SYM 1 CTHM ID|HUgn0001492 DID|LocusLink:1492 ORG|Homo sapiens SYM|CTHM NAM|cono-truncal heart malformation CHR|22 PRD|Conotruncal cardiac anomalies DBL|OMIM:217095 MAP|22q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:439247 } # EOR GENR { RETE|ID 1 HUgn0001493 CHR 1 2 DID 1 LocusLink:1493 MAP 1 2q33 NAM 1 cytotoxic T-lymphocyte-associated protein 4 ORG 1 Homo sapiens SYM 1 CTLA4 ID|HUgn0001493 DID|LocusLink:1493 ORG|Homo sapiens RSQ|REFSEQ:NM_005214 RPA|REFPROT:NP_005205 DBA|XM:NM_005214 |NA:AF142144 |NA:M37243 |NA:M37244 |NA:M37245 |NA:AF414120 |NA:L15006 |NA:none PAC|XP:NP_005205 SYM|CTLA4 NAM|cytotoxic T-lymphocyte-associated protein 4 SYN|CD152 FNC|cytotoxic T-lymphocyte-associated protein 4 |immune response ; GO:0006955 CHR|2 PRD|cytotoxic T-lymphocyte-associated serine esterase-4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247824 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1493[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119818 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005214 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005214 DBL|UNIGENE:Hs.247824 |OMIM:123890 |SNP:1493 |PROW:1686349937 MAP|2q33 PHP|Graves disease, susceptibility to |Hypothyroidism, autoimmune CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 351; expect == 1.5e-97; MEOW:ref|NP_113862.1| (75%) |species == Mouse; gene == Ctla4; score == 346; expect == 4.3e-96; MEOW:MGgn0001159 (74%) } # EOR GENR { RETE|ID 1 HUgn0001494 CHR 1 16 DID 1 LocusLink:1494 MAP 1 16q22.1 NAM 1 cataract, Marner ORG 1 Homo sapiens SYM 1 CTM ID|HUgn0001494 DID|LocusLink:1494 ORG|Homo sapiens SYM|CTM NAM|cataract, Marner CHR|16 DBL|OMIM:116800 MAP|16q22.1 PHP|Cataract, Marner type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119819 } # EOR GENR { RETE|ID 1 HUgn0001495 CHR 1 5 DID 1 LocusLink:1495 MAP 1 5q31 NAM 1 catenin (cadherin-associated protein), alpha 1, 102kDa ORG 1 Homo sapiens SYM 1 CTNNA1 ID|HUgn0001495 DID|LocusLink:1495 ORG|Homo sapiens RSQ|REFSEQ:NM_001903 RPA|REFPROT:NP_001894 DBA|XM:NM_001903 |NA:AK055751 |NA:BC000385 |NA:BC031262 |NA:D13866 |NA:D14705 |NA:L23805 |NA:U03100 |NA:none PAC|XP:NP_001894 SYM|CTNNA1 NAM|catenin (cadherin-associated protein), alpha 1, 102kDa SYN|CAP102 FNC|catenin (cadherin-associated protein), alpha 1, 102kDa |cell adhesion ; GO:0007155 CHR|5 PRD|catenin (cadherin-associated protein), alpha 1 (102kD) |catenin (cadherin-associated protein), alpha 1 (102kDa URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=254321 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1495[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141920 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001903 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001903 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=254321 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27008 DBL|UNIGENE:Hs.254321 |OMIM:116805 |SNP:1495 MAP|5q31 ENZ|structural molecule activity ; GO:0005198 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Catna1; score == 1625; expect == 0.0; MEOW:MGgn0001066 (97%) |species == rat; score == 1617; expect == 0.0; MEOW:ref|XP_226048.2| (97%) |species == Zfish; gene == ctnna; score == 1506; expect == 0.0; MEOW:ZFgn0000661 (88%) |species == Human; gene == CTNNA2; score == 1314; expect == 0.0; MEOW:HUgn0001496 (76%) |species == Mouse; gene == Catna2; score == 1301; expect == 0.0; MEOW:MGgn0001067 (75%) |species == Mosquito; score == 1003; expect == 0.0; MEOW:AGgn0000768 (60%) |species == Fruitfly; gene == &agr;-Cat; score == 994; expect == 0.0; MEOW:FBgn0010215 (59%) |species == Worm; gene == hmp-1; score == 587; expect == 1e-167; MEOW:CEgn0000920 (38%) } # EOR GENR { RETE|ID 1 HUgn0001496 CHR 1 2 DID 1 LocusLink:1496 MAP 1 2p12-p11.1 NAM 1 catenin (cadherin-associated protein), alpha 2 ORG 1 Homo sapiens SYM 1 CTNNA2 ID|HUgn0001496 DID|LocusLink:1496 ORG|Homo sapiens RSQ|REFSEQ:NM_004389 RPA|REFPROT:NP_004380 DBA|XM:NM_004389 |NA:AK127226 |NA:BC040458 |NA:BC052996 |NA:BX537769 |NA:M94151 |NA:none PAC|XP:NP_004380 SYM|CTNNA2 NAM|catenin (cadherin-associated protein), alpha 2 SYN|CAPR |CTNR |CAP-R FNC|catenin (cadherin-associated protein), alpha 2 |cell adhesion ; GO:0007155 CHR|2 PRD|Catenin, alpha-2 (cadherin-associated protein, related) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150917 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1496[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137725 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004389 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004389 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150917 DBL|UNIGENE:Hs.150917 |OMIM:114025 |SNP:1496 MAP|2p12-p11.1 ENZ|structural constituent of cytoskeleton ; GO:0005200 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Catna2; score == 1706; expect == 0.0; MEOW:MGgn0001067 (98%) |species == rat; score == 1337; expect == 0.0; MEOW:ref|XP_226048.2| (77%) |species == Zfish; gene == ctnna; score == 1323; expect == 0.0; MEOW:ZFgn0000661 (77%) |species == Human; gene == CTNNA1; score == 1314; expect == 0.0; MEOW:HUgn0001495 (76%) |species == Mosquito; score == 1055; expect == 0.0; MEOW:AGgn0000768 (60%) |species == Fruitfly; gene == &agr;-Cat; score == 1044; expect == 0.0; MEOW:FBgn0010215 (60%) |species == Worm; gene == hmp-1; score == 615; expect == 3e-176; MEOW:CEgn0000920 (37%) } # EOR GENR { RETE|ID 1 HUgn0001497 CHR 1 17 DID 1 LocusLink:1497 MAP 1 17p13 NAM 1 cystinosis, nephropathic ORG 1 Homo sapiens SYM 1 CTNS ID|HUgn0001497 DID|LocusLink:1497 ORG|Homo sapiens RSQ|REFSEQ:NM_004937 RPA|REFPROT:NP_004928 DBA|XM:NM_004937 |NA:Y15924 |NA:AJ222967 |NA:BC032850 |NA:none PAC|XP:NP_004928 SYM|CTNS NAM|cystinosis, nephropathic SYN|CTNS-LSB FNC|cystinosis, nephropathic |L-cystine transport ; GO:0015811 |transport ; GO:0006810 |amino acid metabolism ; GO:0006520 CHR|17 PRD|Cystinosis URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=187667 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1497[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:700761 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004937 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004937 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=187667 |http://www.geneclinics.org/query?mim=606272 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27019 DBL|UNIGENE:Hs.187667 |OMIM:606272 |SNP:1497 MAP|17p13 PHP|Cystinosis, atypical nephropathic |Cystinosis, late-onset juvenile or adolescent nephropathic |Cystinosis, nephropathic |Cystinosis, ocular nonnephropathic ENZ|L-cystine transporter activity ; GO:0015184 CEL|lysosomal membrane ; GO:0005765 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Ctns; score == 622; expect == 8e-179; MEOW:MGgn0028496 (83%) |species == rat; score == 607; expect == 3e-174; MEOW:ref|XP_220649.2| (81%) |species == Fruitfly; gene == CG17119; score == 282; expect == 2.3e-76; MEOW:FBgn0039045 (49%) |species == Mosquito; score == 280; expect == 9.0e-76; MEOW:AGgn0020402 (54%) |species == Mosquito; gene == LOC18133; score == 259; expect == 1.2e-69; MEOW:AGgn0018133 (49%) |species == Worm; gene == C41C4.7a; score == 253; expect == 1.0e-67; MEOW:CEgn0031783 (47%) |species == Worm; gene == C41C4.7b; score == 253; expect == 9.2e-68; MEOW:CEgn0031784 (47%) |species == Weed; gene == At5g40670; score == 209; expect == 1.5e-54; MEOW:ATgn0026577 (46%) |species == rice; score == 196; expect == 1.2e-50; MEOW:gnl|TIGR|8359.m01736 (43%) } # EOR GENR { RETE|ID 1 HUgn0001498 CHR 1 5 DID 1 LocusLink:1498 MAP 1 5q22 NAM 1 catenin (cadherin-associated protein), alpha pseudogene 1 ORG 1 Homo sapiens SYM 1 CTNNAP1 ID|HUgn0001498 DID|LocusLink:1498 CLA|Pseudogene ORG|Homo sapiens DBA|NA:Z37994 SYM|CTNNAP1 NAM|catenin (cadherin-associated protein), alpha pseudogene 1 CHR|5 MAP|5q22 DBL|SNP:1498 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:437169 } # EOR GENR { RETE|ID 1 HUgn0001499 CHR 1 3 DID 1 LocusLink:1499 MAP 1 3p21 NAM 1 catenin (cadherin-associated protein), beta 1, 88kDa ORG 1 Homo sapiens SYM 1 CTNNB1 ID|HUgn0001499 DID|LocusLink:1499 ORG|Homo sapiens RSQ|REFSEQ:NM_001904 RPA|REFPROT:NP_001895 DBA|XM:NM_001904 |NA:BC058926 |NA:X87838 |NA:Z19054 |NA:none PAC|XP:NP_001895 SYM|CTNNB1 NAM|catenin (cadherin-associated protein), beta 1, 88kDa SYN|CTNNB FNC|catenin (cadherin-associated protein), beta 1, 88kDa |transcription ; GO:0006350 |cell adhesion ; GO:0007155 |regulation of transcription from Pol II promoter ; GO:0006357 CHR|3 PRD|catenin (cadherin-associated protein), beta 1 (88kD) |catenin (cadherin-associated protein), beta 1 (88kDa URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410086 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1499[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141922 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001904 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001904 DBL|UNIGENE:Hs.410086 |OMIM:116806 |SNP:1499 MAP|3p21 PHP|Colorectal cancer |Hepatoblastoma |Hepatocellular carcinoma |Ovarian carcinoma, endometrioid type |Pilomatricoma ENZ|structural molecule activity ; GO:0005198 |signal transducer activity ; GO:0004871 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |plasma membrane ; GO:0005886 |nucleus ; GO:0005634 HG|species == Mouse; gene == Catnb; score == 1523; expect == 0.0; MEOW:MGgn0001068 (99%) |species == rat; score == 1523; expect == 0.0; MEOW:ref|NP_445809.1| (99%) |species == Zfish; gene == ctnnb; score == 1488; expect == 0.0; MEOW:ZFgn0000110 (97%) |species == Fruitfly; gene == arm; score == 1016; expect == 0.0; MEOW:FBgn0000117 (67%) |species == Mosquito; score == 972; expect == 0.0; MEOW:AGgn0016022 (69%) |species == Human; gene == JUP; score == 931; expect == 0.0; MEOW:HUgn0003728 (68%) |species == Worm; gene == hmp-2; score == 307; expect == 1.1e-83; MEOW:CEgn0000921 (34%) } # EOR GENR { RETE|ID 1 HUgn0001500 CHR 1 11 DID 1 LocusLink:1500 MAP 1 11q11 NAM 1 catenin (cadherin-associated protein), delta 1 ORG 1 Homo sapiens SYM 1 CTNND1 ID|HUgn0001500 DID|LocusLink:1500 ORG|Homo sapiens RSQ|REFSEQ:NM_001331 RPA|REFPROT:NP_001322 DBA|XM:NM_001331 |NA:AB002382 |NA:AF062317 |NA:AF062318 |NA:AF062319 |NA:AF062320 |NA:AF062321 |NA:AF062322 |NA:AF062323 |NA:AF062324 |NA:AF062325 |NA:AF062326 |NA:AF062327 |NA:AF062328 |NA:AF062329 |NA:AF062330 |NA:AF062331 |NA:AF062332 |NA:AF062333 |NA:AF062334 |NA:AF062335 |NA:AF062336 |NA:AF062337 |NA:AF062338 |NA:AF062339 |NA:AF062340 |NA:AF062341 |NA:AF062342 |NA:AF062343 |NA:AF062344 |NA:BC010501 |NA:BT007333 |NA:none PAC|XP:NP_001322 SYM|CTNND1 NAM|catenin (cadherin-associated protein), delta 1 SYN|CAS |CTNND |P120CAS |P120CTN |KIAA0384 FNC|catenin (cadherin-associated protein), delta 1 |cell-cell adhesion ; GO:0016337 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166011 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1500[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:636603 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001331 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001331 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=166011 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0384 DBL|UNIGENE:Hs.166011 |OMIM:601045 |SNP:1500 MAP|11q11 ENZ|structural molecule activity ; GO:0005198 |molecular_function unknown ; GO:0005554 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 |nucleus ; GO:0005634 HG|species == Mouse; gene == Catns; score == 1714; expect == 0.0; MEOW:MGgn0001069 (97%) |species == rat; score == 1627; expect == 0.0; MEOW:ref|XP_242062.2| (97%) |species == Human; gene == ARVCF; score == 707; expect == 0.0; MEOW:HUgn0000421 (46%) |species == Mosquito; gene == LOC15653; score == 377; expect == 9e-105; MEOW:AGgn0015653 (41%) |species == Fruitfly; gene == p120ctn; score == 375; expect == 3e-104; MEOW:FBgn0015587 (43%) |species == Worm; gene == jac-1; score == 281; expect == 1.1e-75; MEOW:CEgn0020146 (31%) |species == Zfish; gene == ctnnd2; score == 249; expect == 1.3e-66; MEOW:ZFgn0013428 (52%) } # EOR GENR { RETE|ID 1 HUgn0001501 CHR 1 5 DID 1 LocusLink:1501 MAP 1 5p15.2 NAM 1 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) ORG 1 Homo sapiens SYM 1 CTNND2 ID|HUgn0001501 DID|LocusLink:1501 ORG|Homo sapiens RSQ|REFSEQ:NM_001332 RPA|REFPROT:NP_001323 DBA|XM:NM_001332 |NA:AB013805 |NA:AF035302 |NA:AK127257 |NA:BF512945 |NA:U52351 |NA:U52828 |NA:U72665 |NA:U81004 |NA:U96136 |NA:none PAC|XP:NP_001323 SYM|CTNND2 NAM|catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) SYN|GT24 |NPRAP FNC|catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) |neuronal cell adhesion ; GO:0007158 |cell adhesion ; GO:0007155 |development ; GO:0007275 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436421 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1501[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6276675 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001332 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001332 DBL|UNIGENE:Hs.436421 |OMIM:604275 |SNP:1501 MAP|5p15.2 PHP|Mental retardation in cri-du-chat syndrome ENZ|structural molecule activity ; GO:0005198 |cell adhesion molecule activity ; GO:0005194 CEL|cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Catnd2; score == 2191; expect == 0.0; MEOW:MGgn0008408 (94%) |species == Human; gene == PKP4; score == 1000; expect == 0.0; MEOW:HUgn0008502 (47%) |species == rat; score == 969; expect == 0.0; MEOW:ref|XP_215733.2| (46%) |species == rat; score == 947; expect == 0.0; MEOW:ref|XP_342206.1| (74%) |species == Zfish; gene == ctnnd2; score == 524; expect == 2e-149; MEOW:ZFgn0013428 (86%) |species == Fruitfly; gene == p120ctn; score == 469; expect == 2e-132; MEOW:FBgn0015587 (50%) |species == Mosquito; gene == LOC15653; score == 464; expect == 6e-131; MEOW:AGgn0015653 (52%) |species == Worm; gene == jac-1; score == 319; expect == 4.9e-87; MEOW:CEgn0020146 (38%) } # EOR GENR { RETE|ID 1 HUgn0001502 DID 1 LocusLink:1502 NAM 1 catenin (cadherin-associated protein), gamma 80kDa ORG 1 Homo sapiens SYM 1 CTNNG ID|HUgn0001502 DID|LocusLink:1502 ORG|Homo sapiens SYM|CTNNG NAM|catenin (cadherin-associated protein), gamma 80kDa PRD|catenin (cadherin-associated protein), gamma (80kD) |catenin (cadherin-associated protein), gamma (80kDa URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:141926 } # EOR GENR { RETE|ID 1 HUgn0001503 CHR 1 1 DID 1 LocusLink:1503 MAP 1 1p34.1 NAM 1 CTP synthase ORG 1 Homo sapiens SYM 1 CTPS ID|HUgn0001503 DID|LocusLink:1503 ORG|Homo sapiens RSQ|REFSEQ:NM_001905 RPA|REFPROT:NP_001896 DBA|XM:NM_001905 |NA:AK130549 |NA:BC009408 |NA:X52142 |NA:none PAC|XP:NP_001896 SYM|CTPS NAM|CTP synthase FNC|CTP synthase |drug resistance ; GO:0009315 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |pyrimidine nucleotide biosynthesis ; GO:0006221 |glutamine metabolism ; GO:0006541 REAB|The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate |synthetase. The enzyme is important in the biosynthesis of phospholipids and nucleic |acids, and plays a key role in cell growth, development, and tumorigenesis. The |region to which the CTPS gene has been mapped is the location of breakpoints involved |in several tumor types CHR|1 PRD|Cytidine 5'-triphosphate synthetase |cytidine 5-prime triphosphate synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=251871 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1503[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126729 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001905 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001905 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=251871 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.251871 |OMIM:123860 |SNP:1503 ENZ|EC:6.3.4.2 |CTP synthase activity ; GO:0003883 |ligase activity ; GO:0016874 MAP|1p34.1 HG|species == rat; score == 1063; expect == 0.0; MEOW:ref|XP_233467.2| (97%) |species == Mouse; gene == Ctps; score == 1058; expect == 0.0; MEOW:MGgn0013902 (96%) |species == Human; gene == CTPS2; score == 834; expect == 0.0; MEOW:HUgn0056474 (74%) |species == Mosquito; gene == LOC10220; score == 682; expect == 0.0; MEOW:AGgn0010220 (63%) |species == Weed; gene == At2g34890; score == 610; expect == 5e-175; MEOW:ATgn0011401 (57%) |species == Yeast; gene == URA7; score == 610; expect == 5e-175; MEOW:SGgn0000135 (58%) |species == Weed; gene == At3g12670; score == 595; expect == 2e-170; MEOW:ATgn0016763 (59%) |species == rice; score == 593; expect == 2e-169; MEOW:gnl|TIGR|8350.m03964 (59%) |species == rice; score == 590; expect == 6e-169; MEOW:gnl|TIGR|8359.m03500 (57%) |species == Yeast; gene == URA8; score == 589; expect == 2e-168; MEOW:SGgn0003864 (56%) |species == Weed; gene == At1g30820; score == 587; expect == 5e-168; MEOW:ATgn0000327 (58%) |species == Weed; gene == At4g20320; score == 587; expect == 6e-168; MEOW:ATgn0017363 (58%) |species == Weed; gene == At4g02120; score == 584; expect == 4e-167; MEOW:ATgn0018499 (58%) |species == rice; score == 560; expect == 2e-159; MEOW:gnl|TIGR|8353.m04432 (56%) |species == rice; score == 549; expect == 1e-156; MEOW:gnl|TIGR|8353.m04402 (53%) |species == ecoli; score == 440; expect == 9e-124; MEOW:ref|NP_417260.1| (43%) } # EOR GENR { RETE|ID 1 HUgn0001504 CHR 1 16 DID 1 LocusLink:1504 MAP 1 16q23-q24.1 NAM 1 chymotrypsinogen B1 ORG 1 Homo sapiens SYM 1 CTRB1 ID|HUgn0001504 DID|LocusLink:1504 ORG|Homo sapiens RSQ|REFSEQ:NM_001906 RPA|REFPROT:NP_001897 DBA|XM:NM_001906 |NA:BC005385 |NA:BT007356 |NA:M24400 |NA:none PAC|XP:NP_001897 SYM|CTRB1 NAM|chymotrypsinogen B1 SYN|CTRB FNC|chymotrypsinogen B1 |proteolysis and peptidolysis ; GO:0006508 |digestion ; GO:0007586 REAB|Alpha-chymotrypsin (EC 3.4.21.1) is one of a family of serine proteases secreted |into the gastrointestinal tract as the inactive precursor chymotrypsinogen. The |zymogen is activated by proteolytic cleavage by trypsin (PRSS1; MIM 276000).[supplied |by OMIM] CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74502 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1504[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119820 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001906 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001906 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74502 DBL|UNIGENE:Hs.74502 |OMIM:118890 |SNP:1504 ENZ|EC:3.4.21.1 |trypsin activity ; GO:0004295 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|16q23-q24.1 CEL|extracellular ; GO:0005576 HG|species == Human; gene == LOC339102; score == 537; expect == 3e-153; MEOW:HUgn0339102 (98%) |species == rat; score == 480; expect == 4e-136; MEOW:ref|NP_036668.1| (84%) |species == Mouse; gene == 2200008D09Rik; score == 479; expect == 5e-136; MEOW:MGgn0019192 (84%) |species == Fruitfly; gene == CG31728; score == 169; expect == 3.2e-42; MEOW:FBgn0051728 (37%) |species == Fruitfly; gene == Sb; score == 168; expect == 1.4e-42; MEOW:FBgn0003319 (37%) |species == Mosquito; gene == LOC22018; score == 166; expect == 6.8e-42; MEOW:AGgn0022018 (37%) |species == Mosquito; gene == LOC21851; score == 160; expect == 4.9e-40; MEOW:AGgn0021851 (38%) |species == Fruitfly; gene == CG11824; score == 159; expect == 1.1e-39; MEOW:FBgn0033360 (36%) |species == Mosquito; gene == LOC16743; score == 158; expect == 1.8e-39; MEOW:AGgn0016743 (36%) |species == Mosquito; gene == LOC17112; score == 157; expect == 2.4e-39; MEOW:AGgn0017112 (34%) |species == Mosquito; score == 156; expect == 9.2e-39; MEOW:AGgn0028900 (36%) |species == Mosquito; score == 155; expect == 1.6e-38; MEOW:AGgn0025294 (38%) |species == Fruitfly; gene == mas; score == 153; expect == 4.4e-37; MEOW:FBgn0011653 (35%) |species == Fruitfly; gene == CG8172; score == 153; expect == 6.1e-38; MEOW:FBgn0033362 (37%) |species == Mosquito; gene == LOC14938; score == 151; expect == 1.7e-37; MEOW:AGgn0014938 (35%) |species == Fruitfly; gene == CG11836; score == 151; expect == 2.3e-37; MEOW:FBgn0039272 (40%) |species == Mosquito; gene == LOC4000; score == 149; expect == 1.1e-36; MEOW:AGgn0004000 (40%) |species == Mosquito; gene == LOC17160; score == 149; expect == 1.1e-36; MEOW:AGgn0017160 (36%) |species == Mosquito; score == 148; expect == 1.9e-36; MEOW:AGgn0025376 (36%) |species == Fruitfly; gene == CG8213; score == 148; expect == 2.0e-36; MEOW:FBgn0033359 (36%) |species == Zfish; gene == mst1; score == 146; expect == 4.5e-35; MEOW:ZFgn0002616 (33%) |species == Mosquito; gene == LOC21092; score == 144; expect == 6.2e-35; MEOW:AGgn0021092 (38%) |species == Worm; gene == C07G1.1; score == 144; expect == 2.6e-35; MEOW:CEgn0004322 (31%) |species == Fruitfly; gene == CG30025; score == 144; expect == 3.7e-35; MEOW:FBgn0050025 (38%) |species == Fruitfly; gene == CG31954; score == 144; expect == 3.7e-35; MEOW:FBgn0051954 (35%) |species == Fruitfly; gene == Try29F; score == 143; expect == 1.1e-34; MEOW:FBgn0015316 (37%) |species == chimp; score == 141; expect == 8.3e-36; MEOW:sp|Q95ND7|Q95ND7 (35%) |species == Mosquito; score == 137; expect == 4.2e-33; MEOW:AGgn0028854 (37%) |species == Fruitfly; gene == CG13318; score == 136; expect == 1.8e-32; MEOW:FBgn0037627 (34%) |species == Zfish; gene == f7; score == 134; expect == 3.6e-33; MEOW:ZFgn0002317 (35%) |species == chimp; score == 130; expect == 1.5e-32; MEOW:sp|Q95ND6|Q95ND6 (33%) } # EOR GENR { RETE|ID 1 HUgn0001505 DID 1 LocusLink:1505 NAM 1 chymotrypsinogen B2 ORG 1 Homo sapiens SYM 1 CTRB2 ID|HUgn0001505 DID|LocusLink:1505 ORG|Homo sapiens SYM|CTRB2 NAM|chymotrypsinogen B2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136273 } # EOR GENR { RETE|ID 1 HUgn0001506 CHR 1 16 DID 1 LocusLink:1506 MAP 1 16q22.1 NAM 1 chymotrypsin-like ORG 1 Homo sapiens SYM 1 CTRL ID|HUgn0001506 DID|LocusLink:1506 ORG|Homo sapiens RSQ|REFSEQ:NM_001907 RPA|REFPROT:NP_001898 DBA|XM:NM_001907 |NA:AK090445 |NA:BC039716 |NA:X71877 PAC|XP:NP_001898 SYM|CTRL NAM|chymotrypsin-like SYN|CTRL1 FNC|chymotrypsin-like |proteolysis and peptidolysis ; GO:0006508 |digestion ; GO:0007586 CHR|16 PRD|chymotrypsin-like protease URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405774 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1506[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:204061 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001907 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001907 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=405774 DBL|UNIGENE:Hs.405774 |OMIM:118888 |SNP:1506 ENZ|EC:3.4.21.- MAP|16q22.1 PHP|Chymotrypsin-like serine protease; hydrolyzes amide bonds where Tyr, Phe, or Leu is at the P1 position CEL|extracellular space ; GO:0005615 HG|species == rat; score == 434; expect == 2e-122; MEOW:ref|NP_446461.1| (86%) |species == Mouse; gene == Ctrl; score == 433; expect == 3e-122; MEOW:MGgn0001747 (85%) |species == Human; gene == LOC339102; score == 310; expect == 5.1e-85; MEOW:HUgn0339102 (54%) |species == Human; gene == CTRB1; score == 308; expect == 2.5e-84; MEOW:HUgn0001504 (54%) |species == Mosquito; score == 169; expect == 1.3e-42; MEOW:AGgn0028900 (39%) |species == Fruitfly; gene == CG11824; score == 169; expect == 9.9e-43; MEOW:FBgn0033360 (39%) |species == Mosquito; gene == LOC21851; score == 166; expect == 2.6e-41; MEOW:AGgn0021851 (40%) |species == Mosquito; gene == LOC16743; score == 159; expect == 4.6e-39; MEOW:AGgn0016743 (37%) |species == Mosquito; gene == LOC12216; score == 156; expect == 8.6e-39; MEOW:AGgn0012216 (39%) |species == Fruitfly; gene == mas; score == 153; expect == 4.4e-37; MEOW:FBgn0011653 (36%) |species == Fruitfly; gene == CG7542; score == 153; expect == 8.3e-38; MEOW:FBgn0036738 (34%) |species == Fruitfly; gene == CG31728; score == 149; expect == 2.6e-36; MEOW:FBgn0051728 (37%) |species == Fruitfly; gene == Sb; score == 148; expect == 1.3e-35; MEOW:FBgn0003319 (37%) |species == Mosquito; gene == LOC22018; score == 147; expect == 4.2e-36; MEOW:AGgn0022018 (39%) |species == Mosquito; gene == LOC13184; score == 141; expect == 4.3e-34; MEOW:AGgn0013184 (36%) |species == Fruitfly; gene == CG6467; score == 141; expect == 4.5e-34; MEOW:FBgn0035664 (38%) |species == Fruitfly; gene == CG40160; score == 139; expect == 3.9e-33; MEOW:FBgn0058160 (34%) |species == Mosquito; score == 137; expect == 5.4e-33; MEOW:AGgn0002644 (33%) |species == Mosquito; gene == LOC25075; score == 137; expect == 6.0e-33; MEOW:AGgn0025075 (33%) |species == Mosquito; score == 136; expect == 3.7e-32; MEOW:AGgn0007321 (34%) |species == Mosquito; score == 136; expect == 5.8e-33; MEOW:AGgn0012201 (40%) |species == Mosquito; score == 136; expect == 1.5e-32; MEOW:AGgn0028665 (34%) |species == Fruitfly; gene == CG11836; score == 136; expect == 1.0e-32; MEOW:FBgn0039272 (39%) |species == Zfish; gene == mst1; score == 135; expect == 8.0e-32; MEOW:ZFgn0002616 (32%) } # EOR GENR { RETE|ID 1 HUgn0001507 DID 1 LocusLink:1507 NAM 1 carpal tunnel syndrome 1 ORG 1 Homo sapiens SYM 1 CTS1 ID|HUgn0001507 DID|LocusLink:1507 ORG|Homo sapiens SYM|CTS1 NAM|carpal tunnel syndrome 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118779 } # EOR GENR { RETE|ID 1 HUgn0001508 CHR 1 8 DID 1 LocusLink:1508 MAP 1 8p22 NAM 1 cathepsin B ORG 1 Homo sapiens SYM 1 CTSB ID|HUgn0001508 DID|LocusLink:1508 ORG|Homo sapiens RSQ|REFSEQ:NM_001908 |REFSEQ:NM_147780 |REFSEQ:NM_147781 |REFSEQ:NM_147782 |REFSEQ:NM_147783 RPA|REFPROT:NP_001899 |REFPROT:NP_680090 |REFPROT:NP_680091 |REFPROT:NP_680092 |REFPROT:NP_680093 DBA|XM:NM_001908 |XM:NM_147780 |XM:NM_147781 |XM:NM_147782 |XM:NM_147783 |NA:AK075393 |NA:AK092070 |NA:AK097384 |NA:AK130184 |NA:BC008639 |NA:BC010240 |NA:BM008741 |NA:BX647765 |NA:BX647952 |NA:BX648239 |NA:L16510 |NA:M13230 |NA:M14221 |NA:Y18460 |NA:none PAC|XP:NP_001899 |XP:NP_680090 |XP:NP_680091 |XP:NP_680092 |XP:NP_680093 SYM|CTSB NAM|cathepsin B SYN|APPS |CPSB FNC|cathepsin B preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal cysteine proteinase composed of a |dimer of disulfide-linked heavy and light chains, both produced from a single protein |precursor. It is also known as amyloid precursor protein secretase and is involved |in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic |processing of APP has been suggested to be a causative factor in Alzheimer disease, |the most common cause of dementia. Overexpression of the encoded protein, which |is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma |and other tumors. At least five transcript variants encoding the same protein have |been found for this gene. CHR|8 PRD|cathepsin B1 |APP secretase |preprocathepsin B |amyloid precursor protein secretase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=135226 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1508[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119087 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_147780 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_147780 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=135226 DBL|UNIGENE:Hs.135226 |OMIM:116810 |SNP:1508 ENZ|EC:3.4.22.1 |cathepsin B activity ; GO:0004213 |hydrolase activity ; GO:0016787 MAP|8p22 CEL|lysosome ; GO:0005764 |intracellular ; GO:0005622 HG|species == rat; score == 613; expect == 5e-176; MEOW:ref|XP_346478.1| (79%) |species == Mouse; gene == Ctsb; score == 607; expect == 2e-174; MEOW:MGgn0001750 (79%) |species == Mosquito; score == 412; expect == 1e-115; MEOW:AGgn0003981 (59%) |species == Fruitfly; gene == CG10992; score == 402; expect == 1e-112; MEOW:FBgn0030521 (58%) |species == Worm; gene == F57F5.1; score == 349; expect == 1.3e-96; MEOW:CEgn0012251 (51%) |species == Worm; gene == cpr-5; score == 332; expect == 1.6e-91; MEOW:CEgn0000291 (47%) |species == Worm; gene == cpr-4; score == 323; expect == 5.8e-89; MEOW:CEgn0000290 (47%) |species == Worm; gene == cpr-6; score == 322; expect == 1.7e-88; MEOW:CEgn0000292 (48%) |species == Worm; gene == W07B8.4; score == 322; expect == 1.7e-88; MEOW:CEgn0017721 (49%) |species == Weed; gene == At1g02305; score == 295; expect == 3.2e-80; MEOW:ATgn0027114 (48%) |species == rice; score == 293; expect == 2.6e-79; MEOW:gnl|TIGR|8353.m02062 (46%) |species == Weed; gene == At4g01610; score == 292; expect == 2.7e-79; MEOW:ATgn0017528 (47%) |species == Weed; gene == At1g02300; score == 263; expect == 7.9e-71; MEOW:ATgn0003348 (42%) |species == Human; gene == LCN7; score == 159; expect == 2.7e-39; MEOW:HUgn0064129 (32%) |species == Human; gene == TINAG; score == 138; expect == 3.8e-33; MEOW:HUgn0027283 (28%) |species == Human; gene == CTSC; score == 131; expect == 6.1e-31; MEOW:HUgn0001075 (33%) } # EOR GENR { RETE|ID 1 HUgn0001509 CHR 1 11 DID 1 LocusLink:1509 MAP 1 11p15.5 NAM 1 cathepsin D (lysosomal aspartyl protease) ORG 1 Homo sapiens SYM 1 CTSD ID|HUgn0001509 DID|LocusLink:1509 ORG|Homo sapiens RSQ|REFSEQ:NM_001909 RPA|REFPROT:NP_001900 DBA|XM:NM_001909 |NA:M63138 |NA:AK130178 |NA:BC001574 |NA:BC016320 |NA:BC036199 |NA:BM762986 |NA:BT006910 |NA:M11233 |NA:X05344 |NA:none |NA:AK093885 PAC|XP:NP_001900 SYM|CTSD NAM|cathepsin D (lysosomal aspartyl protease) SYN|CPSD |MGC2311 FNC|cathepsin D preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal aspartyl protease composed of a dimer |of disulfide-linked heavy and light chains, both produced from a single protein |precursor. This proteinase, which is a member of the peptidase C1 family, has a |specificity similar to but narrower than that of pepsin A. Transcription of this |gene is initiated from several sites, including one which is a start site for an |estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis |of several diseases, including breast cancer and possibly Alzheimer disease. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=343475 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1509[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120512 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001909 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001909 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=343475 DBL|UNIGENE:Hs.343475 |OMIM:116840 |SNP:1509 |UWCM:120512.html ENZ|EC:3.4.23.5 |cathepsin D activity ; GO:0004192 |pepsin A activity ; GO:0004194 |hydrolase activity ; GO:0016787 MAP|11p15.5 CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Ctsd; score == 655; expect == 0.0; MEOW:MGgn0001753 (83%) |species == rat; score == 652; expect == 0.0; MEOW:ref|NP_599161.1| (83%) |species == Zfish; gene == ctsd; score == 518; expect == 9e-149; MEOW:ZFgn0002031 (66%) |species == Mosquito; gene == LOC13568; score == 440; expect == 6e-124; MEOW:AGgn0013568 (55%) |species == Worm; gene == asp-4; score == 414; expect == 4e-116; MEOW:CEgn0014904 (58%) |species == Fruitfly; gene == cathD; score == 402; expect == 2e-112; MEOW:FBgn0029093 (53%) |species == Human; gene == NAP1; score == 383; expect == 9e-107; MEOW:HUgn0009476 (47%) |species == Human; gene == CTSE; score == 359; expect == 1.7e-99; MEOW:HUgn0001510 (51%) |species == Fruitfly; gene == CG10104; score == 342; expect == 2.8e-94; MEOW:FBgn0033933 (43%) |species == Human; gene == PGA5; score == 331; expect == 3.7e-91; MEOW:HUgn0005222 (44%) |species == Human; gene == REN; score == 328; expect == 2.5e-90; MEOW:HUgn0005972 (42%) |species == chimp; score == 328; expect == 2.5e-90; MEOW:sp|AAG30305|AAG30305 (42%) |species == Fruitfly; gene == CG17134; score == 324; expect == 5.9e-89; MEOW:FBgn0032304 (44%) |species == Yeast; gene == PEP4; score == 288; expect == 2.9e-78; MEOW:SGgn0006075 (43%) |species == Weed; gene == At4g04460; score == 252; expect == 3.0e-67; MEOW:ATgn0020546 (49%) |species == rice; score == 252; expect == 3.6e-67; MEOW:gnl|TIGR|8350.m01720 (44%) |species == rice; score == 250; expect == 1.2e-66; MEOW:gnl|TIGR|8353.m04370 (48%) |species == rice; score == 243; expect == 2.7e-64; MEOW:gnl|TIGR|8350.m04074 (51%) |species == Weed; gene == At1g11910; score == 242; expect == 3.2e-64; MEOW:ATgn0007017 (50%) |species == rice; score == 240; expect == 1.5e-63; MEOW:gnl|TIGR|8353.m00366 (45%) |species == Weed; gene == At1g62290; score == 234; expect == 6.6e-62; MEOW:ATgn0006537 (50%) } # EOR GENR { RETE|ID 1 HUgn0001510 CHR 1 1 DID 1 LocusLink:1510 MAP 1 1q31 NAM 1 cathepsin E ORG 1 Homo sapiens SYM 1 CTSE ID|HUgn0001510 DID|LocusLink:1510 ORG|Homo sapiens RSQ|REFSEQ:NM_001910 |REFSEQ:NM_148964 RPA|REFPROT:NP_001901 |REFPROT:NP_683865 DBA|NA:M84424 |NA:AJ250716 |NA:AJ250717 |NA:AU100136 |NA:BC042537 |NA:J05036 SYM|CTSE NAM|cathepsin E FNC|cathepsin E isoform a preproprotein |cathepsin E isoform b preproprotein |proteolysis and peptidolysis ; GO:0006508 |digestion ; GO:0007586 REAB|The protein encoded by this gene is a gastric aspartyl protease that functions as |a disulfide-linked homodimer. This protease, which is a member of the peptidase |C1 family, has a specificity similar to that of pepsin A and cathepsin D. It is |an intracellular proteinase that does not appear to be involved in the digestion |of dietary protein and is found in highest concentration in the surface of epithelial |mucus-producing cells of the stomach. It is the first aspartic proteinase expressed |in the fetal stomach and is found in more than half of gastric cancers. It appears, |therefore, to be an oncofetal antigen. Transcript variants utilizing alternative |polyadenylation signals and two transcript variants encoding different isoforms |exist for this gene. CHR|1 PRD|cathepsin E precursor |slow-moving proteinase |erythrocyte membrane aspartic proteinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1355 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119821 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001910 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001910 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1355 DBL|UNIGENE:Hs.1355 |OMIM:116890 |SNP:1510 ENZ|EC:3.4.23.34 MAP|1q31 HG|species == Mouse; gene == Ctse; score == 657; expect == 0.0; MEOW:MGgn0001754 (83%) |species == rat; score == 597; expect == 3e-171; MEOW:ref|NP_037070.1| (77%) |species == Human; gene == PGA5; score == 406; expect == 1e-113; MEOW:HUgn0005222 (53%) |species == Zfish; gene == nots; score == 383; expect == 1e-106; MEOW:ZFgn0002167 (48%) |species == Human; gene == CTSD; score == 359; expect == 1.7e-99; MEOW:HUgn0001509 (51%) |species == Zfish; gene == ctsd; score == 359; expect == 9e-101; MEOW:ZFgn0002031 (48%) |species == Mosquito; gene == LOC13568; score == 351; expect == 2.6e-97; MEOW:AGgn0013568 (51%) |species == Human; gene == PGC; score == 348; expect == 3.0e-96; MEOW:HUgn0005225 (46%) |species == Worm; gene == asp-4; score == 335; expect == 2.3e-92; MEOW:CEgn0014904 (45%) |species == Fruitfly; gene == cathD; score == 333; expect == 7.6e-92; MEOW:FBgn0029093 (49%) |species == Human; gene == NAP1; score == 326; expect == 1.2e-89; MEOW:HUgn0009476 (48%) |species == Fruitfly; gene == CG13095; score == 306; expect == 9.9e-84; MEOW:FBgn0032049 (45%) |species == Fruitfly; gene == CG17134; score == 305; expect == 2.8e-83; MEOW:FBgn0032304 (42%) |species == Fruitfly; gene == CG33128; score == 303; expect == 8.6e-83; MEOW:FBgn0053128 (40%) |species == Fruitfly; gene == CG10104; score == 292; expect == 1.9e-79; MEOW:FBgn0033933 (39%) |species == Fruitfly; gene == pcl; score == 291; expect == 4.5e-79; MEOW:FBgn0011822 (43%) |species == chimp; score == 287; expect == 1.2e-79; MEOW:sp|AAG30305|AAG30305 (37%) |species == Fruitfly; gene == CG5863; score == 285; expect == 1.4e-77; MEOW:FBgn0038507 (42%) |species == Yeast; gene == PEP4; score == 280; expect == 2.2e-76; MEOW:SGgn0006075 (44%) |species == Fruitfly; gene == CG6508; score == 274; expect == 4.2e-74; MEOW:FBgn0032303 (40%) |species == Weed; gene == At4g04460; score == 250; expect == 1.1e-66; MEOW:ATgn0020546 (51%) |species == rice; score == 248; expect == 1.2e-65; MEOW:gnl|TIGR|8350.m01720 (49%) |species == Weed; gene == At1g62290; score == 243; expect == 1.0e-64; MEOW:ATgn0006537 (48%) |species == Weed; gene == At1g11910; score == 243; expect == 1.0e-64; MEOW:ATgn0007017 (49%) |species == rice; score == 243; expect == 1.8e-64; MEOW:gnl|TIGR|8353.m04370 (49%) |species == rice; score == 236; expect == 4.7e-62; MEOW:gnl|TIGR|8353.m00366 (45%) |species == rice; score == 227; expect == 1.7e-59; MEOW:gnl|TIGR|8350.m04074 (44%) } # EOR GENR { RETE|ID 1 HUgn0001511 CHR 1 14 DID 1 LocusLink:1511 MAP 1 14q11.2 NAM 1 cathepsin G ORG 1 Homo sapiens SYM 1 CTSG ID|HUgn0001511 DID|LocusLink:1511 ORG|Homo sapiens RSQ|REFSEQ:NM_001911 RPA|REFPROT:NP_001902 DBA|XM:NM_001911 |NA:J04990 |NA:AI272833 |NA:BC014460 |NA:M16117 |NA:none PAC|XP:NP_001902 SYM|CTSG NAM|cathepsin G SYN|CG |MGC23078 FNC|cathepsin G preproprotein |proteolysis and peptidolysis ; GO:0006508 |immune response ; GO:0006955 REAB|The protein encoded by this gene, a member of the peptidase S1 protein family, is |found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded |protease has a specificity similar to that of chymotrypsin C, and may participate |in the killing and digestion of engulfed pathogens, and in connective tissue remodeling |at sites of inflammation. Transcript variants utilizing alternative polyadenylation |signals exist for this gene. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421724 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1511[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119822 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001911 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001911 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421724 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27032 DBL|UNIGENE:Hs.421724 |OMIM:116830 |SNP:1511 ENZ|EC:3.4.21.20 |trypsin activity ; GO:0004295 |cathepsin G activity ; GO:0004261 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|14q11.2 CEL|insoluble fraction ; GO:0005626 HG|species == Mouse; gene == Ctsg; score == 337; expect == 5.0e-93; MEOW:MGgn0001755 (70%) |species == rat; score == 334; expect == 4.0e-92; MEOW:ref|XP_214205.2| (70%) |species == Human; gene == GZMB; score == 276; expect == 5.7e-75; MEOW:HUgn0003002 (57%) |species == Human; gene == GZMH; score == 268; expect == 2.6e-72; MEOW:HUgn0002999 (56%) |species == Human; gene == CMA1; score == 241; expect == 2.6e-64; MEOW:HUgn0001215 (52%) } # EOR GENR { RETE|ID 1 HUgn0001512 CHR 1 15 DID 1 LocusLink:1512 MAP 1 15q24-q25 NAM 1 cathepsin H ORG 1 Homo sapiens SYM 1 CTSH ID|HUgn0001512 DID|LocusLink:1512 ORG|Homo sapiens RSQ|REFSEQ:NM_004390 |REFSEQ:NM_148979 RPA|REFPROT:NP_004381 |REFPROT:NP_683880 DBA|XM:NM_004390 |XM:NM_148979 |NA:AF426247 |NA:AF426248 |NA:AK026152 |NA:AK130158 |NA:AL110099 |NA:BC002479 |NA:BC018821 |NA:BG775606 |NA:D28436 |NA:X07549 |NA:X16832 |NA:Y18461 |NA:none PAC|XP:NP_004381 |XP:NP_683880 SYM|CTSH NAM|cathepsin H SYN|CPSB |MGC1519 FNC|cathepsin H isoform a preproprotein |cathepsin H isoform b precursor |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal cysteine proteinase important in |the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked |heavy and light chains, both produced from a single protein precursor. The encoded |protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase |and as an endopeptidase. Increased expression of this gene has been correlated with |malignant progression of prostate tumors. Two transcript variants encoding different |isoforms have been found for this gene. CHR|15 PRD|aleurain |cathepsin B3 |cathepsin BA |N-benzoylarginine-beta-naphthylamide hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=114931 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1512[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120602 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004390 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004390 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=114931 DBL|UNIGENE:Hs.114931 |OMIM:116820 |SNP:1512 ENZ|EC:3.4.22.16 |cathepsin H activity ; GO:0004215 |hydrolase activity ; GO:0016787 MAP|15q24-q25 CEL|lysosome ; GO:0005764 HG|species == rat; score == 598; expect == 1e-171; MEOW:ref|NP_037071.1| (82%) |species == Mouse; gene == Ctsh; score == 594; expect == 2e-170; MEOW:MGgn0001756 (82%) |species == Weed; gene == At3g45310; score == 311; expect == 4.2e-85; MEOW:ATgn0012522 (52%) |species == Weed; gene == At5g60360; score == 298; expect == 2.2e-81; MEOW:ATgn0026751 (51%) |species == rice; score == 278; expect == 3.0e-75; MEOW:gnl|TIGR|8357.m02332 (43%) |species == Zfish; gene == hgg1; score == 232; expect == 1.0e-62; MEOW:ZFgn0000078 (41%) |species == Human; gene == CTSL; score == 229; expect == 2.1e-60; MEOW:HUgn0001514 (38%) |species == Human; gene == CTSL2; score == 229; expect == 2.1e-60; MEOW:HUgn0001515 (40%) |species == Human; gene == CTSK; score == 227; expect == 6.0e-60; MEOW:HUgn0001513 (41%) |species == Mosquito; score == 216; expect == 1.0e-56; MEOW:AGgn0020002 (38%) |species == Fruitfly; gene == Cp1; score == 212; expect == 1.6e-55; MEOW:FBgn0013770 (38%) |species == Human; gene == LOC375899; score == 210; expect == 7.7e-55; MEOW:HUgn0375899 (37%) |species == Worm; gene == cpl-1; score == 209; expect == 1.2e-54; MEOW:CEgn0015282 (40%) |species == Human; gene == LOC118945; score == 206; expect == 1.1e-53; MEOW:HUgn0118945 (37%) |species == Human; gene == CTSS; score == 203; expect == 1.6e-52; MEOW:HUgn0001520 (38%) |species == Fruitfly; gene == CG4847; score == 199; expect == 1.8e-51; MEOW:FBgn0034229 (38%) |species == Fruitfly; gene == 26-29kD-proteinase; score == 197; expect == 1.3e-50; MEOW:FBgn0028967 (35%) |species == Mosquito; gene == LOC13730; score == 196; expect == 2.1e-50; MEOW:AGgn0013730 (35%) |species == Worm; gene == F41E6.6; score == 195; expect == 1.8e-50; MEOW:CEgn0010588 (37%) |species == Human; gene == LOC340736; score == 194; expect == 4.3e-50; MEOW:HUgn0340736 (36%) |species == Fruitfly; gene == CG5367; score == 187; expect == 4.1e-48; MEOW:FBgn0032228 (34%) |species == Fruitfly; gene == CG6347; score == 186; expect == 1.7e-47; MEOW:FBgn0033874 (33%) |species == Human; gene == CTSF; score == 184; expect == 5.9e-47; MEOW:HUgn0008722 (37%) |species == Worm; gene == R09F10.1; score == 182; expect == 2.0e-46; MEOW:CEgn0014721 (35%) } # EOR GENR { RETE|ID 1 HUgn0001513 CHR 1 1 DID 1 LocusLink:1513 MAP 1 1q21 NAM 1 cathepsin K (pycnodysostosis) ORG 1 Homo sapiens SYM 1 CTSK ID|HUgn0001513 DID|LocusLink:1513 ORG|Homo sapiens RSQ|REFSEQ:NM_000396 RPA|REFPROT:NP_000387 DBA|XM:NM_000396 |NA:AK130134 |NA:AU118043 |NA:BC016058 |NA:S79895 |NA:U13665 |NA:U20280 |NA:none PAC|XP:NP_000387 SYM|CTSK NAM|cathepsin K (pycnodysostosis) SYN|PKND |CTS02 |CTSO1 |CTSO2 |MGC23107 FNC|cathepsin K preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone |remodeling and resorption. This protein, which is a member of the peptidase C1 protein |family, is predominantly expressed in osteoclasts. However, the encoded protein |is also expressed in a significant fraction of human breast cancers, where it could |contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, |an autosomal recessive disease characterized by osteosclerosis and short stature. |This gene may be subject to RNA editing. CHR|1 PRD|cathepsin X |cathepsin O1 |cathepsin O2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83942 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1513[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:453910 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000396 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000396 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83942 |http://www.geneclinics.org/query?mim=601105 DBL|UNIGENE:Hs.83942 |OMIM:601105 |SNP:1513 |UWCM:453910.html ENZ|EC:3.4.22.38 |cathepsin K activity ; GO:0004216 |hydrolase activity ; GO:0016787 MAP|1q21 PHP|Pycnodysostosis CEL|lysosome ; GO:0005764 HG|species == rat; score == 607; expect == 4e-174; MEOW:ref|NP_113748.1| (87%) |species == Mouse; gene == Ctsk; score == 602; expect == 5e-173; MEOW:MGgn0001759 (86%) |species == Human; gene == CTSS; score == 369; expect == 1e-102; MEOW:HUgn0001520 (56%) |species == Zfish; gene == hgg1; score == 350; expect == 2.5e-98; MEOW:ZFgn0000078 (52%) |species == Human; gene == CTSL; score == 333; expect == 1.0e-91; MEOW:HUgn0001514 (50%) |species == Human; gene == CTSL2; score == 333; expect == 7.7e-92; MEOW:HUgn0001515 (51%) |species == Human; gene == LOC375899; score == 317; expect == 4.4e-87; MEOW:HUgn0375899 (48%) |species == Human; gene == LOC118945; score == 312; expect == 1.8e-85; MEOW:HUgn0118945 (48%) |species == Mosquito; score == 304; expect == 2.8e-83; MEOW:AGgn0020002 (47%) |species == Human; gene == LOC340736; score == 300; expect == 9.4e-82; MEOW:HUgn0340736 (48%) |species == Fruitfly; gene == Cp1; score == 293; expect == 4.0e-80; MEOW:FBgn0013770 (46%) |species == Worm; gene == cpl-1; score == 289; expect == 1.3e-78; MEOW:CEgn0015282 (46%) |species == Weed; gene == At3g19390; score == 240; expect == 8.9e-64; MEOW:ATgn0012214 (40%) |species == Weed; gene == At1g29090; score == 238; expect == 3.4e-63; MEOW:ATgn0004388 (43%) |species == Weed; gene == At3g49340; score == 236; expect == 1.7e-62; MEOW:ATgn0015051 (40%) |species == Weed; gene == At1g47128; score == 233; expect == 1.1e-61; MEOW:ATgn0026973 (41%) |species == Weed; gene == At1g29080; score == 231; expect == 4.2e-61; MEOW:ATgn0004386 (42%) |species == Weed; gene == At2g34080; score == 231; expect == 4.2e-61; MEOW:ATgn0010959 (43%) |species == Weed; gene == At5g43060; score == 231; expect == 5.4e-61; MEOW:ATgn0022882 (42%) |species == Weed; gene == At5g45890; score == 231; expect == 5.4e-61; MEOW:ATgn0025177 (41%) |species == rice; score == 231; expect == 1.2e-60; MEOW:gnl|TIGR|8350.m06951 (42%) |species == rice; score == 230; expect == 1.1e-60; MEOW:gnl|TIGR|8352.m05370 (43%) |species == rice; score == 229; expect == 1.8e-60; MEOW:gnl|TIGR|8353.m00082 (41%) |species == Weed; gene == At1g20850; score == 228; expect == 5.1e-60; MEOW:ATgn0003692 (42%) |species == Weed; gene == At2g27420; score == 228; expect == 3.5e-60; MEOW:ATgn0010423 (39%) |species == Weed; gene == At4g35350; score == 228; expect == 3.5e-60; MEOW:ATgn0019990 (41%) |species == rice; score == 227; expect == 1.3e-59; MEOW:gnl|TIGR|8353.m03820 (41%) |species == rice; score == 226; expect == 2.2e-59; MEOW:gnl|TIGR|8352.m01111 (41%) |species == Weed; gene == At1g06260; score == 223; expect == 1.6e-58; MEOW:ATgn0000265 (40%) |species == rice; score == 223; expect == 3.2e-58; MEOW:gnl|TIGR|8352.m05375 (41%) |species == rice; score == 222; expect == 5.5e-58; MEOW:gnl|TIGR|8360.m04864 (41%) |species == rice; score == 221; expect == 5.7e-58; MEOW:gnl|TIGR|8352.m05191 (35%) |species == rice; score == 221; expect == 9.3e-58; MEOW:gnl|TIGR|8357.m02753 (38%) |species == Weed; gene == At5g60360; score == 220; expect == 1.1e-57; MEOW:ATgn0026751 (41%) |species == Weed; gene == At4g23520; score == 219; expect == 1.4e-57; MEOW:ATgn0017973 (39%) |species == Weed; gene == At4g36880; score == 219; expect == 1.5e-57; MEOW:ATgn0018307 (40%) |species == Weed; gene == At5g50260; score == 216; expect == 1.6e-56; MEOW:ATgn0023671 (42%) |species == Weed; gene == At1g09850; score == 215; expect == 3.4e-56; MEOW:ATgn0003953 (41%) |species == rice; score == 215; expect == 2.4e-56; MEOW:gnl|TIGR|8352.m01090 (38%) |species == rice; score == 215; expect == 2.4e-56; MEOW:gnl|TIGR|8352.m01106 (39%) |species == rice; score == 215; expect == 5.1e-56; MEOW:gnl|TIGR|8356.m04318 (41%) |species == Weed; gene == At3g48350; score == 214; expect == 7.8e-56; MEOW:ATgn0028518 (40%) |species == rice; score == 213; expect == 1.7e-55; MEOW:gnl|TIGR|8359.m01677 (41%) |species == Weed; gene == At3g45310; score == 210; expect == 8.4e-55; MEOW:ATgn0012522 (39%) |species == rice; score == 210; expect == 1.1e-54; MEOW:gnl|TIGR|8351.m04613 (40%) |species == Weed; gene == At3g48340; score == 208; expect == 4.1e-54; MEOW:ATgn0028517 (40%) |species == Weed; gene == At3g19400; score == 202; expect == 3.0e-52; MEOW:ATgn0012216 (40%) |species == rice; score == 196; expect == 1.6e-50; MEOW:gnl|TIGR|8350.m02265 (38%) |species == rice; score == 195; expect == 3.2e-50; MEOW:gnl|TIGR|8350.m02266 (38%) |species == rice; score == 195; expect == 3.9e-50; MEOW:gnl|TIGR|8350.m06398 (40%) |species == Weed; gene == At1g29110; score == 193; expect == 9.7e-50; MEOW:ATgn0004394 (37%) |species == rice; score == 192; expect == 2.8e-49; MEOW:gnl|TIGR|8357.m02332 (44%) |species == rice; score == 191; expect == 3.9e-49; MEOW:gnl|TIGR|8350.m01087 (36%) |species == rice; score == 185; expect == 2.5e-47; MEOW:gnl|TIGR|8352.m01063 (34%) |species == rice; score == 185; expect == 2.9e-47; MEOW:gnl|TIGR|8354.m03540 (36%) } # EOR GENR { RETE|ID 1 HUgn0001514 CHR 1 9 DID 1 LocusLink:1514 MAP 1 9q21-q22 NAM 1 cathepsin L ORG 1 Homo sapiens SYM 1 CTSL ID|HUgn0001514 DID|LocusLink:1514 ORG|Homo sapiens RSQ|REFSEQ:NM_001912 |REFSEQ:NM_145918 RPA|REFPROT:NP_001903 |REFPROT:NP_666023 DBA|XM:NM_001912 |XM:NM_145918 |NA:M20496 |NA:AF217997 |NA:AF304301 |NA:AK055599 |NA:AK075100 |NA:AL832167 |NA:BC012612 |NA:BI824449 |NA:BX537395 |NA:BX647101 |NA:BX647102 |NA:BX647413 |NA:BX647434 |NA:BX647435 |NA:BX648848 |NA:BX648849 |NA:BX649140 |NA:X05256 |NA:X12451 |NA:Y18462 |NA:none PAC|XP:NP_001903 |XP:NP_666023 SYM|CTSL NAM|cathepsin L SYN|MEP |CATL FNC|cathepsin L preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal cysteine proteinase that plays a |major role in intracellular protein catabolism. Its substrates include collagen |and elastin, as well as alpha-1 protease inhibitor, a major controlling element |of neutrophil elastase activity. The encoded protein has been implicated in several |pathologic processes, including myofibril necrosis in myopathies and in myocardial |ischemia, and in the renal tubular response to proteinuria. This protein, which |is a member of the peptidase C1 family, is a dimer composed of disulfide-linked |heavy and light chains, both produced from a single protein precursor. At least |two transcript variants encoding the same protein have been found for this gene. CHR|9 PRD|major excreted protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418123 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1514[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119824 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001912 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001912 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418123 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27035 DBL|UNIGENE:Hs.418123 |OMIM:116880 |SNP:1514 ENZ|EC:3.4.22.15 |cathepsin L activity ; GO:0004217 |hydrolase activity ; GO:0016787 MAP|9q21-q22 CEL|lysosome ; GO:0005764 HG|species == Human; gene == LOC118945; score == 558; expect == 1e-159; MEOW:HUgn0118945 (78%) |species == Human; gene == LOC375899; score == 556; expect == 7e-159; MEOW:HUgn0375899 (78%) |species == Human; gene == CTSL2; score == 552; expect == 8e-158; MEOW:HUgn0001515 (77%) |species == Human; gene == LOC340736; score == 544; expect == 2e-155; MEOW:HUgn0340736 (77%) |species == rat; score == 540; expect == 6e-154; MEOW:ref|NP_037288.1| (72%) |species == Mouse; gene == Ctsl; score == 533; expect == 4e-152; MEOW:MGgn0001760 (72%) |species == rat; score == 467; expect == 4e-132; MEOW:ref|XP_225137.2| (63%) |species == rat; score == 437; expect == 4e-123; MEOW:ref|NP_775155.1| (61%) |species == Mouse; gene == 4930486L24Rik; score == 436; expect == 1e-122; MEOW:MGgn0023936 (61%) |species == Zfish; gene == hgg1; score == 419; expect == 1e-117; MEOW:ZFgn0000078 (58%) |species == Mosquito; score == 375; expect == 2e-104; MEOW:AGgn0020002 (54%) |species == Fruitfly; gene == Cp1; score == 360; expect == 5e-100; MEOW:FBgn0013770 (51%) |species == Worm; gene == cpl-1; score == 334; expect == 2.4e-92; MEOW:CEgn0015282 (48%) |species == Weed; gene == At5g50260; score == 263; expect == 1.0e-70; MEOW:ATgn0023671 (47%) |species == rice; score == 261; expect == 3.0e-70; MEOW:gnl|TIGR|8352.m01090 (44%) |species == Weed; gene == At5g45890; score == 250; expect == 6.7e-67; MEOW:ATgn0025177 (42%) |species == rice; score == 248; expect == 6.7e-66; MEOW:gnl|TIGR|8352.m05370 (46%) |species == Weed; gene == At3g19390; score == 246; expect == 9.7e-66; MEOW:ATgn0012214 (41%) |species == rice; score == 245; expect == 3.0e-65; MEOW:gnl|TIGR|8359.m01677 (44%) |species == rice; score == 245; expect == 4.7e-65; MEOW:gnl|TIGR|8360.m04864 (41%) |species == rice; score == 244; expect == 1.0e-64; MEOW:gnl|TIGR|8352.m01106 (41%) |species == rice; score == 244; expect == 1.4e-64; MEOW:gnl|TIGR|8356.m04318 (42%) |species == rice; score == 240; expect == 1.5e-63; MEOW:gnl|TIGR|8350.m06398 (42%) |species == rice; score == 240; expect == 2.6e-63; MEOW:gnl|TIGR|8352.m01111 (43%) |species == rice; score == 238; expect == 9.8e-63; MEOW:gnl|TIGR|8352.m05375 (42%) |species == Weed; gene == At5g43060; score == 237; expect == 7.7e-63; MEOW:ATgn0022882 (41%) |species == Weed; gene == At4g36880; score == 235; expect == 3.8e-62; MEOW:ATgn0018307 (39%) |species == rice; score == 231; expect == 9.2e-61; MEOW:gnl|TIGR|8353.m03820 (40%) |species == rice; score == 229; expect == 1.2e-60; MEOW:gnl|TIGR|8352.m01063 (41%) |species == Weed; gene == At1g06260; score == 228; expect == 3.6e-60; MEOW:ATgn0000265 (38%) |species == Weed; gene == At5g60360; score == 228; expect == 4.7e-60; MEOW:ATgn0026751 (43%) |species == rice; score == 228; expect == 6.1e-60; MEOW:gnl|TIGR|8352.m05191 (39%) |species == rice; score == 228; expect == 3.0e-60; MEOW:gnl|TIGR|8353.m00082 (41%) |species == rice; score == 227; expect == 8.9e-60; MEOW:gnl|TIGR|8350.m06951 (40%) |species == Weed; gene == At3g19400; score == 226; expect == 1.0e-59; MEOW:ATgn0012216 (38%) |species == Weed; gene == At1g47128; score == 226; expect == 1.0e-59; MEOW:ATgn0026973 (40%) |species == Weed; gene == At3g45310; score == 224; expect == 4.3e-59; MEOW:ATgn0012522 (43%) |species == Weed; gene == At4g35350; score == 224; expect == 4.0e-59; MEOW:ATgn0019990 (41%) |species == Weed; gene == At3g48350; score == 224; expect == 7.5e-59; MEOW:ATgn0028518 (40%) |species == Weed; gene == At1g29090; score == 221; expect == 4.8e-58; MEOW:ATgn0004388 (39%) |species == Weed; gene == At3g48340; score == 221; expect == 6.1e-58; MEOW:ATgn0028517 (40%) |species == Weed; gene == At1g09850; score == 220; expect == 1.1e-57; MEOW:ATgn0003953 (41%) |species == Weed; gene == At1g20850; score == 217; expect == 6.9e-57; MEOW:ATgn0003692 (40%) |species == Weed; gene == At2g34080; score == 214; expect == 5.6e-56; MEOW:ATgn0010959 (39%) |species == rice; score == 213; expect == 1.7e-55; MEOW:gnl|TIGR|8351.m04613 (38%) |species == Weed; gene == At4g23520; score == 211; expect == 4.9e-55; MEOW:ATgn0017973 (37%) } # EOR GENR { RETE|ID 1 HUgn0001515 CHR 1 9 DID 1 LocusLink:1515 MAP 1 9q22.2 NAM 1 cathepsin L2 ORG 1 Homo sapiens SYM 1 CTSL2 ID|HUgn0001515 DID|LocusLink:1515 ORG|Homo sapiens RSQ|REFSEQ:NM_001333 RPA|REFPROT:NP_001324 DBA|XM:NM_001333 |NA:AB019534 |NA:AB001928 |NA:AF070448 |NA:AY358641 |NA:Y14734 |NA:none PAC|XP:NP_001324 SYM|CTSL2 NAM|cathepsin L2 SYN|CTSU |CTSV |CATL2 FNC|cathepsin L2 preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal |cysteine proteinase that may play an important role in corneal physiology. This |gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary |gland, or peritumoral tissues, suggesting a possible role for this gene in tumor |processes. CHR|9 PRD|cathepsin U |cathepsin V URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87417 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1515[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864262 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001333 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001333 DBL|UNIGENE:Hs.87417 |OMIM:603308 |SNP:1515 ENZ|EC:3.4.22.43 |cathepsin L activity ; GO:0004217 |hydrolase activity ; GO:0016787 MAP|9q22.2 CEL|lysosome ; GO:0005764 HG|species == Human; gene == CTSL; score == 552; expect == 8e-158; MEOW:HUgn0001514 (77%) |species == Mouse; gene == Ctsl; score == 542; expect == 7e-155; MEOW:MGgn0001760 (75%) |species == rat; score == 540; expect == 6e-154; MEOW:ref|NP_037288.1| (76%) |species == Human; gene == LOC118945; score == 497; expect == 3e-141; MEOW:HUgn0118945 (70%) |species == Human; gene == LOC375899; score == 495; expect == 2e-140; MEOW:HUgn0375899 (70%) |species == Human; gene == LOC340736; score == 481; expect == 3e-136; MEOW:HUgn0340736 (69%) |species == rat; score == 437; expect == 4e-123; MEOW:ref|XP_225137.2| (62%) |species == Mouse; gene == 4930486L24Rik; score == 436; expect == 4e-123; MEOW:MGgn0023936 (63%) |species == Zfish; gene == hgg1; score == 427; expect == 2e-121; MEOW:ZFgn0000078 (60%) |species == Mosquito; score == 352; expect == 1.5e-97; MEOW:AGgn0020002 (50%) |species == Fruitfly; gene == Cp1; score == 347; expect == 3.1e-96; MEOW:FBgn0013770 (51%) |species == Worm; gene == cpl-1; score == 320; expect == 3.7e-88; MEOW:CEgn0015282 (46%) |species == rice; score == 253; expect == 1.1e-67; MEOW:gnl|TIGR|8352.m01090 (45%) |species == Weed; gene == At5g45890; score == 251; expect == 5.2e-67; MEOW:ATgn0025177 (43%) |species == rice; score == 250; expect == 1.8e-66; MEOW:gnl|TIGR|8352.m05370 (47%) |species == rice; score == 250; expect == 1.5e-66; MEOW:gnl|TIGR|8352.m05375 (46%) |species == Weed; gene == At5g50260; score == 245; expect == 2.2e-65; MEOW:ATgn0023671 (46%) |species == rice; score == 242; expect == 5.2e-64; MEOW:gnl|TIGR|8352.m01106 (42%) |species == Weed; gene == At3g19390; score == 241; expect == 5.4e-64; MEOW:ATgn0012214 (41%) |species == Weed; gene == At1g06260; score == 236; expect == 1.0e-62; MEOW:ATgn0000265 (39%) |species == rice; score == 236; expect == 2.9e-62; MEOW:gnl|TIGR|8350.m06398 (39%) |species == rice; score == 236; expect == 2.9e-62; MEOW:gnl|TIGR|8352.m01111 (44%) |species == rice; score == 235; expect == 4.1e-62; MEOW:gnl|TIGR|8359.m01677 (44%) |species == rice; score == 234; expect == 1.4e-61; MEOW:gnl|TIGR|8356.m04318 (42%) |species == Weed; gene == At4g36880; score == 232; expect == 2.5e-61; MEOW:ATgn0018307 (40%) |species == rice; score == 232; expect == 5.4e-61; MEOW:gnl|TIGR|8357.m02753 (42%) |species == Weed; gene == At5g60360; score == 231; expect == 4.2e-61; MEOW:ATgn0026751 (43%) |species == Weed; gene == At3g48350; score == 228; expect == 4.7e-60; MEOW:ATgn0028518 (41%) |species == Weed; gene == At3g19400; score == 226; expect == 1.4e-59; MEOW:ATgn0012216 (39%) |species == rice; score == 226; expect == 2.3e-59; MEOW:gnl|TIGR|8352.m05191 (37%) |species == Weed; gene == At4g35350; score == 225; expect == 2.3e-59; MEOW:ATgn0019990 (42%) |species == Weed; gene == At5g43060; score == 224; expect == 5.2e-59; MEOW:ATgn0022882 (41%) |species == Weed; gene == At3g45310; score == 221; expect == 6.2e-58; MEOW:ATgn0012522 (41%) |species == rice; score == 221; expect == 7.3e-58; MEOW:gnl|TIGR|8360.m04864 (40%) |species == rice; score == 220; expect == 7.1e-58; MEOW:gnl|TIGR|8352.m01063 (40%) |species == rice; score == 219; expect == 2.4e-57; MEOW:gnl|TIGR|8353.m00082 (40%) |species == Weed; gene == At1g47128; score == 218; expect == 4.3e-57; MEOW:ATgn0026973 (37%) |species == rice; score == 215; expect == 4.0e-56; MEOW:gnl|TIGR|8357.m02332 (44%) |species == Weed; gene == At1g20850; score == 214; expect == 7.6e-56; MEOW:ATgn0003692 (41%) |species == rice; score == 214; expect == 4.6e-56; MEOW:gnl|TIGR|8350.m06951 (40%) |species == Weed; gene == At3g48340; score == 213; expect == 1.7e-55; MEOW:ATgn0028517 (40%) |species == Weed; gene == At1g29090; score == 211; expect == 6.4e-55; MEOW:ATgn0004388 (38%) |species == Weed; gene == At1g09850; score == 210; expect == 1.1e-54; MEOW:ATgn0003953 (40%) |species == Weed; gene == At2g34080; score == 209; expect == 1.4e-54; MEOW:ATgn0010959 (40%) |species == Weed; gene == At4g39090; score == 209; expect == 2.5e-54; MEOW:ATgn0020485 (41%) |species == rice; score == 209; expect == 1.4e-54; MEOW:gnl|TIGR|8354.m03540 (38%) |species == Weed; gene == At3g49340; score == 206; expect == 1.5e-53; MEOW:ATgn0015051 (37%) |species == Weed; gene == At3g43960; score == 206; expect == 1.3e-53; MEOW:ATgn0016025 (40%) |species == Weed; gene == A494; score == 203; expect == 1.8e-52; MEOW:ATgn0010461 (40%) } # EOR GENR { RETE|ID 1 HUgn0001516 CHR 1 10 DID 1 LocusLink:1516 MAP 1 10q NAM 1 cathepsin L-like 1 ORG 1 Homo sapiens SYM 1 CTSLL1 ID|HUgn0001516 DID|LocusLink:1516 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L07772 SYM|CTSLL1 NAM|cathepsin L-like 1 CHR|10 PRD|cathepsin L-like 1 (pseudogene) MAP|10q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:250757 } # EOR GENR { RETE|ID 1 HUgn0001517 CHR 1 10 DID 1 LocusLink:1517 MAP 1 10q NAM 1 cathepsin L-like 2 ORG 1 Homo sapiens SYM 1 CTSLL2 ID|HUgn0001517 DID|LocusLink:1517 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L25628 SYM|CTSLL2 NAM|cathepsin L-like 2 CHR|10 PRD|cathepsin L-like 2 (pseudogene) MAP|10q DBL|SNP:1517 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:250758 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=L25628 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=L25628 } # EOR GENR { RETE|ID 1 HUgn0001518 CHR 1 10 DID 1 LocusLink:1518 MAP 1 10q22.3-q23.1 NAM 1 cathepsin L-like 3 ORG 1 Homo sapiens SYM 1 CTSLL3 ID|HUgn0001518 DID|LocusLink:1518 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L25629 SYM|CTSLL3 NAM|cathepsin L-like 3 CHR|10 MAP|10q22.3-q23.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:250760 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=L25629 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=L25629 } # EOR GENR { RETE|ID 1 HUgn0001519 CHR 1 4 DID 1 LocusLink:1519 MAP 1 4q31-q32 NAM 1 cathepsin O ORG 1 Homo sapiens SYM 1 CTSO ID|HUgn0001519 DID|LocusLink:1519 ORG|Homo sapiens RSQ|REFSEQ:NM_001334 RPA|REFPROT:NP_001325 DBA|XM:NM_001334 |NA:BC049206 |NA:BG617165 |NA:BI834113 |NA:BQ006443 |NA:X77383 |NA:none PAC|XP:NP_001325 SYM|CTSO NAM|cathepsin O SYN|CTSO1 FNC|cathepsin O preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by the gene is a cysteine proteinase and a member of the papain |superfamily. This proteolytic enzyme is involved in cellular protein degradation |and turnover. The recombinant form of this enzyme was shown to degrade synthetic |peptides typically used as substrates for cysteine proteinases and its proteolytic |activity was abolished by an inhibitor of cyteine proteinase. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75262 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1519[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439004 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001334 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001334 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75262 DBL|UNIGENE:Hs.75262 |OMIM:600550 |SNP:1519 MAP|4q31-q32 ENZ|cysteine-type endopeptidase activity ; GO:0004197 |hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Ctso; score == 463; expect == 6e-131; MEOW:MGgn0030255 (76%) |species == Worm; gene == F41E6.6; score == 174; expect == 5.2e-44; MEOW:CEgn0010588 (37%) |species == Weed; gene == At4g16190; score == 172; expect == 1.7e-43; MEOW:ATgn0020757 (35%) |species == Weed; gene == A494; score == 169; expect == 2.4e-42; MEOW:ATgn0010461 (33%) |species == Mosquito; gene == LOC18713; score == 162; expect == 4.3e-40; MEOW:AGgn0018713 (33%) |species == Weed; gene == At4g39090; score == 162; expect == 2.3e-40; MEOW:ATgn0020485 (33%) |species == rice; score == 162; expect == 2.9e-40; MEOW:gnl|TIGR|8351.m02503 (33%) |species == Mosquito; gene == LOC22503; score == 158; expect == 1.9e-39; MEOW:AGgn0022503 (35%) |species == Human; gene == CTSF; score == 158; expect == 7.3e-39; MEOW:HUgn0008722 (33%) |species == rice; score == 158; expect == 7.2e-39; MEOW:gnl|TIGR|8355.m02746 (34%) |species == Fruitfly; gene == CG4847; score == 157; expect == 1.0e-38; MEOW:FBgn0034229 (32%) |species == rice; score == 155; expect == 6.1e-38; MEOW:gnl|TIGR|8352.m02211 (34%) |species == rat; score == 151; expect == 4.1e-37; MEOW:ref|XP_341988.1| (34%) |species == Worm; gene == cpl-1; score == 150; expect == 6.2e-37; MEOW:CEgn0015282 (40%) |species == Mosquito; gene == LOC10826; score == 149; expect == 1.1e-36; MEOW:AGgn0010826 (38%) |species == Weed; gene == At5g45890; score == 149; expect == 2.2e-36; MEOW:ATgn0025177 (33%) |species == rat; score == 148; expect == 3.4e-36; MEOW:ref|NP_037288.1| (35%) |species == Weed; gene == At5g60360; score == 147; expect == 7.6e-36; MEOW:ATgn0026751 (35%) |species == Human; gene == CTSH; score == 147; expect == 9.9e-36; MEOW:HUgn0001512 (33%) |species == rat; score == 147; expect == 1.0e-35; MEOW:ref|XP_225137.2| (39%) |species == Fruitfly; gene == Cp1; score == 146; expect == 1.3e-35; MEOW:FBgn0013770 (33%) |species == Weed; gene == At1g06260; score == 145; expect == 3.8e-35; MEOW:ATgn0000265 (33%) |species == rice; score == 144; expect == 1.8e-34; MEOW:gnl|TIGR|8359.m01677 (33%) |species == Weed; gene == At5g43060; score == 143; expect == 1.1e-34; MEOW:ATgn0022882 (32%) |species == rice; score == 143; expect == 3.1e-34; MEOW:gnl|TIGR|8352.m05370 (33%) |species == rice; score == 143; expect == 1.7e-34; MEOW:gnl|TIGR|8353.m00082 (34%) |species == rat; score == 143; expect == 1.4e-34; MEOW:ref|NP_037071.1| (34%) |species == Weed; gene == At3g19390; score == 142; expect == 3.2e-34; MEOW:ATgn0012214 (35%) |species == rat; score == 142; expect == 2.5e-34; MEOW:ref|XP_225128.2| (35%) |species == Mosquito; score == 141; expect == 3.1e-34; MEOW:AGgn0020002 (39%) |species == Human; gene == CTSL2; score == 141; expect == 5.5e-34; MEOW:HUgn0001515 (35%) |species == Human; gene == CTSS; score == 141; expect == 5.5e-34; MEOW:HUgn0001520 (35%) |species == rice; score == 141; expect == 6.3e-34; MEOW:gnl|TIGR|8357.m03277 (32%) |species == rat; score == 141; expect == 4.2e-34; MEOW:ref|XP_214412.2| (34%) |species == rat; score == 141; expect == 5.5e-34; MEOW:ref|XP_225125.1| (34%) |species == Weed; gene == At5g50260; score == 140; expect == 1.2e-33; MEOW:ATgn0023671 (35%) |species == Weed; gene == At4g36880; score == 139; expect == 2.7e-33; MEOW:ATgn0018307 (31%) |species == Human; gene == LOC375899; score == 138; expect == 4.6e-33; MEOW:HUgn0375899 (33%) |species == rice; score == 138; expect == 1.0e-32; MEOW:gnl|TIGR|8357.m02332 (32%) |species == Mosquito; gene == LOC13730; score == 137; expect == 2.0e-32; MEOW:AGgn0013730 (31%) |species == Human; gene == CTSL; score == 136; expect == 1.8e-32; MEOW:HUgn0001514 (34%) |species == rice; score == 136; expect == 5.0e-32; MEOW:gnl|TIGR|8352.m05375 (35%) |species == rice; score == 135; expect == 6.5e-32; MEOW:gnl|TIGR|8357.m03268 (35%) |species == rice; score == 134; expect == 6.6e-32; MEOW:gnl|TIGR|8350.m02266 (31%) |species == rice; score == 134; expect == 1.1e-31; MEOW:gnl|TIGR|8357.m03272 (35%) |species == Human; gene == LOC118945; score == 133; expect == 1.5e-31; MEOW:HUgn0118945 (33%) |species == rice; score == 133; expect == 1.6e-31; MEOW:gnl|TIGR|8350.m02265 (31%) |species == rice; score == 133; expect == 1.1e-31; MEOW:gnl|TIGR|8352.m01111 (32%) |species == rat; score == 133; expect == 1.5e-31; MEOW:ref|NP_059016.1| (32%) |species == Fruitfly; gene == CG5367; score == 131; expect == 2.5e-31; MEOW:FBgn0032228 (33%) |species == rat; score == 131; expect == 5.7e-31; MEOW:ref|NP_113748.1| (35%) |species == Zfish; gene == hgg1; score == 129; expect == 1.5e-31; MEOW:ZFgn0000078 (33%) } # EOR GENR { RETE|ID 1 HUgn0001520 CHR 1 1 DID 1 LocusLink:1520 MAP 1 1q21 NAM 1 cathepsin S ORG 1 Homo sapiens SYM 1 CTSS ID|HUgn0001520 DID|LocusLink:1520 ORG|Homo sapiens RSQ|REFSEQ:NM_004079 RPA|REFPROT:NP_004070 DBA|XM:NM_004079 |NA:U07369 |NA:U07370 |NA:U07371 |NA:U07372 |NA:U07373 |NA:U07374 |NA:AK024855 |NA:BC002642 |NA:BQ006623 |NA:M86553 |NA:M90696 |NA:S93414 |NA:none |NA:AL356292 PAC|XP:NP_004070 SYM|CTSS NAM|cathepsin S SYN|MGC3886 FNC|cathepsin S preproprotein |proteolysis and peptidolysis ; GO:0006508 |immune response ; GO:0006955 REAB|The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal |cysteine proteinase that may participate in the degradation of antigenic proteins |to peptides for presentation on MHC class II molecules. The encoded protein can |function as an elastase over a broad pH range in alveolar macrophages. Transcript |variants utilizing alternative polyadenylation signals exist for this gene. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181301 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1520[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132414 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004079 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004079 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=181301 DBL|UNIGENE:Hs.181301 |OMIM:116845 |SNP:1520 ENZ|EC:3.4.22.27 |cathepsin S activity ; GO:0004218 |hydrolase activity ; GO:0016787 MAP|1q21 CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Ctss; score == 529; expect == 1e-150; MEOW:MGgn0001762 (75%) |species == rat; score == 505; expect == 1e-143; MEOW:ref|NP_059016.1| (76%) |species == Human; gene == CTSK; score == 369; expect == 1e-102; MEOW:HUgn0001513 (56%) |species == Human; gene == CTSL2; score == 329; expect == 1.5e-90; MEOW:HUgn0001515 (49%) |species == Human; gene == CTSL; score == 323; expect == 8.1e-89; MEOW:HUgn0001514 (48%) |species == Zfish; gene == hgg1; score == 319; expect == 1.6e-87; MEOW:ZFgn0000078 (48%) |species == Human; gene == LOC375899; score == 305; expect == 1.8e-83; MEOW:HUgn0375899 (48%) |species == Mosquito; score == 303; expect == 1.3e-82; MEOW:AGgn0020002 (46%) |species == Fruitfly; gene == Cp1; score == 302; expect == 1.1e-82; MEOW:FBgn0013770 (50%) |species == Human; gene == LOC118945; score == 302; expect == 1.5e-82; MEOW:HUgn0118945 (47%) |species == Worm; gene == cpl-1; score == 298; expect == 1.9e-81; MEOW:CEgn0015282 (47%) |species == Weed; gene == At5g43060; score == 252; expect == 2.3e-67; MEOW:ATgn0022882 (43%) |species == Weed; gene == At1g47128; score == 250; expect == 8.7e-67; MEOW:ATgn0026973 (42%) |species == Weed; gene == At3g19390; score == 240; expect == 1.2e-63; MEOW:ATgn0012214 (43%) |species == Weed; gene == At1g29090; score == 239; expect == 2.0e-63; MEOW:ATgn0004388 (41%) |species == rice; score == 238; expect == 7.7e-63; MEOW:gnl|TIGR|8352.m05191 (38%) |species == rice; score == 236; expect == 1.3e-62; MEOW:gnl|TIGR|8352.m01106 (42%) |species == Weed; gene == At1g09850; score == 235; expect == 2.9e-62; MEOW:ATgn0003953 (42%) |species == rice; score == 235; expect == 3.9e-62; MEOW:gnl|TIGR|8352.m01090 (40%) |species == rice; score == 234; expect == 1.0e-61; MEOW:gnl|TIGR|8352.m05370 (44%) |species == rice; score == 233; expect == 3.1e-61; MEOW:gnl|TIGR|8353.m03820 (40%) |species == Weed; gene == At3g19400; score == 231; expect == 4.2e-61; MEOW:ATgn0012216 (41%) |species == Weed; gene == At4g23520; score == 231; expect == 5.5e-61; MEOW:ATgn0017973 (41%) |species == Weed; gene == At1g06260; score == 229; expect == 2.2e-60; MEOW:ATgn0000265 (41%) |species == Weed; gene == At4g11320; score == 228; expect == 2.7e-60; MEOW:ATgn0018328 (42%) |species == rice; score == 228; expect == 5.0e-60; MEOW:gnl|TIGR|8359.m01677 (41%) |species == Weed; gene == At4g11310; score == 226; expect == 1.3e-59; MEOW:ATgn0018326 (42%) |species == Weed; gene == At2g27420; score == 225; expect == 3.0e-59; MEOW:ATgn0010423 (39%) |species == Weed; gene == At2g34080; score == 224; expect == 5.4e-59; MEOW:ATgn0010959 (40%) |species == Weed; gene == At4g36880; score == 221; expect == 5.1e-58; MEOW:ATgn0018307 (41%) |species == Weed; gene == At1g29080; score == 220; expect == 7.8e-58; MEOW:ATgn0004386 (37%) |species == Weed; gene == At5g45890; score == 219; expect == 1.7e-57; MEOW:ATgn0025177 (38%) |species == Weed; gene == At5g60360; score == 217; expect == 9.0e-57; MEOW:ATgn0026751 (40%) |species == rice; score == 216; expect == 3.0e-56; MEOW:gnl|TIGR|8352.m01111 (40%) |species == rice; score == 216; expect == 2.3e-56; MEOW:gnl|TIGR|8352.m05375 (44%) |species == rice; score == 215; expect == 6.8e-56; MEOW:gnl|TIGR|8357.m02753 (40%) |species == Weed; gene == At4g35350; score == 213; expect == 1.3e-55; MEOW:ATgn0019990 (40%) |species == rice; score == 212; expect == 2.9e-55; MEOW:gnl|TIGR|8353.m00082 (39%) |species == Weed; gene == At5g50260; score == 211; expect == 5.0e-55; MEOW:ATgn0023671 (40%) |species == rice; score == 211; expect == 1.3e-54; MEOW:gnl|TIGR|8356.m04318 (40%) |species == Weed; gene == At3g49340; score == 210; expect == 7.9e-55; MEOW:ATgn0015051 (38%) |species == Weed; gene == At3g48350; score == 209; expect == 2.5e-54; MEOW:ATgn0028518 (41%) |species == Weed; gene == At1g20850; score == 206; expect == 1.6e-53; MEOW:ATgn0003692 (38%) |species == rice; score == 206; expect == 2.1e-53; MEOW:gnl|TIGR|8350.m06951 (40%) |species == rice; score == 204; expect == 5.3e-53; MEOW:gnl|TIGR|8352.m01063 (36%) |species == Weed; gene == At1g29110; score == 203; expect == 9.4e-53; MEOW:ATgn0004394 (36%) |species == rice; score == 199; expect == 1.5e-51; MEOW:gnl|TIGR|8351.m04613 (37%) |species == rice; score == 196; expect == 1.3e-50; MEOW:gnl|TIGR|8350.m06398 (48%) } # EOR GENR { RETE|ID 1 HUgn0001521 CHR 1 11 DID 1 LocusLink:1521 MAP 1 11q13.1 NAM 1 cathepsin W (lymphopain) ORG 1 Homo sapiens SYM 1 CTSW ID|HUgn0001521 DID|LocusLink:1521 ORG|Homo sapiens RSQ|REFSEQ:NM_001335 RPA|REFPROT:NP_001326 DBA|XM:NM_001335 |NA:AF015954 |NA:AF055903 |NA:AF013611 |NA:BC035637 |NA:BC048255 |NA:BI833187 |NA:BM996548 |NA:none PAC|XP:NP_001326 SYM|CTSW NAM|cathepsin W (lymphopain) SYN|LYPN FNC|cathepsin W preproprotein REAB|The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine |proteinase that may have a specific function in the mechanism or regulation of T-cell |cytolytic activity. The encoded protein is found associated with the membrane inside |the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of |this gene is up-regulated by interleukin-2. CHR|11 PRD|lymphopain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416848 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1521[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6262143 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001335 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001335 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=416848 DBL|UNIGENE:Hs.416848 |OMIM:602364 |SNP:1521 MAP|11q13.1 HG|species == Mouse; gene == Ctsw; score == 523; expect == 5e-149; MEOW:MGgn0001763 (68%) |species == rat; score == 453; expect == 7e-128; MEOW:ref|XP_215183.2| (66%) |species == Human; gene == CTSF; score == 238; expect == 4.3e-63; MEOW:HUgn0008722 (38%) |species == Mosquito; gene == LOC18713; score == 210; expect == 1.4e-54; MEOW:AGgn0018713 (35%) |species == Worm; gene == F41E6.6; score == 202; expect == 3.3e-52; MEOW:CEgn0010588 (33%) |species == rice; score == 194; expect == 6.8e-50; MEOW:gnl|TIGR|8352.m02211 (35%) |species == Weed; gene == At4g39090; score == 192; expect == 3.2e-49; MEOW:ATgn0020485 (35%) |species == Weed; gene == A494; score == 190; expect == 1.2e-48; MEOW:ATgn0010461 (35%) |species == Mosquito; gene == LOC22503; score == 188; expect == 4.0e-48; MEOW:AGgn0022503 (36%) |species == rice; score == 180; expect == 1.0e-45; MEOW:gnl|TIGR|8351.m02503 (34%) |species == Worm; gene == R09F10.1; score == 171; expect == 4.8e-43; MEOW:CEgn0014721 (33%) |species == Weed; gene == At4g16190; score == 169; expect == 2.3e-42; MEOW:ATgn0020757 (34%) |species == Weed; gene == At1g29090; score == 154; expect == 7.1e-38; MEOW:ATgn0004388 (31%) |species == Fruitfly; gene == Cp1; score == 146; expect == 1.8e-35; MEOW:FBgn0013770 (30%) |species == Fruitfly; gene == 26-29kD-proteinase; score == 143; expect == 2.2e-34; MEOW:FBgn0028967 (29%) } # EOR GENR { RETE|ID 1 HUgn0001522 CHR 1 20 DID 1 LocusLink:1522 MAP 1 20q13 NAM 1 cathepsin Z ORG 1 Homo sapiens SYM 1 CTSZ ID|HUgn0001522 DID|LocusLink:1522 ORG|Homo sapiens RSQ|REFSEQ:NM_001336 RPA|REFPROT:NP_001327 DBA|XM:NM_001336 |NA:AF136274 |NA:AF136275 |NA:AF136276 |NA:AL109840 |NA:AF009923 |NA:AF073890 |NA:AF136273 |NA:BC042168 |NA:none |NA:BC025419 PAC|XP:NP_001327 SYM|CTSZ NAM|cathepsin Z SYN|CTSX FNC|cathepsin Z preproprotein |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a lysosomal cysteine proteinase and member of |the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase |activities. The encoded protein has also been known as cathepsin X and cathepsin |P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, |like other members of this family, may be involved in tumorigenesis. At least two |transcript variants of this gene have been found, but the full-length nature of |only one of them has been determined. CHR|20 PRD|preprocathepsin P |cathepsin X precursor |cathepsin Z precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=252549 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1522[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864263 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001336 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001336 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=252549 DBL|UNIGENE:Hs.252549 |OMIM:603169 |SNP:1522 MAP|20q13 ENZ|cysteine-type endopeptidase activity ; GO:0004197 |hydrolase activity ; GO:0016787 CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Ctsz; score == 539; expect == 5e-154; MEOW:MGgn0014951 (86%) } # EOR GENR { RETE|ID 1 HUgn0001523 CHR 1 7 DID 1 LocusLink:1523 MAP 1 7q22.1 NAM 1 cut-like 1, CCAAT displacement protein (Drosophila) ORG 1 Homo sapiens SYM 1 CUTL1 ID|HUgn0001523 DID|LocusLink:1523 ORG|Homo sapiens RSQ|REFSEQ:NM_001913 |REFSEQ:NM_181500 |REFSEQ:NM_181552 RPA|REFPROT:NP_001904 |REFPROT:NP_852477 |REFPROT:NP_853530 DBA|XM:NM_001913 |XM:NM_181500 |XM:NM_181552 |XM:NM_001913 |XM:NM_181500 |XM:NM_181552 |NA:AF047825 |NA:AK122726 |NA:AK125076 |NA:AK125097 |NA:BC012323 |NA:BC025422 |NA:L12579 |NA:M74099 PAC|XP:NP_001904 |XP:NP_852477 |XP:NP_853530 |XP:NP_001904 |XP:NP_852477 |XP:NP_853530 SYM|CUTL1 NAM|cut-like 1, CCAAT displacement protein (Drosophila) SYN|CDP |CUX |p75 |CASP |COY1 |p100 |p110 |p200 FNC|CCAAT displacement protein isoform a |CCAAT displacement protein isoform b |CCAAT displacement protein isoform c |development ; GO:0007275 |regulation of transcription from Pol II promoter ; GO:0006357 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|The protein encoded by this gene is a member of the homeodomain family of DNA binding |proteins. It may regulate gene expression, morphogenesis, and differentiation and |it may also play a role in the cell cycle progession. Several alternatively spliced |transcript variants of this gene have been described, but the full-length nature |of some of these variants has not been determined. CHR|7 PRD|cut-like 1 |cut homolog |cut homeobox URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438974 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1523[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135993 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_181552 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_181552 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438974 DBL|UNIGENE:Hs.438974 |OMIM:116896 |SNP:1523 MAP|7q22.1 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 HG|species == rat; score == 627; expect == 2e-179; MEOW:ref|XP_341054.1| (80%) |species == Mouse; gene == Cutl1; score == 397; expect == 2e-110; MEOW:MGgn0001771 (96%) |species == rice; score == 358; expect == 1.2e-98; MEOW:gnl|TIGR|8360.m04510 (32%) |species == Weed; gene == At3g18480; score == 350; expect == 2.0e-96; MEOW:ATgn0016335 (31%) |species == Human; gene == CUTL2; score == 317; expect == 1.4e-86; MEOW:HUgn0023316 (46%) |species == Yeast; gene == COY1; score == 231; expect == 3.7e-61; MEOW:SGgn0001662 (26%) |species == Worm; gene == ceh-44; score == 174; expect == 7.7e-44; MEOW:CEgn0030783 (26%) } # EOR GENR { RETE|ID 1 HUgn0001524 CHR 1 3 DID 1 LocusLink:1524 MAP 1 3p21 NAM 1 chemokine (C-X3-C motif) receptor 1 ORG 1 Homo sapiens SYM 1 CX3CR1 ID|HUgn0001524 DID|LocusLink:1524 ORG|Homo sapiens RSQ|REFSEQ:NM_001337 RPA|REFPROT:NP_001328 DBA|XM:NM_001337 |NA:BC017855 |NA:BC028078 |NA:U20350 |NA:U28934 |NA:none PAC|XP:NP_001328 SYM|CX3CR1 NAM|chemokine (C-X3-C motif) receptor 1 SYN|V28 |CCRL1 |GPR13 |CMKDR1 |GPRV28 |CMKBRL1 FNC|chemokine (C-X3-C motif) receptor 1 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cellular defense response ; GO:0006968 |cell adhesion ; GO:0007155 CHR|3 PRD|G protein-coupled receptor 13 |chemokine (C-X3-C) receptor 1 |chemokine (C-C) receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1524[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:578901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001337 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001337 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78913 DBL|UNIGENE:Hs.78913 |OMIM:601470 |SNP:1524 |UWCM:578901.html MAP|3p21 PHP|Rapid progression to AIDS from HIV1 infection ENZ|chemokine receptor activity ; GO:0004950 |coreceptor activity ; GO:0015026 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 511; expect == 3e-145; MEOW:ref|NP_598218.1| (82%) |species == Mouse; gene == Cx3cr1; score == 506; expect == 7e-144; MEOW:MGgn0001775 (82%) |species == Human; gene == CCR8; score == 255; expect == 3.9e-68; MEOW:HUgn0001237 (41%) |species == Human; gene == CCR4; score == 246; expect == 1.8e-65; MEOW:HUgn0001233 (42%) |species == Human; gene == CCR3; score == 236; expect == 1.1e-62; MEOW:HUgn0001232 (43%) |species == Human; gene == CCR2; score == 228; expect == 5.4e-60; MEOW:HUgn0001231 (45%) |species == chimp; score == 223; expect == 1.6e-58; MEOW:sp|O18770|O18770 (42%) |species == Human; gene == CCR1; score == 210; expect == 1.1e-54; MEOW:HUgn0001230 (43%) |species == Human; gene == CXCR4; score == 206; expect == 1.6e-53; MEOW:HUgn0007852 (35%) |species == chimp; score == 206; expect == 1.6e-53; MEOW:sp|P30991|CCR4_HUMAN (35%) |species == chimp; score == 206; expect == 1.6e-53; MEOW:sp|Q9TV50|Q9TV50 (43%) |species == chimp; score == 203; expect == 3.3e-54; MEOW:sp|Q9TUW5|Q9TUW5 (43%) |species == chimp; score == 203; expect == 1.3e-52; MEOW:sp|Q9TUW6|Q9TUW6 (43%) |species == chimp; score == 202; expect == 2.3e-52; MEOW:sp|AAK43377|AAK43377 (43%) |species == chimp; score == 202; expect == 2.3e-52; MEOW:sp|P56440|CKR5_PANTR (43%) |species == chimp; score == 202; expect == 2.1e-52; MEOW:sp|Q9TQW4|Q9TQW4 (43%) |species == chimp; score == 202; expect == 2.8e-52; MEOW:sp|Q9TUW7|Q9TUW7 (43%) |species == chimp; score == 201; expect == 4.8e-52; MEOW:sp|Q9TUW4|Q9TUW4 (43%) |species == chimp; score == 199; expect == 1.5e-51; MEOW:sp|O18771|O18771 (41%) |species == chimp; score == 198; expect == 5.6e-51; MEOW:sp|O18772|O18772 (42%) |species == Zfish; gene == cxcr4a; score == 155; expect == 2.2e-39; MEOW:ZFgn0002418 (36%) |species == Zfish; gene == cxcr4b; score == 150; expect == 5.4e-38; MEOW:ZFgn0002126 (33%) } # EOR GENR { RETE|ID 1 HUgn0001525 CHR 1 21 DID 1 LocusLink:1525 MAP 1 21q21.1 NAM 1 coxsackie virus and adenovirus receptor ORG 1 Homo sapiens SYM 1 CXADR ID|HUgn0001525 DID|LocusLink:1525 ORG|Homo sapiens RSQ|REFSEQ:NM_001338 RPA|REFPROT:NP_001329 DBA|XM:NM_001338 |NA:AF124598 |NA:BC003684 |NA:BC010536 |NA:U90716 |NA:Y07593 |NA:none PAC|XP:NP_001329 SYM|CXADR NAM|coxsackie virus and adenovirus receptor SYN|CAR |HCAR FNC|coxsackie virus and adenovirus receptor CHR|21 PRD|46 kD coxsackievirus and adenovirus receptor (CAR) protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79187 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1525[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835481 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001338 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001338 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79187 DBL|UNIGENE:Hs.79187 |OMIM:602621 |SNP:1525 MAP|21q21.1 ENZ|receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 654; expect == 0.0; MEOW:ref|XP_340963.1| (90%) |species == Mouse; gene == Cxadr; score == 600; expect == 4e-172; MEOW:MGgn0001776 (89%) |species == Zfish; gene == cxadr; score == 345; expect == 1.2e-96; MEOW:ZFgn0002625 (52%) |species == rat; score == 186; expect == 4.6e-47; MEOW:ref|XP_342168.1| (63%) |species == rat; score == 186; expect == 3.0e-47; MEOW:ref|XP_343454.1| (63%) |species == Human; gene == IGSF11; score == 150; expect == 1.4e-36; MEOW:HUgn0152404 (31%) |species == Human; gene == ASAM; score == 142; expect == 2.9e-34; MEOW:HUgn0079827 (30%) } # EOR GENR { RETE|ID 1 HUgn0001526 CHR 1 19 DID 1 LocusLink:1526 MAP 1 19pter-q13 NAM 1 coxsackie virus B3 sensitivity ORG 1 Homo sapiens SYM 1 CXB3S ID|HUgn0001526 DID|LocusLink:1526 ORG|Homo sapiens SYM|CXB3S NAM|coxsackie virus B3 sensitivity SYN|CB3S CHR|19 DBL|OMIM:120050 MAP|19pter-q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119826 } # EOR GENR { RETE|ID 1 HUgn0001527 CHR 1 X DID 1 LocusLink:1527 MAP 1 Xq28 NAM 1 chromosome X open reading frame 2 ORG 1 Homo sapiens SYM 1 CXorf2 ID|HUgn0001527 DID|LocusLink:1527 ORG|Homo sapiens RSQ|REFSEQ:NM_001586 RPA|REFPROT:NP_001577 DBA|XM:NM_001586 |NA:BC026183 |NA:U93720 |NA:none PAC|XP:NP_001577 SYM|CXorf2 NAM|chromosome X open reading frame 2 SYN|TEX28 FNC|chromosome X open reading frame 2 |biological_process unknown ; GO:0000004 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115365 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=461029 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1527[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9478354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001586 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001586 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115365 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=461029 DBL|UNIGENE:Hs.115365 |UNIGENE:Hs.461029 |OMIM:300092 |SNP:1527 MAP|Xq28 ENZ|molecular_function unknown ; GO:0005554 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 391; expect == 4e-109; MEOW:ref|XP_219720.1| (57%) } # EOR GENR { RETE|ID 1 HUgn0001528 CHR 1 18 DID 1 LocusLink:1528 MAP 1 18q23 NAM 1 cytochrome b-5 ORG 1 Homo sapiens SYM 1 CYB5 ID|HUgn0001528 DID|LocusLink:1528 ORG|Homo sapiens RSQ|REFSEQ:NM_001914 RPA|REFPROT:NP_001905 DBA|XM:NM_001914 |NA:L39945 |NA:BC015182 |NA:M22865 |NA:M60174 |NA:S76422 |NA:none PAC|XP:NP_001905 SYM|CYB5 NAM|cytochrome b-5 FNC|cytochrome b-5 |electron transport ; GO:0006118 |energy pathways ; GO:0006091 CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83834 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1528[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125236 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001914 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001914 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83834 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1528 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27068 DBL|UNIGENE:Hs.83834 |OMIM:250790 |SNP:1528 MAP|18q23 PHP|Methemoglobinemia due to cytochrome b5 deficiency ENZ|cytochrome-c oxidase activity ; GO:0004129 CEL|microsome ; GO:0005792 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == rat; score == 182; expect == 3.2e-47; MEOW:ref|NP_071581.1| (88%) |species == Mouse; gene == Cyb5; score == 178; expect == 3.0e-46; MEOW:MGgn0028025 (86%) } # EOR GENR { RETE|ID 1 HUgn0001529 CHR 1 X DID 1 LocusLink:1529 MAP 1 X NAM 1 cytochrome b-5 pseudogene 1 ORG 1 Homo sapiens SYM 1 CYB5P1 ID|HUgn0001529 DID|LocusLink:1529 CLA|Pseudogene ORG|Homo sapiens SYM|CYB5P1 NAM|cytochrome b-5 pseudogene 1 CHR|X MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125237 } # EOR GENR { RETE|ID 1 HUgn0001530 DID 1 LocusLink:1530 NAM 1 cytochrome b-5 pseudogene 2 ORG 1 Homo sapiens SYM 1 CYB5P2 ID|HUgn0001530 DID|LocusLink:1530 CLA|Pseudogene ORG|Homo sapiens SYM|CYB5P2 NAM|cytochrome b-5 pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134403 } # EOR GENR { RETE|ID 1 HUgn0001531 CHR 1 14 DID 1 LocusLink:1531 MAP 1 14q31-q32.1 NAM 1 cytochrome b-5 pseudogene 3 ORG 1 Homo sapiens SYM 1 CYB5P3 ID|HUgn0001531 DID|LocusLink:1531 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M25765 SYM|CYB5P3 NAM|cytochrome b-5 pseudogene 3 SYN|Psgb-5-1 CHR|14 PRD|cytochrome b-5 pseudogene 1 MAP|14q31-q32.1 DBL|SNP:1531 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:373585 } # EOR GENR { RETE|ID 1 HUgn0001532 CHR 1 20 DID 1 LocusLink:1532 MAP 1 20p11.2 NAM 1 cytochrome b-5 pseudogene 4 ORG 1 Homo sapiens SYM 1 CYB5P4 ID|HUgn0001532 DID|LocusLink:1532 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL353132 SYM|CYB5P4 NAM|cytochrome b-5 pseudogene 4 SYN|Psgb-5-2 |bA189G24.1 CHR|20 MAP|20p11.2 DBL|SNP:1532 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:373586 } # EOR GENR { RETE|ID 1 HUgn0001533 DID 1 LocusLink:1533 NAM 1 cytochrome b-5 pseudogene 5 ORG 1 Homo sapiens SYM 1 CYB5P5 ID|HUgn0001533 DID|LocusLink:1533 CLA|Pseudogene ORG|Homo sapiens SYM|CYB5P5 NAM|cytochrome b-5 pseudogene 5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:373587 } # EOR GENR { RETE|ID 1 HUgn0001534 CHR 1 17 DID 1 LocusLink:1534 MAP 1 17q11-qter NAM 1 cytochrome b-561 ORG 1 Homo sapiens SYM 1 CYB561 ID|HUgn0001534 DID|LocusLink:1534 ORG|Homo sapiens RSQ|REFSEQ:NM_001915 RPA|REFPROT:NP_001906 DBA|XM:NM_001915 |NA:AK095244 |NA:BC000021 |NA:BC002976 |NA:none PAC|XP:NP_001906 SYM|CYB561 NAM|cytochrome b-561 FNC|cytochrome b-561 |electron transport ; GO:0006118 |energy pathways ; GO:0006091 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355264 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1534[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228138 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001915 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001915 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355264 DBL|UNIGENE:Hs.355264 |OMIM:600019 |SNP:1534 MAP|17q11-qter ENZ|cytochrome-b5 reductase activity ; GO:0004128 CEL|secretory vesicle membrane ; GO:0005804 |secretory vesicle ; GO:0005803 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Cyb561; score == 408; expect == 9e-115; MEOW:MGgn0001780 (89%) |species == rat; score == 344; expect == 2.4e-95; MEOW:ref|XP_221030.2| (75%) |species == Mosquito; gene == LOC21225; score == 184; expect == 2.8e-47; MEOW:AGgn0021225 (38%) |species == Fruitfly; gene == CG1275; score == 160; expect == 1.2e-39; MEOW:FBgn0035321 (38%) |species == Human; gene == CYBRD1; score == 160; expect == 9.6e-40; MEOW:HUgn0079901 (42%) |species == Human; gene == MGC20446; score == 155; expect == 2.4e-38; MEOW:HUgn0220002 (44%) |species == Worm; gene == F55H2.5; score == 152; expect == 1.8e-37; MEOW:CEgn0012006 (36%) } # EOR GENR { RETE|ID 1 HUgn0001535 CHR 1 16 DID 1 LocusLink:1535 MAP 1 16q24 NAM 1 cytochrome b-245, alpha polypeptide ORG 1 Homo sapiens SYM 1 CYBA ID|HUgn0001535 DID|LocusLink:1535 ORG|Homo sapiens RSQ|REFSEQ:NM_000101 RPA|REFPROT:NP_000092 DBA|XM:NM_000101 |NA:M61106 |NA:M61107 |NA:M62817 |NA:M62818 |NA:BC006465 |NA:BC011565 |NA:BC028224 |NA:BC033739 |NA:M21186 |NA:none PAC|XP:NP_000092 SYM|CYBA NAM|cytochrome b-245, alpha polypeptide FNC|flavocytochrome b-558 alpha polypeptide REAB|Cytochrome b is composed of cytochrome b alpha (CYBA; flavocytochrome b-558) and |beta (CYBB; flavocytochrome b-245) chain. It has been proposed as a primary component |of the microbicidal oxidase system of phagocytes. CYBA deficiency is associated |with chronic granulomatous disease (CGD). In this disorder, there is decreased activity |of phagocyte NADPH oxidats; neutrophils are able to phagocytize bacteria but cannot |kill them in the phagocytic vacuoles. The cause of the killing defect is an inability |to increase the cell's respiration and consequent failure to deliver activated oxygen |into the phagocytic vacuole. CHR|16 PRD|p22-phox |alpha-subunit of cytochrome b(558) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=68877 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1535[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125238 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000101 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000101 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=68877 |http://www.geneclinics.org/query?mim=233690 DBL|UNIGENE:Hs.68877 |OMIM:233690 |SNP:1535 MAP|16q24 PHP|Chronic granulomatous disease, autosomal, due to deficiency of CYBA HG|species == rat; score == 316; expect == 4.2e-87; MEOW:ref|NP_077074.1| (89%) |species == Mouse; gene == Cyba; score == 303; expect == 3.7e-83; MEOW:MGgn0001781 (86%) } # EOR GENR { RETE|ID 1 HUgn0001536 CHR 1 X DID 1 LocusLink:1536 MAP 1 Xp21.1 NAM 1 cytochrome b-245, beta polypeptide (chronic granulomatous disease) ORG 1 Homo sapiens SYM 1 CYBB ID|HUgn0001536 DID|LocusLink:1536 ORG|Homo sapiens RSQ|REFSEQ:NM_000397 RPA|REFPROT:NP_000388 DBA|XM:NM_000397 |NA:X05895 |NA:BC032720 |NA:S67289 |NA:X04011 |NA:none PAC|XP:NP_000388 SYM|CYBB NAM|cytochrome b-245, beta polypeptide (chronic granulomatous disease) SYN|CGD |NOX2 |GP91-1 |GP91PHOX |GP91-PHOX FNC|cytochrome b-245, beta polypeptide (chronic granulomatous disease) |electron transport ; GO:0006118 |energy pathways ; GO:0006091 |inflammatory response ; GO:0006954 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. |It has been proposed as a primary component of the microbicidal oxidase system of |phagocytes. CYBB deficiency is one of five described biochemical defects associated |with chronic granulomatous disease (CGD). In this disorder, there is decreased activity |of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot |kill them in the phagocytic vacuoles. The cause of the killing defect is an inability |to increase the cell's respiration and consequent failure to deliver activated oxygen |into the phagocytic vacuole. CHR|X PRD|gp91-phox URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=88974 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1536[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120513 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000397 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000397 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=88974 |http://www.geneclinics.org/query?mim=306400 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27076 DBL|UNIGENE:Hs.88974 |OMIM:306400 |SNP:1536 |UWCM:120513.html |IXDB:534001 MAP|Xp21.1 PHP|Chronic granulomatous disease, X-linked ENZ|voltage-gated ion channel activity ; GO:0005244 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cybb; score == 1035; expect == 0.0; MEOW:MGgn0001782 (92%) |species == rat; score == 1032; expect == 0.0; MEOW:ref|NP_076455.1| (92%) |species == Human; gene == NOX3; score == 714; expect == 0.0; MEOW:HUgn0050508 (58%) |species == Human; gene == NOX1; score == 651; expect == 0.0; MEOW:HUgn0027035 (58%) |species == Weed; gene == RbohC; score == 283; expect == 3.1e-76; MEOW:ATgn0024488 (31%) |species == Weed; gene == RbohE; score == 280; expect == 3.5e-75; MEOW:ATgn0000818 (31%) |species == rice; score == 277; expect == 1.4e-74; MEOW:gnl|TIGR|8350.m04952 (30%) |species == rice; score == 271; expect == 9.9e-73; MEOW:gnl|TIGR|8353.m04018 (30%) |species == Weed; gene == At4g25090; score == 270; expect == 2.5e-72; MEOW:ATgn0019717 (30%) |species == Weed; gene == RbohF; score == 266; expect == 5.4e-71; MEOW:ATgn0001539 (30%) |species == Weed; gene == RbohD; score == 260; expect == 2.2e-69; MEOW:ATgn0021108 (30%) |species == Weed; gene == RbohA; score == 256; expect == 4.1e-68; MEOW:ATgn0021323 (28%) |species == Weed; gene == RbohB; score == 255; expect == 4.1e-68; MEOW:ATgn0002974 (30%) |species == rice; score == 252; expect == 7.7e-67; MEOW:gnl|TIGR|8350.m05802 (29%) |species == Weed; gene == At4g11230; score == 246; expect == 3.4e-65; MEOW:ATgn0018290 (27%) |species == rice; score == 241; expect == 1.9e-63; MEOW:gnl|TIGR|8358.m02539 (28%) |species == Fruitfly; gene == CG3131; score == 204; expect == 4.1e-52; MEOW:FBgn0031464 (27%) |species == Mosquito; score == 193; expect == 5.5e-49; MEOW:AGgn0006017 (24%) |species == Worm; gene == F56C11.1; score == 174; expect == 3.5e-43; MEOW:CEgn0012079 (25%) |species == Worm; gene == F53G12.3; score == 172; expect == 1.0e-42; MEOW:CEgn0011673 (25%) } # EOR GENR { RETE|ID 1 HUgn0001537 CHR 1 8 DID 1 LocusLink:1537 MAP 1 8q24.3 NAM 1 cytochrome c-1 ORG 1 Homo sapiens SYM 1 CYC1 ID|HUgn0001537 DID|LocusLink:1537 ORG|Homo sapiens RSQ|REFSEQ:NM_001916 RPA|REFPROT:NP_001907 DBA|XM:NM_001916 |NA:J04444 |NA:AK026633 |NA:BC001006 |NA:BC015616 |NA:BC020566 |NA:BC024650 |NA:BC033076 |NA:M16597 |NA:X06994 |NA:none PAC|XP:NP_001907 SYM|CYC1 NAM|cytochrome c-1 FNC|cytochrome c-1 |electron transport ; GO:0006118 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=289271 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1537[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119827 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001916 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001916 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=289271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03140 DBL|UNIGENE:Hs.289271 |OMIM:123980 |SNP:1537 MAP|8q24.3 ENZ|cytochrome c ; GO:0009461 |electron transporter activity ; GO:0005489 CEL|mitochondrial electron transport chain ; GO:0005746 |mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cyc1; score == 482; expect == 9e-137; MEOW:MGgn0020721 (90%) |species == rat; score == 480; expect == 4e-136; MEOW:ref|XP_216944.2| (92%) |species == Mosquito; gene == LOC21712; score == 333; expect == 5.6e-92; MEOW:AGgn0021712 (66%) |species == Fruitfly; gene == CG4769; score == 319; expect == 6.7e-88; MEOW:FBgn0035600 (58%) |species == Fruitfly; gene == CG14508; score == 304; expect == 5.3e-83; MEOW:FBgn0039651 (59%) |species == rice; score == 300; expect == 2.3e-81; MEOW:gnl|TIGR|8353.m01968 (60%) |species == Yeast; gene == CYT1; score == 298; expect == 3.3e-81; MEOW:SGgn0005591 (57%) |species == Weed; gene == At5g40810; score == 292; expect == 1.5e-79; MEOW:ATgn0021361 (61%) |species == Weed; gene == At3g27240; score == 291; expect == 3.3e-79; MEOW:ATgn0012949 (61%) |species == Worm; gene == C54G4.8; score == 249; expect == 1.3e-66; MEOW:CEgn0007127 (51%) } # EOR GENR { RETE|ID 1 HUgn0001538 CHR 1 X DID 1 LocusLink:1538 MAP 1 Xq21.1 NAM 1 cylicin, basic protein of sperm head cytoskeleton 1 ORG 1 Homo sapiens SYM 1 CYLC1 ID|HUgn0001538 DID|LocusLink:1538 ORG|Homo sapiens DBA|XM:XM_088636 |NA:BC021669 |NA:BC038787 |NA:Z22780 |NA:none PAC|XP:XP_088636 SYM|CYLC1 NAM|cylicin, basic protein of sperm head cytoskeleton 1 SYN|CYCL1 CHR|X PRD|cylicin 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444230 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1538[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:226484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=Z22780 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=Z22780 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=444230 DBL|UNIGENE:Hs.444230 |OMIM:603121 |SNP:1538 MAP|Xq21.1 ENZ|structural molecule activity ; GO:0005198 FNC|spermatogenesis ; GO:0007283 CEL|cytoskeleton ; GO:0005856 } # EOR GENR { RETE|ID 1 HUgn0001539 CHR 1 9 DID 1 LocusLink:1539 MAP 1 9q31.2 NAM 1 cylicin, basic protein of sperm head cytoskeleton 2 ORG 1 Homo sapiens SYM 1 CYLC2 ID|HUgn0001539 DID|LocusLink:1539 ORG|Homo sapiens RSQ|REFSEQ:NM_001340 RPA|REFPROT:NP_001331 DBA|XM:NM_001340 |NA:Z46788 |NA:none PAC|XP:NP_001331 SYM|CYLC2 NAM|cylicin, basic protein of sperm head cytoskeleton 2 FNC|cylicin 2 |spermatogenesis ; GO:0007283 REAB|Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal |calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis |of the sperm head. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3232 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1539[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837210 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001340 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001340 DBL|UNIGENE:Hs.3232 |OMIM:604035 |SNP:1539 MAP|9q31.2 ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|cytoskeleton ; GO:0005856 HG|species == Mouse; gene == 4930488P18Rik; score == 148; expect == 2.5e-36; MEOW:MGgn0023951 (60%) } # EOR GENR { RETE|ID 1 HUgn0001540 CHR 1 16 DID 1 LocusLink:1540 MAP 1 16q12-q13 NAM 1 cylindromatosis (turban tumor syndrome) ORG 1 Homo sapiens SYM 1 CYLD ID|HUgn0001540 DID|LocusLink:1540 ORG|Homo sapiens RSQ|REFSEQ:NM_015247 RPA|REFPROT:NP_056062 DBA|XM:NM_015247 |NA:AB020656 |NA:AF161542 |NA:AJ250014 |NA:AK024212 |NA:AK024348 |NA:BC012342 PAC|XP:NP_056062 SYM|CYLD NAM|cylindromatosis (turban tumor syndrome) SYN|EAC |CDMT |CYLD1 |HSPC057 |KIAA0849 FNC|cylindromatosis (turban tumor syndrome) CHR|16 PRD|cylindromatosis 1, turban tumor syndrome URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386952 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1540[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:701216 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015247 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015247 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=386952 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0849 |http://www.icr.ac.uk/cyld/ DBL|UNIGENE:Hs.386952 |OMIM:605018 |SNP:1540 MAP|16q12-q13 PHP|Cylindromatosis, familial HG|species == Mouse; gene == Cyld; score == 1842; expect == 0.0; MEOW:MGgn0019019 (94%) |species == rat; score == 1807; expect == 0.0; MEOW:ref|XP_232642.2| (92%) |species == Mosquito; gene == LOC19295; score == 437; expect == 1e-122; MEOW:AGgn0019295 (47%) |species == Fruitfly; gene == CG5603; score == 431; expect == 7e-121; MEOW:FBgn0032210 (45%) |species == Worm; gene == F40F12.5a; score == 180; expect == 2.7e-45; MEOW:CEgn0010485 (28%) } # EOR GENR { RETE|ID 1 HUgn0001541 CHR 1 7 DID 1 LocusLink:1541 MAP 1 7p21-p15 NAM 1 cystoid macular dystrophy ORG 1 Homo sapiens SYM 1 CYMD ID|HUgn0001541 DID|LocusLink:1541 ORG|Homo sapiens SYM|CYMD NAM|cystoid macular dystrophy SYN|DCMD CHR|7 MAP|7p21-p15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:366594 } # EOR GENR { RETE|ID 1 HUgn0001542 CHR 1 1 DID 1 LocusLink:1542 MAP 1 1 NAM 1 chymosin pseudogene ORG 1 Homo sapiens SYM 1 CYMP ID|HUgn0001542 DID|LocusLink:1542 CLA|Pseudogene ORG|Homo sapiens SYM|CYMP NAM|chymosin pseudogene CHR|1 DBL|OMIM:118943 MAP|1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127813 } # EOR GENR { RETE|ID 1 HUgn0001543 CHR 1 15 DID 1 LocusLink:1543 MAP 1 15q22-q24 NAM 1 cytochrome P450, family 1, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP1A1 ID|HUgn0001543 DID|LocusLink:1543 ORG|Homo sapiens RSQ|REFSEQ:NM_000499 RPA|REFPROT:NP_000490 DBA|XM:NM_000499 |NA:D10855 |NA:X02612 |NA:X04300 |NA:AF040259 |NA:BC023019 |NA:K03191 |NA:M12079 |NA:none PAC|XP:NP_000490 SYM|CYP1A1 NAM|cytochrome P450, family 1, subfamily A, polypeptide 1 SYN|AHH |AHRR |CP11 |CYP1 |P1-450 |P450-C |P450DX FNC|cytochrome P450, family 1, subfamily A, polypeptide 1 |electron transport ; GO:0006118 REAB|This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |protein localizes to the endoplasmic reticulum and its expression is induced by |some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette |smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize |some PAHs to carcinogenic intermediates. The gene has been associated with lung |cancer risk. A related family member, CYP1A2, is located approximately 25 kb away |from CYP1A1 on chromosome 15. CHR|15 PRD|P450 form 6 |microsomal monooxygenase |xenobiotic monooxygenase |aryl hydrocarbon hydroxylase |flavoprotein-linked monooxygenase |cytochrome P1-450, dioxin-inducible |cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72912 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1543[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120604 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000499 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000499 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=72912 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://archive.uwcm.ac.uk/uwcm/mg/search/120604.html DBL|UNIGENE:Hs.72912 |OMIM:108330 |SNP:1543 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|15q22-q24 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Cyp1a1; score == 859; expect == 0.0; MEOW:MGgn0001800 (80%) |species == rat; score == 852; expect == 0.0; MEOW:ref|NP_036672.1| (79%) |species == Human; gene == CYP1A2; score == 758; expect == 0.0; MEOW:HUgn0001544 (73%) |species == Mouse; gene == Cyp1a2; score == 705; expect == 0.0; MEOW:MGgn0001801 (68%) |species == rat; score == 695; expect == 0.0; MEOW:ref|NP_036673.2| (68%) |species == Zfish; gene == cyp1a1; score == 610; expect == 3e-176; MEOW:ZFgn0002393 (57%) |species == Fruitfly; gene == Cyp18a1; score == 251; expect == 5.2e-67; MEOW:FBgn0010383 (31%) |species == chimp; score == 249; expect == 4.7e-68; MEOW:sp|Q8HYN1|Q8HYN1 (33%) |species == Worm; gene == Y49C4A.9; score == 210; expect == 1.2e-54; MEOW:CEgn0025547 (29%) |species == rice; score == 206; expect == 7.2e-53; MEOW:gnl|TIGR|8362.m01188 (30%) |species == Weed; gene == At5g57220; score == 204; expect == 7.0e-53; MEOW:ATgn0023375 (29%) |species == Weed; gene == TT7; score == 203; expect == 2.8e-52; MEOW:ATgn0021861 (30%) |species == Worm; gene == C45H4.17; score == 203; expect == 1.9e-52; MEOW:CEgn0006559 (28%) |species == Worm; gene == F41B5.2; score == 203; expect == 1.9e-52; MEOW:CEgn0010541 (29%) |species == Worm; gene == C45H4.2; score == 202; expect == 3.3e-52; MEOW:CEgn0006545 (29%) |species == Worm; gene == C50H11.15; score == 199; expect == 1.6e-51; MEOW:CEgn0006932 (30%) |species == Weed; gene == At2g45570; score == 197; expect == 1.5e-50; MEOW:ATgn0010010 (30%) |species == Worm; gene == F41B5.4; score == 196; expect == 2.3e-50; MEOW:CEgn0010543 (29%) |species == rice; score == 196; expect == 7.5e-50; MEOW:gnl|TIGR|8354.m03815 (30%) |species == Weed; gene == At1g01280; score == 195; expect == 5.8e-50; MEOW:ATgn0002302 (28%) |species == Weed; gene == FAH1; score == 195; expect == 5.8e-50; MEOW:ATgn0017296 (27%) |species == Worm; gene == K09A11.4; score == 195; expect == 4.0e-50; MEOW:CEgn0013606 (28%) |species == Worm; gene == F41B5.3; score == 194; expect == 5.2e-50; MEOW:CEgn0010542 (28%) |species == Worm; gene == F44C8.1; score == 194; expect == 6.8e-50; MEOW:CEgn0010812 (29%) |species == Mosquito; gene == LOC18707; score == 191; expect == 4.7e-49; MEOW:AGgn0018707 (30%) |species == rice; score == 191; expect == 1.8e-48; MEOW:gnl|TIGR|8359.m01593 (29%) |species == Worm; gene == R08F11.3; score == 190; expect == 1.3e-48; MEOW:CEgn0014649 (29%) |species == Weed; gene == At2g45560; score == 186; expect == 2.1e-47; MEOW:ATgn0010008 (28%) |species == rice; score == 186; expect == 5.9e-47; MEOW:gnl|TIGR|8362.m01215 (27%) |species == Weed; gene == At1g33720; score == 184; expect == 1.3e-46; MEOW:ATgn0003152 (27%) |species == Weed; gene == At1g13110; score == 183; expect == 1.7e-46; MEOW:ATgn0001115 (28%) |species == Weed; gene == At2g45550; score == 183; expect == 3.0e-46; MEOW:ATgn0010006 (27%) |species == rice; score == 183; expect == 5.0e-46; MEOW:gnl|TIGR|8356.m00263 (27%) |species == Mosquito; gene == LOC21702; score == 180; expect == 1.1e-45; MEOW:AGgn0021702 (26%) |species == rice; score == 180; expect == 4.2e-45; MEOW:gnl|TIGR|8353.m03686 (29%) |species == Mosquito; gene == LOC1701; score == 179; expect == 2.4e-45; MEOW:AGgn0001701 (26%) |species == Weed; gene == At5g25120; score == 177; expect == 1.6e-44; MEOW:ATgn0023507 (28%) |species == Weed; gene == At3g26300; score == 176; expect == 2.7e-44; MEOW:ATgn0012070 (29%) |species == rice; score == 176; expect == 8.0e-44; MEOW:gnl|TIGR|8356.m04234 (26%) |species == rice; score == 176; expect == 4.7e-44; MEOW:gnl|TIGR|8360.m01281 (28%) |species == rice; score == 174; expect == 3.0e-43; MEOW:gnl|TIGR|8351.m02475 (29%) |species == rice; score == 173; expect == 5.2e-43; MEOW:gnl|TIGR|8351.m02479 (29%) |species == Mosquito; score == 170; expect == 8.5e-43; MEOW:AGgn0000677 (27%) |species == Mosquito; gene == LOC24507; score == 170; expect == 1.1e-42; MEOW:AGgn0024507 (28%) |species == Mosquito; score == 167; expect == 5.5e-42; MEOW:AGgn0025243 (27%) |species == Weed; gene == At5g04630; score == 166; expect == 2.9e-41; MEOW:ATgn0024747 (26%) |species == Weed; gene == At4g13770; score == 165; expect == 6.2e-41; MEOW:ATgn0018680 (28%) |species == Weed; gene == At5g06900; score == 165; expect == 4.8e-41; MEOW:ATgn0026428 (27%) |species == Weed; gene == At4g37430; score == 164; expect == 1.4e-40; MEOW:ATgn0018545 (26%) |species == Mosquito; score == 161; expect == 5.2e-40; MEOW:AGgn0005415 (26%) |species == Mosquito; score == 154; expect == 4.8e-38; MEOW:AGgn0003135 (27%) } # EOR GENR { RETE|ID 1 HUgn0001544 CHR 1 15 DID 1 LocusLink:1544 MAP 1 15q22-qter NAM 1 cytochrome P450, family 1, subfamily A, polypeptide 2 ORG 1 Homo sapiens SYM 1 CYP1A2 ID|HUgn0001544 DID|LocusLink:1544 ORG|Homo sapiens RSQ|REFSEQ:NM_000761 RPA|REFPROT:NP_000752 DBA|XM:NM_000761 |NA:L00389 |NA:M31667 |NA:AF182274 |NA:M12078 |NA:M55053 |NA:Z00036 |NA:none PAC|XP:NP_000752 SYM|CYP1A2 NAM|cytochrome P450, family 1, subfamily A, polypeptide 2 SYN|CP12 |P3-450 |P450(PA) FNC|cytochrome P450, family 1, subfamily A, polypeptide 2 |electron transport ; GO:0006118 REAB|This gene, CYP1A2, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. The |protein encoded by this gene localizes to the endoplasmic reticulum and its expression |is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found |in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is |able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates |for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript |from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated |region. A related family member, CYP1A1, is located approximately 25 kb away from |CYP1A2 on chromosome 15. CHR|15 PRD|P450 form 4 |dioxin-inducible P3-450 |microsomal monooxygenase |xenobiotic monooxygenase |aryl hydrocarbon hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1361 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1544[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118780 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000761 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000761 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27093 DBL|UNIGENE:Hs.1361 |OMIM:124060 |SNP:1544 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 |unspecific monooxygenase activity ; GO:0050381 MAP|15q22-qter CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 792; expect == 0.0; MEOW:ref|NP_036673.2| (74%) |species == Mouse; gene == Cyp1a2; score == 775; expect == 0.0; MEOW:MGgn0001801 (72%) |species == Human; gene == CYP1A1; score == 758; expect == 0.0; MEOW:HUgn0001543 (73%) |species == Mouse; gene == Cyp1a1; score == 724; expect == 0.0; MEOW:MGgn0001800 (69%) |species == rat; score == 712; expect == 0.0; MEOW:ref|NP_036672.1| (68%) |species == Zfish; gene == cyp1a1; score == 536; expect == 1e-152; MEOW:ZFgn0002393 (54%) |species == chimp; score == 226; expect == 3.0e-59; MEOW:sp|Q8HYN1|Q8HYN1 (30%) |species == Fruitfly; gene == Cyp18a1; score == 202; expect == 2.1e-52; MEOW:FBgn0010383 (29%) |species == Weed; gene == At5g57220; score == 185; expect == 4.4e-47; MEOW:ATgn0023375 (27%) |species == Weed; gene == At1g01280; score == 182; expect == 5.0e-46; MEOW:ATgn0002302 (28%) |species == Weed; gene == TT7; score == 176; expect == 2.8e-44; MEOW:ATgn0021861 (29%) |species == Worm; gene == K09A11.4; score == 176; expect == 2.5e-44; MEOW:CEgn0013606 (30%) |species == Worm; gene == Y49C4A.9; score == 176; expect == 2.5e-44; MEOW:CEgn0025547 (29%) |species == Weed; gene == At5g06900; score == 171; expect == 6.8e-43; MEOW:ATgn0026428 (29%) |species == rice; score == 169; expect == 2.7e-42; MEOW:gnl|TIGR|8360.m04927 (27%) |species == Weed; gene == FAH1; score == 167; expect == 1.0e-41; MEOW:ATgn0017296 (25%) |species == Weed; gene == At4g37360; score == 167; expect == 1.2e-41; MEOW:ATgn0018492 (26%) |species == Worm; gene == C45H4.17; score == 167; expect == 9.0e-42; MEOW:CEgn0006559 (27%) |species == Worm; gene == C50H11.15; score == 167; expect == 9.0e-42; MEOW:CEgn0006932 (28%) |species == Mosquito; gene == LOC21702; score == 166; expect == 2.1e-41; MEOW:AGgn0021702 (27%) |species == Weed; gene == At1g33720; score == 166; expect == 2.9e-41; MEOW:ATgn0003152 (28%) |species == Weed; gene == At3g26160; score == 166; expect == 2.8e-41; MEOW:ATgn0012017 (29%) |species == Worm; gene == F41B5.4; score == 166; expect == 1.5e-41; MEOW:CEgn0010543 (28%) |species == Worm; gene == K09A11.3; score == 166; expect == 1.5e-41; MEOW:CEgn0013605 (29%) |species == Mosquito; score == 165; expect == 3.6e-41; MEOW:AGgn0025243 (28%) |species == Mosquito; gene == LOC18707; score == 164; expect == 1.1e-40; MEOW:AGgn0018707 (28%) |species == Worm; gene == F41B5.7; score == 164; expect == 9.9e-41; MEOW:CEgn0010546 (27%) |species == rice; score == 164; expect == 1.9e-40; MEOW:gnl|TIGR|8356.m04234 (27%) |species == rice; score == 164; expect == 3.2e-40; MEOW:gnl|TIGR|8362.m01188 (28%) |species == Mosquito; score == 162; expect == 1.8e-40; MEOW:AGgn0000677 (27%) |species == Weed; gene == At2g45570; score == 162; expect == 5.4e-40; MEOW:ATgn0010010 (29%) |species == Weed; gene == At4g37430; score == 162; expect == 5.3e-40; MEOW:ATgn0018545 (25%) |species == Worm; gene == C45H4.2; score == 162; expect == 2.2e-40; MEOW:CEgn0006545 (29%) |species == Worm; gene == F41B5.2; score == 162; expect == 2.2e-40; MEOW:CEgn0010541 (27%) |species == Weed; gene == At4g12300; score == 161; expect == 7.1e-40; MEOW:ATgn0020380 (25%) |species == Weed; gene == At5g04630; score == 161; expect == 9.2e-40; MEOW:ATgn0024747 (26%) |species == Worm; gene == F44C8.1; score == 161; expect == 4.9e-40; MEOW:CEgn0010812 (27%) |species == rice; score == 161; expect == 2.4e-39; MEOW:gnl|TIGR|8356.m00263 (27%) |species == rice; score == 161; expect == 9.4e-40; MEOW:gnl|TIGR|8359.m01593 (28%) |species == Mosquito; score == 159; expect == 2.4e-39; MEOW:AGgn0005415 (27%) |species == Weed; gene == At4g37330; score == 159; expect == 3.4e-39; MEOW:ATgn0018490 (28%) |species == Weed; gene == At3g26300; score == 158; expect == 7.6e-39; MEOW:ATgn0012070 (25%) |species == Weed; gene == At2g45560; score == 157; expect == 1.0e-38; MEOW:ATgn0010008 (25%) |species == Weed; gene == At3g26320; score == 156; expect == 2.2e-38; MEOW:ATgn0012072 (26%) |species == rice; score == 156; expect == 6.6e-38; MEOW:gnl|TIGR|8350.m04669 (26%) |species == Mosquito; score == 155; expect == 2.9e-38; MEOW:AGgn0026398 (31%) |species == Mosquito; score == 154; expect == 8.3e-38; MEOW:AGgn0029250 (30%) |species == Weed; gene == At1g11600; score == 154; expect == 1.5e-37; MEOW:ATgn0006927 (26%) |species == Weed; gene == At3g26150; score == 154; expect == 1.1e-37; MEOW:ATgn0012015 (27%) |species == Weed; gene == At5g57260; score == 154; expect == 3.7e-37; MEOW:ATgn0023391 (26%) |species == Weed; gene == At3g26180; score == 153; expect == 2.5e-37; MEOW:ATgn0012024 (26%) |species == rice; score == 153; expect == 1.9e-37; MEOW:gnl|TIGR|8353.m03686 (25%) |species == Weed; gene == At1g13080; score == 152; expect == 3.2e-37; MEOW:ATgn0001107 (26%) |species == Weed; gene == At2g45550; score == 152; expect == 5.6e-37; MEOW:ATgn0010006 (25%) |species == Weed; gene == At4g37370; score == 152; expect == 4.2e-37; MEOW:ATgn0018497 (26%) |species == Mosquito; score == 151; expect == 7.1e-37; MEOW:AGgn0026791 (26%) |species == Weed; gene == At2g23220; score == 151; expect == 9.6e-37; MEOW:ATgn0007414 (26%) |species == Weed; gene == At4g37400; score == 151; expect == 9.3e-37; MEOW:ATgn0018528 (26%) |species == Weed; gene == At4g22710; score == 151; expect == 7.6e-37; MEOW:ATgn0020732 (25%) |species == Weed; gene == At5g67310; score == 151; expect == 7.2e-37; MEOW:ATgn0026477 (28%) |species == rice; score == 151; expect == 7.1e-37; MEOW:gnl|TIGR|8353.m02178 (28%) |species == Weed; gene == At3g26290; score == 150; expect == 2.1e-36; MEOW:ATgn0012068 (24%) |species == Weed; gene == At5g36220; score == 150; expect == 1.6e-36; MEOW:ATgn0022278 (25%) |species == rice; score == 150; expect == 1.6e-36; MEOW:gnl|TIGR|8357.m02325 (27%) |species == rice; score == 150; expect == 2.1e-36; MEOW:gnl|TIGR|8360.m01283 (25%) |species == Weed; gene == At3g26170; score == 149; expect == 3.5e-36; MEOW:ATgn0012021 (26%) |species == Weed; gene == At3g26200; score == 149; expect == 4.8e-36; MEOW:ATgn0012040 (25%) |species == Weed; gene == At3g26310; score == 149; expect == 4.6e-36; MEOW:ATgn0012071 (25%) |species == Weed; gene == At4g37340; score == 149; expect == 4.6e-36; MEOW:ATgn0018491 (25%) |species == Weed; gene == At5g25130; score == 149; expect == 2.8e-36; MEOW:ATgn0024128 (26%) |species == rice; score == 149; expect == 3.6e-36; MEOW:gnl|TIGR|8356.m03844 (26%) |species == Weed; gene == At4g22690; score == 148; expect == 6.9e-36; MEOW:ATgn0020728 (24%) |species == rice; score == 147; expect == 1.4e-35; MEOW:gnl|TIGR|8362.m01215 (27%) |species == Mosquito; gene == LOC14260; score == 146; expect == 1.8e-35; MEOW:AGgn0014260 (28%) |species == rice; score == 146; expect == 6.8e-35; MEOW:gnl|TIGR|8357.m02375 (27%) |species == rice; score == 144; expect == 3.4e-34; MEOW:gnl|TIGR|8357.m02326 (26%) |species == rice; score == 144; expect == 1.3e-34; MEOW:gnl|TIGR|8359.m03735 (26%) |species == rice; score == 140; expect == 1.7e-33; MEOW:gnl|TIGR|8356.m03850 (26%) |species == rice; score == 138; expect == 1.1e-32; MEOW:gnl|TIGR|8351.m03054 (27%) |species == rice; score == 137; expect == 1.1e-32; MEOW:gnl|TIGR|8359.m03106 (26%) } # EOR GENR { RETE|ID 1 HUgn0001545 CHR 1 2 DID 1 LocusLink:1545 MAP 1 2p21 NAM 1 cytochrome P450, family 1, subfamily B, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP1B1 ID|HUgn0001545 DID|LocusLink:1545 ORG|Homo sapiens RSQ|REFSEQ:NM_000104 RPA|REFPROT:NP_000095 DBA|XM:NM_000104 |NA:AF171066 |NA:U56438 |NA:BC012049 |NA:U03688 |NA:none PAC|XP:NP_000095 SYM|CYP1B1 NAM|cytochrome P450, family 1, subfamily B, polypeptide 1 SYN|CP1B |GLC3A FNC|cytochrome P450, family 1, subfamily B, polypeptide 1 |eye morphogenesis (sensu Drosophila) ; GO:0007456 |electron transport ; GO:0006118 |vision ; GO:0007601 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded |by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens |such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this |gene have been associated with primary congenital glaucoma; therefore it is thought |that the enzyme also metabolizes a signaling molecule involved in eye development, |possibly a steroid. CHR|2 PRD|microsomal monooxygenase |xenobiotic monooxygenase |aryl hydrocarbon hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154654 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1545[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:353515 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000104 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000104 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154654 |http://www.geneclinics.org/query?mim=601771 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27094 DBL|UNIGENE:Hs.154654 |OMIM:601771 |SNP:1545 |UWCM:rch/353515. |DRNELSON:CytochromeP450.html MAP|2p21 PHP|Glaucoma 3A, primary congenital |Glaucoma, early-onset, digenic |Peters anomaly ENZ|monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 |unspecific monooxygenase activity ; GO:0050381 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Cyp1b1; score == 817; expect == 0.0; MEOW:MGgn0001802 (81%) |species == rat; score == 477; expect == 8e-135; MEOW:ref|XP_346760.1| (78%) |species == Human; gene == CYP1A1; score == 367; expect == 1e-101; MEOW:HUgn0001543 (40%) |species == Zfish; gene == cyp1a1; score == 341; expect == 2.7e-95; MEOW:ZFgn0002393 (41%) |species == Human; gene == CYP1A2; score == 329; expect == 2.8e-90; MEOW:HUgn0001544 (39%) |species == Fruitfly; gene == Cyp18a1; score == 224; expect == 4.3e-59; MEOW:FBgn0010383 (33%) |species == chimp; score == 203; expect == 2.7e-52; MEOW:sp|Q8HYN1|Q8HYN1 (27%) |species == Worm; gene == C49C8.4; score == 194; expect == 7.3e-50; MEOW:CEgn0006771 (28%) |species == Worm; gene == F42A9.5; score == 186; expect == 2.6e-47; MEOW:CEgn0010646 (28%) |species == Worm; gene == K09A11.3; score == 184; expect == 5.8e-47; MEOW:CEgn0013605 (30%) |species == Worm; gene == K09A11.4; score == 183; expect == 2.2e-46; MEOW:CEgn0013606 (28%) |species == Worm; gene == C50H11.15; score == 179; expect == 2.4e-45; MEOW:CEgn0006932 (28%) |species == Worm; gene == K09A11.2; score == 178; expect == 5.4e-45; MEOW:CEgn0013604 (28%) |species == Worm; gene == C45H4.17; score == 176; expect == 2.0e-44; MEOW:CEgn0006559 (26%) |species == rice; score == 172; expect == 1.2e-42; MEOW:gnl|TIGR|8362.m01215 (27%) |species == Weed; gene == TT7; score == 169; expect == 3.7e-42; MEOW:ATgn0021861 (27%) |species == Mosquito; gene == LOC1701; score == 166; expect == 2.3e-41; MEOW:AGgn0001701 (28%) |species == Weed; gene == At4g12300; score == 164; expect == 1.4e-40; MEOW:ATgn0020380 (26%) |species == Worm; gene == C45H4.2; score == 164; expect == 6.2e-41; MEOW:CEgn0006545 (25%) |species == Worm; gene == Y49C4A.9; score == 164; expect == 8.0e-41; MEOW:CEgn0025547 (27%) |species == rice; score == 164; expect == 2.6e-40; MEOW:gnl|TIGR|8351.m02814 (29%) |species == Mosquito; score == 162; expect == 3.7e-40; MEOW:AGgn0005415 (26%) |species == rice; score == 162; expect == 1.3e-39; MEOW:gnl|TIGR|8354.m03815 (28%) |species == Worm; gene == C34B7.3; score == 161; expect == 8.9e-40; MEOW:CEgn0005938 (28%) |species == rice; score == 161; expect == 2.2e-39; MEOW:gnl|TIGR|8362.m01188 (26%) |species == rice; score == 158; expect == 1.9e-38; MEOW:gnl|TIGR|8351.m02475 (30%) |species == Mosquito; gene == LOC14260; score == 157; expect == 1.3e-38; MEOW:AGgn0014260 (27%) |species == Mosquito; score == 157; expect == 9.9e-39; MEOW:AGgn0026791 (25%) |species == Weed; gene == At2g45550; score == 157; expect == 1.1e-38; MEOW:ATgn0010006 (27%) |species == Weed; gene == FAH1; score == 157; expect == 1.1e-38; MEOW:ATgn0017296 (27%) |species == rice; score == 157; expect == 4.1e-38; MEOW:gnl|TIGR|8351.m02479 (30%) |species == rice; score == 157; expect == 4.1e-38; MEOW:gnl|TIGR|8357.m02325 (27%) |species == rice; score == 157; expect == 2.4e-38; MEOW:gnl|TIGR|8360.m04925 (28%) |species == rice; score == 157; expect == 3.2e-38; MEOW:gnl|TIGR|8360.m04926 (27%) |species == Mosquito; gene == LOC18707; score == 156; expect == 2.3e-38; MEOW:AGgn0018707 (26%) |species == Weed; gene == At4g12310; score == 156; expect == 2.5e-38; MEOW:ATgn0020384 (24%) |species == Mosquito; gene == LOC21702; score == 154; expect == 8.9e-38; MEOW:AGgn0021702 (28%) |species == Weed; gene == At1g33720; score == 154; expect == 1.5e-37; MEOW:ATgn0003152 (24%) |species == rice; score == 154; expect == 2.0e-37; MEOW:gnl|TIGR|8360.m00116 (29%) |species == Mosquito; score == 153; expect == 1.2e-37; MEOW:AGgn0000677 (27%) |species == Weed; gene == At2g45570; score == 152; expect == 4.6e-37; MEOW:ATgn0010010 (27%) |species == Weed; gene == At2g45560; score == 151; expect == 7.9e-37; MEOW:ATgn0010008 (26%) |species == rice; score == 151; expect == 1.2e-36; MEOW:gnl|TIGR|8353.m03686 (25%) |species == rice; score == 150; expect == 2.1e-36; MEOW:gnl|TIGR|8360.m01281 (27%) |species == Mosquito; score == 149; expect == 1.7e-36; MEOW:AGgn0025243 (27%) |species == Weed; gene == CYP79A2; score == 149; expect == 2.9e-36; MEOW:ATgn0025363 (26%) |species == rice; score == 148; expect == 2.7e-35; MEOW:gnl|TIGR|8357.m02326 (27%) |species == Weed; gene == At3g26160; score == 147; expect == 1.0e-35; MEOW:ATgn0012017 (26%) |species == rice; score == 147; expect == 1.3e-35; MEOW:gnl|TIGR|8353.m02178 (28%) |species == Weed; gene == At4g37360; score == 146; expect == 3.9e-35; MEOW:ATgn0018492 (25%) |species == Weed; gene == At4g12330; score == 146; expect == 3.3e-35; MEOW:ATgn0020390 (25%) |species == Weed; gene == At5g44620; score == 146; expect == 4.3e-35; MEOW:ATgn0023937 (23%) |species == rice; score == 145; expect == 5.4e-35; MEOW:gnl|TIGR|8357.m02327 (26%) |species == Weed; gene == At2g46660; score == 144; expect == 1.2e-34; MEOW:ATgn0010704 (27%) |species == Weed; gene == At3g26300; score == 142; expect == 5.6e-34; MEOW:ATgn0012070 (24%) |species == Weed; gene == At5g04330; score == 142; expect == 6.3e-34; MEOW:ATgn0024695 (27%) |species == Mosquito; gene == LOC24507; score == 141; expect == 4.5e-34; MEOW:AGgn0024507 (26%) |species == Mosquito; score == 141; expect == 5.9e-34; MEOW:AGgn0029250 (30%) |species == rice; score == 141; expect == 7.4e-34; MEOW:gnl|TIGR|8356.m03844 (25%) |species == rice; score == 140; expect == 1.7e-33; MEOW:gnl|TIGR|8356.m03430 (26%) |species == rice; score == 140; expect == 1.6e-33; MEOW:gnl|TIGR|8360.m01283 (26%) |species == Weed; gene == At3g26150; score == 137; expect == 1.8e-32; MEOW:ATgn0012015 (24%) } # EOR GENR { RETE|ID 1 HUgn0001546 CHR 1 19 DID 1 LocusLink:1546 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily A ORG 1 Homo sapiens SYM 1 CYP2A ID|HUgn0001546 DID|LocusLink:1546 ORG|Homo sapiens DBA|NA:AC008537 |NA:AC008962 |NA:AC011510 |NA:AC011541 |NA:AC023172 |NA:AC092071 |NA:AC098779 SYM|CYP2A NAM|cytochrome P450, family 2, subfamily A SYN|CYP1 |CYP2 |P450C2 |P450PB |P450C2A REAB|The cytochrome P450 superfamily of enzymes are monooxygenases which catalyze many |reactions involved in drug metabolism and synthesis of cholesterol, steroids and |other lipids. The CYP2 gene cluster on chromosome 19q13.2 includes several genes |and pseudogenes from the CYP2A, CYP2B, and CYP2F subfamilies. CHR|19 PRD|cytochrome P450, subfamily IIA (phenobarbital-inducible) MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120607 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001548 CHR 1 19 DID 1 LocusLink:1548 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily A, polypeptide 6 ORG 1 Homo sapiens SYM 1 CYP2A6 ID|HUgn0001548 DID|LocusLink:1548 ORG|Homo sapiens RSQ|REFSEQ:NM_000762 RPA|REFPROT:NP_000753 DBA|XM:NM_000762 |NA:U22027 |NA:AF182275 |NA:M33318 |NA:X13897 |NA:X13929 |NA:none PAC|XP:NP_000753 SYM|CYP2A6 NAM|cytochrome P450, family 2, subfamily A, polypeptide 6 SYN|CPA6 |CYP2A |CYP2A3 |P450PB |P450C2A FNC|cytochrome P450, family 2, subfamily A, polypeptide 6 |electron transport ; GO:0006118 REAB|This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |protein localizes to the endoplasmic reticulum and its expression is induced by |phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes |nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with |certain allelic variants are said to have a poor metaboliser phenotype, meaning |they do not efficiently metabolize coumarin or nicotine. This gene is part of a |large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies |on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has |been renamed CYP2A6. CHR|19 PRD|coumarin 7-hydroxylase |xenobiotic monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 3 |cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439056 |http://www.gdb.org/gdb-bin/genera/accno?GDB:377803 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000762 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000762 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA121 DBL|UNIGENE:Hs.439056 |OMIM:122720 |SNP:1548 |UWCM:rch/377803. |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |coumarin 7-hydroxylase activity ; GO:0008389 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|19q13.2 PHP|Coumarin resistance |Nicotine addiction, protection from CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2A13; score == 905; expect == 0.0; MEOW:HUgn0001553 (93%) |species == Human; gene == CYP2A7; score == 904; expect == 0.0; MEOW:HUgn0001549 (93%) |species == Mouse; gene == Cyp2a5; score == 838; expect == 0.0; MEOW:MGgn0001811 (86%) |species == rat; score == 832; expect == 0.0; MEOW:ref|NP_036674.1| (86%) |species == Mouse; gene == Cyp2a4; score == 819; expect == 0.0; MEOW:MGgn0001810 (84%) |species == Mouse; gene == Cyp2a12; score == 673; expect == 0.0; MEOW:MGgn0001809 (70%) |species == Zfish; gene == cyp2ja; score == 351; expect == 6.0e-97; MEOW:ZFgn0002623 (39%) |species == Worm; gene == C50H11.15; score == 254; expect == 7.7e-68; MEOW:CEgn0006932 (33%) |species == Worm; gene == C49C8.4; score == 248; expect == 3.8e-66; MEOW:CEgn0006771 (33%) |species == Worm; gene == K05D4.4; score == 245; expect == 6.1e-65; MEOW:CEgn0013272 (32%) |species == Worm; gene == K09A11.3; score == 245; expect == 6.1e-65; MEOW:CEgn0013605 (33%) |species == Worm; gene == C34B7.3; score == 240; expect == 1.5e-63; MEOW:CEgn0005938 (32%) |species == Worm; gene == K09A11.2; score == 239; expect == 3.3e-63; MEOW:CEgn0013604 (32%) |species == Worm; gene == C45H4.17; score == 238; expect == 5.7e-63; MEOW:CEgn0006559 (30%) |species == Worm; gene == B0213.16; score == 232; expect == 3.2e-61; MEOW:CEgn0003234 (30%) |species == Worm; gene == F41B5.7; score == 231; expect == 4.9e-61; MEOW:CEgn0010546 (29%) |species == Worm; gene == C45H4.2; score == 229; expect == 2.0e-60; MEOW:CEgn0006545 (29%) |species == Worm; gene == F42A9.5; score == 229; expect == 1.8e-60; MEOW:CEgn0010646 (31%) |species == Worm; gene == F44C8.1; score == 229; expect == 3.5e-60; MEOW:CEgn0010812 (30%) |species == Worm; gene == F41B5.3; score == 227; expect == 1.0e-59; MEOW:CEgn0010542 (32%) |species == Worm; gene == B0213.15; score == 224; expect == 6.6e-59; MEOW:CEgn0003233 (30%) |species == Worm; gene == F41B5.4; score == 223; expect == 1.5e-58; MEOW:CEgn0010543 (30%) |species == Worm; gene == K09A11.4; score == 223; expect == 1.3e-58; MEOW:CEgn0013606 (32%) |species == Worm; gene == T10H4.11; score == 222; expect == 4.3e-58; MEOW:CEgn0016020 (31%) |species == Worm; gene == B0213.14; score == 221; expect == 5.6e-58; MEOW:CEgn0003232 (29%) |species == Worm; gene == C25E10.2; score == 219; expect == 3.6e-57; MEOW:CEgn0005346 (29%) |species == Fruitfly; gene == Cyp18a1; score == 219; expect == 2.1e-57; MEOW:FBgn0010383 (29%) |species == Worm; gene == R08F11.3; score == 215; expect == 5.2e-56; MEOW:CEgn0014649 (31%) |species == Worm; gene == B0213.10; score == 213; expect == 1.5e-55; MEOW:CEgn0003229 (28%) |species == Worm; gene == F41B5.2; score == 213; expect == 1.4e-55; MEOW:CEgn0010541 (29%) |species == Worm; gene == B0213.12; score == 210; expect == 1.7e-54; MEOW:CEgn0003231 (30%) |species == Worm; gene == B0213.11; score == 209; expect == 3.8e-54; MEOW:CEgn0003230 (29%) |species == Worm; gene == T10H4.10; score == 206; expect == 2.5e-53; MEOW:CEgn0016019 (31%) |species == Worm; gene == K07C6.3; score == 204; expect == 9.2e-53; MEOW:CEgn0013398 (30%) |species == Mosquito; score == 194; expect == 6.9e-50; MEOW:AGgn0000677 (31%) |species == Mosquito; score == 194; expect == 4.1e-50; MEOW:AGgn0025243 (31%) |species == Mosquito; gene == LOC18707; score == 185; expect == 3.2e-47; MEOW:AGgn0018707 (30%) |species == chimp; score == 182; expect == 8.8e-48; MEOW:sp|Q8HYN1|Q8HYN1 (28%) |species == Mosquito; gene == LOC21702; score == 181; expect == 4.6e-46; MEOW:AGgn0021702 (29%) |species == Mosquito; score == 180; expect == 7.9e-46; MEOW:AGgn0029250 (31%) |species == Fruitfly; gene == Cyp303a1; score == 177; expect == 1.2e-44; MEOW:FBgn0001992 (27%) |species == Mosquito; score == 165; expect == 3.4e-41; MEOW:AGgn0003135 (26%) |species == Mosquito; score == 164; expect == 4.5e-41; MEOW:AGgn0026398 (31%) |species == Weed; gene == At1g33720; score == 161; expect == 1.2e-39; MEOW:ATgn0003152 (28%) |species == Mosquito; gene == LOC24507; score == 156; expect == 2.1e-38; MEOW:AGgn0024507 (26%) |species == rice; score == 144; expect == 9.2e-35; MEOW:gnl|TIGR|8362.m02286 (27%) |species == Weed; gene == At5g67310; score == 142; expect == 3.4e-34; MEOW:ATgn0026477 (28%) |species == rice; score == 142; expect == 3.4e-34; MEOW:gnl|TIGR|8357.m02325 (25%) |species == Weed; gene == At2g45550; score == 140; expect == 1.6e-33; MEOW:ATgn0010006 (25%) |species == Weed; gene == At2g45560; score == 140; expect == 1.6e-33; MEOW:ATgn0010008 (26%) |species == Weed; gene == At4g37430; score == 139; expect == 3.7e-33; MEOW:ATgn0018545 (25%) |species == rice; score == 137; expect == 1.8e-32; MEOW:gnl|TIGR|8351.m03054 (27%) |species == rice; score == 137; expect == 1.1e-32; MEOW:gnl|TIGR|8352.m02460 (25%) |species == rice; score == 136; expect == 8.8e-32; MEOW:gnl|TIGR|8351.m03392 (27%) |species == Weed; gene == CA4H; score == 134; expect == 1.5e-31; MEOW:ATgn0007898 (24%) |species == Weed; gene == At4g12300; score == 134; expect == 1.5e-31; MEOW:ATgn0020380 (23%) |species == Weed; gene == At2g45570; score == 133; expect == 2.0e-31; MEOW:ATgn0010010 (26%) |species == Weed; gene == At5g57220; score == 133; expect == 2.6e-31; MEOW:ATgn0023375 (24%) |species == rice; score == 133; expect == 5.7e-31; MEOW:gnl|TIGR|8351.m02475 (24%) |species == Weed; gene == At3g48290; score == 132; expect == 5.7e-31; MEOW:ATgn0028512 (27%) |species == rice; score == 131; expect == 8.0e-31; MEOW:gnl|TIGR|8362.m02287 (25%) } # EOR GENR { RETE|ID 1 HUgn0001549 CHR 1 19 DID 1 LocusLink:1549 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily A, polypeptide 7 ORG 1 Homo sapiens SYM 1 CYP2A7 ID|HUgn0001549 DID|LocusLink:1549 ORG|Homo sapiens RSQ|REFSEQ:NM_000764 |REFSEQ:NM_030589 RPA|REFPROT:NP_000755 |REFPROT:NP_085079 DBA|XM:NM_000764 |XM:NM_030589 |NA:M33317 |NA:U22029 |NA:none PAC|XP:NP_000755 |XP:NP_085079 SYM|CYP2A7 NAM|cytochrome P450, family 2, subfamily A, polypeptide 7 SYN|CPA7 |CPAD |CYPIIA7 |P450-IIA4 FNC|cytochrome P450, family 2, subfamily A, polypeptide 7 isoform 1 |cytochrome P450, family 2, subfamily A, polypeptide 7 isoform 2 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum; its substrate has not yet been determined. |This gene, which produces two transcript variants, is part of a large cluster of |cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome |19q. CHR|19 PRD|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=250615 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698178 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000764 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000764 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.250615 |OMIM:608054 |SNP:1549 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|19q13.2 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2A6; score == 904; expect == 0.0; MEOW:HUgn0001548 (93%) |species == Human; gene == CYP2A13; score == 879; expect == 0.0; MEOW:HUgn0001553 (91%) |species == rat; score == 818; expect == 0.0; MEOW:ref|NP_036674.1| (84%) |species == Mouse; gene == Cyp2a5; score == 816; expect == 0.0; MEOW:MGgn0001811 (83%) |species == Mouse; gene == Cyp2a4; score == 800; expect == 0.0; MEOW:MGgn0001810 (82%) |species == Mouse; gene == Cyp2a12; score == 674; expect == 0.0; MEOW:MGgn0001809 (70%) |species == rat; score == 661; expect == 0.0; MEOW:ref|NP_036824.1| (69%) |species == Zfish; gene == cyp2ja; score == 361; expect == 2e-101; MEOW:ZFgn0002623 (41%) |species == Worm; gene == C49C8.4; score == 259; expect == 1.6e-69; MEOW:CEgn0006771 (34%) |species == Worm; gene == C50H11.15; score == 251; expect == 4.5e-67; MEOW:CEgn0006932 (33%) |species == Worm; gene == K05D4.4; score == 247; expect == 1.2e-65; MEOW:CEgn0013272 (33%) |species == Worm; gene == K09A11.3; score == 246; expect == 2.7e-65; MEOW:CEgn0013605 (34%) |species == Worm; gene == F42A9.5; score == 240; expect == 7.9e-64; MEOW:CEgn0010646 (33%) |species == Worm; gene == K09A11.4; score == 240; expect == 1.0e-63; MEOW:CEgn0013606 (34%) |species == Worm; gene == K09A11.2; score == 238; expect == 5.1e-63; MEOW:CEgn0013604 (32%) |species == Worm; gene == C34B7.3; score == 237; expect == 1.3e-62; MEOW:CEgn0005938 (33%) |species == Worm; gene == Y49C4A.9; score == 236; expect == 1.1e-62; MEOW:CEgn0025547 (31%) |species == Worm; gene == F41B5.3; score == 235; expect == 3.3e-62; MEOW:CEgn0010542 (31%) |species == Worm; gene == C45H4.17; score == 234; expect == 1.1e-61; MEOW:CEgn0006559 (30%) |species == Worm; gene == B0213.15; score == 229; expect == 2.0e-60; MEOW:CEgn0003233 (31%) |species == Worm; gene == B0213.16; score == 229; expect == 2.0e-60; MEOW:CEgn0003234 (30%) |species == Fruitfly; gene == Cyp18a1; score == 226; expect == 1.7e-59; MEOW:FBgn0010383 (31%) |species == Worm; gene == B0213.14; score == 225; expect == 5.0e-59; MEOW:CEgn0003232 (30%) |species == Worm; gene == F41B5.7; score == 224; expect == 6.0e-59; MEOW:CEgn0010546 (28%) |species == Worm; gene == C25E10.2; score == 218; expect == 8.0e-57; MEOW:CEgn0005346 (28%) |species == Worm; gene == T10H4.11; score == 218; expect == 4.8e-57; MEOW:CEgn0016020 (30%) |species == Worm; gene == R08F11.3; score == 214; expect == 8.8e-56; MEOW:CEgn0014649 (31%) |species == Worm; gene == B0213.10; score == 213; expect == 1.5e-55; MEOW:CEgn0003229 (28%) |species == Worm; gene == B0213.11; score == 213; expect == 1.5e-55; MEOW:CEgn0003230 (29%) |species == Worm; gene == F41B5.2; score == 212; expect == 3.2e-55; MEOW:CEgn0010541 (31%) |species == Worm; gene == B0213.12; score == 209; expect == 2.2e-54; MEOW:CEgn0003231 (30%) |species == Mosquito; score == 200; expect == 7.4e-52; MEOW:AGgn0025243 (29%) |species == Mosquito; score == 199; expect == 2.1e-51; MEOW:AGgn0000677 (30%) |species == Mosquito; gene == LOC21702; score == 189; expect == 2.2e-48; MEOW:AGgn0021702 (29%) |species == Mosquito; gene == LOC18707; score == 185; expect == 2.5e-47; MEOW:AGgn0018707 (28%) |species == chimp; score == 181; expect == 1.5e-47; MEOW:sp|Q8HYN1|Q8HYN1 (28%) |species == Mosquito; score == 180; expect == 1.0e-45; MEOW:AGgn0029250 (30%) |species == Mosquito; gene == LOC24507; score == 169; expect == 1.8e-42; MEOW:AGgn0024507 (27%) |species == Mosquito; score == 168; expect == 3.1e-42; MEOW:AGgn0003135 (26%) |species == Mosquito; score == 162; expect == 2.2e-40; MEOW:AGgn0026398 (30%) |species == Mosquito; gene == LOC1701; score == 161; expect == 3.8e-40; MEOW:AGgn0001701 (25%) |species == Weed; gene == At1g33720; score == 156; expect == 3.7e-38; MEOW:ATgn0003152 (28%) |species == Weed; gene == At2g45560; score == 155; expect == 6.4e-38; MEOW:ATgn0010008 (28%) |species == Weed; gene == At4g12300; score == 148; expect == 7.8e-36; MEOW:ATgn0020380 (24%) |species == Weed; gene == CA4H; score == 147; expect == 1.3e-35; MEOW:ATgn0007898 (24%) |species == Weed; gene == At3g26200; score == 146; expect == 2.3e-35; MEOW:ATgn0012040 (27%) |species == Weed; gene == At3g44250; score == 144; expect == 8.6e-35; MEOW:ATgn0016094 (27%) |species == Weed; gene == At5g67310; score == 144; expect == 1.1e-34; MEOW:ATgn0026477 (28%) |species == Weed; gene == At4g37430; score == 142; expect == 4.3e-34; MEOW:ATgn0018545 (26%) |species == Weed; gene == At4g13770; score == 142; expect == 3.3e-34; MEOW:ATgn0018680 (25%) |species == Weed; gene == At4g22710; score == 142; expect == 4.3e-34; MEOW:ATgn0020732 (23%) |species == rice; score == 139; expect == 7.9e-33; MEOW:gnl|TIGR|8351.m02475 (24%) |species == rice; score == 136; expect == 8.8e-32; MEOW:gnl|TIGR|8351.m02479 (24%) |species == rice; score == 136; expect == 6.7e-32; MEOW:gnl|TIGR|8353.m03686 (22%) |species == rice; score == 134; expect == 2.0e-31; MEOW:gnl|TIGR|8356.m03844 (25%) |species == rice; score == 134; expect == 2.0e-31; MEOW:gnl|TIGR|8362.m00588 (25%) |species == rice; score == 132; expect == 7.4e-31; MEOW:gnl|TIGR|8351.m03392 (27%) |species == rice; score == 132; expect == 7.4e-31; MEOW:gnl|TIGR|8356.m03850 (26%) } # EOR GENR { RETE|ID 1 HUgn0001550 CHR 1 19 DID 1 LocusLink:1550 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 ORG 1 Homo sapiens SYM 1 CYP2A7P1 ID|HUgn0001550 DID|LocusLink:1550 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC008537 |NA:U22030 |NA:U22044 SYM|CYP2A7P1 NAM|cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 SYN|CYP2A7P2 |CYP2A7PT |CYP2A18PC |CYP2A18PN CHR|19 PRD|cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 2 |cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 1 |cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 2 MAP|19q13.2 DBL|SNP:1550 |DRNELSON:CytochromeP450.html URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:698180 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698179 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U22044 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U22044 } # EOR GENR { RETE|ID 1 HUgn0001551 CHR 1 7 DID 1 LocusLink:1551 MAP 1 7q21-q22.1 NAM 1 cytochrome P450, family 3, subfamily A, polypeptide 7 ORG 1 Homo sapiens SYM 1 CYP3A7 ID|HUgn0001551 DID|LocusLink:1551 ORG|Homo sapiens RSQ|REFSEQ:NM_000765 RPA|REFPROT:NP_000756 DBA|XM:NM_000765 |XM:NM_000765 |NA:AF280107 |NA:AF315325 |NA:BX647143 |NA:D00408 |NA:none PAC|XP:NP_000756 |XP:NP_000756 SYM|CYP3A7 NAM|cytochrome P450, family 3, subfamily A, polypeptide 7 SYN|CP37 |P450-HFLA FNC|cytochrome P450, family 3, subfamily A, polypeptide 7 |electron transport ; GO:0006118 REAB|This gene, CYP3A7, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is |involved in the formation of estriol during pregnancy. The enzyme also metabolizes |some drugs such as aflatoxin B1. This gene is part of a cluster of cytochrome P450 |genes on chromosome 7q21.1. Transcript variants have been described, but it is not |known whether these transcripts are normally produced. CHR|7 PRD|microsomal monooxygenase |xenobiotic monooxygenase |aryl hydrocarbon hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIIA, polypeptide 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=308638 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1551[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134409 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000765 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000765 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA122 DBL|UNIGENE:Hs.308638 |OMIM:605340 |SNP:1551 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|7q21-q22.1 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP3A4; score == 879; expect == 0.0; MEOW:HUgn0001576 (88%) |species == Human; gene == CYP3A5; score == 820; expect == 0.0; MEOW:HUgn0001577 (81%) |species == rat; score == 755; expect == 0.0; MEOW:ref|NP_671739.1| (72%) |species == Mouse; gene == Cyp3a13; score == 746; expect == 0.0; MEOW:MGgn0001838 (72%) |species == Mouse; gene == Cyp3a41; score == 733; expect == 0.0; MEOW:MGgn0014025 (68%) |species == Human; gene == CYP3A43; score == 728; expect == 0.0; MEOW:HUgn0064816 (71%) |species == Mouse; gene == Cyp3a11; score == 728; expect == 0.0; MEOW:MGgn0001837 (70%) |species == rat; score == 726; expect == 0.0; MEOW:ref|NP_775167.1| (70%) |species == rat; score == 708; expect == 0.0; MEOW:ref|NP_037237.1| (69%) |species == Mouse; gene == Cyp3a25; score == 707; expect == 0.0; MEOW:MGgn0028501 (67%) |species == rat; score == 707; expect == 0.0; MEOW:ref|NP_695224.2| (68%) |species == Mouse; gene == Cyp3a16; score == 700; expect == 0.0; MEOW:MGgn0001839 (68%) |species == Mouse; gene == Cyp3a44; score == 688; expect == 0.0; MEOW:MGgn0043243 (66%) |species == rat; score == 682; expect == 0.0; MEOW:ref|NP_665725.1| (65%) |species == Mosquito; score == 265; expect == 6.4e-71; MEOW:AGgn0028190 (32%) |species == Mosquito; score == 259; expect == 2.7e-69; MEOW:AGgn0014604 (32%) |species == Fruitfly; gene == Cyp6g1; score == 255; expect == 3.5e-68; MEOW:FBgn0025454 (34%) |species == Fruitfly; gene == Cyp9f2; score == 255; expect == 6.2e-68; MEOW:FBgn0038037 (32%) |species == Fruitfly; gene == Cyp6a14; score == 254; expect == 4.6e-68; MEOW:FBgn0033302 (34%) |species == Mosquito; gene == LOC23315; score == 248; expect == 4.3e-66; MEOW:AGgn0023315 (32%) |species == Mosquito; gene == LOC24642; score == 245; expect == 3.5e-65; MEOW:AGgn0024642 (31%) |species == Fruitfly; gene == Cyp6a23; score == 242; expect == 2.4e-64; MEOW:FBgn0033978 (34%) |species == Fruitfly; gene == Cyp6a13; score == 238; expect == 4.5e-63; MEOW:FBgn0033304 (32%) |species == Mosquito; gene == LOC23679; score == 237; expect == 5.6e-63; MEOW:AGgn0023679 (31%) |species == Mosquito; score == 236; expect == 1.2e-62; MEOW:AGgn0029507 (34%) |species == Fruitfly; gene == Cyp9b2; score == 236; expect == 2.2e-62; MEOW:FBgn0015039 (31%) |species == Fruitfly; gene == Cyp9c1; score == 236; expect == 3.0e-62; MEOW:FBgn0015040 (30%) |species == Fruitfly; gene == Cyp6a17; score == 235; expect == 2.9e-62; MEOW:FBgn0015714 (33%) |species == Mosquito; score == 234; expect == 8.0e-62; MEOW:AGgn0025224 (31%) |species == Mosquito; gene == LOC16180; score == 233; expect == 8.1e-62; MEOW:AGgn0016180 (33%) |species == Mosquito; gene == LOC16219; score == 233; expect == 1.1e-61; MEOW:AGgn0016219 (34%) |species == Mosquito; gene == LOC23997; score == 233; expect == 1.4e-61; MEOW:AGgn0023997 (33%) |species == Fruitfly; gene == Cyp6w1; score == 233; expect == 1.5e-61; MEOW:FBgn0033065 (30%) |species == Mosquito; gene == LOC16169; score == 231; expect == 4.0e-61; MEOW:AGgn0016169 (34%) |species == Mosquito; score == 231; expect == 7.2e-61; MEOW:AGgn0016801 (31%) |species == Fruitfly; gene == Cyp6a18; score == 231; expect == 9.4e-61; MEOW:FBgn0039519 (31%) |species == Mosquito; gene == LOC22003; score == 229; expect == 2.7e-60; MEOW:AGgn0022003 (31%) |species == Fruitfly; gene == Cyp6a2; score == 229; expect == 1.2e-60; MEOW:FBgn0000473 (31%) |species == Mosquito; gene == LOC24832; score == 228; expect == 6.0e-60; MEOW:AGgn0024832 (30%) |species == Mosquito; score == 228; expect == 6.1e-60; MEOW:AGgn0026844 (30%) |species == Fruitfly; gene == Cyp6g2; score == 227; expect == 1.4e-59; MEOW:FBgn0033696 (31%) |species == Fruitfly; gene == Cyp6a20; score == 226; expect == 1.7e-59; MEOW:FBgn0033980 (32%) |species == Mosquito; gene == LOC16824; score == 222; expect == 4.1e-58; MEOW:AGgn0016824 (30%) |species == Fruitfly; gene == Cyp6d4; score == 222; expect == 4.4e-58; MEOW:FBgn0039006 (34%) |species == Mosquito; gene == LOC12610; score == 221; expect == 1.1e-57; MEOW:AGgn0012610 (32%) |species == Mosquito; gene == LOC16967; score == 221; expect == 9.8e-58; MEOW:AGgn0016967 (30%) |species == Mosquito; gene == LOC12482; score == 220; expect == 1.2e-57; MEOW:AGgn0012482 (32%) |species == Mosquito; score == 220; expect == 1.3e-57; MEOW:AGgn0029433 (31%) |species == Fruitfly; gene == Cyp6v1; score == 218; expect == 8.5e-57; MEOW:FBgn0031126 (32%) |species == Mosquito; score == 216; expect == 2.4e-56; MEOW:AGgn0025421 (32%) |species == Worm; gene == T10B9.1; score == 214; expect == 6.2e-56; MEOW:CEgn0015930 (29%) |species == Fruitfly; gene == Cyp9b1; score == 214; expect == 1.2e-55; MEOW:FBgn0015038 (29%) |species == Mosquito; score == 213; expect == 2.0e-55; MEOW:AGgn0015257 (31%) |species == Mosquito; score == 213; expect == 2.0e-55; MEOW:AGgn0029449 (30%) |species == Worm; gene == F14F7.3; score == 213; expect == 1.4e-55; MEOW:CEgn0008446 (30%) |species == Fruitfly; gene == Cyp6a19; score == 213; expect == 1.5e-55; MEOW:FBgn0033979 (30%) |species == Mosquito; score == 212; expect == 3.4e-55; MEOW:AGgn0026204 (28%) |species == Worm; gene == T10B9.8; score == 211; expect == 5.3e-55; MEOW:CEgn0015936 (29%) |species == Fruitfly; gene == Cyp6d2; score == 209; expect == 3.0e-54; MEOW:FBgn0034756 (28%) |species == Worm; gene == T10B9.5; score == 207; expect == 9.9e-54; MEOW:CEgn0015934 (29%) |species == Fruitfly; gene == Cyp6a9; score == 207; expect == 1.1e-53; MEOW:FBgn0013771 (30%) |species == Worm; gene == T10B9.2; score == 206; expect == 2.2e-53; MEOW:CEgn0015931 (28%) |species == Worm; gene == T10B9.3; score == 206; expect == 1.3e-53; MEOW:CEgn0015932 (28%) |species == Worm; gene == F14F7.2; score == 204; expect == 6.4e-53; MEOW:CEgn0008445 (30%) |species == Worm; gene == C36A4.2; score == 193; expect == 1.1e-49; MEOW:CEgn0006082 (29%) |species == Worm; gene == T10B9.7; score == 193; expect == 1.7e-49; MEOW:CEgn0015935 (29%) |species == Worm; gene == C36A4.1; score == 192; expect == 2.5e-49; MEOW:CEgn0006081 (30%) |species == Worm; gene == ZK1320.4; score == 175; expect == 6.5e-44; MEOW:CEgn0021491 (25%) |species == Weed; gene == At2g26170; score == 174; expect == 1.4e-43; MEOW:ATgn0009709 (27%) |species == Worm; gene == C36A4.6; score == 172; expect == 5.1e-43; MEOW:CEgn0006085 (27%) |species == rice; score == 157; expect == 1.0e-38; MEOW:gnl|TIGR|8350.m04680 (25%) |species == rice; score == 157; expect == 1.8e-38; MEOW:gnl|TIGR|8355.m04212 (28%) |species == rice; score == 156; expect == 3.1e-38; MEOW:gnl|TIGR|8350.m03841 (28%) |species == rice; score == 156; expect == 8.4e-38; MEOW:gnl|TIGR|8350.m04036 (29%) |species == Weed; gene == At5g38450; score == 154; expect == 1.4e-37; MEOW:ATgn0024044 (26%) |species == rice; score == 150; expect == 1.7e-36; MEOW:gnl|TIGR|8355.m02105 (29%) |species == Weed; gene == At3g14620; score == 146; expect == 2.3e-35; MEOW:ATgn0012579 (29%) |species == rice; score == 145; expect == 1.5e-34; MEOW:gnl|TIGR|8355.m04209 (28%) |species == Weed; gene == At2g46950; score == 142; expect == 3.3e-34; MEOW:ATgn0011128 (25%) |species == rice; score == 142; expect == 7.3e-34; MEOW:gnl|TIGR|8350.m03842 (27%) |species == rice; score == 142; expect == 7.3e-34; MEOW:gnl|TIGR|8353.m02668 (26%) |species == rice; score == 142; expect == 3.5e-34; MEOW:gnl|TIGR|8355.m04211 (28%) |species == rice; score == 139; expect == 2.9e-33; MEOW:gnl|TIGR|8360.m02304 (27%) } # EOR GENR { RETE|ID 1 HUgn0001553 CHR 1 19 DID 1 LocusLink:1553 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily A, polypeptide 13 ORG 1 Homo sapiens SYM 1 CYP2A13 ID|HUgn0001553 DID|LocusLink:1553 ORG|Homo sapiens RSQ|REFSEQ:NM_000766 RPA|REFPROT:NP_000757 DBA|XM:NM_000766 |NA:U22028 |NA:AF209774 |NA:none PAC|XP:NP_000757 SYM|CYP2A13 NAM|cytochrome P450, family 2, subfamily A, polypeptide 13 SYN|CPAD FNC|cytochrome P450, family 2, subfamily A, polypeptide 13 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum. Although its endogenous substrate has not |been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, |a major nitrosamine specific to tobacco. This gene is part of a large cluster of |cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome |19q. CHR|19 PRD|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181973 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1553[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698176 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000766 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000766 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.181973 |OMIM:608055 |SNP:1553 |DRNELSON:CytochromeP450.html MAP|19q13.2 ENZ|monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2A6; score == 905; expect == 0.0; MEOW:HUgn0001548 (93%) |species == Human; gene == CYP2A7; score == 879; expect == 0.0; MEOW:HUgn0001549 (91%) |species == Mouse; gene == Cyp2a5; score == 864; expect == 0.0; MEOW:MGgn0001811 (89%) |species == rat; score == 864; expect == 0.0; MEOW:ref|NP_036674.1| (89%) |species == Mouse; gene == Cyp2a4; score == 847; expect == 0.0; MEOW:MGgn0001810 (87%) |species == Mouse; gene == Cyp2a12; score == 703; expect == 0.0; MEOW:MGgn0001809 (73%) |species == rat; score == 694; expect == 0.0; MEOW:ref|NP_036824.1| (72%) |species == Zfish; gene == cyp2ja; score == 371; expect == 3e-104; MEOW:ZFgn0002623 (42%) |species == Worm; gene == C49C8.4; score == 270; expect == 9.3e-73; MEOW:CEgn0006771 (35%) |species == Worm; gene == C50H11.15; score == 262; expect == 2.5e-70; MEOW:CEgn0006932 (34%) |species == Worm; gene == F42A9.5; score == 250; expect == 1.3e-66; MEOW:CEgn0010646 (32%) |species == Worm; gene == K09A11.3; score == 248; expect == 5.5e-66; MEOW:CEgn0013605 (34%) |species == Worm; gene == K05D4.4; score == 244; expect == 5.5e-65; MEOW:CEgn0013272 (32%) |species == Worm; gene == C45H4.17; score == 243; expect == 1.2e-64; MEOW:CEgn0006559 (31%) |species == Worm; gene == F44C8.1; score == 242; expect == 2.7e-64; MEOW:CEgn0010812 (30%) |species == Worm; gene == F41B5.4; score == 241; expect == 6.0e-64; MEOW:CEgn0010543 (30%) |species == Worm; gene == K09A11.4; score == 241; expect == 3.5e-64; MEOW:CEgn0013606 (33%) |species == Worm; gene == K09A11.2; score == 240; expect == 1.0e-63; MEOW:CEgn0013604 (32%) |species == Fruitfly; gene == Cyp18a1; score == 240; expect == 1.1e-63; MEOW:FBgn0010383 (31%) |species == Worm; gene == C34B7.3; score == 239; expect == 2.6e-63; MEOW:CEgn0005938 (33%) |species == Worm; gene == C45H4.2; score == 232; expect == 3.2e-61; MEOW:CEgn0006545 (31%) |species == Worm; gene == F41B5.7; score == 229; expect == 1.9e-60; MEOW:CEgn0010546 (29%) |species == Worm; gene == F41B5.3; score == 227; expect == 1.3e-59; MEOW:CEgn0010542 (32%) |species == Worm; gene == B0213.16; score == 225; expect == 3.9e-59; MEOW:CEgn0003234 (30%) |species == Worm; gene == B0213.15; score == 224; expect == 8.6e-59; MEOW:CEgn0003233 (30%) |species == Worm; gene == C25E10.2; score == 223; expect == 2.5e-58; MEOW:CEgn0005346 (29%) |species == Worm; gene == B0213.14; score == 219; expect == 3.6e-57; MEOW:CEgn0003232 (29%) |species == Mosquito; gene == LOC18707; score == 196; expect == 1.4e-50; MEOW:AGgn0018707 (31%) |species == Mosquito; score == 193; expect == 1.5e-49; MEOW:AGgn0000677 (31%) |species == Mosquito; gene == LOC21702; score == 192; expect == 2.6e-49; MEOW:AGgn0021702 (29%) |species == Mosquito; score == 192; expect == 2.6e-49; MEOW:AGgn0025243 (31%) |species == chimp; score == 191; expect == 1.1e-50; MEOW:sp|Q8HYN1|Q8HYN1 (29%) |species == Mosquito; score == 181; expect == 4.6e-46; MEOW:AGgn0003135 (28%) |species == Mosquito; gene == LOC1701; score == 173; expect == 1.3e-43; MEOW:AGgn0001701 (26%) |species == Mosquito; gene == LOC24507; score == 172; expect == 1.6e-43; MEOW:AGgn0024507 (27%) |species == Mosquito; score == 172; expect == 2.2e-43; MEOW:AGgn0029250 (30%) |species == Weed; gene == At1g33720; score == 161; expect == 6.8e-40; MEOW:ATgn0003152 (27%) |species == Weed; gene == At2g45550; score == 161; expect == 1.2e-39; MEOW:ATgn0010006 (26%) |species == Weed; gene == At2g45560; score == 156; expect == 3.7e-38; MEOW:ATgn0010008 (27%) |species == Weed; gene == CA4H; score == 155; expect == 4.9e-38; MEOW:ATgn0007898 (25%) |species == rice; score == 154; expect == 2.4e-37; MEOW:gnl|TIGR|8351.m02475 (26%) |species == Weed; gene == At3g26200; score == 152; expect == 3.2e-37; MEOW:ATgn0012040 (26%) |species == Weed; gene == At4g12300; score == 152; expect == 5.4e-37; MEOW:ATgn0020380 (24%) |species == Weed; gene == At4g22690; score == 151; expect == 1.2e-36; MEOW:ATgn0020728 (23%) |species == Weed; gene == At4g22710; score == 151; expect == 7.1e-37; MEOW:ATgn0020732 (23%) |species == rice; score == 151; expect == 2.6e-36; MEOW:gnl|TIGR|8351.m02479 (26%) |species == Weed; gene == At3g26270; score == 149; expect == 3.5e-36; MEOW:ATgn0012054 (25%) |species == Weed; gene == At4g13770; score == 149; expect == 2.7e-36; MEOW:ATgn0018680 (25%) |species == rice; score == 142; expect == 9.4e-34; MEOW:gnl|TIGR|8351.m03392 (27%) |species == rice; score == 142; expect == 1.2e-33; MEOW:gnl|TIGR|8362.m00588 (26%) |species == rice; score == 141; expect == 1.6e-33; MEOW:gnl|TIGR|8362.m00377 (25%) |species == rice; score == 140; expect == 3.6e-33; MEOW:gnl|TIGR|8353.m03686 (22%) |species == Weed; gene == At3g26180; score == 139; expect == 2.8e-33; MEOW:ATgn0012024 (26%) |species == rice; score == 139; expect == 2.8e-33; MEOW:gnl|TIGR|8356.m03844 (26%) |species == rice; score == 139; expect == 6.1e-33; MEOW:gnl|TIGR|8360.m01281 (26%) |species == rice; score == 139; expect == 3.9e-33; MEOW:gnl|TIGR|8362.m02286 (27%) |species == rice; score == 138; expect == 1.8e-32; MEOW:gnl|TIGR|8353.m02178 (25%) |species == Weed; gene == At5g67310; score == 137; expect == 1.1e-32; MEOW:ATgn0026477 (28%) |species == Weed; gene == At4g37430; score == 136; expect == 3.1e-32; MEOW:ATgn0018545 (25%) |species == Weed; gene == At3g26220; score == 135; expect == 5.3e-32; MEOW:ATgn0012042 (26%) |species == Weed; gene == At3g26230; score == 132; expect == 3.4e-31; MEOW:ATgn0012043 (27%) } # EOR GENR { RETE|ID 1 HUgn0001554 CHR 1 19 DID 1 LocusLink:1554 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily B ORG 1 Homo sapiens SYM 1 CYP2B ID|HUgn0001554 DID|LocusLink:1554 ORG|Homo sapiens SYM|CYP2B NAM|cytochrome P450, family 2, subfamily B CHR|19 PRD|cytochrome P450, subfamily IIB (phenobarbital-inducible) MAP|19q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120752 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001555 CHR 1 19 DID 1 LocusLink:1555 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily B, polypeptide 6 ORG 1 Homo sapiens SYM 1 CYP2B6 ID|HUgn0001555 DID|LocusLink:1555 ORG|Homo sapiens RSQ|REFSEQ:NM_000767 RPA|REFPROT:NP_000758 DBA|XM:NM_000767 |NA:AC023172 |NA:AF081569 |NA:AF182277 |NA:M29874 |NA:X13494 |NA:none PAC|XP:NP_000758 SYM|CYP2B6 NAM|cytochrome P450, family 2, subfamily B, polypeptide 6 SYN|CPB6 |IIB1 |P450 |CYP2B |CYPIIB6 FNC|cytochrome P450, family 2, subfamily B, polypeptide 6 |electron transport ; GO:0006118 REAB|This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |protein localizes to the endoplasmic reticulum and its expression is induced by |phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer |drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been |described; however, it has not been resolved whether these transcripts are in fact |produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene |and the pseudogene are located in the middle of a CYP2A pseudogene found in a large |cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on |chromosome 19q. CHR|19 PRD|cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1360 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1555[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698181 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000767 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000767 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA123 DBL|UNIGENE:Hs.1360 |OMIM:123930 |SNP:1555 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |unspecific monooxygenase activity ; GO:0050381 MAP|19q13.2 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Cyp2b20; score == 724; expect == 0.0; MEOW:MGgn0001815 (78%) |species == Mouse; gene == Cyp2b10; score == 701; expect == 0.0; MEOW:MGgn0001812 (74%) |species == rat; score == 701; expect == 0.0; MEOW:ref|XP_341809.1| (75%) |species == Mouse; gene == Cyp2b19; score == 698; expect == 0.0; MEOW:MGgn0001814 (75%) |species == rat; score == 686; expect == 0.0; MEOW:ref|XP_214865.2| (73%) |species == rat; score == 678; expect == 0.0; MEOW:ref|XP_346538.1| (72%) |species == Mouse; gene == Cyp2b9; score == 671; expect == 0.0; MEOW:MGgn0001819 (72%) |species == Mouse; gene == Cyp2b13; score == 659; expect == 0.0; MEOW:MGgn0001813 (71%) |species == rat; score == 637; expect == 0.0; MEOW:ref|NP_775416.1| (67%) |species == Human; gene == CYP2B7; score == 629; expect == 1e-180; MEOW:HUgn0001556 (90%) |species == rat; score == 629; expect == 1e-180; MEOW:ref|XP_218348.2| (70%) |species == Human; gene == CYP2A13; score == 540; expect == 7e-154; MEOW:HUgn0001553 (54%) |species == Human; gene == CYP2A7; score == 521; expect == 3e-148; MEOW:HUgn0001549 (52%) |species == Zfish; gene == cyp2ja; score == 335; expect == 2.3e-93; MEOW:ZFgn0002623 (40%) |species == Worm; gene == C50H11.15; score == 265; expect == 3.4e-71; MEOW:CEgn0006932 (34%) |species == Worm; gene == C45H4.17; score == 251; expect == 6.5e-67; MEOW:CEgn0006559 (33%) |species == Worm; gene == C45H4.2; score == 247; expect == 9.5e-66; MEOW:CEgn0006545 (33%) |species == Fruitfly; gene == Cyp18a1; score == 246; expect == 3.0e-65; MEOW:FBgn0010383 (32%) |species == Worm; gene == B0304.3; score == 240; expect == 7.8e-64; MEOW:CEgn0003372 (34%) |species == Worm; gene == R08F11.3; score == 239; expect == 2.3e-63; MEOW:CEgn0014649 (33%) |species == Worm; gene == B0213.15; score == 233; expect == 1.4e-61; MEOW:CEgn0003233 (30%) |species == Worm; gene == C12D5.7; score == 232; expect == 2.8e-61; MEOW:CEgn0004634 (33%) |species == Worm; gene == Y49C4A.9; score == 232; expect == 2.8e-61; MEOW:CEgn0025547 (32%) |species == Worm; gene == K05D4.4; score == 231; expect == 9.1e-61; MEOW:CEgn0013272 (31%) |species == Worm; gene == F41B5.4; score == 230; expect == 1.6e-60; MEOW:CEgn0010543 (33%) |species == Worm; gene == C49C8.4; score == 229; expect == 2.4e-60; MEOW:CEgn0006771 (32%) |species == Worm; gene == B0213.16; score == 228; expect == 4.6e-60; MEOW:CEgn0003234 (30%) |species == Worm; gene == F44C8.1; score == 227; expect == 1.3e-59; MEOW:CEgn0010812 (32%) |species == Worm; gene == B0213.14; score == 223; expect == 1.5e-58; MEOW:CEgn0003232 (31%) |species == Worm; gene == T10H4.11; score == 222; expect == 3.3e-58; MEOW:CEgn0016020 (31%) |species == Worm; gene == B0213.12; score == 221; expect == 4.9e-58; MEOW:CEgn0003231 (32%) |species == Worm; gene == B0213.10; score == 220; expect == 1.2e-57; MEOW:CEgn0003229 (30%) |species == Worm; gene == B0213.11; score == 219; expect == 3.6e-57; MEOW:CEgn0003230 (31%) |species == Worm; gene == C25E10.2; score == 213; expect == 1.5e-55; MEOW:CEgn0005346 (28%) |species == Fruitfly; gene == Cyp303a1; score == 206; expect == 1.9e-53; MEOW:FBgn0001992 (31%) |species == Mosquito; score == 191; expect == 5.8e-49; MEOW:AGgn0000677 (29%) |species == Mosquito; score == 189; expect == 2.5e-48; MEOW:AGgn0003135 (29%) |species == Mosquito; gene == LOC18707; score == 189; expect == 1.3e-48; MEOW:AGgn0018707 (31%) |species == Mosquito; score == 187; expect == 8.4e-48; MEOW:AGgn0025243 (29%) |species == Mosquito; score == 184; expect == 4.2e-47; MEOW:AGgn0029250 (30%) |species == Mosquito; gene == LOC21702; score == 177; expect == 6.6e-45; MEOW:AGgn0021702 (28%) |species == Mosquito; gene == LOC1701; score == 173; expect == 1.3e-43; MEOW:AGgn0001701 (27%) |species == chimp; score == 172; expect == 9.1e-45; MEOW:sp|Q8HYN1|Q8HYN1 (28%) |species == Mosquito; gene == LOC24507; score == 169; expect == 2.4e-42; MEOW:AGgn0024507 (27%) |species == Weed; gene == At4g13770; score == 166; expect == 2.1e-41; MEOW:ATgn0018680 (27%) |species == Mosquito; score == 162; expect == 2.9e-40; MEOW:AGgn0026398 (28%) |species == Weed; gene == At3g26180; score == 147; expect == 1.0e-35; MEOW:ATgn0012024 (25%) |species == Weed; gene == At3g26280; score == 146; expect == 3.0e-35; MEOW:ATgn0012057 (27%) |species == rice; score == 146; expect == 3.9e-35; MEOW:gnl|TIGR|8353.m02178 (23%) |species == Weed; gene == At5g57220; score == 143; expect == 1.9e-34; MEOW:ATgn0023375 (26%) |species == Weed; gene == At3g26200; score == 141; expect == 7.3e-34; MEOW:ATgn0012040 (25%) |species == Weed; gene == At3g44250; score == 140; expect == 1.6e-33; MEOW:ATgn0016094 (25%) |species == Weed; gene == At3g26170; score == 138; expect == 6.3e-33; MEOW:ATgn0012021 (24%) |species == Weed; gene == At4g31500; score == 138; expect == 8.1e-33; MEOW:ATgn0018769 (25%) |species == Weed; gene == At3g10560; score == 136; expect == 4.2e-32; MEOW:ATgn0014958 (25%) |species == Weed; gene == At3g26270; score == 135; expect == 6.9e-32; MEOW:ATgn0012054 (25%) |species == Weed; gene == At1g13110; score == 134; expect == 1.5e-31; MEOW:ATgn0001115 (26%) } # EOR GENR { RETE|ID 1 HUgn0001556 CHR 1 19 DID 1 LocusLink:1556 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene ORG 1 Homo sapiens SYM 1 CYP2B7 ID|HUgn0001556 DID|LocusLink:1556 CLA|Pseudogene ORG|Homo sapiens DBA|XM:NR_001278 |NA:BC041174 |NA:M29873 SYM|CYP2B7 NAM|cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene SYN|CYP2B7P CHR|19 PRD|cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=415794 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698182 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC041174 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC041174 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=415794 DBL|UNIGENE:Hs.415794 |SNP:1556 |DRNELSON:CytochromeP450.html MAP|19q13.2 HG|species == Human; gene == CYP2B6; score == 629; expect == 1e-180; MEOW:HUgn0001555 (90%) |species == Mouse; gene == Cyp2b20; score == 525; expect == 2e-149; MEOW:MGgn0001815 (75%) |species == Mouse; gene == Cyp2b19; score == 516; expect == 1e-146; MEOW:MGgn0001814 (73%) |species == Mouse; gene == Cyp2b10; score == 511; expect == 5e-145; MEOW:MGgn0001812 (72%) |species == rat; score == 496; expect == 9e-141; MEOW:ref|XP_346538.1| (70%) |species == rat; score == 491; expect == 3e-139; MEOW:ref|XP_341809.1| (74%) |species == rat; score == 481; expect == 4e-136; MEOW:ref|XP_214865.2| (71%) |species == Mouse; gene == Cyp2b9; score == 478; expect == 2e-135; MEOW:MGgn0001819 (69%) |species == Mouse; gene == Cyp2b13; score == 468; expect == 3e-132; MEOW:MGgn0001813 (68%) |species == rat; score == 447; expect == 2e-125; MEOW:ref|XP_218348.2| (67%) |species == rat; score == 434; expect == 5e-122; MEOW:ref|NP_775416.1| (65%) |species == Zfish; gene == cyp2ja; score == 238; expect == 1.6e-64; MEOW:ZFgn0002623 (39%) |species == Worm; gene == B0213.12; score == 166; expect == 2.8e-41; MEOW:CEgn0003231 (31%) |species == Worm; gene == C50H11.15; score == 157; expect == 4.8e-39; MEOW:CEgn0006932 (29%) |species == Worm; gene == B0304.3; score == 156; expect == 1.4e-38; MEOW:CEgn0003372 (31%) |species == Worm; gene == R08F11.3; score == 152; expect == 2.6e-37; MEOW:CEgn0014649 (30%) |species == Worm; gene == C45H4.2; score == 148; expect == 3.8e-36; MEOW:CEgn0006545 (27%) |species == Worm; gene == B0213.11; score == 147; expect == 6.5e-36; MEOW:CEgn0003230 (29%) |species == Worm; gene == K09A11.3; score == 147; expect == 5.0e-36; MEOW:CEgn0013605 (29%) |species == Worm; gene == K09A11.4; score == 145; expect == 2.5e-35; MEOW:CEgn0013606 (30%) |species == Fruitfly; gene == Cyp18a1; score == 144; expect == 3.6e-35; MEOW:FBgn0010383 (29%) |species == Worm; gene == F41B5.4; score == 143; expect == 9.4e-35; MEOW:CEgn0010543 (29%) |species == Worm; gene == Y49C4A.9; score == 143; expect == 9.4e-35; MEOW:CEgn0025547 (28%) |species == Worm; gene == Y5H2B.6; score == 142; expect == 1.6e-34; MEOW:CEgn0025423 (27%) } # EOR GENR { RETE|ID 1 HUgn0001557 CHR 1 10 DID 1 LocusLink:1557 MAP 1 10q24.1-q24.3 NAM 1 cytochrome P450, family 2, subfamily C, polypeptide 19 ORG 1 Homo sapiens SYM 1 CYP2C19 ID|HUgn0001557 DID|LocusLink:1557 ORG|Homo sapiens RSQ|REFSEQ:NM_000769 RPA|REFPROT:NP_000760 DBA|XM:NM_000769 |NA:L07093 |NA:M61854 |NA:none PAC|XP:NP_000760 SYM|CYP2C19 NAM|cytochrome P450, family 2, subfamily C, polypeptide 19 SYN|CPCJ |CYP2C |P450C2C |P450IIC19 FNC|cytochrome P450, family 2, subfamily C, polypeptide 19 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, |including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. |Polymorphism within this gene is associated with variable ability to metabolize |mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. |The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. CHR|10 PRD|microsomal monooxygenase |xenobiotic monooxygenase |mephenytoin 4'-hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282409 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1557[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119831 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000769 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000769 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA124 DBL|UNIGENE:Hs.282409 |OMIM:124020 |SNP:1557 |UWCM:rch/131456. |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|10q24.1-q24.3 PHP|Mephenytoin poor metabolizer CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2C9; score == 862; expect == 0.0; MEOW:HUgn0001559 (91%) |species == Human; gene == CYP2C18; score == 798; expect == 0.0; MEOW:HUgn0001562 (80%) |species == Human; gene == CYP2C8; score == 753; expect == 0.0; MEOW:HUgn0001558 (77%) |species == Mouse; gene == Cyp2c29; score == 743; expect == 0.0; MEOW:MGgn0001820 (75%) |species == rat; score == 740; expect == 0.0; MEOW:ref|XP_219933.2| (76%) |species == rat; score == 738; expect == 0.0; MEOW:ref|NP_062057.1| (74%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_215255.2| (74%) |species == Mouse; gene == Cyp2c55; score == 726; expect == 0.0; MEOW:MGgn0019154 (72%) |species == rat; score == 725; expect == 0.0; MEOW:ref|NP_058854.1| (72%) |species == Mouse; gene == Cyp2c39; score == 724; expect == 0.0; MEOW:MGgn0001823 (73%) |species == rat; score == 723; expect == 0.0; MEOW:ref|XP_215257.2| (71%) |species == Mouse; gene == Cyp2c38; score == 711; expect == 0.0; MEOW:MGgn0001822 (72%) |species == Mouse; gene == Cyp2c50; score == 701; expect == 0.0; MEOW:MGgn0030678 (72%) |species == Mouse; gene == Cyp2c37; score == 699; expect == 0.0; MEOW:MGgn0001821 (72%) |species == rat; score == 651; expect == 0.0; MEOW:ref|NP_612523.1| (66%) |species == rat; score == 644; expect == 0.0; MEOW:ref|NP_113760.1| (67%) |species == rat; score == 644; expect == 0.0; MEOW:ref|NP_612521.1| (61%) |species == Mouse; gene == Cyp2c70; score == 641; expect == 0.0; MEOW:MGgn0043238 (61%) |species == Mouse; gene == Cyp2c40; score == 636; expect == 0.0; MEOW:MGgn0001824 (66%) |species == rat; score == 626; expect == 7e-180; MEOW:ref|XP_217906.2| (71%) |species == rat; score == 609; expect == 9e-175; MEOW:ref|XP_346586.1| (62%) |species == Zfish; gene == cyp2ja; score == 382; expect == 3e-106; MEOW:ZFgn0002623 (44%) |species == Fruitfly; gene == Cyp18a1; score == 256; expect == 2.9e-68; MEOW:FBgn0010383 (32%) |species == Worm; gene == C49C8.4; score == 253; expect == 8.9e-68; MEOW:CEgn0006771 (36%) |species == Worm; gene == C45H4.17; score == 248; expect == 5.5e-66; MEOW:CEgn0006559 (32%) |species == Worm; gene == K09A11.3; score == 244; expect == 1.0e-64; MEOW:CEgn0013605 (32%) |species == Worm; gene == C45H4.2; score == 243; expect == 2.3e-64; MEOW:CEgn0006545 (32%) |species == Worm; gene == C12D5.7; score == 241; expect == 4.6e-64; MEOW:CEgn0004634 (34%) |species == Worm; gene == Y49C4A.9; score == 236; expect == 1.5e-62; MEOW:CEgn0025547 (33%) |species == Worm; gene == F41B5.7; score == 235; expect == 5.8e-62; MEOW:CEgn0010546 (32%) |species == Worm; gene == F42A9.5; score == 232; expect == 2.8e-61; MEOW:CEgn0010646 (34%) |species == Worm; gene == K05D4.4; score == 231; expect == 9.1e-61; MEOW:CEgn0013272 (30%) |species == Worm; gene == F44C8.1; score == 230; expect == 1.6e-60; MEOW:CEgn0010812 (33%) |species == Worm; gene == F41B5.3; score == 229; expect == 3.5e-60; MEOW:CEgn0010542 (33%) |species == Worm; gene == K09A11.2; score == 228; expect == 4.5e-60; MEOW:CEgn0013604 (33%) |species == Worm; gene == C50H11.15; score == 225; expect == 2.6e-59; MEOW:CEgn0006932 (33%) |species == Worm; gene == F41B5.4; score == 225; expect == 5.1e-59; MEOW:CEgn0010543 (32%) |species == Worm; gene == B0213.14; score == 223; expect == 1.9e-58; MEOW:CEgn0003232 (31%) |species == Worm; gene == C34B7.3; score == 219; expect == 2.7e-57; MEOW:CEgn0005938 (30%) |species == Worm; gene == B0213.15; score == 217; expect == 1.4e-56; MEOW:CEgn0003233 (31%) |species == Worm; gene == B0213.16; score == 217; expect == 1.4e-56; MEOW:CEgn0003234 (30%) |species == Worm; gene == T10H4.11; score == 217; expect == 1.1e-56; MEOW:CEgn0016020 (31%) |species == Worm; gene == C25E10.2; score == 216; expect == 3.1e-56; MEOW:CEgn0005346 (29%) |species == Worm; gene == B0213.10; score == 214; expect == 6.8e-56; MEOW:CEgn0003229 (32%) |species == Worm; gene == R08F11.3; score == 214; expect == 1.2e-55; MEOW:CEgn0014649 (31%) |species == Worm; gene == F41B5.2; score == 211; expect == 9.2e-55; MEOW:CEgn0010541 (31%) |species == Worm; gene == daf-9; score == 207; expect == 1.2e-53; MEOW:CEgn0000352 (31%) |species == Worm; gene == B0213.11; score == 203; expect == 1.6e-52; MEOW:CEgn0003230 (31%) |species == chimp; score == 199; expect == 2.3e-51; MEOW:sp|Q8HYN1|Q8HYN1 (30%) |species == Mosquito; gene == LOC24507; score == 177; expect == 5.1e-45; MEOW:AGgn0024507 (27%) |species == Mosquito; score == 172; expect == 2.1e-43; MEOW:AGgn0000677 (30%) |species == Mosquito; score == 170; expect == 1.1e-42; MEOW:AGgn0025243 (30%) |species == Mosquito; gene == LOC21702; score == 162; expect == 2.2e-40; MEOW:AGgn0021702 (28%) |species == Weed; gene == At3g26180; score == 159; expect == 2.6e-39; MEOW:ATgn0012024 (28%) |species == Weed; gene == At4g13770; score == 158; expect == 7.5e-39; MEOW:ATgn0018680 (27%) |species == Mosquito; gene == LOC1701; score == 156; expect == 1.2e-38; MEOW:AGgn0001701 (27%) |species == Weed; gene == At3g26170; score == 156; expect == 2.2e-38; MEOW:ATgn0012021 (28%) |species == Mosquito; gene == LOC18707; score == 152; expect == 2.3e-37; MEOW:AGgn0018707 (28%) |species == Mosquito; score == 152; expect == 1.7e-37; MEOW:AGgn0029250 (30%) |species == Weed; gene == At3g26200; score == 152; expect == 4.1e-37; MEOW:ATgn0012040 (28%) |species == Weed; gene == At3g26280; score == 152; expect == 5.5e-37; MEOW:ATgn0012057 (28%) |species == Weed; gene == At3g26270; score == 150; expect == 1.6e-36; MEOW:ATgn0012054 (26%) |species == Weed; gene == At5g25120; score == 149; expect == 3.5e-36; MEOW:ATgn0023507 (29%) |species == Weed; gene == At3g48280; score == 149; expect == 3.5e-36; MEOW:ATgn0028511 (28%) |species == Weed; gene == At2g45550; score == 147; expect == 1.3e-35; MEOW:ATgn0010006 (29%) |species == Weed; gene == At5g25130; score == 145; expect == 6.6e-35; MEOW:ATgn0024128 (28%) |species == Weed; gene == At3g48310; score == 142; expect == 5.5e-34; MEOW:ATgn0028514 (27%) |species == rice; score == 142; expect == 4.3e-34; MEOW:gnl|TIGR|8353.m02178 (27%) |species == Weed; gene == At5g57220; score == 141; expect == 9.4e-34; MEOW:ATgn0023375 (24%) |species == Weed; gene == At1g13110; score == 140; expect == 2.2e-33; MEOW:ATgn0001115 (28%) |species == Weed; gene == At3g48270; score == 140; expect == 1.6e-33; MEOW:ATgn0029278 (26%) |species == rice; score == 140; expect == 2.1e-33; MEOW:gnl|TIGR|8360.m01281 (27%) |species == Weed; gene == At5g04630; score == 139; expect == 2.9e-33; MEOW:ATgn0024747 (24%) |species == rice; score == 139; expect == 2.8e-33; MEOW:gnl|TIGR|8356.m03844 (26%) |species == Weed; gene == At3g26160; score == 138; expect == 6.3e-33; MEOW:ATgn0012017 (27%) |species == Weed; gene == At3g52970; score == 137; expect == 1.4e-32; MEOW:ATgn0012421 (25%) |species == rice; score == 137; expect == 1.1e-32; MEOW:gnl|TIGR|8357.m02325 (29%) |species == rice; score == 137; expect == 1.9e-32; MEOW:gnl|TIGR|8360.m04925 (26%) |species == Weed; gene == At3g26150; score == 136; expect == 2.4e-32; MEOW:ATgn0012015 (26%) |species == Weed; gene == At3g26220; score == 134; expect == 9.0e-32; MEOW:ATgn0012042 (27%) |species == rice; score == 134; expect == 5.3e-31; MEOW:gnl|TIGR|8357.m02326 (27%) |species == Weed; gene == At4g37430; score == 132; expect == 3.4e-31; MEOW:ATgn0018545 (24%) |species == rice; score == 132; expect == 9.6e-31; MEOW:gnl|TIGR|8351.m02475 (27%) |species == rice; score == 132; expect == 9.6e-31; MEOW:gnl|TIGR|8353.m03686 (26%) } # EOR GENR { RETE|ID 1 HUgn0001558 CHR 1 10 DID 1 LocusLink:1558 MAP 1 10q24.1 NAM 1 cytochrome P450, family 2, subfamily C, polypeptide 8 ORG 1 Homo sapiens SYM 1 CYP2C8 ID|HUgn0001558 DID|LocusLink:1558 ORG|Homo sapiens RSQ|REFSEQ:NM_000770 |REFSEQ:NM_030878 RPA|REFPROT:NP_000761 |REFPROT:NP_110518 DBA|XM:NM_000770 |XM:NM_030878 |NA:X54807 |NA:BC020596 |NA:M17397 |NA:M17398 |NA:M21941 |NA:M21942 |NA:X51535 |NA:Y00498 |NA:none PAC|XP:NP_000761 |XP:NP_110518 SYM|CYP2C8 NAM|cytochrome P450, family 2, subfamily C, polypeptide 8 SYN|CPC8 |P450 MP-12/MP-20 FNC|cytochrome P450, family 2, subfamily C, polypeptide 8 isoform 1 |cytochrome P450, family 2, subfamily C, polypeptide 8 isoform 2 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. |The enzyme is known to metabolize many xenobiotics, including the anticonvulsive |drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. |Two transcript variants for this gene have been described; it is thought that the |longer form does not encode an active cytochrome P450 since its protein product |lacks the heme binding site. This gene is located within a cluster of cytochrome |P450 genes on chromosome 10q24. CHR|10 PRD|P450 form 1 |microsomal monooxygenase |xenobiotic monooxygenase |mephenytoin 4-hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282871 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1558[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127450 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_030878 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_030878 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=282871 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA125 DBL|UNIGENE:Hs.282871 |OMIM:601129 |SNP:1558 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |unspecific monooxygenase activity ; GO:0050381 MAP|10q24.1 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2C19; score == 753; expect == 0.0; MEOW:HUgn0001557 (77%) |species == Human; gene == CYP2C9; score == 743; expect == 0.0; MEOW:HUgn0001559 (77%) |species == Human; gene == CYP2C18; score == 743; expect == 0.0; MEOW:HUgn0001562 (77%) |species == Mouse; gene == Cyp2c39; score == 714; expect == 0.0; MEOW:MGgn0001823 (72%) |species == Mouse; gene == Cyp2c55; score == 706; expect == 0.0; MEOW:MGgn0019154 (71%) |species == rat; score == 690; expect == 0.0; MEOW:ref|XP_219933.2| (73%) |species == rat; score == 688; expect == 0.0; MEOW:ref|NP_062057.1| (72%) |species == Mouse; gene == Cyp2c38; score == 679; expect == 0.0; MEOW:MGgn0001822 (71%) |species == Mouse; gene == Cyp2c29; score == 677; expect == 0.0; MEOW:MGgn0001820 (70%) |species == rat; score == 671; expect == 0.0; MEOW:ref|NP_058854.1| (68%) |species == rat; score == 668; expect == 0.0; MEOW:ref|XP_215255.2| (70%) |species == rat; score == 656; expect == 0.0; MEOW:ref|XP_215257.2| (66%) |species == Mouse; gene == Cyp2c50; score == 654; expect == 0.0; MEOW:MGgn0030678 (68%) |species == Mouse; gene == Cyp2c37; score == 648; expect == 0.0; MEOW:MGgn0001821 (67%) |species == rat; score == 621; expect == 2e-178; MEOW:ref|NP_612521.1| (60%) |species == rat; score == 618; expect == 3e-177; MEOW:ref|NP_113760.1| (63%) |species == rat; score == 618; expect == 2e-177; MEOW:ref|XP_217906.2| (70%) |species == Mouse; gene == Cyp2c70; score == 617; expect == 4e-177; MEOW:MGgn0043238 (60%) |species == Mouse; gene == Cyp2c40; score == 609; expect == 6e-175; MEOW:MGgn0001824 (64%) |species == rat; score == 609; expect == 9e-175; MEOW:ref|NP_612523.1| (64%) |species == rat; score == 562; expect == 2e-160; MEOW:ref|XP_346586.1| (61%) |species == Zfish; gene == cyp2ja; score == 377; expect == 8e-105; MEOW:ZFgn0002623 (43%) |species == Fruitfly; gene == Cyp18a1; score == 277; expect == 9.4e-75; MEOW:FBgn0010383 (33%) |species == Worm; gene == C45H4.17; score == 258; expect == 7.0e-69; MEOW:CEgn0006559 (32%) |species == Worm; gene == C45H4.2; score == 255; expect == 4.6e-68; MEOW:CEgn0006545 (32%) |species == Worm; gene == C50H11.15; score == 255; expect == 4.5e-68; MEOW:CEgn0006932 (33%) |species == Worm; gene == F41B5.7; score == 255; expect == 4.2e-68; MEOW:CEgn0010546 (31%) |species == Worm; gene == K05D4.4; score == 252; expect == 2.9e-67; MEOW:CEgn0013272 (31%) |species == Worm; gene == K09A11.2; score == 247; expect == 1.2e-65; MEOW:CEgn0013604 (33%) |species == Worm; gene == K09A11.3; score == 247; expect == 1.2e-65; MEOW:CEgn0013605 (32%) |species == Worm; gene == F44C8.1; score == 246; expect == 2.7e-65; MEOW:CEgn0010812 (33%) |species == Worm; gene == F41B5.3; score == 245; expect == 6.1e-65; MEOW:CEgn0010542 (32%) |species == Worm; gene == F41B5.4; score == 244; expect == 1.1e-64; MEOW:CEgn0010543 (33%) |species == Worm; gene == T10H4.11; score == 238; expect == 5.8e-63; MEOW:CEgn0016020 (31%) |species == Worm; gene == C49C8.4; score == 236; expect == 1.7e-62; MEOW:CEgn0006771 (34%) |species == Worm; gene == B0213.16; score == 232; expect == 3.2e-61; MEOW:CEgn0003234 (31%) |species == Worm; gene == C25E10.2; score == 231; expect == 9.2e-61; MEOW:CEgn0005346 (30%) |species == Worm; gene == B0213.15; score == 229; expect == 3.5e-60; MEOW:CEgn0003233 (31%) |species == Worm; gene == R08F11.3; score == 229; expect == 2.0e-60; MEOW:CEgn0014649 (31%) |species == Worm; gene == C34B7.3; score == 228; expect == 5.9e-60; MEOW:CEgn0005938 (31%) |species == Worm; gene == B0213.10; score == 226; expect == 3.0e-59; MEOW:CEgn0003229 (32%) |species == Worm; gene == C12D5.7; score == 226; expect == 2.9e-59; MEOW:CEgn0004634 (33%) |species == Worm; gene == B0213.14; score == 222; expect == 4.3e-58; MEOW:CEgn0003232 (31%) |species == Worm; gene == F41B5.2; score == 221; expect == 5.2e-58; MEOW:CEgn0010541 (31%) |species == Worm; gene == Y49C4A.9; score == 218; expect == 4.7e-57; MEOW:CEgn0025547 (32%) |species == Worm; gene == K07C6.3; score == 216; expect == 3.1e-56; MEOW:CEgn0013398 (30%) |species == Worm; gene == K09A11.4; score == 216; expect == 2.4e-56; MEOW:CEgn0013606 (33%) |species == Worm; gene == T09H2.1; score == 213; expect == 1.5e-55; MEOW:CEgn0015919 (30%) |species == Worm; gene == F42A9.5; score == 210; expect == 1.7e-54; MEOW:CEgn0010646 (32%) |species == Worm; gene == daf-9; score == 208; expect == 5.6e-54; MEOW:CEgn0000352 (30%) |species == Worm; gene == B0213.11; score == 208; expect == 4.9e-54; MEOW:CEgn0003230 (31%) |species == Worm; gene == B0304.3; score == 207; expect == 1.5e-53; MEOW:CEgn0003372 (30%) |species == Mosquito; gene == LOC21702; score == 178; expect == 7.2e-45; MEOW:AGgn0021702 (28%) |species == Mosquito; score == 175; expect == 6.1e-44; MEOW:AGgn0025243 (28%) |species == Mosquito; score == 174; expect == 1.2e-43; MEOW:AGgn0000677 (29%) |species == Mosquito; gene == LOC18707; score == 169; expect == 2.5e-42; MEOW:AGgn0018707 (28%) |species == chimp; score == 169; expect == 5.9e-44; MEOW:sp|Q8HYN1|Q8HYN1 (29%) |species == Mosquito; gene == LOC24507; score == 168; expect == 3.1e-42; MEOW:AGgn0024507 (27%) |species == Weed; gene == At4g13770; score == 166; expect == 2.8e-41; MEOW:ATgn0018680 (28%) |species == Weed; gene == At1g33720; score == 162; expect == 3.2e-40; MEOW:ATgn0003152 (29%) |species == Mosquito; score == 159; expect == 2.7e-39; MEOW:AGgn0003135 (27%) |species == Weed; gene == At1g13110; score == 156; expect == 3.8e-38; MEOW:ATgn0001115 (29%) |species == Weed; gene == At3g26270; score == 156; expect == 3.8e-38; MEOW:ATgn0012054 (26%) |species == Mosquito; score == 154; expect == 7.8e-38; MEOW:AGgn0029250 (29%) |species == Mosquito; score == 148; expect == 5.5e-36; MEOW:AGgn0005415 (26%) |species == Weed; gene == At3g26180; score == 148; expect == 7.9e-36; MEOW:ATgn0012024 (25%) |species == rice; score == 147; expect == 1.4e-35; MEOW:gnl|TIGR|8353.m03686 (27%) |species == Weed; gene == At3g26170; score == 144; expect == 1.1e-34; MEOW:ATgn0012021 (25%) |species == Weed; gene == At3g48270; score == 142; expect == 5.5e-34; MEOW:ATgn0029278 (24%) |species == Weed; gene == At3g26280; score == 140; expect == 1.7e-33; MEOW:ATgn0012057 (25%) |species == rice; score == 139; expect == 2.8e-33; MEOW:gnl|TIGR|8353.m02178 (26%) |species == Weed; gene == At3g52970; score == 137; expect == 1.9e-32; MEOW:ATgn0012421 (26%) |species == rice; score == 136; expect == 3.2e-32; MEOW:gnl|TIGR|8357.m02325 (29%) |species == Weed; gene == At2g40890; score == 134; expect == 1.2e-31; MEOW:ATgn0010789 (26%) } # EOR GENR { RETE|ID 1 HUgn0001559 CHR 1 10 DID 1 LocusLink:1559 MAP 1 10q24 NAM 1 cytochrome P450, family 2, subfamily C, polypeptide 9 ORG 1 Homo sapiens SYM 1 CYP2C9 ID|HUgn0001559 DID|LocusLink:1559 ORG|Homo sapiens RSQ|REFSEQ:NM_000771 RPA|REFPROT:NP_000762 DBA|XM:NM_000771 |NA:L16880 |NA:L16883 |NA:BC020754 |NA:D00173 |NA:M61855 |NA:M61857 |NA:S46963 PAC|XP:NP_000762 SYM|CYP2C9 NAM|cytochrome P450, family 2, subfamily C, polypeptide 9 SYN|CPC9 |CYP2C10 |P450IIC9 |P450 MP-4 |P450 PB-1 FNC|cytochrome P450, family 2, subfamily C, polypeptide 9 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and its expression is induced by rifampin. |The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, |ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers |of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is |located within a cluster of cytochrome P450 genes on chromosome 10q24. CHR|10 PRD|microsomal monooxygenase |xenobiotic monooxygenase |mephenytoin 4-hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418127 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1559[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131455 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000771 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000771 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418127 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA126 DBL|UNIGENE:Hs.418127 |OMIM:601130 |SNP:1559 |UWCM:131455.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 MAP|10q24 PHP|Tolbutamide poor metabolizer |Warfarin sensitivity HG|species == Human; gene == CYP2C19; score == 862; expect == 0.0; MEOW:HUgn0001557 (91%) |species == Human; gene == CYP2C18; score == 800; expect == 0.0; MEOW:HUgn0001562 (81%) |species == Human; gene == CYP2C8; score == 743; expect == 0.0; MEOW:HUgn0001558 (77%) |species == rat; score == 743; expect == 0.0; MEOW:ref|NP_062057.1| (75%) |species == Mouse; gene == Cyp2c29; score == 742; expect == 0.0; MEOW:MGgn0001820 (76%) |species == rat; score == 739; expect == 0.0; MEOW:ref|XP_219933.2| (77%) |species == Mouse; gene == Cyp2c55; score == 736; expect == 0.0; MEOW:MGgn0019154 (74%) |species == rat; score == 729; expect == 0.0; MEOW:ref|XP_215255.2| (74%) |species == Mouse; gene == Cyp2c39; score == 719; expect == 0.0; MEOW:MGgn0001823 (73%) |species == rat; score == 719; expect == 0.0; MEOW:ref|XP_215257.2| (71%) |species == rat; score == 711; expect == 0.0; MEOW:ref|NP_058854.1| (72%) |species == Mouse; gene == Cyp2c38; score == 704; expect == 0.0; MEOW:MGgn0001822 (72%) |species == Mouse; gene == Cyp2c50; score == 694; expect == 0.0; MEOW:MGgn0030678 (73%) |species == Mouse; gene == Cyp2c37; score == 693; expect == 0.0; MEOW:MGgn0001821 (73%) |species == Mouse; gene == Cyp2c70; score == 642; expect == 0.0; MEOW:MGgn0043238 (62%) |species == rat; score == 642; expect == 0.0; MEOW:ref|NP_612521.1| (62%) |species == rat; score == 641; expect == 0.0; MEOW:ref|NP_612523.1| (66%) |species == rat; score == 640; expect == 0.0; MEOW:ref|XP_217906.2| (72%) |species == rat; score == 632; expect == 0.0; MEOW:ref|NP_113760.1| (66%) |species == Mouse; gene == Cyp2c40; score == 625; expect == 1e-179; MEOW:MGgn0001824 (65%) |species == rat; score == 600; expect == 8e-172; MEOW:ref|XP_346586.1| (62%) |species == Zfish; gene == cyp2ja; score == 359; expect == 2.2e-99; MEOW:ZFgn0002623 (43%) |species == Fruitfly; gene == Cyp18a1; score == 258; expect == 7.7e-69; MEOW:FBgn0010383 (32%) |species == Worm; gene == C49C8.4; score == 254; expect == 5.2e-68; MEOW:CEgn0006771 (35%) |species == Worm; gene == C45H4.17; score == 253; expect == 1.3e-67; MEOW:CEgn0006559 (31%) |species == Worm; gene == C12D5.7; score == 249; expect == 2.2e-66; MEOW:CEgn0004634 (33%) |species == Worm; gene == C45H4.2; score == 247; expect == 1.2e-65; MEOW:CEgn0006545 (31%) |species == Worm; gene == K09A11.3; score == 245; expect == 6.1e-65; MEOW:CEgn0013605 (32%) |species == Worm; gene == C50H11.15; score == 243; expect == 2.3e-64; MEOW:CEgn0006932 (32%) |species == Worm; gene == F41B5.7; score == 241; expect == 8.1e-64; MEOW:CEgn0010546 (32%) |species == Worm; gene == Y49C4A.9; score == 240; expect == 7.8e-64; MEOW:CEgn0025547 (33%) |species == Worm; gene == F42A9.5; score == 236; expect == 1.9e-62; MEOW:CEgn0010646 (34%) |species == Worm; gene == F41B5.3; score == 231; expect == 9.1e-61; MEOW:CEgn0010542 (33%) |species == Worm; gene == F44C8.1; score == 231; expect == 7.0e-61; MEOW:CEgn0010812 (32%) |species == Worm; gene == B0213.14; score == 229; expect == 2.7e-60; MEOW:CEgn0003232 (33%) |species == Worm; gene == K05D4.4; score == 229; expect == 3.5e-60; MEOW:CEgn0013272 (30%) |species == Worm; gene == F41B5.4; score == 228; expect == 4.6e-60; MEOW:CEgn0010543 (31%) |species == Worm; gene == T10H4.11; score == 227; expect == 1.3e-59; MEOW:CEgn0016020 (32%) |species == Worm; gene == C25E10.2; score == 223; expect == 1.9e-58; MEOW:CEgn0005346 (30%) |species == Worm; gene == B0213.10; score == 220; expect == 1.6e-57; MEOW:CEgn0003229 (32%) |species == Worm; gene == B0213.12; score == 219; expect == 3.6e-57; MEOW:CEgn0003231 (33%) |species == Worm; gene == C34B7.3; score == 219; expect == 3.6e-57; MEOW:CEgn0005938 (31%) |species == Worm; gene == B0213.15; score == 218; expect == 4.7e-57; MEOW:CEgn0003233 (30%) |species == Worm; gene == B0213.16; score == 218; expect == 6.2e-57; MEOW:CEgn0003234 (29%) |species == Worm; gene == R08F11.3; score == 216; expect == 1.8e-56; MEOW:CEgn0014649 (29%) |species == Worm; gene == F41B5.2; score == 215; expect == 3.8e-56; MEOW:CEgn0010541 (31%) |species == Worm; gene == B0213.11; score == 206; expect == 1.9e-53; MEOW:CEgn0003230 (30%) |species == Worm; gene == K07C6.3; score == 206; expect == 1.9e-53; MEOW:CEgn0013398 (29%) |species == Worm; gene == daf-9; score == 205; expect == 6.2e-53; MEOW:CEgn0000352 (31%) |species == chimp; score == 193; expect == 1.7e-49; MEOW:sp|Q8HYN1|Q8HYN1 (30%) |species == Mosquito; score == 175; expect == 3.3e-44; MEOW:AGgn0000677 (30%) |species == Mosquito; gene == LOC21702; score == 175; expect == 4.7e-44; MEOW:AGgn0021702 (27%) |species == Mosquito; score == 172; expect == 2.1e-43; MEOW:AGgn0025243 (29%) |species == Mosquito; gene == LOC24507; score == 169; expect == 2.4e-42; MEOW:AGgn0024507 (26%) |species == Weed; gene == At3g26180; score == 167; expect == 1.3e-41; MEOW:ATgn0012024 (28%) |species == Weed; gene == At3g26170; score == 166; expect == 2.8e-41; MEOW:ATgn0012021 (28%) |species == Weed; gene == At3g26200; score == 165; expect == 4.7e-41; MEOW:ATgn0012040 (30%) |species == Weed; gene == At4g13770; score == 160; expect == 2.0e-39; MEOW:ATgn0018680 (28%) |species == Weed; gene == At3g26280; score == 159; expect == 4.5e-39; MEOW:ATgn0012057 (29%) |species == Mosquito; score == 158; expect == 4.2e-39; MEOW:AGgn0029250 (30%) |species == Weed; gene == At1g33720; score == 158; expect == 6.0e-39; MEOW:ATgn0003152 (28%) |species == Weed; gene == At3g26270; score == 158; expect == 7.6e-39; MEOW:ATgn0012054 (27%) |species == Weed; gene == At3g53280; score == 158; expect == 7.5e-39; MEOW:ATgn0012502 (28%) |species == Weed; gene == At3g26190; score == 157; expect == 9.8e-39; MEOW:ATgn0012027 (28%) |species == Mosquito; score == 156; expect == 2.3e-38; MEOW:AGgn0003135 (26%) |species == Weed; gene == At3g44250; score == 155; expect == 6.3e-38; MEOW:ATgn0016094 (29%) |species == Weed; gene == At3g48280; score == 154; expect == 8.3e-38; MEOW:ATgn0028511 (27%) |species == Mosquito; gene == LOC1701; score == 153; expect == 1.0e-37; MEOW:AGgn0001701 (27%) |species == Weed; gene == At1g13110; score == 152; expect == 5.5e-37; MEOW:ATgn0001115 (28%) |species == Weed; gene == At3g48270; score == 152; expect == 3.1e-37; MEOW:ATgn0029278 (27%) |species == Weed; gene == At3g52970; score == 149; expect == 2.8e-36; MEOW:ATgn0012421 (26%) |species == Weed; gene == At3g26150; score == 147; expect == 1.3e-35; MEOW:ATgn0012015 (26%) |species == Weed; gene == At2g45550; score == 146; expect == 3.1e-35; MEOW:ATgn0010006 (28%) |species == Weed; gene == At3g48310; score == 146; expect == 2.9e-35; MEOW:ATgn0028514 (25%) |species == rice; score == 146; expect == 3.0e-35; MEOW:gnl|TIGR|8353.m02178 (28%) |species == Weed; gene == At3g26160; score == 145; expect == 5.1e-35; MEOW:ATgn0012017 (26%) |species == rice; score == 145; expect == 5.2e-35; MEOW:gnl|TIGR|8356.m03844 (27%) |species == Weed; gene == At3g48290; score == 144; expect == 8.4e-35; MEOW:ATgn0028512 (28%) |species == Weed; gene == At5g57220; score == 142; expect == 4.2e-34; MEOW:ATgn0023375 (25%) |species == Weed; gene == At3g26230; score == 141; expect == 1.3e-33; MEOW:ATgn0012043 (29%) |species == Weed; gene == At5g57260; score == 140; expect == 7.3e-33; MEOW:ATgn0023391 (26%) |species == Weed; gene == At5g04630; score == 139; expect == 4.9e-33; MEOW:ATgn0024747 (24%) |species == Weed; gene == At3g26220; score == 138; expect == 8.2e-33; MEOW:ATgn0012042 (27%) |species == rice; score == 138; expect == 1.3e-32; MEOW:gnl|TIGR|8360.m04926 (26%) |species == rice; score == 137; expect == 1.4e-32; MEOW:gnl|TIGR|8357.m02325 (29%) |species == rice; score == 137; expect == 2.3e-32; MEOW:gnl|TIGR|8357.m02326 (27%) |species == rice; score == 137; expect == 2.3e-32; MEOW:gnl|TIGR|8360.m01281 (28%) |species == Weed; gene == At3g26300; score == 136; expect == 2.4e-32; MEOW:ATgn0012070 (24%) |species == rice; score == 136; expect == 5.1e-32; MEOW:gnl|TIGR|8351.m00792 (26%) |species == rice; score == 136; expect == 8.7e-32; MEOW:gnl|TIGR|8357.m02375 (25%) |species == rice; score == 136; expect == 5.1e-32; MEOW:gnl|TIGR|8360.m01283 (26%) |species == rice; score == 135; expect == 1.1e-31; MEOW:gnl|TIGR|8353.m03686 (27%) |species == rice; score == 135; expect == 5.4e-32; MEOW:gnl|TIGR|8360.m04925 (27%) |species == Weed; gene == At5g06900; score == 134; expect == 1.2e-31; MEOW:ATgn0026428 (26%) |species == rice; score == 134; expect == 1.9e-31; MEOW:gnl|TIGR|8351.m00807 (24%) |species == rice; score == 132; expect == 4.8e-31; MEOW:gnl|TIGR|8356.m00043 (26%) } # EOR GENR { RETE|ID 1 HUgn0001562 CHR 1 10 DID 1 LocusLink:1562 MAP 1 10q24 NAM 1 cytochrome P450, family 2, subfamily C, polypeptide 18 ORG 1 Homo sapiens SYM 1 CYP2C18 ID|HUgn0001562 DID|LocusLink:1562 ORG|Homo sapiens RSQ|REFSEQ:NM_000772 RPA|REFPROT:NP_000763 DBA|XM:NM_000772 |NA:AL157835 |NA:M61853 |NA:M61856 |NA:none PAC|XP:NP_000763 SYM|CYP2C18 NAM|cytochrome P450, family 2, subfamily C, polypeptide 18 SYN|CPCI |CYP2C |CYP2C17 |P450IIC17 |P450-6B/29C FNC|cytochrome P450, family 2, subfamily C, polypeptide 18 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum but its specific substrate has not yet been |determined. The gene is located within a cluster of cytochrome P450 genes on chromosome |10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP4217 |is now considered an artefact based on a chimera of CYP4218 and CYP2C19. CHR|10 PRD|microsomal monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17 |cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511872 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1562[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128983 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000772 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000772 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.511872 |OMIM:601131 |SNP:1562 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|10q24 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP2C9; score == 800; expect == 0.0; MEOW:HUgn0001559 (81%) |species == Human; gene == CYP2C19; score == 798; expect == 0.0; MEOW:HUgn0001557 (80%) |species == Mouse; gene == Cyp2c55; score == 766; expect == 0.0; MEOW:MGgn0019154 (76%) |species == Mouse; gene == Cyp2c29; score == 753; expect == 0.0; MEOW:MGgn0001820 (76%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_062057.1| (76%) |species == rat; score == 752; expect == 0.0; MEOW:ref|XP_215255.2| (77%) |species == Human; gene == CYP2C8; score == 743; expect == 0.0; MEOW:HUgn0001558 (77%) |species == rat; score == 743; expect == 0.0; MEOW:ref|XP_219933.2| (76%) |species == Mouse; gene == Cyp2c39; score == 737; expect == 0.0; MEOW:MGgn0001823 (74%) |species == rat; score == 737; expect == 0.0; MEOW:ref|XP_215257.2| (73%) |species == Mouse; gene == Cyp2c38; score == 733; expect == 0.0; MEOW:MGgn0001822 (74%) |species == rat; score == 712; expect == 0.0; MEOW:ref|NP_058854.1| (71%) |species == Mouse; gene == Cyp2c37; score == 709; expect == 0.0; MEOW:MGgn0001821 (73%) |species == Mouse; gene == Cyp2c50; score == 703; expect == 0.0; MEOW:MGgn0030678 (73%) |species == rat; score == 674; expect == 0.0; MEOW:ref|XP_217906.2| (76%) |species == rat; score == 661; expect == 0.0; MEOW:ref|NP_612523.1| (67%) |species == rat; score == 653; expect == 0.0; MEOW:ref|NP_113760.1| (67%) |species == Mouse; gene == Cyp2c40; score == 641; expect == 0.0; MEOW:MGgn0001824 (66%) |species == Mouse; gene == Cyp2c70; score == 635; expect == 0.0; MEOW:MGgn0043238 (61%) |species == rat; score == 635; expect == 0.0; MEOW:ref|NP_612521.1| (62%) |species == Zfish; gene == cyp2ja; score == 373; expect == 1e-103; MEOW:ZFgn0002623 (44%) |species == Fruitfly; gene == Cyp18a1; score == 252; expect == 3.2e-67; MEOW:FBgn0010383 (32%) |species == Worm; gene == C49C8.4; score == 250; expect == 7.6e-67; MEOW:CEgn0006771 (35%) |species == Worm; gene == K09A11.3; score == 249; expect == 2.5e-66; MEOW:CEgn0013605 (32%) |species == Worm; gene == C50H11.15; score == 248; expect == 5.6e-66; MEOW:CEgn0006932 (32%) |species == Worm; gene == C45H4.17; score == 247; expect == 1.2e-65; MEOW:CEgn0006559 (30%) |species == Worm; gene == C45H4.2; score == 246; expect == 1.6e-65; MEOW:CEgn0006545 (31%) |species == Worm; gene == F41B5.7; score == 241; expect == 8.1e-64; MEOW:CEgn0010546 (32%) |species == Worm; gene == Y49C4A.9; score == 241; expect == 3.5e-64; MEOW:CEgn0025547 (32%) |species == Worm; gene == C12D5.7; score == 240; expect == 1.0e-63; MEOW:CEgn0004634 (34%) |species == Worm; gene == K09A11.2; score == 240; expect == 1.9e-63; MEOW:CEgn0013604 (34%) |species == Worm; gene == K05D4.4; score == 236; expect == 2.2e-62; MEOW:CEgn0013272 (30%) |species == Worm; gene == B0213.15; score == 233; expect == 1.9e-61; MEOW:CEgn0003233 (32%) |species == Worm; gene == F42A9.5; score == 233; expect == 1.2e-61; MEOW:CEgn0010646 (33%) |species == Worm; gene == B0213.14; score == 232; expect == 4.1e-61; MEOW:CEgn0003232 (32%) |species == Worm; gene == F44C8.1; score == 230; expect == 1.6e-60; MEOW:CEgn0010812 (33%) |species == Worm; gene == F41B5.3; score == 229; expect == 2.7e-60; MEOW:CEgn0010542 (33%) |species == Worm; gene == F41B5.4; score == 229; expect == 2.1e-60; MEOW:CEgn0010543 (33%) |species == Worm; gene == B0213.16; score == 228; expect == 7.8e-60; MEOW:CEgn0003234 (30%) |species == Worm; gene == C25E10.2; score == 227; expect == 1.3e-59; MEOW:CEgn0005346 (32%) |species == Worm; gene == B0213.10; score == 223; expect == 1.9e-58; MEOW:CEgn0003229 (33%) |species == Worm; gene == C34B7.3; score == 223; expect == 1.5e-58; MEOW:CEgn0005938 (31%) |species == Worm; gene == F41B5.2; score == 222; expect == 3.1e-58; MEOW:CEgn0010541 (32%) |species == Worm; gene == R08F11.3; score == 221; expect == 9.4e-58; MEOW:CEgn0014649 (31%) |species == Worm; gene == T10H4.11; score == 219; expect == 2.8e-57; MEOW:CEgn0016020 (31%) |species == Worm; gene == K09A11.4; score == 216; expect == 1.8e-56; MEOW:CEgn0013606 (33%) |species == Worm; gene == B0213.11; score == 205; expect == 4.1e-53; MEOW:CEgn0003230 (30%) |species == Worm; gene == daf-9; score == 204; expect == 1.1e-52; MEOW:CEgn0000352 (31%) |species == Worm; gene == B0304.3; score == 203; expect == 1.7e-52; MEOW:CEgn0003372 (31%) |species == chimp; score == 197; expect == 1.5e-50; MEOW:sp|Q8HYN1|Q8HYN1 (31%) |species == Mosquito; score == 175; expect == 2.5e-44; MEOW:AGgn0000677 (30%) |species == Mosquito; gene == LOC24507; score == 169; expect == 2.4e-42; MEOW:AGgn0024507 (27%) |species == Mosquito; score == 169; expect == 2.4e-42; MEOW:AGgn0025243 (29%) |species == Mosquito; gene == LOC21702; score == 163; expect == 1.3e-40; MEOW:AGgn0021702 (29%) |species == Mosquito; score == 159; expect == 1.9e-39; MEOW:AGgn0029250 (30%) |species == Weed; gene == At4g13770; score == 159; expect == 3.4e-39; MEOW:ATgn0018680 (28%) |species == Mosquito; gene == LOC18707; score == 158; expect == 4.2e-39; MEOW:AGgn0018707 (28%) |species == Weed; gene == At3g26200; score == 155; expect == 4.8e-38; MEOW:ATgn0012040 (27%) |species == Weed; gene == At3g52970; score == 154; expect == 1.5e-37; MEOW:ATgn0012421 (27%) |species == Mosquito; gene == LOC1701; score == 153; expect == 1.3e-37; MEOW:AGgn0001701 (26%) |species == Weed; gene == At3g26270; score == 153; expect == 2.4e-37; MEOW:ATgn0012054 (26%) |species == Weed; gene == At3g48270; score == 152; expect == 4.1e-37; MEOW:ATgn0029278 (26%) |species == Weed; gene == At3g48280; score == 151; expect == 9.1e-37; MEOW:ATgn0028511 (26%) |species == Weed; gene == At3g26180; score == 149; expect == 2.7e-36; MEOW:ATgn0012024 (26%) |species == Weed; gene == At3g53280; score == 148; expect == 7.7e-36; MEOW:ATgn0012502 (26%) |species == Weed; gene == At3g53300; score == 148; expect == 5.9e-36; MEOW:ATgn0012504 (28%) |species == Weed; gene == At3g44250; score == 148; expect == 5.9e-36; MEOW:ATgn0016094 (27%) |species == Weed; gene == At3g48310; score == 148; expect == 7.7e-36; MEOW:ATgn0028514 (25%) |species == Weed; gene == At3g26280; score == 147; expect == 1.4e-35; MEOW:ATgn0012057 (27%) |species == Weed; gene == At3g26170; score == 146; expect == 2.3e-35; MEOW:ATgn0012021 (26%) |species == rice; score == 145; expect == 5.1e-35; MEOW:gnl|TIGR|8360.m01281 (27%) |species == Weed; gene == At2g45560; score == 144; expect == 1.1e-34; MEOW:ATgn0010008 (28%) |species == Weed; gene == At4g13290; score == 144; expect == 1.1e-34; MEOW:ATgn0017702 (25%) |species == Weed; gene == At5g25120; score == 144; expect == 1.1e-34; MEOW:ATgn0023507 (29%) |species == rice; score == 144; expect == 8.8e-35; MEOW:gnl|TIGR|8356.m03844 (26%) |species == Mosquito; score == 143; expect == 1.4e-34; MEOW:AGgn0003135 (25%) |species == Weed; gene == At1g13110; score == 142; expect == 3.3e-34; MEOW:ATgn0001115 (26%) |species == Weed; gene == At3g48290; score == 136; expect == 3.9e-32; MEOW:ATgn0028512 (27%) |species == rice; score == 135; expect == 1.5e-31; MEOW:gnl|TIGR|8356.m04234 (27%) |species == Weed; gene == At2g45550; score == 134; expect == 1.6e-31; MEOW:ATgn0010006 (26%) |species == Weed; gene == At3g48300; score == 134; expect == 7.3e-32; MEOW:ATgn0028513 (27%) |species == Weed; gene == At3g48320; score == 134; expect == 8.8e-32; MEOW:ATgn0028515 (25%) |species == rice; score == 134; expect == 1.9e-31; MEOW:gnl|TIGR|8357.m02326 (28%) |species == rice; score == 134; expect == 2.5e-31; MEOW:gnl|TIGR|8357.m02375 (25%) |species == Weed; gene == At5g57260; score == 133; expect == 6.8e-31; MEOW:ATgn0023391 (26%) |species == rice; score == 133; expect == 4.3e-31; MEOW:gnl|TIGR|8360.m04926 (26%) |species == Weed; gene == At3g26160; score == 132; expect == 3.4e-31; MEOW:ATgn0012017 (23%) |species == Weed; gene == At3g26220; score == 132; expect == 4.5e-31; MEOW:ATgn0012042 (25%) |species == rice; score == 132; expect == 5.9e-31; MEOW:gnl|TIGR|8351.m03054 (25%) } # EOR GENR { RETE|ID 1 HUgn0001564 CHR 1 22 DID 1 LocusLink:1564 MAP 1 22q13 NAM 1 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 ORG 1 Homo sapiens SYM 1 CYP2D7P1 ID|HUgn0001564 DID|LocusLink:1564 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M33387 SYM|CYP2D7P1 NAM|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 SYN|CYP2D |CYP2D@ |P450C2D |P450DB1 CHR|22 PRD|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 1 MAP|22q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119832 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001565 CHR 1 22 DID 1 LocusLink:1565 MAP 1 22q13.1 NAM 1 cytochrome P450, family 2, subfamily D, polypeptide 6 ORG 1 Homo sapiens SYM 1 CYP2D6 ID|HUgn0001565 DID|LocusLink:1565 ORG|Homo sapiens RSQ|REFSEQ:NM_000106 RPA|REFPROT:NP_000097 DBA|NA:M33189 |NA:M33388 |NA:M20403 |NA:M24499 |NA:X08006 |NA:X16865 |NA:X16866 SYM|CYP2D6 NAM|cytochrome P450, family 2, subfamily D, polypeptide 6 SYN|CPD6 |CYP2D |CYP2D@ |CYP2DL1 |P450C2D |P450-DB1 FNC|cytochrome P450, subfamily IID, polypeptide 6 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and is known to metabolize as many as 20% |of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking |drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an |anti-depressant. The gene is highly polymorphic in the population; certain alleles |result in the poor metabolizer phenotype, characterized by a decreased ability to |metabolize the enzyme's substrates. The gene is located near two cytochrome P450 |pseudogenes on chromosome 22q13.1. CHR|22 PRD|microsomal monooxygenase |xenobiotic monooxygenase |debrisoquine 4-hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1 |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333497 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132127 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000106 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000106 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA128 DBL|UNIGENE:Hs.333497 |OMIM:124030 |SNP:1565 |UWCM:rch/132127. |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |cytochrome P450 activity ; GO:0015034 MAP|22q13.1 PHP|?Parkinsonism, susceptibility to |Debrisoquine sensitivity HG|species == rat; score == 751; expect == 0.0; MEOW:ref|NP_612524.1| (77%) |species == Mouse; gene == Cyp2d22; score == 745; expect == 0.0; MEOW:MGgn0028026 (75%) |species == rat; score == 728; expect == 0.0; MEOW:ref|NP_775116.1| (72%) |species == Mouse; gene == 1300007K12Rik; score == 726; expect == 0.0; MEOW:MGgn0016649 (72%) |species == Mouse; gene == Cyp2d9; score == 711; expect == 0.0; MEOW:MGgn0001830 (70%) |species == Mouse; gene == Cyp2d26; score == 695; expect == 0.0; MEOW:MGgn0016636 (71%) |species == Mouse; gene == Cyp2d10; score == 681; expect == 0.0; MEOW:MGgn0001826 (70%) |species == rat; score == 676; expect == 0.0; MEOW:ref|NP_695225.1| (72%) |species == rat; score == 674; expect == 0.0; MEOW:ref|NP_775426.1| (71%) |species == rat; score == 669; expect == 0.0; MEOW:ref|NP_036862.1| (72%) |species == Human; gene == CYP2J2; score == 375; expect == 2e-104; MEOW:HUgn0001573 (42%) |species == Zfish; gene == cyp2ja; score == 349; expect == 1.6e-97; MEOW:ZFgn0002623 (44%) |species == Human; gene == CYP2C8; score == 328; expect == 5.5e-90; MEOW:HUgn0001558 (41%) |species == Human; gene == CYP2C19; score == 318; expect == 4.4e-87; MEOW:HUgn0001557 (40%) |species == Human; gene == CYP2C18; score == 316; expect == 2.2e-86; MEOW:HUgn0001562 (40%) |species == Human; gene == CYP2C9; score == 315; expect == 3.7e-86; MEOW:HUgn0001559 (41%) |species == Human; gene == CYP2E1; score == 311; expect == 7.0e-85; MEOW:HUgn0001571 (39%) |species == Human; gene == CYP2B6; score == 310; expect == 1.2e-84; MEOW:HUgn0001555 (39%) |species == Human; gene == CYP2F1; score == 307; expect == 1.3e-83; MEOW:HUgn0001572 (40%) |species == Fruitfly; gene == Cyp18a1; score == 276; expect == 2.1e-74; MEOW:FBgn0010383 (34%) |species == Worm; gene == C50H11.15; score == 248; expect == 5.6e-66; MEOW:CEgn0006932 (33%) |species == Worm; gene == K09A11.3; score == 247; expect == 9.4e-66; MEOW:CEgn0013605 (33%) |species == Worm; gene == B0304.3; score == 238; expect == 4.0e-63; MEOW:CEgn0003372 (33%) |species == Worm; gene == F41B5.4; score == 234; expect == 1.1e-61; MEOW:CEgn0010543 (32%) |species == Worm; gene == F44C8.1; score == 234; expect == 1.1e-61; MEOW:CEgn0010812 (32%) |species == Worm; gene == F41B5.7; score == 233; expect == 1.7e-61; MEOW:CEgn0010546 (30%) |species == Worm; gene == C45H4.2; score == 231; expect == 7.0e-61; MEOW:CEgn0006545 (31%) |species == Worm; gene == K09A11.2; score == 230; expect == 1.2e-60; MEOW:CEgn0013604 (31%) |species == Worm; gene == K09A11.4; score == 230; expect == 1.2e-60; MEOW:CEgn0013606 (36%) |species == Worm; gene == C34B7.3; score == 225; expect == 3.8e-59; MEOW:CEgn0005938 (29%) |species == Worm; gene == F41B5.3; score == 224; expect == 8.5e-59; MEOW:CEgn0010542 (32%) |species == Worm; gene == Y49C4A.9; score == 223; expect == 1.7e-58; MEOW:CEgn0025547 (33%) |species == Worm; gene == C12D5.7; score == 220; expect == 1.2e-57; MEOW:CEgn0004634 (31%) |species == Worm; gene == C49C8.4; score == 219; expect == 1.9e-57; MEOW:CEgn0006771 (31%) |species == Worm; gene == daf-9; score == 208; expect == 5.6e-54; MEOW:CEgn0000352 (31%) |species == Mosquito; score == 200; expect == 9.7e-52; MEOW:AGgn0000677 (33%) |species == Mosquito; gene == LOC21702; score == 200; expect == 9.7e-52; MEOW:AGgn0021702 (32%) |species == Mosquito; score == 195; expect == 2.4e-50; MEOW:AGgn0029250 (35%) |species == Mosquito; score == 194; expect == 5.3e-50; MEOW:AGgn0025243 (33%) |species == Mosquito; gene == LOC1701; score == 183; expect == 1.2e-46; MEOW:AGgn0001701 (30%) |species == chimp; score == 181; expect == 2.0e-47; MEOW:sp|Q8HYN1|Q8HYN1 (27%) |species == Mosquito; gene == LOC18707; score == 179; expect == 2.3e-45; MEOW:AGgn0018707 (31%) |species == Mosquito; score == 168; expect == 3.1e-42; MEOW:AGgn0026398 (33%) |species == Weed; gene == TT7; score == 161; expect == 6.8e-40; MEOW:ATgn0021861 (28%) |species == rice; score == 147; expect == 2.2e-35; MEOW:gnl|TIGR|8362.m01215 (27%) |species == rice; score == 146; expect == 5.0e-35; MEOW:gnl|TIGR|8360.m01297 (28%) |species == rice; score == 144; expect == 3.2e-34; MEOW:gnl|TIGR|8351.m00787 (28%) |species == rice; score == 144; expect == 2.5e-34; MEOW:gnl|TIGR|8351.m00799 (29%) |species == rice; score == 143; expect == 5.5e-34; MEOW:gnl|TIGR|8362.m01188 (26%) |species == Weed; gene == At3g26210; score == 141; expect == 9.6e-34; MEOW:ATgn0012041 (26%) |species == rice; score == 140; expect == 3.6e-33; MEOW:gnl|TIGR|8351.m00807 (26%) |species == rice; score == 140; expect == 2.3e-33; MEOW:gnl|TIGR|8359.m03106 (26%) |species == Weed; gene == At3g26200; score == 139; expect == 4.8e-33; MEOW:ATgn0012040 (26%) |species == Weed; gene == At5g57220; score == 139; expect == 4.7e-33; MEOW:ATgn0023375 (24%) |species == rice; score == 139; expect == 6.1e-33; MEOW:gnl|TIGR|8357.m02375 (27%) |species == Weed; gene == At2g40890; score == 137; expect == 1.8e-32; MEOW:ATgn0010789 (28%) |species == Weed; gene == At3g53280; score == 137; expect == 1.8e-32; MEOW:ATgn0012502 (26%) |species == rice; score == 137; expect == 2.3e-32; MEOW:gnl|TIGR|8351.m00789 (27%) |species == rice; score == 137; expect == 3.0e-32; MEOW:gnl|TIGR|8351.m00791 (29%) |species == Weed; gene == At3g44250; score == 136; expect == 2.4e-32; MEOW:ATgn0016094 (28%) |species == rice; score == 136; expect == 2.5e-32; MEOW:gnl|TIGR|8356.m04234 (26%) |species == Weed; gene == At1g13090; score == 134; expect == 1.2e-31; MEOW:ATgn0001110 (26%) |species == Weed; gene == CA4H; score == 133; expect == 2.0e-31; MEOW:ATgn0007898 (24%) |species == rice; score == 133; expect == 2.0e-31; MEOW:gnl|TIGR|8360.m01281 (25%) |species == Weed; gene == At3g26190; score == 132; expect == 5.8e-31; MEOW:ATgn0012027 (26%) } # EOR GENR { RETE|ID 1 HUgn0001566 CHR 1 22 DID 1 LocusLink:1566 MAP 1 22q13.31 NAM 1 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 ORG 1 Homo sapiens SYM 1 CYP2D8P2 ID|HUgn0001566 DID|LocusLink:1566 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X58467 SYM|CYP2D8P2 NAM|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 SYN|CYP2D7AP CHR|22 PRD|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2 |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2 |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7a (pseudogene) MAP|22q13.31 DBL|SNP:1566 |DRNELSON:CytochromeP450.html URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135503 } # EOR GENR { RETE|ID 1 HUgn0001567 CHR 1 22 DID 1 LocusLink:1567 MAP 1 22 NAM 1 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 ORG 1 Homo sapiens SYM 1 CYP2D7P2 ID|HUgn0001567 DID|LocusLink:1567 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X58468 SYM|CYP2D7P2 NAM|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 SYN|CYP2D7BP CHR|22 PRD|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2 |cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene) |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene) MAP|22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135504 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001568 CHR 1 22 DID 1 LocusLink:1568 MAP 1 22q12.3-qter NAM 1 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 ORG 1 Homo sapiens SYM 1 CYP2D8P1 ID|HUgn0001568 DID|LocusLink:1568 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M33387 SYM|CYP2D8P1 NAM|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 SYN|CYP2D8P |CYP2DP1 CHR|22 PRD|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) pseudogene 1 |cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 8 (pseudogene) MAP|22q12.3-qter DBL|SNP:1568 |DRNELSON:CytochromeP450.html URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125367 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132128 } # EOR GENR { RETE|ID 1 HUgn0001571 CHR 1 10 DID 1 LocusLink:1571 MAP 1 10q24.3-qter NAM 1 cytochrome P450, family 2, subfamily E, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP2E1 ID|HUgn0001571 DID|LocusLink:1571 ORG|Homo sapiens RSQ|REFSEQ:NM_000773 RPA|REFPROT:NP_000764 DBA|XM:NM_000773 |NA:D10014 |NA:D50111 |NA:J02843 |NA:AF084225 |NA:AF182276 |NA:J02625 |NA:S77873 |NA:none PAC|XP:NP_000764 SYM|CYP2E1 NAM|cytochrome P450, family 2, subfamily E, polypeptide 1 SYN|CPE1 |CYP2E |P450-J |P450C2E FNC|cytochrome P450, family 2, subfamily E, polypeptide 1 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, |and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, |acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, |ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. |Due to its many substrates, this enzyme may be involved in such varied processes |as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. CHR|10 PRD|microsomal monooxygenase |xenobiotic monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIE (ethanol-inducible) |cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75183 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1571[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119833 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000773 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000773 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA129 DBL|UNIGENE:Hs.75183 |OMIM:124040 |SNP:1571 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|10q24.3-qter CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 805; expect == 0.0; MEOW:ref|NP_113731.1| (78%) |species == Mouse; gene == Cyp2e1; score == 792; expect == 0.0; MEOW:MGgn0001831 (78%) |species == Human; gene == CYP2C19; score == 570; expect == 8e-163; MEOW:HUgn0001557 (58%) |species == Human; gene == CYP2C18; score == 561; expect == 4e-160; MEOW:HUgn0001562 (58%) |species == Human; gene == CYP2C9; score == 557; expect == 7e-159; MEOW:HUgn0001559 (58%) |species == Human; gene == CYP2C8; score == 537; expect == 5e-153; MEOW:HUgn0001558 (56%) |species == Human; gene == CYP2F1; score == 473; expect == 1e-133; MEOW:HUgn0001572 (49%) |species == Zfish; gene == cyp2ja; score == 366; expect == 2e-101; MEOW:ZFgn0002623 (43%) |species == Fruitfly; gene == Cyp18a1; score == 271; expect == 5.2e-73; MEOW:FBgn0010383 (33%) |species == Worm; gene == C45H4.17; score == 260; expect == 1.4e-69; MEOW:CEgn0006559 (32%) |species == Worm; gene == C45H4.2; score == 259; expect == 2.4e-69; MEOW:CEgn0006545 (33%) |species == Worm; gene == C50H11.15; score == 254; expect == 7.7e-68; MEOW:CEgn0006932 (34%) |species == Worm; gene == K09A11.3; score == 251; expect == 8.5e-67; MEOW:CEgn0013605 (32%) |species == Worm; gene == F41B5.7; score == 239; expect == 3.1e-63; MEOW:CEgn0010546 (31%) |species == Worm; gene == K09A11.2; score == 231; expect == 6.9e-61; MEOW:CEgn0013604 (32%) |species == Worm; gene == C49C8.4; score == 230; expect == 1.1e-60; MEOW:CEgn0006771 (33%) |species == Worm; gene == F41B5.3; score == 230; expect == 1.6e-60; MEOW:CEgn0010542 (31%) |species == Worm; gene == K05D4.4; score == 230; expect == 1.5e-60; MEOW:CEgn0013272 (32%) |species == Worm; gene == F41B5.4; score == 229; expect == 2.1e-60; MEOW:CEgn0010543 (32%) |species == Worm; gene == F41B5.2; score == 228; expect == 3.1e-60; MEOW:CEgn0010541 (33%) |species == Worm; gene == F44C8.1; score == 228; expect == 5.9e-60; MEOW:CEgn0010812 (31%) |species == Worm; gene == K09A11.4; score == 228; expect == 4.0e-60; MEOW:CEgn0013606 (33%) |species == Worm; gene == R08F11.3; score == 225; expect == 2.6e-59; MEOW:CEgn0014649 (32%) |species == Worm; gene == Y49C4A.9; score == 221; expect == 6.5e-58; MEOW:CEgn0025547 (31%) |species == Worm; gene == C25E10.2; score == 214; expect == 8.9e-56; MEOW:CEgn0005346 (31%) |species == Worm; gene == C12D5.7; score == 211; expect == 5.7e-55; MEOW:CEgn0004634 (32%) |species == Worm; gene == Y5H2B.6; score == 208; expect == 5.3e-54; MEOW:CEgn0025423 (30%) |species == Mosquito; gene == LOC1701; score == 187; expect == 8.4e-48; MEOW:AGgn0001701 (30%) |species == Mosquito; score == 186; expect == 1.4e-47; MEOW:AGgn0000677 (30%) |species == Mosquito; score == 184; expect == 4.2e-47; MEOW:AGgn0025243 (30%) |species == chimp; score == 181; expect == 1.5e-47; MEOW:sp|Q8HYN1|Q8HYN1 (30%) |species == Mosquito; gene == LOC24507; score == 177; expect == 8.7e-45; MEOW:AGgn0024507 (28%) |species == Mosquito; score == 174; expect == 1.1e-43; MEOW:AGgn0003135 (29%) |species == Mosquito; score == 174; expect == 4.3e-44; MEOW:AGgn0029250 (31%) |species == Mosquito; gene == LOC21702; score == 171; expect == 6.2e-43; MEOW:AGgn0021702 (28%) |species == Mosquito; gene == LOC18707; score == 162; expect == 2.9e-40; MEOW:AGgn0018707 (27%) |species == Weed; gene == At4g13770; score == 155; expect == 4.9e-38; MEOW:ATgn0018680 (28%) |species == Mosquito; score == 153; expect == 1.0e-37; MEOW:AGgn0026398 (30%) |species == Mosquito; score == 152; expect == 4.9e-37; MEOW:AGgn0005415 (28%) |species == rice; score == 140; expect == 4.6e-33; MEOW:gnl|TIGR|8357.m02375 (27%) |species == Weed; gene == At3g26280; score == 139; expect == 4.8e-33; MEOW:ATgn0012057 (27%) |species == Weed; gene == At3g26270; score == 137; expect == 1.4e-32; MEOW:ATgn0012054 (25%) |species == Weed; gene == At2g45560; score == 135; expect == 6.8e-32; MEOW:ATgn0010008 (26%) } # EOR GENR { RETE|ID 1 HUgn0001572 CHR 1 19 DID 1 LocusLink:1572 MAP 1 19q13.2 NAM 1 cytochrome P450, family 2, subfamily F, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP2F1 ID|HUgn0001572 DID|LocusLink:1572 ORG|Homo sapiens RSQ|REFSEQ:NM_000774 RPA|REFPROT:NP_000765 DBA|XM:NM_000774 |NA:J02906 |NA:none PAC|XP:NP_000765 SYM|CYP2F1 NAM|cytochrome P450, family 2, subfamily F, polypeptide 1 SYN|C2F1 |CYP2F FNC|cytochrome P450, family 2, subfamily F, polypeptide 1 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, |an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic |substrates such as naphthalene and ethoxycoumarin. This gene is part of a large |cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on |chromosome 19q. CHR|19 PRD|microsomal monooxygenase |xenobiotic monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIF, polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=363140 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119834 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000774 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000774 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.363140 |OMIM:124070 |SNP:1572 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|19q13.2 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 804; expect == 0.0; MEOW:ref|NP_062176.1| (83%) |species == Mouse; gene == Cyp2f2; score == 790; expect == 0.0; MEOW:MGgn0001832 (81%) |species == Human; gene == CYP2A13; score == 520; expect == 8e-148; MEOW:HUgn0001553 (53%) |species == Human; gene == CYP2A6; score == 502; expect == 2e-142; MEOW:HUgn0001548 (53%) |species == Human; gene == CYP2C18; score == 500; expect == 1e-141; MEOW:HUgn0001562 (52%) |species == Human; gene == CYP2A7; score == 495; expect == 3e-140; MEOW:HUgn0001549 (51%) |species == Human; gene == CYP2C19; score == 495; expect == 3e-140; MEOW:HUgn0001557 (51%) |species == Human; gene == CYP2C8; score == 486; expect == 2e-137; MEOW:HUgn0001558 (51%) |species == Human; gene == CYP2C9; score == 481; expect == 5e-136; MEOW:HUgn0001559 (50%) |species == Human; gene == CYP2E1; score == 473; expect == 1e-133; MEOW:HUgn0001571 (49%) |species == Human; gene == CYP2B6; score == 468; expect == 3e-132; MEOW:HUgn0001555 (49%) |species == Zfish; gene == cyp2ja; score == 374; expect == 3e-105; MEOW:ZFgn0002623 (42%) |species == Fruitfly; gene == Cyp18a1; score == 278; expect == 5.5e-75; MEOW:FBgn0010383 (34%) |species == Worm; gene == C49C8.4; score == 239; expect == 1.7e-63; MEOW:CEgn0006771 (34%) |species == Worm; gene == F42A9.5; score == 228; expect == 3.1e-60; MEOW:CEgn0010646 (32%) |species == Worm; gene == Y49C4A.9; score == 228; expect == 3.1e-60; MEOW:CEgn0025547 (32%) |species == Worm; gene == C50H11.15; score == 227; expect == 9.0e-60; MEOW:CEgn0006932 (33%) |species == Worm; gene == C25E10.2; score == 222; expect == 3.3e-58; MEOW:CEgn0005346 (32%) |species == Worm; gene == K09A11.4; score == 222; expect == 2.9e-58; MEOW:CEgn0013606 (34%) |species == Worm; gene == T10H4.11; score == 219; expect == 3.6e-57; MEOW:CEgn0016020 (32%) |species == Worm; gene == C12D5.7; score == 212; expect == 2.3e-55; MEOW:CEgn0004634 (32%) |species == Worm; gene == K09A11.3; score == 211; expect == 3.9e-55; MEOW:CEgn0013605 (32%) |species == Worm; gene == C45H4.17; score == 210; expect == 1.1e-54; MEOW:CEgn0006559 (31%) |species == Worm; gene == B0304.3; score == 209; expect == 1.9e-54; MEOW:CEgn0003372 (31%) |species == Worm; gene == R08F11.3; score == 209; expect == 1.5e-54; MEOW:CEgn0014649 (30%) |species == Worm; gene == B0213.16; score == 208; expect == 4.9e-54; MEOW:CEgn0003234 (29%) |species == Worm; gene == B0213.11; score == 206; expect == 2.4e-53; MEOW:CEgn0003230 (30%) |species == Worm; gene == B0213.15; score == 206; expect == 2.4e-53; MEOW:CEgn0003233 (28%) |species == Mosquito; gene == LOC21702; score == 204; expect == 6.6e-53; MEOW:AGgn0021702 (31%) |species == Worm; gene == B0213.14; score == 201; expect == 6.0e-52; MEOW:CEgn0003232 (29%) |species == Worm; gene == B0213.12; score == 196; expect == 3.3e-50; MEOW:CEgn0003231 (30%) |species == Worm; gene == B0213.10; score == 194; expect == 1.2e-49; MEOW:CEgn0003229 (29%) |species == Worm; gene == T09H2.1; score == 193; expect == 2.1e-49; MEOW:CEgn0015919 (30%) |species == Mosquito; score == 191; expect == 3.4e-49; MEOW:AGgn0000677 (31%) |species == Mosquito; score == 188; expect == 3.8e-48; MEOW:AGgn0025243 (30%) |species == chimp; score == 183; expect == 3.0e-48; MEOW:sp|Q8HYN1|Q8HYN1 (30%) |species == Mosquito; gene == LOC18707; score == 177; expect == 8.7e-45; MEOW:AGgn0018707 (29%) |species == Mosquito; score == 172; expect == 1.6e-43; MEOW:AGgn0029250 (29%) |species == Mosquito; gene == LOC24507; score == 164; expect == 7.6e-41; MEOW:AGgn0024507 (28%) |species == rice; score == 149; expect == 2.7e-36; MEOW:gnl|TIGR|8356.m03844 (29%) |species == rice; score == 138; expect == 6.2e-33; MEOW:gnl|TIGR|8353.m02178 (26%) |species == Weed; gene == At4g22710; score == 137; expect == 1.0e-32; MEOW:ATgn0020732 (26%) |species == Weed; gene == At4g12300; score == 135; expect == 6.8e-32; MEOW:ATgn0020380 (26%) |species == Weed; gene == At4g22690; score == 135; expect == 5.2e-32; MEOW:ATgn0020728 (25%) |species == Weed; gene == At3g26280; score == 134; expect == 1.5e-31; MEOW:ATgn0012057 (28%) |species == Weed; gene == At3g48280; score == 134; expect == 1.5e-31; MEOW:ATgn0028511 (27%) |species == Weed; gene == At4g12310; score == 133; expect == 2.6e-31; MEOW:ATgn0020384 (26%) |species == Weed; gene == At3g26270; score == 132; expect == 4.5e-31; MEOW:ATgn0012054 (27%) |species == Weed; gene == At2g45550; score == 131; expect == 9.8e-31; MEOW:ATgn0010006 (27%) |species == Weed; gene == At3g44250; score == 131; expect == 7.5e-31; MEOW:ATgn0016094 (27%) } # EOR GENR { RETE|ID 1 HUgn0001573 CHR 1 1 DID 1 LocusLink:1573 MAP 1 1p31.3-p31.2 NAM 1 cytochrome P450, family 2, subfamily J, polypeptide 2 ORG 1 Homo sapiens SYM 1 CYP2J2 ID|HUgn0001573 DID|LocusLink:1573 ORG|Homo sapiens RSQ|REFSEQ:NM_000775 RPA|REFPROT:NP_000766 DBA|XM:NM_000775 |NA:AB080265 |NA:AF144566 |NA:AK055088 |NA:BC032594 |NA:U37143 |NA:none PAC|XP:NP_000766 SYM|CYP2J2 NAM|cytochrome P450, family 2, subfamily J, polypeptide 2 SYN|CPJ2 FNC|cytochrome P450, family 2, subfamily J, polypeptide 2 |regulation of heart rate ; GO:0008016 |electron transport ; GO:0006118 |icosanoid metabolism ; GO:0006690 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and is thought to be the predominant enzyme |responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. CHR|1 PRD|microsomal monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=152096 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1573[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1320397 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000775 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000775 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=152096 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.152096 |OMIM:601258 |SNP:1573 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |arachidonic acid epoxygenase activity ; GO:0008392 |unspecific monooxygenase activity ; GO:0050381 MAP|1p31.3-p31.2 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 783; expect == 0.0; MEOW:ref|NP_075414.1| (76%) |species == Mouse; gene == Cyp2j6; score == 777; expect == 0.0; MEOW:MGgn0001835 (76%) |species == Mouse; gene == Cyp2j9; score == 765; expect == 0.0; MEOW:MGgn0026761 (72%) |species == rat; score == 764; expect == 0.0; MEOW:ref|NP_786942.1| (74%) |species == rat; score == 742; expect == 0.0; MEOW:ref|XP_233199.2| (72%) |species == Mouse; gene == Cyp2j5; score == 724; expect == 0.0; MEOW:MGgn0001834 (71%) |species == rat; score == 670; expect == 0.0; MEOW:ref|XP_233198.2| (67%) |species == Zfish; gene == cyp2ja; score == 486; expect == 5e-139; MEOW:ZFgn0002623 (50%) |species == Human; gene == CYP2F1; score == 395; expect == 4e-110; MEOW:HUgn0001572 (41%) |species == Human; gene == CYP2A13; score == 391; expect == 7e-109; MEOW:HUgn0001553 (41%) |species == Human; gene == CYP2A6; score == 384; expect == 7e-107; MEOW:HUgn0001548 (40%) |species == Human; gene == CYP2B6; score == 382; expect == 2e-106; MEOW:HUgn0001555 (43%) |species == Human; gene == CYP2A7; score == 375; expect == 2e-104; MEOW:HUgn0001549 (41%) |species == Human; gene == CYP2D6; score == 375; expect == 2e-104; MEOW:HUgn0001565 (42%) |species == Human; gene == CYP2C8; score == 368; expect == 4e-102; MEOW:HUgn0001558 (39%) |species == Human; gene == CYP2E1; score == 364; expect == 9e-101; MEOW:HUgn0001571 (40%) |species == Human; gene == CYP2C18; score == 363; expect == 2e-100; MEOW:HUgn0001562 (40%) |species == Human; gene == CYP2R1; score == 330; expect == 8.1e-91; MEOW:HUgn0120227 (45%) |species == Fruitfly; gene == Cyp18a1; score == 275; expect == 2.5e-74; MEOW:FBgn0010383 (33%) |species == Worm; gene == R08F11.3; score == 271; expect == 3.3e-73; MEOW:CEgn0014649 (35%) |species == Worm; gene == C49C8.4; score == 269; expect == 2.1e-72; MEOW:CEgn0006771 (34%) |species == Worm; gene == C45H4.17; score == 260; expect == 1.3e-69; MEOW:CEgn0006559 (32%) |species == Worm; gene == K05D4.4; score == 260; expect == 9.8e-70; MEOW:CEgn0013272 (33%) |species == Worm; gene == B0304.3; score == 258; expect == 4.9e-69; MEOW:CEgn0003372 (35%) |species == Worm; gene == F41B5.4; score == 258; expect == 4.9e-69; MEOW:CEgn0010543 (34%) |species == Worm; gene == C45H4.2; score == 255; expect == 4.1e-68; MEOW:CEgn0006545 (32%) |species == Worm; gene == F41B5.3; score == 253; expect == 1.6e-67; MEOW:CEgn0010542 (32%) |species == Worm; gene == F44C8.1; score == 253; expect == 1.2e-67; MEOW:CEgn0010812 (33%) |species == Worm; gene == K09A11.4; score == 253; expect == 1.2e-67; MEOW:CEgn0013606 (35%) |species == Worm; gene == C50H11.15; score == 247; expect == 9.5e-66; MEOW:CEgn0006932 (32%) |species == Mosquito; gene == LOC21702; score == 246; expect == 1.2e-65; MEOW:AGgn0021702 (33%) |species == Worm; gene == K09A11.2; score == 244; expect == 1.0e-64; MEOW:CEgn0013604 (33%) |species == Worm; gene == F41B5.7; score == 241; expect == 8.1e-64; MEOW:CEgn0010546 (33%) |species == Worm; gene == K09A11.3; score == 241; expect == 8.8e-64; MEOW:CEgn0013605 (33%) |species == Fruitfly; gene == Cyp305a1; score == 239; expect == 1.5e-63; MEOW:FBgn0036910 (32%) |species == Mosquito; score == 237; expect == 7.3e-63; MEOW:AGgn0025243 (33%) |species == Worm; gene == F41B5.2; score == 229; expect == 2.5e-60; MEOW:CEgn0010541 (33%) |species == Worm; gene == C12D5.7; score == 222; expect == 3.2e-58; MEOW:CEgn0004634 (32%) |species == Mosquito; score == 221; expect == 5.4e-58; MEOW:AGgn0000677 (34%) |species == Worm; gene == C34B7.3; score == 220; expect == 1.2e-57; MEOW:CEgn0005938 (31%) |species == Mosquito; score == 216; expect == 1.7e-56; MEOW:AGgn0029250 (37%) |species == Mosquito; gene == LOC18707; score == 213; expect == 1.5e-55; MEOW:AGgn0018707 (29%) |species == Mosquito; gene == LOC1701; score == 209; expect == 1.6e-54; MEOW:AGgn0001701 (28%) |species == Mosquito; score == 204; expect == 4.0e-53; MEOW:AGgn0003135 (29%) |species == chimp; score == 197; expect == 2.7e-52; MEOW:sp|Q8HYN1|Q8HYN1 (28%) |species == Weed; gene == FAH1; score == 181; expect == 8.5e-46; MEOW:ATgn0017296 (27%) |species == Weed; gene == At4g22710; score == 179; expect == 4.2e-45; MEOW:ATgn0020732 (25%) |species == Weed; gene == At4g22690; score == 174; expect == 7.9e-44; MEOW:ATgn0020728 (25%) |species == Weed; gene == At2g45570; score == 171; expect == 6.7e-43; MEOW:ATgn0010010 (29%) |species == Weed; gene == At3g26270; score == 169; expect == 3.3e-42; MEOW:ATgn0012054 (27%) |species == Weed; gene == At3g26280; score == 166; expect == 2.8e-41; MEOW:ATgn0012057 (26%) |species == rice; score == 166; expect == 6.2e-41; MEOW:gnl|TIGR|8357.m02325 (27%) |species == Weed; gene == At5g67310; score == 164; expect == 8.2e-41; MEOW:ATgn0026477 (27%) |species == rice; score == 163; expect == 5.2e-40; MEOW:gnl|TIGR|8357.m02326 (26%) |species == Weed; gene == At2g45550; score == 161; expect == 9.1e-40; MEOW:ATgn0010006 (27%) |species == Weed; gene == At4g13770; score == 161; expect == 6.9e-40; MEOW:ATgn0018680 (26%) |species == Weed; gene == At4g12300; score == 161; expect == 1.2e-39; MEOW:ATgn0020380 (24%) |species == rice; score == 161; expect == 2.0e-39; MEOW:gnl|TIGR|8357.m02327 (27%) |species == Weed; gene == At1g33720; score == 159; expect == 2.7e-39; MEOW:ATgn0003152 (27%) |species == rice; score == 159; expect == 7.6e-39; MEOW:gnl|TIGR|8350.m04669 (25%) |species == rice; score == 158; expect == 1.7e-38; MEOW:gnl|TIGR|8357.m02375 (27%) |species == rice; score == 157; expect == 2.2e-38; MEOW:gnl|TIGR|8356.m03430 (27%) |species == Weed; gene == At3g26170; score == 155; expect == 4.9e-38; MEOW:ATgn0012021 (26%) |species == Weed; gene == At2g23190; score == 154; expect == 1.6e-37; MEOW:ATgn0007406 (27%) |species == Weed; gene == At5g57220; score == 154; expect == 8.2e-38; MEOW:ATgn0023375 (26%) |species == Weed; gene == At3g26180; score == 153; expect == 2.5e-37; MEOW:ATgn0012024 (26%) |species == Weed; gene == At3g26160; score == 152; expect == 4.2e-37; MEOW:ATgn0012017 (27%) |species == rice; score == 152; expect == 1.2e-36; MEOW:gnl|TIGR|8351.m00807 (24%) |species == rice; score == 152; expect == 9.2e-37; MEOW:gnl|TIGR|8351.m03392 (25%) |species == rice; score == 152; expect == 7.1e-37; MEOW:gnl|TIGR|8360.m00116 (26%) |species == rice; score == 151; expect == 2.7e-36; MEOW:gnl|TIGR|8359.m03106 (27%) |species == Weed; gene == At3g26150; score == 149; expect == 3.5e-36; MEOW:ATgn0012015 (26%) |species == rice; score == 140; expect == 2.8e-33; MEOW:gnl|TIGR|8351.m03054 (24%) |species == rice; score == 140; expect == 2.1e-33; MEOW:gnl|TIGR|8353.m02178 (26%) |species == rice; score == 138; expect == 6.6e-33; MEOW:gnl|TIGR|8362.m02286 (24%) |species == rice; score == 137; expect == 1.8e-32; MEOW:gnl|TIGR|8356.m03844 (25%) } # EOR GENR { RETE|ID 1 HUgn0001574 CHR 1 7 DID 1 LocusLink:1574 MAP 1 7q21.3-q22.1 NAM 1 cytochrome P450, family 3, subfamily A ORG 1 Homo sapiens SYM 1 CYP3A ID|HUgn0001574 DID|LocusLink:1574 ORG|Homo sapiens DBA|NA:AC005020 |NA:AC011904 |NA:AC073063 |NA:AF280107 SYM|CYP3A NAM|cytochrome P450, family 3, subfamily A SYN|CYP3 REAB|The CYP3A locus includes all the known members of the 3A subfamily of the cytochrome |P450 superfamily of genes. These genes encode monooxygenases which catalyze many |reactions involved in drug metabolism and synthesis of cholesterol, steroids and |other lipids. The CYP3A cluster consists of four genes, CYP3A43, CYP3A4, CYP3A7 |and CYP3A5. The region also contains two pseudogenes, CYP3A5P1 and CYP3A5P2, as |well as several extra exons which may or may not be included in transcripts produced |from this region. Previously another CYP3A member, CYP3A3, was thought to exist; |however, it is now thought that this sequence represents a transcript variant of |CYP3A4. CHR|7 PRD|cytochrome P450, subfamily IIIA (niphedipine oxidase) ENZ|EC:5.2.1.8 MAP|7q21.3-q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119835 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27114 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001576 CHR 1 7 DID 1 LocusLink:1576 MAP 1 7q21.1 NAM 1 cytochrome P450, family 3, subfamily A, polypeptide 4 ORG 1 Homo sapiens SYM 1 CYP3A4 ID|HUgn0001576 DID|LocusLink:1576 ORG|Homo sapiens RSQ|REFSEQ:NM_017460 RPA|REFPROT:NP_059488 DBA|XM:NM_017460 |XM:NM_017460 |NA:AF209389 |NA:AF280107 |NA:AF307089 |NA:D11131 |NA:AF182273 |NA:AJ563375 |NA:AJ563376 |NA:AJ563377 |NA:D00003 |NA:J04449 |NA:M13785 |NA:M14096 |NA:M18907 |NA:X12387 PAC|XP:NP_059488 |XP:NP_059488 SYM|CYP3A4 NAM|cytochrome P450, family 3, subfamily A, polypeptide 4 SYN|HLP |CP33 |CP34 |CYP3A |NF-25 |CYP3A3 |P450C3 |P450PCN1 FNC|cytochrome P450, subfamily IIIA, polypeptide 4 |lipid metabolism ; GO:0006629 |oncogenesis ; GO:0007048 REAB|This gene, CYP3A4, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |protein localizes to the endoplasmic reticulum and its expression is induced by |glucocorticoids and some pharmacological agents. This enzyme is involved in the |metabolism of approximately half the drugs which are are used today, including acetaminophen, |codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some |steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes |on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; |however, it is now thought that this sequence represents a transcript variant of |CYP3A4. CHR|7 PRD|nifedipine oxidase |P450-III, steroid inducible |glucocorticoid-inducible P450 |cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3 |cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442527 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1576[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118782 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017460 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017460 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA130 DBL|UNIGENE:Hs.442527 |OMIM:124010 |SNP:1576 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 MAP|7q21.1 CEL|microsome ; GO:0005792 HG|species == Human; gene == CYP3A7; score == 879; expect == 0.0; MEOW:HUgn0001551 (88%) |species == Human; gene == CYP3A5; score == 819; expect == 0.0; MEOW:HUgn0001577 (84%) |species == rat; score == 764; expect == 0.0; MEOW:ref|NP_671739.1| (76%) |species == Mouse; gene == Cyp3a41; score == 763; expect == 0.0; MEOW:MGgn0014025 (71%) |species == Mouse; gene == Cyp3a13; score == 748; expect == 0.0; MEOW:MGgn0001838 (75%) |species == Human; gene == CYP3A43; score == 742; expect == 0.0; MEOW:HUgn0064816 (75%) |species == Mouse; gene == Cyp3a11; score == 734; expect == 0.0; MEOW:MGgn0001837 (72%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_775167.1| (73%) |species == Mouse; gene == Cyp3a16; score == 729; expect == 0.0; MEOW:MGgn0001839 (71%) |species == Mouse; gene == Cyp3a25; score == 719; expect == 0.0; MEOW:MGgn0028501 (71%) |species == rat; score == 719; expect == 0.0; MEOW:ref|NP_037237.1| (72%) |species == rat; score == 719; expect == 0.0; MEOW:ref|NP_695224.2| (71%) |species == rat; score == 703; expect == 0.0; MEOW:ref|NP_665725.1| (68%) |species == Mouse; gene == Cyp3a44; score == 697; expect == 0.0; MEOW:MGgn0043243 (69%) |species == Fruitfly; gene == Cyp9f2; score == 270; expect == 1.4e-72; MEOW:FBgn0038037 (33%) |species == Mosquito; score == 267; expect == 1.3e-71; MEOW:AGgn0028190 (33%) |species == Mosquito; score == 262; expect == 3.2e-70; MEOW:AGgn0014604 (33%) |species == Fruitfly; gene == Cyp6a14; score == 258; expect == 2.4e-69; MEOW:FBgn0033302 (34%) |species == Fruitfly; gene == Cyp6g1; score == 254; expect == 6.0e-68; MEOW:FBgn0025454 (33%) |species == Mosquito; gene == LOC23315; score == 249; expect == 2.5e-66; MEOW:AGgn0023315 (32%) |species == Fruitfly; gene == Cyp6a23; score == 248; expect == 7.3e-66; MEOW:FBgn0033978 (35%) |species == Mosquito; score == 246; expect == 1.6e-65; MEOW:AGgn0016801 (32%) |species == Fruitfly; gene == Cyp6w1; score == 246; expect == 1.7e-65; MEOW:FBgn0033065 (30%) |species == Mosquito; gene == LOC23679; score == 243; expect == 1.3e-64; MEOW:AGgn0023679 (32%) |species == Mosquito; gene == LOC24642; score == 241; expect == 3.0e-64; MEOW:AGgn0024642 (32%) |species == Fruitfly; gene == Cyp9c1; score == 241; expect == 5.5e-64; MEOW:FBgn0015040 (31%) |species == Fruitfly; gene == Cyp6a17; score == 241; expect == 5.3e-64; MEOW:FBgn0015714 (33%) |species == Fruitfly; gene == Cyp9b2; score == 239; expect == 3.4e-63; MEOW:FBgn0015039 (32%) |species == Mosquito; gene == LOC16824; score == 238; expect == 7.2e-63; MEOW:AGgn0016824 (32%) |species == Mosquito; gene == LOC16219; score == 237; expect == 1.3e-62; MEOW:AGgn0016219 (34%) |species == Fruitfly; gene == Cyp6g2; score == 236; expect == 2.3e-62; MEOW:FBgn0033696 (30%) |species == Mosquito; gene == LOC22003; score == 234; expect == 1.1e-61; MEOW:AGgn0022003 (33%) |species == Mosquito; score == 234; expect == 6.2e-62; MEOW:AGgn0029507 (34%) |species == Fruitfly; gene == Cyp6a2; score == 233; expect == 2.5e-61; MEOW:FBgn0000473 (32%) |species == Fruitfly; gene == Cyp6a13; score == 233; expect == 2.4e-61; MEOW:FBgn0033304 (32%) |species == Fruitfly; gene == Cyp6a18; score == 233; expect == 1.9e-61; MEOW:FBgn0039519 (31%) |species == Mosquito; score == 232; expect == 4.0e-61; MEOW:AGgn0025224 (31%) |species == Mosquito; gene == LOC12482; score == 231; expect == 9.1e-61; MEOW:AGgn0012482 (34%) |species == Mosquito; gene == LOC12610; score == 230; expect == 1.8e-60; MEOW:AGgn0012610 (35%) |species == Mosquito; score == 230; expect == 1.6e-60; MEOW:AGgn0025421 (33%) |species == Mosquito; gene == LOC16967; score == 228; expect == 4.7e-60; MEOW:AGgn0016967 (32%) |species == Mosquito; score == 227; expect == 1.3e-59; MEOW:AGgn0029449 (31%) |species == Mosquito; score == 226; expect == 2.3e-59; MEOW:AGgn0026204 (29%) |species == Worm; gene == F14F7.3; score == 226; expect == 1.8e-59; MEOW:CEgn0008446 (32%) |species == Worm; gene == T10B9.1; score == 226; expect == 2.1e-59; MEOW:CEgn0015930 (31%) |species == Mosquito; score == 225; expect == 3.8e-59; MEOW:AGgn0015257 (32%) |species == Mosquito; score == 224; expect == 8.7e-59; MEOW:AGgn0026844 (30%) |species == Mosquito; gene == LOC24832; score == 223; expect == 1.9e-58; MEOW:AGgn0024832 (30%) |species == Mosquito; score == 222; expect == 4.4e-58; MEOW:AGgn0029433 (32%) |species == Mosquito; gene == LOC23997; score == 221; expect == 5.7e-58; MEOW:AGgn0023997 (35%) |species == Worm; gene == T10B9.8; score == 221; expect == 3.9e-58; MEOW:CEgn0015936 (29%) |species == Fruitfly; gene == Cyp6d4; score == 221; expect == 9.9e-58; MEOW:FBgn0039006 (33%) |species == Mosquito; score == 219; expect == 2.7e-57; MEOW:AGgn0006812 (30%) |species == Fruitfly; gene == Cyp6a20; score == 219; expect == 2.8e-57; MEOW:FBgn0033980 (31%) |species == Worm; gene == C36A4.1; score == 218; expect == 3.3e-57; MEOW:CEgn0006081 (31%) |species == Fruitfly; gene == Cyp6a9; score == 218; expect == 6.2e-57; MEOW:FBgn0013771 (31%) |species == Mosquito; gene == LOC16180; score == 216; expect == 2.4e-56; MEOW:AGgn0016180 (31%) |species == Worm; gene == T10B9.5; score == 216; expect == 1.6e-56; MEOW:CEgn0015934 (29%) |species == Fruitfly; gene == Cyp6v1; score == 216; expect == 3.2e-56; MEOW:FBgn0031126 (32%) |species == Fruitfly; gene == Cyp6d2; score == 216; expect == 3.2e-56; MEOW:FBgn0034756 (29%) |species == Worm; gene == C36A4.2; score == 215; expect == 4.2e-56; MEOW:CEgn0006082 (30%) |species == Mosquito; score == 214; expect == 7.1e-56; MEOW:AGgn0003535 (32%) |species == Mosquito; gene == LOC22010; score == 214; expect == 7.2e-56; MEOW:AGgn0022010 (32%) |species == Worm; gene == T10B9.2; score == 214; expect == 4.7e-56; MEOW:CEgn0015931 (31%) |species == Worm; gene == F14F7.2; score == 212; expect == 2.4e-55; MEOW:CEgn0008445 (31%) |species == Worm; gene == T10B9.3; score == 212; expect == 2.4e-55; MEOW:CEgn0015932 (29%) |species == Worm; gene == T10B9.7; score == 203; expect == 2.1e-52; MEOW:CEgn0015935 (30%) |species == Worm; gene == ZK1320.4; score == 190; expect == 1.5e-48; MEOW:CEgn0021491 (26%) |species == Worm; gene == C36A4.6; score == 189; expect == 3.1e-48; MEOW:CEgn0006085 (28%) |species == Weed; gene == At2g26170; score == 184; expect == 1.0e-46; MEOW:ATgn0009709 (28%) |species == rice; score == 172; expect == 5.3e-43; MEOW:gnl|TIGR|8350.m04680 (26%) |species == rice; score == 164; expect == 8.5e-41; MEOW:gnl|TIGR|8355.m04212 (29%) |species == rice; score == 161; expect == 9.4e-40; MEOW:gnl|TIGR|8355.m02105 (29%) |species == Weed; gene == At3g14620; score == 159; expect == 4.6e-39; MEOW:ATgn0012579 (29%) |species == rice; score == 157; expect == 1.0e-38; MEOW:gnl|TIGR|8350.m04901 (26%) |species == rice; score == 155; expect == 5.4e-38; MEOW:gnl|TIGR|8350.m03841 (27%) |species == rice; score == 155; expect == 1.4e-37; MEOW:gnl|TIGR|8360.m02304 (28%) |species == rice; score == 153; expect == 5.4e-37; MEOW:gnl|TIGR|8355.m04209 (28%) |species == Weed; gene == At4g27710; score == 152; expect == 5.7e-37; MEOW:ATgn0018449 (26%) |species == rice; score == 147; expect == 1.6e-35; MEOW:gnl|TIGR|8353.m02668 (25%) |species == rice; score == 147; expect == 1.4e-35; MEOW:gnl|TIGR|8355.m04211 (28%) |species == rice; score == 146; expect == 4.4e-35; MEOW:gnl|TIGR|8350.m03842 (27%) |species == rice; score == 141; expect == 2.8e-33; MEOW:gnl|TIGR|8350.m02288 (24%) } # EOR GENR { RETE|ID 1 HUgn0001577 CHR 1 7 DID 1 LocusLink:1577 MAP 1 7q21.1 NAM 1 cytochrome P450, family 3, subfamily A, polypeptide 5 ORG 1 Homo sapiens SYM 1 CYP3A5 ID|HUgn0001577 DID|LocusLink:1577 ORG|Homo sapiens RSQ|REFSEQ:NM_000777 RPA|REFPROT:NP_000768 DBA|XM:NM_000777 |XM:NM_000777 |NA:AF280107 |NA:AF355801 |NA:BC022298 |NA:BC025176 |NA:BC026255 |NA:BC033862 |NA:BX537676 |NA:J04813 |NA:L26985 |NA:none PAC|XP:NP_000768 |XP:NP_000768 SYM|CYP3A5 NAM|cytochrome P450, family 3, subfamily A, polypeptide 5 SYN|CP35 |PCN3 |P450PCN3 FNC|cytochrome P450, family 3, subfamily A, polypeptide 5 |steroid metabolism ; GO:0008202 |electron transport ; GO:0006118 REAB|This gene,CYP3A5, encodes a member of the cytochrome P450 superfamily of enzymes. |The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved |in drug metabolism and synthesis of cholesterol, steroids and other lipids. This |protein localizes to the endoplasmic reticulum and its expression is induced by |glucocorticoids and some pharmacological agents. The enzyme metabolizes drugs such |as nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone |and androstenedione. This gene is part of a cluster of cytochrome P450 genes on |chromosome 7q21.1. This cluster includes a pseudogene, CYP3A5P1, which is very similar |to CYP3A5. This similarity has caused some difficulty in determining whether cloned |sequences represent the gene or the pseudogene. CHR|7 PRD|niphedipine oxidase |microsomal monooxygenase |xenobiotic monooxygenase |aryl hydrocarbon hydroxylase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150276 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118783 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000777 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000777 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150276 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA131 DBL|UNIGENE:Hs.150276 |OMIM:605325 |SNP:1577 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|7q21.1 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == CYP3A7; score == 820; expect == 0.0; MEOW:HUgn0001551 (81%) |species == Human; gene == CYP3A4; score == 819; expect == 0.0; MEOW:HUgn0001576 (84%) |species == Mouse; gene == Cyp3a41; score == 769; expect == 0.0; MEOW:MGgn0014025 (71%) |species == Mouse; gene == Cyp3a16; score == 728; expect == 0.0; MEOW:MGgn0001839 (70%) |species == Human; gene == CYP3A43; score == 726; expect == 0.0; MEOW:HUgn0064816 (75%) |species == Mouse; gene == Cyp3a11; score == 726; expect == 0.0; MEOW:MGgn0001837 (72%) |species == rat; score == 713; expect == 0.0; MEOW:ref|NP_671739.1| (75%) |species == rat; score == 711; expect == 0.0; MEOW:ref|NP_665725.1| (68%) |species == Mouse; gene == Cyp3a13; score == 703; expect == 0.0; MEOW:MGgn0001838 (74%) |species == Mouse; gene == Cyp3a44; score == 692; expect == 0.0; MEOW:MGgn0043243 (70%) |species == rat; score == 691; expect == 0.0; MEOW:ref|NP_695224.2| (70%) |species == rat; score == 689; expect == 0.0; MEOW:ref|NP_775167.1| (72%) |species == Mouse; gene == Cyp3a25; score == 685; expect == 0.0; MEOW:MGgn0028501 (71%) |species == rat; score == 676; expect == 0.0; MEOW:ref|NP_037237.1| (71%) |species == Fruitfly; gene == Cyp9f2; score == 263; expect == 2.3e-70; MEOW:FBgn0038037 (32%) |species == Fruitfly; gene == Cyp6a17; score == 253; expect == 1.7e-67; MEOW:FBgn0015714 (34%) |species == Fruitfly; gene == Cyp6a23; score == 250; expect == 1.5e-66; MEOW:FBgn0033978 (34%) |species == Mosquito; score == 248; expect == 8.1e-66; MEOW:AGgn0014604 (32%) |species == Fruitfly; gene == Cyp9c1; score == 247; expect == 1.3e-65; MEOW:FBgn0015040 (32%) |species == Mosquito; score == 246; expect == 2.4e-65; MEOW:AGgn0028190 (31%) |species == Mosquito; score == 243; expect == 2.4e-64; MEOW:AGgn0016801 (33%) |species == Mosquito; gene == LOC16219; score == 242; expect == 4.1e-64; MEOW:AGgn0016219 (33%) |species == Mosquito; gene == LOC22003; score == 242; expect == 3.1e-64; MEOW:AGgn0022003 (32%) |species == Mosquito; score == 242; expect == 2.3e-64; MEOW:AGgn0029507 (34%) |species == Fruitfly; gene == Cyp6w1; score == 240; expect == 1.6e-63; MEOW:FBgn0033065 (29%) |species == Mosquito; score == 237; expect == 9.4e-63; MEOW:AGgn0025224 (32%) |species == Fruitfly; gene == Cyp6a2; score == 235; expect == 6.5e-62; MEOW:FBgn0000473 (32%) |species == Fruitfly; gene == Cyp6a13; score == 234; expect == 1.1e-61; MEOW:FBgn0033304 (32%) |species == Fruitfly; gene == Cyp6a18; score == 233; expect == 1.4e-61; MEOW:FBgn0039519 (31%) |species == Mosquito; gene == LOC23997; score == 232; expect == 1.8e-61; MEOW:AGgn0023997 (34%) |species == Fruitfly; gene == Cyp6g1; score == 232; expect == 2.4e-61; MEOW:FBgn0025454 (33%) |species == Fruitfly; gene == Cyp6a14; score == 232; expect == 4.2e-61; MEOW:FBgn0033302 (32%) |species == Mosquito; gene == LOC23315; score == 231; expect == 7.2e-61; MEOW:AGgn0023315 (30%) |species == Mosquito; gene == LOC16967; score == 230; expect == 1.6e-60; MEOW:AGgn0016967 (31%) |species == Mosquito; score == 230; expect == 1.6e-60; MEOW:AGgn0026844 (31%) |species == Fruitfly; gene == Cyp6g2; score == 230; expect == 1.3e-60; MEOW:FBgn0033696 (29%) |species == Worm; gene == T10B9.1; score == 229; expect == 3.7e-60; MEOW:CEgn0015930 (32%) |species == Fruitfly; gene == Cyp9b2; score == 229; expect == 3.5e-60; MEOW:FBgn0015039 (31%) |species == Mosquito; gene == LOC16180; score == 227; expect == 7.5e-60; MEOW:AGgn0016180 (32%) |species == Mosquito; gene == LOC16824; score == 227; expect == 1.3e-59; MEOW:AGgn0016824 (33%) |species == Mosquito; gene == LOC24642; score == 227; expect == 7.5e-60; MEOW:AGgn0024642 (32%) |species == Worm; gene == F14F7.3; score == 226; expect == 2.4e-59; MEOW:CEgn0008446 (31%) |species == Fruitfly; gene == Cyp6d4; score == 226; expect == 2.4e-59; MEOW:FBgn0039006 (31%) |species == Mosquito; gene == LOC24832; score == 225; expect == 5.1e-59; MEOW:AGgn0024832 (31%) |species == Mosquito; score == 225; expect == 5.1e-59; MEOW:AGgn0026204 (29%) |species == Fruitfly; gene == Cyp6v1; score == 225; expect == 5.3e-59; MEOW:FBgn0031126 (33%) |species == Fruitfly; gene == Cyp6a9; score == 223; expect == 1.5e-58; MEOW:FBgn0013771 (32%) |species == Mosquito; score == 221; expect == 9.4e-58; MEOW:AGgn0029449 (31%) |species == Worm; gene == T10B9.2; score == 221; expect == 1.0e-57; MEOW:CEgn0015931 (31%) |species == Mosquito; gene == LOC12482; score == 220; expect == 1.2e-57; MEOW:AGgn0012482 (32%) |species == Mosquito; score == 220; expect == 1.2e-57; MEOW:AGgn0015257 (31%) |species == Mosquito; score == 219; expect == 2.7e-57; MEOW:AGgn0006812 (29%) |species == Mosquito; gene == LOC12610; score == 219; expect == 2.5e-57; MEOW:AGgn0012610 (32%) |species == Mosquito; score == 218; expect == 4.8e-57; MEOW:AGgn0029433 (30%) |species == Fruitfly; gene == Cyp6a19; score == 217; expect == 1.4e-56; MEOW:FBgn0033979 (32%) |species == Mosquito; score == 215; expect == 5.4e-56; MEOW:AGgn0025421 (31%) |species == Mosquito; score == 214; expect == 9.3e-56; MEOW:AGgn0003535 (33%) |species == Mosquito; gene == LOC23972; score == 214; expect == 6.9e-56; MEOW:AGgn0023972 (32%) |species == Fruitfly; gene == Cyp6d2; score == 214; expect == 7.0e-56; MEOW:FBgn0034756 (28%) |species == Mosquito; gene == LOC22010; score == 213; expect == 2.7e-55; MEOW:AGgn0022010 (31%) |species == Mosquito; gene == LOC24672; score == 213; expect == 1.5e-55; MEOW:AGgn0024672 (31%) |species == Fruitfly; gene == Cyp9b1; score == 213; expect == 1.5e-55; MEOW:FBgn0015038 (29%) |species == Worm; gene == F14F7.2; score == 212; expect == 3.5e-55; MEOW:CEgn0008445 (32%) |species == Worm; gene == T10B9.8; score == 212; expect == 3.6e-55; MEOW:CEgn0015936 (30%) |species == Mosquito; gene == LOC23679; score == 211; expect == 1.0e-54; MEOW:AGgn0023679 (30%) |species == Fruitfly; gene == Cyp6a20; score == 211; expect == 9.9e-55; MEOW:FBgn0033980 (31%) |species == Worm; gene == C36A4.2; score == 209; expect == 4.0e-54; MEOW:CEgn0006082 (29%) |species == Mosquito; gene == LOC24998; score == 208; expect == 5.0e-54; MEOW:AGgn0024998 (29%) |species == Mosquito; score == 206; expect == 2.4e-53; MEOW:AGgn0027201 (29%) |species == Worm; gene == C36A4.1; score == 205; expect == 5.6e-53; MEOW:CEgn0006081 (29%) |species == Mosquito; gene == LOC21857; score == 204; expect == 9.1e-53; MEOW:AGgn0021857 (29%) |species == Mosquito; score == 203; expect == 1.3e-52; MEOW:AGgn0003527 (36%) |species == Mosquito; gene == LOC18526; score == 202; expect == 4.2e-52; MEOW:AGgn0018526 (31%) |species == Worm; gene == T10B9.3; score == 202; expect == 3.7e-52; MEOW:CEgn0015932 (28%) |species == Mosquito; gene == LOC21816; score == 201; expect == 1.0e-51; MEOW:AGgn0021816 (31%) |species == Worm; gene == T10B9.5; score == 201; expect == 1.1e-51; MEOW:CEgn0015934 (29%) |species == Worm; gene == ZK1320.4; score == 200; expect == 1.4e-51; MEOW:CEgn0021491 (27%) |species == Mosquito; gene == LOC22815; score == 199; expect == 2.9e-51; MEOW:AGgn0022815 (29%) |species == Worm; gene == T10B9.7; score == 198; expect == 5.3e-51; MEOW:CEgn0015935 (29%) |species == Worm; gene == C36A4.6; score == 194; expect == 7.3e-50; MEOW:CEgn0006085 (28%) |species == rice; score == 169; expect == 2.6e-42; MEOW:gnl|TIGR|8350.m04680 (27%) |species == rice; score == 166; expect == 3.9e-41; MEOW:gnl|TIGR|8350.m04036 (29%) |species == rice; score == 164; expect == 8.8e-41; MEOW:gnl|TIGR|8350.m03841 (28%) |species == rice; score == 163; expect == 2.5e-40; MEOW:gnl|TIGR|8355.m04212 (29%) |species == Weed; gene == At2g26170; score == 162; expect == 3.1e-40; MEOW:ATgn0009709 (26%) |species == Weed; gene == At3g14620; score == 157; expect == 1.8e-38; MEOW:ATgn0012579 (28%) |species == rice; score == 157; expect == 1.8e-38; MEOW:gnl|TIGR|8355.m02105 (29%) |species == rice; score == 152; expect == 1.2e-36; MEOW:gnl|TIGR|8355.m04327 (29%) |species == rice; score == 151; expect == 8.0e-37; MEOW:gnl|TIGR|8350.m03842 (27%) |species == rice; score == 149; expect == 2.8e-36; MEOW:gnl|TIGR|8360.m02304 (28%) |species == rice; score == 148; expect == 6.4e-36; MEOW:gnl|TIGR|8355.m04211 (28%) |species == Weed; gene == At3g14630; score == 147; expect == 1.4e-35; MEOW:ATgn0012593 (26%) |species == rice; score == 146; expect == 4.2e-35; MEOW:gnl|TIGR|8350.m04039 (27%) |species == rice; score == 145; expect == 1.5e-34; MEOW:gnl|TIGR|8355.m04209 (27%) |species == Weed; gene == At1g31800; score == 142; expect == 7.0e-34; MEOW:ATgn0001327 (25%) |species == Weed; gene == At3g14610; score == 142; expect == 5.8e-34; MEOW:ATgn0012578 (25%) |species == rice; score == 141; expect == 1.6e-33; MEOW:gnl|TIGR|8350.m04046 (25%) |species == rice; score == 139; expect == 4.7e-33; MEOW:gnl|TIGR|8350.m04033 (25%) |species == Weed; gene == At2g46950; score == 135; expect == 7.2e-32; MEOW:ATgn0011128 (25%) |species == Weed; gene == At3g26300; score == 134; expect == 1.2e-31; MEOW:ATgn0012070 (24%) |species == Weed; gene == At5g35715; score == 132; expect == 3.7e-31; MEOW:ATgn0030710 (31%) } # EOR GENR { RETE|ID 1 HUgn0001578 CHR 1 7 DID 1 LocusLink:1578 MAP 1 7q22.1 NAM 1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 ORG 1 Homo sapiens SYM 1 CYP3A5P1 ID|HUgn0001578 DID|LocusLink:1578 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF315320 |NA:L35912 |NA:S74699 |NA:S74700 SYM|CYP3A5P1 NAM|cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 CHR|7 PRD|cytochrome P450, subfamily IIIA (niphedipine oxidase), pseudogene 1 |cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5 pseudogene 1 MAP|7q22.1 DBL|SNP:1578 |DRNELSON:CytochromeP450.html URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:574123 } # EOR GENR { RETE|ID 1 HUgn0001579 CHR 1 1 DID 1 LocusLink:1579 MAP 1 1p33 NAM 1 cytochrome P450, family 4, subfamily A, polypeptide 11 ORG 1 Homo sapiens SYM 1 CYP4A11 ID|HUgn0001579 DID|LocusLink:1579 ORG|Homo sapiens RSQ|REFSEQ:NM_000778 RPA|REFPROT:NP_000769 DBA|XM:NM_000778 |NA:AF208532 |NA:BC022851 |NA:BC041158 |NA:D13705 |NA:D26481 |NA:L04751 |NA:S67580 |NA:S67581 |NA:X71480 |NA:none PAC|XP:NP_000769 SYM|CYP4A11 NAM|cytochrome P450, family 4, subfamily A, polypeptide 11 SYN|CP4Y |CYP4A2 |CYP4AII FNC|cytochrome P450, family 4, subfamily A, polypeptide 11 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids |such as laurate and myristate. CHR|1 PRD|P450HL-omega |alkane-1 monooxygenase |fatty acid omega-hydroxylase |lauric acid omega-hydroxylase |cytochrome P450, subfamily IVA, polypeptide 11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1645 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=448993 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1579[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138467 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000778 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000778 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1645 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=448993 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.1645 |UNIGENE:Hs.448993 |OMIM:601310 |SNP:1579 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.15.3 |fatty acid (omega-1)-hydroxylase activity ; GO:0008393 |alkane 1-monooxygenase activity ; GO:0018685 MAP|1p33 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Human; gene == LOC284541; score == 953; expect == 0.0; MEOW:HUgn0284541 (92%) |species == Mouse; gene == Cyp4a12; score == 800; expect == 0.0; MEOW:MGgn0001843 (77%) |species == rat; score == 792; expect == 0.0; MEOW:ref|NP_786936.1| (73%) |species == rat; score == 788; expect == 0.0; MEOW:ref|NP_787031.1| (77%) |species == Mouse; gene == Cyp4a14; score == 780; expect == 0.0; MEOW:MGgn0001844 (72%) |species == Mosquito; gene == LOC19301; score == 276; expect == 1.5e-74; MEOW:AGgn0019301 (33%) |species == Fruitfly; gene == Cyp4s3; score == 273; expect == 1.3e-73; MEOW:FBgn0030615 (37%) |species == Fruitfly; gene == Cyp4c3; score == 268; expect == 4.3e-72; MEOW:FBgn0015032 (33%) |species == Worm; gene == Y17G9B.3; score == 264; expect == 7.7e-71; MEOW:CEgn0018060 (33%) |species == Mosquito; gene == LOC14843; score == 261; expect == 2.9e-70; MEOW:AGgn0014843 (39%) |species == Mosquito; gene == LOC20095; score == 261; expect == 6.5e-70; MEOW:AGgn0020095 (34%) |species == Mosquito; gene == LOC10492; score == 258; expect == 4.1e-69; MEOW:AGgn0010492 (35%) |species == Fruitfly; gene == Cyp4d1; score == 258; expect == 2.5e-69; MEOW:FBgn0005670 (32%) |species == Mosquito; gene == LOC19496; score == 256; expect == 1.6e-68; MEOW:AGgn0019496 (36%) |species == Mosquito; gene == LOC10558; score == 254; expect == 1.0e-67; MEOW:AGgn0010558 (31%) |species == Mosquito; score == 248; expect == 2.5e-66; MEOW:AGgn0010494 (32%) |species == Fruitfly; gene == Cyp4d2; score == 248; expect == 2.6e-66; MEOW:FBgn0011576 (36%) |species == Mosquito; gene == LOC22378; score == 246; expect == 1.2e-65; MEOW:AGgn0022378 (36%) |species == Mosquito; score == 240; expect == 1.6e-63; MEOW:AGgn0020821 (34%) |species == Mosquito; score == 237; expect == 1.1e-62; MEOW:AGgn0027559 (34%) |species == Worm; gene == Y80D3A.5; score == 235; expect == 3.5e-62; MEOW:CEgn0020011 (35%) |species == Mosquito; score == 231; expect == 6.9e-61; MEOW:AGgn0002214 (34%) |species == Mosquito; gene == LOC8167; score == 231; expect == 5.5e-61; MEOW:AGgn0008167 (34%) |species == Worm; gene == Y38C9B.1; score == 228; expect == 4.3e-60; MEOW:CEgn0018277 (32%) |species == Mosquito; gene == LOC24957; score == 227; expect == 9.7e-60; MEOW:AGgn0024957 (35%) |species == Worm; gene == B0331.1; score == 227; expect == 9.6e-60; MEOW:CEgn0003383 (31%) |species == Mosquito; gene == LOC19380; score == 226; expect == 1.6e-59; MEOW:AGgn0019380 (32%) |species == Worm; gene == F01D5.9; score == 226; expect == 1.6e-59; MEOW:CEgn0007653 (34%) |species == Fruitfly; gene == Cyp4d8; score == 226; expect == 1.4e-59; MEOW:FBgn0015033 (32%) |species == Mosquito; gene == LOC19843; score == 225; expect == 2.8e-59; MEOW:AGgn0019843 (34%) |species == Mosquito; gene == LOC23901; score == 224; expect == 6.7e-59; MEOW:AGgn0023901 (31%) |species == Fruitfly; gene == Cyp4d20; score == 224; expect == 1.2e-58; MEOW:FBgn0035344 (33%) |species == Mosquito; gene == LOC14254; score == 222; expect == 3.6e-58; MEOW:AGgn0014254 (30%) |species == Mosquito; gene == LOC20233; score == 221; expect == 5.4e-58; MEOW:AGgn0020233 (33%) |species == Worm; gene == F28G4.1; score == 216; expect == 2.2e-56; MEOW:CEgn0009580 (31%) |species == Weed; gene == At2g26710; score == 174; expect == 8.3e-44; MEOW:ATgn0009801 (27%) |species == rice; score == 170; expect == 3.4e-42; MEOW:gnl|TIGR|8350.m02288 (29%) |species == Weed; gene == At5g52400; score == 167; expect == 1.3e-41; MEOW:ATgn0025154 (28%) |species == Weed; gene == At4g15110; score == 159; expect == 3.6e-39; MEOW:ATgn0019601 (27%) |species == rice; score == 159; expect == 2.8e-39; MEOW:gnl|TIGR|8350.m03841 (29%) |species == Weed; gene == At3g14680; score == 158; expect == 6.0e-39; MEOW:ATgn0012603 (27%) |species == rice; score == 158; expect == 1.8e-38; MEOW:gnl|TIGR|8350.m04036 (29%) |species == Weed; gene == At3g14690; score == 157; expect == 1.3e-38; MEOW:ATgn0012605 (28%) |species == Weed; gene == At5g24900; score == 157; expect == 1.4e-38; MEOW:ATgn0023445 (28%) |species == rice; score == 157; expect == 3.9e-38; MEOW:gnl|TIGR|8350.m04045 (29%) |species == rice; score == 155; expect == 1.5e-37; MEOW:gnl|TIGR|8351.m00683 (27%) |species == rice; score == 155; expect == 1.5e-37; MEOW:gnl|TIGR|8351.m05562 (26%) |species == Weed; gene == At3g14650; score == 154; expect == 8.7e-38; MEOW:ATgn0012597 (28%) |species == Weed; gene == At5g24910; score == 150; expect == 1.7e-36; MEOW:ATgn0023446 (29%) |species == rice; score == 148; expect == 1.4e-35; MEOW:gnl|TIGR|8355.m04214 (30%) |species == rice; score == 148; expect == 1.4e-35; MEOW:gnl|TIGR|8360.m02304 (28%) |species == Weed; gene == At3g14610; score == 147; expect == 1.4e-35; MEOW:ATgn0012578 (26%) |species == rice; score == 147; expect == 1.5e-35; MEOW:gnl|TIGR|8350.m03842 (28%) |species == rice; score == 147; expect == 1.7e-35; MEOW:gnl|TIGR|8351.m00972 (26%) |species == rice; score == 140; expect == 1.6e-33; MEOW:gnl|TIGR|8350.m04033 (27%) |species == rice; score == 140; expect == 4.4e-33; MEOW:gnl|TIGR|8358.m00165 (26%) } # EOR GENR { RETE|ID 1 HUgn0001580 CHR 1 1 DID 1 LocusLink:1580 MAP 1 1p34-p12 NAM 1 cytochrome P450, family 4, subfamily B, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP4B1 ID|HUgn0001580 DID|LocusLink:1580 ORG|Homo sapiens RSQ|REFSEQ:NM_000779 RPA|REFPROT:NP_000770 DBA|XM:NM_000779 |NA:AF491285 |NA:AY064484 |NA:AY064485 |NA:AY064486 |NA:AY151048 |NA:AY151049 |NA:BC017758 |NA:J02871 |NA:X16699 |NA:none PAC|XP:NP_000770 SYM|CYP4B1 NAM|cytochrome P450, family 4, subfamily B, polypeptide 1 SYN|P-450HP FNC|cytochrome P450, family 4, subfamily B, polypeptide 1 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum. In rodents, the homologous protein has been |shown to metabolize certain carcinogens; however, the specific function of the human |protein has not been determined. CHR|1 PRD|microsomal monooxygenase |cytochrome P450, subfamily IVB, polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436317 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1580[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125372 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000779 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000779 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436317 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27119 DBL|UNIGENE:Hs.436317 |OMIM:124075 |SNP:1580 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |unspecific monooxygenase activity ; GO:0050381 MAP|1p34-p12 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 926; expect == 0.0; MEOW:ref|NP_058695.2| (85%) |species == Mouse; gene == Cyp4b1; score == 897; expect == 0.0; MEOW:MGgn0001845 (85%) |species == Human; gene == CYP4A11; score == 523; expect == 9e-149; MEOW:HUgn0001579 (53%) |species == Human; gene == LOC284541; score == 473; expect == 1e-133; MEOW:HUgn0284541 (50%) |species == Human; gene == CYP4X1; score == 471; expect == 5e-133; MEOW:HUgn0260293 (47%) |species == Human; gene == CYP4Z1; score == 455; expect == 2e-128; MEOW:HUgn0199974 (46%) |species == Mosquito; gene == LOC10558; score == 285; expect == 1.8e-77; MEOW:AGgn0010558 (35%) |species == Mosquito; score == 278; expect == 3.8e-75; MEOW:AGgn0010494 (33%) |species == Mosquito; gene == LOC19301; score == 268; expect == 3.9e-72; MEOW:AGgn0019301 (33%) |species == Fruitfly; gene == Cyp4c3; score == 264; expect == 1.1e-70; MEOW:FBgn0015032 (33%) |species == Mosquito; gene == LOC10492; score == 257; expect == 5.3e-69; MEOW:AGgn0010492 (36%) |species == Fruitfly; gene == Cyp4d1; score == 255; expect == 3.6e-68; MEOW:FBgn0005670 (33%) |species == Fruitfly; gene == Cyp4s3; score == 253; expect == 1.0e-67; MEOW:FBgn0030615 (34%) |species == Mosquito; gene == LOC20095; score == 250; expect == 1.1e-66; MEOW:AGgn0020095 (34%) |species == Fruitfly; gene == Cyp4d2; score == 250; expect == 1.2e-66; MEOW:FBgn0011576 (37%) |species == Mosquito; gene == LOC22378; score == 245; expect == 3.5e-65; MEOW:AGgn0022378 (35%) |species == Worm; gene == F01D5.9; score == 243; expect == 1.5e-64; MEOW:CEgn0007653 (36%) |species == Worm; gene == Y17G9B.3; score == 243; expect == 1.3e-64; MEOW:CEgn0018060 (32%) |species == Mosquito; score == 241; expect == 1.0e-63; MEOW:AGgn0028638 (28%) |species == Worm; gene == F28G4.1; score == 240; expect == 1.1e-63; MEOW:CEgn0009580 (32%) |species == Mosquito; gene == LOC23901; score == 237; expect == 5.7e-63; MEOW:AGgn0023901 (34%) |species == Mosquito; gene == LOC14254; score == 235; expect == 5.4e-62; MEOW:AGgn0014254 (32%) |species == Worm; gene == Y80D3A.5; score == 235; expect == 2.7e-62; MEOW:CEgn0020011 (32%) |species == Mosquito; gene == LOC16970; score == 233; expect == 2.8e-61; MEOW:AGgn0016970 (28%) |species == Fruitfly; gene == Cyp4d8; score == 233; expect == 1.5e-61; MEOW:FBgn0015033 (35%) |species == Worm; gene == Y5H2B.5; score == 232; expect == 4.3e-61; MEOW:CEgn0025422 (32%) |species == Fruitfly; gene == Cyp4e1; score == 231; expect == 5.5e-61; MEOW:FBgn0015034 (29%) |species == Mosquito; gene == LOC19380; score == 230; expect == 6.9e-61; MEOW:AGgn0019380 (34%) |species == Worm; gene == Y38C9B.1; score == 230; expect == 8.5e-61; MEOW:CEgn0018277 (31%) |species == Mosquito; gene == LOC8167; score == 228; expect == 2.6e-60; MEOW:AGgn0008167 (34%) |species == Mosquito; score == 228; expect == 8.0e-60; MEOW:AGgn0020821 (35%) |species == Mosquito; gene == LOC24957; score == 228; expect == 4.3e-60; MEOW:AGgn0024957 (35%) |species == Fruitfly; gene == Cyp4d14; score == 227; expect == 6.1e-60; MEOW:FBgn0023541 (35%) |species == Fruitfly; gene == Cyp4e2; score == 223; expect == 8.9e-59; MEOW:FBgn0014469 (30%) |species == Fruitfly; gene == Cyp4d20; score == 223; expect == 1.5e-58; MEOW:FBgn0035344 (32%) |species == Worm; gene == C26F1.2; score == 222; expect == 2.3e-58; MEOW:CEgn0005442 (30%) |species == Worm; gene == B0331.1; score == 217; expect == 7.5e-57; MEOW:CEgn0003383 (31%) |species == Weed; gene == At3g14680; score == 167; expect == 9.9e-42; MEOW:ATgn0012603 (29%) |species == Weed; gene == At2g26710; score == 163; expect == 1.9e-40; MEOW:ATgn0009801 (27%) |species == rice; score == 162; expect == 1.2e-39; MEOW:gnl|TIGR|8351.m05562 (29%) |species == rice; score == 160; expect == 1.6e-39; MEOW:gnl|TIGR|8355.m04212 (28%) |species == rice; score == 159; expect == 5.9e-39; MEOW:gnl|TIGR|8355.m04209 (28%) |species == Weed; gene == At1g67110; score == 157; expect == 1.7e-38; MEOW:ATgn0005595 (29%) |species == rice; score == 156; expect == 6.6e-38; MEOW:gnl|TIGR|8355.m04214 (28%) |species == Weed; gene == At5g52400; score == 155; expect == 5.1e-38; MEOW:ATgn0025154 (27%) |species == rice; score == 153; expect == 2.3e-37; MEOW:gnl|TIGR|8353.m02668 (26%) |species == Weed; gene == At5g24900; score == 152; expect == 3.3e-37; MEOW:ATgn0023445 (29%) |species == rice; score == 152; expect == 9.5e-37; MEOW:gnl|TIGR|8351.m00683 (27%) |species == rice; score == 151; expect == 2.1e-36; MEOW:gnl|TIGR|8350.m02288 (28%) |species == Weed; gene == At1g31800; score == 150; expect == 2.1e-36; MEOW:ATgn0001327 (26%) |species == Weed; gene == At4g15110; score == 148; expect == 8.1e-36; MEOW:ATgn0019601 (26%) |species == rice; score == 148; expect == 1.8e-35; MEOW:gnl|TIGR|8354.m03693 (28%) |species == Weed; gene == At3g14690; score == 147; expect == 1.8e-35; MEOW:ATgn0012605 (27%) |species == rice; score == 147; expect == 4.0e-35; MEOW:gnl|TIGR|8350.m04045 (27%) |species == Weed; gene == At3g14620; score == 146; expect == 4.0e-35; MEOW:ATgn0012579 (25%) |species == Weed; gene == At3g14660; score == 142; expect == 3.4e-34; MEOW:ATgn0012599 (27%) |species == rice; score == 141; expect == 1.7e-33; MEOW:gnl|TIGR|8350.m03841 (25%) |species == rice; score == 136; expect == 2.5e-32; MEOW:gnl|TIGR|8350.m04901 (27%) |species == Weed; gene == At5g24910; score == 134; expect == 9.7e-32; MEOW:ATgn0023446 (30%) |species == rice; score == 134; expect == 2.4e-31; MEOW:gnl|TIGR|8350.m04031 (26%) } # EOR GENR { RETE|ID 1 HUgn0001581 CHR 1 8 DID 1 LocusLink:1581 MAP 1 8q11-q12 NAM 1 cytochrome P450, family 7, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP7A1 ID|HUgn0001581 DID|LocusLink:1581 ORG|Homo sapiens RSQ|REFSEQ:NM_000780 RPA|REFPROT:NP_000771 DBA|XM:NM_000780 |NA:L04634 |NA:L13460 |NA:M89647 |NA:M89803 |NA:M93133 |NA:X56088 |NA:none PAC|XP:NP_000771 SYM|CYP7A1 NAM|cytochrome P450, family 7, subfamily A, polypeptide 1 SYN|CP7A |CYP7 FNC|cytochrome P450, family 7, subfamily A, polypeptide 1 |electron transport ; GO:0006118 |bile acid biosynthesis ; GO:0006699 |cholesterol metabolism ; GO:0008203 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic |reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic |pathway in the liver, which converts cholesterol to bile acids. This reaction is |the rate limiting step and the major site of regulation of bile acid synthesis, |which is the primary mechanism for the removal of cholesterol from the body. CHR|8 PRD|cholesterol 7-alpha-hydroxylase |cholesterol 7 alpha-monooxygenase |cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1644 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1581[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132221 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000780 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000780 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1581 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 DBL|UNIGENE:Hs.1644 |OMIM:118455 |SNP:1581 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.13.17 |monooxygenase activity ; GO:0004497 |cholesterol 7-alpha-monooxygenase activity ; GO:0008123 MAP|8q11-q12 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == rat; score == 863; expect == 0.0; MEOW:ref|NP_037074.1| (82%) |species == Mouse; gene == Cyp7a1; score == 861; expect == 0.0; MEOW:MGgn0001847 (81%) |species == Human; gene == CYP7B1; score == 346; expect == 1.5e-95; MEOW:HUgn0009420 (40%) |species == Human; gene == CYP8B1; score == 298; expect == 6.2e-81; MEOW:HUgn0001582 (34%) } # EOR GENR { RETE|ID 1 HUgn0001582 CHR 1 3 DID 1 LocusLink:1582 MAP 1 3p22-p21.3 NAM 1 cytochrome P450, family 8, subfamily B, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP8B1 ID|HUgn0001582 DID|LocusLink:1582 ORG|Homo sapiens RSQ|REFSEQ:NM_004391 RPA|REFPROT:NP_004382 DBA|XM:NM_004391 |NA:AF090320 |NA:AF090318 |NA:none PAC|XP:NP_004382 SYM|CYP8B1 NAM|cytochrome P450, family 8, subfamily B, polypeptide 1 SYN|CP8B |CYP12 FNC|cytochrome P450, family 8, subfamily B, polypeptide 1 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic |reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one |into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two |steroids determines the relative amounts of cholic acid and chenodeoxycholic acid |both of which are secreted in the bile and affect the solubility of cholesterol. |This gene is unique among the cytochrome P450 genes in that it is intronless. CHR|3 PRD|sterol 12-alpha-hydroxylase |7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase |cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447793 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1582[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848666 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004391 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004391 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 DBL|UNIGENE:Hs.447793 |OMIM:602172 |SNP:1582 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.-.- |sterol 12-alpha-hydroxylase activity ; GO:0008397 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 MAP|3p22-p21.3 CEL|microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cyp8b1; score == 765; expect == 0.0; MEOW:MGgn0001849 (75%) |species == rat; score == 752; expect == 0.0; MEOW:ref|NP_112520.1| (74%) |species == Human; gene == PTGIS; score == 370; expect == 1e-102; MEOW:HUgn0005740 (41%) |species == Human; gene == CYP7A1; score == 298; expect == 6.2e-81; MEOW:HUgn0001581 (34%) } # EOR GENR { RETE|ID 1 HUgn0001583 CHR 1 15 DID 1 LocusLink:1583 MAP 1 15q23-q24 NAM 1 cytochrome P450, family 11, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP11A1 ID|HUgn0001583 DID|LocusLink:1583 ORG|Homo sapiens RSQ|REFSEQ:NM_000781 RPA|REFPROT:NP_000772 DBA|XM:NM_000781 |NA:X05367 |NA:X14257 |NA:AK056794 |NA:BC032329 |NA:M14565 |NA:M28253 |NA:none PAC|XP:NP_000772 SYM|CYP11A1 NAM|cytochrome P450, family 11, subfamily A, polypeptide 1 SYN|CYP11A |P450SCC FNC|cytochrome P450, subfamily XIA precursor |androgen biosynthesis ; GO:0006702 |electron transport ; GO:0006118 |C21-steroid hormone biosynthesis ; GO:0006700 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol |to pregnenolone, the first and rate-limiting step in the synthesis of the steroid |hormones. CHR|15 PRD|steroid 20-22-lyase |cytochrome P450C11A1 |cholesterol 20-22 desmolase |cholesterol monooxygenase (side-chain cleaving) |cytochrome P450, subfamily XIA (cholesterol side chain cleavage) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76205 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1583[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119828 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000781 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000781 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76205 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 DBL|UNIGENE:Hs.76205 |OMIM:118485 |SNP:1583 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.15.6 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 |cholesterol monooxygenase (side-chain-cleaving) activity ; GO:0008386 MAP|15q23-q24 CEL|membrane ; GO:0016020 |mitochondrion ; GO:0005739 HG|species == rat; score == 818; expect == 0.0; MEOW:ref|NP_058982.1| (76%) |species == Mouse; gene == Cyp11a1; score == 806; expect == 0.0; MEOW:MGgn0001794 (75%) |species == Zfish; gene == cyp11a1; score == 474; expect == 3e-135; MEOW:ZFgn0002158 (48%) |species == Human; gene == CYP11B2; score == 345; expect == 2.7e-95; MEOW:HUgn0001585 (38%) |species == Human; gene == CYP11B1; score == 331; expect == 5.3e-91; MEOW:HUgn0001584 (38%) |species == Mosquito; gene == LOC22731; score == 168; expect == 3.3e-42; MEOW:AGgn0022731 (27%) |species == Fruitfly; gene == Cyp12c1; score == 166; expect == 1.7e-41; MEOW:FBgn0036806 (27%) |species == Worm; gene == ccp-44; score == 164; expect == 5.9e-41; MEOW:CEgn0021594 (28%) |species == Fruitfly; gene == Cyp12b2; score == 155; expect == 3.0e-38; MEOW:FBgn0034387 (27%) |species == Mosquito; score == 152; expect == 3.2e-37; MEOW:AGgn0018572 (25%) |species == Fruitfly; gene == dib; score == 148; expect == 3.7e-36; MEOW:FBgn0000449 (26%) |species == Mosquito; gene == LOC10747; score == 147; expect == 6.0e-36; MEOW:AGgn0010747 (26%) |species == Mosquito; score == 146; expect == 1.3e-35; MEOW:AGgn0025792 (25%) |species == Fruitfly; gene == CG18240; score == 142; expect == 2.7e-34; MEOW:FBgn0033576 (24%) |species == Fruitfly; gene == Cyp12a4; score == 141; expect == 1.4e-33; MEOW:FBgn0038681 (27%) |species == Fruitfly; gene == sad; score == 140; expect == 1.3e-33; MEOW:FBgn0003312 (23%) |species == Fruitfly; gene == Cyp12a5; score == 140; expect == 1.0e-33; MEOW:FBgn0038680 (26%) |species == Fruitfly; gene == Cyp12d1; score == 140; expect == 1.3e-33; MEOW:FBgn0041339 (24%) |species == Mosquito; gene == LOC12378; score == 139; expect == 1.6e-33; MEOW:AGgn0012378 (23%) } # EOR GENR { RETE|ID 1 HUgn0001584 CHR 1 8 DID 1 LocusLink:1584 MAP 1 8q21 NAM 1 cytochrome P450, family 11, subfamily B, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP11B1 ID|HUgn0001584 DID|LocusLink:1584 ORG|Homo sapiens RSQ|REFSEQ:NM_000497 RPA|REFPROT:NP_000488 DBA|XM:NM_000497 |NA:D10169 |NA:D16153 |NA:D16155 |NA:M32863 |NA:M32879 |NA:AF478474 |NA:M24667 |NA:X55764 |NA:none PAC|XP:NP_000488 SYM|CYP11B1 NAM|cytochrome P450, family 11, subfamily B, polypeptide 1 SYN|FHI |CPN1 |CYP11B |P450C11 FNC|cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1 precursor REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the mitochondrial inner membrane and is involved in the conversion |of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause |congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. CHR|8 PRD|cytochrome p450 XIB1 |steroid 11-beta-monooxygenase |cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184927 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1584[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120603 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000497 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000497 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 DBL|UNIGENE:Hs.184927 |OMIM:202010 |SNP:1584 |UWCM:120603.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.15.4 MAP|8q21 PHP|Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |Aldosteronism, glucocorticoid-remediable HG|species == Human; gene == CYP11B2; score == 919; expect == 0.0; MEOW:HUgn0001585 (93%) |species == rat; score == 679; expect == 0.0; MEOW:ref|NP_036670.1| (68%) |species == Mouse; gene == Cyp11b2; score == 674; expect == 0.0; MEOW:MGgn0001796 (67%) |species == rat; score == 639; expect == 0.0; MEOW:ref|XP_343263.1| (64%) |species == rat; score == 620; expect == 4e-178; MEOW:ref|NP_861545.1| (62%) |species == Zfish; gene == cyp11a1; score == 350; expect == 1.4e-96; MEOW:ZFgn0002158 (38%) |species == Mosquito; gene == LOC22731; score == 158; expect == 8.0e-39; MEOW:AGgn0022731 (28%) |species == Fruitfly; gene == Cyp12c1; score == 158; expect == 6.2e-39; MEOW:FBgn0036806 (29%) |species == Worm; gene == ccp-44; score == 147; expect == 9.3e-36; MEOW:CEgn0021594 (27%) |species == Mosquito; score == 144; expect == 1.5e-34; MEOW:AGgn0025792 (26%) |species == Fruitfly; gene == Cyp12b2; score == 141; expect == 1.4e-33; MEOW:FBgn0034387 (26%) |species == Fruitfly; gene == sad; score == 139; expect == 2.8e-33; MEOW:FBgn0003312 (25%) |species == Fruitfly; gene == Cyp49a1; score == 138; expect == 9.9e-33; MEOW:FBgn0033524 (25%) |species == Mosquito; score == 137; expect == 1.4e-32; MEOW:AGgn0018572 (24%) |species == Mosquito; score == 136; expect == 4.6e-32; MEOW:AGgn0029443 (24%) |species == Mosquito; score == 135; expect == 3.9e-32; MEOW:AGgn0002973 (26%) |species == Mosquito; gene == LOC11790; score == 134; expect == 9.5e-32; MEOW:AGgn0011790 (26%) |species == Fruitfly; gene == Cyp12a4; score == 132; expect == 4.9e-31; MEOW:FBgn0038681 (26%) } # EOR GENR { RETE|ID 1 HUgn0001585 CHR 1 8 DID 1 LocusLink:1585 MAP 1 8q21-q22 NAM 1 cytochrome P450, family 11, subfamily B, polypeptide 2 ORG 1 Homo sapiens SYM 1 CYP11B2 ID|HUgn0001585 DID|LocusLink:1585 ORG|Homo sapiens RSQ|REFSEQ:NM_000498 RPA|REFPROT:NP_000489 DBA|XM:NM_000498 |NA:D10170 |NA:D13752 |NA:M32881 |NA:S77397 |NA:X54741 |NA:none PAC|XP:NP_000489 SYM|CYP11B2 NAM|cytochrome P450, family 11, subfamily B, polypeptide 2 SYN|CPN2 |ALDOS |CYP11B |CYP11BL |P-450C18 |P450aldo FNC|cytochrome P450, subfamily XIB polypeptide 2 precursor |glucocorticoid biosynthesis ; GO:0006704 |regulation of blood pressure ; GO:0008217 |electron transport ; GO:0006118 |C21-steroid hormone biosynthesis ; GO:0006700 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase |activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase |activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. CHR|8 PRD|aldosterone synthase |steroid 11-beta-monooxygenase |Steroid 11-beta/18-hydroxylase |steroid 11-beta/18-hydroxylase |cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511880 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1585[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120514 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000498 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000498 |http://www.geneclinics.org/query?mim=124080 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00150 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA134 DBL|UNIGENE:Hs.511880 |OMIM:124080 |SNP:1585 |UWCM:120514.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.15.4 |steroid 11-beta-monooxygenase activity ; GO:0004507 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |corticosterone 18-monooxygenase activity ; GO:0047783 MAP|8q21-q22 PHP|Aldosterone to renin ratio raised |Hypoaldosteronism, congenital, due to CMO I deficiency |Hypoaldosteronism, congenital, due to CMO II deficiency |Low renin hypertension, susceptibility to CEL|membrane ; GO:0016020 |mitochondrion ; GO:0005739 HG|species == Human; gene == CYP11B1; score == 919; expect == 0.0; MEOW:HUgn0001584 (93%) |species == rat; score == 669; expect == 0.0; MEOW:ref|NP_036670.1| (69%) |species == Mouse; gene == Cyp11b2; score == 667; expect == 0.0; MEOW:MGgn0001796 (68%) |species == rat; score == 637; expect == 0.0; MEOW:ref|XP_343263.1| (63%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|NP_861545.1| (62%) |species == Zfish; gene == cyp11a1; score == 360; expect == 8e-100; MEOW:ZFgn0002158 (40%) |species == Human; gene == CYP11A1; score == 345; expect == 2.7e-95; MEOW:HUgn0001583 (38%) |species == Fruitfly; gene == Cyp12c1; score == 161; expect == 7.3e-40; MEOW:FBgn0036806 (31%) |species == Mosquito; gene == LOC22731; score == 154; expect == 1.5e-37; MEOW:AGgn0022731 (28%) |species == Mosquito; score == 147; expect == 1.8e-35; MEOW:AGgn0025792 (26%) |species == Mosquito; gene == LOC11790; score == 146; expect == 4.1e-35; MEOW:AGgn0011790 (27%) |species == Fruitfly; gene == Cyp12b2; score == 143; expect == 2.9e-34; MEOW:FBgn0034387 (26%) |species == Worm; gene == ccp-44; score == 142; expect == 4.2e-34; MEOW:CEgn0021594 (27%) |species == Mosquito; score == 140; expect == 2.5e-33; MEOW:AGgn0029443 (25%) |species == Fruitfly; gene == Cyp12a4; score == 139; expect == 5.2e-33; MEOW:FBgn0038681 (28%) |species == Mosquito; score == 138; expect == 6.0e-33; MEOW:AGgn0002973 (26%) |species == Mosquito; score == 136; expect == 3.1e-32; MEOW:AGgn0018572 (25%) |species == Fruitfly; gene == Cyp49a1; score == 135; expect == 8.4e-32; MEOW:FBgn0033524 (24%) |species == Mosquito; gene == LOC12378; score == 132; expect == 3.5e-31; MEOW:AGgn0012378 (24%) } # EOR GENR { RETE|ID 1 HUgn0001586 CHR 1 10 DID 1 LocusLink:1586 MAP 1 10q24.3 NAM 1 cytochrome P450, family 17, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP17A1 ID|HUgn0001586 DID|LocusLink:1586 ORG|Homo sapiens RSQ|REFSEQ:NM_000102 RPA|REFPROT:NP_000093 DBA|XM:NM_000102 |NA:M19489 |NA:M31153 |NA:M63871 |NA:M14564 |NA:none PAC|XP:NP_000093 SYM|CYP17A1 NAM|cytochrome P450, family 17, subfamily A, polypeptide 1 SYN|CPT7 |CYP17 |S17AH |P450C17 FNC|cytochrome P450, family 17 |electron transport ; GO:0006118 |sex differentiation ; GO:0007548 |C21-steroid hormone biosynthesis ; GO:0006700 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase |activities and is a key enzyme in the steroidogenic pathway that produces progestins, |mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this |gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase |deficiency, pseudohermaphroditism, and adrenal hyperplasia. CHR|10 PRD|cytochrome p450 XVIIA1 |steroid 17-alpha-monooxygenase |steroid 17-alpha-hydroxylase/17,20 lyase |cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438016 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1586[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119829 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000102 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000102 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 DBL|UNIGENE:Hs.438016 |OMIM:202110 |SNP:1586 |UWCM:rch/119829. |DRNELSON:CytochromeP450.html ENZ|EC:1.14.99.9 |steroid 17-alpha-monooxygenase activity ; GO:0004508 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 MAP|10q24.3 PHP|Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == chimp; score == 965; expect == 0.0; MEOW:sp|Q8HYN1|Q8HYN1 (99%) |species == Mouse; gene == Cyp17a1; score == 710; expect == 0.0; MEOW:MGgn0001798 (66%) |species == rat; score == 686; expect == 0.0; MEOW:ref|NP_036885.1| (68%) |species == Human; gene == CYP1A1; score == 249; expect == 3.4e-66; MEOW:HUgn0001543 (33%) |species == Human; gene == CYP21A2; score == 239; expect == 2.6e-63; MEOW:HUgn0001589 (32%) |species == Zfish; gene == cyp1a1; score == 228; expect == 3.1e-61; MEOW:ZFgn0002393 (31%) |species == Human; gene == CYP1A2; score == 225; expect == 5.2e-59; MEOW:HUgn0001544 (30%) |species == Fruitfly; gene == Cyp18a1; score == 207; expect == 8.5e-54; MEOW:FBgn0010383 (29%) |species == Human; gene == CYP1B1; score == 203; expect == 2.1e-52; MEOW:HUgn0001545 (27%) |species == Zfish; gene == cyp2ja; score == 194; expect == 5.0e-51; MEOW:ZFgn0002623 (30%) |species == rice; score == 188; expect == 1.5e-47; MEOW:gnl|TIGR|8360.m04926 (29%) |species == rice; score == 187; expect == 2.6e-47; MEOW:gnl|TIGR|8360.m04925 (28%) |species == Weed; gene == At4g12300; score == 184; expect == 1.3e-46; MEOW:ATgn0020380 (26%) |species == rice; score == 183; expect == 2.9e-46; MEOW:gnl|TIGR|8356.m03850 (29%) |species == rice; score == 178; expect == 1.6e-44; MEOW:gnl|TIGR|8350.m04669 (28%) |species == Weed; gene == At3g61040; score == 176; expect == 2.1e-44; MEOW:ATgn0014005 (30%) |species == Weed; gene == At4g12310; score == 176; expect == 3.7e-44; MEOW:ATgn0020384 (27%) |species == Weed; gene == At2g45560; score == 174; expect == 1.4e-43; MEOW:ATgn0010008 (29%) |species == Worm; gene == R08F11.3; score == 174; expect == 5.5e-44; MEOW:CEgn0014649 (28%) |species == Worm; gene == Y49C4A.9; score == 174; expect == 9.4e-44; MEOW:CEgn0025547 (28%) |species == rice; score == 174; expect == 1.0e-43; MEOW:gnl|TIGR|8356.m03844 (27%) |species == rice; score == 172; expect == 4.0e-43; MEOW:gnl|TIGR|8353.m03686 (29%) |species == Weed; gene == At2g45570; score == 171; expect == 1.2e-42; MEOW:ATgn0010010 (28%) |species == Weed; gene == FAH1; score == 171; expect == 1.2e-42; MEOW:ATgn0017296 (27%) |species == Weed; gene == At4g22710; score == 171; expect == 1.2e-42; MEOW:ATgn0020732 (27%) |species == Weed; gene == At3g52970; score == 170; expect == 1.5e-42; MEOW:ATgn0012421 (27%) |species == Weed; gene == At4g22690; score == 169; expect == 3.8e-42; MEOW:ATgn0020728 (26%) |species == Worm; gene == K05D4.4; score == 169; expect == 1.8e-42; MEOW:CEgn0013272 (27%) |species == rice; score == 169; expect == 2.6e-42; MEOW:gnl|TIGR|8360.m04928 (25%) |species == Worm; gene == C45H4.17; score == 167; expect == 8.8e-42; MEOW:CEgn0006559 (26%) |species == rice; score == 167; expect == 3.7e-41; MEOW:gnl|TIGR|8351.m01610 (29%) |species == rice; score == 165; expect == 1.1e-40; MEOW:gnl|TIGR|8357.m02375 (26%) |species == rice; score == 165; expect == 1.4e-40; MEOW:gnl|TIGR|8360.m01281 (29%) |species == Weed; gene == CA4H; score == 164; expect == 8.3e-41; MEOW:ATgn0007898 (26%) |species == Weed; gene == At5g44620; score == 164; expect == 8.3e-41; MEOW:ATgn0023937 (26%) |species == Worm; gene == C45H4.2; score == 164; expect == 9.7e-41; MEOW:CEgn0006545 (26%) |species == Worm; gene == F41B5.2; score == 164; expect == 9.7e-41; MEOW:CEgn0010541 (29%) |species == rice; score == 164; expect == 3.1e-40; MEOW:gnl|TIGR|8351.m03374 (25%) |species == Weed; gene == At2g45550; score == 162; expect == 5.4e-40; MEOW:ATgn0010006 (27%) |species == rice; score == 162; expect == 5.5e-40; MEOW:gnl|TIGR|8356.m04234 (25%) |species == Worm; gene == F42A9.5; score == 161; expect == 6.3e-40; MEOW:CEgn0010646 (26%) |species == Weed; gene == At1g33720; score == 159; expect == 3.5e-39; MEOW:ATgn0003152 (27%) |species == Worm; gene == C49C8.4; score == 159; expect == 1.8e-39; MEOW:CEgn0006771 (25%) |species == Worm; gene == F41B5.4; score == 159; expect == 3.1e-39; MEOW:CEgn0010543 (27%) |species == Worm; gene == K09A11.2; score == 159; expect == 1.8e-39; MEOW:CEgn0013604 (26%) |species == rice; score == 159; expect == 4.5e-39; MEOW:gnl|TIGR|8360.m01283 (26%) |species == rice; score == 159; expect == 2.8e-39; MEOW:gnl|TIGR|8360.m04927 (27%) |species == Weed; gene == At2g42250; score == 158; expect == 7.9e-39; MEOW:ATgn0008103 (28%) |species == Weed; gene == At4g37430; score == 157; expect == 1.3e-38; MEOW:ATgn0018545 (26%) |species == Weed; gene == At4g12330; score == 157; expect == 1.8e-38; MEOW:ATgn0020390 (24%) |species == rice; score == 157; expect == 5.9e-38; MEOW:gnl|TIGR|8357.m02326 (27%) |species == Weed; gene == At4g37400; score == 156; expect == 2.9e-38; MEOW:ATgn0018528 (26%) |species == Weed; gene == At5g57220; score == 156; expect == 2.8e-38; MEOW:ATgn0023375 (25%) |species == rice; score == 156; expect == 2.3e-38; MEOW:gnl|TIGR|8357.m02325 (27%) |species == Mosquito; score == 154; expect == 6.2e-38; MEOW:AGgn0003135 (27%) |species == Weed; gene == At4g37370; score == 154; expect == 1.4e-37; MEOW:ATgn0018497 (25%) |species == Weed; gene == At5g10600; score == 154; expect == 1.1e-37; MEOW:ATgn0023590 (26%) |species == Weed; gene == At5g06900; score == 153; expect == 1.9e-37; MEOW:ATgn0026428 (26%) |species == Mosquito; gene == LOC1701; score == 152; expect == 2.4e-37; MEOW:AGgn0001701 (27%) |species == Weed; gene == At2g23220; score == 152; expect == 3.3e-37; MEOW:ATgn0007414 (27%) |species == Weed; gene == At5g57260; score == 151; expect == 4.1e-36; MEOW:ATgn0023391 (25%) |species == Weed; gene == At2g24180; score == 150; expect == 1.6e-36; MEOW:ATgn0008071 (25%) |species == Weed; gene == At3g26300; score == 150; expect == 2.1e-36; MEOW:ATgn0012070 (24%) |species == Weed; gene == At1g28430; score == 149; expect == 4.9e-36; MEOW:ATgn0003479 (26%) |species == Weed; gene == At4g37360; score == 148; expect == 7.8e-36; MEOW:ATgn0018492 (25%) |species == Weed; gene == At4g37410; score == 148; expect == 6.0e-36; MEOW:ATgn0029396 (26%) |species == Mosquito; gene == LOC18707; score == 145; expect == 3.8e-35; MEOW:AGgn0018707 (26%) |species == Mosquito; score == 144; expect == 1.3e-34; MEOW:AGgn0005415 (28%) |species == Mosquito; score == 141; expect == 4.2e-34; MEOW:AGgn0025243 (26%) |species == Mosquito; score == 138; expect == 3.5e-33; MEOW:AGgn0000677 (26%) } # EOR GENR { RETE|ID 1 HUgn0001587 CHR 1 8 DID 1 LocusLink:1587 MAP 1 8p21-p12 NAM 1 a disintegrin and metalloproteinase domain 3a (cyritestin 1) ORG 1 Homo sapiens SYM 1 ADAM3A ID|HUgn0001587 DID|LocusLink:1587 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AJ005372 |NA:BC025386 |NA:BC042979 |NA:X89654 |NA:X89655 |NA:X89656 |NA:X89657 SYM|ADAM3A NAM|a disintegrin and metalloproteinase domain 3a (cyritestin 1) SYN|ADAM3 |CYRN1 |TMDCI |tMDCI CHR|8 DBL|OMIM:602889 |SNP:1587 MAP|8p21-p12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6045442 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=X89657 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=X89657 } # EOR GENR { RETE|ID 1 HUgn0001588 CHR 1 15 DID 1 LocusLink:1588 MAP 1 15q21.1 NAM 1 cytochrome P450, family 19, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP19A1 ID|HUgn0001588 DID|LocusLink:1588 ORG|Homo sapiens RSQ|REFSEQ:NM_000103 |REFSEQ:NM_031226 RPA|REFPROT:NP_000094 |REFPROT:NP_112503 DBA|XM:NM_000103 |XM:NM_031226 |NA:D14473 |NA:M30804 |NA:S85356 |NA:BC020767 |NA:BC022896 |NA:BC035714 |NA:BC035959 |NA:J04127 |NA:M18856 |NA:M22246 |NA:M28420 |NA:X13589 |NA:Y07508 |NA:none PAC|XP:NP_000094 |XP:NP_112503 SYM|CYP19A1 NAM|cytochrome P450, family 19, subfamily A, polypeptide 1 SYN|ARO |ARO1 |CPV1 |CYAR |CYP19 |P-450AROM FNC|cytochrome P450, family 19 |electron transport ; GO:0006118 |steroid biosynthesis ; GO:0006694 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen |biosynthesis, three successive hydroxylations of the A ring of androgens. Mutations |in this gene can result in either increased or decreased aromatase activity; the |associated phenotypes suggest that estrogen functions both as a sex steroid hormone |and in growth or differentiation. The gene expresses two transcript variants. CHR|15 PRD|aromatase |estrogen synthetase |microsomal monooxygenase |flavoprotein-linked monooxygenase |cytochrome P450, subfamily XIX (aromatization of androgens) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=187471 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1588[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119830 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031226 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031226 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=187471 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.187471 |OMIM:107910 |SNP:1588 |UWCM:119830.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |aromatase activity ; GO:0008402 |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 |unspecific monooxygenase activity ; GO:0050381 MAP|15q21.1 PHP|Aromatase deficiency |Gynecomastia, familial, due to increased aromatase activity |Virilization, maternal and fetal, from placental aromatase deficiency CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Cyp19a1; score == 825; expect == 0.0; MEOW:MGgn0001799 (79%) |species == rat; score == 795; expect == 0.0; MEOW:ref|NP_058781.1| (77%) |species == Zfish; gene == cyp19b; score == 540; expect == 4e-155; MEOW:ZFgn0001952 (56%) |species == Zfish; gene == cyp19a; score == 526; expect == 7e-151; MEOW:ZFgn0000252 (53%) } # EOR GENR { RETE|ID 1 HUgn0001589 CHR 1 6 DID 1 LocusLink:1589 MAP 1 6p21.3 NAM 1 cytochrome P450, family 21, subfamily A, polypeptide 2 ORG 1 Homo sapiens SYM 1 CYP21A2 ID|HUgn0001589 DID|LocusLink:1589 ORG|Homo sapiens RSQ|REFSEQ:NM_000500 RPA|REFPROT:NP_000491 DBA|XM:NM_000500 |NA:AF019413 |NA:AF077974 |NA:M12792 |NA:M13936 |NA:M21550 |NA:M26856 |NA:M28548 |NA:X58898 |NA:X58899 |NA:X58900 |NA:X58902 |NA:X58904 |NA:X58906 |NA:X58907 |NA:AK054616 |NA:M17252 PAC|XP:NP_000491 SYM|CYP21A2 NAM|cytochrome P450, family 21, subfamily A, polypeptide 2 SYN|CAH1 |CPS1 |CA21H |CYP21 |CYP21B |P450c21B FNC|cytochrome P450, family 21, subfamily A, polypeptide 2 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This protein |localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. |Its activity is required for the synthesis of steroid hormones including cortisol |and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A |related pseudogene is located near this gene; gene conversion events involving the |functional gene and the pseudogene are thought account for many cases of steroid |21-hydroxylase deficiency. CHR|6 PRD|steroid 21-hydroxylase |steroid 21-monooxygenase |cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278430 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1589[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120605 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000500 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000500 |http://www.geneclinics.org/query?mim=201910 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00140 DBL|UNIGENE:Hs.278430 |OMIM:201910 |SNP:1589 |UWCM:120605.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.99.10 |steroid hydroxylase activity ; GO:0008395 |cytochrome P450 activity ; GO:0015034 MAP|6p21.3 PHP|Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency HG|species == rat; score == 669; expect == 0.0; MEOW:ref|NP_476442.1| (69%) |species == Mouse; gene == Cyp21a1; score == 644; expect == 0.0; MEOW:MGgn0001803 (70%) |species == chimp; score == 240; expect == 2.0e-63; MEOW:sp|Q8HYN1|Q8HYN1 (32%) |species == Human; gene == CYP17A1; score == 239; expect == 2.6e-63; MEOW:HUgn0001586 (32%) |species == Weed; gene == At4g12300; score == 176; expect == 2.8e-44; MEOW:ATgn0020380 (28%) |species == Fruitfly; gene == Cyp18a1; score == 172; expect == 2.9e-43; MEOW:FBgn0010383 (28%) |species == Zfish; gene == cyp1a1; score == 169; expect == 2.2e-43; MEOW:ZFgn0002393 (28%) |species == Weed; gene == At4g12310; score == 167; expect == 1.0e-41; MEOW:ATgn0020384 (28%) |species == rice; score == 157; expect == 4.5e-38; MEOW:gnl|TIGR|8357.m02326 (28%) |species == Weed; gene == At3g26180; score == 156; expect == 2.2e-38; MEOW:ATgn0012024 (26%) |species == Weed; gene == At1g13110; score == 152; expect == 5.5e-37; MEOW:ATgn0001115 (28%) |species == Weed; gene == At3g26170; score == 152; expect == 3.2e-37; MEOW:ATgn0012021 (26%) |species == Weed; gene == At2g23190; score == 151; expect == 7.9e-37; MEOW:ATgn0007406 (27%) |species == Weed; gene == At4g37370; score == 151; expect == 7.1e-37; MEOW:ATgn0018497 (26%) |species == Weed; gene == At4g12330; score == 151; expect == 1.3e-36; MEOW:ATgn0020390 (25%) |species == Weed; gene == At5g57220; score == 151; expect == 1.2e-36; MEOW:ATgn0023375 (25%) |species == Weed; gene == At4g37430; score == 148; expect == 6.0e-36; MEOW:ATgn0018545 (25%) |species == Weed; gene == At4g37360; score == 147; expect == 1.7e-35; MEOW:ATgn0018492 (27%) |species == rice; score == 147; expect == 1.4e-35; MEOW:gnl|TIGR|8357.m02325 (28%) |species == Weed; gene == At1g13100; score == 146; expect == 2.2e-35; MEOW:ATgn0001113 (27%) |species == Weed; gene == At3g26210; score == 146; expect == 2.3e-35; MEOW:ATgn0012041 (28%) |species == Weed; gene == At5g44620; score == 146; expect == 3.1e-35; MEOW:ATgn0023937 (26%) |species == Weed; gene == At4g37310; score == 145; expect == 5.3e-35; MEOW:ATgn0018479 (24%) |species == Weed; gene == At4g12320; score == 145; expect == 4.4e-35; MEOW:ATgn0020388 (27%) |species == Weed; gene == At5g36220; score == 144; expect == 1.1e-34; MEOW:ATgn0022278 (26%) |species == Weed; gene == At5g57260; score == 144; expect == 3.8e-34; MEOW:ATgn0023391 (25%) |species == Weed; gene == At3g26160; score == 143; expect == 1.9e-34; MEOW:ATgn0012017 (26%) |species == Weed; gene == At4g37340; score == 143; expect == 2.5e-34; MEOW:ATgn0018491 (27%) |species == Worm; gene == F42A9.5; score == 142; expect == 3.8e-34; MEOW:CEgn0010646 (27%) |species == rice; score == 142; expect == 4.4e-34; MEOW:gnl|TIGR|8353.m03686 (26%) |species == Weed; gene == At4g22710; score == 141; expect == 1.0e-33; MEOW:ATgn0020732 (25%) |species == Weed; gene == At5g25140; score == 141; expect == 7.3e-34; MEOW:ATgn0024130 (25%) |species == rice; score == 141; expect == 7.6e-34; MEOW:gnl|TIGR|8360.m04925 (26%) |species == rice; score == 141; expect == 1.3e-33; MEOW:gnl|TIGR|8362.m01215 (24%) |species == Worm; gene == C12D5.7; score == 140; expect == 1.1e-33; MEOW:CEgn0004634 (26%) |species == Worm; gene == F44C8.1; score == 140; expect == 1.5e-33; MEOW:CEgn0010812 (25%) |species == rice; score == 139; expect == 4.9e-33; MEOW:gnl|TIGR|8354.m03433 (26%) |species == Zfish; gene == cyp2ja; score == 138; expect == 4.2e-34; MEOW:ZFgn0002623 (27%) |species == Worm; gene == C45H4.2; score == 136; expect == 2.1e-32; MEOW:CEgn0006545 (25%) |species == Worm; gene == daf-9; score == 134; expect == 1.0e-31; MEOW:CEgn0000352 (29%) |species == rice; score == 134; expect == 1.2e-31; MEOW:gnl|TIGR|8354.m03429 (25%) |species == rice; score == 134; expect == 1.2e-31; MEOW:gnl|TIGR|8356.m03850 (27%) |species == Worm; gene == F41B5.3; score == 133; expect == 1.4e-31; MEOW:CEgn0010542 (24%) |species == Worm; gene == Y49C4A.9; score == 133; expect == 1.4e-31; MEOW:CEgn0025547 (25%) |species == rice; score == 133; expect == 2.1e-31; MEOW:gnl|TIGR|8356.m04234 (25%) |species == Mosquito; gene == LOC18707; score == 132; expect == 2.5e-31; MEOW:AGgn0018707 (27%) |species == rice; score == 132; expect == 3.4e-31; MEOW:gnl|TIGR|8351.m03382 (28%) |species == rice; score == 132; expect == 5.9e-31; MEOW:gnl|TIGR|8362.m00784 (25%) |species == Worm; gene == K09A11.4; score == 131; expect == 5.2e-31; MEOW:CEgn0013606 (27%) } # EOR GENR { RETE|ID 1 HUgn0001590 CHR 1 6 DID 1 LocusLink:1590 MAP 1 6p21.3 NAM 1 cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene ORG 1 Homo sapiens SYM 1 CYP21A1P ID|HUgn0001590 DID|LocusLink:1590 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M12793 |NA:M13935 |NA:M26857 SYM|CYP21A1P NAM|cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene SYN|CYP21A |CYP21P |P450c21A CHR|6 PRD|cytochrome P450, subfamily XXI (steroid 21-hydroxylase) pseudogene |cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene MAP|6p21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120606 DBL|DRNELSON:CytochromeP450.html } # EOR GENR { RETE|ID 1 HUgn0001591 CHR 1 20 DID 1 LocusLink:1591 MAP 1 20q13 NAM 1 cytochrome P450, family 24, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP24A1 ID|HUgn0001591 DID|LocusLink:1591 ORG|Homo sapiens RSQ|REFSEQ:NM_000782 RPA|REFPROT:NP_000773 DBA|XM:NM_000782 |NA:AL138805 |NA:U60669 |NA:L13286 |NA:S67623 |NA:none PAC|XP:NP_000773 SYM|CYP24A1 NAM|cytochrome P450, family 24, subfamily A, polypeptide 1 SYN|CP24 |CYP24 |P450-CC24 FNC|cytochrome P450, family 24 precursor |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial |protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically |active form of vitamin D3, by hydroxylation of the side chain. In regulating the |level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin |D endocrine system. CHR|20 PRD|24-ohase |vitamin D 24-hydroxylase |1,25-@dihydroxyvitamin D3 24-hydroxylase |cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89663 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1591[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134534 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000782 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000782 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 DBL|UNIGENE:Hs.89663 |OMIM:126065 |SNP:1591 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.-.- |monooxygenase activity ; GO:0004497 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 MAP|20q13 CEL|mitochondrion ; GO:0005739 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Cyp24a1; score == 867; expect == 0.0; MEOW:MGgn0001805 (82%) |species == rat; score == 858; expect == 0.0; MEOW:ref|XP_230882.2| (80%) |species == Human; gene == CYP27A1; score == 251; expect == 8.9e-67; MEOW:HUgn0001593 (32%) |species == Zfish; gene == cyp11a1; score == 243; expect == 1.4e-64; MEOW:ZFgn0002158 (30%) |species == Human; gene == CYP27B1; score == 240; expect == 1.6e-63; MEOW:HUgn0001594 (33%) |species == Human; gene == LOC339761; score == 231; expect == 9.5e-61; MEOW:HUgn0339761 (29%) |species == Human; gene == CYP11A1; score == 214; expect == 1.2e-55; MEOW:HUgn0001583 (30%) |species == Mosquito; gene == LOC22731; score == 206; expect == 1.1e-53; MEOW:AGgn0022731 (31%) |species == Human; gene == CYP11B1; score == 203; expect == 2.1e-52; MEOW:HUgn0001584 (29%) |species == Human; gene == CYP11B2; score == 201; expect == 1.1e-51; MEOW:HUgn0001585 (29%) |species == Mosquito; score == 196; expect == 1.1e-50; MEOW:AGgn0029443 (29%) |species == Fruitfly; gene == Cyp49a1; score == 196; expect == 2.0e-50; MEOW:FBgn0033524 (29%) |species == Mosquito; score == 190; expect == 1.0e-48; MEOW:AGgn0018572 (27%) |species == Mosquito; score == 189; expect == 2.3e-48; MEOW:AGgn0002973 (29%) |species == Fruitfly; gene == Cyp12b2; score == 184; expect == 4.6e-47; MEOW:FBgn0034387 (26%) |species == Fruitfly; gene == Cyp12c1; score == 181; expect == 5.1e-46; MEOW:FBgn0036806 (29%) |species == Mosquito; gene == LOC11790; score == 176; expect == 1.2e-44; MEOW:AGgn0011790 (28%) |species == Worm; gene == ccp-44; score == 171; expect == 6.2e-43; MEOW:CEgn0021594 (27%) |species == Mosquito; gene == LOC19741; score == 170; expect == 8.5e-43; MEOW:AGgn0019741 (28%) |species == Fruitfly; gene == Cyp12a4; score == 170; expect == 1.2e-42; MEOW:FBgn0038681 (28%) |species == Mosquito; gene == LOC12378; score == 168; expect == 3.2e-42; MEOW:AGgn0012378 (25%) |species == Mosquito; score == 167; expect == 1.7e-41; MEOW:AGgn0025792 (27%) |species == Fruitfly; gene == dib; score == 166; expect == 1.3e-41; MEOW:FBgn0000449 (28%) |species == Fruitfly; gene == CG18240; score == 166; expect == 1.3e-41; MEOW:FBgn0033576 (26%) |species == Fruitfly; gene == Cyp12d1; score == 163; expect == 1.4e-40; MEOW:FBgn0041339 (25%) } # EOR GENR { RETE|ID 1 HUgn0001592 CHR 1 10 DID 1 LocusLink:1592 MAP 1 10q23-q24 NAM 1 cytochrome P450, family 26, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP26A1 ID|HUgn0001592 DID|LocusLink:1592 ORG|Homo sapiens RSQ|REFSEQ:NM_000783 |REFSEQ:NM_057157 RPA|REFPROT:NP_000774 |REFPROT:NP_476498 DBA|XM:NM_000783 |XM:NM_057157 |NA:AF005418 |NA:AK027560 |NA:AK075374 |NA:none PAC|XP:NP_000774 |XP:NP_476498 SYM|CYP26A1 NAM|cytochrome P450, family 26, subfamily A, polypeptide 1 SYN|CP26 |CYP26 |P450RAI |P450RAI1 FNC|cytochrome P450, family 26, subfamily A, polypeptide 1 isoform 1 |cytochrome P450, family 26, subfamily A, polypeptide 1 isoform 2 |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic |reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with |both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the |cellular level of retinoic acid which is involved in regulation of gene expression |in both embryonic and adult tissues. Two alternatively spliced transcript variants |of this gene, which encode the distinct isoforms, have been reported. CHR|10 PRD|retinoic acid 4-hydroxylase |P450, retinoic acid-inactivating, 1 |retinoic acid-metabolizing cytochrome |cytochrome P450, subfamily XXVIA, polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150595 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1592[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5204190 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_057157 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_057157 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 DBL|UNIGENE:Hs.150595 |OMIM:602239 |SNP:1592 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.-.- |retinoic acid 4-hydroxylase activity ; GO:0008401 |cytochrome P450 activity ; GO:0015034 |electron transporter activity ; GO:0005489 MAP|10q23-q24 CEL|membrane ; GO:0016020 |microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Cyp26a1; score == 901; expect == 0.0; MEOW:MGgn0001806 (93%) |species == rat; score == 878; expect == 0.0; MEOW:ref|NP_569092.1| (91%) |species == Zfish; gene == cyp26a1; score == 656; expect == 0.0; MEOW:ZFgn0000304 (68%) |species == Human; gene == P450RAI-2; score == 391; expect == 7e-109; MEOW:HUgn0056603 (45%) |species == Human; gene == CYP26C1; score == 384; expect == 8e-107; MEOW:HUgn0340665 (45%) |species == Weed; gene == At5g36110; score == 206; expect == 1.9e-53; MEOW:ATgn0022247 (31%) |species == Weed; gene == At4g19230; score == 198; expect == 6.1e-51; MEOW:ATgn0019986 (29%) |species == Weed; gene == At2g42850; score == 193; expect == 2.8e-49; MEOW:ATgn0008271 (28%) |species == rice; score == 191; expect == 9.9e-49; MEOW:gnl|TIGR|8351.m04509 (29%) |species == Weed; gene == At5g45340; score == 189; expect == 3.7e-48; MEOW:ATgn0024650 (29%) |species == rice; score == 185; expect == 1.3e-46; MEOW:gnl|TIGR|8355.m02872 (29%) |species == rice; score == 180; expect == 4.1e-45; MEOW:gnl|TIGR|8355.m03131 (29%) |species == Weed; gene == At2g29090; score == 179; expect == 3.2e-45; MEOW:ATgn0007098 (28%) |species == rice; score == 178; expect == 1.2e-44; MEOW:gnl|TIGR|8355.m03145 (29%) |species == rice; score == 178; expect == 1.2e-44; MEOW:gnl|TIGR|8355.m03149 (29%) |species == Weed; gene == At3g19270; score == 176; expect == 3.5e-44; MEOW:ATgn0016589 (27%) |species == rice; score == 174; expect == 1.3e-43; MEOW:gnl|TIGR|8355.m03142 (27%) |species == rice; score == 170; expect == 1.6e-42; MEOW:gnl|TIGR|8355.m03148 (29%) |species == Weed; gene == At5g38970; score == 169; expect == 2.3e-42; MEOW:ATgn0025486 (28%) |species == rice; score == 169; expect == 4.1e-42; MEOW:gnl|TIGR|8355.m03135 (28%) |species == Weed; gene == At1g05160; score == 168; expect == 5.5e-42; MEOW:ATgn0006207 (27%) |species == rice; score == 162; expect == 8.8e-40; MEOW:gnl|TIGR|8360.m03629 (28%) |species == rice; score == 161; expect == 2.0e-39; MEOW:gnl|TIGR|8355.m03129 (27%) |species == rice; score == 156; expect == 2.8e-38; MEOW:gnl|TIGR|8355.m03143 (27%) } # EOR GENR { RETE|ID 1 HUgn0001593 CHR 1 2 DID 1 LocusLink:1593 MAP 1 2q33-qter NAM 1 cytochrome P450, family 27, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP27A1 ID|HUgn0001593 DID|LocusLink:1593 ORG|Homo sapiens RSQ|REFSEQ:NM_000784 RPA|REFPROT:NP_000775 DBA|XM:NM_000784 |NA:S62709 |NA:AY178622 |NA:BC017044 |NA:BC040430 |NA:BC051851 |NA:M62401 |NA:X59812 |NA:none PAC|XP:NP_000775 SYM|CYP27A1 NAM|cytochrome P450, family 27, subfamily A, polypeptide 1 SYN|CTX |CP27 |CYP27 FNC|cytochrome P450, family 27, subfamily A, polypeptide 1 precursor |electron transport ; GO:0006118 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial |protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. |Since the conversion of cholesterol to bile acids is the major route for removing |cholesterol from the body, this protein is important for overall cholesterol homeostasis. |Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive |lipid storage disease. CHR|2 PRD|sterol 27-hydroxylase |cytochrome P-450C27/25 |vitamin D(3) 25-hydroxylase |cholestanetriol 26-monooxygenase |5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase |5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase |cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82568 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1593[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128129 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000784 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000784 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82568 |http://www.geneclinics.org/query?mim=606530 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 DBL|UNIGENE:Hs.82568 |OMIM:606530 |SNP:1593 |UWCM:128129.html |DRNELSON:CytochromeP450.html ENZ|EC:1.14.13.15 |steroid hydroxylase activity ; GO:0008395 MAP|2q33-qter PHP|Cerebrotendinous xanthomatosis CEL|membrane ; GO:0016020 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cyp27a1; score == 755; expect == 0.0; MEOW:MGgn0001807 (71%) |species == rat; score == 557; expect == 5e-159; MEOW:ref|XP_217439.1| (69%) |species == Human; gene == CYP27B1; score == 345; expect == 4.7e-95; MEOW:HUgn0001594 (40%) |species == Human; gene == LOC339761; score == 325; expect == 5.0e-89; MEOW:HUgn0339761 (33%) |species == Zfish; gene == cyp11a1; score == 204; expect == 7.2e-53; MEOW:ZFgn0002158 (27%) |species == Mosquito; score == 181; expect == 1.1e-45; MEOW:AGgn0018572 (28%) |species == Fruitfly; gene == Cyp49a1; score == 177; expect == 1.9e-44; MEOW:FBgn0033524 (30%) |species == Mosquito; gene == LOC22731; score == 176; expect == 3.7e-44; MEOW:AGgn0022731 (29%) |species == Mosquito; gene == LOC11790; score == 168; expect == 5.9e-42; MEOW:AGgn0011790 (29%) |species == Fruitfly; gene == CG18240; score == 167; expect == 1.7e-41; MEOW:FBgn0033576 (24%) |species == Fruitfly; gene == Cyp12d1; score == 167; expect == 1.7e-41; MEOW:FBgn0041339 (24%) |species == Mosquito; score == 163; expect == 2.7e-40; MEOW:AGgn0029443 (28%) |species == Fruitfly; gene == Cyp12b2; score == 162; expect == 4.6e-40; MEOW:FBgn0034387 (27%) |species == Fruitfly; gene == Cyp12c1; score == 157; expect == 1.8e-38; MEOW:FBgn0036806 (25%) |species == Mosquito; gene == LOC19741; score == 156; expect == 2.9e-38; MEOW:AGgn0019741 (27%) |species == Fruitfly; gene == Cyp301a1; score == 156; expect == 4.3e-38; MEOW:FBgn0033753 (25%) |species == Fruitfly; gene == Cyp12a5; score == 155; expect == 7.0e-38; MEOW:FBgn0038680 (27%) |species == Fruitfly; gene == Cyp12a4; score == 155; expect == 7.0e-38; MEOW:FBgn0038681 (26%) |species == Mosquito; score == 154; expect == 1.4e-37; MEOW:AGgn0002973 (28%) |species == Fruitfly; gene == sad; score == 146; expect == 1.4e-35; MEOW:FBgn0003312 (26%) } # EOR GENR { RETE|ID 1 HUgn0001594 CHR 1 12 DID 1 LocusLink:1594 MAP 1 12q13.1-q13.3 NAM 1 cytochrome P450, family 27, subfamily B, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP27B1 ID|HUgn0001594 DID|LocusLink:1594 ORG|Homo sapiens RSQ|REFSEQ:NM_000785 RPA|REFPROT:NP_000776 DBA|XM:NM_000785 |NA:AB005990 |NA:AB006987 |NA:AF027152 |NA:AF072470 |NA:AF256213 |NA:AB005038 |NA:AB005989 |NA:AF020192 |NA:AF246895 |NA:BC001776 |NA:BC020267 |NA:none PAC|XP:NP_000776 SYM|CYP27B1 NAM|cytochrome P450, family 27, subfamily B, polypeptide 1 SYN|VDR |CP2B |CYP1 |PDDR |VDD1 |VDDR |VDDRI |CYP27B |P450c1 |VDDR I FNC|cytochrome P450, family 27, subfamily B, polypeptide 1 |vitamin biosynthesis ; GO:0009110 |electron transport ; GO:0006118 |calcium ion homeostasis ; GO:0006874 |lipid metabolism ; GO:0006629 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. The protein |encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates |25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin |D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates |calcium metabolism. Thus this enzyme regulates the level of biologically active |vitamin D and plays an important role in calcium homeostasis. Mutations in this |gene can result in vitamin D-dependent rickets type I. CHR|12 PRD|P450c1-alpha |P450VD1-alpha |VD3 1A hydroxylase |25-OHD-1 alpha-hydroxylase |25-hydroxyvitamin D-1-alpha-hydroxylase |cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=199270 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1594[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835730 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000785 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000785 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=199270 |http://www.geneclinics.org/query?mim=264700 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00940 DBL|UNIGENE:Hs.199270 |OMIM:264700 |SNP:1594 |UWCM:rch/9835730 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.-.- |calcidiol 1-monooxygenase activity ; GO:0004498 |cytochrome P450 activity ; GO:0015034 MAP|12q13.1-q13.3 PHP|Pseudovitamin D deficiency rickets 1 CEL|membrane ; GO:0016020 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Cyp27a1; score == 362; expect == 3e-100; MEOW:MGgn0001807 (42%) |species == Human; gene == LOC339761; score == 351; expect == 6.5e-97; MEOW:HUgn0339761 (37%) |species == Human; gene == CYP27A1; score == 345; expect == 4.7e-95; MEOW:HUgn0001593 (40%) |species == rat; score == 261; expect == 5.3e-70; MEOW:ref|XP_217439.1| (41%) |species == Zfish; gene == cyp11a1; score == 243; expect == 2.4e-64; MEOW:ZFgn0002158 (34%) |species == rat; score == 243; expect == 2.7e-64; MEOW:ref|XP_230882.2| (32%) |species == rat; score == 235; expect == 6.8e-62; MEOW:ref|NP_058982.1| (31%) |species == Fruitfly; gene == Cyp49a1; score == 191; expect == 1.3e-48; MEOW:FBgn0033524 (30%) |species == Mosquito; score == 179; expect == 3.2e-45; MEOW:AGgn0018572 (29%) |species == Mosquito; gene == LOC22731; score == 178; expect == 5.7e-45; MEOW:AGgn0022731 (28%) |species == Mosquito; score == 167; expect == 1.3e-41; MEOW:AGgn0025792 (27%) |species == Mosquito; gene == LOC19741; score == 161; expect == 9.1e-40; MEOW:AGgn0019741 (27%) |species == Mosquito; score == 160; expect == 1.8e-39; MEOW:AGgn0029443 (26%) |species == Fruitfly; gene == Cyp12c1; score == 158; expect == 8.1e-39; MEOW:FBgn0036806 (26%) |species == Mosquito; score == 157; expect == 1.6e-38; MEOW:AGgn0002973 (27%) |species == Fruitfly; gene == Cyp12b2; score == 157; expect == 1.1e-38; MEOW:FBgn0034387 (25%) |species == Fruitfly; gene == Cyp12e1; score == 156; expect == 4.1e-38; MEOW:FBgn0037817 (29%) |species == Mosquito; gene == LOC10747; score == 150; expect == 2.0e-36; MEOW:AGgn0010747 (29%) |species == Worm; gene == ccp-44; score == 133; expect == 2.6e-31; MEOW:CEgn0021594 (27%) } # EOR GENR { RETE|ID 1 HUgn0001595 CHR 1 7 DID 1 LocusLink:1595 MAP 1 7q21.2-q21.3 NAM 1 cytochrome P450, family 51, subfamily A, polypeptide 1 ORG 1 Homo sapiens SYM 1 CYP51A1 ID|HUgn0001595 DID|LocusLink:1595 ORG|Homo sapiens RSQ|REFSEQ:NM_000786 RPA|REFPROT:NP_000777 DBA|XM:NM_000786 |XM:NM_000786 |NA:AC000120 |NA:U51684 |NA:U51685 |NA:U51686 |NA:U51687 |NA:U51688 |NA:U51689 |NA:U51690 |NA:U51691 |NA:U51692 |NA:AK091323 |NA:BC032322 |NA:D55653 |NA:U23942 |NA:none PAC|XP:NP_000777 |XP:NP_000777 SYM|CYP51A1 NAM|cytochrome P450, family 51, subfamily A, polypeptide 1 SYN|LDM |CP51 |CYP51 |CYPL1 |P450L1 |P450-14DM FNC|cytochrome P450, family 51 |electron transport ; GO:0006118 |cholesterol biosynthesis ; GO:0006695 REAB|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome |P450 proteins are monooxygenases which catalyze many reactions involved in drug |metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic |reticulum protein participates in the synthesis of cholesterol by catalyzing the |removal of the 14alpha-methyl group from lanosterol. Homologous genes are found |in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this |is one of the oldest cytochrome P450 genes. CHR|7 PRD|sterol 14-alpha demethylase |lanosterol 14-alpha-demethylase |cytochrome P450, 51 (lanosterol 14-alpha-demethylase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=417077 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1595[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4073039 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000786 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000786 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=417077 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.417077 |OMIM:601637 |SNP:1595 |DRNELSON:CytochromeP450.html ENZ|EC:1.14.14.1 |monooxygenase activity ; GO:0004497 |sterol 14-demethylase activity ; GO:0008398 MAP|7q21.2-q21.3 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Cyp51; score == 889; expect == 0.0; MEOW:MGgn0001846 (91%) |species == rat; score == 881; expect == 0.0; MEOW:ref|NP_037073.1| (93%) |species == rat; score == 819; expect == 0.0; MEOW:ref|XP_234202.2| (86%) |species == Weed; gene == At1g11680; score == 328; expect == 5.4e-90; MEOW:ATgn0006939 (38%) |species == Yeast; gene == ERG11; score == 315; expect == 5.2e-86; MEOW:SGgn0001049 (36%) |species == Weed; gene == At2g17330; score == 295; expect == 3.7e-80; MEOW:ATgn0028321 (38%) |species == rice; score == 253; expect == 1.3e-67; MEOW:gnl|TIGR|8353.m03026 (33%) |species == rice; score == 249; expect == 3.3e-66; MEOW:gnl|TIGR|8355.m03595 (34%) |species == rice; score == 247; expect == 9.5e-66; MEOW:gnl|TIGR|8353.m00987 (35%) |species == rice; score == 247; expect == 7.4e-66; MEOW:gnl|TIGR|8358.m02452 (35%) |species == rice; score == 237; expect == 1.3e-62; MEOW:gnl|TIGR|8351.m02040 (32%) |species == rice; score == 228; expect == 7.7e-60; MEOW:gnl|TIGR|8355.m02583 (35%) |species == rice; score == 227; expect == 1.1e-59; MEOW:gnl|TIGR|8351.m00121 (35%) |species == rice; score == 226; expect == 3.8e-59; MEOW:gnl|TIGR|8353.m03020 (31%) } # EOR GENR { RETE|ID 1 HUgn0001596 CHR 1 16 DID 1 LocusLink:1596 MAP 1 16q12.1 NAM 1 a disintegrin and metalloproteinase domain 3b (cyritestin 2) ORG 1 Homo sapiens SYM 1 ADAM3B ID|HUgn0001596 DID|LocusLink:1596 CLA|Pseudogene ORG|Homo sapiens DBA|NA:Y10615 SYM|ADAM3B NAM|a disintegrin and metalloproteinase domain 3b (cyritestin 2) SYN|CYRN2 CHR|16 DBL|OMIM:602073 |SNP:1596 MAP|16q12.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6045443 } # EOR GENR { RETE|ID 1 HUgn0001598 DID 1 LocusLink:1598 NAM 1 cataract, zonular pulverulent 2 ORG 1 Homo sapiens SYM 1 CZP2 ID|HUgn0001598 DID|LocusLink:1598 ORG|Homo sapiens SYM|CZP2 NAM|cataract, zonular pulverulent 2 SYN|CAE2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128382 } # EOR GENR { RETE|ID 1 HUgn0001600 CHR 1 1 DID 1 LocusLink:1600 MAP 1 1p32-p31 NAM 1 disabled homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DAB1 ID|HUgn0001600 DID|LocusLink:1600 ORG|Homo sapiens RSQ|REFSEQ:NM_021080 RPA|REFPROT:NP_066566 DBA|XM:NM_021080 |NA:AL139219 |NA:AY174217 |NA:AF071062 |NA:AF263547 |NA:AK095513 |NA:none PAC|XP:NP_066566 SYM|DAB1 NAM|disabled homolog 1 (Drosophila) FNC|disabled homolog 1 |development ; GO:0007275 |neurogenesis ; GO:0007399 REAB|The laminar organization of multiple neuronal types in the cerebral cortex is required |for normal cognitive function. In mice, the disabled-1 gene plays a central role |in brain development, directing the migration of cortical neurons past previously |formed neurons to reach their proper layer. This gene is similar to disabled-1, |and the protein encoded by this gene is thought to be a signal transducer that interacts |with protein kinase pathways to regulate neuronal positioning in the developing |brain. Alternatively spliced transcript variants of this gene have been reported, |but their full length nature has not been determined. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333942 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1600[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848665 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021080 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021080 DBL|UNIGENE:Hs.333942 |OMIM:603448 |SNP:1600 MAP|1p32-p31 HG|species == rat; score == 979; expect == 0.0; MEOW:ref|NP_705885.1| (96%) |species == Mouse; gene == Dab1; score == 395; expect == 1e-110; MEOW:MGgn0003165 (99%) |species == Human; gene == DAB2; score == 216; expect == 2.0e-56; MEOW:HUgn0001601 (46%) |species == Mosquito; score == 146; expect == 1.4e-35; MEOW:AGgn0004338 (52%) } # EOR GENR { RETE|ID 1 HUgn0001601 CHR 1 5 DID 1 LocusLink:1601 MAP 1 5p13 NAM 1 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) ORG 1 Homo sapiens SYM 1 DAB2 ID|HUgn0001601 DID|LocusLink:1601 ORG|Homo sapiens RSQ|REFSEQ:NM_001343 RPA|REFPROT:NP_001334 DBA|XM:NM_001343 |NA:U41111 |NA:AF188298 |NA:AK024965 |NA:BC003064 |NA:U39050 |NA:U53446 |NA:none PAC|XP:NP_001334 SYM|DAB2 NAM|disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) SYN|DOC2 |DOC-2 FNC|disabled homolog 2 |regulation of transcription, DNA-dependent ; GO:0006355 |cell proliferation ; GO:0008283 REAB|DAB2 mRNA is expressed in normal ovarian epithelial cells but is down-regulated or |absent from ovarian carcinoma cell lines. The 770-amino acid predicted protein has |an overall 83% identity with the mouse p96 protein, a putative mitogen-responsive |phosphoprotein; homology is strongest in the amino-terminal end of the protein in |a region corresponding to the phosphotyrosine interaction domain. The down-regulation |of DAB2 may play an important role in ovarian carcinogenesis. This gene was initially |named DOC2 (for Differentially expressed in Ovarian Cancer) and is distinct from |the DOC2A and DOC2B genes (for double C2-like domains, alpha and beta). CHR|5 PRD|mitogen-responsive phosphoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81988 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1601[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862908 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001343 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001343 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81988 DBL|UNIGENE:Hs.81988 |OMIM:601236 |SNP:1601 MAP|5p13 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dab2; score == 1117; expect == 0.0; MEOW:MGgn0003166 (82%) |species == rat; score == 1068; expect == 0.0; MEOW:ref|XP_346617.1| (78%) |species == Human; gene == DAB1; score == 216; expect == 2.0e-56; MEOW:HUgn0001600 (46%) |species == Mosquito; score == 144; expect == 3.4e-34; MEOW:AGgn0004338 (48%) } # EOR GENR { RETE|ID 1 HUgn0001602 CHR 1 13 DID 1 LocusLink:1602 MAP 1 13q22 NAM 1 dachshund homolog (Drosophila) ORG 1 Homo sapiens SYM 1 DACH ID|HUgn0001602 DID|LocusLink:1602 ORG|Homo sapiens RSQ|REFSEQ:NM_004392 |REFSEQ:NM_080759 |REFSEQ:NM_080760 RPA|REFPROT:NP_004383 |REFPROT:NP_542937 |REFPROT:NP_542938 DBA|XM:NM_004392 |XM:NM_080759 |XM:NM_080760 |NA:AL139186 |NA:AL163542 |NA:AF069509 |NA:AF102546 |NA:AF356492 |NA:AJ005670 |NA:AK001000 |NA:AL079278 |NA:BC021219 PAC|XP:NP_004383 |XP:NP_542937 |XP:NP_542938 SYM|DACH NAM|dachshund homolog (Drosophila) SYN|DACH1 |FLJ10138 FNC|dachshund homolog isoform a |dachshund homolog isoform b |dachshund homolog isoform c |cell growth and/or maintenance ; GO:0008151 REAB|This gene is similar to the Drosophila melanogaster dachshund gene, which encodes |a nuclear factor essential for determining cell fates in the eye, leg, and nervous |system of the fly. It is a member of the Ski gene family and thought to be involved |in eye development. Four alternatively spliced transcripts encoding different isoforms |have been described for this gene. CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=63931 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1602[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835876 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080759 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080759 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=63931 DBL|UNIGENE:Hs.63931 |OMIM:603803 |SNP:1602 MAP|13q22 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dach1; score == 344; expect == 6.5e-95; MEOW:MGgn0003168 (83%) |species == Zfish; gene == dachc; score == 284; expect == 4.8e-78; MEOW:ZFgn0002516 (79%) |species == Zfish; gene == dacha; score == 235; expect == 3.3e-63; MEOW:ZFgn0002515 (73%) |species == rat; score == 228; expect == 8.0e-60; MEOW:ref|XP_341365.1| (90%) |species == Human; gene == DACH2; score == 216; expect == 2.9e-56; MEOW:HUgn0117154 (56%) |species == rat; score == 206; expect == 3.3e-53; MEOW:ref|XP_224440.2| (97%) |species == Fruitfly; gene == dac; score == 181; expect == 6.5e-46; MEOW:FBgn0005677 (62%) |species == Worm; gene == dac-1; score == 154; expect == 7.6e-38; MEOW:CEgn0033148 (65%) } # EOR GENR { RETE|ID 1 HUgn0001603 CHR 1 14 DID 1 LocusLink:1603 MAP 1 14q11-q12 NAM 1 defender against cell death 1 ORG 1 Homo sapiens SYM 1 DAD1 ID|HUgn0001603 DID|LocusLink:1603 ORG|Homo sapiens RSQ|REFSEQ:NM_001344 RPA|REFPROT:NP_001335 DBA|XM:NM_001344 |NA:U84213 |NA:BC007403 |NA:BC009798 |NA:BC038575 |NA:D15057 |NA:none PAC|XP:NP_001335 SYM|DAD1 NAM|defender against cell death 1 FNC|defender against cell death 1 |anti-apoptosis ; GO:0006916 |protein amino acid glycosylation ; GO:0006486 |apoptosis ; GO:0006915 REAB|DAD1, the defender against apoptotic cell death, was initially identified as a negative |regulator of programmed cell death in the temperature sensitive tsBN7 cell line. | The DAD1 protein disappeared in temperature-sensitive cells following a shift to |the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered |apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase |both in the intact membrane and in the purified enzyme, thus reflecting the essential |nature of N-linked glycosylation in eukaryotes. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82890 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1603[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:407505 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001344 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001344 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82890 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27136 DBL|UNIGENE:Hs.82890 |OMIM:600243 |SNP:1603 MAP|14q11-q12 PHP|Temperature-sensitive apoptosis ENZ|apoptosis inhibitor activity ; GO:0008189 CEL|oligosaccharyl transferase complex ; GO:0008250 |microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dad1; score == 194; expect == 3.0e-51; MEOW:MGgn0003169 (100%) |species == rat; score == 194; expect == 4.6e-51; MEOW:ref|NP_620265.1| (100%) |species == Mosquito; gene == LOC19361; score == 156; expect == 2.4e-39; MEOW:AGgn0019361 (66%) |species == Worm; gene == dad-1; score == 151; expect == 4.5e-38; MEOW:CEgn0000343 (61%) |species == Fruitfly; gene == CG13393; score == 144; expect == 9.4e-36; MEOW:FBgn0032035 (71%) } # EOR GENR { RETE|ID 1 HUgn0001604 CHR 1 1 DID 1 LocusLink:1604 MAP 1 1q32 NAM 1 decay accelerating factor for complement (CD55, Cromer blood group system) ORG 1 Homo sapiens SYM 1 DAF ID|HUgn0001604 DID|LocusLink:1604 ORG|Homo sapiens RSQ|REFSEQ:NM_000574 RPA|REFPROT:NP_000565 DBA|XM:NM_000574 |NA:AF052110 |NA:AY055757 |NA:AY055758 |NA:AY055760 |NA:BC001288 |NA:BT007159 |NA:M15799 |NA:M30142 |NA:M31516 |NA:U88576 PAC|XP:NP_000565 SYM|DAF NAM|decay accelerating factor for complement (CD55, Cromer blood group system) SYN|CR |TC |CD55 FNC|decay accelerating factor for complement (CD55, Cromer blood group system) CHR|1 PRD|Decay-accelerating factor of complement URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408864 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1604[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119088 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000574 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000574 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408864 DBL|UNIGENE:Hs.408864 |OMIM:125240 |SNP:1604 |PROW:1347655307 MAP|1q32 PHP|Decay accelerating factor for complement; inhibits the amplification of the complement cascade; has repetitive units found in complement proteins CEL|soluble fraction ; GO:0005625 |integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 625; expect == 1e-179; MEOW:sp|Q9MYJ6|Q9MYJ6 (98%) |species == chimp; score == 562; expect == 7e-161; MEOW:sp|Q9MYJ5|Q9MYJ5 (86%) |species == Mouse; gene == Daf1; score == 367; expect == 8e-102; MEOW:MGgn0003170 (48%) |species == Mouse; gene == Daf2; score == 343; expect == 9.9e-95; MEOW:MGgn0003171 (47%) |species == rat; score == 339; expect == 2.2e-93; MEOW:ref|NP_071605.1| (47%) |species == Human; gene == CR1; score == 168; expect == 2.7e-41; MEOW:HUgn0001378 (37%) |species == Human; gene == CR1L; score == 155; expect == 3.5e-38; MEOW:HUgn0001379 (40%) |species == Human; gene == C4BPA; score == 154; expect == 1.0e-37; MEOW:HUgn0000722 (40%) } # EOR GENR { RETE|ID 1 HUgn0001605 CHR 1 3 DID 1 LocusLink:1605 MAP 1 3p21 NAM 1 dystroglycan 1 (dystrophin-associated glycoprotein 1) ORG 1 Homo sapiens SYM 1 DAG1 ID|HUgn0001605 DID|LocusLink:1605 ORG|Homo sapiens RSQ|REFSEQ:NM_004393 RPA|REFPROT:NP_004384 DBA|XM:NM_004393 |NA:BC012740 |NA:BC014616 |NA:L19711 |NA:none PAC|XP:NP_004384 SYM|DAG1 NAM|dystroglycan 1 (dystrophin-associated glycoprotein 1) SYN|A3a |DAG |AGRNR FNC|dystroglycan 1 precursor |muscle contraction ; GO:0006936 |invasive growth ; GO:0007125 |protein complex assembly ; GO:0006461 REAB|Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex |which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular |matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal |recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne |muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular |matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also |functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. |The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties |but not protein sequence. CHR|3 PRD|156DAG |alpha-dystroglycan |Dystrophin-associated glycoprotein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76111 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1605[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136419 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004393 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004393 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76111 |http://www.dmd.nl DBL|UNIGENE:Hs.76111 |OMIM:128239 |SNP:1605 MAP|3p21 ENZ|laminin receptor activity ; GO:0005055 |protein binding ; GO:0005515 |cell adhesion receptor activity ; GO:0004895 CEL|extracellular matrix ; GO:0005578 |integral to plasma membrane ; GO:0005887 |actin cytoskeleton ; GO:0015629 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Dag1; score == 1377; expect == 0.0; MEOW:MGgn0003172 (92%) |species == rat; score == 1371; expect == 0.0; MEOW:ref|XP_343484.1| (92%) |species == Zfish; gene == dag1; score == 436; expect == 1e-123; MEOW:ZFgn0002659 (65%) |species == Fruitfly; gene == Dg; score == 159; expect == 7.4e-39; MEOW:FBgn0034072 (30%) |species == Mosquito; score == 151; expect == 9.4e-37; MEOW:AGgn0015605 (29%) } # EOR GENR { RETE|ID 1 HUgn0001606 CHR 1 12 DID 1 LocusLink:1606 MAP 1 12q13.3 NAM 1 diacylglycerol kinase, alpha 80kDa ORG 1 Homo sapiens SYM 1 DGKA ID|HUgn0001606 DID|LocusLink:1606 ORG|Homo sapiens RSQ|REFSEQ:NM_001345 RPA|REFPROT:NP_001336 DBA|XM:NM_001345 |NA:AF064767 |NA:AF064769 |NA:AF064770 |NA:AF064771 |NA:AK122973 |NA:AK127093 |NA:BC023523 |NA:BC031870 |NA:X62535 |NA:none PAC|XP:NP_001336 SYM|DGKA NAM|diacylglycerol kinase, alpha 80kDa SYN|DAGK |DAGK1 |DGK-alpha FNC|diacylglycerol kinase, alpha 80kDa CHR|12 PRD|diacylglycerol kinase, alpha (80kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172690 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1606[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126733 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001345 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001345 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.1002 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172690 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.172690 |OMIM:125855 |SNP:1606 ENZ|EC:2.7.1.107 MAP|12q13.3 HG|species == rat; score == 1254; expect == 0.0; MEOW:ref|NP_542965.1| (82%) |species == Mouse; gene == Dgka; score == 1252; expect == 0.0; MEOW:MGgn0003173 (82%) |species == Human; gene == DGKB; score == 885; expect == 0.0; MEOW:HUgn0001607 (56%) |species == Human; gene == DGKG; score == 779; expect == 0.0; MEOW:HUgn0001608 (52%) |species == Worm; gene == dgk-3; score == 651; expect == 0.0; MEOW:CEgn0011847 (45%) |species == Mosquito; gene == LOC5827; score == 471; expect == 1e-132; MEOW:AGgn0005827 (55%) |species == Fruitfly; gene == rdgA; score == 287; expect == 1.3e-77; MEOW:FBgn0003217 (33%) |species == Weed; gene == At5g63770; score == 243; expect == 3.6e-64; MEOW:ATgn0023362 (39%) |species == Fruitfly; gene == Dgk; score == 238; expect == 1.3e-62; MEOW:FBgn0004568 (51%) |species == rice; score == 238; expect == 9.0e-63; MEOW:gnl|TIGR|8359.m01132 (37%) |species == Weed; gene == At5g07920; score == 231; expect == 8.4e-61; MEOW:ATgn0021431 (38%) |species == Fruitfly; gene == Dgk&egr;; score == 230; expect == 1.3e-60; MEOW:FBgn0020930 (31%) |species == rice; score == 193; expect == 3.1e-49; MEOW:gnl|TIGR|8359.m03681 (34%) } # EOR GENR { RETE|ID 1 HUgn0001607 CHR 1 7 DID 1 LocusLink:1607 MAP 1 7p21.3 NAM 1 diacylglycerol kinase, beta 90kDa ORG 1 Homo sapiens SYM 1 DGKB ID|HUgn0001607 DID|LocusLink:1607 ORG|Homo sapiens RSQ|REFSEQ:NM_004080 |REFSEQ:NM_145695 RPA|REFPROT:NP_004071 |REFPROT:NP_663733 DBA|XM:NM_004080 |XM:NM_145695 |XM:NM_004080 |XM:NM_145695 |NA:AC005248 |NA:AX032742 |NA:AX032745 |NA:AB018261 |NA:none PAC|XP:NP_004071 |XP:NP_663733 |XP:NP_004071 |XP:NP_663733 SYM|DGKB NAM|diacylglycerol kinase, beta 90kDa SYN|DGK |DAGK2 |DGK-BETA |KIAA0718 FNC|diacylglycerol kinase, beta isoform 1 |diacylglycerol kinase, beta isoform 2 |protein kinase C activation ; GO:0007205 |intracellular signaling cascade ; GO:0007242 REAB|Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of |the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. |Nine mammalian isotypes have been identified, which are encoded by separate genes. |Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich |domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta |isotype. Two alternatively spliced transcript variants have been found for this |gene. CHR|7 PRD|diacylglycerol kinase, beta (90kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=158318 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1607[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:381615 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004080 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004080 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0718 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.158318 |OMIM:604070 |SNP:1607 ENZ|EC:2.7.1.107 |diacylglycerol kinase activity ; GO:0004143 |calcium ion binding ; GO:0005509 |transferase activity ; GO:0016740 |diacylglycerol binding ; GO:0019992 MAP|7p21.3 HG|species == Human; gene == DGKG; score == 1012; expect == 0.0; MEOW:HUgn0001608 (59%) |species == Mouse; gene == Dgkg; score == 1001; expect == 0.0; MEOW:MGgn0003174 (59%) |species == rat; score == 972; expect == 0.0; MEOW:ref|XP_346769.1| (96%) |species == Human; gene == DGKA; score == 885; expect == 0.0; MEOW:HUgn0001606 (56%) |species == Mouse; gene == Dgkb; score == 869; expect == 0.0; MEOW:MGgn0043638 (96%) |species == Mouse; gene == Dgka; score == 841; expect == 0.0; MEOW:MGgn0003173 (55%) |species == rat; score == 839; expect == 0.0; MEOW:ref|NP_542965.1| (54%) |species == Worm; gene == dgk-3; score == 758; expect == 0.0; MEOW:CEgn0011847 (50%) |species == Mosquito; gene == LOC5827; score == 556; expect == 1e-158; MEOW:AGgn0005827 (59%) |species == Fruitfly; gene == rdgA; score == 313; expect == 1.4e-85; MEOW:FBgn0003217 (35%) |species == rice; score == 282; expect == 1.3e-75; MEOW:gnl|TIGR|8359.m01132 (32%) |species == Fruitfly; gene == Dgk; score == 274; expect == 1.2e-73; MEOW:FBgn0004568 (57%) |species == Weed; gene == At5g63770; score == 268; expect == 7.0e-72; MEOW:ATgn0023362 (32%) |species == Weed; gene == At5g07920; score == 254; expect == 1.2e-67; MEOW:ATgn0021431 (42%) } # EOR GENR { RETE|ID 1 HUgn0001608 CHR 1 3 DID 1 LocusLink:1608 MAP 1 3q27-q28 NAM 1 diacylglycerol kinase, gamma 90kDa ORG 1 Homo sapiens SYM 1 DGKG ID|HUgn0001608 DID|LocusLink:1608 ORG|Homo sapiens RSQ|REFSEQ:NM_001346 RPA|REFPROT:NP_001337 DBA|XM:NM_001346 |NA:AF020945 |NA:D26135 |NA:none PAC|XP:NP_001337 SYM|DGKG NAM|diacylglycerol kinase, gamma 90kDa SYN|DAGK3 |DGK-GAMMA FNC|diacylglycerol kinase, gamma 90kDa |protein kinase C activation ; GO:0007205 |intracellular signaling cascade ; GO:0007242 CHR|3 PRD|diacylglycerol kinase, gamma (90kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89462 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1608[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:377343 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001346 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001346 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.89462 |OMIM:601854 |SNP:1608 ENZ|EC:2.7.1.107 |diacylglycerol kinase activity ; GO:0004143 |calcium ion binding ; GO:0005509 |transferase activity ; GO:0016740 |diacylglycerol binding ; GO:0019992 MAP|3q27-q28 HG|species == Mouse; gene == Dgkg; score == 1451; expect == 0.0; MEOW:MGgn0003174 (89%) |species == Human; gene == DGKB; score == 1012; expect == 0.0; MEOW:HUgn0001607 (59%) |species == rat; score == 788; expect == 0.0; MEOW:ref|XP_346421.1| (93%) |species == rat; score == 746; expect == 0.0; MEOW:ref|NP_542965.1| (58%) |species == Worm; gene == dgk-3; score == 706; expect == 0.0; MEOW:CEgn0011847 (46%) |species == Mosquito; gene == LOC5827; score == 480; expect == 1e-135; MEOW:AGgn0005827 (56%) |species == Fruitfly; gene == rdgA; score == 288; expect == 4.9e-78; MEOW:FBgn0003217 (33%) |species == rice; score == 269; expect == 1.2e-71; MEOW:gnl|TIGR|8359.m01132 (39%) |species == Fruitfly; gene == Dgk; score == 258; expect == 9.2e-69; MEOW:FBgn0004568 (55%) |species == Weed; gene == At5g07920; score == 254; expect == 1.2e-67; MEOW:ATgn0021431 (39%) |species == Weed; gene == At5g63770; score == 250; expect == 2.9e-66; MEOW:ATgn0023362 (40%) |species == rice; score == 217; expect == 5.2e-56; MEOW:gnl|TIGR|8360.m02833 (40%) } # EOR GENR { RETE|ID 1 HUgn0001609 CHR 1 4 DID 1 LocusLink:1609 MAP 1 4p16.3 NAM 1 diacylglycerol kinase, theta 110kDa ORG 1 Homo sapiens SYM 1 DGKQ ID|HUgn0001609 DID|LocusLink:1609 ORG|Homo sapiens RSQ|REFSEQ:NM_001347 RPA|REFPROT:NP_001338 DBA|XM:NM_001347 |NA:L38707 |NA:none PAC|XP:NP_001338 SYM|DGKQ NAM|diacylglycerol kinase, theta 110kDa SYN|DAGK |DAGK4 |DAGK7 FNC|diacylglycerol kinase, theta (110kD) |neuropeptide signaling pathway ; GO:0007218 |protein kinase C activation ; GO:0007205 |intracellular signaling cascade ; GO:0007242 REAB|Diacylglycerol kinase, theta (110kD) mediates the regeneration of phosphatidylinositol |(PI) from diacylglycerol in the PI-cycle during cell signal transduction. CHR|4 PRD|Diacylglycerol kinase (110kD) |diacylglycerol kinase, delta (110kD) |diacylglycerol kinase, theta (110kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99932 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1609[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1326973 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001347 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001347 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.99932 |OMIM:601207 |SNP:1609 ENZ|EC:2.7.1.107 |diacylglycerol kinase activity ; GO:0004143 |transferase activity ; GO:0016740 |diacylglycerol binding ; GO:0019992 MAP|4p16.3 HG|species == rat; score == 1449; expect == 0.0; MEOW:ref|XP_223739.2| (76%) |species == Worm; gene == dgk-1; score == 561; expect == 8e-160; MEOW:CEgn0000396 (37%) |species == rice; score == 259; expect == 5.0e-69; MEOW:gnl|TIGR|8359.m01132 (44%) |species == Mouse; gene == Dgkg; score == 255; expect == 6.0e-68; MEOW:MGgn0003174 (41%) |species == Human; gene == DGKB; score == 254; expect == 1.8e-67; MEOW:HUgn0001607 (41%) |species == Mouse; gene == Dgke; score == 252; expect == 4.5e-67; MEOW:MGgn0014494 (43%) |species == Weed; gene == At5g07920; score == 251; expect == 1.0e-66; MEOW:ATgn0021431 (41%) |species == Human; gene == DGKG; score == 251; expect == 1.1e-66; MEOW:HUgn0001608 (42%) |species == Human; gene == DGKE; score == 251; expect == 1.0e-66; MEOW:HUgn0008526 (43%) |species == Weed; gene == At5g63770; score == 247; expect == 1.4e-65; MEOW:ATgn0023362 (45%) |species == Mouse; gene == Dgkz; score == 241; expect == 1.1e-63; MEOW:MGgn0003397 (39%) |species == Human; gene == DGKZ; score == 238; expect == 9.0e-63; MEOW:HUgn0008525 (39%) |species == Mouse; gene == Dgka; score == 237; expect == 2.0e-62; MEOW:MGgn0003173 (39%) |species == Human; gene == LOC283510; score == 233; expect == 2.9e-61; MEOW:HUgn0283510 (39%) |species == Fruitfly; gene == rdgA; score == 229; expect == 1.2e-59; MEOW:FBgn0003217 (40%) |species == Human; gene == DGKI; score == 223; expect == 6.0e-58; MEOW:HUgn0009162 (39%) |species == Human; gene == DGKA; score == 212; expect == 5.3e-55; MEOW:HUgn0001606 (38%) |species == Fruitfly; gene == Dgk&egr;; score == 203; expect == 2.2e-52; MEOW:FBgn0020930 (35%) |species == Fruitfly; gene == CG31140; score == 200; expect == 6.0e-52; MEOW:FBgn0051140 (56%) |species == Mosquito; gene == LOC5827; score == 164; expect == 1.2e-40; MEOW:AGgn0005827 (44%) } # EOR GENR { RETE|ID 1 HUgn0001610 CHR 1 12 DID 1 LocusLink:1610 MAP 1 12q24 NAM 1 D-amino-acid oxidase ORG 1 Homo sapiens SYM 1 DAO ID|HUgn0001610 DID|LocusLink:1610 ORG|Homo sapiens RSQ|REFSEQ:NM_001917 RPA|REFPROT:NP_001908 DBA|XM:NM_001917 |NA:D11370 |NA:BC029057 |NA:BX538210 |NA:none PAC|XP:NP_001908 SYM|DAO NAM|D-amino-acid oxidase SYN|DAAO |OXDA |DAMOX |MGC35381 FNC|D-amino-acid oxidase |electron transport ; GO:0006118 REAB|This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein |which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates |include a wide variety of D-amino acids, but it is inactive on the naturally occurring |L-amino acids. Its biological function is not known; it has been suggested that |it is involved in acid-base balance in the kidney, or it may be a fossil enzyme |without a current function. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1610[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135365 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001917 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001917 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=113227 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00472 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.113227 |OMIM:124050 |SNP:1610 ENZ|EC:1.4.3.3 |D-amino-acid oxidase activity ; GO:0003884 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|12q24 PHP|Schizophrenia CEL|peroxisome ; GO:0005777 HG|species == Mouse; gene == Dao1; score == 607; expect == 3e-174; MEOW:MGgn0003176 (80%) |species == rat; score == 607; expect == 4e-174; MEOW:ref|NP_446078.1| (80%) |species == Human; gene == DDO; score == 243; expect == 8.7e-65; MEOW:HUgn0008528 (38%) |species == Worm; gene == Y69A2AR.5; score == 196; expect == 1.1e-50; MEOW:CEgn0028691 (34%) |species == Mosquito; score == 185; expect == 1.6e-47; MEOW:AGgn0012045 (34%) |species == Mosquito; gene == LOC20950; score == 169; expect == 1.2e-42; MEOW:AGgn0020950 (34%) |species == Mosquito; score == 167; expect == 1.0e-41; MEOW:AGgn0020495 (31%) |species == Fruitfly; gene == CG12338; score == 162; expect == 2.0e-40; MEOW:FBgn0033543 (34%) |species == Worm; gene == C47A10.5; score == 159; expect == 1.1e-39; MEOW:CEgn0006626 (32%) |species == Fruitfly; gene == CG11236; score == 148; expect == 2.2e-36; MEOW:FBgn0031860 (31%) } # EOR GENR { RETE|ID 1 HUgn0001611 CHR 1 5 DID 1 LocusLink:1611 MAP 1 5p15.2 NAM 1 death-associated protein ORG 1 Homo sapiens SYM 1 DAP ID|HUgn0001611 DID|LocusLink:1611 ORG|Homo sapiens RSQ|REFSEQ:NM_004394 RPA|REFPROT:NP_004385 DBA|XM:NM_004394 |NA:BC002726 |NA:X76105 PAC|XP:NP_004385 SYM|DAP NAM|death-associated protein FNC|death-associated protein |induction of apoptosis by extracellular signals ; GO:0008624 REAB|DAP gene encodes a basic, proline-rich, 15-kD protein. Death-associated protein |acts as a positive mediator of programmed cell death that is induced by interferon-gamma. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75189 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1611[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:630383 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004394 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004394 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75189 DBL|UNIGENE:Hs.75189 |OMIM:600954 |SNP:1611 MAP|5p15.2 HG|species == rat; score == 179; expect == 2.7e-46; MEOW:ref|NP_071971.1| (92%) } # EOR GENR { RETE|ID 1 HUgn0001612 CHR 1 9 DID 1 LocusLink:1612 MAP 1 9q34.1 NAM 1 death-associated protein kinase 1 ORG 1 Homo sapiens SYM 1 DAPK1 ID|HUgn0001612 DID|LocusLink:1612 ORG|Homo sapiens RSQ|REFSEQ:NM_004938 RPA|REFPROT:NP_004929 DBA|XM:NM_004938 |NA:BT006935 |NA:X76104 |NA:none PAC|XP:NP_004929 SYM|DAPK1 NAM|death-associated protein kinase 1 SYN|DAPK FNC|death-associated protein kinase 1 |induction of apoptosis by extracellular signals ; GO:0008624 |protein amino acid phosphorylation ; GO:0006468 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 REAB|Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced |programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent |serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus |sites. It is a tumor suppressor candidate. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=244318 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1612[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555932 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004938 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004938 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27142 DBL|UNIGENE:Hs.244318 |OMIM:600831 |SNP:1612 ENZ|EC:2.7.1.- |calmodulin-dependent protein kinase I activity ; GO:0004684 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |calmodulin binding ; GO:0005516 |transferase activity ; GO:0016740 MAP|9q34.1 HG|species == Mouse; gene == Dapk1; score == 2627; expect == 0.0; MEOW:MGgn0019845 (93%) |species == rat; score == 2423; expect == 0.0; MEOW:ref|XP_225138.2| (92%) |species == Worm; gene == K12C11.4; score == 731; expect == 0.0; MEOW:CEgn0013860 (34%) |species == Human; gene == DAPK2; score == 503; expect == 5e-143; MEOW:HUgn0023604 (68%) |species == Human; gene == DAPK3; score == 450; expect == 3e-126; MEOW:HUgn0001613 (82%) |species == Fruitfly; gene == Strn-Mlck; score == 246; expect == 3.3e-65; MEOW:FBgn0013988 (40%) |species == Mosquito; gene == LOC17230; score == 243; expect == 1.1e-64; MEOW:AGgn0017230 (45%) |species == Fruitfly; gene == CG1776; score == 236; expect == 1.9e-62; MEOW:FBgn0033441 (43%) |species == Mosquito; gene == LOC8560; score == 235; expect == 9.4e-61; MEOW:AGgn0008560 (40%) |species == Mosquito; gene == LOC17382; score == 235; expect == 9.2e-61; MEOW:AGgn0017382 (40%) |species == Mosquito; score == 234; expect == 2.3e-61; MEOW:AGgn0006336 (38%) |species == Mosquito; score == 223; expect == 7.7e-59; MEOW:AGgn0020228 (43%) |species == Weed; gene == At5g04870; score == 209; expect == 3.7e-54; MEOW:ATgn0024791 (39%) |species == Weed; gene == At3g10660; score == 208; expect == 6.6e-54; MEOW:ATgn0014989 (39%) |species == rice; score == 208; expect == 1.1e-53; MEOW:gnl|TIGR|8359.m02826 (39%) |species == Mosquito; gene == LOC11924; score == 206; expect == 1.3e-53; MEOW:AGgn0011924 (40%) |species == Weed; gene == At2g38910; score == 204; expect == 1.5e-52; MEOW:ATgn0009461 (34%) |species == Weed; gene == At5g19360; score == 203; expect == 2.8e-52; MEOW:ATgn0025007 (37%) |species == rice; score == 203; expect == 1.9e-52; MEOW:gnl|TIGR|8360.m05164 (38%) |species == rice; score == 200; expect == 1.7e-51; MEOW:gnl|TIGR|8360.m05158 (38%) |species == Weed; gene == At1g50700; score == 199; expect == 2.4e-51; MEOW:ATgn0001889 (36%) |species == Fruitfly; gene == CG32666; score == 199; expect == 7.4e-51; MEOW:FBgn0052666 (40%) |species == Weed; gene == At2g35890; score == 198; expect == 7.0e-51; MEOW:ATgn0007660 (36%) |species == Mosquito; gene == LOC19618; score == 195; expect == 1.0e-49; MEOW:AGgn0019618 (41%) |species == Weed; gene == At2g17290; score == 193; expect == 1.8e-49; MEOW:ATgn0028316 (34%) |species == Weed; gene == At3g20410; score == 192; expect == 1.5e-48; MEOW:ATgn0013110 (39%) |species == Weed; gene == At4g04720; score == 190; expect == 5.9e-48; MEOW:ATgn0020647 (38%) |species == rice; score == 190; expect == 1.8e-48; MEOW:gnl|TIGR|8350.m05560 (37%) |species == Weed; gene == At4g35310; score == 189; expect == 3.5e-48; MEOW:ATgn0019978 (34%) |species == rice; score == 189; expect == 3.3e-48; MEOW:gnl|TIGR|8362.m03181 (36%) |species == Weed; gene == At5g12180; score == 188; expect == 1.7e-47; MEOW:ATgn0025325 (39%) |species == rice; score == 186; expect == 1.4e-46; MEOW:gnl|TIGR|8355.m03099 (38%) |species == rice; score == 183; expect == 2.1e-45; MEOW:gnl|TIGR|8355.m00566 (38%) |species == Weed; gene == At5g12480; score == 181; expect == 3.6e-45; MEOW:ATgn0030170 (38%) |species == Weed; gene == At3g49370; score == 180; expect == 2.3e-45; MEOW:ATgn0015057 (37%) |species == rice; score == 180; expect == 1.3e-44; MEOW:gnl|TIGR|8359.m00296 (38%) |species == rice; score == 179; expect == 3.0e-44; MEOW:gnl|TIGR|8358.m00621 (38%) |species == rice; score == 178; expect == 3.9e-44; MEOW:gnl|TIGR|8358.m00316 (38%) |species == rice; score == 178; expect == 5.1e-44; MEOW:gnl|TIGR|8360.m00262 (39%) |species == rice; score == 178; expect == 7.2e-45; MEOW:gnl|TIGR|8362.m02905 (40%) |species == rice; score == 177; expect == 6.7e-44; MEOW:gnl|TIGR|8353.m04539 (38%) |species == Weed; gene == At3g50530; score == 175; expect == 5.7e-44; MEOW:ATgn0016492 (32%) |species == Weed; gene == At2g17890; score == 175; expect == 7.0e-44; MEOW:ATgn0028414 (35%) |species == Weed; gene == At3g19100; score == 172; expect == 6.3e-43; MEOW:ATgn0016532 (37%) |species == Weed; gene == At5g24430; score == 171; expect == 7.2e-43; MEOW:ATgn0023324 (40%) |species == rice; score == 170; expect == 2.6e-42; MEOW:gnl|TIGR|8355.m04075 (36%) |species == Yeast; gene == HSL1; score == 165; expect == 4.3e-41; MEOW:SGgn0001584 (38%) |species == Yeast; gene == RAD53; score == 164; expect == 9.5e-41; MEOW:SGgn0006074 (35%) |species == Zfish; gene == cask; score == 164; expect == 1.7e-41; MEOW:ZFgn0002612 (34%) |species == chimp; score == 162; expect == 2.9e-41; MEOW:sp|BAC81132|BAC81132 (35%) |species == Yeast; gene == CMK1; score == 161; expect == 6.2e-40; MEOW:SGgn0001910 (37%) |species == Yeast; gene == CMK2; score == 161; expect == 1.1e-39; MEOW:SGgn0005376 (32%) |species == Yeast; gene == GIN4; score == 154; expect == 9.9e-38; MEOW:SGgn0002915 (38%) |species == Yeast; gene == DUN1; score == 147; expect == 9.2e-36; MEOW:SGgn0002259 (32%) |species == Yeast; gene == SNF1; score == 147; expect == 1.6e-35; MEOW:SGgn0002885 (36%) |species == Yeast; gene == KCC4; score == 144; expect == 7.8e-35; MEOW:SGgn0000529 (37%) |species == Yeast; gene == IPL1; score == 140; expect == 1.5e-33; MEOW:SGgn0006130 (32%) |species == Yeast; gene == YPL141C; score == 134; expect == 1.1e-31; MEOW:SGgn0006062 (33%) } # EOR GENR { RETE|ID 1 HUgn0001613 CHR 1 19 DID 1 LocusLink:1613 MAP 1 19p13.3 NAM 1 death-associated protein kinase 3 ORG 1 Homo sapiens SYM 1 DAPK3 ID|HUgn0001613 DID|LocusLink:1613 ORG|Homo sapiens RSQ|REFSEQ:NM_001348 RPA|REFPROT:NP_001339 DBA|XM:NM_001348 |NA:AB007144 |NA:AB022341 |NA:AK027590 |NA:AK074799 |NA:AK097643 PAC|XP:NP_001339 SYM|DAPK3 NAM|death-associated protein kinase 3 SYN|ZIP |ZIPK FNC|death-associated protein kinase 3 |induction of apoptosis ; GO:0006917 |protein amino acid phosphorylation ; GO:0006468 REAB|Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis |when overexpressed in mammalian cells. These results suggest that DAPK3 may play |a role in the induction of apoptosis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153908 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1613[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836805 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001348 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001348 DBL|UNIGENE:Hs.153908 |OMIM:603289 |SNP:1613 MAP|19p13.3 ENZ|ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dapk3; score == 689; expect == 0.0; MEOW:MGgn0003178 (83%) |species == rat; score == 687; expect == 0.0; MEOW:ref|NP_071991.1| (83%) |species == Human; gene == DAPK2; score == 454; expect == 4e-128; MEOW:HUgn0023604 (74%) |species == Human; gene == DAPK1; score == 450; expect == 3e-126; MEOW:HUgn0001612 (82%) |species == Worm; gene == K12C11.4; score == 294; expect == 2.9e-79; MEOW:CEgn0013860 (55%) |species == Worm; gene == F12F3.2a; score == 242; expect == 2.5e-64; MEOW:CEgn0031915 (42%) |species == Worm; gene == F12F3.2b; score == 242; expect == 2.5e-64; MEOW:CEgn0031916 (42%) |species == Mosquito; gene == LOC8560; score == 241; expect == 1.0e-62; MEOW:AGgn0008560 (45%) |species == Mosquito; gene == LOC17382; score == 241; expect == 9.8e-63; MEOW:AGgn0017382 (45%) |species == Fruitfly; gene == Strn-Mlck; score == 236; expect == 5.9e-62; MEOW:FBgn0013988 (40%) |species == Mosquito; gene == LOC17230; score == 231; expect == 2.6e-61; MEOW:AGgn0017230 (46%) |species == Fruitfly; gene == CG1776; score == 229; expect == 1.8e-60; MEOW:FBgn0033441 (41%) |species == Mosquito; score == 228; expect == 4.1e-60; MEOW:AGgn0020228 (42%) |species == Mosquito; score == 226; expect == 6.4e-59; MEOW:AGgn0006336 (39%) |species == Weed; gene == At4g04720; score == 207; expect == 1.5e-53; MEOW:ATgn0020647 (40%) |species == Weed; gene == At5g12180; score == 206; expect == 2.6e-53; MEOW:ATgn0025325 (41%) |species == Weed; gene == At5g12480; score == 206; expect == 3.5e-53; MEOW:ATgn0030170 (40%) |species == Mosquito; gene == LOC11924; score == 205; expect == 2.2e-53; MEOW:AGgn0011924 (41%) |species == Weed; gene == At5g19360; score == 205; expect == 4.4e-53; MEOW:ATgn0025007 (41%) |species == Weed; gene == At5g19450; score == 205; expect == 5.9e-53; MEOW:ATgn0025024 (40%) |species == Mosquito; gene == LOC19618; score == 202; expect == 1.7e-52; MEOW:AGgn0019618 (39%) |species == Fruitfly; gene == CG32666; score == 202; expect == 2.4e-52; MEOW:FBgn0052666 (41%) |species == Weed; gene == At3g10660; score == 201; expect == 8.1e-52; MEOW:ATgn0014989 (38%) |species == rice; score == 198; expect == 5.5e-51; MEOW:gnl|TIGR|8355.m03099 (39%) |species == Weed; gene == At3g57530; score == 196; expect == 2.1e-50; MEOW:ATgn0017110 (36%) |species == Weed; gene == At2g35890; score == 193; expect == 1.7e-49; MEOW:ATgn0007660 (36%) |species == rice; score == 192; expect == 6.2e-49; MEOW:gnl|TIGR|8353.m04539 (38%) |species == Fruitfly; gene == CaMKII; score == 190; expect == 9.4e-49; MEOW:FBgn0004624 (37%) |species == rice; score == 190; expect == 1.9e-48; MEOW:gnl|TIGR|8350.m04003 (39%) |species == Weed; gene == At3g51850; score == 189; expect == 2.5e-48; MEOW:ATgn0011634 (38%) |species == Weed; gene == At1g12580; score == 188; expect == 5.5e-48; MEOW:ATgn0000928 (38%) |species == rice; score == 188; expect == 7.4e-48; MEOW:gnl|TIGR|8352.m04386 (39%) |species == rice; score == 188; expect == 1.8e-47; MEOW:gnl|TIGR|8360.m05158 (37%) |species == Weed; gene == At3g19100; score == 186; expect == 2.5e-47; MEOW:ATgn0016532 (37%) |species == rice; score == 183; expect == 2.1e-46; MEOW:gnl|TIGR|8359.m02840 (38%) |species == Weed; gene == At4g04740; score == 182; expect == 3.4e-46; MEOW:ATgn0020651 (38%) |species == Weed; gene == At5g04870; score == 182; expect == 3.4e-46; MEOW:ATgn0024791 (37%) |species == Weed; gene == At2g17890; score == 182; expect == 5.8e-46; MEOW:ATgn0028414 (33%) |species == Weed; gene == At3g20410; score == 181; expect == 5.7e-46; MEOW:ATgn0013110 (35%) |species == Weed; gene == At3g49370; score == 181; expect == 1.0e-45; MEOW:ATgn0015057 (36%) |species == rice; score == 181; expect == 2.1e-45; MEOW:gnl|TIGR|8359.m02826 (37%) |species == rice; score == 181; expect == 1.1e-45; MEOW:gnl|TIGR|8362.m02905 (37%) |species == rice; score == 180; expect == 3.7e-45; MEOW:gnl|TIGR|8355.m03610 (37%) |species == rice; score == 180; expect == 3.7e-45; MEOW:gnl|TIGR|8360.m05164 (36%) |species == Weed; gene == At4g36070; score == 179; expect == 4.5e-45; MEOW:ATgn0017249 (34%) |species == rice; score == 179; expect == 3.2e-45; MEOW:gnl|TIGR|8355.m04075 (37%) |species == Weed; gene == At2g41140; score == 178; expect == 8.4e-45; MEOW:ATgn0010869 (37%) |species == Weed; gene == At5g66210; score == 178; expect == 5.7e-45; MEOW:ATgn0025558 (33%) |species == Weed; gene == At1g49580; score == 177; expect == 2.0e-44; MEOW:ATgn0000927 (36%) |species == Weed; gene == At3g50530; score == 176; expect == 4.4e-44; MEOW:ATgn0016492 (33%) |species == Yeast; gene == CMK1; score == 176; expect == 5.2e-45; MEOW:SGgn0001910 (38%) |species == rice; score == 176; expect == 4.0e-44; MEOW:gnl|TIGR|8354.m00262 (38%) |species == rice; score == 176; expect == 4.0e-44; MEOW:gnl|TIGR|8358.m00316 (38%) |species == rice; score == 176; expect == 6.9e-44; MEOW:gnl|TIGR|8360.m00262 (37%) |species == rice; score == 176; expect == 2.4e-44; MEOW:gnl|TIGR|8360.m02259 (37%) |species == Weed; gene == At4g04700; score == 174; expect == 8.4e-44; MEOW:ATgn0020641 (36%) |species == Weed; gene == At3g56760; score == 172; expect == 4.6e-43; MEOW:ATgn0016408 (36%) |species == Yeast; gene == CMK2; score == 168; expect == 1.8e-42; MEOW:SGgn0005376 (35%) |species == Weed; gene == At2g46700; score == 166; expect == 3.4e-41; MEOW:ATgn0010715 (36%) |species == chimp; score == 166; expect == 3.5e-43; MEOW:sp|BAC81132|BAC81132 (33%) |species == Yeast; gene == RAD53; score == 158; expect == 1.9e-39; MEOW:SGgn0006074 (35%) |species == Zfish; gene == cask; score == 158; expect == 3.5e-40; MEOW:ZFgn0002612 (35%) |species == Yeast; gene == HSL1; score == 157; expect == 4.2e-39; MEOW:SGgn0001584 (41%) |species == Yeast; gene == DUN1; score == 156; expect == 9.4e-39; MEOW:SGgn0002259 (32%) |species == Yeast; gene == GIN4; score == 154; expect == 2.1e-38; MEOW:SGgn0002915 (33%) |species == Yeast; gene == SNF1; score == 152; expect == 1.0e-37; MEOW:SGgn0002885 (33%) } # EOR GENR { RETE|ID 1 HUgn0001615 CHR 1 2 DID 1 LocusLink:1615 MAP 1 2q22.1 NAM 1 aspartyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 DARS ID|HUgn0001615 DID|LocusLink:1615 ORG|Homo sapiens RSQ|REFSEQ:NM_001349 RPA|REFPROT:NP_001340 DBA|XM:NM_001349 |NA:AK129521 |NA:BC000629 |NA:BT006710 |NA:J05032 |NA:none PAC|XP:NP_001340 SYM|DARS NAM|aspartyl-tRNA synthetase FNC|aspartyl-tRNA synthetase |aspartyl-tRNA aminoacylation ; GO:0006422 |protein complex assembly ; GO:0006461 REAB|Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA |synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during |protein biosynthesis. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32393 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1615[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9622412 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001349 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001349 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=32393 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27146 DBL|UNIGENE:Hs.32393 |OMIM:603084 |SNP:1615 ENZ|EC:6.1.1.12 |aspartate-tRNA ligase activity ; GO:0004815 |aminoacylase activity ; GO:0004046 |nucleic acid binding ; GO:0003676 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|2q22.1 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Dars; score == 961; expect == 0.0; MEOW:MGgn0043623 (95%) |species == rat; score == 959; expect == 0.0; MEOW:ref|NP_446251.1| (94%) |species == Fruitfly; gene == Aats-asp; score == 673; expect == 0.0; MEOW:FBgn0002069 (68%) |species == Mosquito; gene == LOC17612; score == 663; expect == 0.0; MEOW:AGgn0017612 (67%) |species == Worm; gene == drs-1; score == 637; expect == 0.0; MEOW:CEgn0003539 (62%) |species == Yeast; gene == DPS1; score == 536; expect == 3e-153; MEOW:SGgn0003941 (56%) |species == rice; score == 456; expect == 2e-128; MEOW:gnl|TIGR|8351.m00372 (51%) |species == Weed; gene == At4g26870; score == 450; expect == 1e-126; MEOW:ATgn0018142 (48%) |species == Weed; gene == At4g31180; score == 441; expect == 3e-124; MEOW:ATgn0018676 (51%) |species == rice; score == 434; expect == 9e-122; MEOW:gnl|TIGR|8351.m04371 (50%) |species == Human; gene == NARS; score == 147; expect == 1.3e-35; MEOW:HUgn0004677 (28%) } # EOR GENR { RETE|ID 1 HUgn0001616 CHR 1 6 DID 1 LocusLink:1616 MAP 1 6p21.3 NAM 1 death-associated protein 6 ORG 1 Homo sapiens SYM 1 DAXX ID|HUgn0001616 DID|LocusLink:1616 ORG|Homo sapiens RSQ|REFSEQ:NM_001350 RPA|REFPROT:NP_001341 DBA|XM:NM_001350 |NA:Z97183 |NA:Z97184 |NA:AB015051 |NA:AF006041 |NA:AF015956 |NA:AF039136 |NA:AF050179 |NA:AF097742 |NA:BC000220 |NA:none PAC|XP:NP_001341 SYM|DAXX NAM|death-associated protein 6 SYN|DAP6 |BING2 FNC|death-associated protein 6 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=336916 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1616[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837233 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001350 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001350 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=336916 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27148 DBL|UNIGENE:Hs.336916 |OMIM:603186 |SNP:1616 MAP|6p21.3 HG|species == rat; score == 808; expect == 0.0; MEOW:ref|NP_543167.1| (71%) |species == Mouse; gene == Daxx; score == 763; expect == 0.0; MEOW:MGgn0003198 (69%) |species == Zfish; gene == daxx; score == 204; expect == 5.7e-54; MEOW:ZFgn0002025 (54%) } # EOR GENR { RETE|ID 1 HUgn0001617 CHR 1 Y DID 1 LocusLink:1617 MAP 1 Yq11 NAM 1 deleted in azoospermia ORG 1 Homo sapiens SYM 1 DAZ ID|HUgn0001617 DID|LocusLink:1617 ORG|Homo sapiens RSQ|REFSEQ:NM_004081 RPA|REFPROT:NP_004072 DBA|XM:NM_004081 |NA:AF271088 |NA:U21663 |NA:U66077 |NA:AF271087 PAC|XP:NP_004072 SYM|DAZ NAM|deleted in azoospermia SYN|DAZ1 |SPGY FNC|deleted in azoospermia |spermatogenesis ; GO:0007283 |fertilization (sensu Animalia) ; GO:0007338 REAB|This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal |azoospermia factor (AZF). Expression of the encoded protein is restricted to premeiotic |germ cells, particularly in spermatogonia. It is suggested that the encoded protein |may function in the first stages of spermatogenesis or in maintaining germ cell |populations. CHR|Y URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447836 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=522868 |http://www.gdb.org/gdb-bin/genera/accno?GDB:635890 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004081 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004081 |http://www.geneclinics.org/query?mim=400003 DBL|UNIGENE:Hs.447836 |UNIGENE:Hs.522868 |OMIM:400003 |SNP:1617 MAP|Yq11 ENZ|RNA binding ; GO:0003723 HG|species == Human; gene == DAZ4; score == 666; expect == 0.0; MEOW:HUgn0057135 (91%) |species == Human; gene == DAZ3; score == 612; expect == 1e-175; MEOW:HUgn0057054 (72%) |species == Human; gene == DAZ2; score == 596; expect == 1e-170; MEOW:HUgn0057055 (95%) |species == Mouse; gene == Dazl; score == 236; expect == 7.5e-63; MEOW:MGgn0003199 (77%) |species == chimp; score == 196; expect == 1.6e-51; MEOW:sp|O77654|O77654 (95%) |species == chimp; score == 173; expect == 1.1e-44; MEOW:sp|O77584|O77584 (88%) |species == Zfish; gene == dazl; score == 134; expect == 3.1e-32; MEOW:ZFgn0000890 (43%) } # EOR GENR { RETE|ID 1 HUgn0001618 CHR 1 3 DID 1 LocusLink:1618 MAP 1 3p24.3 NAM 1 deleted in azoospermia-like ORG 1 Homo sapiens SYM 1 DAZL ID|HUgn0001618 DID|LocusLink:1618 ORG|Homo sapiens RSQ|REFSEQ:NM_001351 RPA|REFPROT:NP_001342 DBA|XM:NM_001351 |NA:U77467 |NA:U77476 |NA:BC027595 |NA:BX648638 |NA:U65918 |NA:U66078 |NA:U66726 |NA:none PAC|XP:NP_001342 SYM|DAZL NAM|deleted in azoospermia-like SYN|DAZH |DAZL1 |DAZLA |SPGYLA |MGC26406 FNC|deleted in azoospermia-like |spermatogenesis ; GO:0007283 REAB|The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins |that are expressed in prenatal and postnatal germ cells of males and females. The |protein encoded by this gene is localized to the nucleus and cytoplasm of fetal |germ cells and to the cytoplasm of developing oocytes. In the testis, this protein |is localized to the nucleus of spermatogonia but relocates to the cytoplasm during |meiosis where it persists in spermatids and spermatozoa. Transposition and amplification |of this autosomal gene during primate evolution gave rise to the DAZ gene cluster |on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic |failure and infertility in males. CHR|3 PRD|deleted in azoospermia-like autosomal |germline specific RNA binding protein |spermatogenesis gene on the Y-like autosomal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73078 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1618[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885884 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001351 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001351 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73078 DBL|UNIGENE:Hs.73078 |OMIM:601486 |SNP:1618 MAP|3p24.3 PHP|Spermatogenic failure, susceptibility to ENZ|RNA binding ; GO:0003723 HG|species == Mouse; gene == Dazl; score == 528; expect == 9e-151; MEOW:MGgn0003199 (88%) |species == Human; gene == DAZ; score == 300; expect == 6.2e-82; MEOW:HUgn0001617 (82%) |species == Human; gene == DAZ3; score == 300; expect == 6.2e-82; MEOW:HUgn0057054 (82%) |species == Human; gene == DAZ2; score == 300; expect == 6.2e-82; MEOW:HUgn0057055 (82%) |species == Human; gene == DAZ4; score == 300; expect == 6.2e-82; MEOW:HUgn0057135 (82%) |species == chimp; score == 199; expect == 2.5e-52; MEOW:sp|O77584|O77584 (100%) |species == chimp; score == 176; expect == 2.0e-46; MEOW:sp|O77654|O77654 (85%) |species == Zfish; gene == dazl; score == 154; expect == 3.8e-38; MEOW:ZFgn0000890 (48%) } # EOR GENR { RETE|ID 1 HUgn0001620 CHR 1 9 DID 1 LocusLink:1620 MAP 1 9q32-q33 NAM 1 deleted in bladder cancer 1 ORG 1 Homo sapiens SYM 1 DBC1 ID|HUgn0001620 DID|LocusLink:1620 ORG|Homo sapiens RSQ|REFSEQ:NM_014618 RPA|REFPROT:NP_055433 DBA|XM:NM_014618 |NA:AF027734 |NA:BC021560 PAC|XP:NP_055433 SYM|DBC1 NAM|deleted in bladder cancer 1 SYN|FAM5A |DBCCR1 FNC|deleted in bladder cancer 1 REAB|This gene is located within a chromosomal region that shows loss of heterozygosity |in some bladder cancers. It contains a 5' CpG island that may be a frequent target |of hypermethylation, and it may undergo hypermethylation-based silencing in some |bladder cancers. CHR|9 PRD|deleted in bladder cancer chromosome region candidate 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6090 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1620[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837387 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014618 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014618 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=6090 DBL|UNIGENE:Hs.6090 |OMIM:602865 |SNP:1620 MAP|9q32-q33 } # EOR GENR { RETE|ID 1 HUgn0001621 CHR 1 9 DID 1 LocusLink:1621 MAP 1 9q34 NAM 1 dopamine beta-hydroxylase (dopamine beta-monooxygenase) ORG 1 Homo sapiens SYM 1 DBH ID|HUgn0001621 DID|LocusLink:1621 ORG|Homo sapiens RSQ|REFSEQ:NM_000787 RPA|REFPROT:NP_000778 DBA|XM:NM_000787 |NA:AC000404 |NA:AC001227 |NA:X13257 |NA:X13258 |NA:X13259 |NA:X13260 |NA:X13261 |NA:X13262 |NA:X13263 |NA:X13264 |NA:X13266 |NA:X13267 |NA:X13268 |NA:X14357 |NA:BC017174 |NA:X13255 |NA:X13256 |NA:Y00096 |NA:none PAC|XP:NP_000778 SYM|DBH NAM|dopamine beta-hydroxylase (dopamine beta-monooxygenase) FNC|dopamine beta-hydroxylase precursor REAB|The protein encoded by this gene is an oxidoreductase belonging to the copper type |II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles |of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It |exists in both soluble and membrane-bound forms, depending on the absence or presence, |respectively, of a signal peptide. CHR|9 PRD|dopamine beta-monooxygenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=223858 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1621[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119836 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000787 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000787 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=223858 |http://www.geneclinics.org/query?mim=223360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 DBL|UNIGENE:Hs.223858 |OMIM:223360 |SNP:1621 ENZ|EC:1.14.17.1 MAP|9q34 PHP|Dopamine-beta-hydroxylase activity levels, plasma HG|species == Mouse; gene == Dbh; score == 983; expect == 0.0; MEOW:MGgn0003201 (79%) |species == rat; score == 963; expect == 0.0; MEOW:ref|NP_037290.1| (77%) |species == Mosquito; score == 386; expect == 1e-107; MEOW:AGgn0002885 (40%) |species == Fruitfly; gene == Tbh; score == 366; expect == 1e-101; MEOW:FBgn0010329 (40%) |species == Human; gene == MOXD1; score == 268; expect == 5.0e-72; MEOW:HUgn0026002 (32%) |species == Zfish; gene == dbh; score == 210; expect == 8.2e-56; MEOW:ZFgn0000548 (60%) } # EOR GENR { RETE|ID 1 HUgn0001622 CHR 1 2 DID 1 LocusLink:1622 MAP 1 2q12-q21 NAM 1 diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) ORG 1 Homo sapiens SYM 1 DBI ID|HUgn0001622 DID|LocusLink:1622 ORG|Homo sapiens RSQ|REFSEQ:NM_020548 RPA|REFPROT:NP_065438 DBA|XM:NM_020548 |NA:L76366 |NA:BC006466 |NA:M14200 |NA:M15887 |NA:none PAC|XP:NP_065438 SYM|DBI NAM|diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) SYN|ACBP |ACBD1 FNC|diazepam binding inhibitor |transport ; GO:0006810 CHR|2 PRD|endozepine |GABA receptor modulator |acyl coenzyme A binding protein |acyl-Coenzyme A binding domain containing 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78888 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1622[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119837 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020548 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020548 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78888 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27158 DBL|UNIGENE:Hs.78888 |OMIM:125950 |SNP:1622 MAP|2q12-q21 ENZ|acyl-CoA binding ; GO:0000062 |diazepam-binding inhibitor activity ; GO:0008025 |lipid binding ; GO:0008289 |receptor binding ; GO:0005102 HG|species == Mouse; gene == Dbi; score == 147; expect == 5.6e-37; MEOW:MGgn0003202 (75%) |species == rat; score == 147; expect == 6.7e-37; MEOW:ref|NP_114054.1| (75%) |species == rat; score == 128; expect == 5.4e-31; MEOW:ref|XP_237195.1| (68%) } # EOR GENR { RETE|ID 1 HUgn0001623 CHR 1 5 DID 1 LocusLink:1623 MAP 1 5 NAM 1 diazepam binding inhibitor-like 1 ORG 1 Homo sapiens SYM 1 DBIL1 ID|HUgn0001623 DID|LocusLink:1623 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC008434 SYM|DBIL1 NAM|diazepam binding inhibitor-like 1 CHR|5 MAP|5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127912 } # EOR GENR { RETE|ID 1 HUgn0001624 CHR 1 6 DID 1 LocusLink:1624 MAP 1 6q14.3 NAM 1 diazepam binding inhibitor-like 2 (pseudogene) ORG 1 Homo sapiens SYM 1 DBIL2 ID|HUgn0001624 DID|LocusLink:1624 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L27274 SYM|DBIL2 NAM|diazepam binding inhibitor-like 2 (pseudogene) SYN|DBIP1 CHR|6 PRD|diazepam binding inhibitor-like 2 (a pseudogene) MAP|6q14.3 DBL|SNP:1624 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127913 } # EOR GENR { RETE|ID 1 HUgn0001625 CHR 1 11 DID 1 LocusLink:1625 MAP 1 11 NAM 1 diazepam binding inhibitor-like 3 ORG 1 Homo sapiens SYM 1 DBIL3 ID|HUgn0001625 DID|LocusLink:1625 ORG|Homo sapiens SYM|DBIL3 NAM|diazepam binding inhibitor-like 3 CHR|11 MAP|11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127914 } # EOR GENR { RETE|ID 1 HUgn0001626 CHR 1 14 DID 1 LocusLink:1626 MAP 1 14 NAM 1 diazepam binding inhibitor-like 4 ORG 1 Homo sapiens SYM 1 DBIL4 ID|HUgn0001626 DID|LocusLink:1626 ORG|Homo sapiens SYM|DBIL4 NAM|diazepam binding inhibitor-like 4 CHR|14 MAP|14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127915 } # EOR GENR { RETE|ID 1 HUgn0001627 CHR 1 5 DID 1 LocusLink:1627 MAP 1 5q35.3 NAM 1 drebrin 1 ORG 1 Homo sapiens SYM 1 DBN1 ID|HUgn0001627 DID|LocusLink:1627 ORG|Homo sapiens RSQ|REFSEQ:NM_004395 |REFSEQ:NM_080881 RPA|REFPROT:NP_004386 |REFPROT:NP_543157 DBA|XM:NM_004395 |XM:NM_080881 |NA:AI683844 |NA:AK094125 |NA:AL110225 |NA:AW950551 |NA:BC000283 |NA:BC007281 |NA:BC007567 |NA:BF205663 |NA:D17530 |NA:U00802 PAC|XP:NP_004386 |XP:NP_543157 SYM|DBN1 NAM|drebrin 1 SYN|D0S117E |DKFZp434D064 FNC|drebrin 1 isoform a |drebrin 1 isoform b REAB|The protein encoded by this gene is a cytoplasmic actin-binding protein thought to |play a role in the process of neuronal growth. It is a member of the drebrin family |of proteins that are developmentally regulated in the brain. A decrease in the amount |of this protein in the brain has been implicated as a possible contributing factor |in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative |splice variants encoding different protein isoforms have been described for this |gene. CHR|5 PRD|drebrin E |drebrin-1 |drebrin E2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89434 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1627[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:215633 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080881 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080881 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89434 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27163 DBL|UNIGENE:Hs.89434 |OMIM:126660 |SNP:1627 MAP|5q35.3 ENZ|actin binding ; GO:0003779 CEL|actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Dbn1; score == 795; expect == 0.0; MEOW:MGgn0028510 (84%) |species == rat; score == 773; expect == 0.0; MEOW:ref|NP_112286.1| (80%) |species == Human; gene == HIP-55; score == 157; expect == 1.8e-38; MEOW:HUgn0028988 (43%) } # EOR GENR { RETE|ID 1 HUgn0001628 CHR 1 19 DID 1 LocusLink:1628 MAP 1 19q13.3 NAM 1 D site of albumin promoter (albumin D-box) binding protein ORG 1 Homo sapiens SYM 1 DBP ID|HUgn0001628 DID|LocusLink:1628 ORG|Homo sapiens RSQ|REFSEQ:NM_001352 RPA|REFPROT:NP_001343 DBA|XM:NM_001352 |NA:U48213 |NA:BC011965 |NA:BT006836 |NA:U06936 |NA:U79283 |NA:none PAC|XP:NP_001343 SYM|DBP NAM|D site of albumin promoter (albumin D-box) binding protein SYN|DABP FNC|D site of albumin promoter (albumin D-box) binding protein |regulation of transcription from Pol II promoter ; GO:0006357 |rhythmic behavior ; GO:0007622 CHR|19 PRD|D site of albumin promoter binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414480 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1628[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128840 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001352 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001352 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=414480 DBL|UNIGENE:Hs.414480 |OMIM:124097 |SNP:1628 MAP|19q13.3 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Zfish; gene == tef; score == 216; expect == 9.3e-57; MEOW:ZFgn0000241 (48%) |species == Mouse; gene == Tef; score == 211; expect == 5.1e-55; MEOW:MGgn0012156 (50%) |species == Human; gene == TEF; score == 210; expect == 8.8e-55; MEOW:HUgn0007008 (49%) |species == rat; score == 210; expect == 7.1e-55; MEOW:ref|NP_062067.1| (49%) |species == Human; gene == HLF; score == 205; expect == 2.7e-53; MEOW:HUgn0003131 (53%) |species == Mouse; gene == Hlf; score == 204; expect == 6.1e-53; MEOW:MGgn0005431 (53%) |species == Fruitfly; gene == Pdp1; score == 142; expect == 1.9e-34; MEOW:FBgn0016694 (53%) |species == Mosquito; score == 137; expect == 3.4e-33; MEOW:AGgn0013001 (53%) } # EOR GENR { RETE|ID 1 HUgn0001629 CHR 1 1 DID 1 LocusLink:1629 MAP 1 1p31 NAM 1 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) ORG 1 Homo sapiens SYM 1 DBT ID|HUgn0001629 DID|LocusLink:1629 ORG|Homo sapiens RSQ|REFSEQ:NM_001918 RPA|REFPROT:NP_001909 DBA|XM:NM_001918 |NA:BC016675 |NA:BC030002 |NA:BT007372 |NA:J03208 |NA:M19301 |NA:M27093 |NA:X66785 |NA:none PAC|XP:NP_001909 SYM|DBT NAM|dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) SYN|MSUD2 |BCATE2 FNC|dihydrolipoamide branched chain transacylase |metabolism ; GO:0008152 CHR|1 PRD|E2 component of branched chain keto acid dehydrogenase complex URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=139410 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1629[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118784 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001918 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001918 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=139410 |http://www.geneclinics.org/query?mim=248610 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00530 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00642 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00540 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00472 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.139410 |OMIM:248610 |SNP:1629 ENZ|EC:2.3.1.- |acyltransferase activity ; GO:0008415 |protein binding ; GO:0005515 |transferase activity ; GO:0016740 MAP|1p31 PHP|Maple syrup urine disease, type II CEL|alpha-ketoglutarate dehydrogenase complex (sensu Eukarya) ; GO:0005947 |mitochondrion ; GO:0005739 HG|species == rat; score == 817; expect == 0.0; MEOW:ref|XP_342329.1| (87%) |species == Mouse; gene == Dbt; score == 816; expect == 0.0; MEOW:MGgn0003206 (87%) |species == Worm; gene == ZK669.4; score == 444; expect == 6e-125; MEOW:CEgn0021116 (54%) |species == Mosquito; gene == LOC23896; score == 424; expect == 3e-119; MEOW:AGgn0023896 (53%) |species == Fruitfly; gene == CG5599; score == 410; expect == 5e-115; MEOW:FBgn0030612 (49%) |species == Weed; gene == At3g06850; score == 323; expect == 1.7e-88; MEOW:ATgn0016891 (41%) |species == rice; score == 312; expect == 2.7e-85; MEOW:gnl|TIGR|8350.m01920 (40%) |species == ecoli; score == 154; expect == 9.5e-39; MEOW:ref|NP_415255.1| (26%) |species == Human; gene == DLAT; score == 149; expect == 4.4e-36; MEOW:HUgn0001737 (28%) |species == Human; gene == PDHX; score == 141; expect == 7.1e-34; MEOW:HUgn0008050 (26%) } # EOR GENR { RETE|ID 1 HUgn0001630 CHR 1 18 DID 1 LocusLink:1630 MAP 1 18q21.3 NAM 1 deleted in colorectal carcinoma ORG 1 Homo sapiens SYM 1 DCC ID|HUgn0001630 DID|LocusLink:1630 ORG|Homo sapiens RSQ|REFSEQ:NM_005215 RPA|REFPROT:NP_005206 DBA|XM:NM_005215 |NA:M32292 |NA:X76132 |NA:none PAC|XP:NP_005206 SYM|DCC NAM|deleted in colorectal carcinoma SYN|CRC18 |CRCR1 FNC|deleted in colorectal carcinoma |axonogenesis ; GO:0007409 |induction of apoptosis ; GO:0006917 |negative regulation of cell cycle ; GO:0045786 CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154597 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1630[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119838 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005215 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005215 DBL|UNIGENE:Hs.154597 |OMIM:120470 |SNP:1630 MAP|18q21.3 PHP|Colorectal cancer ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Dcc; score == 2707; expect == 0.0; MEOW:MGgn0003212 (96%) |species == rat; score == 2695; expect == 0.0; MEOW:ref|NP_036973.1| (96%) |species == Human; gene == NEO1; score == 1338; expect == 0.0; MEOW:HUgn0004756 (51%) |species == Zfish; gene == neo1; score == 1303; expect == 0.0; MEOW:ZFgn0003852 (48%) |species == Mosquito; score == 661; expect == 0.0; MEOW:AGgn0028472 (35%) |species == Fruitfly; gene == fra; score == 615; expect == 3e-176; MEOW:FBgn0011592 (35%) |species == Worm; gene == unc-40; score == 548; expect == 6e-156; MEOW:CEgn0002927 (34%) |species == chimp; score == 213; expect == 8.4e-57; MEOW:sp|BAC81123|BAC81123 (26%) } # EOR GENR { RETE|ID 1 HUgn0001631 CHR 1 20 DID 1 LocusLink:1631 MAP 1 20 NAM 1 desmosterol-to-cholesterol enzyme ORG 1 Homo sapiens SYM 1 DCE ID|HUgn0001631 DID|LocusLink:1631 ORG|Homo sapiens SYM|DCE NAM|desmosterol-to-cholesterol enzyme CHR|20 DBL|OMIM:125650 MAP|20 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119089 } # EOR GENR { RETE|ID 1 HUgn0001632 CHR 1 16 DID 1 LocusLink:1632 MAP 1 16p13.3 NAM 1 dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) ORG 1 Homo sapiens SYM 1 DCI ID|HUgn0001632 DID|LocusLink:1632 ORG|Homo sapiens RSQ|REFSEQ:NM_001919 RPA|REFPROT:NP_001910 DBA|XM:NM_001919 |NA:Z25821 |NA:Z25822 |NA:Z25823 |NA:Z25824 |NA:BC000762 |NA:BC002746 |NA:BC009631 |NA:BC019316 |NA:BC020228 |NA:Z25820 |NA:none PAC|XP:NP_001910 SYM|DCI NAM|dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) FNC|dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) |fatty acid metabolism ; GO:0006631 |metabolism ; GO:0008152 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=403436 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1632[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:291240 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001919 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001919 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=403436 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.403436 |OMIM:600305 |SNP:1632 ENZ|EC:5.3.3.8 |dodecenoyl-CoA delta-isomerase activity ; GO:0004165 |isomerase activity ; GO:0016853 MAP|16p13.3 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 426; expect == 1e-119; MEOW:ref|NP_059002.1| (75%) |species == Mouse; gene == Dci; score == 407; expect == 3e-114; MEOW:MGgn0003213 (74%) |species == Mosquito; score == 201; expect == 2.3e-52; MEOW:AGgn0028309 (41%) |species == Fruitfly; gene == CG4598; score == 193; expect == 8.5e-50; MEOW:FBgn0032160 (38%) |species == Fruitfly; gene == CG4594; score == 179; expect == 1.1e-45; MEOW:FBgn0032161 (39%) } # EOR GENR { RETE|ID 1 HUgn0001633 CHR 1 4 DID 1 LocusLink:1633 MAP 1 4q13.3-q21.1 NAM 1 deoxycytidine kinase ORG 1 Homo sapiens SYM 1 DCK ID|HUgn0001633 DID|LocusLink:1633 ORG|Homo sapiens RSQ|REFSEQ:NM_000788 RPA|REFPROT:NP_000779 DBA|XM:NM_000788 |NA:L07485 |NA:M60527 |NA:none PAC|XP:NP_000779 SYM|DCK NAM|deoxycytidine kinase FNC|deoxycytidine kinase |pyrimidine nucleotide metabolism ; GO:0006220 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 REAB|Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides |and their nucleoside analogs. Deficiency of DCK is associated with resistance to |antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine |kinase activity is associated with increased activation of these compounds to cytotoxic |nucleoside triphosphate derivatives. DCK is clinically important because of its |relationship to drug resistance and sensitivity. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=709 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1633[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126810 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000788 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000788 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.709 |OMIM:125450 |SNP:1633 ENZ|EC:2.7.1.74 |deoxycytidine kinase activity ; GO:0004137 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 |phosphotransferase activity, alcohol group as acceptor ; GO:0016773 MAP|4q13.3-q21.1 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dck; score == 504; expect == 1e-143; MEOW:MGgn0003214 (93%) |species == rat; score == 494; expect == 2e-140; MEOW:ref|NP_077072.1| (91%) |species == Weed; gene == At1g72040; score == 140; expect == 2.0e-33; MEOW:ATgn0004117 (41%) |species == Human; gene == TK2; score == 140; expect == 9.0e-34; MEOW:HUgn0007084 (34%) |species == rice; score == 138; expect == 5.6e-33; MEOW:gnl|TIGR|8350.m06149 (40%) |species == Fruitfly; gene == dnk; score == 134; expect == 2.9e-32; MEOW:FBgn0022338 (31%) } # EOR GENR { RETE|ID 1 HUgn0001634 CHR 1 12 DID 1 LocusLink:1634 MAP 1 12q13.2 NAM 1 decorin ORG 1 Homo sapiens SYM 1 DCN ID|HUgn0001634 DID|LocusLink:1634 ORG|Homo sapiens RSQ|REFSEQ:NM_001920 |REFSEQ:NM_133503 |REFSEQ:NM_133504 |REFSEQ:NM_133505 |REFSEQ:NM_133506 |REFSEQ:NM_133507 RPA|REFPROT:NP_001911 |REFPROT:NP_598010 |REFPROT:NP_598011 |REFPROT:NP_598012 |REFPROT:NP_598013 |REFPROT:NP_598014 DBA|XM:NM_001920 |XM:NM_133503 |XM:NM_133504 |XM:NM_133505 |XM:NM_133506 |XM:NM_133507 |NA:L01131 |NA:M98262 |NA:M98263 |NA:AF138300 |NA:AF138301 |NA:AF138302 |NA:AF138303 |NA:AF138304 |NA:BC005322 |NA:BX571756 |NA:none PAC|XP:NP_001911 |XP:NP_598010 |XP:NP_598011 |XP:NP_598012 |XP:NP_598013 |XP:NP_598014 SYM|DCN NAM|decorin SYN|PG40 |PGII |PGS2 |DSPG2 |SLRR1B FNC|decorin isoform a preproprotein |decorin isoform b precursor |decorin isoform c precursor |decorin isoform d precursor |decorin isoform e precursor |histogenesis and organogenesis ; GO:0007397 REAB|The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan |that is closely related in structure to biglycan protein. The encoded protein and |biglycan are thought to be the result of a gene duplication. This protein is a component |of connective tissue, binds to type I collagen fibrils, and plays a role in matrix |assembly. It contains one attached glycosaminoglycan chain. This protein is capable |of suppressing the growth of various tumor cell lines. There are multiple alternatively |spliced transcript variants known for this gene. Also multiple polyadenylation sites |have been found for this gene. This gene is a candidate gene for Marfan syndrome. CHR|12 PRD|bone proteoglycan II |proteoglycan core protein |small leucine-rich protein 1B |dermatan sulphate proteoglycans II URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=156316 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1634[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119839 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001920 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001920 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=156316 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27177 DBL|UNIGENE:Hs.156316 |OMIM:125255 |SNP:1634 MAP|12q13.2 CEL|extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Dcn; score == 584; expect == 2e-167; MEOW:MGgn0003215 (80%) |species == rat; score == 538; expect == 1e-153; MEOW:ref|XP_343202.1| (77%) |species == Human; gene == BGN; score == 397; expect == 5e-111; MEOW:HUgn0000633 (55%) |species == Human; gene == ASPN; score == 367; expect == 6e-102; MEOW:HUgn0054829 (55%) |species == Zfish; gene == dcn; score == 280; expect == 4.4e-76; MEOW:ZFgn0002008 (68%) } # EOR GENR { RETE|ID 1 HUgn0001635 CHR 1 4 DID 1 LocusLink:1635 MAP 1 4q35.1 NAM 1 dCMP deaminase ORG 1 Homo sapiens SYM 1 DCTD ID|HUgn0001635 DID|LocusLink:1635 ORG|Homo sapiens RSQ|REFSEQ:NM_001921 RPA|REFPROT:NP_001912 DBA|XM:NM_001921 |NA:L39874 |NA:BC001286 |NA:L12136 |NA:none PAC|XP:NP_001912 SYM|DCTD NAM|dCMP deaminase FNC|dCMP deaminase |pyrimidine nucleotide metabolism ; GO:0006220 |nucleotide biosynthesis ; GO:0009165 REAB|Deoxycytidylate deaminase (DCTD; EC 3.5.4.12) catalyzes the deamination of dCMP to |dUMP, thus providing the nucleotide substrate for thymidylate synthase (MIM 188350). |DCTD is allosterically activated by dCTP and inhibited by dTTP.[supplied by OMIM] CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76894 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1635[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:204019 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001921 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001921 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76894 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03090 DBL|UNIGENE:Hs.76894 |OMIM:607638 |SNP:1635 ENZ|EC:3.5.4.12 |dCMP deaminase activity ; GO:0004132 |zinc ion binding ; GO:0008270 |hydrolase activity ; GO:0016787 MAP|4q35.1 HG|species == Mouse; gene == Dctd; score == 341; expect == 1.1e-94; MEOW:MGgn0043629 (91%) |species == rat; score == 250; expect == 3.1e-67; MEOW:ref|XP_214348.1| (95%) |species == Mosquito; score == 223; expect == 1.9e-59; MEOW:AGgn0006842 (62%) |species == Fruitfly; gene == CG6951; score == 183; expect == 2.3e-47; MEOW:FBgn0036959 (51%) } # EOR GENR { RETE|ID 1 HUgn0001636 CHR 1 17 DID 1 LocusLink:1636 MAP 1 17q23 NAM 1 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ORG 1 Homo sapiens SYM 1 ACE ID|HUgn0001636 DID|LocusLink:1636 ORG|Homo sapiens RSQ|REFSEQ:NM_000789 |REFSEQ:NM_152830 |REFSEQ:NM_152831 RPA|REFPROT:NP_000780 |REFPROT:NP_690043 |REFPROT:NP_690044 DBA|XM:NM_000789 |XM:NM_152830 |XM:NM_152831 |NA:AF118569 |NA:AF229986 |NA:BC036375 |NA:BM908180 |NA:J04144 |NA:M26657 |NA:M29981 |NA:S81361 |NA:X16295 PAC|XP:NP_000780 |XP:NP_690043 |XP:NP_690044 SYM|ACE NAM|angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 SYN|DCP |ACE1 |DCP1 |CD143 |MGC26566 FNC|angiotensin I converting enzyme isoform 1 precursor |angiotensin I converting enzyme isoform 2 precursor |angiotensin I converting enzyme isoform 3 precursor |regulation of blood pressure ; GO:0008217 |circulation ; GO:0008015 REAB|This gene encodes an enzyme involved in catalyzing the conversion of angiotensin |I into a physiologically active peptide angiotensin II. Angiotensin II is a potent |vasopressor and aldosterone-stimulating peptide that controls blood pressure and |fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin |system. Many studies have associated the presence or absence of a 287 bp Alu repeat |element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. |Two most abundant alternatively spliced variants of this gene encode two isozymes |- the somatic form and the testicular form that are equally active. Multiple additional |alternatively spliced variants have been identified but their full length nature |has not been determined. CHR|17 PRD|kininase II |peptidase P |CD143 antigen |carboxycathepsin |peptidyl-dipeptidase A |dipeptidyl carboxypeptidase 1 |angiotensin converting enzyme, somatic isoform URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298469 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1636[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119840 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_152831 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_152831 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=298469 |http://www.geneclinics.org/query?mim=106180 |http://www.ncbi.nlm.nih.gov/disease/Alzheimer.html |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA139 DBL|UNIGENE:Hs.298469 |OMIM:106180 |SNP:1636 |PROW:2117513808 |UWCM:119840.html ENZ|EC:3.4.15.1 |peptidyl-dipeptidase activity ; GO:0008241 MAP|17q23 PHP|Alzheimer disease, susceptibility to |Myocardial infarction, susceptibility to CEL|soluble fraction ; GO:0005625 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == chimp; score == 2565; expect == 0.0; MEOW:sp|Q9GLN7|Q9GLN7 (99%) |species == rat; score == 2301; expect == 0.0; MEOW:ref|NP_036676.1| (84%) |species == Mouse; gene == Ace; score == 2280; expect == 0.0; MEOW:MGgn0000053 (83%) |species == Mosquito; gene == LOC11721; score == 857; expect == 0.0; MEOW:AGgn0011721 (42%) |species == Fruitfly; gene == Ance; score == 533; expect == 2e-151; MEOW:FBgn0012037 (44%) |species == Human; gene == ACE2; score == 513; expect == 2e-145; MEOW:HUgn0059272 (41%) |species == Fruitfly; gene == Ance-3; score == 484; expect == 8e-137; MEOW:FBgn0032536 (39%) |species == Fruitfly; gene == Acer; score == 482; expect == 3e-136; MEOW:FBgn0016122 (40%) } # EOR GENR { RETE|ID 1 HUgn0001637 CHR 1 21 DID 1 LocusLink:1637 MAP 1 21q22.3 NAM 1 Down syndrome chromosome region ORG 1 Homo sapiens SYM 1 DCR ID|HUgn0001637 DID|LocusLink:1637 ORG|Homo sapiens SYM|DCR NAM|Down syndrome chromosome region SYN|DSCR REAB|A number sign (#) is used with this entry because it concerns a chromosomal aberration |and many genes are involved in the phenotype. Down syndrome, the most frequent form |of mental retardation caused by a microscopically demonstrable chromosomal aberration, |is characterized by well-defined and distinctive phenotypic features and natural |history. It is caused by triplicate state (trisomy) of all or a critical portion |of chromosome 21.[supplied by OMIM] CHR|21 DBL|OMIM:190685 MAP|21q22.3 PHP|Down syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125354 |http://www.geneclinics.org/query?mim=190685 } # EOR GENR { RETE|ID 1 HUgn0001638 CHR 1 13 DID 1 LocusLink:1638 MAP 1 13q32 NAM 1 dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) ORG 1 Homo sapiens SYM 1 DCT ID|HUgn0001638 DID|LocusLink:1638 ORG|Homo sapiens RSQ|REFSEQ:NM_001922 RPA|REFPROT:NP_001913 DBA|XM:NM_001922 |NA:AJ000503 |NA:AJ132932 |NA:BC028311 |NA:D17547 |NA:L18967 |NA:S69231 |NA:none PAC|XP:NP_001913 SYM|DCT NAM|dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) SYN|TYRP2 FNC|dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) |epidermal differentiation ; GO:0008544 |melanin biosynthesis from tyrosine ; GO:0006583 |metabolism ; GO:0008152 CHR|13 PRD|Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related protein 2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=301865 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1638[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:231628 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001922 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001922 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=301865 DBL|UNIGENE:Hs.301865 |OMIM:191275 |SNP:1638 ENZ|EC:5.3.3.12 |dopachrome isomerase activity ; GO:0004167 |copper ion binding ; GO:0005507 |oxidoreductase activity ; GO:0016491 |isomerase activity ; GO:0016853 MAP|13q32 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dct; score == 911; expect == 0.0; MEOW:MGgn0003226 (83%) |species == Zfish; gene == dct; score == 703; expect == 0.0; MEOW:ZFgn0000847 (63%) |species == rat; score == 570; expect == 5e-163; MEOW:ref|XP_224517.2| (87%) |species == Human; gene == TYRP1; score == 510; expect == 1e-144; MEOW:HUgn0007306 (52%) |species == rat; score == 500; expect == 7e-142; MEOW:ref|XP_238398.2| (48%) |species == chimp; score == 334; expect == 1.9e-93; MEOW:sp|Q9GLV0|Q9GLV0 (41%) } # EOR GENR { RETE|ID 1 HUgn0001639 CHR 1 2 DID 1 LocusLink:1639 MAP 1 2p13 NAM 1 dynactin 1 (p150, glued homolog, Drosophila) ORG 1 Homo sapiens SYM 1 DCTN1 ID|HUgn0001639 DID|LocusLink:1639 ORG|Homo sapiens RSQ|REFSEQ:NM_004082 |REFSEQ:NM_023019 RPA|REFPROT:NP_004073 |REFPROT:NP_075408 DBA|XM:NM_004082 |XM:NM_023019 |NA:AF064203 |NA:AF064204 |NA:AF064205 |NA:AF086947 |NA:AK055298 |NA:BC006163 |NA:BX640799 |NA:BX647925 |NA:BX647972 |NA:U73799 |NA:U90445 |NA:X98801 |NA:none PAC|XP:NP_004073 |XP:NP_075408 SYM|DCTN1 NAM|dynactin 1 (p150, glued homolog, Drosophila) SYN|P135 |DP-150 |DAP-150 FNC|dynactin 1 isoform 1 |dynactin 1 isoform 2 |mitosis ; GO:0007067 |neurogenesis ; GO:0007399 REAB|This gene encodes the largest subunit of dynactin, a macromolecular complex consisting |of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules |and cytoplasmic dynein. It is involved in a diverse array of cellular functions, |including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, |spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This |subunit interacts with dynein intermediate chain by its domains directly binding |to dynein. Alternative splicing of this gene results in at least 2 functionally |distinct isoforms: a ubiquitously expressed one and a brain-specific one. Based |on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle |muscular dystrophy. CHR|2 PRD|p150-glued |p150, Glued (Drosophila) homolog |150 kDa dynein-associated polypeptide |dynactin 1 (p150, Glued (Drosophila) homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74617 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1639[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642146 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004082 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004082 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74617 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 DBL|UNIGENE:Hs.74617 |OMIM:601143 |SNP:1639 MAP|2p13 PHP|Lower motor neuron disease, progressive, without sensory symptoms ENZ|motor activity ; GO:0003774 CEL|cytoskeleton ; GO:0005856 |dynein complex ; GO:0030286 HG|species == Mouse; gene == Dctn1; score == 2082; expect == 0.0; MEOW:MGgn0003227 (96%) |species == rat; score == 2075; expect == 0.0; MEOW:ref|NP_077044.1| (95%) |species == Mosquito; score == 569; expect == 3e-162; MEOW:AGgn0012820 (34%) |species == Fruitfly; gene == Gl; score == 562; expect == 5e-160; MEOW:FBgn0001108 (33%) |species == Worm; gene == dnc-1; score == 400; expect == 3e-111; MEOW:CEgn0000407 (28%) } # EOR GENR { RETE|ID 1 HUgn0001641 CHR 1 X DID 1 LocusLink:1641 MAP 1 Xq22.3-q23 NAM 1 doublecortex; lissencephaly, X-linked (doublecortin) ORG 1 Homo sapiens SYM 1 DCX ID|HUgn0001641 DID|LocusLink:1641 ORG|Homo sapiens RSQ|REFSEQ:NM_000555 |REFSEQ:NM_178151 |REFSEQ:NM_178152 |REFSEQ:NM_178153 RPA|REFPROT:NP_000546 |REFPROT:NP_835364 |REFPROT:NP_835365 |REFPROT:NP_835366 DBA|XM:NM_000555 |XM:NM_178151 |XM:NM_178152 |XM:NM_178153 |NA:AJ005591 |NA:AJ005592 |NA:AF034634 |NA:AF040254 |NA:AF040255 |NA:AJ003112 |NA:AK002120 |NA:BC027925 |NA:none PAC|XP:NP_000546 |XP:NP_835364 |XP:NP_835365 |XP:NP_835366 SYM|DCX NAM|doublecortex; lissencephaly, X-linked (doublecortin) SYN|DC |DBCN |LISX |SCLH |XLIS FNC|doublecortin isoform a |doublecortin isoform b |doublecortin isoform c |central nervous system development ; GO:0007417 |intracellular signaling cascade ; GO:0007242 REAB|In the developing cortex, cortical neurons must migrate over long distances to reach |the site of their final differentiation. The protein encoded by this gene is a cytoplasmic |protein which appears to direct neuronal migration by regulating the organization |and stability of microtubules. The encoded protein contains two doublecortin domains, |which bind microtubules. In addition, the encoded protein interacts with LIS1, the |regulatory gamma subunit of platelet activating factor acetylhydrolase, and this |interaction is important to proper microtubule function in the developing cortex. |Mutations in this gene are a cause of X-linked lissencephaly. Multiple transcript |variants encoding at least three different isoforms have been found for this gene. CHR|X PRD|doublin |lissencephalin-X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=34780 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1641[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9823272 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000555 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000555 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=34780 |http://www.geneclinics.org/query?mim=300121 DBL|UNIGENE:Hs.34780 |OMIM:300121 |SNP:1641 |UWCM:9823272.html MAP|Xq22.3-q23 PHP|Lissencephaly, X-linked |Subcortical laminal heteropia, X-linked ENZ|microtubule binding ; GO:0008017 CEL|microtubule associated complex ; GO:0005875 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Dcx; score == 675; expect == 0.0; MEOW:MGgn0003229 (97%) |species == rat; score == 674; expect == 0.0; MEOW:ref|NP_445831.2| (97%) |species == Human; gene == DCAMKL1; score == 508; expect == 3e-144; MEOW:HUgn0009201 (73%) |species == Human; gene == MGC45428; score == 473; expect == 1e-133; MEOW:HUgn0166614 (69%) |species == Mosquito; gene == LOC19521; score == 180; expect == 9.0e-46; MEOW:AGgn0019521 (37%) } # EOR GENR { RETE|ID 1 HUgn0001642 CHR 1 11 DID 1 LocusLink:1642 MAP 1 11q12-q13 NAM 1 damage-specific DNA binding protein 1, 127kDa ORG 1 Homo sapiens SYM 1 DDB1 ID|HUgn0001642 DID|LocusLink:1642 ORG|Homo sapiens RSQ|REFSEQ:NM_001923 RPA|REFPROT:NP_001914 DBA|XM:NM_001923 |NA:AJ002955 |NA:AL831958 |NA:BC011686 |NA:BC021044 |NA:BC032080 |NA:BC050530 |NA:BC051764 |NA:L40326 |NA:U18299 |NA:U32986 |NA:none PAC|XP:NP_001914 SYM|DDB1 NAM|damage-specific DNA binding protein 1, 127kDa SYN|DDBA |XAP1 |XPCE |XPE-BF |UV-DDB1 FNC|damage-specific DNA binding protein 1 |pyrimidine-dimer repair, DNA damage excision ; GO:0006291 |DNA repair ; GO:0006281 REAB|This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer |composed of a large and a small subunit. This protein functions in nucleotide-excision |repair. Its defective activity causes the repair defect in the patients with xeroderma |pigmentosum complementation group E (XPE). However, it remains for mutation analysis |to demonstrate whether the defect in XPE patients is in this gene or the gene encoding |the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to |the same region as this gene on 11q, but no sequence alternations of this gene are |demonstrated in Best disease patients. CHR|11 PRD|DDB p127 subunit |damage-specific DNA binding protein 1 (127kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=290758 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1642[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595014 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001923 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001923 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=290758 DBL|UNIGENE:Hs.290758 |OMIM:600045 |SNP:1642 MAP|11q12-q13 PHP|Xeroderma pigmentosum, group E, subtype 2 ENZ|damaged DNA binding ; GO:0003684 CEL|nucleus ; GO:0005634 HG|species == rat; score == 2220; expect == 0.0; MEOW:ref|XP_342025.1| (99%) |species == Mouse; gene == Ddb1; score == 2218; expect == 0.0; MEOW:MGgn0003230 (99%) |species == Mosquito; score == 1528; expect == 0.0; MEOW:AGgn0003051 (65%) |species == Mosquito; score == 1484; expect == 0.0; MEOW:AGgn0029187 (63%) |species == Fruitfly; gene == DDB1; score == 1356; expect == 0.0; MEOW:FBgn0027049 (60%) |species == Weed; gene == At4g05420; score == 1157; expect == 0.0; MEOW:ATgn0017869 (52%) |species == Weed; gene == At4g21100; score == 1131; expect == 0.0; MEOW:ATgn0018442 (51%) |species == rice; score == 1071; expect == 0.0; MEOW:gnl|TIGR|8353.m04609 (50%) |species == Worm; gene == M18.5; score == 764; expect == 0.0; MEOW:CEgn0014136 (36%) |species == Human; gene == SF3B3; score == 205; expect == 1.1e-52; MEOW:HUgn0023450 (23%) } # EOR GENR { RETE|ID 1 HUgn0001643 CHR 1 11 DID 1 LocusLink:1643 MAP 1 11p12-p11 NAM 1 damage-specific DNA binding protein 2, 48kDa ORG 1 Homo sapiens SYM 1 DDB2 ID|HUgn0001643 DID|LocusLink:1643 ORG|Homo sapiens RSQ|REFSEQ:NM_000107 RPA|REFPROT:NP_000098 DBA|XM:NM_000107 |NA:BC000093 |NA:BC050455 |NA:BT007139 |NA:U18300 |NA:none PAC|XP:NP_000098 SYM|DDB2 NAM|damage-specific DNA binding protein 2, 48kDa FNC|damage-specific DNA binding protein 2 (48kD) |pyrimidine-dimer repair, DNA damage excision ; GO:0006291 |DNA repair ; GO:0006281 REAB|DDB2 is the smaller subunit of a heterodimeric protein implicated in the etiology |of xeroderma pigmentosum group E. This subunit appears to be required for DNA binding. CHR|11 PRD|damage-specific DNA binding protein 2 (48kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446564 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1643[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595015 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000107 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000107 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=446564 |http://www.geneclinics.org/query?mim=600811 DBL|UNIGENE:Hs.446564 |OMIM:600811 |SNP:1643 MAP|11p12-p11 PHP|Xeroderma pigmentosum, group E, DDB-negative subtype ENZ|damaged DNA binding ; GO:0003684 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ddb2; score == 703; expect == 0.0; MEOW:MGgn0013810 (78%) |species == rat; score == 669; expect == 0.0; MEOW:ref|XP_242065.2| (76%) |species == Weed; gene == At5g58760; score == 138; expect == 5.2e-33; MEOW:ATgn0024424 (30%) } # EOR GENR { RETE|ID 1 HUgn0001644 CHR 1 7 DID 1 LocusLink:1644 MAP 1 7p11 NAM 1 dopa decarboxylase (aromatic L-amino acid decarboxylase) ORG 1 Homo sapiens SYM 1 DDC ID|HUgn0001644 DID|LocusLink:1644 ORG|Homo sapiens RSQ|REFSEQ:NM_000790 RPA|REFPROT:NP_000781 DBA|XM:NM_000790 |XM:NM_000790 |NA:AH001421 |NA:BC000485 |NA:BC008366 |NA:BT007009 |NA:M76180 |NA:M88700 |NA:none PAC|XP:NP_000781 |XP:NP_000781 SYM|DDC NAM|dopa decarboxylase (aromatic L-amino acid decarboxylase) SYN|AADC FNC|dopa decarboxylase (aromatic L-amino acid decarboxylase) |amino acid metabolism ; GO:0006520 |catecholamine biosynthesis ; GO:0042423 CHR|7 PRD|aromatic L-amino acid decarboxylase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408106 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1644[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127738 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000790 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000790 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408106 |http://www.geneclinics.org/query?mim=107930 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00950 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00901 DBL|UNIGENE:Hs.408106 |OMIM:107930 |SNP:1644 ENZ|EC:4.1.1.28 |aromatic-L-amino-acid decarboxylase activity ; GO:0004058 |lyase activity ; GO:0016829 MAP|7p11 HG|species == Mouse; gene == Ddc; score == 900; expect == 0.0; MEOW:MGgn0003231 (89%) |species == rat; score == 891; expect == 0.0; MEOW:ref|NP_036677.1| (88%) |species == Mosquito; gene == LOC23991; score == 617; expect == 3e-177; MEOW:AGgn0023991 (60%) |species == Fruitfly; gene == Ddc; score == 609; expect == 7e-175; MEOW:FBgn0000422 (60%) |species == Worm; gene == tdc-1; score == 566; expect == 2e-161; MEOW:CEgn0029537 (55%) |species == Mosquito; gene == LOC25183; score == 563; expect == 3e-161; MEOW:AGgn0025183 (62%) |species == Mosquito; gene == LOC15998; score == 548; expect == 1e-156; MEOW:AGgn0015998 (54%) |species == Fruitfly; gene == CG30446; score == 546; expect == 6e-156; MEOW:FBgn0050446 (54%) |species == Human; gene == HDC; score == 535; expect == 2e-152; MEOW:HUgn0003067 (52%) |species == Fruitfly; gene == Hdc; score == 529; expect == 3e-150; MEOW:FBgn0005619 (53%) |species == Mosquito; gene == LOC17218; score == 523; expect == 1e-148; MEOW:AGgn0017218 (53%) |species == Mosquito; score == 501; expect == 1e-142; MEOW:AGgn0016531 (48%) |species == Fruitfly; gene == amd; score == 495; expect == 1e-140; MEOW:FBgn0000075 (47%) |species == Weed; gene == At2g20340; score == 464; expect == 6e-131; MEOW:ATgn0009303 (48%) |species == Weed; gene == At4g28680; score == 417; expect == 9e-117; MEOW:ATgn0019396 (43%) |species == rice; score == 403; expect == 2e-112; MEOW:gnl|TIGR|8355.m02311 (47%) |species == rice; score == 374; expect == 1e-103; MEOW:gnl|TIGR|8356.m00356 (39%) |species == rice; score == 369; expect == 3e-102; MEOW:gnl|TIGR|8350.m05264 (40%) |species == rice; score == 368; expect == 1e-101; MEOW:gnl|TIGR|8356.m00358 (38%) |species == rice; score == 365; expect == 9e-101; MEOW:gnl|TIGR|8362.m01761 (42%) |species == rice; score == 359; expect == 3.6e-99; MEOW:gnl|TIGR|8362.m01966 (38%) |species == rice; score == 339; expect == 5.0e-93; MEOW:gnl|TIGR|8353.m03847 (38%) } # EOR GENR { RETE|ID 1 HUgn0001645 CHR 1 10 DID 1 LocusLink:1645 MAP 1 10p15-p14 NAM 1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) ORG 1 Homo sapiens SYM 1 AKR1C1 ID|HUgn0001645 DID|LocusLink:1645 ORG|Homo sapiens RSQ|REFSEQ:NM_001353 RPA|REFPROT:NP_001344 DBA|XM:NM_001353 |NA:AB032150 |NA:U05861 |NA:AB031083 |NA:BC014579 |NA:BC015490 |NA:BC020216 |NA:BC040210 |NA:BM923712 |NA:BT007197 |NA:D26124 |NA:M86609 |NA:S68290 |NA:U05684 |NA:none PAC|XP:NP_001344 SYM|AKR1C1 NAM|aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) SYN|C9 |DD1 |DDH |DDH1 |H-37 |MBAB |HAKRC |MGC8954 |2-ALPHA-HSD |20-ALPHA-HSD FNC|aldo-keto reductase family 1, member C1 |xenobiotic metabolism ; GO:0006805 REAB|This gene encodes a member of the aldo/keto reductase superfamily, which consists |of more than 40 known enzymes and proteins. These enzymes catalyze the conversion |of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or |NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. |This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. |This gene shares high sequence identity with three other gene members and is clustered |with those three genes at chromosome 10p15-p14. CHR|10 PRD|aldo-keto reductase C |dihydrodiol dehydrogenase 1 |chlordecone reductase homolog |hepatic dihydrodiol dehydrogenase |20 alpha-hydroxysteroid dehydrogenase |dihydrodiol dehydrogenase isoform DD1 |type II 3-alpha-hydroxysteroid dehydrogenase |trans-1,2-dihydrobenzene-1,2-diol dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=295131 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1645[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:202890 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001353 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001353 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=295131 DBL|UNIGENE:Hs.295131 |OMIM:600449 |SNP:1645 ENZ|EC:1.3.1.20 |EC:1.1.1.213 |aldo-keto reductase activity ; GO:0004033 |bile acid transporter activity ; GO:0015125 |binding ; GO:0005488 |electron transporter activity ; GO:0005489 |trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ; GO:0047115 MAP|10p15-p14 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == AKR1C2; score == 644; expect == 0.0; MEOW:HUgn0001646 (97%) |species == Human; gene == AKR1C3; score == 585; expect == 1e-167; MEOW:HUgn0008644 (87%) |species == Human; gene == AKR1C4; score == 558; expect == 1e-159; MEOW:HUgn0001109 (82%) |species == Mouse; gene == Akr1c6; score == 525; expect == 1e-149; MEOW:MGgn0028379 (76%) |species == rat; score == 507; expect == 4e-144; MEOW:ref|XP_225538.2| (75%) |species == Mouse; gene == Akr1c18; score == 490; expect == 3e-139; MEOW:MGgn0036174 (71%) |species == Mouse; gene == Akr1c21; score == 487; expect == 2e-138; MEOW:MGgn0027177 (73%) |species == rat; score == 476; expect == 7e-135; MEOW:ref|NP_612519.1| (68%) |species == rat; score == 474; expect == 4e-134; MEOW:ref|XP_341550.1| (69%) |species == rat; score == 471; expect == 2e-133; MEOW:ref|XP_341551.1| (69%) |species == Mouse; gene == 9030611N15Rik; score == 468; expect == 1e-132; MEOW:MGgn0037076 (68%) |species == Mouse; gene == Akr1c12; score == 466; expect == 1e-131; MEOW:MGgn0013337 (68%) |species == rat; score == 466; expect == 6e-132; MEOW:ref|XP_346502.1| (69%) |species == rat; score == 464; expect == 2e-131; MEOW:ref|XP_225537.2| (70%) |species == Mouse; gene == Akr1c13; score == 455; expect == 1e-128; MEOW:MGgn0013338 (66%) |species == Mouse; gene == 4921521F21Rik; score == 452; expect == 1e-127; MEOW:MGgn0023244 (73%) |species == rat; score == 449; expect == 1e-126; MEOW:ref|XP_344627.1| (68%) |species == rat; score == 448; expect == 3e-126; MEOW:ref|XP_225541.2| (68%) |species == Fruitfly; gene == CG6084; score == 312; expect == 1.4e-85; MEOW:FBgn0036182 (50%) |species == Mosquito; gene == LOC3966; score == 285; expect == 1.0e-77; MEOW:AGgn0003966 (45%) |species == Mosquito; gene == LOC23501; score == 281; expect == 1.9e-76; MEOW:AGgn0023501 (47%) |species == Mosquito; gene == LOC23298; score == 277; expect == 2.8e-75; MEOW:AGgn0023298 (48%) |species == Mosquito; gene == LOC23237; score == 275; expect == 1.8e-74; MEOW:AGgn0023237 (50%) |species == Mosquito; gene == LOC19781; score == 274; expect == 2.4e-74; MEOW:AGgn0019781 (48%) |species == Mosquito; gene == LOC18090; score == 265; expect == 1.1e-71; MEOW:AGgn0018090 (43%) |species == Mosquito; score == 265; expect == 1.1e-71; MEOW:AGgn0019779 (43%) |species == Worm; gene == Y39G8B.1a; score == 253; expect == 6.9e-68; MEOW:CEgn0018487 (42%) |species == Fruitfly; gene == CG6083; score == 253; expect == 1.3e-67; MEOW:FBgn0036183 (41%) |species == Fruitfly; gene == CG12766; score == 251; expect == 2.9e-67; MEOW:FBgn0035476 (43%) |species == Worm; gene == Y39G8B.1b; score == 245; expect == 1.9e-65; MEOW:CEgn0018488 (41%) |species == Mosquito; score == 242; expect == 1.3e-64; MEOW:AGgn0015026 (42%) |species == Weed; gene == At2g37770; score == 218; expect == 2.6e-57; MEOW:ATgn0008892 (44%) |species == Weed; gene == At2g37790; score == 216; expect == 1.0e-56; MEOW:ATgn0008894 (42%) |species == rice; score == 216; expect == 1.8e-56; MEOW:gnl|TIGR|8353.m03362 (43%) |species == Weed; gene == At1g59960; score == 215; expect == 2.3e-56; MEOW:ATgn0004631 (42%) |species == rice; score == 214; expect == 1.1e-55; MEOW:gnl|TIGR|8350.m07058 (39%) |species == Weed; gene == At2g37760; score == 212; expect == 2.4e-55; MEOW:ATgn0008891 (41%) |species == Worm; gene == C07D8.6; score == 206; expect == 1.4e-53; MEOW:CEgn0004303 (39%) |species == rice; score == 205; expect == 3.1e-53; MEOW:gnl|TIGR|8352.m03406 (37%) |species == rice; score == 205; expect == 2.4e-53; MEOW:gnl|TIGR|8352.m03407 (39%) |species == Yeast; gene == GRE3; score == 203; expect == 1.2e-52; MEOW:SGgn0001146 (38%) |species == Yeast; gene == GCY1; score == 203; expect == 1.1e-52; MEOW:SGgn0005646 (39%) |species == Weed; gene == At1g59950; score == 202; expect == 2.0e-52; MEOW:ATgn0004629 (41%) |species == Weed; gene == At5g62420; score == 201; expect == 3.3e-52; MEOW:ATgn0022357 (37%) |species == Yeast; gene == YPR1; score == 201; expect == 3.3e-52; MEOW:SGgn0002776 (40%) |species == rice; score == 200; expect == 1.7e-51; MEOW:gnl|TIGR|8350.m05901 (40%) |species == Weed; gene == At3g53880; score == 199; expect == 2.2e-51; MEOW:ATgn0013266 (42%) |species == Weed; gene == M6PR; score == 198; expect == 3.8e-51; MEOW:ATgn0009960 (38%) |species == rice; score == 198; expect == 1.1e-50; MEOW:gnl|TIGR|8352.m03405 (36%) |species == rice; score == 195; expect == 3.5e-50; MEOW:gnl|TIGR|8362.m00128 (38%) |species == Weed; gene == M6PR; score == 193; expect == 1.2e-49; MEOW:ATgn0009959 (37%) |species == rice; score == 190; expect == 1.7e-48; MEOW:gnl|TIGR|8362.m00119 (37%) |species == rice; score == 189; expect == 3.8e-48; MEOW:gnl|TIGR|8360.m01179 (37%) |species == Weed; gene == At5g01670; score == 188; expect == 3.9e-48; MEOW:ATgn0022208 (36%) |species == rice; score == 188; expect == 1.1e-47; MEOW:gnl|TIGR|8362.m00120 (37%) |species == Yeast; gene == YJR096W; score == 172; expect == 1.8e-43; MEOW:SGgn0003857 (33%) |species == ecoli; score == 139; expect == 1.7e-33; MEOW:ref|NP_417485.1| (34%) |species == ecoli; score == 131; expect == 4.3e-31; MEOW:ref|NP_414743.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0001646 CHR 1 10 DID 1 LocusLink:1646 MAP 1 10p15-p14 NAM 1 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) ORG 1 Homo sapiens SYM 1 AKR1C2 ID|HUgn0001646 DID|LocusLink:1646 ORG|Homo sapiens RSQ|REFSEQ:NM_001354 RPA|REFPROT:NP_001345 DBA|XM:NM_001354 |NA:L32592 |NA:AB021654 |NA:AB031084 |NA:AK091194 |NA:BC007024 |NA:BT006653 |NA:M33376 |NA:S68330 |NA:U05598 |NA:none PAC|XP:NP_001345 SYM|AKR1C2 NAM|aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) SYN|DD |DD2 |BABP |DDH2 |HBAB |HAKRD |MCDR2 |AKR1C-pseudo FNC|aldo-keto reductase family 1, member C2 |canalicular bile acid transport ; GO:0015722 |transport ; GO:0006810 |lipid metabolism ; GO:0006629 |digestion ; GO:0007586 REAB|This gene encodes a member of the aldo/keto reductase superfamily, which consists |of more than 40 known enzymes and proteins. These enzymes catalyze the conversion |of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or |NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. |This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid |dehydrogenase activity. This gene shares high sequence identity with three other |gene members and is clustered with those three genes at chromosome 10p15-p14. CHR|10 PRD|bile acid binding protein |dihydrodiol dehydrogenase 2 |pseudo-chlordecone reductase |chlordecone reductase homolog |type II dihydrodiol dehydrogenase |type III 3-alpha-hydroxysteroid dehydrogenase |trans-1,2-dihydrobenzene-1,2-diol dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=201967 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1646[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:385038 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001354 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001354 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=201967 DBL|UNIGENE:Hs.201967 |OMIM:600450 |SNP:1646 ENZ|EC:1.3.1.20 |EC:1.1.1.213 |bile acid transporter activity ; GO:0015125 |binding ; GO:0005488 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 |trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ; GO:0047115 MAP|10p15-p14 HG|species == Human; gene == AKR1C1; score == 644; expect == 0.0; MEOW:HUgn0001645 (97%) |species == Human; gene == AKR1C3; score == 579; expect == 8e-166; MEOW:HUgn0008644 (87%) |species == Human; gene == AKR1C4; score == 548; expect == 1e-156; MEOW:HUgn0001109 (81%) |species == Mouse; gene == Akr1c6; score == 513; expect == 3e-146; MEOW:MGgn0028379 (75%) |species == rat; score == 497; expect == 3e-141; MEOW:ref|XP_225538.2| (74%) |species == Mouse; gene == Akr1c21; score == 486; expect == 5e-138; MEOW:MGgn0027177 (73%) |species == Mouse; gene == Akr1c18; score == 486; expect == 6e-138; MEOW:MGgn0036174 (71%) |species == rat; score == 470; expect == 5e-133; MEOW:ref|NP_612519.1| (67%) |species == rat; score == 469; expect == 9e-133; MEOW:ref|XP_341550.1| (68%) |species == rat; score == 467; expect == 3e-132; MEOW:ref|XP_341551.1| (68%) |species == Mouse; gene == 9030611N15Rik; score == 464; expect == 1e-131; MEOW:MGgn0037076 (67%) |species == rat; score == 462; expect == 1e-130; MEOW:ref|XP_346502.1| (68%) |species == Mouse; gene == Akr1c12; score == 461; expect == 2e-130; MEOW:MGgn0013337 (67%) |species == rat; score == 460; expect == 5e-130; MEOW:ref|XP_225537.2| (70%) |species == Mouse; gene == Akr1c13; score == 452; expect == 1e-127; MEOW:MGgn0013338 (66%) |species == rat; score == 449; expect == 7e-127; MEOW:ref|XP_225541.2| (68%) |species == rat; score == 444; expect == 3e-125; MEOW:ref|XP_344627.1| (68%) |species == Mouse; gene == 4921521F21Rik; score == 441; expect == 2e-124; MEOW:MGgn0023244 (72%) |species == rat; score == 401; expect == 2e-112; MEOW:ref|XP_225544.2| (63%) |species == rat; score == 399; expect == 7e-112; MEOW:ref|XP_344626.1| (63%) |species == Fruitfly; gene == CG6084; score == 311; expect == 2.4e-85; MEOW:FBgn0036182 (50%) |species == Mosquito; gene == LOC3966; score == 287; expect == 4.6e-78; MEOW:AGgn0003966 (46%) |species == Mosquito; gene == LOC23501; score == 282; expect == 1.1e-76; MEOW:AGgn0023501 (47%) |species == Mosquito; gene == LOC23298; score == 278; expect == 1.2e-75; MEOW:AGgn0023298 (48%) |species == Mosquito; gene == LOC19781; score == 275; expect == 1.4e-74; MEOW:AGgn0019781 (48%) |species == Mosquito; gene == LOC23237; score == 275; expect == 1.8e-74; MEOW:AGgn0023237 (50%) |species == Mosquito; gene == LOC18090; score == 265; expect == 1.4e-71; MEOW:AGgn0018090 (43%) |species == Mosquito; score == 265; expect == 1.4e-71; MEOW:AGgn0019779 (43%) |species == Worm; gene == Y39G8B.1a; score == 256; expect == 8.1e-69; MEOW:CEgn0018487 (42%) |species == Fruitfly; gene == CG6083; score == 253; expect == 5.8e-68; MEOW:FBgn0036183 (41%) |species == Worm; gene == Y39G8B.1b; score == 248; expect == 2.2e-66; MEOW:CEgn0018488 (41%) |species == Mosquito; score == 241; expect == 2.2e-64; MEOW:AGgn0015026 (42%) |species == Weed; gene == At2g37760; score == 214; expect == 4.8e-56; MEOW:ATgn0008891 (42%) |species == Weed; gene == At2g37770; score == 214; expect == 3.8e-56; MEOW:ATgn0008892 (44%) |species == Weed; gene == At2g37790; score == 212; expect == 1.9e-55; MEOW:ATgn0008894 (42%) |species == rice; score == 212; expect == 2.6e-55; MEOW:gnl|TIGR|8353.m03362 (42%) |species == rice; score == 210; expect == 2.1e-54; MEOW:gnl|TIGR|8350.m07058 (39%) |species == Weed; gene == At1g59960; score == 209; expect == 1.6e-54; MEOW:ATgn0004631 (41%) |species == Yeast; gene == GRE3; score == 207; expect == 1.8e-54; MEOW:SGgn0001146 (38%) |species == Weed; gene == At5g62420; score == 204; expect == 6.7e-53; MEOW:ATgn0022357 (38%) |species == Yeast; gene == YPR1; score == 203; expect == 1.1e-52; MEOW:SGgn0002776 (41%) |species == Weed; gene == M6PR; score == 201; expect == 4.2e-52; MEOW:ATgn0009960 (39%) |species == Yeast; gene == GCY1; score == 200; expect == 2.8e-52; MEOW:SGgn0005646 (39%) |species == Weed; gene == At3g53880; score == 199; expect == 2.2e-51; MEOW:ATgn0013266 (43%) |species == rice; score == 199; expect == 1.3e-51; MEOW:gnl|TIGR|8352.m03406 (37%) |species == rice; score == 198; expect == 3.0e-51; MEOW:gnl|TIGR|8352.m03407 (38%) |species == Weed; gene == At1g59950; score == 197; expect == 8.3e-51; MEOW:ATgn0004629 (41%) |species == Weed; gene == M6PR; score == 196; expect == 1.4e-50; MEOW:ATgn0009959 (37%) |species == rice; score == 195; expect == 5.3e-50; MEOW:gnl|TIGR|8350.m05901 (40%) |species == rice; score == 195; expect == 3.5e-50; MEOW:gnl|TIGR|8362.m00128 (38%) |species == rice; score == 194; expect == 1.6e-49; MEOW:gnl|TIGR|8352.m03405 (36%) |species == rice; score == 187; expect == 1.5e-47; MEOW:gnl|TIGR|8351.m00211 (36%) |species == rice; score == 186; expect == 1.9e-47; MEOW:gnl|TIGR|8362.m00119 (36%) |species == rice; score == 185; expect == 5.5e-47; MEOW:gnl|TIGR|8360.m01179 (37%) |species == Weed; gene == At5g01670; score == 184; expect == 4.3e-47; MEOW:ATgn0022208 (36%) |species == rice; score == 181; expect == 3.6e-46; MEOW:gnl|TIGR|8362.m00120 (37%) |species == Yeast; gene == YJR096W; score == 171; expect == 1.1e-43; MEOW:SGgn0003857 (33%) |species == ecoli; score == 139; expect == 1.3e-33; MEOW:ref|NP_417485.1| (34%) |species == ecoli; score == 133; expect == 1.4e-32; MEOW:ref|NP_414743.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0001647 CHR 1 1 DID 1 LocusLink:1647 MAP 1 1p31.2-p31.1 NAM 1 growth arrest and DNA-damage-inducible, alpha ORG 1 Homo sapiens SYM 1 GADD45A ID|HUgn0001647 DID|LocusLink:1647 ORG|Homo sapiens RSQ|REFSEQ:NM_001924 RPA|REFPROT:NP_001915 DBA|XM:NM_001924 |NA:L24498 |NA:BC011757 |NA:M60974 |NA:none PAC|XP:NP_001915 SYM|GADD45A NAM|growth arrest and DNA-damage-inducible, alpha SYN|DDIT1 |GADD45 FNC|growth arrest and DNA-damage-inducible, alpha |cell cycle arrest ; GO:0007050 |regulation of CDK activity ; GO:0000079 |protein biosynthesis ; GO:0006412 |DNA repair ; GO:0006281 |apoptosis ; GO:0006915 REAB|This gene is a member of a group of genes whose transcript levels are increased following |stressful growth arrest conditions and treatment with DNA-damaging agents. The protein |encoded by this gene responds to environmental stresses by mediating activation |of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription |of this gene is mediated by both p53-dependent and -independent mechanisms. CHR|1 PRD|DNA damage-inducible transcript 1 |DNA damage-inducible transcript-1 |DNA-damage-inducible transcript 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80409 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1647[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127967 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001924 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001924 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80409 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28510 DBL|UNIGENE:Hs.80409 |OMIM:126335 |SNP:1647 MAP|1p31.2-p31.1 ENZ|structural constituent of ribosome ; GO:0003735 CEL|ribosome ; GO:0005840 |nucleus ; GO:0005634 HG|species == Mouse; gene == Gadd45a; score == 314; expect == 1.1e-86; MEOW:MGgn0003233 (94%) |species == rat; score == 305; expect == 5.6e-84; MEOW:ref|NP_077041.1| (92%) |species == Human; gene == GADD45G; score == 177; expect == 1.8e-45; MEOW:HUgn0010912 (54%) |species == Human; gene == GADD45B; score == 175; expect == 1.1e-44; MEOW:HUgn0004616 (53%) } # EOR GENR { RETE|ID 1 HUgn0001648 CHR 1 12 DID 1 LocusLink:1648 MAP 1 12q NAM 1 DNA-damage-inducible transcript 1-like ORG 1 Homo sapiens SYM 1 DDIT1L ID|HUgn0001648 DID|LocusLink:1648 ORG|Homo sapiens SYM|DDIT1L NAM|DNA-damage-inducible transcript 1-like SYN|GADD45AL CHR|12 MAP|12q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128099 } # EOR GENR { RETE|ID 1 HUgn0001649 CHR 1 12 DID 1 LocusLink:1649 MAP 1 12q13.1-q13.2 NAM 1 DNA-damage-inducible transcript 3 ORG 1 Homo sapiens SYM 1 DDIT3 ID|HUgn0001649 DID|LocusLink:1649 ORG|Homo sapiens RSQ|REFSEQ:NM_004083 RPA|REFPROT:NP_004074 DBA|XM:NM_004083 |NA:BC003637 |NA:S40706 |NA:none PAC|XP:NP_004074 SYM|DDIT3 NAM|DNA-damage-inducible transcript 3 SYN|CHOP |CEBPZ |CHOP10 |GADD153 FNC|DNA-damage-inducible transcript 3 |cell cycle arrest ; GO:0007050 |response to DNA damage stimulus ; GO:0006974 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|12 PRD|C/EBP zeta |C/EBP homologous protein |growth arrest- and DNA damage-inducible DBL|OMIM:126337 |SNP:1649 MAP|12q13.1-q13.2 PHP|Myxoid liposarcoma URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1649[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128102 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004083 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004083 ENZ|transcription co-repressor activity ; GO:0003714 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ddit3; score == 253; expect == 3.1e-68; MEOW:MGgn0003234 (88%) |species == rat; score == 250; expect == 3.9e-67; MEOW:ref|NP_077048.1| (88%) } # EOR GENR { RETE|ID 1 HUgn0001650 CHR 1 1 DID 1 LocusLink:1650 MAP 1 1p36.1 NAM 1 dolichyl-diphosphooligosaccharide-protein glycosyltransferase ORG 1 Homo sapiens SYM 1 DDOST ID|HUgn0001650 DID|LocusLink:1650 ORG|Homo sapiens RSQ|REFSEQ:NM_005216 RPA|REFPROT:NP_005207 DBA|XM:NM_005216 |NA:D89060 |NA:AB062391 |NA:BC002594 |NA:D29643 |NA:none PAC|XP:NP_005207 SYM|DDOST NAM|dolichyl-diphosphooligosaccharide-protein glycosyltransferase SYN|OST |OST48 |KIAA0115 FNC|dolichyl-diphosphooligosaccharide-protein glycosyltransferase |N-linked glycosylation via asparagine ; GO:0018279 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=301882 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1650[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9786132 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005216 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005216 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=301882 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0115 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 DBL|UNIGENE:Hs.301882 |OMIM:602202 |SNP:1650 ENZ|EC:2.4.1.119 |dolichyl-diphosphooligosaccharide-protein glycosyltransferase activity ; GO:0004579 |transferase activity ; GO:0016740 MAP|1p36.1 CEL|endoplasmic reticulum membrane ; GO:0005789 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Ddost; score == 825; expect == 0.0; MEOW:MGgn0003236 (95%) |species == rat; score == 726; expect == 0.0; MEOW:ref|XP_233581.2| (83%) |species == Mosquito; gene == LOC21015; score == 534; expect == 3e-152; MEOW:AGgn0021015 (63%) |species == Fruitfly; gene == Ost48; score == 518; expect == 2e-147; MEOW:FBgn0014868 (61%) |species == Worm; gene == T09A5.11; score == 432; expect == 2e-121; MEOW:CEgn0015862 (53%) |species == rice; score == 369; expect == 1e-102; MEOW:gnl|TIGR|8355.m00986 (47%) |species == Weed; gene == At5g66680; score == 367; expect == 7e-102; MEOW:ATgn0025679 (46%) } # EOR GENR { RETE|ID 1 HUgn0001652 CHR 1 22 DID 1 LocusLink:1652 MAP 1 22q11.23 NAM 1 D-dopachrome tautomerase ORG 1 Homo sapiens SYM 1 DDT ID|HUgn0001652 DID|LocusLink:1652 ORG|Homo sapiens RSQ|REFSEQ:NM_001355 RPA|REFPROT:NP_001346 DBA|XM:NM_001355 |NA:AF012434 |NA:AF058293 |NA:Y11151 |NA:BC005971 |NA:BC015508 |NA:U49785 |NA:U84143 |NA:none PAC|XP:NP_001346 SYM|DDT NAM|D-dopachrome tautomerase FNC|D-dopachrome tautomerase |melanin biosynthesis from tyrosine ; GO:0006583 REAB|D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT |gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme |activity, and gene structure. DDT and MIF are closely linked on chromosome 22. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433902 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1652[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835152 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001355 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001355 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433902 DBL|UNIGENE:Hs.433902 |OMIM:602750 |SNP:1652 MAP|22q11.23 ENZ|dopachrome isomerase activity ; GO:0004167 |isomerase activity ; GO:0016853 HG|species == Mouse; gene == Ddt; score == 184; expect == 5.2e-48; MEOW:MGgn0003239 (73%) |species == rat; score == 184; expect == 8.0e-48; MEOW:ref|NP_077045.1| (74%) |species == Human; gene == LOC376836; score == 168; expect == 3.5e-43; MEOW:HUgn0376836 (83%) } # EOR GENR { RETE|ID 1 HUgn0001653 CHR 1 2 DID 1 LocusLink:1653 MAP 1 2p24 NAM 1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 ORG 1 Homo sapiens SYM 1 DDX1 ID|HUgn0001653 DID|LocusLink:1653 ORG|Homo sapiens RSQ|REFSEQ:NM_004939 RPA|REFPROT:NP_004930 DBA|XM:NM_004939 |NA:BC012132 |NA:BC012739 |NA:BC053673 |NA:X70649 |NA:none PAC|XP:NP_004930 SYM|DDX1 NAM|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 SYN|DBP-RB FNC|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 |ribosome biogenesis ; GO:0007046 |cell growth and/or maintenance ; GO:0008151 |spliceosome assembly ; GO:0000245 |regulation of translational initiation ; GO:0006446 |spermatogenesis ; GO:0007283 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein of unknown function. It shows high transcription levels in 2 retinoblastoma |cell lines and in tissues of neuroectodermal origin. CHR|2 PRD|DEAD box-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440599 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1653[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141738 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004939 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004939 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440599 DBL|UNIGENE:Hs.440599 |OMIM:601257 |SNP:1653 MAP|2p24 ENZ|ATP binding ; GO:0005524 |RNA helicase activity ; GO:0003724 |RNA binding ; GO:0003723 |ATP dependent helicase activity ; GO:0008026 |hydrolase activity ; GO:0016787 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 1400; expect == 0.0; MEOW:ref|XP_343038.1| (97%) |species == Mouse; gene == Ddx1; score == 1396; expect == 0.0; MEOW:MGgn0029276 (97%) |species == Mosquito; gene == LOC10668; score == 922; expect == 0.0; MEOW:AGgn0010668 (61%) |species == Fruitfly; gene == Ddx1; score == 872; expect == 0.0; MEOW:FBgn0015075 (58%) |species == Worm; gene == Y55F3BR.1; score == 621; expect == 3e-178; MEOW:CEgn0028581 (47%) |species == rice; score == 165; expect == 2.2e-40; MEOW:gnl|TIGR|8359.m03983 (33%) |species == Weed; gene == At3g58570; score == 145; expect == 8.1e-35; MEOW:ATgn0012137 (31%) |species == Weed; gene == At1g20920; score == 134; expect == 1.9e-31; MEOW:ATgn0003707 (30%) } # EOR GENR { RETE|ID 1 HUgn0001654 CHR 1 X DID 1 LocusLink:1654 MAP 1 Xp11.3-p11.23 NAM 1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked ORG 1 Homo sapiens SYM 1 DDX3X ID|HUgn0001654 DID|LocusLink:1654 ORG|Homo sapiens RSQ|REFSEQ:NM_001356 |REFSEQ:NM_024005 RPA|REFPROT:NP_001347 |REFPROT:NP_076829 DBA|XM:NM_001356 |XM:NM_024005 |NA:AF000982 |NA:AF000983 |NA:AF061337 |NA:BC007668 |NA:BC011819 |NA:U50553 |NA:none PAC|XP:NP_001347 |XP:NP_076829 SYM|DDX3X NAM|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked SYN|DBX |DDX3 |HLP2 |DDX14 FNC|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein, which interacts specifically with hepatitis C virus core protein resulting |a change in intracellular location. This gene has a homolog located in the nonrecombining |region of the Y chromosome. The protein sequence is 91% identical between this gene |and the Y-linked homolog. Alternative splicing of this gene generates 2 transcript |variants, which are divergent in the 3' UTR. CHR|X PRD|CAP-Rf |DEAD/H box-3 |helicase like protein 2 |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380774 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1654[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836491 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001356 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001356 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380774 DBL|UNIGENE:Hs.380774 |OMIM:300160 |SNP:1654 MAP|Xp11.3-p11.23 ENZ|ATP dependent RNA helicase activity ; GO:0004004 |ATP binding ; GO:0005524 |RNA binding ; GO:0003723 |DNA binding ; GO:0003677 HG|species == Human; gene == DDX3Y; score == 1083; expect == 0.0; MEOW:HUgn0008653 (91%) |species == Mouse; gene == Ddx3x; score == 1045; expect == 0.0; MEOW:MGgn0003243 (98%) |species == rat; score == 1043; expect == 0.0; MEOW:ref|XP_228701.2| (98%) |species == Mouse; gene == Ddx3y; score == 1025; expect == 0.0; MEOW:MGgn0003209 (89%) |species == rat; score == 1015; expect == 0.0; MEOW:ref|XP_344188.1| (95%) |species == Zfish; gene == pl10; score == 896; expect == 0.0; MEOW:ZFgn0000026 (71%) |species == Human; gene == LOC139932; score == 651; expect == 0.0; MEOW:HUgn0139932 (64%) |species == Fruitfly; gene == bel; score == 626; expect == 6e-180; MEOW:FBgn0000171 (67%) |species == Yeast; gene == DBP1; score == 557; expect == 6e-159; MEOW:SGgn0006040 (48%) |species == rice; score == 533; expect == 3e-151; MEOW:gnl|TIGR|8360.m05316 (58%) |species == Yeast; gene == DED1; score == 531; expect == 2e-151; MEOW:SGgn0005730 (57%) |species == rice; score == 525; expect == 1e-148; MEOW:gnl|TIGR|8355.m00927 (56%) |species == rice; score == 521; expect == 8e-148; MEOW:gnl|TIGR|8358.m03025 (51%) |species == Weed; gene == At3g58510; score == 517; expect == 7e-147; MEOW:ATgn0012115 (55%) |species == Weed; gene == At3g58570; score == 515; expect == 3e-146; MEOW:ATgn0012137 (56%) |species == Weed; gene == At2g42520; score == 510; expect == 1e-144; MEOW:ATgn0008188 (50%) |species == Worm; gene == vbh-1; score == 509; expect == 2e-144; MEOW:CEgn0029809 (55%) |species == Mosquito; gene == LOC17541; score == 388; expect == 2e-108; MEOW:AGgn0017541 (65%) |species == Mosquito; gene == LOC13029; score == 345; expect == 3.1e-95; MEOW:AGgn0013029 (47%) |species == Mosquito; gene == LOC15773; score == 333; expect == 1.3e-91; MEOW:AGgn0015773 (43%) |species == Mosquito; gene == LOC21826; score == 317; expect == 1.3e-86; MEOW:AGgn0021826 (43%) |species == Mosquito; score == 311; expect == 4.2e-85; MEOW:AGgn0020229 (40%) |species == ecoli; score == 267; expect == 1.4e-72; MEOW:ref|NP_415318.1| (42%) |species == ecoli; score == 226; expect == 3.7e-60; MEOW:ref|NP_417631.1| (37%) |species == chimp; score == 170; expect == 3.7e-44; MEOW:sp|BAB83886|BAB83886 (29%) |species == chimp; score == 170; expect == 3.7e-44; MEOW:sp|BAC78161|BAC78161 (29%) } # EOR GENR { RETE|ID 1 HUgn0001655 CHR 1 17 DID 1 LocusLink:1655 MAP 1 17q21 NAM 1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 ORG 1 Homo sapiens SYM 1 DDX5 ID|HUgn0001655 DID|LocusLink:1655 ORG|Homo sapiens RSQ|REFSEQ:NM_004396 RPA|REFPROT:NP_004387 DBA|XM:NM_004396 |NA:AF015812 |NA:AJ010931 |NA:AK055995 |NA:BC016027 |NA:BT006943 |NA:BX571764 |NA:X15729 |NA:X52104 |NA:none PAC|XP:NP_004387 SYM|DDX5 NAM|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 SYN|P68 |p68 |HLR1 |G17P1 |HUMP68 FNC|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 |cell growth ; GO:0016049 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure, such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein, which is a RNA-dependent ATPase, and also a proliferation-associated nuclear |antigen, specifically reacting with the simian virus 40 tumor antigen. This gene |consists of 13 exons, and alternatively spliced transcripts containing several intron |sequences have been detected, but no isoforms encoded by these transcripts have |been identified. CHR|17 PRD|DEAD box-5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279806 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1655[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004396 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004396 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=279806 DBL|UNIGENE:Hs.279806 |OMIM:180630 |SNP:1655 MAP|17q21 ENZ|ATP binding ; GO:0005524 |RNA helicase activity ; GO:0003724 |RNA binding ; GO:0003723 |ATP dependent helicase activity ; GO:0008026 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1111; expect == 0.0; MEOW:ref|XP_213508.1| (98%) |species == Mouse; gene == Ddx5; score == 1107; expect == 0.0; MEOW:MGgn0003245 (98%) |species == Human; gene == DDX17; score == 753; expect == 0.0; MEOW:HUgn0010521 (67%) |species == Mosquito; gene == LOC21826; score == 600; expect == 4e-172; MEOW:AGgn0021826 (64%) |species == Mosquito; gene == LOC15773; score == 571; expect == 3e-163; MEOW:AGgn0015773 (64%) |species == Fruitfly; gene == Rm62; score == 565; expect == 2e-161; MEOW:FBgn0003261 (65%) |species == Mosquito; gene == LOC21335; score == 553; expect == 6e-158; MEOW:AGgn0021335 (63%) |species == Yeast; gene == DBP2; score == 553; expect == 2e-158; MEOW:SGgn0005056 (59%) |species == Fruitfly; gene == CG10777; score == 550; expect == 1e-156; MEOW:FBgn0029979 (58%) |species == Mosquito; gene == LOC21062; score == 547; expect == 3e-156; MEOW:AGgn0021062 (67%) |species == Worm; gene == F58E10.3; score == 538; expect == 2e-153; MEOW:CEgn0012369 (59%) |species == Weed; gene == At1g55150; score == 537; expect == 1e-152; MEOW:ATgn0000873 (59%) |species == rice; score == 509; expect == 4e-144; MEOW:gnl|TIGR|8350.m06431 (58%) |species == Mosquito; score == 501; expect == 1e-141; MEOW:AGgn0020229 (57%) |species == rice; score == 488; expect == 7e-138; MEOW:gnl|TIGR|8350.m00908 (59%) |species == Weed; gene == At5g63120; score == 451; expect == 5e-127; MEOW:ATgn0023193 (60%) |species == rice; score == 426; expect == 3e-119; MEOW:gnl|TIGR|8350.m00677 (48%) |species == Zfish; gene == pl10; score == 316; expect == 3.2e-86; MEOW:ZFgn0000026 (43%) |species == Zfish; gene == vasa; score == 279; expect == 3.4e-75; MEOW:ZFgn0000244 (38%) |species == ecoli; score == 248; expect == 1.1e-66; MEOW:ref|NP_415318.1| (36%) |species == chimp; score == 230; expect == 2.7e-62; MEOW:sp|O77731|O77731 (100%) |species == ecoli; score == 225; expect == 5.8e-60; MEOW:ref|NP_417631.1| (38%) |species == ecoli; score == 209; expect == 3.0e-54; MEOW:ref|NP_418227.1| (38%) |species == ecoli; score == 202; expect == 6.9e-53; MEOW:ref|NP_417071.1| (36%) } # EOR GENR { RETE|ID 1 HUgn0001656 CHR 1 11 DID 1 LocusLink:1656 MAP 1 11q23.3 NAM 1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 ORG 1 Homo sapiens SYM 1 DDX6 ID|HUgn0001656 DID|LocusLink:1656 ORG|Homo sapiens RSQ|REFSEQ:NM_004397 RPA|REFPROT:NP_004388 DBA|XM:NM_004397 |NA:BC026228 |NA:BC039826 |NA:D17532 |NA:Z11685 |NA:none PAC|XP:NP_004388 SYM|DDX6 NAM|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 SYN|P54 |RCK |HLR2 FNC|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 |cell growth and/or maintenance ; GO:0008151 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein. It may contribute to the cell proliferation and carcinogenesis. CHR|11 PRD|DEAD box-6 DBL|OMIM:600326 |SNP:1656 MAP|11q23.3 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1656[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132676 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004397 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004397 ENZ|ATP binding ; GO:0005524 |RNA helicase activity ; GO:0003724 |RNA binding ; GO:0003723 |ATP dependent helicase activity ; GO:0008026 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ddx6; score == 894; expect == 0.0; MEOW:MGgn0003247 (97%) |species == rat; score == 894; expect == 0.0; MEOW:ref|XP_236192.2| (97%) |species == Mosquito; score == 628; expect == 1e-180; MEOW:AGgn0010638 (76%) |species == Fruitfly; gene == me31B; score == 620; expect == 6e-178; MEOW:FBgn0004419 (71%) |species == Weed; gene == At3g61240; score == 603; expect == 9e-173; MEOW:ATgn0014066 (68%) |species == rice; score == 596; expect == 1e-170; MEOW:gnl|TIGR|8352.m04156 (71%) |species == Weed; gene == At2g45810; score == 591; expect == 4e-169; MEOW:ATgn0010081 (67%) |species == Weed; gene == At4g00660; score == 588; expect == 3e-168; MEOW:ATgn0020186 (71%) |species == rice; score == 578; expect == 2e-165; MEOW:gnl|TIGR|8362.m02833 (69%) |species == Yeast; gene == DHH1; score == 568; expect == 3e-162; MEOW:SGgn0002319 (68%) |species == rice; score == 563; expect == 2e-160; MEOW:gnl|TIGR|8351.m04023 (72%) |species == Worm; gene == inf-1; score == 292; expect == 1.7e-79; MEOW:CEgn0000970 (38%) |species == Worm; gene == F33D11.10; score == 280; expect == 1.1e-75; MEOW:CEgn0009892 (38%) |species == Worm; gene == Y65B4A.6; score == 280; expect == 8.5e-76; MEOW:CEgn0028637 (39%) |species == Human; gene == EIF4A1; score == 277; expect == 1.0e-74; MEOW:HUgn0001973 (38%) |species == Mouse; gene == Eif4a1; score == 277; expect == 6.9e-75; MEOW:MGgn0003767 (38%) |species == rat; score == 277; expect == 1.1e-74; MEOW:ref|XP_213364.2| (38%) |species == Human; gene == DDX48; score == 276; expect == 1.4e-74; MEOW:HUgn0009775 (37%) |species == Mouse; gene == Ddx48; score == 276; expect == 1.2e-74; MEOW:MGgn0020153 (37%) |species == rat; score == 273; expect == 1.5e-73; MEOW:ref|XP_221325.2| (38%) |species == Human; gene == EIF4A2; score == 271; expect == 5.8e-73; MEOW:HUgn0001974 (38%) |species == Mouse; gene == Eif4a2; score == 271; expect == 3.8e-73; MEOW:MGgn0003768 (38%) |species == Human; gene == BAT1; score == 245; expect == 5.1e-65; MEOW:HUgn0007919 (33%) |species == Human; gene == DDX39; score == 245; expect == 3.9e-65; MEOW:HUgn0010212 (35%) |species == chimp; score == 245; expect == 5.1e-65; MEOW:sp|BAB83886|BAB83886 (33%) |species == chimp; score == 245; expect == 5.1e-65; MEOW:sp|BAC78161|BAC78161 (33%) |species == Mouse; gene == Ddx39; score == 244; expect == 4.9e-65; MEOW:MGgn0021141 (34%) |species == Mouse; gene == Bat1a; score == 244; expect == 6.5e-65; MEOW:MGgn0040073 (35%) |species == rat; score == 244; expect == 1.0e-64; MEOW:ref|XP_346596.1| (35%) |species == rat; score == 244; expect == 1.0e-64; MEOW:ref|XP_347363.1| (35%) |species == rat; score == 243; expect == 1.5e-64; MEOW:ref|NP_446015.1| (34%) |species == Human; gene == LOC341784; score == 241; expect == 5.0e-64; MEOW:HUgn0341784 (35%) |species == ecoli; score == 233; expect == 2.7e-62; MEOW:ref|NP_415318.1| (34%) |species == ecoli; score == 232; expect == 4.6e-62; MEOW:ref|NP_417631.1| (33%) |species == Human; gene == DDX20; score == 225; expect == 4.7e-59; MEOW:HUgn0011218 (33%) |species == Mouse; gene == Ddx20; score == 223; expect == 1.2e-58; MEOW:MGgn0014026 (32%) |species == ecoli; score == 209; expect == 2.0e-54; MEOW:ref|NP_415859.1| (31%) |species == Zfish; gene == ddx19; score == 196; expect == 1.6e-51; MEOW:ZFgn0002581 (34%) |species == Zfish; gene == ddx54; score == 189; expect == 1.1e-49; MEOW:ZFgn0002658 (30%) |species == ecoli; score == 189; expect == 3.4e-49; MEOW:ref|NP_417071.1| (33%) |species == Zfish; gene == pl10; score == 188; expect == 4.3e-49; MEOW:ZFgn0000026 (31%) |species == Zfish; gene == ddx55; score == 179; expect == 1.2e-46; MEOW:ZFgn0002651 (32%) |species == Zfish; gene == vasa; score == 176; expect == 1.0e-45; MEOW:ZFgn0000244 (32%) } # EOR GENR { RETE|ID 1 HUgn0001657 CHR 1 5 DID 1 LocusLink:1657 MAP 1 5q22 NAM 1 Dmx-like 1 ORG 1 Homo sapiens SYM 1 DMXL1 ID|HUgn0001657 DID|LocusLink:1657 ORG|Homo sapiens RSQ|REFSEQ:NM_005509 RPA|REFPROT:NP_005500 DBA|XM:NM_005509 |NA:AJ005821 PAC|XP:NP_005500 SYM|DMXL1 NAM|Dmx-like 1 FNC|Dmx-like 1 |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is a member of a superfamily of WD repeat proteins. | The function of this protein is not yet determined; however, other related family |members perform functions involved in regulatory processes. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181042 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1657[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836469 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005509 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005509 DBL|UNIGENE:Hs.181042 |OMIM:605671 |SNP:1657 MAP|5q22 ENZ|subtilase activity ; GO:0004289 |protein binding ; GO:0005515 HG|species == rat; score == 5300; expect == 0.0; MEOW:ref|XP_225941.2| (88%) |species == Human; gene == RC3; score == 3135; expect == 0.0; MEOW:HUgn0023312 (54%) |species == Mosquito; gene == LOC20585; score == 1916; expect == 0.0; MEOW:AGgn0020585 (37%) |species == Mosquito; score == 1897; expect == 0.0; MEOW:AGgn0027914 (37%) |species == Fruitfly; gene == CG3585; score == 1463; expect == 0.0; MEOW:FBgn0023458 (36%) |species == Worm; gene == F54E4.1; score == 1307; expect == 0.0; MEOW:CEgn0011806 (30%) |species == Mouse; gene == E130119P06Rik; score == 1012; expect == 0.0; MEOW:MGgn0043753 (55%) |species == rice; score == 173; expect == 1.1e-42; MEOW:gnl|TIGR|8350.m03371 (24%) |species == Weed; gene == At2g46560; score == 136; expect == 2.9e-31; MEOW:ATgn0010673 (31%) } # EOR GENR { RETE|ID 1 HUgn0001658 CHR 1 17 DID 1 LocusLink:1658 MAP 1 17q21.31 NAM 1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 7 (RNA helicase, 52kDa) ORG 1 Homo sapiens SYM 1 DDX7 ID|HUgn0001658 DID|LocusLink:1658 ORG|Homo sapiens SYM|DDX7 NAM|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 7 (RNA helicase, 52kDa) REAB|DISCONTINUED: LocusID 1658 was defined by NM_004940.1 and D26528.1, which appear |to be of bacterial origin. There is no evidence for this sequence in human. CHR|17 PRD|RNA helicase, 52kD |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 7 (RNA helicase, 52kD) DBL|OMIM:603793 MAP|17q21.31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:344937 PHP|Member 7 of the DEAD box ATP-dependent RNA helicase protein family ENZ|ATP dependent RNA helicase activity ; GO:0004004 |pre-mRNA splicing factor activity ; GO:0008248 |adenosinetriphosphatase activity ; GO:0004002 FNC|RNA processing ; GO:0006396 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0001659 CHR 1 17 DID 1 LocusLink:1659 MAP 1 17q21.31 NAM 1 DEAH (Asp-Glu-Ala-His) box polypeptide 8 ORG 1 Homo sapiens SYM 1 DHX8 ID|HUgn0001659 DID|LocusLink:1659 ORG|Homo sapiens RSQ|REFSEQ:NM_004941 RPA|REFPROT:NP_004932 DBA|XM:NM_004941 |NA:BC020697 |NA:BC038223 |NA:BC044586 |NA:BC047327 |NA:D50487 |NA:none PAC|XP:NP_004932 SYM|DHX8 NAM|DEAH (Asp-Glu-Ala-His) box polypeptide 8 SYN|DDX8 |HRH1 |PRP22 FNC|DEAH (Asp-Glu-Ala-His) box polypeptide 8 |RNA splicing ; GO:0008380 |nuclear mRNA splicing, via spliceosome ; GO:0000398 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein, which is highly homologous to yeast Prp22. This protein facilitates nuclear |export of spliced mRNA by releasing the RNA from the spliceosome. CHR|17 PRD|DEAH-box protein 8 |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171872 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1659[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:422168 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004941 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004941 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171872 DBL|UNIGENE:Hs.171872 |OMIM:600396 |SNP:1659 MAP|17q21.31 ENZ|ATP dependent RNA helicase activity ; GO:0004004 |pre-mRNA splicing factor activity ; GO:0008248 |ATP binding ; GO:0005524 |RNA binding ; GO:0003723 CEL|spliceosome complex ; GO:0005681 HG|species == rat; score == 1877; expect == 0.0; MEOW:ref|XP_213460.2| (99%) |species == Fruitfly; gene == CG8241; score == 1447; expect == 0.0; MEOW:FBgn0033898 (76%) |species == Mosquito; score == 1442; expect == 0.0; MEOW:AGgn0015955 (77%) |species == Worm; gene == mog-5; score == 1302; expect == 0.0; MEOW:CEgn0002040 (68%) |species == rice; score == 1270; expect == 0.0; MEOW:gnl|TIGR|8351.m01837 (65%) |species == Weed; gene == At3g26560; score == 1234; expect == 0.0; MEOW:ATgn0012143 (65%) |species == rice; score == 1187; expect == 0.0; MEOW:gnl|TIGR|8354.m02218 (60%) |species == Yeast; gene == PRP22; score == 897; expect == 0.0; MEOW:SGgn0000815 (49%) |species == Mouse; gene == Dhx16; score == 740; expect == 0.0; MEOW:MGgn0020267 (58%) |species == chimp; score == 737; expect == 0.0; MEOW:sp|BAC78177|BAC78177 (57%) |species == Mouse; gene == Dhx38; score == 736; expect == 0.0; MEOW:MGgn0015107 (47%) |species == Human; gene == DHX38; score == 735; expect == 0.0; MEOW:HUgn0009785 (46%) |species == Human; gene == DHX16; score == 727; expect == 0.0; MEOW:HUgn0008449 (56%) |species == Human; gene == DHX15; score == 630; expect == 1e-180; MEOW:HUgn0001665 (52%) |species == Mouse; gene == Dhx15; score == 608; expect == 5e-174; MEOW:MGgn0003241 (52%) |species == Mouse; gene == Dhx8; score == 597; expect == 1e-170; MEOW:MGgn0003248 (100%) |species == ecoli; score == 406; expect == 5e-113; MEOW:ref|NP_415931.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0001660 CHR 1 1 DID 1 LocusLink:1660 MAP 1 1q25 NAM 1 DEAH (Asp-Glu-Ala-His) box polypeptide 9 ORG 1 Homo sapiens SYM 1 DHX9 ID|HUgn0001660 DID|LocusLink:1660 ORG|Homo sapiens RSQ|REFSEQ:NM_001357 |REFSEQ:NM_030588 RPA|REFPROT:NP_001348 |REFPROT:NP_085077 DBA|XM:NM_001357 |XM:NM_030588 |NA:AK096582 |NA:AK130564 |NA:BC008773 |NA:BC014246 |NA:BC025245 |NA:BC032742 |NA:BC058896 |NA:L13848 |NA:U03643 |NA:Y10658 PAC|XP:NP_001348 |XP:NP_085077 SYM|DHX9 NAM|DEAH (Asp-Glu-Ala-His) box polypeptide 9 SYN|LKP |RHA |DDX9 |NDHII |NDH II FNC|DEAH (Asp-Glu-Ala-His) box polypeptide 9 isoform 1 |DEAH (Asp-Glu-Ala-His) box polypeptide 9 isoform 2 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene includes 2 alternatively |spliced transcripts encoding 2 different isoforms. The larger isoform is a DEAD |box protein with RNA helicase activity. It may participate in melting of DNA:RNA |hybrids, such as those that occur during transcription, and may play a role in X-linked |gene expression. It contains 2 copies of a double-stranded RNA-binding domain, a |DEXH core domain and an RGG box. The RNA-binding domains and RGG box influence and |regulate RNA helicase activity. The smaller isoform is a lymphocyte granule protein. |It lacks RNA-binding domains and DEXH core domain, but contains an RGG box, which |may render this isoform RNA binding function. CHR|1 PRD|leukophysin |ATP-dependent RNA helicase A |DEAD/H box-9 (nuclear DNA helicase II; RNA helicase A) |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374524 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1660[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:219874 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001357 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001357 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374524 DBL|UNIGENE:Hs.374524 |OMIM:603115 |SNP:1660 MAP|1q25 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |ATP dependent RNA helicase activity ; GO:0004004 |RNA helicase activity ; GO:0003724 |adenosinetriphosphatase activity ; GO:0004002 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 2051; expect == 0.0; MEOW:ref|XP_239780.2| (90%) |species == Mouse; gene == Dhx9; score == 2040; expect == 0.0; MEOW:MGgn0003249 (90%) |species == Fruitfly; gene == mle; score == 1105; expect == 0.0; MEOW:FBgn0002774 (49%) |species == Mosquito; gene == LOC11480; score == 1084; expect == 0.0; MEOW:AGgn0011480 (48%) |species == Worm; gene == rha-1; score == 894; expect == 0.0; MEOW:CEgn0015703 (41%) |species == Human; gene == DHX36; score == 479; expect == 3e-135; MEOW:HUgn0170506 (37%) |species == Weed; gene == At2g35920; score == 477; expect == 2e-134; MEOW:ATgn0007666 (37%) |species == rice; score == 474; expect == 2e-133; MEOW:gnl|TIGR|8362.m02557 (37%) |species == Weed; gene == At2g01130; score == 458; expect == 1e-128; MEOW:ATgn0011458 (35%) |species == rice; score == 454; expect == 4e-127; MEOW:gnl|TIGR|8350.m00188 (35%) |species == Human; gene == DHX57; score == 443; expect == 3e-124; MEOW:HUgn0090957 (35%) |species == Weed; gene == At1g48650; score == 440; expect == 2e-123; MEOW:ATgn0006942 (34%) |species == rice; score == 438; expect == 2e-122; MEOW:gnl|TIGR|8360.m04821 (34%) |species == Weed; gene == At1g58060; score == 432; expect == 7e-121; MEOW:ATgn0003528 (34%) |species == Human; gene == DHX29; score == 419; expect == 7e-117; MEOW:HUgn0054505 (32%) |species == Weed; gene == At1g58050; score == 402; expect == 5e-112; MEOW:ATgn0003526 (34%) |species == Human; gene == DHX30; score == 392; expect == 7e-109; MEOW:HUgn0022907 (33%) |species == rice; score == 392; expect == 2e-108; MEOW:gnl|TIGR|8352.m03282 (32%) |species == Yeast; gene == YLR419W; score == 253; expect == 7.4e-67; MEOW:SGgn0004411 (30%) |species == chimp; score == 251; expect == 4.2e-68; MEOW:sp|BAC78177|BAC78177 (30%) |species == Yeast; gene == PRP16; score == 243; expect == 1.1e-64; MEOW:SGgn0001794 (31%) |species == Yeast; gene == PRP43; score == 243; expect == 1.4e-64; MEOW:SGgn0003088 (28%) |species == Yeast; gene == PRP2; score == 241; expect == 4.2e-64; MEOW:SGgn0005294 (28%) |species == Yeast; gene == PRP22; score == 225; expect == 3.1e-59; MEOW:SGgn0000815 (29%) |species == Yeast; gene == DHR2; score == 218; expect == 6.5e-57; MEOW:SGgn0001561 (29%) } # EOR GENR { RETE|ID 1 HUgn0001661 CHR 1 13 DID 1 LocusLink:1661 MAP 1 13q21 NAM 1 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene ORG 1 Homo sapiens SYM 1 DHX9P ID|HUgn0001661 DID|LocusLink:1661 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC001226 SYM|DHX9P NAM|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene SYN|DDX9P CHR|13 PRD|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene MAP|13q21 DBL|SNP:1661 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:5560426 } # EOR GENR { RETE|ID 1 HUgn0001662 CHR 1 11 DID 1 LocusLink:1662 MAP 1 11q22-q23 NAM 1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 ORG 1 Homo sapiens SYM 1 DDX10 ID|HUgn0001662 DID|LocusLink:1662 ORG|Homo sapiens RSQ|REFSEQ:NM_004398 RPA|REFPROT:NP_004389 DBA|XM:NM_004398 |NA:AB040537 |NA:BC049217 |NA:U28042 |NA:none PAC|XP:NP_004389 SYM|DDX10 NAM|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 SYN|HRH-J8 FNC|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein, and it may be involved in ribosome assembly. Fusion of this gene and the |nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found |in the patients with de novo or therapy-related myeloid malignancies. CHR|11 PRD|DEAD box-10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=41706 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1662[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698403 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004398 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004398 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=41706 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27200 DBL|UNIGENE:Hs.41706 |OMIM:601235 |SNP:1662 MAP|11q22-q23 ENZ|ATP binding ; GO:0005524 |RNA helicase activity ; GO:0003724 |RNA binding ; GO:0003723 |ATP dependent helicase activity ; GO:0008026 HG|species == rat; score == 1307; expect == 0.0; MEOW:ref|XP_236263.2| (85%) |species == Human; gene == LOC286228; score == 1230; expect == 0.0; MEOW:HUgn0286228 (90%) |species == Fruitfly; gene == CG5800; score == 531; expect == 5e-151; MEOW:FBgn0030855 (51%) |species == Worm; gene == Y23H5B.6; score == 499; expect == 2e-141; MEOW:CEgn0028190 (51%) |species == Weed; gene == At5g54910; score == 485; expect == 5e-137; MEOW:ATgn0021668 (48%) |species == Yeast; gene == HCA4; score == 480; expect == 5e-136; MEOW:SGgn0003570 (51%) |species == rice; score == 396; expect == 9e-110; MEOW:gnl|TIGR|8355.m03122 (48%) |species == Mouse; gene == Ddx18; score == 380; expect == 9e-106; MEOW:MGgn0019535 (45%) |species == rice; score == 322; expect == 1.7e-87; MEOW:gnl|TIGR|8360.m05293 (39%) |species == Mosquito; gene == LOC13137; score == 298; expect == 4.3e-81; MEOW:AGgn0013137 (41%) |species == Mosquito; gene == LOC9871; score == 287; expect == 1.5e-77; MEOW:AGgn0009871 (39%) |species == Zfish; gene == ddx55; score == 277; expect == 8.2e-76; MEOW:ZFgn0002651 (34%) |species == Mosquito; score == 246; expect == 2.3e-65; MEOW:AGgn0000531 (32%) |species == ecoli; score == 195; expect == 1.2e-50; MEOW:ref|NP_417071.1| (36%) |species == ecoli; score == 186; expect == 5.7e-48; MEOW:ref|NP_415318.1| (33%) |species == ecoli; score == 178; expect == 1.2e-45; MEOW:ref|NP_417631.1| (31%) |species == ecoli; score == 171; expect == 1.5e-43; MEOW:ref|NP_415859.1| (35%) |species == ecoli; score == 169; expect == 5.5e-43; MEOW:ref|NP_418227.1| (30%) |species == chimp; score == 147; expect == 4.5e-37; MEOW:sp|BAB83886|BAB83886 (26%) |species == chimp; score == 147; expect == 4.5e-37; MEOW:sp|BAC78161|BAC78161 (26%) } # EOR GENR { RETE|ID 1 HUgn0001663 CHR 1 12 DID 1 LocusLink:1663 MAP 1 12p11 NAM 1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) ORG 1 Homo sapiens SYM 1 DDX11 ID|HUgn0001663 DID|LocusLink:1663 ORG|Homo sapiens RSQ|REFSEQ:NM_004399 |REFSEQ:NM_030653 |REFSEQ:NM_030655 RPA|REFPROT:NP_004390 |REFPROT:NP_085911 |REFPROT:NP_085913 DBA|XM:NM_004399 |XM:NM_030653 |XM:NM_030655 |NA:U35241 |NA:BC001591 |NA:BC011264 |NA:BC012834 |NA:BC047317 |NA:BC050069 |NA:BC050522 |NA:U33833 |NA:U75967 |NA:U75968 |NA:U75969 |NA:X99583 |NA:AK021703 |NA:AK024117 PAC|XP:NP_004390 |XP:NP_085911 |XP:NP_085913 SYM|DDX11 NAM|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) SYN|CHL1 |KRG2 |CHLR1 |MGC9335 FNC|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 |mitotic chromosome segregation ; GO:0000070 |G2/M transition of mitotic cell cycle ; GO:0000086 |S phase of mitotic cell cycle ; GO:0000084 |positive regulation of cell proliferation ; GO:0008284 |regulation of cell cycle ; GO:0000074 REAB|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are |putative RNA helicases. They are implicated in a number of cellular processes involving |alteration of RNA secondary structure such as translation initiation, nuclear and |mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution |patterns, some members of this family are believed to be involved in embryogenesis, |spermatogenesis, and cellular growth and division. This gene encodes a DEAD box |protein, which is an enzyme that possesses both ATPase and DNA helicase activities. |This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome |transmission fidelity and genome stability. This gene consists of 28 exons and its |alternative splicing generates at least 3 transcript variants. CHR|12 PRD|yeast CHL1 homolog |DEAD/H box-11 (CHL1-related helicase gene-1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443960 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1663[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698404 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_030655 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_030655 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443960 DBL|UNIGENE:Hs.443960 |OMIM:601150 |SNP:1663 MAP|12p11 ENZ|DNA helicase activity ; GO:0003678 |helicase activity ; GO:0004386 CEL|nucleolus ; GO:0005730 HG|species == Human; gene == LOC338812; score == 1380; expect == 0.0; MEOW:HUgn0338812 (91%) |species == Human; gene == LOC374440; score == 1362; expect == 0.0; MEOW:HUgn0374440 (85%) |species == rat; score == 993; expect == 0.0; MEOW:ref|XP_237570.2| (64%) |species == Mosquito; score == 461; expect == 8e-130; MEOW:AGgn0009606 (34%) |species == Worm; gene == M03C11.2; score == 380; expect == 2e-105; MEOW:CEgn0014041 (31%) |species == Fruitfly; gene == CG11403; score == 370; expect == 8e-103; MEOW:FBgn0026876 (37%) |species == Weed; gene == At1g79890; score == 369; expect == 4e-102; MEOW:ATgn0005895 (33%) |species == Yeast; gene == CHL1; score == 348; expect == 9.7e-96; MEOW:SGgn0005929 (30%) } # EOR GENR { RETE|ID 1 HUgn0001664 CHR 1 12 DID 1 LocusLink:1664 MAP 1 12p13 NAM 1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (CHL1-like helicase homolog, S. cerevisiae) ORG 1 Homo sapiens SYM 1 DDX12 ID|HUgn0001664 DID|LocusLink:1664 ORG|Homo sapiens DBA|NA:U33834 SYM|DDX12 NAM|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (CHL1-like helicase homolog, S. cerevisiae) SYN|CHLR2 CHR|12 PRD|DEAD/H box-12 |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide-12 |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (S.cerevisiae CHL1-like helicase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447869 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698405 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U33834 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U33834 DBL|UNIGENE:Hs.447869 |OMIM:601151 |SNP:1664 MAP|12p13 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 FNC|nucleotide-excision repair ; GO:0006289 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0001665 CHR 1 4 DID 1 LocusLink:1665 MAP 1 4p15.3 NAM 1 DEAH (Asp-Glu-Ala-His) box polypeptide 15 ORG 1 Homo sapiens SYM 1 DHX15 ID|HUgn0001665 DID|LocusLink:1665 ORG|Homo sapiens RSQ|REFSEQ:NM_001358 RPA|REFPROT:NP_001349 DBA|XM:NM_001358 |NA:AB001636 |NA:AF279891 |NA:AK055898 |NA:AK056726 |NA:BC035974 |NA:BC047577 |NA:none PAC|XP:NP_001349 SYM|DHX15 NAM|DEAH (Asp-Glu-Ala-His) box polypeptide 15 SYN|DBP1 |HRH2 |DDX15 |PRP43 |PrPp43p FNC|DEAH (Asp-Glu-Ala-His) box polypeptide 15 |nuclear mRNA splicing, via spliceosome ; GO:0000398 REAB|The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. CHR|4 PRD|DEAD/H box-15 |RNA helicase 2 |DEA/H (Asp-Glu-Ala-His) box polypeptide 15 |DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5683 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1665[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9756983 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001358 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001358 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5683 DBL|UNIGENE:Hs.5683 |OMIM:603403 |SNP:1665 MAP|4p15.3 ENZ|nucleotide binding ; GO:0000166 |nucleic acid binding ; GO:0003676 |ATP binding ; GO:0005524 |RNA helicase activity ; GO:0003724 |ATP dependent helicase activity ; GO:0008026 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1349; expect == 0.0; MEOW:ref|XP_214053.2| (98%) |species == Mouse; gene == Dhx15; score == 1274; expect == 0.0; MEOW:MGgn0003241 (98%) |species == Mosquito; gene == LOC21966; score == 1115; expect == 0.0; MEOW:AGgn0021966 (82%) |species == Fruitfly; gene == CG11107; score == 1103; expect == 0.0; MEOW:FBgn0033160 (81%) |species == Worm; gene == F56D2.6a; score == 1045; expect == 0.0; MEOW:CEgn0032192 (75%) |species == Worm; gene == F56D2.6b; score == 1009; expect == 0.0; MEOW:CEgn0032193 (76%) |species == rice; score == 970; expect == 0.0; MEOW:gnl|TIGR|8360.m01834 (71%) |species == Weed; gene == At3g62310; score == 966; expect == 0.0; MEOW:ATgn0014722 (72%) |species == Weed; gene == At2g47250; score == 954; expect == 0.0; MEOW:ATgn0011161 (71%) |species == Yeast; gene == PRP43; score == 843; expect == 0.0; MEOW:SGgn0003088 (65%) |species == Human; gene == DHX8; score == 630; expect == 1e-180; MEOW:HUgn0001659 (52%) |species == chimp; score == 608; expect == 7e-176; MEOW:sp|BAC78177|BAC78177 (51%) |species == Human; gene == DHX16; score == 602; expect == 4e-172; MEOW:HUgn0008449 (51%) |species == Human; gene == DHX38; score == 568; expect == 9e-162; MEOW:HUgn0009785 (45%) |species == Human; gene == DHX35; score == 523; expect == 1e-148; MEOW:HUgn0060625 (44%) |species == ecoli; score == 391; expect == 1e-108; MEOW:ref|NP_415931.1| (35%) } # EOR GENR { RETE|ID 1 HUgn0001666 CHR 1 8 DID 1 LocusLink:1666 MAP 1 8q21.3 NAM 1 2,4-dienoyl CoA reductase 1, mitochondrial ORG 1 Homo sapiens SYM 1 DECR1 ID|HUgn0001666 DID|LocusLink:1666 ORG|Homo sapiens RSQ|REFSEQ:NM_001359 RPA|REFPROT:NP_001350 DBA|XM:NM_001359 |NA:AC004612 |NA:AF049895 |NA:AF069291 |NA:U78302 |NA:L26050 |NA:U49352 |NA:none PAC|XP:NP_001350 SYM|DECR1 NAM|2,4-dienoyl CoA reductase 1, mitochondrial SYN|DECR |NADPH FNC|2,4-dienoyl CoA reductase 1 precursor |metabolism ; GO:0008152 REAB|This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. CHR|8 PRD|4-enoyl-CoA reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414754 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1666[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:453934 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001359 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001359 |http://www.geneclinics.org/query?mim=222745 DBL|UNIGENE:Hs.414754 |OMIM:222745 |SNP:1666 ENZ|EC:1.3.1.34 |2,4-dienoyl-CoA reductase (NADPH) activity ; GO:0008670 |oxidoreductase activity ; GO:0016491 MAP|8q21.3 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Decr1; score == 562; expect == 1e-160; MEOW:MGgn0016525 (82%) |species == rat; score == 557; expect == 3e-159; MEOW:ref|NP_476545.1| (81%) |species == Worm; gene == F53C11.3; score == 265; expect == 2.4e-71; MEOW:CEgn0011615 (52%) |species == Worm; gene == T05C12.3; score == 242; expect == 2.1e-64; MEOW:CEgn0015473 (47%) |species == Worm; gene == W01C9.4; score == 227; expect == 5.5e-60; MEOW:CEgn0017316 (46%) |species == Human; gene == PECR; score == 157; expect == 6.8e-39; MEOW:HUgn0055825 (34%) |species == Human; gene == DECR2; score == 154; expect == 4.1e-38; MEOW:HUgn0026063 (35%) |species == Yeast; gene == SPS19; score == 134; expect == 5.9e-32; MEOW:SGgn0005146 (35%) } # EOR GENR { RETE|ID 1 HUgn0001667 CHR 1 8 DID 1 LocusLink:1667 MAP 1 8p23.2-p23.1 NAM 1 defensin, alpha 1, myeloid-related sequence ORG 1 Homo sapiens SYM 1 DEFA1 ID|HUgn0001667 DID|LocusLink:1667 ORG|Homo sapiens RSQ|REFSEQ:NM_004084 RPA|REFPROT:NP_004075 DBA|XM:NM_004084 |NA:L12690 |NA:BC027917 |NA:M21130 |NA:M26602 |NA:X52053 |NA:none PAC|XP:NP_004075 SYM|DEFA1 NAM|defensin, alpha 1, myeloid-related sequence SYN|MRS |DEF1 |HP-1 |HNP-1 FNC|defensin, alpha 1, preproprotein |xenobiotic metabolism ; GO:0006805 |defense response ; GO:0006952 REAB|Defensins are a family of microbicidal and cytotoxic peptides thought to be involved |in host defense. They are abundant in the granules of neutrophils and also found |in the epithelia of mucosal surfaces such as those of the intestine, respiratory |tract, urinary tract, and vagina. Members of the defensin family are highly similar |in protein sequence and distinguished by a conserved cysteine motif. Several alpha |defensin genes appear to be clustered on chromosome 8. The protein encoded by this |gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and |likely plays a role in phagocyte-mediated host defense. It differs from defensin, |alpha 3 by only one amino acid. CHR|8 PRD|myeloid-related sequence URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511887 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120745 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004084 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004084 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511887 DBL|UNIGENE:Hs.511887 |OMIM:125220 |SNP:1667 MAP|8p23.2-p23.1 ENZ|antifungal peptide activity ; GO:0003799 CEL|extracellular ; GO:0005576 HG|species == Human; gene == DEFA3; score == 162; expect == 2.0e-41; MEOW:HUgn0001668 (98%) } # EOR GENR { RETE|ID 1 HUgn0001668 CHR 1 8 DID 1 LocusLink:1668 MAP 1 8pter-p23.3 NAM 1 defensin, alpha 3, neutrophil-specific ORG 1 Homo sapiens SYM 1 DEFA3 ID|HUgn0001668 DID|LocusLink:1668 ORG|Homo sapiens RSQ|REFSEQ:NM_005217 RPA|REFPROT:NP_005208 DBA|XM:NM_005217 |NA:L12691 |NA:M21131 |NA:M23281 |NA:X13621 |NA:none PAC|XP:NP_005208 SYM|DEFA3 NAM|defensin, alpha 3, neutrophil-specific SYN|DEF3 |HNP3 |HP-3 |HNP-3 FNC|defensin, alpha 3, preproprotein REAB|Defensins are a family of microbicidal and cytotoxic peptides thought to be involved |in host defense. They are abundant in the granules of neutrophils and also found |in the epithelia of mucosal surfaces such as those of the intestine, respiratory |tract, urinary tract, and vagina. Members of the defensin family are highly similar |in protein sequence and distinguished by a conserved cysteine motif. Several alpha |defensin genes appear to be clustered on chromosome 8. The protein encoded by this |gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and |likely plays a role in phagocyte-mediated host defense. It differs from defensin, |alpha 3 by only one amino acid. CHR|8 PRD|human neutrophil peptide 3 |defensin 3, neutrophil-specific URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=294176 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136416 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005217 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005217 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27239 DBL|UNIGENE:Hs.294176 |OMIM:604522 |SNP:1668 MAP|8pter-p23.3 HG|species == Human; gene == DEFA1; score == 162; expect == 2.0e-41; MEOW:HUgn0001667 (98%) } # EOR GENR { RETE|ID 1 HUgn0001669 CHR 1 8 DID 1 LocusLink:1669 MAP 1 8p23 NAM 1 defensin, alpha 4, corticostatin ORG 1 Homo sapiens SYM 1 DEFA4 ID|HUgn0001669 DID|LocusLink:1669 ORG|Homo sapiens RSQ|REFSEQ:NM_001925 RPA|REFPROT:NP_001916 DBA|XM:NM_001925 |NA:U18745 |NA:X65977 |NA:none PAC|XP:NP_001916 SYM|DEFA4 NAM|defensin, alpha 4, corticostatin SYN|HP4 |DEF4 |HP-4 |HNP-4 FNC|defensin, alpha 4, preproprotein |xenobiotic metabolism ; GO:0006805 |defense response ; GO:0006952 REAB|Defensins are a family of microbicidal and cytotoxic peptides thought to be involved |in host defense. They are abundant in the granules of neutrophils and also found |in the epithelia of mucosal surfaces such as those of the intestine, respiratory |tract, urinary tract, and vagina. Members of the defensin family are highly similar |in protein sequence and distinguished by a conserved cysteine motif. Several alpha |defensin genes are clustered on chromosome 8. This gene differs from other genes |of this family by an extra 83-base segment that is apparently the result of a recent |duplication within the coding region. The protein encoded by this gene, defensin, |alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits |corticotropin stimulated corticosterone production. CHR|8 PRD|corticostatin |corticostatin HP4 precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2582 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138312 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001925 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001925 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27240 DBL|UNIGENE:Hs.2582 |OMIM:601157 |SNP:1669 MAP|8p23 ENZ|antifungal peptide activity ; GO:0003799 |calcium channel regulator activity ; GO:0005246 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001670 CHR 1 8 DID 1 LocusLink:1670 MAP 1 8pter-p21 NAM 1 defensin, alpha 5, Paneth cell-specific ORG 1 Homo sapiens SYM 1 DEFA5 ID|HUgn0001670 DID|LocusLink:1670 ORG|Homo sapiens RSQ|REFSEQ:NM_021010 RPA|REFPROT:NP_066290 DBA|XM:NM_021010 |NA:M97925 |NA:none PAC|XP:NP_066290 SYM|DEFA5 NAM|defensin, alpha 5, Paneth cell-specific SYN|DEF5 |HD-5 FNC|defensin, alpha 5, preproprotein |xenobiotic metabolism ; GO:0006805 |defense response ; GO:0006952 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Defensins are a family of microbicidal and cytotoxic peptides thought to be involved |in host defense. They are abundant in the granules of neutrophils and also found |in the epithelia of mucosal surfaces such as those of the intestine, respiratory |tract, urinary tract, and vagina. Members of the defensin family are highly similar |in protein sequence and distinguished by a conserved cysteine motif. Several of |the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded |by this gene, defensin, alpha 5, is highly expressed in the secretory granules of |Paneth cells of the ileum. CHR|8 PRD|defensin 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=72887 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1670[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136415 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021010 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021010 DBL|UNIGENE:Hs.72887 |OMIM:600472 |SNP:1670 MAP|8pter-p21 ENZ|antifungal peptide activity ; GO:0003799 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001671 CHR 1 8 DID 1 LocusLink:1671 MAP 1 8pter-p21 NAM 1 defensin, alpha 6, Paneth cell-specific ORG 1 Homo sapiens SYM 1 DEFA6 ID|HUgn0001671 DID|LocusLink:1671 ORG|Homo sapiens RSQ|REFSEQ:NM_001926 RPA|REFPROT:NP_001917 DBA|XM:NM_001926 |NA:AF314060 |NA:U33317 |NA:M98331 |NA:none PAC|XP:NP_001917 SYM|DEFA6 NAM|defensin, alpha 6, Paneth cell-specific SYN|DEF6 |HD-6 FNC|defensin, alpha 6, preproprotein |xenobiotic metabolism ; GO:0006805 |defense response ; GO:0006952 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Defensins are a family of microbicidal and cytotoxic peptides thought to be involved |in host defense. They are abundant in the granules of neutrophils and also found |in the epithelia of mucosal surfaces such as those of the intestine, respiratory |tract, urinary tract, and vagina. Members of the defensin family are highly similar |in protein sequence and distinguished by a conserved cysteine motif. Several alpha |defensin genes appear to be clustered on chromosome 8. The protein encoded by this |gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth |cells of the small intestine, and likely plays a role in host defense of human bowel. CHR|8 PRD|defensin 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=711 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136838 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001926 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001926 DBL|UNIGENE:Hs.711 |OMIM:600471 |SNP:1671 MAP|8pter-p21 ENZ|antifungal peptide activity ; GO:0003799 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001672 CHR 1 8 DID 1 LocusLink:1672 MAP 1 8p23.2-p23.1 NAM 1 defensin, beta 1 ORG 1 Homo sapiens SYM 1 DEFB1 ID|HUgn0001672 DID|LocusLink:1672 ORG|Homo sapiens RSQ|REFSEQ:NM_005218 RPA|REFPROT:NP_005209 DBA|XM:NM_005218 |NA:U50930 |NA:U50931 |NA:BC047677 |NA:U73945 |NA:X92744 |NA:Z50788 |NA:none PAC|XP:NP_005209 SYM|DEFB1 NAM|defensin, beta 1 SYN|BD1 |HBD1 |HBD-1 |DEFB-1 |DEFB101 FNC|defensin, beta 1, preproprotein |xenobiotic metabolism ; GO:0006805 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |immune response ; GO:0006955 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. |Members of the defensin family are highly similar in protein sequence. This gene |encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance |of epithelial surfaces to microbial colonization. This gene maps in close proximity |to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis |of cystic fibrosis. CHR|8 PRD|beta defensin 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32949 |http://www.gdb.org/gdb-bin/genera/accno?GDB:677453 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005218 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005218 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=32949 DBL|UNIGENE:Hs.32949 |OMIM:602056 |SNP:1672 MAP|8p23.2-p23.1 ENZ|antimicrobial peptide activity ; GO:0003795 CEL|extracellular ; GO:0005576 HG|species == chimp; score == 126; expect == 3.1e-32; MEOW:sp|Q09753|BD01_HUMAN (100%) |species == chimp; score == 124; expect == 2.0e-31; MEOW:sp|Q95M69|Q95M69 (98%) } # EOR GENR { RETE|ID 1 HUgn0001673 CHR 1 8 DID 1 LocusLink:1673 MAP 1 8p23.1-p22 NAM 1 defensin, beta 4 ORG 1 Homo sapiens SYM 1 DEFB4 ID|HUgn0001673 DID|LocusLink:1673 ORG|Homo sapiens RSQ|REFSEQ:NM_004942 RPA|REFPROT:NP_004933 DBA|XM:NM_004942 |NA:AF040153 |NA:AF071216 |NA:AJ000152 |NA:Z71389 |NA:none PAC|XP:NP_004933 SYM|DEFB4 NAM|defensin, beta 4 SYN|SAP1 |DEFB2 |HBD-2 |DEFB-2 |DEFB102 FNC|defensin, beta 4, precursor |response to pest/pathogen/parasite ; GO:0009613 |xenobiotic metabolism ; GO:0006805 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |immune response ; GO:0006955 REAB|Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. |Members of the defensin family are highly similar in protein sequence. This gene |encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. CHR|8 PRD|defensin, beta 2 |skin-antimicrobial peptide 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=105924 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6860470 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004942 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004942 DBL|UNIGENE:Hs.105924 |OMIM:602215 |SNP:1673 MAP|8p23.1-p22 ENZ|antimicrobial peptide activity ; GO:0003795 CEL|extracellular ; GO:0005576 } # EOR GENR { RETE|ID 1 HUgn0001674 CHR 1 2 DID 1 LocusLink:1674 MAP 1 2q35 NAM 1 desmin ORG 1 Homo sapiens SYM 1 DES ID|HUgn0001674 DID|LocusLink:1674 ORG|Homo sapiens RSQ|REFSEQ:NM_001927 RPA|REFPROT:NP_001918 DBA|XM:NM_001927 |NA:AF189280 |NA:AF189281 |NA:M63391 |NA:AF055081 |NA:AF055082 |NA:AF055083 |NA:AF137053 |NA:AF167579 |NA:AJ132926 |NA:AK022087 |NA:BC010072 |NA:BC032116 |NA:U59167 |NA:none PAC|XP:NP_001918 SYM|DES NAM|desmin SYN|CSM1 |CSM2 |CMD1I |FLJ12025 FNC|desmin |regulation of heart rate ; GO:0008016 |cytoskeleton organization and biogenesis ; GO:0007010 |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|This gene encodes a muscle-specific class III intermediate filament. Homopolymers |of this protein form a stable intracytoplasmic filamentous network connecting myofibrils |to each other and to the plasma membrane. Mutations in this gene are associated |with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and |with distal myopathies. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279604 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1674[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119841 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001927 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001927 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=279604 |http://www.geneclinics.org/query?mim=125660 DBL|UNIGENE:Hs.279604 |OMIM:125660 |SNP:1674 |UWCM:119841.html MAP|2q35 PHP|Cardiomyopathy, dilated, 1I |Myopathy, desmin-related, cardioskeletal ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|intermediate filament ; GO:0005882 |cytoskeleton ; GO:0005856 HG|species == rat; score == 685; expect == 0.0; MEOW:ref|NP_071976.1| (96%) |species == Mouse; gene == Des; score == 679; expect == 0.0; MEOW:MGgn0003389 (96%) |species == Zfish; gene == desm; score == 578; expect == 3e-165; MEOW:ZFgn0000055 (68%) |species == Zfish; gene == vim; score == 486; expect == 1e-137; MEOW:ZFgn0002403 (55%) |species == Human; gene == VIM; score == 478; expect == 2e-135; MEOW:HUgn0007431 (65%) |species == Human; gene == GFAP; score == 452; expect == 2e-127; MEOW:HUgn0002670 (60%) |species == Human; gene == PRPH; score == 422; expect == 2e-118; MEOW:HUgn0005630 (63%) |species == Worm; gene == ifb-1; score == 168; expect == 8.4e-42; MEOW:CEgn0026027 (30%) |species == Fruitfly; gene == LamC; score == 166; expect == 2.8e-41; MEOW:FBgn0010397 (30%) |species == Worm; gene == ifa-4; score == 158; expect == 6.7e-39; MEOW:CEgn0013257 (30%) |species == Worm; gene == ifa-2; score == 154; expect == 1.0e-37; MEOW:CEgn0000959 (30%) |species == chimp; score == 129; expect == 4.9e-32; MEOW:sp|Q9GJW4|Q9GJW4 (30%) } # EOR GENR { RETE|ID 1 HUgn0001675 CHR 1 19 DID 1 LocusLink:1675 MAP 1 19p13.3 NAM 1 D component of complement (adipsin) ORG 1 Homo sapiens SYM 1 DF ID|HUgn0001675 DID|LocusLink:1675 ORG|Homo sapiens RSQ|REFSEQ:NM_001928 RPA|REFPROT:NP_001919 DBA|XM:NM_001928 |NA:BC034529 |NA:BC040146 |NA:BC051001 |NA:M84526 |NA:none PAC|XP:NP_001919 SYM|DF NAM|D component of complement (adipsin) SYN|ADN FNC|adipsin/complement factor D precursor |proteolysis and peptidolysis ; GO:0006508 |complement activation, alternative pathway ; GO:0006957 REAB|Complement factor D is a member of the trypsin family of peptidases. DF is a component |of the alternative complement pathway best known for its role in humoral suppression |of infectious agents. Adipsin is a serine protease that is secreted by adipocytes |into the bloodstream. Adipsin is equivalent to complement factor D and has a high |level of expression in fat. This suggests a role for adipose tissue in immune system |biology. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155597 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1675[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132645 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001928 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001928 DBL|UNIGENE:Hs.155597 |OMIM:134350 |SNP:1675 ENZ|EC:3.4.21.46 |complement factor D activity ; GO:0003817 |trypsin activity ; GO:0004295 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|19p13.3 HG|species == rat; score == 330; expect == 2.9e-91; MEOW:ref|XP_343170.1| (67%) |species == Mouse; gene == Adn; score == 324; expect == 1.8e-89; MEOW:MGgn0000176 (65%) |species == Human; gene == GZMM; score == 179; expect == 1.1e-45; MEOW:HUgn0003004 (42%) |species == Human; gene == GZMA; score == 176; expect == 1.1e-44; MEOW:HUgn0003001 (41%) |species == Human; gene == GZMK; score == 171; expect == 3.9e-43; MEOW:HUgn0003003 (41%) |species == Human; gene == KLK8; score == 165; expect == 2.1e-41; MEOW:HUgn0011202 (38%) |species == Human; gene == KLK6; score == 164; expect == 3.6e-41; MEOW:HUgn0005653 (39%) |species == Human; gene == KLK13; score == 157; expect == 5.8e-39; MEOW:HUgn0026085 (37%) |species == Human; gene == KLK15; score == 152; expect == 1.4e-37; MEOW:HUgn0055554 (36%) |species == Human; gene == CMA1; score == 151; expect == 4.7e-37; MEOW:HUgn0001215 (36%) |species == Human; gene == KLK2; score == 151; expect == 3.2e-37; MEOW:HUgn0003817 (38%) |species == Human; gene == PRSS1; score == 151; expect == 3.2e-37; MEOW:HUgn0005644 (35%) |species == Human; gene == GZMH; score == 148; expect == 2.3e-36; MEOW:HUgn0002999 (38%) |species == Mosquito; score == 146; expect == 7.6e-36; MEOW:AGgn0018367 (35%) |species == Mosquito; score == 146; expect == 7.6e-36; MEOW:AGgn0026990 (36%) |species == Mosquito; gene == LOC18384; score == 141; expect == 1.4e-34; MEOW:AGgn0018384 (35%) |species == Mosquito; score == 138; expect == 1.6e-33; MEOW:AGgn0018316 (35%) |species == Mosquito; score == 135; expect == 1.3e-32; MEOW:AGgn0006721 (33%) |species == Mosquito; gene == LOC10881; score == 132; expect == 8.7e-32; MEOW:AGgn0010881 (35%) |species == Fruitfly; gene == Try29F; score == 129; expect == 7.7e-31; MEOW:FBgn0015316 (35%) } # EOR GENR { RETE|ID 1 HUgn0001676 CHR 1 1 DID 1 LocusLink:1676 MAP 1 1p36.3-p36.2 NAM 1 DNA fragmentation factor, 45kDa, alpha polypeptide ORG 1 Homo sapiens SYM 1 DFFA ID|HUgn0001676 DID|LocusLink:1676 ORG|Homo sapiens RSQ|REFSEQ:NM_004401 RPA|REFPROT:NP_004392 DBA|XM:NM_004401 |NA:AF087573 |NA:BC000037 |NA:BC007112 |NA:BC007721 |NA:BT006980 |NA:U91985 |NA:none PAC|XP:NP_004392 SYM|DFFA NAM|DNA fragmentation factor, 45kDa, alpha polypeptide SYN|DFF1 |ICAD |DFF-45 FNC|DNA fragmentation factor, 45 kD, alpha polypeptide |DNA fragmentation ; GO:0006309 |intracellular signaling cascade ; GO:0007242 |apoptosis ; GO:0006915 REAB|Apoptosis is a cell death process that removes toxic and/or useless cells during |mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation |of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal |units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) |and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA |fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. |The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. | DFFB has been found to trigger both DNA fragmentation and chromatin condensation |during apoptosis. CHR|1 PRD|DFF45 |DNA fragmentation factor, 45 kD, alpha subunit |DNA fragmentation factor, 45 kD, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=484782 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1676[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9315112 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004401 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004401 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=484782 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.484782 |OMIM:601882 |SNP:1676 MAP|1p36.3-p36.2 ENZ|caspase-activated deoxyribonuclease activity ; GO:0004537 |apoptosis regulator activity ; GO:0016329 CEL|cytosol ; GO:0005829 |nucleus ; GO:0005634 HG|species == rat; score == 384; expect == 4e-107; MEOW:ref|NP_446131.1| (79%) |species == Mouse; gene == Dffa; score == 382; expect == 1e-106; MEOW:MGgn0003390 (78%) } # EOR GENR { RETE|ID 1 HUgn0001677 CHR 1 1 DID 1 LocusLink:1677 MAP 1 1p36.3 NAM 1 DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) ORG 1 Homo sapiens SYM 1 DFFB ID|HUgn0001677 DID|LocusLink:1677 ORG|Homo sapiens RSQ|REFSEQ:NM_004402 RPA|REFPROT:NP_004393 DBA|XM:NM_004402 |NA:AB013918 |NA:AB028911 |NA:AB028912 |NA:AB028913 |NA:AF039210 |NA:AF064019 |NA:AF409060 |NA:AF409061 |NA:AF409062 |NA:BC032827 |NA:BC048797 |NA:none PAC|XP:NP_004393 SYM|DFFB NAM|DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) SYN|CAD |CPAN |DFF2 |DFF40 |DFF-40 FNC|DNA fragmentation factor, 40 kD, beta polypeptide REAB|Apoptosis is a cell death process that removes toxic and/or useless cells during |mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation |of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal |units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) |and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA |fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. |The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. | DFFB has been found to trigger both DNA fragmentation and chromatin condensation |during apoptosis. CHR|1 PRD|caspase-activated DNase |DNA fragmentation factor, 40 kD, beta subunit |DNA fragmentation factor, 40 kD, beta polypeptide (caspase-activated DNase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=133089 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1677[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9315113 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004402 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004402 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=133089 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04210 DBL|UNIGENE:Hs.133089 |OMIM:601883 |SNP:1677 MAP|1p36.3 HG|species == Mouse; gene == Dffb; score == 545; expect == 9e-156; MEOW:MGgn0003410 (76%) |species == rat; score == 540; expect == 6e-154; MEOW:ref|NP_445814.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0001678 CHR 1 X DID 1 LocusLink:1678 MAP 1 Xq22.1 NAM 1 translocase of inner mitochondrial membrane 8 homolog A (yeast) ORG 1 Homo sapiens SYM 1 TIMM8A ID|HUgn0001678 DID|LocusLink:1678 ORG|Homo sapiens RSQ|REFSEQ:NM_004085 RPA|REFPROT:NP_004076 DBA|XM:NM_004085 |NA:BC006994 |NA:BC015093 |NA:U66035 |NA:none PAC|XP:NP_004076 SYM|TIMM8A NAM|translocase of inner mitochondrial membrane 8 homolog A (yeast) SYN|DDP |MTS |DDP1 |DFN1 FNC|translocase of inner mitochondrial membrane 8 homolog A |mitochondrial translocation ; GO:0006628 |protein targeting ; GO:0006605 |hearing ; GO:0007605 |neurogenesis ; GO:0007399 REAB|This translocase has similarity to yeast mitochondrial proteins that are involved |in the import of metabolite transporters from the cytoplasm into the mitochondrial |inner membrane. The gene is mutated in Deafness Dystonia Syndrome (MTS/DFN-1) and |it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective |mitochondrial protein import system. CHR|X PRD|deafness/dystonia peptide |translocase of inner mitochondrial membrane 8 (yeast) homolog A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447877 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1678[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119090 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004085 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004085 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=447877 |http://www.geneclinics.org/query?mim=300356 |http://alt-www.uia.ac.be/dnalab/hhh/ DBL|UNIGENE:Hs.447877 |OMIM:300356 |SNP:1678 |UWCM:119090.html MAP|Xq22.1 PHP|Deafness, X-linked 1, progressive |Jensen syndrome |Mohr-Tranebjaerg syndrome ENZ|protein translocase activity ; GO:0015450 CEL|mitochondrion ; GO:0005739 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Timm8a; score == 183; expect == 1.2e-47; MEOW:MGgn0013555 (94%) |species == rat; score == 180; expect == 1.2e-46; MEOW:ref|NP_445822.1| (94%) |species == rat; score == 151; expect == 6.1e-38; MEOW:ref|XP_345980.1| (89%) |species == rat; score == 144; expect == 4.1e-35; MEOW:ref|XP_344464.1| (80%) } # EOR GENR { RETE|ID 1 HUgn0001679 CHR 1 X DID 1 LocusLink:1679 MAP 1 Xq22 NAM 1 deafness, X-linked 2, perceptive, congenital ORG 1 Homo sapiens SYM 1 DFN2 ID|HUgn0001679 DID|LocusLink:1679 ORG|Homo sapiens SYM|DFN2 NAM|deafness, X-linked 2, perceptive, congenital CHR|X PRD|deafness 2, perceptive, congenital DBL|OMIM:304500 MAP|Xq22 PHP|Deafness, X-linked 2, perceptive congenital URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119091 |http://alt-www.uia.ac.be/dnalab/hhh/ } # EOR GENR { RETE|ID 1 HUgn0001680 CHR 1 X DID 1 LocusLink:1680 MAP 1 Xp21.2 NAM 1 deafness, X-linked 4, congenital sensorineural ORG 1 Homo sapiens SYM 1 DFN4 ID|HUgn0001680 DID|LocusLink:1680 ORG|Homo sapiens SYM|DFN4 NAM|deafness, X-linked 4, congenital sensorineural CHR|X PRD|deafness 4, congenital sensorineural DBL|OMIM:300030 MAP|Xp21.2 PHP|Deafness, X-linked 4, congenital sensorineural URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433255 |http://alt-www.uia.ac.be/dnalab/hhh/ } # EOR GENR { RETE|ID 1 HUgn0001681 DID 1 LocusLink:1681 NAM 1 deafness, X-linked 5 ORG 1 Homo sapiens SYM 1 DFN5 ID|HUgn0001681 DID|LocusLink:1681 ORG|Homo sapiens SYM|DFN5 NAM|deafness, X-linked 5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:696341 } # EOR GENR { RETE|ID 1 HUgn0001682 CHR 1 X DID 1 LocusLink:1682 MAP 1 Xp22 NAM 1 deafness, X-linked 6, sensorineural ORG 1 Homo sapiens SYM 1 DFN6 ID|HUgn0001682 DID|LocusLink:1682 ORG|Homo sapiens SYM|DFN6 NAM|deafness, X-linked 6, sensorineural CHR|X DBL|OMIM:300066 MAP|Xp22 PHP|Deafness, X-linked 6, sensorineural URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1320698 } # EOR GENR { RETE|ID 1 HUgn0001684 DID 1 LocusLink:1684 NAM 1 deafness, X-linked 8, progressive ORG 1 Homo sapiens SYM 1 DFN8 ID|HUgn0001684 DID|LocusLink:1684 ORG|Homo sapiens SYM|DFN8 NAM|deafness, X-linked 8, progressive URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1320713 } # EOR GENR { RETE|ID 1 HUgn0001686 CHR 1 19 DID 1 LocusLink:1686 MAP 1 19q13 NAM 1 deafness, autosomal dominant 4 ORG 1 Homo sapiens SYM 1 DFNA4 ID|HUgn0001686 DID|LocusLink:1686 ORG|Homo sapiens SYM|DFNA4 NAM|deafness, autosomal dominant 4 CHR|19 DBL|OMIM:600652 MAP|19q13 PHP|Deafness, autosomal dominant 4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:606540 } # EOR GENR { RETE|ID 1 HUgn0001687 CHR 1 7 DID 1 LocusLink:1687 MAP 1 7p15 NAM 1 deafness, autosomal dominant 5 ORG 1 Homo sapiens SYM 1 DFNA5 ID|HUgn0001687 DID|LocusLink:1687 ORG|Homo sapiens RSQ|REFSEQ:NM_004403 RPA|REFPROT:NP_004394 DBA|XM:NM_004403 |XM:NM_004403 |NA:AC003093 |NA:AF007790 |NA:AF073308 |NA:AF075171 |NA:AF131765 |NA:AK094714 |NA:BC019689 |NA:none PAC|XP:NP_004394 |XP:NP_004394 SYM|DFNA5 NAM|deafness, autosomal dominant 5 SYN|ICERE-1 FNC|deafness, autosomal dominant 5 protein |hearing ; GO:0007605 REAB|Hearing impairment is a heterogeneous condition with over 40 loci described. The |protein encoded by this gene is expressed in fetal cochlea, however, its function |is not known. Nonsyndromic hearing impairment is associated with a mutation in this |gene. CHR|7 PRD|nonsyndromic hearing impairment protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=304365 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1687[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:636174 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004403 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004403 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=304365 |http://www.geneclinics.org/query?mim=600994 DBL|UNIGENE:Hs.304365 |OMIM:600994 |SNP:1687 MAP|7p15 PHP|Deafness, autosomal dominant 5 HG|species == Mouse; gene == Dfna5h; score == 694; expect == 0.0; MEOW:MGgn0014649 (71%) |species == rat; score == 605; expect == 2e-173; MEOW:ref|XP_231759.2| (64%) } # EOR GENR { RETE|ID 1 HUgn0001689 CHR 1 1 DID 1 LocusLink:1689 MAP 1 1q21-q23 NAM 1 deafness, autosomal dominant 7 ORG 1 Homo sapiens SYM 1 DFNA7 ID|HUgn0001689 DID|LocusLink:1689 ORG|Homo sapiens SYM|DFNA7 NAM|deafness, autosomal dominant 7 CHR|1 DBL|OMIM:601412 MAP|1q21-q23 PHP|Deafness, autosomal dominant 7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:666400 } # EOR GENR { RETE|ID 1 HUgn0001690 CHR 1 14 DID 1 LocusLink:1690 MAP 1 14q12-q13 NAM 1 coagulation factor C homolog, cochlin (Limulus polyphemus) ORG 1 Homo sapiens SYM 1 COCH ID|HUgn0001690 DID|LocusLink:1690 ORG|Homo sapiens RSQ|REFSEQ:NM_004086 RPA|REFPROT:NP_004077 DBA|XM:NM_004086 |NA:AF006740 |NA:AK123362 |NA:AK130273 |NA:AY358900 |NA:BC000640 |NA:BC007230 |NA:BC018827 |NA:none PAC|XP:NP_004077 SYM|COCH NAM|coagulation factor C homolog, cochlin (Limulus polyphemus) SYN|DFNA9 |DFNA31 |COCH5B2 |COCH-5B2 FNC|coagulation factor C homolog, cochlin precursor |hearing ; GO:0007605 REAB|The protein encoded by this gene is highly conserved in human, mouse, and chicken, |showing 94% and 79% amino acid identity of human to mouse and chicken sequences, |respectively. Hybridization to this gene was detected in spindle-shaped cells located |along nerve fibers between the auditory ganglion and sensory epithelium. These cells |accompany neurites at the habenula perforata, the opening through which neurites |extend to innervate hair cells. This and the pattern of expression of this gene |in chicken inner ear paralleled the histologic findings of acidophilic deposits, |consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 |(autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that |cause DFNA9 have been reported in this gene. CHR|14 PRD|deafness, autosomal dominant 31 |coagulation factor C (Limulus polyphemus homolog); cochlin |coagulation factor C (Limulus polyphemus) homology (cochlin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=21016 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1690[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696345 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004086 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=21016 |http://www.geneclinics.org/query?mim=603196 DBL|UNIGENE:Hs.21016 |OMIM:603196 |SNP:1690 MAP|14q12-q13 PHP|Deafness, autosomal dominant 9 |Meniere disease HG|species == Mouse; gene == Coch; score == 1025; expect == 0.0; MEOW:MGgn0001516 (95%) |species == Human; gene == VIT; score == 375; expect == 3e-104; MEOW:HUgn0005212 (46%) |species == rat; score == 287; expect == 1.2e-77; MEOW:ref|XP_233802.2| (46%) } # EOR GENR { RETE|ID 1 HUgn0001694 CHR 1 2 DID 1 LocusLink:1694 MAP 1 2q23-q24 NAM 1 deafness, autosomal dominant 16 ORG 1 Homo sapiens SYM 1 DFNA16 ID|HUgn0001694 DID|LocusLink:1694 ORG|Homo sapiens SYM|DFNA16 NAM|deafness, autosomal dominant 16 CHR|2 DBL|OMIM:603964 MAP|2q23-q24 PHP|Deafness, autosomal dominant 16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9787106 } # EOR GENR { RETE|ID 1 HUgn0001696 CHR 1 10 DID 1 LocusLink:1696 MAP 1 10 NAM 1 deafness, autosomal dominant 19 ORG 1 Homo sapiens SYM 1 DFNA19 ID|HUgn0001696 DID|LocusLink:1696 ORG|Homo sapiens SYM|DFNA19 NAM|deafness, autosomal dominant 19 CHR|10 MAP|10 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862910 } # EOR GENR { RETE|ID 1 HUgn0001697 CHR 1 14 DID 1 LocusLink:1697 MAP 1 14q12 NAM 1 deafness, autosomal recessive 5 ORG 1 Homo sapiens SYM 1 DFNB5 ID|HUgn0001697 DID|LocusLink:1697 ORG|Homo sapiens SYM|DFNB5 NAM|deafness, autosomal recessive 5 CHR|14 DBL|OMIM:600792 MAP|14q12 PHP|Deafness, autosomal recessive 5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:636176 } # EOR GENR { RETE|ID 1 HUgn0001698 CHR 1 3 DID 1 LocusLink:1698 MAP 1 3p21-p14 NAM 1 deafness, autosomal recessive 6 ORG 1 Homo sapiens SYM 1 DFNB6 ID|HUgn0001698 DID|LocusLink:1698 ORG|Homo sapiens SYM|DFNB6 NAM|deafness, autosomal recessive 6 CHR|3 DBL|OMIM:600971 MAP|3p21-p14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:636177 } # EOR GENR { RETE|ID 1 HUgn0001705 CHR 1 7 DID 1 LocusLink:1705 MAP 1 7q34-q36 NAM 1 deafness, autosomal recessive 13 ORG 1 Homo sapiens SYM 1 DFNB13 ID|HUgn0001705 DID|LocusLink:1705 ORG|Homo sapiens SYM|DFNB13 NAM|deafness, autosomal recessive 13 CHR|7 DBL|OMIM:603098 MAP|7q34-q36 PHP|Deafness, autosomal recessive 13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1320700 } # EOR GENR { RETE|ID 1 HUgn0001706 CHR 1 7 DID 1 LocusLink:1706 MAP 1 7q31 NAM 1 deafness, autosomal recessive 14 ORG 1 Homo sapiens SYM 1 DFNB14 ID|HUgn0001706 DID|LocusLink:1706 ORG|Homo sapiens SYM|DFNB14 NAM|deafness, autosomal recessive 14 CHR|7 DBL|OMIM:603678 MAP|7q31 PHP|Deafness, autosomal recessive 14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1320701 } # EOR GENR { RETE|ID 1 HUgn0001707 CHR 1 3 DID 1 LocusLink:1707 MAP 1 3 or 19 NAM 1 deafness, autosomal recessive 15 ORG 1 Homo sapiens SYM 1 DFNB15 ID|HUgn0001707 DID|LocusLink:1707 ORG|Homo sapiens SYM|DFNB15 NAM|deafness, autosomal recessive 15 CHR|3 |19 DBL|OMIM:601869 MAP|3 or 19 PHP|Deafness, autosomal recessive 15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1323122 } # EOR GENR { RETE|ID 1 HUgn0001709 CHR 1 7 DID 1 LocusLink:1709 MAP 1 7q31 NAM 1 deafness, autosomal recessive 17 ORG 1 Homo sapiens SYM 1 DFNB17 ID|HUgn0001709 DID|LocusLink:1709 ORG|Homo sapiens SYM|DFNB17 NAM|deafness, autosomal recessive 17 CHR|7 DBL|OMIM:603010 MAP|7q31 PHP|Deafness, autosomal recessive 17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6165853 } # EOR GENR { RETE|ID 1 HUgn0001710 CHR 1 11 DID 1 LocusLink:1710 MAP 1 11p15.1-p14 NAM 1 deafness, autosomal recessive 18 ORG 1 Homo sapiens SYM 1 DFNB18 ID|HUgn0001710 DID|LocusLink:1710 ORG|Homo sapiens SYM|DFNB18 NAM|deafness, autosomal recessive 18 CHR|11 DBL|OMIM:602092 MAP|11p15.1-p14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6275749 } # EOR GENR { RETE|ID 1 HUgn0001711 DID 1 LocusLink:1711 NAM 1 Dmx-like 2 ORG 1 Homo sapiens SYM 1 DMXL2 ID|HUgn0001711 DID|LocusLink:1711 ORG|Homo sapiens SYM|DMXL2 NAM|Dmx-like 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836470 } # EOR GENR { RETE|ID 1 HUgn0001712 CHR 1 18 DID 1 LocusLink:1712 MAP 1 18p11 NAM 1 deafness, autosomal recessive 19 ORG 1 Homo sapiens SYM 1 DFNB19 ID|HUgn0001712 DID|LocusLink:1712 ORG|Homo sapiens SYM|DFNB19 NAM|deafness, autosomal recessive 19 CHR|18 MAP|18p11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9120549 } # EOR GENR { RETE|ID 1 HUgn0001713 CHR 1 11 DID 1 LocusLink:1713 MAP 1 11q25-qter NAM 1 deafness, autosomal recessive 20 ORG 1 Homo sapiens SYM 1 DFNB20 ID|HUgn0001713 DID|LocusLink:1713 ORG|Homo sapiens SYM|DFNB20 NAM|deafness, autosomal recessive 20 CHR|11 DBL|OMIM:604060 MAP|11q25-qter PHP|Deafness, autosomal recessive 20 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9315105 } # EOR GENR { RETE|ID 1 HUgn0001714 CHR 1 22 DID 1 LocusLink:1714 MAP 1 22q11.21-q11.23 NAM 1 DiGeorge syndrome chromosome region ORG 1 Homo sapiens SYM 1 DGCR ID|HUgn0001714 DID|LocusLink:1714 ORG|Homo sapiens SYM|DGCR NAM|DiGeorge syndrome chromosome region SYN|DGS |VCF |CATCH22 REAB|DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, |thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical |neural crest migration into the derivatives of the pharyngeal arches and pouches |can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 |(the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including |the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. |This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, |syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated |outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, |and interrupted aortic arch. A collective acronym CATCH22 has been proposed for |these differing presentations. A small number of cases of DGS have defects in other |chromosomes, notably 10p13. In the mouse, a transgenic Hox A3 (Hox 1.5) knockout |produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol. |Jawad et al. (2001) [PubMed 11713452] studied 195 patients with chromosome 22q11 |deletion syndrome and found that diminished T-cell counts in the peripheral blood |are common. The pattern of changes seen with ageing in normal control patients was |also seen in patients with the chromosome 22q11.2 deletion syndrome, although the |decline in T cells was blunted. Autoimmune disease was seen in most age groups, |although the types of disorders varied according to age. Infections were also common |in older patients, although they were seldom life-threatening. Juvenile rheumatoid |arthritis with onset between 1.5 and 6 years of age was seen in 4 of the 195 patients; |idiopathic thrombocytopenia purpura with onset at 1 to 8 years of age was seen in |8 of 195 patients; autoimmune hemolytic anemia, psoriasis, vitiligo, inflammatory |bowel disease, adult rheumatoid arthritis, and rheumatic fever with chorea were |each seen in 1 patient of the 195 patients sampled. Kawame et al. (2001) [PubMed |11743521] reported 5 patients with chromosome 22q11.2 deletion that manifested Graves |disease between the ages of 27 months and 16 years, and suggested that Graves disease |may be part of the clinical spectrum of this disorder.[supplied by OMIM] CHR|22 PRD|DiGeorge syndrome chromosome region (velocardiofacial syndrome) DBL|OMIM:188400 MAP|22q11.21-q11.23 PHP|DiGeorge syndrome |Velocardiofacial syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119843 |http://www.geneclinics.org/query?mim=188400 |http://www.ncbi.nlm.nih.gov/disease/DGS.html } # EOR GENR { RETE|ID 1 HUgn0001716 CHR 1 2 DID 1 LocusLink:1716 MAP 1 2p13 NAM 1 deoxyguanosine kinase ORG 1 Homo sapiens SYM 1 DGUOK ID|HUgn0001716 DID|LocusLink:1716 ORG|Homo sapiens RSQ|REFSEQ:NM_001929 |REFSEQ:NM_080915 |REFSEQ:NM_080916 |REFSEQ:NM_080917 |REFSEQ:NM_080918 RPA|REFPROT:NP_001920 |REFPROT:NP_550437 |REFPROT:NP_550438 |REFPROT:NP_550439 |REFPROT:NP_550440 DBA|XM:NM_001929 |XM:NM_080915 |XM:NM_080916 |XM:NM_080917 |XM:NM_080918 |NA:U62042 |NA:U81499 |NA:AI201630 |NA:AU099795 |NA:BC001121 |NA:BC015757 |NA:BC024019 |NA:U41668 |NA:X97386 PAC|XP:NP_001920 |XP:NP_550437 |XP:NP_550438 |XP:NP_550439 |XP:NP_550440 SYM|DGUOK NAM|deoxyguanosine kinase SYN|DGK |dGK FNC|deoxyguanosine kinase isoform a precursor |deoxyguanosine kinase isoform b precursor |deoxyguanosine kinase isoform c precursor |deoxyguanosine kinase isoform d precursor |guanosine metabolism ; GO:0008617 REAB|In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated |predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase |and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible |for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. |In addition, this protein phosphorylates several purine deoxyribonucleoside analogs |used in the treatment of lymphoproliferative disorders, and this phosphorylation |is critical for the effectiveness of the analogs. Five alternative splice variants |encoding four different protein isoforms have been described for this gene. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409430 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1716[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1391769 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_080916 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_080916 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=409430 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.409430 |OMIM:601465 |SNP:1716 ENZ|EC:2.7.1.113 |deoxyguanosine kinase activity ; GO:0004138 MAP|2p13 PHP|Mitochondrial DNA-depletion syndrome, hepatocerebral form CEL|mitochondrion ; GO:0005739 } # EOR GENR { RETE|ID 1 HUgn0001717 CHR 1 11 DID 1 LocusLink:1717 MAP 1 11q13.2-q13.5 NAM 1 7-dehydrocholesterol reductase ORG 1 Homo sapiens SYM 1 DHCR7 ID|HUgn0001717 DID|LocusLink:1717 ORG|Homo sapiens RSQ|REFSEQ:NM_001360 RPA|REFPROT:NP_001351 DBA|XM:NM_001360 |NA:AF034544 |NA:AF062481 |NA:AF067127 |NA:AF096305 |NA:BC000054 |NA:none PAC|XP:NP_001351 SYM|DHCR7 NAM|7-dehydrocholesterol reductase SYN|SLOS FNC|7-dehydrocholesterol reductase |cholesterol biosynthesis ; GO:0006695 CHR|11 PRD|Smith-Lemli-Opitz syndrome |delta-7-dehydrocholesterol reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=11806 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1717[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:385950 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835302 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001360 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001360 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=11806 |http://www.geneclinics.org/query?mim=270400 |http://www.geneclinics.org/query?mim=602858 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 DBL|UNIGENE:Hs.11806 |OMIM:602858 |SNP:1717 MAP|11q13.2-q13.5 PHP|Smith-Lemli-Opitz syndrome, type I |Smith-Lemli-Opitz syndrome, type II CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|oxidoreductase activity ; GO:0016491 |7-dehydrocholesterol reductase activity ; GO:0047598 HG|species == Mouse; gene == Dhcr7; score == 903; expect == 0.0; MEOW:MGgn0003402 (87%) |species == rat; score == 887; expect == 0.0; MEOW:ref|NP_071784.1| (86%) |species == Weed; gene == DWF5; score == 277; expect == 7.2e-75; MEOW:ATgn0001801 (35%) |species == Human; gene == LBR; score == 256; expect == 2.6e-68; MEOW:HUgn0003930 (38%) |species == Human; gene == TM7SF2; score == 218; expect == 7.6e-57; MEOW:HUgn0007108 (41%) |species == rice; score == 205; expect == 8.6e-53; MEOW:gnl|TIGR|8350.m02331 (34%) |species == Yeast; gene == ERG24; score == 194; expect == 8.2e-50; MEOW:SGgn0005224 (31%) } # EOR GENR { RETE|ID 1 HUgn0001718 CHR 1 1 DID 1 LocusLink:1718 MAP 1 1p33-p31.1 NAM 1 24-dehydrocholesterol reductase ORG 1 Homo sapiens SYM 1 DHCR24 ID|HUgn0001718 DID|LocusLink:1718 ORG|Homo sapiens RSQ|REFSEQ:NM_014762 RPA|REFPROT:NP_055577 DBA|XM:NM_014762 |NA:AF398341 |NA:AF261758 |NA:BC004375 |NA:BC011669 |NA:D13643 |NA:none PAC|XP:NP_055577 SYM|DHCR24 NAM|24-dehydrocholesterol reductase SYN|KIAA0018 |SELADIN1 FNC|24-dehydrocholesterol reductase |electron transport ; GO:0006118 |cholesterol biosynthesis ; GO:0006695 REAB|The enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24), a member of the flavin |adenine dinucleotide (FAD)-dependent oxidoreductases, catalyzes the reduction of |the delta-24 double bond of sterol intermediates during cholesterol biosynthesis.[supplied |by OMIM] CHR|1 PRD|seladin-1 |3 beta-hydroxysterol delta 24 reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75616 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1718[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836471 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014762 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014762 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75616 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0018 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00351 DBL|UNIGENE:Hs.75616 |OMIM:606418 |SNP:1718 MAP|1p33-p31.1 PHP|Desmosterolosis CEL|Golgi apparatus ; GO:0005794 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|oxidoreductase activity ; GO:0016491 HG|species == rat; score == 1050; expect == 0.0; MEOW:ref|XP_216452.2| (97%) |species == Mouse; gene == Dhcr24; score == 1039; expect == 0.0; MEOW:MGgn0026115 (96%) |species == Worm; gene == F52H2.6; score == 517; expect == 4e-147; MEOW:CEgn0011535 (49%) |species == rice; score == 380; expect == 2e-105; MEOW:gnl|TIGR|8362.m01932 (40%) |species == Weed; gene == DIM; score == 374; expect == 7e-104; MEOW:ATgn0012343 (40%) } # EOR GENR { RETE|ID 1 HUgn0001719 CHR 1 5 DID 1 LocusLink:1719 MAP 1 5q11.2-q13.2 NAM 1 dihydrofolate reductase ORG 1 Homo sapiens SYM 1 DHFR ID|HUgn0001719 DID|LocusLink:1719 ORG|Homo sapiens RSQ|REFSEQ:NM_000791 RPA|REFPROT:NP_000782 DBA|XM:NM_000791 |NA:J00139 |NA:X00855 |NA:BC000192 |NA:BC003584 |NA:BC009634 |NA:J00140 |NA:V00507 |NA:none PAC|XP:NP_000782 SYM|DHFR NAM|dihydrofolate reductase FNC|dihydrofolate reductase |glycine biosynthesis ; GO:0006545 |one-carbon compound metabolism ; GO:0006730 |nucleotide biosynthesis ; GO:0009165 REAB|Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group |shuttle required for the de novo synthesis of purines, thymidylic acid, and certain |amino acids. While the functional dihydrofolate reductase gene has been mapped |to chromosome 5, four intronless processed pseudogenes have been identified on separate |chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic |anemia. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83765 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=464813 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1719[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119845 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000791 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000791 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83765 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=464813 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00670 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA143 DBL|UNIGENE:Hs.83765 |UNIGENE:Hs.464813 |OMIM:126060 |SNP:1719 ENZ|EC:1.5.1.3 |dihydrofolate reductase activity ; GO:0004146 |oxidoreductase activity ; GO:0016491 MAP|5q11.2-q13.2 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 350; expect == 2.5e-97; MEOW:ref|NP_569084.1| (89%) |species == Mouse; gene == Dhfr; score == 349; expect == 2.9e-97; MEOW:MGgn0003403 (89%) |species == Human; gene == LOC200895; score == 345; expect == 6.3e-96; MEOW:HUgn0200895 (93%) |species == Zfish; gene == dhfr; score == 237; expect == 1.4e-64; MEOW:ZFgn0002130 (61%) |species == Fruitfly; gene == Dhfr; score == 154; expect == 1.2e-38; MEOW:FBgn0004087 (46%) |species == Mosquito; score == 143; expect == 2.7e-35; MEOW:AGgn0002909 (41%) } # EOR GENR { RETE|ID 1 HUgn0001720 CHR 1 18 DID 1 LocusLink:1720 MAP 1 18q12.1 NAM 1 dihydrofolate reductase pseudogene 1 ORG 1 Homo sapiens SYM 1 DHFRP1 ID|HUgn0001720 DID|LocusLink:1720 CLA|Pseudogene ORG|Homo sapiens DBA|NA:J00146 SYM|DHFRP1 NAM|dihydrofolate reductase pseudogene 1 CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169235 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119093 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=J00146 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=J00146 DBL|UNIGENE:Hs.169235 MAP|18q12.1 } # EOR GENR { RETE|ID 1 HUgn0001721 CHR 1 6 DID 1 LocusLink:1721 MAP 1 6 NAM 1 dihydrofolate reductase pseudogene 2 ORG 1 Homo sapiens SYM 1 DHFRP2 ID|HUgn0001721 DID|LocusLink:1721 CLA|Pseudogene ORG|Homo sapiens DBA|NA:J00143 |NA:J00144 |NA:J00145 SYM|DHFRP2 NAM|dihydrofolate reductase pseudogene 2 CHR|6 MAP|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119094 } # EOR GENR { RETE|ID 1 HUgn0001722 CHR 1 3 DID 1 LocusLink:1722 MAP 1 3 NAM 1 dihydrofolate reductase pseudogene 4 ORG 1 Homo sapiens SYM 1 DHFRP4 ID|HUgn0001722 DID|LocusLink:1722 CLA|Pseudogene ORG|Homo sapiens SYM|DHFRP4 NAM|dihydrofolate reductase pseudogene 4 CHR|3 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119095 } # EOR GENR { RETE|ID 1 HUgn0001723 CHR 1 16 DID 1 LocusLink:1723 MAP 1 16q22 NAM 1 dihydroorotate dehydrogenase ORG 1 Homo sapiens SYM 1 DHODH ID|HUgn0001723 DID|LocusLink:1723 ORG|Homo sapiens RSQ|REFSEQ:NM_001361 RPA|REFPROT:NP_001352 DBA|XM:NM_001361 |NA:BI253747 |NA:M94065 |NA:none PAC|XP:NP_001352 SYM|DHODH NAM|dihydroorotate dehydrogenase SYN|DHOdehase FNC|dihydroorotate dehydrogenase precursor |'de novo' pyrimidine base biosynthesis ; GO:0006207 |pyrimidine nucleotide biosynthesis ; GO:0006221 REAB|The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated |oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This |protein is a mitochondrial protein located on the outer surface of the inner mitochondrial |membrane. CHR|16 PRD|human complement of yeast URA1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405639 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1723[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136780 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001361 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001361 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 DBL|UNIGENE:Hs.405639 |OMIM:126064 |SNP:1723 ENZ|EC:1.3.3.1 |dihydroorotate dehydrogenase activity ; GO:0004152 |oxidoreductase activity ; GO:0016491 |dihydroorotate oxidase activity ; GO:0004158 MAP|16q22 CEL|membrane ; GO:0016020 |mitochondrion ; GO:0005739 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Dhodh; score == 664; expect == 0.0; MEOW:MGgn0015034 (87%) |species == rat; score == 408; expect == 2e-114; MEOW:ref|XP_341686.1| (88%) |species == Mosquito; gene == LOC11275; score == 372; expect == 2e-103; MEOW:AGgn0011275 (55%) |species == rice; score == 370; expect == 9e-103; MEOW:gnl|TIGR|8352.m05421 (53%) |species == Worm; gene == W02D3.2; score == 369; expect == 2e-102; MEOW:CEgn0017376 (51%) |species == Weed; gene == At5g23300; score == 367; expect == 7e-102; MEOW:ATgn0022396 (50%) |species == Fruitfly; gene == Dhod; score == 317; expect == 3.3e-87; MEOW:FBgn0000447 (48%) |species == ecoli; score == 222; expect == 2.6e-58; MEOW:ref|NP_415465.1| (42%) } # EOR GENR { RETE|ID 1 HUgn0001724 CHR 1 X DID 1 LocusLink:1724 MAP 1 Xp22.31 NAM 1 dermal hypoplasia, focal ORG 1 Homo sapiens SYM 1 DHOF ID|HUgn0001724 DID|LocusLink:1724 ORG|Homo sapiens SYM|DHOF NAM|dermal hypoplasia, focal CHR|X DBL|OMIM:305600 MAP|Xp22.31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119847 } # EOR GENR { RETE|ID 1 HUgn0001725 CHR 1 19 DID 1 LocusLink:1725 MAP 1 19p13.2-p13.1 NAM 1 deoxyhypusine synthase ORG 1 Homo sapiens SYM 1 DHPS ID|HUgn0001725 DID|LocusLink:1725 ORG|Homo sapiens RSQ|REFSEQ:NM_001930 |REFSEQ:NM_013406 |REFSEQ:NM_013407 RPA|REFPROT:NP_001921 |REFPROT:NP_037538 |REFPROT:NP_037539 DBA|XM:NM_001930 |XM:NM_013406 |XM:NM_013407 |NA:AJ001701 |NA:BC000333 |NA:BC014016 |NA:L39068 |NA:U26266 |NA:U32178 |NA:U40579 |NA:U79262 |NA:none PAC|XP:NP_001921 |XP:NP_037538 |XP:NP_037539 SYM|DHPS NAM|deoxyhypusine synthase FNC|deoxyhypusine synthase isoform a |deoxyhypusine synthase isoform b |deoxyhypusine synthase isoform c |positive regulation of cell proliferation ; GO:0008284 |protein biosynthesis ; GO:0006412 |hypusine biosynthesis from peptidyl-lysine ; GO:0008612 REAB|The unusual amino acid hypusine is formed posttranslationally and is only found in |a single cellular protein, eukaryotic translation initiation factor 5A. In the first |step of hypusine biosynthesis, deoxyhypusine synthase catalyzes the NAD-dependent |transfer of the butylamine moiety of spermidine to the epsilon-amino group of a |specific lysine residue of the EIF5A precursor protein to form the intermediate |deoxyhypusine residue. This gene consists of nine exons spanning 6.6 kb. Three transcript |variants have been isolated. However, only transcript variant 1 encodes an active |protein. The shorter variants may act as modulating factors of DHPS activity. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79064 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1725[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:681161 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001930 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001930 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79064 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27329 DBL|UNIGENE:Hs.79064 |OMIM:600944 |SNP:1725 ENZ|EC:2.5.1.46 |deoxyhypusine synthase activity ; GO:0004171 |transferase activity ; GO:0016740 MAP|19p13.2-p13.1 HG|species == rat; score == 684; expect == 0.0; MEOW:ref|XP_213837.2| (92%) |species == Mosquito; gene == LOC10024; score == 483; expect == 4e-137; MEOW:AGgn0010024 (63%) |species == Fruitfly; gene == CG8005; score == 481; expect == 2e-136; MEOW:FBgn0035854 (64%) |species == Weed; gene == At5g05920; score == 454; expect == 3e-128; MEOW:ATgn0025533 (62%) |species == rice; score == 441; expect == 5e-124; MEOW:gnl|TIGR|8360.m04739 (62%) |species == rice; score == 441; expect == 5e-124; MEOW:gnl|TIGR|8360.m04740 (62%) |species == Worm; gene == Y17G7B.4; score == 429; expect == 1e-120; MEOW:CEgn0018033 (58%) |species == Yeast; gene == DYS1; score == 404; expect == 1e-113; MEOW:SGgn0001110 (57%) } # EOR GENR { RETE|ID 1 HUgn0001727 CHR 1 22 DID 1 LocusLink:1727 MAP 1 22q13.31-qter NAM 1 diaphorase (NADH) (cytochrome b-5 reductase) ORG 1 Homo sapiens SYM 1 DIA1 ID|HUgn0001727 DID|LocusLink:1727 ORG|Homo sapiens RSQ|REFSEQ:NM_000398 |REFSEQ:NM_007326 RPA|REFPROT:NP_000389 |REFPROT:NP_015565 DBA|XM:NM_000398 |XM:NM_007326 |NA:M28705 |NA:M28706 |NA:M28707 |NA:M28708 |NA:M28709 |NA:M28710 |NA:M28711 |NA:M28712 |NA:M28713 |NA:AF361370 |NA:AJ010116 |NA:AJ010117 |NA:AJ010118 |NA:AK124528 |NA:BC004821 |NA:M16461 |NA:M16462 |NA:Y09501 |NA:none PAC|XP:NP_000389 |XP:NP_015565 SYM|DIA1 NAM|diaphorase (NADH) (cytochrome b-5 reductase) FNC|cytochrome b5 reductase membrane-bound isoform |cytochrome b5 reductase soluble isoform |electron transport ; GO:0006118 |iron ion transport ; GO:0006826 |circulation ; GO:0008015 |energy pathways ; GO:0006091 REAB|Two forms of NADH-cytochrome b5 reductase are known, a membrane-bound form in somatic |cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) |and a soluble form in erythrocytes. The former exists mainly on the cytoplasmic |side of the endoplasmic reticulum and functions in desaturation and elongation of |fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte |form is located in a soluble fraction of circulating erythrocytes and is involved |in methemoglobin reduction. Membrane-bound enzyme consists of 300 amino acid residues |having both membrane-binding and catalytic domains. The soluble type consists of |275 amino acids having only the catalytic domain. The 2 forms of the enzyme are |coded by the same gene, DIA1. The two forms are thought to be generated from tissue-specific |alternative transcripts differing in the first exon. Deficiency of DIA1 has been |associated with methemoglobinemias. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274464 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1727[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119848 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007326 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007326 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274464 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1727 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00530 DBL|UNIGENE:Hs.274464 |OMIM:250800 |SNP:1727 ENZ|EC:1.6.2.2 |cytochrome-b5 reductase activity ; GO:0004128 |oxidoreductase activity ; GO:0016491 MAP|22q13.31-qter PHP|Methemoglobinemia, type I |Methemoglobinemia, type II CEL|hemoglobin complex ; GO:0005833 |membrane ; GO:0016020 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Dia1; score == 552; expect == 8e-158; MEOW:MGgn0003407 (87%) |species == rat; score == 549; expect == 6e-157; MEOW:ref|NP_620232.1| (87%) |species == Human; gene == CYB5R1; score == 374; expect == 3e-104; MEOW:HUgn0051706 (64%) |species == Worm; gene == T05H4.5; score == 348; expect == 2.1e-96; MEOW:CEgn0015547 (59%) |species == Worm; gene == T05H4.4; score == 344; expect == 5.1e-95; MEOW:CEgn0015546 (56%) |species == Human; gene == CYB5R2; score == 343; expect == 5.8e-95; MEOW:HUgn0051700 (58%) |species == Fruitfly; gene == CG5946; score == 340; expect == 4.5e-94; MEOW:FBgn0036211 (62%) |species == Mosquito; score == 334; expect == 3.4e-92; MEOW:AGgn0015028 (60%) |species == Weed; gene == NIA1; score == 272; expect == 5.6e-73; MEOW:ATgn0003905 (49%) |species == rice; score == 259; expect == 2.7e-69; MEOW:gnl|TIGR|8356.m03512 (47%) |species == Weed; gene == NIA2; score == 258; expect == 1.1e-68; MEOW:ATgn0000011 (44%) |species == rice; score == 254; expect == 1.5e-67; MEOW:gnl|TIGR|8351.m05087 (45%) |species == Yeast; gene == CBR1; score == 160; expect == 8.7e-40; MEOW:SGgn0001305 (38%) |species == Yeast; gene == YML125C; score == 159; expect == 1.4e-39; MEOW:SGgn0004594 (34%) |species == Yeast; gene == YML087C; score == 139; expect == 2.0e-33; MEOW:SGgn0004552 (32%) |species == Yeast; gene == MCR1; score == 136; expect == 2.1e-32; MEOW:SGgn0001633 (32%) } # EOR GENR { RETE|ID 1 HUgn0001728 CHR 1 16 DID 1 LocusLink:1728 MAP 1 16q22.1 NAM 1 NAD(P)H dehydrogenase, quinone 1 ORG 1 Homo sapiens SYM 1 NQO1 ID|HUgn0001728 DID|LocusLink:1728 ORG|Homo sapiens RSQ|REFSEQ:NM_000903 RPA|REFPROT:NP_000894 DBA|XM:NM_000903 |NA:M81600 |NA:BC000906 |NA:BC007659 |NA:J03934 |NA:none PAC|XP:NP_000894 SYM|NQO1 NAM|NAD(P)H dehydrogenase, quinone 1 SYN|DTD |QR1 |DHQU |DIA4 |NMOR1 |NMORI FNC|NAD(P)H menadione oxidoreductase 1, dioxin-inducible |nitric oxide biosynthesis ; GO:0006809 |response to toxin ; GO:0009636 |synaptic transmission, cholinergic ; GO:0007271 |xenobiotic metabolism ; GO:0006805 |electron transport ; GO:0006118 CHR|16 PRD|diaphorase-4 |diaphorase (NADH/NADPH) |diaphorase (NADH/NADPH) (cytochrome b-5 reductase) |NAD(P)H:menadione oxidoreductase 1, dioxin-inducible 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406515 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1728[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119849 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000903 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000903 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406515 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA31744 DBL|UNIGENE:Hs.406515 |OMIM:125860 |SNP:1728 MAP|16q22.1 PHP|Benzene toxicity, susceptibility to |Leukemia, post-chemotherapy, susceptibility to ENZ|NAD(P)H dehydrogenase (quinone) activity ; GO:0003955 |cytochrome-b5 reductase activity ; GO:0004128 |oxidoreductase activity ; GO:0016491 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Nqo1; score == 472; expect == 1e-133; MEOW:MGgn0008349 (86%) |species == rat; score == 467; expect == 3e-132; MEOW:ref|NP_058696.2| (85%) |species == Human; gene == NQO2; score == 222; expect == 1.1e-58; MEOW:HUgn0004835 (48%) } # EOR GENR { RETE|ID 1 HUgn0001729 CHR 1 5 DID 1 LocusLink:1729 MAP 1 5q31 NAM 1 diaphanous homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DIAPH1 ID|HUgn0001729 DID|LocusLink:1729 ORG|Homo sapiens RSQ|REFSEQ:NM_005219 RPA|REFPROT:NP_005210 DBA|XM:NM_005219 |NA:AF051782 |NA:AK023345 |NA:AK094264 |NA:AY360322 |NA:AY363395 |NA:BC007411 |NA:BQ945734 |NA:BT007318 |NA:none PAC|XP:NP_005210 SYM|DIAPH1 NAM|diaphanous homolog 1 (Drosophila) SYN|DRF1 |DFNA1 |LFHL1 |hDIA1 FNC|diaphanous 1 |hearing ; GO:0007605 REAB|This gene is a homolog of the Drosophila diaphanous gene, and has been linked to |autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency |hearing loss. Actin polymerization involves proteins known to interact with diaphanous |protein in Drosophila and mouse. It has therefore been speculated that this gene |may have a role in the regulation of actin polymerization in hair cells of the inner |ear. CHR|5 PRD|diaphanous-related formin 1 |deafness, autosomal dominant 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511896 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1729[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835482 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005219 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005219 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511896 |http://www.geneclinics.org/query?mim=602121 |http://alt-www.uia.ac.be/dnalab/hhh/ DBL|UNIGENE:Hs.511896 |OMIM:602121 |SNP:1729 |UWCM:9835482.html MAP|5q31 PHP|Deafness, autosomal dominant 1 ENZ|profilin binding ; GO:0005522 |actin binding ; GO:0003779 |receptor binding ; GO:0005102 HG|species == Mouse; gene == Diap1; score == 998; expect == 0.0; MEOW:MGgn0003409 (93%) |species == rat; score == 997; expect == 0.0; MEOW:ref|XP_226014.2| (91%) |species == Human; gene == DIAPH2; score == 524; expect == 1e-148; MEOW:HUgn0001730 (63%) |species == Fruitfly; gene == dia; score == 365; expect == 6e-101; MEOW:FBgn0011202 (44%) |species == Mosquito; score == 330; expect == 1.7e-90; MEOW:AGgn0004639 (40%) |species == Worm; gene == cyk-1; score == 209; expect == 7.2e-54; MEOW:CEgn0000326 (32%) |species == Worm; gene == F56E10.2; score == 169; expect == 4.4e-42; MEOW:CEgn0012122 (24%) |species == rice; score == 168; expect == 4.6e-41; MEOW:gnl|TIGR|8356.m01730 (29%) |species == Weed; gene == At2g25050; score == 167; expect == 4.1e-41; MEOW:ATgn0008714 (27%) |species == rice; score == 157; expect == 1.2e-38; MEOW:gnl|TIGR|8351.m05697 (26%) |species == rice; score == 147; expect == 3.8e-35; MEOW:gnl|TIGR|8362.m00167 (25%) |species == Weed; gene == At1g31810; score == 146; expect == 8.4e-35; MEOW:ATgn0001328 (27%) |species == Weed; gene == At5g07770; score == 145; expect == 7.9e-35; MEOW:ATgn0021396 (25%) |species == Weed; gene == At3g25500; score == 143; expect == 5.9e-34; MEOW:ATgn0017092 (27%) |species == Weed; gene == At5g07650; score == 138; expect == 1.0e-32; MEOW:ATgn0021374 (24%) |species == rice; score == 137; expect == 8.7e-32; MEOW:gnl|TIGR|8355.m03846 (25%) |species == Weed; gene == At5g07760; score == 134; expect == 2.1e-31; MEOW:ATgn0021395 (25%) } # EOR GENR { RETE|ID 1 HUgn0001730 CHR 1 X DID 1 LocusLink:1730 MAP 1 Xq22 NAM 1 diaphanous homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 DIAPH2 ID|HUgn0001730 DID|LocusLink:1730 ORG|Homo sapiens RSQ|REFSEQ:NM_006729 |REFSEQ:NM_007309 RPA|REFPROT:NP_006720 |REFPROT:NP_009293 DBA|XM:NM_006729 |XM:NM_007309 |NA:AL031053 |NA:Y15908 |NA:Y15909 |NA:none PAC|XP:NP_006720 |XP:NP_009293 SYM|DIAPH2 NAM|diaphanous homolog 2 (Drosophila) SYN|DIA |POF |POF2 FNC|diaphanous 2 isoform 12C |diaphanous 2 isoform 156 |cytokinesis ; GO:0016288 |female gamete generation ; GO:0007292 REAB|This gene may play a role in the development and normal function of the ovaries. |Mutations of this gene have been linked to premature ovarian failure. Alternative |splicing results in two protein isoforms. Furthermore, each splice variant undergoes |additional splicing in the 3' UTR. Overall 4 splice variants have been described. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=226483 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1730[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006729 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006729 DBL|UNIGENE:Hs.226483 |OMIM:300108 |SNP:1730 MAP|Xq22 PHP|Premature ovarian failure ENZ|actin binding ; GO:0003779 |receptor binding ; GO:0005102 CEL|membrane ; GO:0016020 HG|species == Mouse; gene == Diap2; score == 837; expect == 0.0; MEOW:MGgn0014028 (85%) |species == rat; score == 648; expect == 0.0; MEOW:ref|XP_228441.2| (88%) |species == Human; gene == DIAPH1; score == 524; expect == 1e-148; MEOW:HUgn0001729 (63%) |species == rat; score == 520; expect == 3e-147; MEOW:ref|XP_226014.2| (63%) |species == Fruitfly; gene == dia; score == 332; expect == 7.2e-91; MEOW:FBgn0011202 (41%) |species == Mosquito; score == 322; expect == 5.7e-88; MEOW:AGgn0004639 (41%) |species == Worm; gene == cyk-1; score == 183; expect == 7.2e-46; MEOW:CEgn0000326 (29%) |species == Worm; gene == F56E10.2; score == 150; expect == 2.8e-36; MEOW:CEgn0012122 (22%) |species == Weed; gene == At2g25050; score == 148; expect == 2.0e-35; MEOW:ATgn0008714 (22%) |species == rice; score == 141; expect == 4.0e-33; MEOW:gnl|TIGR|8356.m01730 (25%) |species == rice; score == 137; expect == 2.6e-32; MEOW:gnl|TIGR|8362.m01494 (28%) } # EOR GENR { RETE|ID 1 HUgn0001731 CHR 1 16 DID 1 LocusLink:1731 MAP 1 16p11.1 NAM 1 septin 1 ORG 1 Homo sapiens SYM 1 SEPT1 ID|HUgn0001731 DID|LocusLink:1731 ORG|Homo sapiens RSQ|REFSEQ:NM_052838 RPA|REFPROT:NP_443070 DBA|XM:NM_052838 |NA:AF308288 |NA:AF085235 |NA:AL833004 |NA:AY034176 |NA:BC012161 |NA:BQ072902 |NA:none PAC|XP:NP_443070 SYM|SEPT1 NAM|septin 1 SYN|LARP |SEP1 |DIFF6 |PNUTL3 |MGC20394 FNC|septin 1 |cell cycle ; GO:0007049 |cytokinesis ; GO:0000910 REAB|This gene is a member of the septin family of GTPases. Members of this family are |required for cytokinesis. This gene encodes a protein associated with the tau-based |paired helical filament core, and may contribute to the formation of neurofibrillary |tangles in Alzheimer's disease. CHR|16 PRD|serologically defined breast cancer antigen NY-BR-24 |differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511897 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1731[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:11498918 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_052838 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_052838 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511897 DBL|UNIGENE:Hs.511897 |SNP:1731 MAP|16p11.1 ENZ|GTP binding ; GO:0005525 HG|species == rat; score == 614; expect == 3e-176; MEOW:ref|XP_215071.2| (87%) |species == Mouse; gene == Sept1; score == 613; expect == 3e-176; MEOW:MGgn0014029 (93%) |species == Human; gene == PNUTL2; score == 471; expect == 4e-133; MEOW:HUgn0005414 (64%) |species == Human; gene == PNUTL1; score == 460; expect == 5e-130; MEOW:HUgn0005413 (64%) |species == Mosquito; gene == LOC17451; score == 404; expect == 3e-113; MEOW:AGgn0017451 (54%) |species == Human; gene == NEDD5; score == 379; expect == 1e-105; MEOW:HUgn0004735 (58%) |species == Mosquito; gene == LOC21002; score == 369; expect == 2e-102; MEOW:AGgn0021002 (54%) |species == Fruitfly; gene == Sep1; score == 369; expect == 1e-102; MEOW:FBgn0011710 (54%) |species == Mosquito; gene == LOC10880; score == 326; expect == 1.3e-89; MEOW:AGgn0010880 (52%) |species == Fruitfly; gene == pnut; score == 315; expect == 1.1e-86; MEOW:FBgn0013726 (46%) |species == Worm; gene == unc-59; score == 242; expect == 2.8e-64; MEOW:CEgn0002944 (38%) |species == Worm; gene == unc-61; score == 240; expect == 1.3e-63; MEOW:CEgn0002946 (38%) |species == Yeast; gene == CDC10; score == 219; expect == 2.1e-57; MEOW:SGgn0000595 (40%) |species == Yeast; gene == CDC3; score == 215; expect == 7.7e-57; MEOW:SGgn0004306 (36%) |species == Yeast; gene == CDC12; score == 210; expect == 2.5e-55; MEOW:SGgn0001149 (38%) |species == Yeast; gene == CDC11; score == 208; expect == 5.1e-54; MEOW:SGgn0003837 (39%) |species == Yeast; gene == SPR3; score == 191; expect == 6.4e-49; MEOW:SGgn0003291 (35%) } # EOR GENR { RETE|ID 1 HUgn0001732 DID 1 LocusLink:1732 NAM 1 diaphragmatic hernia 1 ORG 1 Homo sapiens SYM 1 DIH1 ID|HUgn0001732 DID|LocusLink:1732 ORG|Homo sapiens SYM|DIH1 NAM|diaphragmatic hernia 1 DBL|OMIM:142340 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:439243 } # EOR GENR { RETE|ID 1 HUgn0001733 CHR 1 1 DID 1 LocusLink:1733 MAP 1 1p32-p33 NAM 1 deiodinase, iodothyronine, type I ORG 1 Homo sapiens SYM 1 DIO1 ID|HUgn0001733 DID|LocusLink:1733 ORG|Homo sapiens RSQ|REFSEQ:NM_000792 RPA|REFPROT:NP_000783 DBA|XM:NM_000792 |NA:Z48634 |NA:BC017955 |NA:S48220 |NA:none PAC|XP:NP_000783 SYM|DIO1 NAM|deiodinase, iodothyronine, type I SYN|TXDI1 FNC|thyroxine deiodinase type 1 |thyroid hormone generation ; GO:0006590 REAB|Type I iodothyronine deiodinase is a thiol-requiring propylthiouracil-sensitive oxidoreductase. |It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer |ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades |both hormones by inner ring deiodination (IRD). CHR|1 PRD|5DI |thyroxine deiodinase type I (selenoprotein) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=251415 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1733[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136449 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000792 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000792 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=251415 DBL|UNIGENE:Hs.251415 |OMIM:147892 |SNP:1733 ENZ|EC:3.8.1.4 |thyroxine deiodinase activity ; GO:0004800 |selenium binding ; GO:0008430 |oxidoreductase activity ; GO:0016491 |hydrolase activity ; GO:0016787 MAP|1p32-p33 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 210; expect == 1.7e-55; MEOW:ref|NP_067685.2| (76%) |species == Mouse; gene == Dio1; score == 207; expect == 1.1e-54; MEOW:MGgn0003415 (76%) |species == Human; gene == DIO3; score == 145; expect == 2.6e-35; MEOW:HUgn0001735 (45%) |species == Human; gene == DIO2; score == 131; expect == 3.9e-31; MEOW:HUgn0001734 (41%) } # EOR GENR { RETE|ID 1 HUgn0001734 CHR 1 14 DID 1 LocusLink:1734 MAP 1 14q24.2-q24.3 NAM 1 deiodinase, iodothyronine, type II ORG 1 Homo sapiens SYM 1 DIO2 ID|HUgn0001734 DID|LocusLink:1734 ORG|Homo sapiens RSQ|REFSEQ:NM_000793 |REFSEQ:NM_013989 RPA|REFPROT:NP_000784 |REFPROT:NP_054644 DBA|XM:NM_000793 |XM:NM_013989 |NA:AF188709 |NA:AB041843 |NA:AF007144 |NA:AF093774 |NA:AF123661 |NA:U53506 |NA:none PAC|XP:NP_000784 |XP:NP_054644 SYM|DIO2 NAM|deiodinase, iodothyronine, type II SYN|SelY |TXDI2 FNC|deiodinase, iodothyronine, type II REAB|Type II iodothyronine deiodinase activates thyroid hormone by converting the prohormone |thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine |(T3). Thyroid hormone appears to have important regulatory effects in some mammalian |tissues, such as the developing brain, the anterior pituitary gland, and brown adipose |tissue. A relatively high proportion of the receptor-bound triiodothyronine is found |within the tissue itself rather than in plasma. The expression in these tissues |of type II iodothyronine deiodinase, suggests that deiodinase II is responsible |for this 'local' production of T3 and is thus important in influencing thyroid hormone |action in these tissues. In addition, DIO2 activity is markedly elevated in the |hypothyroid state and appears to be responsible for catalyzing the production of |a large proportion of the circulating T3 under such conditions. Dioiodinase 2 may |contribute significantly to the relative increase in thyroidal T3 production in |patients with Graves disease, toxic adenomas, and, perhaps, iodine deficiency. Alternative |splice variants are formed due to the presence or absence of an unspliced intron |in the 5' untranslated region. CHR|14 PRD|thyroxine deiodinase, type II URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436020 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1734[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5189678 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013989 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013989 DBL|UNIGENE:Hs.436020 |OMIM:601413 |SNP:1734 ENZ|EC:3.8.1.4 MAP|14q24.2-q24.3 HG|species == rat; score == 476; expect == 6e-135; MEOW:ref|NP_113908.2| (89%) |species == Mouse; gene == Dio2; score == 469; expect == 4e-133; MEOW:MGgn0003416 (89%) |species == Human; gene == DIO3; score == 145; expect == 3.0e-35; MEOW:HUgn0001735 (35%) |species == Human; gene == DIO1; score == 131; expect == 3.9e-31; MEOW:HUgn0001733 (41%) } # EOR GENR { RETE|ID 1 HUgn0001735 CHR 1 14 DID 1 LocusLink:1735 MAP 1 14q32 NAM 1 deiodinase, iodothyronine, type III ORG 1 Homo sapiens SYM 1 DIO3 ID|HUgn0001735 DID|LocusLink:1735 ORG|Homo sapiens RSQ|REFSEQ:NM_001362 RPA|REFPROT:NP_001353 DBA|XM:NM_001362 |NA:BC017717 |NA:S79854 |NA:none PAC|XP:NP_001353 SYM|DIO3 NAM|deiodinase, iodothyronine, type III SYN|D3 |5DIII |TXDI3 |DIOIII FNC|thyroxine deiodinase type III |biological_process unknown ; GO:0000004 REAB|Type III iodothyronine deiodinase represents an important pathway for thyroid hormone |inactivation. It catalyzes the inner ring deiodination of the prohormone thyroxine |(T4) and of the bioactive hormone 3,3',5-triiodothyronine (T3) to 3,3'-T2 to inactive |metabolites. Its expression in placenta and several fetal tissues during early development |suggests that it plays a role in the regulation of thyroid hormone inactivation |during embryologic development. CHR|14 PRD|type III iodothyronine deiodinase |type 3 iodothyronine selenodeiodinase |thyroxine deiodinase type III (selenoprotein) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=49322 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1735[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:702065 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001362 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001362 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=49322 DBL|UNIGENE:Hs.49322 |OMIM:601038 |SNP:1735 ENZ|EC:3.8.1.4 |thyroxine deiodinase activity ; GO:0004800 |oxidoreductase activity ; GO:0016491 |hydrolase activity ; GO:0016787 MAP|14q32 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 517; expect == 2e-147; MEOW:ref|NP_058906.2| (94%) |species == Mouse; gene == Dio3; score == 515; expect == 1e-146; MEOW:MGgn0003417 (94%) |species == Human; gene == DIO1; score == 145; expect == 2.6e-35; MEOW:HUgn0001733 (45%) |species == Human; gene == DIO2; score == 145; expect == 3.0e-35; MEOW:HUgn0001734 (35%) } # EOR GENR { RETE|ID 1 HUgn0001736 CHR 1 X DID 1 LocusLink:1736 MAP 1 Xq28 NAM 1 dyskeratosis congenita 1, dyskerin ORG 1 Homo sapiens SYM 1 DKC1 ID|HUgn0001736 DID|LocusLink:1736 ORG|Homo sapiens RSQ|REFSEQ:NM_001363 RPA|REFPROT:NP_001354 DBA|XM:NM_001363 |NA:AF067023 |NA:AJ010395 |NA:AJ010396 |NA:AJ224481 |NA:AF067008 |NA:BC009928 |NA:BC010015 |NA:U59151 |NA:none PAC|XP:NP_001354 SYM|DKC1 NAM|dyskeratosis congenita 1, dyskerin SYN|DKC |NAP57 |NOLA4 |XAP101 |dyskerin FNC|dyskerin |rRNA processing ; GO:0006364 |telomerase-dependent telomere maintenance ; GO:0007004 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 REAB|This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene |family. snoRNPs are involved in various aspects of rRNA processing and modification |and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also |include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three |NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled |(Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation |are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP |proteins are also components of the telomerase complex. The protein encoded by this |gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster |Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated |erythrocyte membrane protein (MPP1) gene and is transcribed in a telomere to centromere |direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms |have been found in this gene. Mutations in this gene cause X-linked dyskeratosis |congenita disease. CHR|X PRD|Dyskerin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4747 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1736[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119096 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001363 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001363 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=4747 |http://www.geneclinics.org/query?mim=300126 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27344 DBL|UNIGENE:Hs.4747 |OMIM:300126 |SNP:1736 |UWCM:119096.html MAP|Xq28 PHP|Dyskeratosis congenita-1 |Hoyeraal-Hreidarsson syndrome ENZ|RNA binding ; GO:0003723 |pseudouridylate synthase activity ; GO:0004730 CEL|nucleolus ; GO:0005730 |nucleoplasm ; GO:0005654 |chromosome, telomeric region ; GO:0000781 HG|species == Fruitfly; gene == Nop60B; score == 607; expect == 2e-174; MEOW:FBgn0023184 (73%) |species == Mosquito; gene == LOC17710; score == 597; expect == 3e-171; MEOW:AGgn0017710 (71%) |species == Worm; gene == K01G5.5; score == 574; expect == 4e-164; MEOW:CEgn0012958 (67%) |species == Weed; gene == At3g57150; score == 566; expect == 1e-161; MEOW:ATgn0016511 (65%) |species == rice; score == 566; expect == 2e-161; MEOW:gnl|TIGR|8360.m02301 (71%) |species == rice; score == 565; expect == 3e-161; MEOW:gnl|TIGR|8355.m04217 (72%) |species == Yeast; gene == CBF5; score == 560; expect == 1e-160; MEOW:SGgn0004165 (71%) } # EOR GENR { RETE|ID 1 HUgn0001737 CHR 1 11 DID 1 LocusLink:1737 MAP 1 11q23.1 NAM 1 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ORG 1 Homo sapiens SYM 1 DLAT ID|HUgn0001737 DID|LocusLink:1737 ORG|Homo sapiens RSQ|REFSEQ:NM_001931 RPA|REFPROT:NP_001922 DBA|XM:NM_001931 |NA:AF317200 |NA:AK057299 |NA:AL832703 |NA:BC039084 |NA:X13822 |NA:Y00978 |NA:Z48500 PAC|XP:NP_001922 SYM|DLAT NAM|dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) SYN|DLTA |PDC-E2 FNC|dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) CHR|11 PRD|M2 antigen complex 70 kDa subunit |70 kDa mitochondrial autoantigen of primary biliary cirrhosis URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115285 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1737[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118785 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001931 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001931 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=115285 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.115285 |OMIM:109720 |SNP:1737 ENZ|EC:2.3.1.12 |dihydrolipoamide S-acetyltransferase activity ; GO:0004742 MAP|11q23.1 PHP|Dihydrolipoamide acetyltransferase E2 (lipoate acetyl transferase E2); component of pyruvate dehydrogenase complex CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Dlat; score == 960; expect == 0.0; MEOW:MGgn0043649 (82%) |species == rat; score == 932; expect == 0.0; MEOW:ref|XP_343390.1| (83%) |species == rat; score == 751; expect == 0.0; MEOW:ref|XP_214414.2| (83%) |species == Worm; gene == F23B12.5; score == 454; expect == 5e-128; MEOW:CEgn0009162 (56%) |species == Weed; gene == At3g13930; score == 394; expect == 5e-110; MEOW:ATgn0012371 (47%) |species == rice; score == 391; expect == 8e-109; MEOW:gnl|TIGR|8355.m02011 (46%) |species == Fruitfly; gene == CG5261; score == 386; expect == 1e-107; MEOW:FBgn0031912 (50%) |species == rice; score == 382; expect == 2e-106; MEOW:gnl|TIGR|8351.m00053 (46%) |species == Weed; gene == At3g52200; score == 377; expect == 1e-104; MEOW:ATgn0011703 (40%) |species == Weed; gene == At1g54220; score == 374; expect == 7e-104; MEOW:ATgn0006871 (48%) |species == rice; score == 350; expect == 3.1e-96; MEOW:gnl|TIGR|8354.m00059 (46%) |species == Yeast; gene == LAT1; score == 341; expect == 2.4e-94; MEOW:SGgn0005015 (42%) |species == Mosquito; gene == LOC12307; score == 306; expect == 1.3e-83; MEOW:AGgn0012307 (58%) |species == Human; gene == PDHX; score == 287; expect == 1.1e-77; MEOW:HUgn0008050 (39%) |species == ecoli; score == 175; expect == 7.3e-45; MEOW:ref|NP_415255.1| (27%) |species == ecoli; score == 145; expect == 8.8e-35; MEOW:ref|NP_414657.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0001738 CHR 1 7 DID 1 LocusLink:1738 MAP 1 7q31-q32 NAM 1 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) ORG 1 Homo sapiens SYM 1 DLD ID|HUgn0001738 DID|LocusLink:1738 ORG|Homo sapiens RSQ|REFSEQ:NM_000108 RPA|REFPROT:NP_000099 DBA|XM:NM_000108 |XM:NM_000108 |NA:L13761 |NA:BC018648 |NA:BC018696 |NA:J03490 |NA:J03620 |NA:none PAC|XP:NP_000099 |XP:NP_000099 SYM|DLD NAM|dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) SYN|E3 |LAD |DLDH |PHE3 FNC|dihydrolipoamide dehydrogenase precursor |electron transport ; GO:0006118 |glycolysis ; GO:0006096 |energy pathways ; GO:0006091 REAB|Dihydrolipoyl dehydrogenase is a component of the mitochondrial pyruvate and alpha-ketoglutarate |dehydrogenase complexes. Defects in the enzyme cause congenital infantile lactic |acidosis CHR|7 PRD|E3 component of pyruvate dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74635 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1738[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120608 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000108 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000108 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74635 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.74635 |OMIM:246900 |SNP:1738 |UWCM:120608.html ENZ|EC:1.8.1.4 |dihydrolipoamide dehydrogenase activity ; GO:0004148 |disulfide oxidoreductase activity ; GO:0015036 |metal ion binding ; GO:0046872 MAP|7q31-q32 PHP|Lipoamide dehydrogenase deficiency CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 975; expect == 0.0; MEOW:ref|XP_216682.1| (94%) |species == Mouse; gene == Dld; score == 974; expect == 0.0; MEOW:MGgn0003426 (94%) |species == Mosquito; score == 702; expect == 0.0; MEOW:AGgn0019195 (71%) |species == Worm; gene == LLC1.3; score == 687; expect == 0.0; MEOW:CEgn0013907 (72%) |species == Fruitfly; gene == CG7430; score == 687; expect == 0.0; MEOW:FBgn0036762 (67%) |species == Yeast; gene == LPD1; score == 547; expect == 2e-156; MEOW:SGgn0001876 (57%) |species == Weed; gene == mtlpd1; score == 545; expect == 3e-155; MEOW:ATgn0006031 (59%) |species == rice; score == 541; expect == 9e-154; MEOW:gnl|TIGR|8350.m07037 (56%) |species == Weed; gene == mtlpd2; score == 533; expect == 9e-152; MEOW:ATgn0014876 (58%) |species == rice; score == 523; expect == 3e-148; MEOW:gnl|TIGR|8353.m00547 (54%) |species == ecoli; score == 348; expect == 6.3e-97; MEOW:ref|NP_414658.1| (43%) |species == Human; gene == TXNRD1; score == 188; expect == 5.4e-48; MEOW:HUgn0007296 (29%) |species == Human; gene == TXNRD3; score == 183; expect == 2.3e-46; MEOW:HUgn0114112 (29%) |species == Human; gene == GSR; score == 180; expect == 1.5e-45; MEOW:HUgn0002936 (29%) |species == Human; gene == TXNRD2; score == 179; expect == 4.3e-45; MEOW:HUgn0010587 (30%) } # EOR GENR { RETE|ID 1 HUgn0001739 CHR 1 3 DID 1 LocusLink:1739 MAP 1 3q29 NAM 1 discs, large homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DLG1 ID|HUgn0001739 DID|LocusLink:1739 ORG|Homo sapiens RSQ|REFSEQ:NM_004087 RPA|REFPROT:NP_004078 DBA|XM:NM_004087 |NA:U13896 |NA:U13897 |NA:none PAC|XP:NP_004078 SYM|DLG1 NAM|discs, large homolog 1 (Drosophila) SYN|hdlg |SAP97 FNC|synapse-associated protein 97 CHR|3 PRD|discs large homolog 1 |presynaptic protein SAP97 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389893 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1739[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:393278 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004087 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004087 DBL|UNIGENE:Hs.389893 |OMIM:601014 |SNP:1739 MAP|3q29 ENZ|cytoskeletal protein binding ; GO:0008092 |membrane-associated guanylate kinase ; GO:0004384 |guanylate kinase activity ; GO:0004385 CEL|intercellular junction ; GO:0005911 |cytoplasm ; GO:0005737 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Dlgh1; score == 1661; expect == 0.0; MEOW:MGgn0003428 (93%) |species == rat; score == 1576; expect == 0.0; MEOW:ref|NP_036920.1| (89%) |species == Human; gene == DLG2; score == 1156; expect == 0.0; MEOW:HUgn0001740 (68%) |species == Human; gene == DLG4; score == 1051; expect == 0.0; MEOW:HUgn0001742 (71%) |species == Human; gene == DLG3; score == 989; expect == 0.0; MEOW:HUgn0001741 (70%) |species == Mosquito; score == 802; expect == 0.0; MEOW:AGgn0012597 (58%) |species == Fruitfly; gene == dlg1; score == 616; expect == 2e-176; MEOW:FBgn0001624 (60%) |species == Worm; gene == dlg-1; score == 506; expect == 2e-143; MEOW:CEgn0033150 (45%) |species == Zfish; gene == hmp; score == 172; expect == 5.2e-44; MEOW:ZFgn0000664 (27%) } # EOR GENR { RETE|ID 1 HUgn0001740 CHR 1 11 DID 1 LocusLink:1740 MAP 1 11q21 NAM 1 discs, large homolog 2, chapsyn-110 (Drosophila) ORG 1 Homo sapiens SYM 1 DLG2 ID|HUgn0001740 DID|LocusLink:1740 ORG|Homo sapiens RSQ|REFSEQ:NM_001364 RPA|REFPROT:NP_001355 DBA|XM:NM_001364 |NA:AK126776 |NA:U32376 |NA:none PAC|XP:NP_001355 SYM|DLG2 NAM|discs, large homolog 2, chapsyn-110 (Drosophila) SYN|PSD-93 FNC|chapsyn-110 REAB|This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. |It heteromultimerizes with DLG4. With DLG4 it is recruited into the same NMDA receptor |and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic |sites to form a multimeric scaffold for the clustering of receptors, ion channels, |and associated signaling proteins. CHR|11 PRD|discs large homolog 2 |channel-associated protein of synapses, 110kDa URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=215839 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1740[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053914 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001364 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001364 DBL|UNIGENE:Hs.215839 |OMIM:603583 |SNP:1740 MAP|11q21 ENZ|guanylate kinase activity ; GO:0004385 |protein binding ; GO:0005515 CEL|plasma membrane ; GO:0005886 HG|species == rat; score == 1600; expect == 0.0; MEOW:ref|NP_071618.1| (94%) |species == Mouse; gene == Dlgh2; score == 1592; expect == 0.0; MEOW:MGgn0003429 (93%) |species == Human; gene == DLG1; score == 1156; expect == 0.0; MEOW:HUgn0001739 (68%) |species == Human; gene == DLG3; score == 967; expect == 0.0; MEOW:HUgn0001741 (65%) |species == Human; gene == DLG4; score == 962; expect == 0.0; MEOW:HUgn0001742 (58%) |species == Mosquito; score == 651; expect == 0.0; MEOW:AGgn0012597 (53%) |species == Fruitfly; gene == dlg1; score == 621; expect == 7e-178; MEOW:FBgn0001624 (61%) |species == Mosquito; gene == LOC12487; score == 597; expect == 4e-171; MEOW:AGgn0012487 (65%) |species == Worm; gene == dlg-1; score == 401; expect == 2e-111; MEOW:CEgn0033150 (46%) |species == Zfish; gene == hmp; score == 179; expect == 2.3e-46; MEOW:ZFgn0000664 (28%) } # EOR GENR { RETE|ID 1 HUgn0001741 CHR 1 X DID 1 LocusLink:1741 MAP 1 Xq13.1 NAM 1 discs, large homolog 3 (neuroendocrine-dlg, Drosophila) ORG 1 Homo sapiens SYM 1 DLG3 ID|HUgn0001741 DID|LocusLink:1741 ORG|Homo sapiens RSQ|REFSEQ:NM_021120 RPA|REFPROT:NP_066943 DBA|XM:NM_021120 |NA:AB033058 |NA:U49089 |NA:none PAC|XP:NP_066943 SYM|DLG3 NAM|discs, large homolog 3 (neuroendocrine-dlg, Drosophila) SYN|NEDLG |SAP102 |KIAA1232 FNC|synapse-associated protein 102 |negative regulation of cell proliferation ; GO:0008285 CHR|X PRD|neuroendocrine-dlg |discs large homolog 3 |discs, large (Drosophila) homolog 3 (neuroendocrine-dlg) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=11101 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1741[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053915 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021120 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021120 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA1232 DBL|UNIGENE:Hs.11101 |OMIM:300189 |SNP:1741 MAP|Xq13.1 ENZ|guanylate kinase activity ; GO:0004385 |protein binding ; GO:0005515 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 1502; expect == 0.0; MEOW:ref|NP_113827.1| (95%) |species == Mouse; gene == Dlgh3; score == 1501; expect == 0.0; MEOW:MGgn0014495 (95%) |species == rat; score == 1004; expect == 0.0; MEOW:ref|NP_071618.1| (68%) |species == Mouse; gene == Dlgh2; score == 1003; expect == 0.0; MEOW:MGgn0003429 (68%) |species == Human; gene == DLG1; score == 989; expect == 0.0; MEOW:HUgn0001739 (70%) |species == rat; score == 984; expect == 0.0; MEOW:ref|NP_036920.1| (69%) |species == Human; gene == DLG2; score == 967; expect == 0.0; MEOW:HUgn0001740 (65%) |species == Mouse; gene == Dlgh1; score == 963; expect == 0.0; MEOW:MGgn0003428 (68%) |species == Human; gene == DLG4; score == 957; expect == 0.0; MEOW:HUgn0001742 (67%) |species == Mouse; gene == Dlgh4; score == 956; expect == 0.0; MEOW:MGgn0003431 (67%) |species == rat; score == 955; expect == 0.0; MEOW:ref|NP_062567.1| (66%) |species == Mosquito; score == 721; expect == 0.0; MEOW:AGgn0012597 (55%) |species == Fruitfly; gene == dlg1; score == 572; expect == 2e-163; MEOW:FBgn0001624 (52%) |species == Worm; gene == dlg-1; score == 499; expect == 2e-141; MEOW:CEgn0033150 (45%) |species == Zfish; gene == hmp; score == 183; expect == 2.0e-47; MEOW:ZFgn0000664 (28%) |species == Zfish; gene == cask; score == 153; expect == 2.2e-38; MEOW:ZFgn0002612 (27%) } # EOR GENR { RETE|ID 1 HUgn0001742 CHR 1 17 DID 1 LocusLink:1742 MAP 1 17p13.1 NAM 1 discs, large homolog 4 (Drosophila) ORG 1 Homo sapiens SYM 1 DLG4 ID|HUgn0001742 DID|LocusLink:1742 ORG|Homo sapiens RSQ|REFSEQ:NM_001365 RPA|REFPROT:NP_001356 DBA|XM:NM_001365 |NA:AF156495 |NA:AF028825 |NA:BC040533 |NA:U83192 PAC|XP:NP_001356 SYM|DLG4 NAM|discs, large homolog 4 (Drosophila) SYN|PSD95 |SAP90 FNC|postsynaptic density protein 95 |learning ; GO:0007612 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 REAB|This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. |It heteromultimerizes with DLG2. With DLG2 it is recruited into the same NMDA receptor |and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic |sites to form a multimeric scaffold for the clustering of receptors, ion channels, |and associated signaling proteins. CHR|17 PRD|discs large homolog 4 |synapse-associated protein 90 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23731 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1742[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6053916 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001365 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001365 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=23731 DBL|UNIGENE:Hs.23731 |OMIM:602887 |SNP:1742 MAP|17p13.1 ENZ|protein C-terminus binding ; GO:0008022 |membrane-associated guanylate kinase ; GO:0004384 |guanylate kinase activity ; GO:0004385 HG|species == rat; score == 1429; expect == 0.0; MEOW:ref|NP_062567.1| (99%) |species == Mouse; gene == Dlgh4; score == 1427; expect == 0.0; MEOW:MGgn0003431 (99%) |species == Human; gene == DLG1; score == 1051; expect == 0.0; MEOW:HUgn0001739 (71%) |species == Human; gene == DLG2; score == 962; expect == 0.0; MEOW:HUgn0001740 (58%) |species == Human; gene == DLG3; score == 957; expect == 0.0; MEOW:HUgn0001741 (67%) |species == Mosquito; score == 724; expect == 0.0; MEOW:AGgn0012597 (53%) |species == Fruitfly; gene == dlg1; score == 541; expect == 3e-154; MEOW:FBgn0001624 (51%) |species == Worm; gene == dlg-1; score == 472; expect == 2e-133; MEOW:CEgn0033150 (42%) |species == Zfish; gene == hmp; score == 157; expect == 1.4e-39; MEOW:ZFgn0000664 (26%) |species == Zfish; gene == cask; score == 137; expect == 1.5e-33; MEOW:ZFgn0002612 (24%) } # EOR GENR { RETE|ID 1 HUgn0001743 CHR 1 14 DID 1 LocusLink:1743 MAP 1 14q24.3 NAM 1 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) ORG 1 Homo sapiens SYM 1 DLST ID|HUgn0001743 DID|LocusLink:1743 ORG|Homo sapiens RSQ|REFSEQ:NM_001933 RPA|REFPROT:NP_001924 DBA|XM:NM_001933 |NA:AC006530 |NA:D17297 |NA:D26535 |NA:AL538322 |NA:AU133381 |NA:BC000302 |NA:BC001922 |NA:BC002735 |NA:BM682697 |NA:BM928746 |NA:D16373 |NA:L37418 |NA:S72422 PAC|XP:NP_001924 SYM|DLST NAM|dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) SYN|DLTS FNC|dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) |energy pathways ; GO:0006091 CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=296348 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=480230 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1743[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118786 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001933 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001933 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=296348 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=480230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 DBL|UNIGENE:Hs.296348 |UNIGENE:Hs.480230 |OMIM:126063 |SNP:1743 ENZ|EC:2.3.1.61 MAP|14q24.3 PHP|Dihydrolipoamide S-succinyltransferase E2; component of the alpha-ketoglutarate complex HG|species == rat; score == 736; expect == 0.0; MEOW:ref|XP_216753.2| (92%) |species == Mouse; gene == Dlst; score == 727; expect == 0.0; MEOW:MGgn0024232 (91%) |species == Mosquito; score == 422; expect == 1e-118; MEOW:AGgn0010144 (61%) |species == Fruitfly; gene == CG5214; score == 354; expect == 4.9e-98; MEOW:FBgn0037891 (68%) |species == rice; score == 349; expect == 2.0e-96; MEOW:gnl|TIGR|8352.m02995 (46%) |species == Weed; gene == At4g26910; score == 348; expect == 3.6e-96; MEOW:ATgn0018153 (48%) |species == Weed; gene == At5g55070; score == 346; expect == 1.8e-95; MEOW:ATgn0021700 (47%) |species == Worm; gene == W02F12.5; score == 339; expect == 1.9e-93; MEOW:CEgn0017404 (67%) |species == rice; score == 328; expect == 4.2e-90; MEOW:gnl|TIGR|8351.m02925 (47%) |species == Yeast; gene == KGD2; score == 325; expect == 3.3e-89; MEOW:SGgn0002555 (45%) |species == ecoli; score == 315; expect == 3.7e-86; MEOW:ref|NP_415255.1| (45%) } # EOR GENR { RETE|ID 1 HUgn0001744 CHR 1 1 DID 1 LocusLink:1744 MAP 1 1p31 NAM 1 dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) ORG 1 Homo sapiens SYM 1 DLSTP ID|HUgn0001744 DID|LocusLink:1744 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D29970 SYM|DLSTP NAM|dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) CHR|1 MAP|1p31 DBL|SNP:1744 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:371690 } # EOR GENR { RETE|ID 1 HUgn0001745 CHR 1 2 DID 1 LocusLink:1745 MAP 1 2q32 NAM 1 distal-less homeo box 1 ORG 1 Homo sapiens SYM 1 DLX1 ID|HUgn0001745 DID|LocusLink:1745 ORG|Homo sapiens RSQ|REFSEQ:NM_178120 RPA|REFPROT:NP_835221 DBA|XM:NM_178120 |NA:BC013010 |NA:BC036189 |NA:BC053351 |NA:none PAC|XP:NP_835221 SYM|DLX1 NAM|distal-less homeo box 1 FNC|distal-less homeo box 1 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|2 PRD|distal-less homeobox 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407015 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1745[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335585 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_178120 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_178120 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=407015 DBL|UNIGENE:Hs.407015 |OMIM:600029 |SNP:1745 MAP|2q32 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dlx1; score == 382; expect == 6e-107; MEOW:MGgn0003436 (98%) |species == rat; score == 371; expect == 2e-103; MEOW:ref|XP_230987.2| (91%) |species == Zfish; gene == dlx1a; score == 325; expect == 9.4e-91; MEOW:ZFgn0000254 (74%) |species == Human; gene == DLX5; score == 140; expect == 8.0e-34; MEOW:HUgn0001749 (53%) |species == Fruitfly; gene == Dll; score == 136; expect == 5.0e-33; MEOW:FBgn0000157 (52%) |species == Mosquito; score == 135; expect == 1.4e-32; MEOW:AGgn0021432 (50%) |species == Human; gene == DLX3; score == 134; expect == 5.7e-32; MEOW:HUgn0001747 (48%) } # EOR GENR { RETE|ID 1 HUgn0001746 CHR 1 2 DID 1 LocusLink:1746 MAP 1 2q32 NAM 1 distal-less homeo box 2 ORG 1 Homo sapiens SYM 1 DLX2 ID|HUgn0001746 DID|LocusLink:1746 ORG|Homo sapiens RSQ|REFSEQ:NM_004405 RPA|REFPROT:NP_004396 DBA|XM:NM_004405 |NA:U51003 |NA:BC032558 |NA:L07919 |NA:none PAC|XP:NP_004396 SYM|DLX2 NAM|distal-less homeo box 2 SYN|TES1 |TES-1 FNC|distal-less homeo box 2 |brain development ; GO:0007420 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|Many vertebrate homeo box-containing genes have been identified on the basis of their |sequence similarity with Drosophila developmental genes. Members of the Dlx gene |family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed |in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family |of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are |postulated to play a role in forebrain and craniofacial development CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=419 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1746[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132358 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004405 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004405 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=419 DBL|UNIGENE:Hs.419 |OMIM:126255 |SNP:1746 MAP|2q32 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 462; expect == 1e-130; MEOW:ref|XP_230986.2| (92%) |species == Mouse; gene == Dlx2; score == 458; expect == 2e-129; MEOW:MGgn0003438 (93%) |species == Zfish; gene == dlx2a; score == 278; expect == 1.6e-76; MEOW:ZFgn0000049 (57%) |species == Zfish; gene == dlx2b; score == 253; expect == 7.0e-69; MEOW:ZFgn0000038 (52%) |species == Human; gene == DLX3; score == 213; expect == 7.4e-56; MEOW:HUgn0001747 (47%) |species == Human; gene == DLX5; score == 212; expect == 1.7e-55; MEOW:HUgn0001749 (46%) |species == Fruitfly; gene == Dll; score == 134; expect == 3.1e-32; MEOW:FBgn0000157 (52%) |species == Mosquito; score == 132; expect == 1.9e-31; MEOW:AGgn0021432 (49%) } # EOR GENR { RETE|ID 1 HUgn0001747 CHR 1 17 DID 1 LocusLink:1747 MAP 1 17q21 NAM 1 distal-less homeo box 3 ORG 1 Homo sapiens SYM 1 DLX3 ID|HUgn0001747 DID|LocusLink:1747 ORG|Homo sapiens RSQ|REFSEQ:NM_005220 RPA|REFPROT:NP_005211 DBA|XM:NM_005220 |NA:AF028233 |NA:AA604314 |NA:AK075167 |NA:BC012361 |NA:BC028970 |NA:BM982262 |NA:CB990401 |NA:none PAC|XP:NP_005211 SYM|DLX3 NAM|distal-less homeo box 3 SYN|TDO FNC|distal-less homeo box 3 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |development ; GO:0007275 REAB|Many vertebrate homeo box-containing genes have been identified on the basis of their |sequence similarity with Drosophila developmental genes. Members of the Dlx gene |family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed |in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family |of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome |(TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=134194 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1747[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:572844 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005220 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005220 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=134194 DBL|UNIGENE:Hs.134194 |OMIM:600525 |SNP:1747 MAP|17q21 PHP|Trichodontoosseous syndrome ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dlx3; score == 533; expect == 2e-152; MEOW:MGgn0003439 (97%) |species == rat; score == 533; expect == 4e-152; MEOW:ref|XP_220869.1| (97%) |species == Zfish; gene == dlx3b; score == 357; expect == 3.7e-99; MEOW:ZFgn0000075 (66%) |species == Human; gene == DLX5; score == 247; expect == 6.1e-66; MEOW:HUgn0001749 (52%) |species == Human; gene == DLX2; score == 213; expect == 7.4e-56; MEOW:HUgn0001746 (47%) |species == Fruitfly; gene == Dll; score == 135; expect == 1.5e-32; MEOW:FBgn0000157 (40%) } # EOR GENR { RETE|ID 1 HUgn0001748 CHR 1 17 DID 1 LocusLink:1748 MAP 1 17q21.33 NAM 1 distal-less homeobox 4 ORG 1 Homo sapiens SYM 1 DLX4 ID|HUgn0001748 DID|LocusLink:1748 ORG|Homo sapiens RSQ|REFSEQ:NM_001934 |REFSEQ:NM_138281 RPA|REFPROT:NP_001925 |REFPROT:NP_612138 DBA|XM:NM_001934 |XM:NM_138281 |NA:AF028235 |NA:AF254115 |NA:BC016145 |NA:U31762 |NA:U73328 PAC|XP:NP_001925 |XP:NP_612138 SYM|DLX4 NAM|distal-less homeobox 4 SYN|BP1 |DLX7 |DLX8 |DLX9 FNC|distal-less homeobox 4 isoform a |distal-less homeobox 4 isoform b REAB|Many vertebrate homeo box-containing genes have been identified on the basis of their |sequence similarity with Drosophila developmental genes. Members of the Dlx gene |family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed |in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family |of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are |postulated to play a role in forebrain and craniofacial development. Three transcript |variants have been described for this gene, however, the full length nature of one |variant has not been described. Studies of the two splice variants revealed that |one encoded isoform functions as a repressor of the beta-globin gene while the other |isoform lacks that function. CHR|17 PRD|beta protein 1 |distal-less homeo box 9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172648 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1748[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3770728 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9787149 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138281 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138281 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172648 DBL|UNIGENE:Hs.172648 |OMIM:601911 |SNP:1748 MAP|17q21.33 ENZ|transcription factor activity ; GO:0003700 HG|species == rat; score == 179; expect == 1.5e-45; MEOW:ref|XP_220870.2| (82%) |species == Mouse; gene == Dlx4; score == 167; expect == 6.1e-42; MEOW:MGgn0003440 (78%) |species == Zfish; gene == dlx4a; score == 152; expect == 1.3e-37; MEOW:ZFgn0000197 (61%) |species == Zfish; gene == dlx4b; score == 142; expect == 1.3e-34; MEOW:ZFgn0000255 (59%) |species == Zfish; gene == dlx6a; score == 141; expect == 3.7e-34; MEOW:ZFgn0000152 (55%) } # EOR GENR { RETE|ID 1 HUgn0001749 CHR 1 7 DID 1 LocusLink:1749 MAP 1 7q22 NAM 1 distal-less homeo box 5 ORG 1 Homo sapiens SYM 1 DLX5 ID|HUgn0001749 DID|LocusLink:1749 ORG|Homo sapiens RSQ|REFSEQ:NM_005221 RPA|REFPROT:NP_005212 DBA|XM:NM_005221 |XM:NM_005221 |NA:AC004774 |NA:BC006226 |NA:none PAC|XP:NP_005212 |XP:NP_005212 SYM|DLX5 NAM|distal-less homeo box 5 FNC|distal-less homeo box 5 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |development ; GO:0007275 |neurogenesis ; GO:0007399 REAB|Many vertebrate homeo box-containing genes have been identified on the basis of their |sequence similarity with Drosophila developmental genes. Members of the Dlx gene |family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed |in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family |of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are |postulated to play a role in forebrain and craniofacial development. DLX5 and DLX6 |are closely linked in an inverted convergent (tail-to-tail) configuration. DLX5 |is a candidate gene for split-hand/split-foot malformation (SHFM1). CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99348 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1749[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335600 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005221 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005221 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99348 DBL|UNIGENE:Hs.99348 |OMIM:600028 |SNP:1749 MAP|7q22 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 570; expect == 4e-163; MEOW:ref|NP_037075.1| (95%) |species == Zfish; gene == dlx5a; score == 406; expect == 1e-113; MEOW:ZFgn0000376 (71%) |species == Human; gene == DLX3; score == 247; expect == 6.1e-66; MEOW:HUgn0001747 (52%) |species == rat; score == 245; expect == 3.0e-65; MEOW:ref|XP_220869.1| (52%) |species == Mouse; gene == Dlx3; score == 243; expect == 4.5e-65; MEOW:MGgn0003439 (51%) |species == Mouse; gene == Dlx5; score == 229; expect == 5.0e-61; MEOW:MGgn0003441 (91%) |species == Human; gene == DLX2; score == 212; expect == 1.7e-55; MEOW:HUgn0001746 (46%) |species == Mouse; gene == Dlx2; score == 211; expect == 2.5e-55; MEOW:MGgn0003438 (45%) |species == rat; score == 211; expect == 4.9e-55; MEOW:ref|XP_230986.2| (48%) |species == Mosquito; score == 131; expect == 2.1e-31; MEOW:AGgn0021432 (46%) } # EOR GENR { RETE|ID 1 HUgn0001750 CHR 1 7 DID 1 LocusLink:1750 MAP 1 7q22 NAM 1 distal-less homeo box 6 ORG 1 Homo sapiens SYM 1 DLX6 ID|HUgn0001750 DID|LocusLink:1750 ORG|Homo sapiens DBA|NA:AC004774 |NA:AK094086 |NA:none SYM|DLX6 NAM|distal-less homeo box 6 REAB|Many vertebrate homeo box-containing genes have been identified on the basis of their |sequence similarity with Drosophila developmental genes. Members of the Dlx gene |family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed |in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family |of genes comprises at least 6 different members, DLX1-DLX6. DLX5 and DLX6 are closely |linked in an inverted convergent (tail-to-tail) configuration. The DLX proteins |are postulated to play a role in forebrain and craniofacial development. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249196 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1750[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335607 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AK094086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AK094086 DBL|UNIGENE:Hs.249196 |OMIM:600030 |SNP:1750 MAP|7q22 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |development ; GO:0007275 |neurogenesis ; GO:0007399 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0001754 CHR 1 19 DID 1 LocusLink:1754 MAP 1 19q13.3 NAM 1 sine oculis homeobox homolog 5 (Drosophila) ORG 1 Homo sapiens SYM 1 SIX5 ID|HUgn0001754 DID|LocusLink:1754 ORG|Homo sapiens DBA|NA:X84813 SYM|SIX5 NAM|sine oculis homeobox homolog 5 (Drosophila) SYN|DMAHP CHR|19 PRD|DM locus-associated homeodomain protein |dystrophia myotonica-associated homeodomain protein DBL|OMIM:600963 MAP|19q13.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:697132 } # EOR GENR { RETE|ID 1 HUgn0001755 CHR 1 10 DID 1 LocusLink:1755 MAP 1 10q25.3-q26.1 NAM 1 deleted in malignant brain tumors 1 ORG 1 Homo sapiens SYM 1 DMBT1 ID|HUgn0001755 DID|LocusLink:1755 ORG|Homo sapiens RSQ|REFSEQ:NM_004406 |REFSEQ:NM_007329 |REFSEQ:NM_017579 RPA|REFPROT:NP_004397 |REFPROT:NP_015568 |REFPROT:NP_060049 DBA|XM:NM_004406 |XM:NM_007329 |XM:NM_017579 |NA:AJ243211 |NA:AF159456 |NA:AJ000342 |NA:AJ243212 |NA:AJ243224 |NA:AJ297935 |NA:BX640988 PAC|XP:NP_004397 |XP:NP_015568 |XP:NP_060049 SYM|DMBT1 NAM|deleted in malignant brain tumors 1 SYN|GP340 FNC|deleted in malignant brain tumors 1 isoform a precursor |deleted in malignant brain tumors 1 isoform b precursor |deleted in malignant brain tumors 1 isoform c precursor REAB|Loss of sequences from human chromosome 10q has been associated with the progression |of human cancers. The gene DMBT1 was originally isolated based on its deletion |in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, |and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although |the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein |containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by |SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to |bind surfactant protein D independently of carbohydrate recognition. This indicates |that DMBT1 may not be a classical tumor supressor gene, but rather play a role in |the interaction of tumor cells and the immune system. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=279611 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1755[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6943888 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007329 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007329 DBL|UNIGENE:Hs.279611 |OMIM:601969 |SNP:1755 MAP|10q25.3-q26.1 PHP|Glioblastoma multiforme, somatic |Medulloblastoma ENZ|tumor suppressor ; GO:0008181 HG|species == Mouse; gene == Dmbt1; score == 1865; expect == 0.0; MEOW:MGgn0001662 (55%) |species == rat; score == 1011; expect == 0.0; MEOW:ref|XP_219318.2| (51%) |species == Human; gene == LOC375940; score == 923; expect == 0.0; MEOW:HUgn0375940 (41%) |species == rat; score == 875; expect == 0.0; MEOW:ref|NP_074040.1| (63%) |species == Human; gene == M160; score == 849; expect == 0.0; MEOW:HUgn0283316 (37%) |species == Human; gene == CD163; score == 779; expect == 0.0; MEOW:HUgn0009332 (41%) |species == Mosquito; score == 152; expect == 7.2e-37; MEOW:AGgn0020312 (39%) |species == Mosquito; gene == LOC21796; score == 151; expect == 2.1e-36; MEOW:AGgn0021796 (37%) |species == Mosquito; score == 151; expect == 2.1e-36; MEOW:AGgn0025376 (37%) } # EOR GENR { RETE|ID 1 HUgn0001756 CHR 1 X DID 1 LocusLink:1756 MAP 1 Xp21.2 NAM 1 dystrophin (muscular dystrophy, Duchenne and Becker types) ORG 1 Homo sapiens SYM 1 DMD ID|HUgn0001756 DID|LocusLink:1756 ORG|Homo sapiens RSQ|REFSEQ:NM_000109 |REFSEQ:NM_004006 |REFSEQ:NM_004007 |REFSEQ:NM_004009 |REFSEQ:NM_004010 |REFSEQ:NM_004011 |REFSEQ:NM_004012 |REFSEQ:NM_004013 |REFSEQ:NM_004014 |REFSEQ:NM_004015 |REFSEQ:NM_004016 |REFSEQ:NM_004017 |REFSEQ:NM_004018 |REFSEQ:NM_004019 |REFSEQ:NM_004020 |REFSEQ:NM_004021 |REFSEQ:NM_004022 |REFSEQ:NM_004023 RPA|REFPROT:NP_000100 |REFPROT:NP_003997 |REFPROT:NP_003998 |REFPROT:NP_004000 |REFPROT:NP_004001 |REFPROT:NP_004002 |REFPROT:NP_004003 |REFPROT:NP_004004 |REFPROT:NP_004005 |REFPROT:NP_004006 |REFPROT:NP_004007 |REFPROT:NP_004008 |REFPROT:NP_004009 |REFPROT:NP_004010 |REFPROT:NP_004011 |REFPROT:NP_004012 |REFPROT:NP_004013 |REFPROT:NP_004014 DBA|XM:NM_000109 |XM:NM_004006 |XM:NM_004007 |XM:NM_004009 |XM:NM_004010 |XM:NM_004011 |XM:NM_004012 |XM:NM_004013 |XM:NM_004014 |XM:NM_004015 |XM:NM_004016 |XM:NM_004017 |XM:NM_004018 |XM:NM_004019 |XM:NM_004020 |XM:NM_004021 |XM:NM_004022 |XM:NM_004023 |NA:AF047505 |NA:D32048 |NA:L01538 |NA:L05642 |NA:L05646 |NA:L05649 |NA:M23261 |NA:M32058 |NA:M86903 |NA:S42212 |NA:U27203 |NA:U60822 |NA:U90310 |NA:X13045 |NA:X13047 |NA:X13048 |NA:X15495 |NA:X54820 |NA:BC009242 |NA:BC010932 |NA:BC028720 |NA:BC036103 |NA:L35854 |NA:M18533 |NA:M63072 |NA:M63073 |NA:M63075 |NA:M92650 |NA:S38776 |NA:S42206 |NA:S62617 |NA:S64152 |NA:S81419 |NA:X06178 |NA:X06179 |NA:X14298 |NA:X15148 |NA:X15149 PAC|XP:NP_000100 |XP:NP_003997 |XP:NP_003998 |XP:NP_004000 |XP:NP_004001 |XP:NP_004002 |XP:NP_004003 |XP:NP_004004 |XP:NP_004005 |XP:NP_004006 |XP:NP_004007 |XP:NP_004008 |XP:NP_004009 |XP:NP_004010 |XP:NP_004011 |XP:NP_004012 |XP:NP_004013 |XP:NP_004014 SYM|DMD NAM|dystrophin (muscular dystrophy, Duchenne and Becker types) SYN|BMD |DXS142 |DXS164 |DXS206 |DXS230 |DXS239 |DXS268 |DXS269 |DXS270 |DXS272 FNC|dystrophin Dp116 isoform |dystrophin Dp140 isoform |dystrophin Dp140ab isoform |dystrophin Dp140b isoform |dystrophin Dp140bc isoform |dystrophin Dp140c isoform |dystrophin Dp260-1 isoform |dystrophin Dp260-2 isoform |dystrophin Dp40 isoform |dystrophin Dp427c isoform |dystrophin Dp427l isoform |dystrophin Dp427m isoform |dystrophin Dp427p1 isoform |dystrophin Dp427p2 isoform |dystrophin Dp71 isoform |dystrophin Dp71a isoform |dystrophin Dp71ab isoform |dystrophin Dp71b isoform |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 |cell shape and cell size control ; GO:0007148 REAB|The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene |was identified through a positional cloning approach, targeted at the isolation |of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. |DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 |in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients |carry mutations which cause premature translation termination (nonsense or frame |shift mutations), while in BMD patients dystrophin is reduced either in molecular |weight (derived from in-frame deletions) or in expression level. The dystrophin |gene is highly complex, containing at least eight independent, tissue-specific promoters |and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, |producing a range of different transcripts, encoding a large set of protein isoforms. |Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal |protein which is found at the inner surface of muscle fibers. Dystrophin is part |of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton |(F-actin) and the extra-cellular matrix. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169470 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=495922 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=495924 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1756[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119850 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004010 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004010 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169470 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=495922 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=495924 |http://www.geneclinics.org/query?mim=310200 |http://www.geneclinics.org/query?mim=300377 |http://www.ncbi.nlm.nih.gov/disease/DMD.html |http://www.dmd.nl/ DBL|UNIGENE:Hs.169470 |UNIGENE:Hs.495922 |UNIGENE:Hs.495924 |OMIM:300377 |SNP:1756 |UWCM:119850.html MAP|Xp21.2 PHP|Becker muscular dystrophy |Cardiomyopathy, dilated, X-linked |Duchenne muscular dystrophy ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|peripheral plasma membrane protein ; GO:0000157 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Dmd; score == 6251; expect == 0.0; MEOW:MGgn0003451 (91%) |species == rat; score == 3013; expect == 0.0; MEOW:ref|XP_229016.2| (88%) |species == rat; score == 3013; expect == 0.0; MEOW:ref|XP_347351.1| (88%) |species == Human; gene == UTRN; score == 1595; expect == 0.0; MEOW:HUgn0007402 (36%) |species == Zfish; gene == dmd; score == 1506; expect == 0.0; MEOW:ZFgn0002226 (69%) |species == Mosquito; score == 762; expect == 0.0; MEOW:AGgn0002882 (41%) |species == Fruitfly; gene == Dys; score == 726; expect == 0.0; MEOW:FBgn0024242 (45%) |species == Worm; gene == M116.5; score == 211; expect == 1.4e-54; MEOW:CEgn0025373 (44%) |species == Worm; gene == unc-70; score == 194; expect == 5.6e-49; MEOW:CEgn0002954 (28%) |species == Worm; gene == dyb-1; score == 177; expect == 1.9e-44; MEOW:CEgn0000439 (27%) } # EOR GENR { RETE|ID 1 HUgn0001757 CHR 1 9 DID 1 LocusLink:1757 MAP 1 9q33-q34 NAM 1 sarcosine dehydrogenase ORG 1 Homo sapiens SYM 1 SARDH ID|HUgn0001757 DID|LocusLink:1757 ORG|Homo sapiens RSQ|REFSEQ:NM_007101 RPA|REFPROT:NP_009032 DBA|XM:NM_007101 |NA:AF047190 |NA:AF095735 |NA:AF095736 |NA:AF095737 |NA:AF129265 |NA:AF162428 |NA:AJ223317 |NA:BC041574 PAC|XP:NP_009032 SYM|SARDH NAM|sarcosine dehydrogenase SYN|SAR |SDH |SARD |DMGDHL1 FNC|sarcosine dehydrogenase CHR|9 PRD|dimethylglycine dehydrogenase-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=198003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1757[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835149 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007101 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007101 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=198003 DBL|UNIGENE:Hs.198003 |OMIM:604455 |SNP:1757 MAP|9q33-q34 PHP|Sarcosinemia |Sarcosine dehydrogenase; flavoenzyme that oxidatively degrades choline to glycine ENZ|sarcosine dehydrogenase activity ; GO:0008480 |electron transporter activity ; GO:0005489 CEL|mitochondrial matrix ; GO:0005759 HG|species == Mouse; gene == Sardh; score == 1672; expect == 0.0; MEOW:MGgn0044816 (88%) |species == rat; score == 1669; expect == 0.0; MEOW:ref|NP_446116.1| (88%) |species == Fruitfly; gene == CG6385; score == 897; expect == 0.0; MEOW:FBgn0034276 (51%) |species == Mosquito; gene == LOC11212; score == 868; expect == 0.0; MEOW:AGgn0011212 (49%) |species == Human; gene == DMGDH; score == 431; expect == 9e-121; MEOW:HUgn0029958 (33%) |species == Worm; gene == Y106G6H.5; score == 295; expect == 5.5e-80; MEOW:CEgn0020241 (27%) |species == Worm; gene == Y37E3.17; score == 238; expect == 1.0e-62; MEOW:CEgn0028256 (25%) } # EOR GENR { RETE|ID 1 HUgn0001758 CHR 1 4 DID 1 LocusLink:1758 MAP 1 4q21 NAM 1 dentin matrix acidic phosphoprotein ORG 1 Homo sapiens SYM 1 DMP1 ID|HUgn0001758 DID|LocusLink:1758 ORG|Homo sapiens RSQ|REFSEQ:NM_004407 RPA|REFPROT:NP_004398 DBA|XM:NM_004407 |NA:U34037 |NA:U65378 |NA:U89012 |NA:none PAC|XP:NP_004398 SYM|DMP1 NAM|dentin matrix acidic phosphoprotein FNC|dentin matrix acidic phosphoprotein |ossification ; GO:0001503 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93465 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1758[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:622139 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004407 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004407 DBL|UNIGENE:Hs.93465 |OMIM:600980 |SNP:1758 MAP|4q21 ENZ|integrin binding ; GO:0005178 |calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 HG|species == chimp; score == 295; expect == 2.0e-80; MEOW:sp|Q8HZC9|Q8HZC9 (97%) } # EOR GENR { RETE|ID 1 HUgn0001759 CHR 1 9 DID 1 LocusLink:1759 MAP 1 9q34 NAM 1 dynamin 1 ORG 1 Homo sapiens SYM 1 DNM1 ID|HUgn0001759 DID|LocusLink:1759 ORG|Homo sapiens RSQ|REFSEQ:NM_004408 RPA|REFPROT:NP_004399 DBA|XM:NM_004408 |NA:BC050279 |NA:L07807 |NA:L07809 |NA:L07810 |NA:none PAC|XP:NP_004399 SYM|DNM1 NAM|dynamin 1 SYN|DNM FNC|dynamin 1 |receptor mediated endocytosis ; GO:0006898 |synaptic transmission ; GO:0007268 CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436132 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1759[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132857 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004408 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004408 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.731+OR+arev.section.736+OR+arev.section.746+OR+arev.section.752+OR+arev.section.768 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436132 DBL|UNIGENE:Hs.436132 |OMIM:602377 |SNP:1759 MAP|9q34 ENZ|GTP binding ; GO:0005525 |dynamine GTPase activity ; GO:0008549 |protein binding ; GO:0005515 |motor activity ; GO:0003774 |hydrolase activity ; GO:0016787 CEL|coated pit ; GO:0005905 HG|species == Mouse; gene == Dnm; score == 1502; expect == 0.0; MEOW:MGgn0003475 (99%) |species == rat; score == 1480; expect == 0.0; MEOW:ref|NP_542420.1| (97%) |species == Mouse; gene == Dnm2; score == 1256; expect == 0.0; MEOW:MGgn0003476 (78%) |species == rat; score == 1251; expect == 0.0; MEOW:ref|NP_037331.1| (82%) |species == Human; gene == DNM2; score == 1230; expect == 0.0; MEOW:HUgn0001785 (81%) |species == Human; gene == KIAA0820; score == 1229; expect == 0.0; MEOW:HUgn0026052 (78%) |species == rat; score == 1226; expect == 0.0; MEOW:ref|NP_612547.1| (77%) |species == Mouse; gene == 9630020E24Rik; score == 1224; expect == 0.0; MEOW:MGgn0041336 (81%) |species == Mosquito; gene == LOC14162; score == 1095; expect == 0.0; MEOW:AGgn0014162 (71%) |species == Mosquito; score == 1095; expect == 0.0; MEOW:AGgn0018217 (71%) |species == Fruitfly; gene == shi; score == 1072; expect == 0.0; MEOW:FBgn0003392 (69%) |species == Worm; gene == dyn-1; score == 1020; expect == 0.0; MEOW:CEgn0000454 (67%) |species == Yeast; gene == DNM1; score == 486; expect == 3e-137; MEOW:SGgn0003924 (37%) |species == rice; score == 471; expect == 2e-132; MEOW:gnl|TIGR|8350.m06516 (47%) |species == Weed; gene == At2g14120; score == 455; expect == 4e-128; MEOW:ATgn0010220 (47%) |species == Weed; gene == At4g33650; score == 454; expect == 1e-127; MEOW:ATgn0018212 (46%) |species == Yeast; gene == VPS1; score == 452; expect == 1e-127; MEOW:SGgn0001709 (46%) |species == rice; score == 404; expect == 3e-112; MEOW:gnl|TIGR|8352.m02882 (48%) |species == Weed; gene == At3g61760; score == 384; expect == 2e-106; MEOW:ATgn0014617 (43%) |species == Weed; gene == At5g42080; score == 384; expect == 2e-106; MEOW:ATgn0022012 (41%) |species == rice; score == 381; expect == 2e-105; MEOW:gnl|TIGR|8353.m04270 (41%) |species == Weed; gene == At3g60190; score == 377; expect == 1e-104; MEOW:ATgn0013167 (42%) |species == Weed; gene == At1g14830; score == 371; expect == 1e-102; MEOW:ATgn0002815 (39%) } # EOR GENR { RETE|ID 1 HUgn0001760 CHR 1 19 DID 1 LocusLink:1760 MAP 1 19q13.3 NAM 1 dystrophia myotonica-protein kinase ORG 1 Homo sapiens SYM 1 DMPK ID|HUgn0001760 DID|LocusLink:1760 ORG|Homo sapiens RSQ|REFSEQ:NM_004409 RPA|REFPROT:NP_004400 DBA|XM:NM_004409 |NA:L00727 |NA:L08835 |NA:L19268 |NA:M87312 |NA:M94203 |NA:S72883 |NA:U46546 |NA:none PAC|XP:NP_004400 SYM|DMPK NAM|dystrophia myotonica-protein kinase SYN|DM |DM1 |DMK FNC|myotonic dystrophy protein kinase |protein amino acid phosphorylation ; GO:0006468 |muscle contraction ; GO:0006936 CHR|19 PRD|dystrophia myotonica 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=898 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1760[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119097 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004409 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004409 |http://www.geneclinics.org/query?mim=160900 |http://www.geneclinics.org/query?mim=605377 |http://www.ncbi.nlm.nih.gov/disease/Myotonic.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.898 |OMIM:605377 |SNP:1760 |UWCM:119097.html ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|19q13.3 PHP|Myotonic dystrophy HG|species == Mouse; gene == Dm15; score == 946; expect == 0.0; MEOW:MGgn0003446 (84%) |species == rat; score == 934; expect == 0.0; MEOW:ref|XP_218411.2| (82%) |species == Human; gene == CDC42BPA; score == 509; expect == 5e-144; MEOW:HUgn0008476 (49%) |species == Human; gene == CDC42BPB; score == 509; expect == 7e-144; MEOW:HUgn0009578 (49%) |species == Human; gene == HSMDPKIN; score == 483; expect == 1e-136; MEOW:HUgn0055561 (51%) |species == Worm; gene == K08B12.5; score == 464; expect == 1e-130; MEOW:CEgn0013492 (54%) |species == Fruitfly; gene == gek; score == 439; expect == 6e-123; MEOW:FBgn0023081 (44%) |species == Mosquito; gene == LOC9214; score == 422; expect == 6e-118; MEOW:AGgn0009214 (45%) |species == Zfish; gene == rock2; score == 352; expect == 1.1e-96; MEOW:ZFgn0010781 (37%) |species == Weed; gene == At2g20470; score == 273; expect == 1.5e-73; MEOW:ATgn0009806 (38%) |species == Weed; gene == At1g03920; score == 272; expect == 4.2e-73; MEOW:ATgn0005345 (38%) |species == Weed; gene == At3g23310; score == 270; expect == 2.1e-72; MEOW:ATgn0015476 (36%) |species == Weed; gene == At4g14350; score == 268; expect == 5.9e-72; MEOW:ATgn0018850 (37%) |species == rice; score == 267; expect == 1.2e-71; MEOW:gnl|TIGR|8362.m02593 (37%) |species == Weed; gene == At4g33080; score == 264; expect == 9.5e-71; MEOW:ATgn0018021 (38%) |species == rice; score == 263; expect == 2.9e-70; MEOW:gnl|TIGR|8350.m00823 (37%) |species == rice; score == 263; expect == 2.5e-70; MEOW:gnl|TIGR|8359.m01854 (37%) |species == Weed; gene == At5g09890; score == 255; expect == 6.2e-68; MEOW:ATgn0022780 (38%) |species == Weed; gene == At2g19400; score == 250; expect == 2.5e-66; MEOW:ATgn0008831 (39%) |species == Weed; gene == At1g30640; score == 249; expect == 4.3e-66; MEOW:ATgn0006547 (35%) |species == rice; score == 227; expect == 1.1e-59; MEOW:gnl|TIGR|8353.m03853 (34%) |species == Yeast; gene == CBK1; score == 219; expect == 1.0e-57; MEOW:SGgn0005105 (34%) |species == Yeast; gene == YPK1; score == 211; expect == 2.8e-55; MEOW:SGgn0001609 (41%) |species == Yeast; gene == YPK2; score == 204; expect == 4.4e-53; MEOW:SGgn0004710 (39%) |species == Yeast; gene == KIN82; score == 194; expect == 4.5e-50; MEOW:SGgn0000687 (33%) |species == Yeast; gene == SCH9; score == 191; expect == 3.9e-49; MEOW:SGgn0001248 (38%) |species == Yeast; gene == YNR047W; score == 191; expect == 2.9e-49; MEOW:SGgn0005330 (34%) |species == chimp; score == 186; expect == 6.0e-49; MEOW:sp|BAC81132|BAC81132 (34%) |species == Yeast; gene == DBF20; score == 179; expect == 1.2e-45; MEOW:SGgn0006315 (31%) |species == Yeast; gene == TPK2; score == 177; expect == 4.4e-45; MEOW:SGgn0006124 (32%) |species == Yeast; gene == TPK1; score == 176; expect == 1.3e-44; MEOW:SGgn0003700 (34%) } # EOR GENR { RETE|ID 1 HUgn0001761 CHR 1 9 DID 1 LocusLink:1761 MAP 1 9p24.3 NAM 1 doublesex and mab-3 related transcription factor 1 ORG 1 Homo sapiens SYM 1 DMRT1 ID|HUgn0001761 DID|LocusLink:1761 ORG|Homo sapiens RSQ|REFSEQ:NM_021951 RPA|REFPROT:NP_068770 DBA|XM:NM_021951 |NA:AL136365 |NA:AF130728 |NA:AJ276801 |NA:AL162131 |NA:BC040847 |NA:none PAC|XP:NP_068770 SYM|DMRT1 NAM|doublesex and mab-3 related transcription factor 1 SYN|DMT1 FNC|doublesex and mab-3 related transcription factor 1 |male gonad development ; GO:0008584 |sex determination ; GO:0007530 |sex differentiation ; GO:0007548 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|9 PRD|doublesex and mab-3 related in testis 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=98586 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1761[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864265 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021951 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021951 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=98586 DBL|UNIGENE:Hs.98586 |OMIM:602424 |SNP:1761 MAP|9p24.3 PHP|XY sex reversal ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 478; expect == 2e-135; MEOW:ref|NP_446158.1| (79%) |species == Mouse; gene == Dmrt1; score == 475; expect == 1e-134; MEOW:MGgn0013752 (79%) } # EOR GENR { RETE|ID 1 HUgn0001762 CHR 1 19 DID 1 LocusLink:1762 MAP 1 19q13.3 NAM 1 dystrophia myotonica-containing WD repeat motif ORG 1 Homo sapiens SYM 1 DMWD ID|HUgn0001762 DID|LocusLink:1762 ORG|Homo sapiens DBA|XM:XM_351205 |NA:L08835 |NA:BC019266 |NA:BC041034 |NA:BT006798 |NA:L19267 |NA:none PAC|XP:XP_351206 SYM|DMWD NAM|dystrophia myotonica-containing WD repeat motif SYN|59 |DMR-N9 |D19S593E CHR|19 PRD|protein 59 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=275924 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7178354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=L19267 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=L19267 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=275924 DBL|UNIGENE:Hs.275924 |SNP:1762 MAP|19q13.3 ENZ|molecular_function unknown ; GO:0005554 FNC|meiosis ; GO:0007126 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Dm9; score == 255; expect == 6.2e-68; MEOW:MGgn0003447 (93%) |species == Human; gene == WDR20; score == 134; expect == 3.3e-32; MEOW:HUgn0091833 (44%) |species == rat; score == 134; expect == 3.3e-32; MEOW:ref|XP_234540.2| (44%) } # EOR GENR { RETE|ID 1 HUgn0001763 CHR 1 10 DID 1 LocusLink:1763 MAP 1 10q21.3-q22.1 NAM 1 DNA2 DNA replication helicase 2-like (yeast) ORG 1 Homo sapiens SYM 1 DNA2L ID|HUgn0001763 DID|LocusLink:1763 ORG|Homo sapiens DBA|XM:XM_166103 |NA:BC028188 |NA:BC041115 |NA:BC053574 |NA:D42046 |NA:none PAC|XP:XP_166103 SYM|DNA2L NAM|DNA2 DNA replication helicase 2-like (yeast) SYN|KIAA0083 CHR|10 PRD|DNA2 (DNA replication helicase, yeast, homolog)-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194665 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1763[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1313702 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=D42046 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=D42046 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=194665 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0083 DBL|UNIGENE:Hs.194665 |OMIM:601810 |SNP:1763 MAP|10q21.3-q22.1 ENZ|helicase activity ; GO:0004386 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 HG|species == Mouse; gene == E130315B21Rik; score == 1681; expect == 0.0; MEOW:MGgn0043777 (80%) |species == rat; score == 1647; expect == 0.0; MEOW:ref|XP_241671.2| (78%) |species == Fruitfly; gene == CG2990; score == 507; expect == 8e-144; MEOW:FBgn0030170 (33%) |species == Mosquito; score == 488; expect == 3e-138; MEOW:AGgn0002028 (33%) |species == rice; score == 479; expect == 3e-135; MEOW:gnl|TIGR|8352.m04639 (33%) |species == Weed; gene == At1g08840; score == 474; expect == 9e-134; MEOW:ATgn0002877 (33%) |species == Yeast; gene == DNA2; score == 441; expect == 4e-124; MEOW:SGgn0001207 (32%) |species == Worm; gene == dna-2; score == 421; expect == 6e-118; MEOW:CEgn0010764 (31%) |species == Human; gene == RENT1; score == 175; expect == 1.2e-43; MEOW:HUgn0005976 (29%) |species == Human; gene == IGHMBP2; score == 171; expect == 2.9e-42; MEOW:HUgn0003508 (25%) } # EOR GENR { RETE|ID 1 HUgn0001764 CHR 1 3 DID 1 LocusLink:1764 MAP 1 3p21 NAM 1 dynein, axonemal, heavy polypeptide 1 ORG 1 Homo sapiens SYM 1 DNAH1 ID|HUgn0001764 DID|LocusLink:1764 ORG|Homo sapiens DBA|NA:U83571 |NA:AJ132083 |NA:U61738 |NA:Z83804 SYM|DNAH1 NAM|dynein, axonemal, heavy polypeptide 1 SYN|HL11 |HDHC7 |HL-11 |DNAHC1 CHR|3 PRD|Dynein, axonemal, heavy chain-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9740 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683302 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AJ132083 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AJ132083 DBL|UNIGENE:Hs.9740 |OMIM:603332 MAP|3p21 PHP|Axonemal dynein heavy chain 1; may function as a motor protein; member of a family of ATPases ENZ|axonemal motor activity ; GO:0003775 |adenosinetriphosphatase activity ; GO:0004002 CEL|axonemal dynein complex ; GO:0005858 } # EOR GENR { RETE|ID 1 HUgn0001765 CHR 1 17 DID 1 LocusLink:1765 MAP 1 17 NAM 1 dynein, axonemal, heavy polypeptide 2 ORG 1 Homo sapiens SYM 1 DNAH2 ID|HUgn0001765 DID|LocusLink:1765 ORG|Homo sapiens DBA|NA:U83570 SYM|DNAH2 NAM|dynein, axonemal, heavy polypeptide 2 SYN|DNAHC2 CHR|17 PRD|Dynein, axonemal, heavy chain-2 DBL|OMIM:603333 MAP|17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683303 ENZ|microtubule motor activity ; GO:0003777 CEL|axonemal dynein complex ; GO:0005858 FNC|ciliary/flagellar motility ; GO:0001539 } # EOR GENR { RETE|ID 1 HUgn0001767 CHR 1 5 DID 1 LocusLink:1767 MAP 1 5p15.2 NAM 1 dynein, axonemal, heavy polypeptide 5 ORG 1 Homo sapiens SYM 1 DNAH5 ID|HUgn0001767 DID|LocusLink:1767 ORG|Homo sapiens RSQ|REFSEQ:NM_001369 RPA|REFPROT:NP_001360 DBA|XM:NM_001369 |NA:AB046823 |NA:AJ132090 |NA:AK026756 |NA:AK055138 |NA:AY045575 |NA:AY049075 |NA:U61735 PAC|XP:NP_001360 SYM|DNAH5 NAM|dynein, axonemal, heavy polypeptide 5 SYN|HL1 |PCD |CILD3 |Dnahc5 |KIAA1603 FNC|dynein, axonemal, heavy polypeptide 5 |microtubule-based movement ; GO:0007018 |proteolysis and peptidolysis ; GO:0006508 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=398124 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1767[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683307 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001369 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001369 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA1603 DBL|UNIGENE:Hs.398124 |OMIM:603335 |SNP:1767 MAP|5p15.2 PHP|Kartagener syndrome |Primary ciliary dyskinesia ENZ|nucleotide binding ; GO:0000166 |microtubule motor activity ; GO:0003777 |ATP binding ; GO:0005524 |cysteine-type endopeptidase activity ; GO:0004197 |dynein ATPase activity ; GO:0008567 CEL|dynein complex ; GO:0030286 HG|species == Mouse; gene == Dnahc5; score == 8076; expect == 0.0; MEOW:MGgn0003461 (89%) |species == Human; gene == DNAH8; score == 5521; expect == 0.0; MEOW:HUgn0001769 (61%) |species == Mosquito; gene == LOC12927; score == 4861; expect == 0.0; MEOW:AGgn0012927 (54%) |species == Fruitfly; gene == CG9492; score == 4762; expect == 0.0; MEOW:FBgn0037726 (53%) |species == Mosquito; score == 4490; expect == 0.0; MEOW:AGgn0009294 (52%) |species == rat; score == 4316; expect == 0.0; MEOW:ref|XP_226891.2| (90%) |species == Worm; gene == dhc-1; score == 1239; expect == 0.0; MEOW:CEgn0000400 (27%) |species == Yeast; gene == DYN1; score == 453; expect == 8e-127; MEOW:SGgn0001762 (26%) } # EOR GENR { RETE|ID 1 HUgn0001768 CHR 1 6 DID 1 LocusLink:1768 NAM 1 dynein, axonemal, heavy polypeptide 6 ORG 1 Homo sapiens SYM 1 DNAH6 ID|HUgn0001768 DID|LocusLink:1768 ORG|Homo sapiens DBA|NA:AJ132086 |NA:U61736 SYM|DNAH6 NAM|dynein, axonemal, heavy polypeptide 6 SYN|HL2 |HL-2 |Dnahc6 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381270 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683308 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AJ132086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AJ132086 DBL|UNIGENE:Hs.381270 |OMIM:603336 PHP|Axonemal dynein heavy chain 6, member of a family of ATPases; may function as a motor protein; member of a family of ATPases ENZ|motor activity ; GO:0003774 |adenosinetriphosphatase activity ; GO:0004002 CEL|cytoskeleton ; GO:0005856 } # EOR GENR { RETE|ID 1 HUgn0001769 CHR 1 6 DID 1 LocusLink:1769 MAP 1 6p21.31-p21.1 NAM 1 dynein, axonemal, heavy polypeptide 8 ORG 1 Homo sapiens SYM 1 DNAH8 ID|HUgn0001769 DID|LocusLink:1769 ORG|Homo sapiens RSQ|REFSEQ:NM_001371 RPA|REFPROT:NP_001362 DBA|XM:NM_001371 |NA:AL034345 |NA:AF356519 |NA:AJ132091 |NA:Z83806 PAC|XP:NP_001362 SYM|DNAH8 NAM|dynein, axonemal, heavy polypeptide 8 SYN|hdhc9 FNC|dynein, axonemal, heavy polypeptide 8 |microtubule-based movement ; GO:0007018 |proteolysis and peptidolysis ; GO:0006508 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172101 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1769[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683309 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001371 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001371 DBL|UNIGENE:Hs.172101 |OMIM:603337 |SNP:1769 MAP|6p21.31-p21.1 ENZ|nucleotide binding ; GO:0000166 |microtubule motor activity ; GO:0003777 |ATP binding ; GO:0005524 |cysteine-type endopeptidase activity ; GO:0004197 |dynein ATPase activity ; GO:0008567 CEL|dynein complex ; GO:0030286 HG|species == Mouse; gene == Dnahc8; score == 8197; expect == 0.0; MEOW:MGgn0003463 (93%) |species == Human; gene == DNAH5; score == 5521; expect == 0.0; MEOW:HUgn0001767 (61%) |species == rat; score == 5197; expect == 0.0; MEOW:ref|XP_228058.2| (91%) |species == Mosquito; gene == LOC12927; score == 4655; expect == 0.0; MEOW:AGgn0012927 (53%) |species == Mosquito; score == 4543; expect == 0.0; MEOW:AGgn0009294 (52%) |species == Fruitfly; gene == CG9492; score == 4268; expect == 0.0; MEOW:FBgn0037726 (58%) |species == Mosquito; score == 3837; expect == 0.0; MEOW:AGgn0026030 (60%) |species == Worm; gene == dhc-1; score == 1182; expect == 0.0; MEOW:CEgn0000400 (27%) |species == Yeast; gene == DYN1; score == 690; expect == 0.0; MEOW:SGgn0001762 (23%) } # EOR GENR { RETE|ID 1 HUgn0001770 CHR 1 17 DID 1 LocusLink:1770 MAP 1 17p12 NAM 1 dynein, axonemal, heavy polypeptide 9 ORG 1 Homo sapiens SYM 1 DNAH9 ID|HUgn0001770 DID|LocusLink:1770 ORG|Homo sapiens RSQ|REFSEQ:NM_001372 |REFSEQ:NM_004662 RPA|REFPROT:NP_001363 |REFPROT:NP_004653 DBA|XM:NM_001372 |XM:NM_004662 |NA:AB002355 |NA:AF015265 |NA:AF257737 |NA:AJ132088 |NA:AJ404468 |NA:AK055990 |NA:U61740 |NA:X99947 PAC|XP:NP_001363 |XP:NP_004653 SYM|DNAH9 NAM|dynein, axonemal, heavy polypeptide 9 SYN|DYH9 |HL20 |DNAL1 |DNEL1 |HL-20 |Dnahc9 |DNAH17L |KIAA0357 FNC|dynein, axonemal, heavy polypeptide 9 isoform 1 |dynein, axonemal, heavy polypeptide 9 isoform 2 |spermatogenesis ; GO:0007283 |cell motility ; GO:0006928 REAB|This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit |molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to |mediate the movement of cilia and flagella. The gene expresses at least two transcript |variants; additional variants have been described, but their full length nature |has not been determined. CHR|17 PRD|ciliary dynein heavy chain |dynein, axonemal, heavy polypeptide 17-like |dynein, axonemal, light intermediate chain 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409174 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1770[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9785683 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001372 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001372 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0357 DBL|UNIGENE:Hs.409174 |OMIM:603330 |SNP:1770 MAP|17p12 ENZ|motor activity ; GO:0003774 |adenosinetriphosphatase activity ; GO:0004002 CEL|cytoskeleton ; GO:0005856 HG|species == Mosquito; score == 5286; expect == 0.0; MEOW:AGgn0027741 (60%) |species == Mosquito; score == 5246; expect == 0.0; MEOW:AGgn0027408 (60%) |species == Human; gene == DNAH11; score == 5184; expect == 0.0; MEOW:HUgn0008701 (59%) |species == Fruitfly; gene == Dhc93AB; score == 5143; expect == 0.0; MEOW:FBgn0013812 (59%) |species == Mouse; gene == Dnahc11; score == 5139; expect == 0.0; MEOW:MGgn0003457 (58%) |species == Mosquito; gene == LOC22156; score == 4766; expect == 0.0; MEOW:AGgn0022156 (56%) |species == rat; score == 3919; expect == 0.0; MEOW:ref|XP_213534.2| (60%) |species == Worm; gene == dhc-1; score == 1220; expect == 0.0; MEOW:CEgn0000400 (28%) |species == Yeast; gene == DYN1; score == 762; expect == 0.0; MEOW:SGgn0001762 (22%) } # EOR GENR { RETE|ID 1 HUgn0001771 DID 1 LocusLink:1771 NAM 1 dynein, axonemal, heavy polypeptide 13 ORG 1 Homo sapiens SYM 1 DNAH13 ID|HUgn0001771 DID|LocusLink:1771 ORG|Homo sapiens SYM|DNAH13 NAM|dynein, axonemal, heavy polypeptide 13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683310 } # EOR GENR { RETE|ID 1 HUgn0001772 CHR 1 1 DID 1 LocusLink:1772 MAP 1 1 NAM 1 dynein, axonemal, heavy polypeptide 14 ORG 1 Homo sapiens SYM 1 DNAH14 ID|HUgn0001772 DID|LocusLink:1772 ORG|Homo sapiens DBA|NA:U61741 SYM|DNAH14 NAM|dynein, axonemal, heavy polypeptide 14 SYN|HL18 |HL-18 |Dnahc14 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381271 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5812887 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U61741 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U61741 DBL|UNIGENE:Hs.381271 |OMIM:603341 MAP|1 ENZ|microtubule motor activity ; GO:0003777 FNC|biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0001773 CHR 1 16 DID 1 LocusLink:1773 MAP 1 16p13.3 NAM 1 deoxyribonuclease I ORG 1 Homo sapiens SYM 1 DNASE1 ID|HUgn0001773 DID|LocusLink:1773 ORG|Homo sapiens RSQ|REFSEQ:NM_005223 RPA|REFPROT:NP_005214 DBA|XM:NM_005223 |NA:AC005203 |NA:D83195 |NA:AJ298844 |NA:BC029437 |NA:M55983 |NA:none PAC|XP:NP_005214 SYM|DNASE1 NAM|deoxyribonuclease I SYN|DNL1 FNC|deoxyribonuclease I |apoptosis ; GO:0006915 |DNA catabolism ; GO:0006308 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436928 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1773[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132846 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005223 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005223 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436928 DBL|UNIGENE:Hs.436928 |OMIM:125505 |SNP:1773 ENZ|EC:3.1.21.1 |deoxyribonuclease activity ; GO:0004536 |endonuclease activity ; GO:0004519 |actin binding ; GO:0003779 |deoxyribonuclease I activity ; GO:0004530 |hydrolase activity ; GO:0016787 MAP|16p13.3 CEL|extracellular ; GO:0005576 HG|species == rat; score == 438; expect == 2e-123; MEOW:ref|NP_037229.1| (79%) |species == Mouse; gene == Dnase1; score == 437; expect == 3e-123; MEOW:MGgn0003465 (80%) |species == Human; gene == DNASE1L2; score == 271; expect == 2.9e-73; MEOW:HUgn0001775 (50%) |species == Human; gene == DNASE1L3; score == 233; expect == 8.8e-62; MEOW:HUgn0001776 (45%) } # EOR GENR { RETE|ID 1 HUgn0001774 CHR 1 X DID 1 LocusLink:1774 MAP 1 Xq28 NAM 1 deoxyribonuclease I-like 1 ORG 1 Homo sapiens SYM 1 DNASE1L1 ID|HUgn0001774 DID|LocusLink:1774 ORG|Homo sapiens RSQ|REFSEQ:NM_006730 RPA|REFPROT:NP_006721 DBA|XM:NM_006730 |NA:L40817 |NA:L44140 |NA:BC001561 |NA:BC028092 |NA:L40823 |NA:U06846 |NA:X90392 |NA:none PAC|XP:NP_006721 SYM|DNASE1L1 NAM|deoxyribonuclease I-like 1 SYN|XIB |DNL1L |DNAS1L1 FNC|deoxyribonuclease I-like 1 |DNA catabolism ; GO:0006308 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77091 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1774[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:567391 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006730 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006730 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77091 DBL|UNIGENE:Hs.77091 |OMIM:300081 |SNP:1774 ENZ|EC:3.1.21.- |deoxyribonuclease activity ; GO:0004536 |endonuclease activity ; GO:0004519 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 MAP|Xq28 HG|species == Mouse; gene == 2310005K03Rik; score == 360; expect == 3e-100; MEOW:MGgn0019545 (73%) |species == rat; score == 292; expect == 1.6e-79; MEOW:ref|XP_343847.1| (60%) |species == Human; gene == DNASE1L3; score == 228; expect == 2.4e-60; MEOW:HUgn0001776 (41%) |species == Human; gene == DNASE1L2; score == 185; expect == 3.0e-47; MEOW:HUgn0001775 (39%) } # EOR GENR { RETE|ID 1 HUgn0001775 CHR 1 16 DID 1 LocusLink:1775 MAP 1 16p13.3 NAM 1 deoxyribonuclease I-like 2 ORG 1 Homo sapiens SYM 1 DNASE1L2 ID|HUgn0001775 DID|LocusLink:1775 ORG|Homo sapiens RSQ|REFSEQ:NM_001374 RPA|REFPROT:NP_001365 DBA|XM:NM_001374 |NA:AK098028 |NA:BC035205 |NA:U62647 |NA:none PAC|XP:NP_001365 SYM|DNASE1L2 NAM|deoxyribonuclease I-like 2 SYN|DNAS1L2 FNC|deoxyribonuclease I-like 2 |DNA catabolism ; GO:0006308 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=103503 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1775[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6108044 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001374 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001374 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=103503 DBL|UNIGENE:Hs.103503 |OMIM:602622 |SNP:1775 MAP|16p13.3 ENZ|deoxyribonuclease activity ; GO:0004536 |endonuclease activity ; GO:0004519 |calcium ion binding ; GO:0005509 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 HG|species == rat; score == 458; expect == 6e-129; MEOW:ref|XP_213244.2| (77%) |species == Mouse; gene == Dnase1l2; score == 452; expect == 1e-127; MEOW:MGgn0022955 (76%) |species == Human; gene == DNASE1; score == 271; expect == 2.9e-73; MEOW:HUgn0001773 (50%) } # EOR GENR { RETE|ID 1 HUgn0001776 CHR 1 3 DID 1 LocusLink:1776 MAP 1 3p21.1-3p14.3 NAM 1 deoxyribonuclease I-like 3 ORG 1 Homo sapiens SYM 1 DNASE1L3 ID|HUgn0001776 DID|LocusLink:1776 ORG|Homo sapiens RSQ|REFSEQ:NM_004944 RPA|REFPROT:NP_004935 DBA|XM:NM_004944 |NA:AF047354 |NA:BC015831 |NA:U56814 |NA:U75744 |NA:none PAC|XP:NP_004935 SYM|DNASE1L3 NAM|deoxyribonuclease I-like 3 SYN|LSD |DNAS1L3 FNC|deoxyribonuclease I-like 3 |apoptosis ; GO:0006915 |DNA catabolism ; GO:0006308 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=88646 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1776[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6108045 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004944 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004944 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=88646 DBL|UNIGENE:Hs.88646 |OMIM:602244 |SNP:1776 MAP|3p21.1-3p14.3 ENZ|deoxyribonuclease activity ; GO:0004536 |endonuclease activity ; GO:0004519 |calcium ion binding ; GO:0005509 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == rat; score == 512; expect == 1e-145; MEOW:ref|NP_446359.1| (85%) |species == Mouse; gene == Dnase1l3; score == 504; expect == 2e-143; MEOW:MGgn0003467 (82%) |species == Human; gene == DNASE1; score == 233; expect == 8.8e-62; MEOW:HUgn0001773 (45%) |species == Human; gene == DNASE1L1; score == 228; expect == 2.4e-60; MEOW:HUgn0001774 (41%) |species == Human; gene == DNASE1L2; score == 215; expect == 2.1e-56; MEOW:HUgn0001775 (42%) } # EOR GENR { RETE|ID 1 HUgn0001777 CHR 1 19 DID 1 LocusLink:1777 MAP 1 19p13.2 NAM 1 deoxyribonuclease II, lysosomal ORG 1 Homo sapiens SYM 1 DNASE2 ID|HUgn0001777 DID|LocusLink:1777 ORG|Homo sapiens RSQ|REFSEQ:NM_001375 RPA|REFPROT:NP_001366 DBA|XM:NM_001375 |NA:AB004574 |NA:AF045937 |NA:AF047016 |NA:AF060222 |NA:AK075449 |NA:BC010419 |NA:BT007047 |NA:none PAC|XP:NP_001366 SYM|DNASE2 NAM|deoxyribonuclease II, lysosomal SYN|DNL |DNL2 FNC|deoxyribonuclease II, lysosomal |apoptosis ; GO:0006915 |DNA metabolism ; GO:0006259 CHR|19 PRD|DNase II, lysosomal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118243 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1777[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119099 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001375 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001375 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118243 DBL|UNIGENE:Hs.118243 |OMIM:126350 |SNP:1777 MAP|19p13.2 ENZ|deoxyribonuclease II activity ; GO:0004531 |endonuclease activity ; GO:0004519 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Dnase2a; score == 520; expect == 6e-148; MEOW:MGgn0003469 (72%) |species == rat; score == 513; expect == 8e-146; MEOW:ref|NP_612548.1| (72%) |species == Human; gene == DLAD; score == 234; expect == 7.1e-62; MEOW:HUgn0058511 (37%) |species == Mosquito; gene == LOC2052; score == 203; expect == 1.9e-52; MEOW:AGgn0002052 (32%) |species == Worm; gene == F09G8.2; score == 195; expect == 3.8e-50; MEOW:CEgn0008045 (34%) |species == Fruitfly; gene == DNaseII; score == 182; expect == 3.3e-46; MEOW:FBgn0000477 (32%) |species == Mosquito; score == 179; expect == 1.4e-45; MEOW:AGgn0002045 (37%) } # EOR GENR { RETE|ID 1 HUgn0001778 CHR 1 14 DID 1 LocusLink:1778 MAP 1 14q32.3-qter NAM 1 dynein, cytoplasmic, heavy polypeptide 1 ORG 1 Homo sapiens SYM 1 DNCH1 ID|HUgn0001778 DID|LocusLink:1778 ORG|Homo sapiens RSQ|REFSEQ:NM_001376 RPA|REFPROT:NP_001367 DBA|XM:NM_001376 |NA:AB002323 |NA:AI302138 |NA:AK023747 |NA:AK095415 |NA:AL833600 |NA:BC021297 |NA:BM976324 |NA:L23958 |NA:U53530 |NA:U61737 |NA:none PAC|XP:NP_001367 SYM|DNCH1 NAM|dynein, cytoplasmic, heavy polypeptide 1 SYN|p22 |DHC1 |DNCL |DYHC |HL-3 |CDC23 |DHC1a |DNECL |Dnchc1 |KIAA0325 FNC|dynein, cytoplasmic, heavy polypeptide 1 |mitotic spindle assembly ; GO:0007052 |microtubule-based movement ; GO:0007018 CHR|14 PRD|cell division cycle 23 |dynein, cytoplasmic-like |dynein heavy chain, cytosolic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7720 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1778[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:307437 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001376 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001376 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0325 DBL|UNIGENE:Hs.7720 |OMIM:600112 |SNP:1778 MAP|14q32.3-qter ENZ|nucleotide binding ; GO:0000166 |microtubule motor activity ; GO:0003777 |ATP binding ; GO:0005524 |dynein ATPase activity ; GO:0008567 CEL|cytoplasmic dynein complex ; GO:0005868 HG|species == Mouse; gene == Dnchc1; score == 1640; expect == 0.0; MEOW:MGgn0003470 (98%) |species == Mosquito; gene == LOC22463; score == 1062; expect == 0.0; MEOW:AGgn0022463 (62%) |species == Fruitfly; gene == Dhc64C; score == 1062; expect == 0.0; MEOW:FBgn0010349 (62%) |species == Worm; gene == dhc-1; score == 742; expect == 0.0; MEOW:CEgn0000400 (46%) |species == Human; gene == DNCH2; score == 248; expect == 1.3e-65; MEOW:HUgn0079659 (27%) |species == Human; gene == DNAH9; score == 229; expect == 4.9e-60; MEOW:HUgn0001770 (24%) |species == Human; gene == DNAH7; score == 226; expect == 3.1e-59; MEOW:HUgn0056171 (24%) |species == rat; score == 213; expect == 4.8e-55; MEOW:ref|XP_228058.2| (24%) |species == Human; gene == DNAH5; score == 211; expect == 1.8e-54; MEOW:HUgn0001767 (22%) |species == Human; gene == DNAH8; score == 211; expect == 1.0e-54; MEOW:HUgn0001769 (24%) |species == Human; gene == DNAH11; score == 211; expect == 1.4e-54; MEOW:HUgn0008701 (24%) |species == Human; gene == DNAH3; score == 208; expect == 1.2e-53; MEOW:HUgn0055567 (25%) |species == Human; gene == FLJ23529; score == 208; expect == 1.5e-53; MEOW:HUgn0079964 (23%) |species == Human; gene == XLHSRF-1; score == 206; expect == 4.4e-53; MEOW:HUgn0025981 (24%) |species == rat; score == 206; expect == 4.5e-53; MEOW:ref|XP_224615.2| (22%) |species == rat; score == 177; expect == 2.9e-44; MEOW:ref|XP_340824.1| (24%) |species == rat; score == 174; expect == 1.9e-43; MEOW:ref|XP_226891.2| (24%) } # EOR GENR { RETE|ID 1 HUgn0001780 CHR 1 7 DID 1 LocusLink:1780 MAP 1 7q21.3-q22.1 NAM 1 dynein, cytoplasmic, intermediate polypeptide 1 ORG 1 Homo sapiens SYM 1 DNCI1 ID|HUgn0001780 DID|LocusLink:1780 ORG|Homo sapiens RSQ|REFSEQ:NM_004411 RPA|REFPROT:NP_004402 DBA|XM:NM_004411 |XM:NM_004411 |NA:AF063228 |NA:AF123074 |NA:AK091339 |NA:BC012504 |NA:BC022540 |NA:BC032945 |NA:BC037854 |NA:BC053542 |NA:none PAC|XP:NP_004402 |XP:NP_004402 SYM|DNCI1 NAM|dynein, cytoplasmic, intermediate polypeptide 1 SYN|DNCIC1 FNC|dynein, cytoplasmic, intermediate polypeptide 1 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65248 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1780[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683313 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004411 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004411 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=65248 DBL|UNIGENE:Hs.65248 |OMIM:603772 |SNP:1780 MAP|7q21.3-q22.1 ENZ|motor activity ; GO:0003774 CEL|cytoplasmic dynein complex ; GO:0005868 |cytoskeleton ; GO:0005856 HG|species == rat; score == 1201; expect == 0.0; MEOW:ref|NP_062107.1| (97%) |species == Mouse; gene == Dncic1; score == 1156; expect == 0.0; MEOW:MGgn0003472 (94%) |species == Human; gene == DNCI2; score == 926; expect == 0.0; MEOW:HUgn0001781 (75%) |species == Fruitfly; gene == sw; score == 575; expect == 2e-164; MEOW:FBgn0003654 (62%) |species == Mosquito; score == 562; expect == 2e-160; MEOW:AGgn0007994 (61%) |species == Fruitfly; gene == CG32823; score == 532; expect == 1e-151; MEOW:FBgn0052823 (59%) |species == Fruitfly; gene == Sdic; score == 469; expect == 9e-133; MEOW:FBgn0025801 (54%) |species == Worm; gene == C17H12.1; score == 379; expect == 2e-105; MEOW:CEgn0005056 (36%) } # EOR GENR { RETE|ID 1 HUgn0001781 CHR 1 2 DID 1 LocusLink:1781 MAP 1 2q31.1 NAM 1 dynein, cytoplasmic, intermediate polypeptide 2 ORG 1 Homo sapiens SYM 1 DNCI2 ID|HUgn0001781 DID|LocusLink:1781 ORG|Homo sapiens RSQ|REFSEQ:NM_001378 RPA|REFPROT:NP_001369 DBA|XM:NM_001378 |NA:AF134477 |NA:AF250307 |NA:AK026574 |NA:AK055491 |NA:AK096579 |NA:AL137519 |NA:AL832832 |NA:BX537412 |NA:U39575 |NA:none PAC|XP:NP_001369 SYM|DNCI2 NAM|dynein, cytoplasmic, intermediate polypeptide 2 SYN|IC2 FNC|dynein, cytoplasmic, intermediate polypeptide 2 |microtubule-based movement ; GO:0007018 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87372 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1781[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683314 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001378 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001378 DBL|UNIGENE:Hs.87372 |OMIM:603331 |SNP:1781 MAP|2q31.1 ENZ|microtubule motor activity ; GO:0003777 CEL|cytoplasm ; GO:0005737 |dynein complex ; GO:0030286 HG|species == rat; score == 1145; expect == 0.0; MEOW:ref|NP_446332.1| (97%) |species == Mouse; gene == Dncic2; score == 1058; expect == 0.0; MEOW:MGgn0003473 (93%) |species == Human; gene == DNCI1; score == 926; expect == 0.0; MEOW:HUgn0001780 (75%) |species == Mouse; gene == Dncic1; score == 917; expect == 0.0; MEOW:MGgn0003472 (75%) |species == rat; score == 916; expect == 0.0; MEOW:ref|NP_062107.1| (75%) |species == Fruitfly; gene == sw; score == 581; expect == 4e-166; MEOW:FBgn0003654 (63%) |species == Mosquito; score == 575; expect == 2e-164; MEOW:AGgn0007994 (60%) |species == Fruitfly; gene == CG32823; score == 545; expect == 1e-155; MEOW:FBgn0052823 (52%) |species == Fruitfly; gene == Sdic; score == 479; expect == 1e-135; MEOW:FBgn0025801 (47%) |species == Worm; gene == C17H12.1; score == 380; expect == 1e-105; MEOW:CEgn0005056 (44%) } # EOR GENR { RETE|ID 1 HUgn0001783 CHR 1 16 DID 1 LocusLink:1783 MAP 1 16q22.1 NAM 1 dynein, cytoplasmic, light intermediate polypeptide 2 ORG 1 Homo sapiens SYM 1 DNCLI2 ID|HUgn0001783 DID|LocusLink:1783 ORG|Homo sapiens RSQ|REFSEQ:NM_006141 RPA|REFPROT:NP_006132 DBA|XM:NM_006141 |NA:AF035812 |NA:BC010928 |NA:BC022934 |NA:BC025959 |NA:BC036633 |NA:none PAC|XP:NP_006132 SYM|DNCLI2 NAM|dynein, cytoplasmic, light intermediate polypeptide 2 SYN|LIC2 FNC|dynein, cytoplasmic, light intermediate polypeptide 2 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=369068 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1783[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:683315 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006141 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006141 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=369068 DBL|UNIGENE:Hs.369068 |SNP:1783 MAP|16q22.1 ENZ|ATP binding ; GO:0005524 |motor activity ; GO:0003774 CEL|cytoplasmic dynein complex ; GO:0005868 HG|species == rat; score == 920; expect == 0.0; MEOW:ref|NP_112288.1| (91%) |species == Mouse; gene == Dnclic1; score == 634; expect == 0.0; MEOW:MGgn0028525 (63%) |species == Human; gene == DNCLI1; score == 624; expect == 4e-179; MEOW:HUgn0051143 (62%) |species == Mosquito; score == 400; expect == 5e-112; MEOW:AGgn0001598 (47%) |species == Fruitfly; gene == Dlic2; score == 290; expect == 9.6e-79; MEOW:FBgn0030276 (41%) } # EOR GENR { RETE|ID 1 HUgn0001784 CHR 1 9 DID 1 LocusLink:1784 MAP 1 9q12 NAM 1 DNA associated with cytoplasmic membrane ORG 1 Homo sapiens SYM 1 DNCM ID|HUgn0001784 DID|LocusLink:1784 ORG|Homo sapiens DBA|NA:M25182 SYM|DNCM NAM|DNA associated with cytoplasmic membrane SYN|cmDNA CHR|9 PRD|Cytoplasmic membrane DNA DBL|OMIM:126330 MAP|9q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119098 } # EOR GENR { RETE|ID 1 HUgn0001785 CHR 1 19 DID 1 LocusLink:1785 MAP 1 19p13.2 NAM 1 dynamin 2 ORG 1 Homo sapiens SYM 1 DNM2 ID|HUgn0001785 DID|LocusLink:1785 ORG|Homo sapiens RSQ|REFSEQ:NM_004945 RPA|REFPROT:NP_004936 DBA|XM:NM_004945 |NA:BC039596 |NA:BC054501 |NA:L36983 |NA:none PAC|XP:NP_004936 SYM|DNM2 NAM|dynamin 2 SYN|DYNII FNC|dynamin 2 |G2/M transition of mitotic cell cycle ; GO:0000086 |endocytosis ; GO:0006897 CHR|19 PRD|Dynamin II URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432832 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1785[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696233 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004945 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004945 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.768+OR+arev.section.731+OR+arev.section.736+OR+arev.section.745+OR+arev.section.746 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=432832 DBL|UNIGENE:Hs.432832 |OMIM:602378 |SNP:1785 MAP|19p13.2 ENZ|microtubule binding ; GO:0008017 |GTP binding ; GO:0005525 |dynamine GTPase activity ; GO:0008549 |motor activity ; GO:0003774 |hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Dnm2; score == 1490; expect == 0.0; MEOW:MGgn0003476 (97%) |species == rat; score == 1454; expect == 0.0; MEOW:ref|NP_037331.1| (97%) |species == Mouse; gene == Dnm; score == 1233; expect == 0.0; MEOW:MGgn0003475 (81%) |species == Human; gene == DNM1; score == 1230; expect == 0.0; MEOW:HUgn0001759 (81%) |species == rat; score == 1224; expect == 0.0; MEOW:ref|NP_542420.1| (80%) |species == Mouse; gene == 9630020E24Rik; score == 1216; expect == 0.0; MEOW:MGgn0041336 (79%) |species == Human; gene == KIAA0820; score == 1209; expect == 0.0; MEOW:HUgn0026052 (82%) |species == rat; score == 1204; expect == 0.0; MEOW:ref|NP_612547.1| (81%) |species == Mosquito; gene == LOC14162; score == 1082; expect == 0.0; MEOW:AGgn0014162 (72%) |species == Mosquito; score == 1082; expect == 0.0; MEOW:AGgn0018217 (72%) |species == Fruitfly; gene == shi; score == 1051; expect == 0.0; MEOW:FBgn0003392 (68%) |species == Worm; gene == dyn-1; score == 1008; expect == 0.0; MEOW:CEgn0000454 (67%) |species == Yeast; gene == DNM1; score == 478; expect == 5e-135; MEOW:SGgn0003924 (37%) |species == Weed; gene == At4g33650; score == 455; expect == 5e-128; MEOW:ATgn0018212 (38%) |species == Weed; gene == At2g14120; score == 449; expect == 2e-126; MEOW:ATgn0010220 (39%) |species == rice; score == 449; expect == 5e-126; MEOW:gnl|TIGR|8350.m06516 (47%) |species == Yeast; gene == VPS1; score == 443; expect == 8e-125; MEOW:SGgn0001709 (46%) |species == rice; score == 396; expect == 4e-110; MEOW:gnl|TIGR|8352.m02882 (48%) } # EOR GENR { RETE|ID 1 HUgn0001786 CHR 1 19 DID 1 LocusLink:1786 MAP 1 19p13.2 NAM 1 DNA (cytosine-5-)-methyltransferase 1 ORG 1 Homo sapiens SYM 1 DNMT1 ID|HUgn0001786 DID|LocusLink:1786 ORG|Homo sapiens RSQ|REFSEQ:NM_001379 RPA|REFPROT:NP_001370 DBA|XM:NM_001379 |NA:AF180682 |NA:X63692 |NA:none PAC|XP:NP_001370 SYM|DNMT1 NAM|DNA (cytosine-5-)-methyltransferase 1 SYN|DNMT |MCMT FNC|DNA (cytosine-5-)-methyltransferase 1 |DNA methylation ; GO:0006306 |regulation of transcription, DNA-dependent ; GO:0006355 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation |of tissue-specific patterns of methylated cytosine residues. Aberrant methylation |patterns are associated with certain human tumors and developmental abnormalities. CHR|19 PRD|DNA methyltransferase |DNA methyltransferase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=202672 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1786[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127606 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001379 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001379 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 DBL|UNIGENE:Hs.202672 |OMIM:126375 |SNP:1786 ENZ|EC:2.1.1.37 |methyltransferase activity ; GO:0008168 |DNA (cytosine-5-)-methyltransferase activity ; GO:0003886 |zinc ion binding ; GO:0008270 |DNA binding ; GO:0003677 |transferase activity ; GO:0016740 MAP|19p13.2 CEL|nucleus ; GO:0005634 HG|species == rat; score == 2400; expect == 0.0; MEOW:ref|NP_445806.1| (77%) |species == Mouse; gene == Dnmt1; score == 2345; expect == 0.0; MEOW:MGgn0003479 (76%) |species == Zfish; gene == dnmt1; score == 1144; expect == 0.0; MEOW:ZFgn0000279 (81%) |species == rice; score == 533; expect == 5e-151; MEOW:gnl|TIGR|8355.m04792 (31%) |species == rice; score == 527; expect == 4e-149; MEOW:gnl|TIGR|8360.m05251 (31%) |species == Weed; gene == At5g49160; score == 513; expect == 3e-145; MEOW:ATgn0022744 (36%) |species == Weed; gene == At4g14140; score == 489; expect == 5e-138; MEOW:ATgn0018794 (30%) |species == Weed; gene == At4g08990; score == 478; expect == 2e-134; MEOW:ATgn0019716 (30%) |species == Weed; gene == At4g13610; score == 460; expect == 3e-129; MEOW:ATgn0017843 (29%) } # EOR GENR { RETE|ID 1 HUgn0001787 CHR 1 10 DID 1 LocusLink:1787 MAP 1 10p15.1 NAM 1 DNA (cytosine-5-)-methyltransferase 2 ORG 1 Homo sapiens SYM 1 DNMT2 ID|HUgn0001787 DID|LocusLink:1787 ORG|Homo sapiens RSQ|REFSEQ:NM_004412 |REFSEQ:NM_176081 |REFSEQ:NM_176083 |REFSEQ:NM_176084 |REFSEQ:NM_176085 |REFSEQ:NM_176086 RPA|REFPROT:NP_004403 |REFPROT:NP_788270 |REFPROT:NP_788271 |REFPROT:NP_788272 |REFPROT:NP_788273 |REFPROT:NP_788274 DBA|XM:NM_004412 |XM:NM_176081 |XM:NM_176083 |XM:NM_176084 |XM:NM_176085 |XM:NM_176086 |NA:AF012128 |NA:AF045888 |NA:AF329940 |NA:AF329941 |NA:AF329942 |NA:AF329943 |NA:AF329944 |NA:AJ223333 |NA:BC047733 |NA:BX537961 |NA:none PAC|XP:NP_004403 |XP:NP_788270 |XP:NP_788271 |XP:NP_788272 |XP:NP_788273 |XP:NP_788274 SYM|DNMT2 NAM|DNA (cytosine-5-)-methyltransferase 2 SYN|PuMet |M.HsaIIP FNC|DNA methyltransferase 2 isoform a |DNA methyltransferase 2 isoform b |DNA methyltransferase 2 isoform c |DNA methyltransferase 2 isoform d |DNA methyltransferase 2 isoform e |DNA methyltransferase 2 isoform f |DNA methylation ; GO:0006306 REAB|CpG methylation is an epigenetic modification that is important for embryonic development, |imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that |DNA methylation is required for mammalian development. This gene encodes a protein |with similarity to DNA methyltransferases, but this protein does not display methyltransferase |activity. The protein strongly binds DNA, suggesting that it may mark specific sequences |in the genome. Alternative splicing results in multiple transcript variants encoding |different isoforms. CHR|10 PRD|DNA methyltransferase-2 |DNA MTase homolog HsaIIP |DNA methyltransferase homolog HsaIIP URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=351665 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1787[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836671 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004412 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004412 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=351665 DBL|UNIGENE:Hs.351665 |OMIM:602478 |SNP:1787 MAP|10p15.1 ENZ|DNA (cytosine-5-)-methyltransferase activity ; GO:0003886 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 620; expect == 3e-178; MEOW:ref|XP_214514.2| (80%) |species == Mouse; gene == Dnmt2; score == 615; expect == 8e-177; MEOW:MGgn0003480 (80%) |species == Fruitfly; gene == Mt2; score == 234; expect == 4.7e-62; MEOW:FBgn0028707 (34%) |species == Weed; gene == At5g25480; score == 233; expect == 1.3e-61; MEOW:ATgn0024219 (36%) |species == rice; score == 197; expect == 1.0e-50; MEOW:gnl|TIGR|8350.m03925 (33%) |species == Mosquito; gene == LOC20403; score == 163; expect == 1.4e-40; MEOW:AGgn0020403 (49%) |species == Mosquito; gene == LOC24696; score == 163; expect == 6.1e-41; MEOW:AGgn0024696 (49%) } # EOR GENR { RETE|ID 1 HUgn0001788 CHR 1 2 DID 1 LocusLink:1788 MAP 1 2p23 NAM 1 DNA (cytosine-5-)-methyltransferase 3 alpha ORG 1 Homo sapiens SYM 1 DNMT3A ID|HUgn0001788 DID|LocusLink:1788 ORG|Homo sapiens RSQ|REFSEQ:NM_022552 |REFSEQ:NM_153759 |REFSEQ:NM_175629 |REFSEQ:NM_175630 RPA|REFPROT:NP_072046 |REFPROT:NP_715640 |REFPROT:NP_783328 |REFPROT:NP_783329 DBA|XM:NM_022552 |XM:NM_153759 |XM:NM_175629 |XM:NM_175630 |NA:AB076659 |NA:AF503864 |NA:AF067972 |NA:AF331856 |NA:AF480163 |NA:AK025230 |NA:BC018214 |NA:BC023612 |NA:BC032392 |NA:BC043617 |NA:BC051864 PAC|XP:NP_072046 |XP:NP_715640 |XP:NP_783328 |XP:NP_783329 SYM|DNMT3A NAM|DNA (cytosine-5-)-methyltransferase 3 alpha SYN|DNMT3A2 |M.HsaIIIA FNC|DNA cytosine methyltransferase 3 alpha isoform a |DNA cytosine methyltransferase 3 alpha isoform b |DNA cytosine methyltransferase 3 alpha isoform c |DNA methylation ; GO:0006306 REAB|CpG methylation is an epigenetic modification that is important for embryonic development, |imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that |DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase |that is thought to function in de novo methylation, rather than maintenance methylation. |The protein localizes to the cytoplasm and nucleus and its expression is developmentally |regulated. Alternative splicing results in multiple transcript variants encoding |different isoforms. CHR|2 PRD|DNA MTase HsaIIIA |DNA methyltransferase HsaIIIA |DNA cytosine methyltransferase 3A2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=241565 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1788[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862954 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_175629 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_175629 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=241565 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 DBL|UNIGENE:Hs.241565 |OMIM:602769 |SNP:1788 ENZ|EC:2.1.1.37 |DNA (cytosine-5-)-methyltransferase activity ; GO:0003886 |DNA binding ; GO:0003677 MAP|2p23 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dnmt3a; score == 1567; expect == 0.0; MEOW:MGgn0003481 (96%) |species == rat; score == 1334; expect == 0.0; MEOW:ref|XP_233941.2| (92%) |species == rat; score == 1149; expect == 0.0; MEOW:ref|XP_223446.2| (80%) |species == Human; gene == DNMT3B; score == 802; expect == 0.0; MEOW:HUgn0001789 (59%) |species == Zfish; gene == dnmt3; score == 670; expect == 0.0; MEOW:ZFgn0000573 (48%) } # EOR GENR { RETE|ID 1 HUgn0001789 CHR 1 20 DID 1 LocusLink:1789 MAP 1 20q11.2 NAM 1 DNA (cytosine-5-)-methyltransferase 3 beta ORG 1 Homo sapiens SYM 1 DNMT3B ID|HUgn0001789 DID|LocusLink:1789 ORG|Homo sapiens RSQ|REFSEQ:NM_006892 |REFSEQ:NM_175848 |REFSEQ:NM_175849 |REFSEQ:NM_175850 RPA|REFPROT:NP_008823 |REFPROT:NP_787044 |REFPROT:NP_787045 |REFPROT:NP_787046 DBA|XM:NM_006892 |XM:NM_175848 |XM:NM_175849 |XM:NM_175850 |NA:AL035071 |NA:AF129267 |NA:AF129268 |NA:AF129269 |NA:AF156487 |NA:AF156488 |NA:AF176228 |NA:AF331857 |NA:AK001191 |NA:none PAC|XP:NP_008823 |XP:NP_787044 |XP:NP_787045 |XP:NP_787046 SYM|DNMT3B NAM|DNA (cytosine-5-)-methyltransferase 3 beta SYN|ICF |M.HsaIIIB FNC|DNA cytosine-5 methyltransferase 3 beta isoform 1 |DNA cytosine-5 methyltransferase 3 beta isoform 2 |DNA cytosine-5 methyltransferase 3 beta isoform 3 |DNA cytosine-5 methyltransferase 3 beta isoform 6 |DNA methylation ; GO:0006306 REAB|CpG methylation is an epigenetic modification that is important for embryonic development, |imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that |DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase |which is thought to function in de novo methylation, rather than maintenance methylation. |The protein localizes primarily to the nucleus and its expression is developmentally |regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial |anomalies (ICF) syndrome. Six alternatively spliced transcript variants have been |described. The full length sequences of variants 4 and 5 have not been determined. CHR|20 PRD|DNA MTase HsaIIIB |DNA methyltransferase HsaIIIB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=251673 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1789[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862955 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006892 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006892 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 DBL|UNIGENE:Hs.251673 |OMIM:602900 |SNP:1789 |UWCM:9862955.html ENZ|EC:2.1.1.37 |DNA (cytosine-5-)-methyltransferase activity ; GO:0003886 |DNA binding ; GO:0003677 |site-specific DNA-methyltransferase (cytosine-specific) activity ; GO:0008326 |transferase activity ; GO:0016740 MAP|20q11.2 PHP|Immunodeficiency-centromeric instability-facial anomalies syndrome CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Dnmt3b; score == 1094; expect == 0.0; MEOW:MGgn0003482 (78%) |species == Human; gene == DNMT3A; score == 802; expect == 0.0; MEOW:HUgn0001788 (59%) |species == rat; score == 767; expect == 0.0; MEOW:ref|XP_233941.2| (56%) |species == rat; score == 715; expect == 0.0; MEOW:ref|XP_223446.2| (53%) |species == Zfish; gene == dnmt3; score == 693; expect == 0.0; MEOW:ZFgn0000573 (52%) } # EOR GENR { RETE|ID 1 HUgn0001791 CHR 1 10 DID 1 LocusLink:1791 MAP 1 10q23-q24 NAM 1 deoxynucleotidyltransferase, terminal ORG 1 Homo sapiens SYM 1 DNTT ID|HUgn0001791 DID|LocusLink:1791 ORG|Homo sapiens RSQ|REFSEQ:NM_004088 RPA|REFPROT:NP_004079 DBA|XM:NM_004088 |NA:AB046378 |NA:AK130771 |NA:BC012920 |NA:M20703 |NA:M22968 |NA:M26144 |NA:none PAC|XP:NP_004079 SYM|DNTT NAM|deoxynucleotidyltransferase, terminal SYN|TDT FNC|deoxynucleotidyltransferase, terminal |DNA modification ; GO:0006304 |DNA replication ; GO:0006260 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|Terminal deoxynucleotidyltransferase (DNA nucleotidylexotransferase; nucleosidetriphosphate:DNA |deoxynucleotidylexotransferase; EC 2.7.7.31) is a unique DNA polymerase that without |template direction catalyzes the addition of deoxyribonucleotides onto the 3-prime-hydroxyl |end of DNA primers (Landau et al., 1984 [PubMed 6091113]). It is synthesized as |a single chain with molecular weight 55,000-60,000 in humans. TDT may be responsible |for inserting nucleotides (N regions) at the V(H)-D and D-J(H) junctions of immunoglobulin |genes. The enzyme is present in immature thymocytes, some bone marrow cells, transformed |pre-B and pre-T cell lines, and leukemia cells.[supplied by OMIM] CHR|10 PRD|Terminal deoxynucleotidyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=397294 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1791[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119100 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004088 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004088 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=397294 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27449 DBL|UNIGENE:Hs.397294 |OMIM:187410 |SNP:1791 ENZ|EC:2.7.7.31 |DNA nucleotidylexotransferase activity ; GO:0003912 |DNA-directed DNA polymerase activity ; GO:0003887 |DNA binding ; GO:0003677 |magnesium ion binding ; GO:0000287 |transferase activity ; GO:0016740 MAP|10q23-q24 CEL|nucleus ; GO:0005634 HG|species == rat; score == 790; expect == 0.0; MEOW:ref|XP_220018.2| (76%) |species == Mouse; gene == Dntt; score == 772; expect == 0.0; MEOW:MGgn0012144 (76%) |species == Human; gene == POLM; score == 364; expect == 7e-101; MEOW:HUgn0027434 (40%) } # EOR GENR { RETE|ID 1 HUgn0001793 CHR 1 10 DID 1 LocusLink:1793 MAP 1 10q26.13-q26.3 NAM 1 dedicator of cyto-kinesis 1 ORG 1 Homo sapiens SYM 1 DOCK1 ID|HUgn0001793 DID|LocusLink:1793 ORG|Homo sapiens RSQ|REFSEQ:NM_001380 RPA|REFPROT:NP_001371 DBA|XM:NM_001380 |NA:D50857 PAC|XP:NP_001371 SYM|DOCK1 NAM|dedicator of cyto-kinesis 1 SYN|DOCK180 FNC|dedicator of cyto-kinesis 1 |small GTPase mediated signal transduction ; GO:0007264 |integrin-mediated signaling pathway ; GO:0007229 |phagocytosis, engulfment ; GO:0006911 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 REAB|Dedicator of cyto-kinesis 1 binds to the SH3 domain of CRK protein. It may regulate |cell surface extension and may have a role in the cell surface extension of an engulfing |cell around a dying cell during apoptosis. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437620 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1793[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836007 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001380 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 DBL|UNIGENE:Hs.437620 |OMIM:601403 |SNP:1793 MAP|10q26.13-q26.3 ENZ|GTPase activator activity ; GO:0005096 CEL|membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == rat; score == 2270; expect == 0.0; MEOW:ref|XP_224311.2| (64%) |species == Human; gene == DOCK2; score == 2132; expect == 0.0; MEOW:HUgn0001794 (63%) |species == Mouse; gene == Dock2; score == 2114; expect == 0.0; MEOW:MGgn0038868 (63%) |species == Mosquito; score == 1325; expect == 0.0; MEOW:AGgn0003452 (43%) |species == Fruitfly; gene == mbc; score == 1271; expect == 0.0; MEOW:FBgn0015513 (39%) |species == Fruitfly; gene == CG31048; score == 1054; expect == 0.0; MEOW:FBgn0051048 (37%) } # EOR GENR { RETE|ID 1 HUgn0001794 CHR 1 5 DID 1 LocusLink:1794 MAP 1 5q35.1 NAM 1 dedicator of cyto-kinesis 2 ORG 1 Homo sapiens SYM 1 DOCK2 ID|HUgn0001794 DID|LocusLink:1794 ORG|Homo sapiens RSQ|REFSEQ:NM_004946 RPA|REFPROT:NP_004937 DBA|XM:NM_004946 |NA:AK128107 |NA:BC016996 |NA:BC035613 |NA:D86964 PAC|XP:NP_004937 SYM|DOCK2 NAM|dedicator of cyto-kinesis 2 SYN|KIAA0209 FNC|dedicator of cyto-kinesis 2 REAB|The DOCK2 gene encodes a hematopoietic cell-specific CDM family protein that is indispensable for lymphocyte chemotaxis.[supplied by OMIM] CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=17211 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1794[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9785199 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004946 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004946 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=17211 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0209 DBL|UNIGENE:Hs.17211 |OMIM:603122 |SNP:1794 MAP|5q35.1 CEL|membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Dock2; score == 3426; expect == 0.0; MEOW:MGgn0038868 (95%) |species == Human; gene == DOCK1; score == 2132; expect == 0.0; MEOW:HUgn0001793 (63%) |species == rat; score == 1909; expect == 0.0; MEOW:ref|XP_224311.2| (55%) |species == Mosquito; score == 1275; expect == 0.0; MEOW:AGgn0003452 (42%) |species == Fruitfly; gene == mbc; score == 1243; expect == 0.0; MEOW:FBgn0015513 (40%) |species == Fruitfly; gene == CG31048; score == 1046; expect == 0.0; MEOW:FBgn0051048 (37%) } # EOR GENR { RETE|ID 1 HUgn0001795 CHR 1 3 DID 1 LocusLink:1795 MAP 1 3p21.31 NAM 1 dedicator of cyto-kinesis 3 ORG 1 Homo sapiens SYM 1 DOCK3 ID|HUgn0001795 DID|LocusLink:1795 ORG|Homo sapiens RSQ|REFSEQ:NM_004947 RPA|REFPROT:NP_004938 DBA|XM:NM_004947 |NA:AB002297 |NA:AY145303 |NA:AY254099 PAC|XP:NP_004938 SYM|DOCK3 NAM|dedicator of cyto-kinesis 3 SYN|MOCA |KIAA0299 FNC|dedicator of cyto-kinesis 3 CHR|3 PRD|modifier of cell adhesion |presenilin-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7022 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1795[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9785509 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004947 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004947 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0299 DBL|UNIGENE:Hs.7022 |OMIM:603123 |SNP:1795 MAP|3p21.31 PHP|Low similarity to C. elegans ced-5, which is required for cell corpse engulfment and distal tip cell migration HG|species == Mouse; gene == Dock3; score == 3737; expect == 0.0; MEOW:MGgn0043657 (97%) |species == rat; score == 2445; expect == 0.0; MEOW:ref|XP_236616.2| (84%) |species == Human; gene == DOCK4; score == 2091; expect == 0.0; MEOW:HUgn0009732 (57%) |species == Fruitfly; gene == CG31048; score == 1259; expect == 0.0; MEOW:FBgn0051048 (42%) |species == Mosquito; score == 933; expect == 0.0; MEOW:AGgn0003452 (33%) |species == Yeast; gene == YLR422W; score == 151; expect == 1.2e-36; MEOW:SGgn0004414 (23%) } # EOR GENR { RETE|ID 1 HUgn0001796 CHR 1 2 DID 1 LocusLink:1796 MAP 1 2p13 NAM 1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) ORG 1 Homo sapiens SYM 1 DOK1 ID|HUgn0001796 DID|LocusLink:1796 ORG|Homo sapiens RSQ|REFSEQ:NM_001381 RPA|REFPROT:NP_001372 DBA|XM:NM_001381 |NA:AF035299 |NA:AF180527 |NA:AK055944 |NA:AK127127 |NA:AK127656 |NA:U70987 |NA:none PAC|XP:NP_001372 SYM|DOK1 NAM|docking protein 1, 62kDa (downstream of tyrosine kinase 1) SYN|P62DOK FNC|docking protein 1 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |cell surface receptor linked signal transduction ; GO:0007166 REAB|Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors |isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. | It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence |is associated with CML. Docking protein 1 contains a putative pleckstrin homology |domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein |2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in |mitogenic signaling. CHR|2 PRD|p62dok |Downstream of tyrosine kinase 1 |docking protein 1 (downstream of tyrosine kinase 1) |docking protein 1, 62kD (downstream of tyrosine kinase 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=103854 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1796[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6383061 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001381 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001381 DBL|UNIGENE:Hs.103854 |OMIM:602919 |SNP:1796 MAP|2p13 ENZ|insulin receptor binding ; GO:0005158 |protein binding ; GO:0005515 HG|species == Mouse; gene == Dok1; score == 771; expect == 0.0; MEOW:MGgn0003494 (83%) |species == Human; gene == LOC220077; score == 686; expect == 0.0; MEOW:HUgn0220077 (79%) |species == rat; score == 482; expect == 2e-136; MEOW:ref|XP_232106.2| (86%) } # EOR GENR { RETE|ID 1 HUgn0001797 CHR 1 6 DID 1 LocusLink:1797 MAP 1 6p21.3 NAM 1 dom-3 homolog Z (C. elegans) ORG 1 Homo sapiens SYM 1 DOM3Z ID|HUgn0001797 DID|LocusLink:1797 ORG|Homo sapiens RSQ|REFSEQ:NM_005510 |REFSEQ:NM_032419 RPA|REFPROT:NP_005501 |REFPROT:NP_115795 DBA|XM:NM_005510 |XM:NM_032419 |NA:AF019413 |NA:AL049547 |NA:AF059252 |NA:AF059253 |NA:AF059254 |NA:BC009344 |NA:BC019083 |NA:BC030235 |NA:BC050618 |NA:BC058885 PAC|XP:NP_005501 |XP:NP_115795 SYM|DOM3Z NAM|dom-3 homolog Z (C. elegans) SYN|NG6 |DOM3L FNC|DOM-3 homolog Z isoform 1 |DOM-3 homolog Z isoform 2 REAB|This gene localizes to the major histocompatibility complex (MHC) class III region |on chromosome 6. The function of its protein product is unknown, but its ubiquitous |expression and conservation in both simple and complex eukaryotes suggests that |this may be a housekeeping gene. The gene expresses two transcript variants. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153299 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1797[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862957 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005510 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005510 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=153299 DBL|UNIGENE:Hs.153299 |OMIM:605996 |SNP:1797 MAP|6p21.3 HG|species == Mouse; gene == Dom3z; score == 733; expect == 0.0; MEOW:MGgn0038870 (90%) |species == rat; score == 732; expect == 0.0; MEOW:ref|XP_342094.1| (90%) |species == Mosquito; score == 159; expect == 1.7e-39; MEOW:AGgn0025508 (29%) } # EOR GENR { RETE|ID 1 HUgn0001798 CHR 1 11 DID 1 LocusLink:1798 MAP 1 11q23.3 NAM 1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ORG 1 Homo sapiens SYM 1 DPAGT1 ID|HUgn0001798 DID|LocusLink:1798 ORG|Homo sapiens RSQ|REFSEQ:NM_001382 RPA|REFPROT:NP_001373 DBA|XM:NM_001382 |NA:G29019 |NA:AK095122 |NA:AK095718 |NA:AK128572 |NA:BC000325 |NA:BC047771 |NA:BT006802 |NA:Z82022 |NA:none PAC|XP:NP_001373 SYM|DPAGT1 NAM|dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) SYN|GPT |ALG7 |DGPT |UAGT |UGAT |DPAGT |CDG-Ij |DPAGT2 |D11S366 FNC|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase |lipid metabolism ; GO:0006629 REAB|The protein encoded by this gene is an enzyme that catalyzes the first committed |step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. |This enzyme is an integral membrane protein of the endoplasmic reticulum. CHR|11 PRD|GlcNAc-1-P transferase |N-acetylglucosamine-1-phosphate transferase |dolichyl-phosphate N-acetylglucosaminephosphotransferase |dolichyl-phosphate alpha-N-acetylglucosaminyltransferase |UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26433 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1798[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:251678 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001382 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001382 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26433 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 DBL|UNIGENE:Hs.26433 |OMIM:191350 |SNP:1798 ENZ|EC:2.7.8.15 |UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity ; GO:0003975 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|11q23.3 PHP|Congenital disorder of glycosylation, type Ij CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dpagt1; score == 667; expect == 0.0; MEOW:MGgn0003525 (94%) |species == rat; score == 634; expect == 0.0; MEOW:ref|XP_236188.2| (94%) |species == Mosquito; gene == LOC10497; score == 436; expect == 1e-122; MEOW:AGgn0010497 (55%) |species == Fruitfly; gene == CG5287; score == 413; expect == 8e-116; MEOW:FBgn0032477 (55%) |species == Worm; gene == Y60A3A.14; score == 332; expect == 2.0e-91; MEOW:CEgn0019606 (50%) |species == Yeast; gene == ALG7; score == 297; expect == 9.2e-81; MEOW:SGgn0000447 (42%) |species == Weed; gene == GPT; score == 262; expect == 3.1e-70; MEOW:ATgn0007503 (42%) |species == Weed; gene == GPT; score == 255; expect == 4.5e-68; MEOW:ATgn0016524 (50%) |species == rice; score == 240; expect == 1.9e-63; MEOW:gnl|TIGR|8355.m04451 (45%) } # EOR GENR { RETE|ID 1 HUgn0001800 CHR 1 16 DID 1 LocusLink:1800 MAP 1 16q24.3 NAM 1 dipeptidase 1 (renal) ORG 1 Homo sapiens SYM 1 DPEP1 ID|HUgn0001800 DID|LocusLink:1800 ORG|Homo sapiens RSQ|REFSEQ:NM_004413 RPA|REFPROT:NP_004404 DBA|XM:NM_004413 |NA:D13137 |NA:S70330 |NA:BC017023 |NA:BT006664 |NA:D13138 |NA:J05257 |NA:none PAC|XP:NP_004404 SYM|DPEP1 NAM|dipeptidase 1 (renal) SYN|MDP |RDP FNC|dipeptidase 1 (renal) CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1800[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128059 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004413 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004413 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=109 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA144 DBL|UNIGENE:Hs.109 |OMIM:179780 |SNP:1800 ENZ|EC:3.4.13.19 MAP|16q24.3 HG|species == rat; score == 607; expect == 4e-174; MEOW:ref|NP_446043.1| (74%) |species == Mouse; gene == Dpep1; score == 594; expect == 2e-170; MEOW:MGgn0003526 (72%) |species == Human; gene == DPEP2; score == 363; expect == 9e-101; MEOW:HUgn0064174 (50%) |species == Fruitfly; gene == CG6154; score == 355; expect == 2.0e-98; MEOW:FBgn0039420 (51%) |species == Mosquito; score == 354; expect == 2.4e-98; MEOW:AGgn0020971 (51%) |species == Human; gene == DPEP3; score == 342; expect == 2.2e-94; MEOW:HUgn0064180 (47%) |species == Fruitfly; gene == CG5917; score == 306; expect == 1.0e-83; MEOW:FBgn0036215 (44%) } # EOR GENR { RETE|ID 1 HUgn0001801 CHR 1 17 DID 1 LocusLink:1801 MAP 1 17p13.3 NAM 1 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) ORG 1 Homo sapiens SYM 1 DPH2L1 ID|HUgn0001801 DID|LocusLink:1801 ORG|Homo sapiens RSQ|REFSEQ:NM_001383 RPA|REFPROT:NP_001374 DBA|XM:NM_001383 |NA:AF321876 |NA:BC003099 |NA:BC013205 |NA:S81752 |NA:U34880 PAC|XP:NP_001374 SYM|DPH2L1 NAM|diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) SYN|DPH2L |OVCA1 FNC|diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 CHR|17 PRD|ovarian cancer-associated gene 1 |candidate tumor suppressor in ovarian cancer 1 |diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1 DBL|OMIM:603527 |SNP:1801 MAP|17p13.3 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1801[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:631901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001383 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001383 HG|species == Mouse; gene == Dph2l1; score == 634; expect == 0.0; MEOW:MGgn0039671 (85%) |species == rat; score == 566; expect == 8e-162; MEOW:ref|XP_213396.2| (89%) |species == Fruitfly; gene == CG11652; score == 403; expect == 1e-112; MEOW:FBgn0036194 (57%) |species == Worm; gene == C14B1.5; score == 377; expect == 8e-105; MEOW:CEgn0004734 (54%) |species == Yeast; gene == YIL103W; score == 331; expect == 9.5e-92; MEOW:SGgn0001365 (52%) |species == Weed; gene == At5g62030; score == 307; expect == 1.2e-83; MEOW:ATgn0022267 (52%) |species == rice; score == 298; expect == 6.9e-81; MEOW:gnl|TIGR|8351.m05483 (50%) |species == Mosquito; score == 135; expect == 1.2e-32; MEOW:AGgn0026830 (65%) |species == Mosquito; score == 134; expect == 3.7e-32; MEOW:AGgn0025475 (70%) } # EOR GENR { RETE|ID 1 HUgn0001802 CHR 1 1 DID 1 LocusLink:1802 MAP 1 1p34 NAM 1 diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae) ORG 1 Homo sapiens SYM 1 DPH2L2 ID|HUgn0001802 DID|LocusLink:1802 ORG|Homo sapiens RSQ|REFSEQ:NM_001384 RPA|REFPROT:NP_001375 DBA|XM:NM_001384 |NA:AF053003 |NA:AK091303 |NA:BC001389 |NA:BC003181 |NA:BC016956 |NA:BT007431 PAC|XP:NP_001375 SYM|DPH2L2 NAM|diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae) SYN|DPH2 FNC|diphthamide biosynthesis-like protein 2 REAB|DPH2L2 encodes diphthamide biosynthesis-like protein 2, one of two human genes similar |to the yeast gene dph2. The yeast gene was identified by its ability to complement |a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. |Diphthamide is a post-translationally modified histidine residue present in elongation |factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324830 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1802[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835738 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001384 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001384 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324830 DBL|UNIGENE:Hs.324830 |OMIM:603456 |SNP:1802 MAP|1p34 HG|species == Mouse; gene == Dph2l2; score == 779; expect == 0.0; MEOW:MGgn0026965 (83%) |species == rat; score == 734; expect == 0.0; MEOW:ref|XP_233439.2| (85%) } # EOR GENR { RETE|ID 1 HUgn0001803 CHR 1 2 DID 1 LocusLink:1803 MAP 1 2q24.3 NAM 1 dipeptidylpeptidase 4 (CD26, adenosine deaminase complexing protein 2) ORG 1 Homo sapiens SYM 1 DPP4 ID|HUgn0001803 DID|LocusLink:1803 ORG|Homo sapiens RSQ|REFSEQ:NM_001935 RPA|REFPROT:NP_001926 DBA|XM:NM_001935 |NA:S79876 |NA:U13710 |NA:U13711 |NA:U13712 |NA:U13713 |NA:U13714 |NA:U13715 |NA:U13716 |NA:U13717 |NA:U13718 |NA:U13719 |NA:U13720 |NA:U13721 |NA:U13722 |NA:U13723 |NA:U13724 |NA:U13725 |NA:U13726 |NA:U13727 |NA:U13728 |NA:U13729 |NA:U13730 |NA:U13731 |NA:U13732 |NA:U13733 |NA:U13734 |NA:U13735 |NA:BC013329 |NA:M74777 |NA:M80536 |NA:X60708 |NA:none PAC|XP:NP_001926 SYM|DPP4 NAM|dipeptidylpeptidase 4 (CD26, adenosine deaminase complexing protein 2) SYN|CD26 |ADABP |ADCP2 |DPPIV |TP103 FNC|dipeptidylpeptidase IV |proteolysis and peptidolysis ; GO:0006508 |immune response ; GO:0006955 REAB|The protein encoded by this gene is dentical to adenosine deaminase complexing protein-2, |and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein |and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus |of polypeptides. Use of multiple polyadenylation sites has been noted for this gene. CHR|2 PRD|T-cell activation antigen CD26 |adenosine deaminase complexing protein 2 |dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=44926 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1803[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125239 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001935 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001935 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=44926 DBL|UNIGENE:Hs.44926 |OMIM:102720 |SNP:1803 |PROW:61856995 ENZ|EC:3.4.14.5 |prolyl oligopeptidase activity ; GO:0004287 |dipeptidyl-peptidase IV activity ; GO:0004274 |aminopeptidase activity ; GO:0004177 |hydrolase activity ; GO:0016787 MAP|2q24.3 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1331; expect == 0.0; MEOW:ref|NP_036921.1| (84%) |species == Mouse; gene == Dpp4; score == 1324; expect == 0.0; MEOW:MGgn0003529 (84%) |species == Human; gene == FAP; score == 833; expect == 0.0; MEOW:HUgn0002191 (53%) |species == Mosquito; score == 413; expect == 9e-116; MEOW:AGgn0015082 (33%) |species == Fruitfly; gene == CG11034; score == 413; expect == 1e-115; MEOW:FBgn0031741 (33%) |species == Fruitfly; gene == ome; score == 389; expect == 2e-108; MEOW:FBgn0002997 (32%) |species == Mosquito; gene == LOC21835; score == 342; expect == 2.0e-94; MEOW:AGgn0021835 (32%) |species == Yeast; gene == DAP2; score == 331; expect == 2.3e-91; MEOW:SGgn0001070 (31%) |species == Worm; gene == C27C12.7; score == 260; expect == 2.1e-69; MEOW:CEgn0005496 (30%) |species == Worm; gene == T23F1.7a; score == 254; expect == 1.2e-67; MEOW:CEgn0016762 (29%) |species == Worm; gene == T23F1.7b; score == 254; expect == 1.2e-67; MEOW:CEgn0016763 (29%) |species == Weed; gene == At5g24260; score == 206; expect == 3.1e-53; MEOW:ATgn0023267 (26%) |species == rice; score == 181; expect == 1.4e-45; MEOW:gnl|TIGR|8351.m01730 (24%) } # EOR GENR { RETE|ID 1 HUgn0001804 CHR 1 7 DID 1 LocusLink:1804 MAP 1 7q36.2-q36.3 NAM 1 dipeptidylpeptidase 6 ORG 1 Homo sapiens SYM 1 DPP6 ID|HUgn0001804 DID|LocusLink:1804 ORG|Homo sapiens RSQ|REFSEQ:NM_001936 |REFSEQ:NM_130797 RPA|REFPROT:NP_001927 |REFPROT:NP_570629 DBA|XM:NM_130797 |XM:NM_001936 |XM:NM_130797 |NA:BX647966 |NA:M96859 |NA:M96860 |NA:none PAC|XP:NP_570629 |XP:NP_001927 |XP:NP_570629 SYM|DPP6 NAM|dipeptidylpeptidase 6 SYN|DPPX FNC|dipeptidylpeptidase VI isoform 1 |dipeptidylpeptidase VI isoform 2 |proteolysis and peptidolysis ; GO:0006508 REAB|The protein encoded by this gene is the human ortholog of bovine and rat dipeptidylpeptidase |VI. They are transmembrane proteins and likely members of the dipeptidyl aminopeptidase |family. Two transcript variants encoding different isoforms have been identified |in all 3 species. In bovine and rat, the longer form has been shown to be expressed |almost exclusively in brain, whereas the shorter form has a more widespread expression. CHR|7 PRD|dipeptidylpeptidase VI |dipeptidyl aminopeptidase IV-related protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390175 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1804[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136980 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130797 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130797 DBL|UNIGENE:Hs.390175 |OMIM:126141 |SNP:1804 MAP|7q36.2-q36.3 ENZ|dipeptidyl-peptidase activity ; GO:0008239 |dipeptidyl-peptidase IV activity ; GO:0004274 |catalytic activity ; GO:0003824 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1471; expect == 0.0; MEOW:ref|NP_074041.1| (93%) |species == Mouse; gene == Dpp6; score == 1462; expect == 0.0; MEOW:MGgn0003530 (92%) |species == Human; gene == DPP10; score == 840; expect == 0.0; MEOW:HUgn0057628 (52%) |species == Mosquito; score == 375; expect == 2e-104; MEOW:AGgn0015082 (30%) |species == Fruitfly; gene == ome; score == 320; expect == 9.0e-88; MEOW:FBgn0002997 (27%) |species == Fruitfly; gene == CG11034; score == 295; expect == 3.1e-80; MEOW:FBgn0031741 (28%) |species == Yeast; gene == DAP2; score == 280; expect == 1.8e-75; MEOW:SGgn0001070 (28%) |species == Fruitfly; gene == CG9059; score == 256; expect == 2.1e-68; MEOW:FBgn0030810 (27%) |species == Worm; gene == T23F1.7a; score == 253; expect == 2.1e-67; MEOW:CEgn0016762 (27%) |species == Worm; gene == T23F1.7b; score == 253; expect == 2.1e-67; MEOW:CEgn0016763 (27%) |species == Yeast; gene == STE13; score == 236; expect == 3.4e-62; MEOW:SGgn0005745 (24%) |species == Worm; gene == C27C12.7; score == 215; expect == 6.2e-56; MEOW:CEgn0005496 (25%) |species == Weed; gene == At5g24260; score == 177; expect == 1.6e-44; MEOW:ATgn0023267 (24%) } # EOR GENR { RETE|ID 1 HUgn0001805 CHR 1 1 DID 1 LocusLink:1805 MAP 1 1q12-q23 NAM 1 dermatopontin ORG 1 Homo sapiens SYM 1 DPT ID|HUgn0001805 DID|LocusLink:1805 ORG|Homo sapiens RSQ|REFSEQ:NM_001937 RPA|REFPROT:NP_001928 DBA|XM:NM_001937 |NA:AF086330 |NA:AL049455 |NA:BC033736 |NA:Z22865 |NA:none PAC|XP:NP_001928 SYM|DPT NAM|dermatopontin SYN|TRAMP FNC|dermatopontin precursor |cell adhesion ; GO:0007155 REAB|Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix |interactions and matrix assembly. The protein is found in various tissues and many |of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the |behavior of TGF-beta through interaction with decorin. CHR|1 PRD|tyrosine-rich acidic matrix protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80552 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1805[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:206707 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001937 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001937 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80552 DBL|UNIGENE:Hs.80552 |OMIM:125597 |SNP:1805 MAP|1q12-q23 ENZ|protein binding ; GO:0005515 |cell adhesion molecule activity ; GO:0005194 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 400; expect == 2e-112; MEOW:ref|XP_213925.1| (92%) |species == Mouse; gene == Dpt; score == 382; expect == 3e-107; MEOW:MGgn0015037 (91%) } # EOR GENR { RETE|ID 1 HUgn0001806 CHR 1 1 DID 1 LocusLink:1806 MAP 1 1p22 NAM 1 dihydropyrimidine dehydrogenase ORG 1 Homo sapiens SYM 1 DPYD ID|HUgn0001806 DID|LocusLink:1806 ORG|Homo sapiens RSQ|REFSEQ:NM_000110 RPA|REFPROT:NP_000101 DBA|XM:NM_000110 |NA:U57655 |NA:X95670 |NA:AB003063 |NA:BC008379 |NA:U09178 |NA:U20938 PAC|XP:NP_000101 SYM|DPYD NAM|dihydropyrimidine dehydrogenase SYN|DHP |DPD FNC|dihydropyrimidine dehydrogenase REAB|Dihydropyrimidine dehydrogenase (DPYD) is a pyrimidine catabolic enzyme and the |initial and rate-limiting step in the pathway of uracil and thymidine catabolism |and also in the pathway leading to the formation of beta-alanine. The DPYD gene |is a large gene of approximately 150 kb consisting of 23 exons encoding a protein |of approximately 111-kDa. Genetic deficiency of DPYD enzyme results in an error |in pyrimidine metabolism associated with thymine-uraciluria and an increased risk |of toxicity in cancer patients receiving 5-flourouracil chemotherapy. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1602 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1806[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:364102 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000110 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000110 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00770 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA145 DBL|UNIGENE:Hs.1602 |OMIM:274270 |SNP:1806 ENZ|EC:1.3.1.2 MAP|1p22 PHP|Fluorouracil toxicity, sensitivity to |Thymine-uraciluria HG|species == Mouse; gene == Dpyd; score == 1850; expect == 0.0; MEOW:MGgn0030800 (89%) |species == Worm; gene == C25F6.3; score == 1338; expect == 0.0; MEOW:CEgn0005359 (65%) |species == Mosquito; gene == LOC16011; score == 1300; expect == 0.0; MEOW:AGgn0016011 (63%) |species == rat; score == 1015; expect == 0.0; MEOW:ref|XP_346633.1| (88%) |species == Fruitfly; gene == Reg-3; score == 736; expect == 0.0; MEOW:FBgn0016718 (61%) |species == rice; score == 239; expect == 1.3e-62; MEOW:gnl|TIGR|8351.m04806 (38%) |species == Weed; gene == At3g17810; score == 223; expect == 2.1e-58; MEOW:ATgn0015632 (36%) |species == ecoli; score == 191; expect == 2.8e-49; MEOW:ref|NP_416652.1| (35%) |species == ecoli; score == 178; expect == 5.6e-45; MEOW:ref|NP_416651.1| (31%) |species == ecoli; score == 163; expect == 1.7e-40; MEOW:ref|NP_417680.1| (28%) |species == ecoli; score == 161; expect == 1.6e-39; MEOW:ref|NP_416963.1| (28%) |species == ecoli; score == 154; expect == 1.1e-37; MEOW:ref|NP_417363.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0001807 CHR 1 8 DID 1 LocusLink:1807 MAP 1 8q22 NAM 1 dihydropyrimidinase ORG 1 Homo sapiens SYM 1 DPYS ID|HUgn0001807 DID|LocusLink:1807 ORG|Homo sapiens RSQ|REFSEQ:NM_001385 RPA|REFPROT:NP_001376 DBA|XM:NM_001385 |NA:AB004677 |NA:BC034395 |NA:D78011 |NA:none PAC|XP:NP_001376 SYM|DPYS NAM|dihydropyrimidinase SYN|DHP |DHPase FNC|dihydropyrimidinase |response to toxin ; GO:0009636 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 REAB|Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate |in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver |and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects |in the DPYS gene are linked to dihydropyrimidinuria. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443161 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1807[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885803 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001385 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001385 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443161 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00770 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA146 DBL|UNIGENE:Hs.443161 |OMIM:222748 |SNP:1807 ENZ|EC:3.5.2.2 |dihydropyrimidinase activity ; GO:0004157 |hydrolase activity ; GO:0016787 MAP|8q22 PHP|Dihydropyrimidinuria HG|species == rat; score == 966; expect == 0.0; MEOW:ref|NP_113893.1| (90%) |species == Mouse; gene == Dpys; score == 944; expect == 0.0; MEOW:MGgn0015038 (88%) |species == Human; gene == DPYSL2; score == 607; expect == 6e-174; MEOW:HUgn0001808 (59%) |species == Human; gene == DPYSL3; score == 603; expect == 7e-173; MEOW:HUgn0001809 (60%) |species == Human; gene == DPYSL5; score == 600; expect == 7e-172; MEOW:HUgn0056896 (58%) |species == Human; gene == CRMP1; score == 599; expect == 2e-171; MEOW:HUgn0001400 (58%) |species == Human; gene == DPYSL4; score == 591; expect == 4e-169; MEOW:HUgn0010570 (59%) |species == Worm; gene == dhp-2; score == 585; expect == 3e-167; MEOW:CEgn0006677 (58%) |species == Mosquito; score == 572; expect == 1e-163; MEOW:AGgn0027055 (64%) |species == Mosquito; score == 543; expect == 1e-154; MEOW:AGgn0003198 (58%) |species == Worm; gene == dhp-1; score == 543; expect == 6e-155; MEOW:CEgn0030453 (54%) |species == rice; score == 438; expect == 3e-123; MEOW:gnl|TIGR|8350.m05558 (48%) |species == ecoli; score == 271; expect == 7.6e-74; MEOW:ref|NP_417349.1| (35%) |species == Weed; gene == At5g12200; score == 179; expect == 1.2e-45; MEOW:ATgn0025330 (43%) |species == Fruitfly; gene == CRMP; score == 144; expect == 2.2e-35; MEOW:FBgn0023023 (53%) } # EOR GENR { RETE|ID 1 HUgn0001808 CHR 1 8 DID 1 LocusLink:1808 MAP 1 8p22-p21 NAM 1 dihydropyrimidinase-like 2 ORG 1 Homo sapiens SYM 1 DPYSL2 ID|HUgn0001808 DID|LocusLink:1808 ORG|Homo sapiens RSQ|REFSEQ:NM_001386 RPA|REFPROT:NP_001377 DBA|XM:NM_001386 |NA:AB020764 |NA:AB020777 |NA:AK092377 |NA:BC056408 |NA:BX647115 |NA:D78013 |NA:U17279 |NA:X91250 |NA:none PAC|XP:NP_001377 SYM|DPYSL2 NAM|dihydropyrimidinase-like 2 SYN|DRP2 |CRMP2 |DRP-2 |DHPRP2 FNC|dihydropyrimidinase-like 2 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 CHR|8 PRD|collapsin response mediator protein hCRMP-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=173381 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1808[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5496401 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001386 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001386 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=173381 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27472 DBL|UNIGENE:Hs.173381 |OMIM:602463 |SNP:1808 MAP|8p22-p21 ENZ|dihydropyrimidinase activity ; GO:0004157 |hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Dpysl2; score == 1100; expect == 0.0; MEOW:MGgn0003532 (98%) |species == rat; score == 900; expect == 0.0; MEOW:ref|XP_341343.1| (94%) |species == rat; score == 891; expect == 0.0; MEOW:ref|XP_341954.1| (76%) |species == Human; gene == DPYSL4; score == 890; expect == 0.0; MEOW:HUgn0010570 (75%) |species == Human; gene == DPYSL3; score == 888; expect == 0.0; MEOW:HUgn0001809 (76%) |species == Human; gene == CRMP1; score == 886; expect == 0.0; MEOW:HUgn0001400 (76%) |species == Mouse; gene == Crmp1; score == 886; expect == 0.0; MEOW:MGgn0001651 (76%) |species == Mouse; gene == Dpysl4; score == 884; expect == 0.0; MEOW:MGgn0003534 (75%) |species == rat; score == 884; expect == 0.0; MEOW:ref|NP_037064.1| (75%) |species == Mouse; gene == Dpysl3; score == 882; expect == 0.0; MEOW:MGgn0003533 (76%) |species == rat; score == 881; expect == 0.0; MEOW:ref|NP_037066.1| (76%) |species == Worm; gene == dhp-2; score == 500; expect == 7e-142; MEOW:CEgn0006677 (48%) |species == Mosquito; score == 491; expect == 6e-139; MEOW:AGgn0003198 (46%) |species == Mosquito; score == 490; expect == 6e-139; MEOW:AGgn0027055 (55%) |species == Worm; gene == dhp-1; score == 480; expect == 7e-136; MEOW:CEgn0030453 (47%) |species == rice; score == 405; expect == 7e-113; MEOW:gnl|TIGR|8350.m05558 (46%) |species == ecoli; score == 259; expect == 3.3e-70; MEOW:ref|NP_417349.1| (35%) |species == Weed; gene == At5g12200; score == 177; expect == 1.4e-44; MEOW:ATgn0025330 (44%) |species == Fruitfly; gene == CRMP; score == 143; expect == 1.7e-34; MEOW:FBgn0023023 (55%) } # EOR GENR { RETE|ID 1 HUgn0001809 CHR 1 5 DID 1 LocusLink:1809 MAP 1 5q32 NAM 1 dihydropyrimidinase-like 3 ORG 1 Homo sapiens SYM 1 DPYSL3 ID|HUgn0001809 DID|LocusLink:1809 ORG|Homo sapiens RSQ|REFSEQ:NM_001387 RPA|REFPROT:NP_001378 DBA|XM:NM_001387 |NA:AF246692 |NA:BC039006 |NA:D78014 |NA:Y07818 |NA:none PAC|XP:NP_001378 SYM|DPYSL3 NAM|dihydropyrimidinase-like 3 SYN|DRP3 |ULIP |CRMP4 |DRP-3 |CRMP-4 FNC|dihydropyrimidinase-like 3 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150358 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1809[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885804 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001387 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001387 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150358 DBL|UNIGENE:Hs.150358 |OMIM:601168 |SNP:1809 MAP|5q32 ENZ|dihydropyrimidinase activity ; GO:0004157 |hydrolase activity ; GO:0016787 HG|species == rat; score == 1107; expect == 0.0; MEOW:ref|NP_037066.1| (98%) |species == Mouse; gene == Dpysl3; score == 1105; expect == 0.0; MEOW:MGgn0003533 (98%) |species == Human; gene == DPYSL2; score == 888; expect == 0.0; MEOW:HUgn0001808 (76%) |species == Mouse; gene == Dpysl2; score == 886; expect == 0.0; MEOW:MGgn0003532 (76%) |species == Human; gene == CRMP1; score == 848; expect == 0.0; MEOW:HUgn0001400 (74%) |species == Human; gene == DPYSL4; score == 833; expect == 0.0; MEOW:HUgn0010570 (70%) |species == Worm; gene == dhp-2; score == 501; expect == 4e-142; MEOW:CEgn0006677 (50%) |species == Mosquito; score == 498; expect == 2e-141; MEOW:AGgn0003198 (46%) |species == Mosquito; score == 486; expect == 8e-138; MEOW:AGgn0027055 (56%) |species == Worm; gene == dhp-1; score == 473; expect == 8e-134; MEOW:CEgn0030453 (47%) |species == rice; score == 408; expect == 1e-113; MEOW:gnl|TIGR|8350.m05558 (45%) |species == ecoli; score == 260; expect == 2.0e-70; MEOW:ref|NP_417349.1| (35%) |species == Weed; gene == At5g12200; score == 174; expect == 1.6e-43; MEOW:ATgn0025330 (41%) |species == Fruitfly; gene == CRMP; score == 156; expect == 2.6e-38; MEOW:FBgn0023023 (60%) } # EOR GENR { RETE|ID 1 HUgn0001810 CHR 1 1 DID 1 LocusLink:1810 MAP 1 1p22.1 NAM 1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) ORG 1 Homo sapiens SYM 1 DR1 ID|HUgn0001810 DID|LocusLink:1810 ORG|Homo sapiens RSQ|REFSEQ:NM_001938 RPA|REFPROT:NP_001929 DBA|XM:NM_001938 |NA:AK057541 |NA:AL833729 |NA:BC002809 |NA:BC035507 |NA:M97388 |NA:none PAC|XP:NP_001929 SYM|DR1 NAM|down-regulator of transcription 1, TBP-binding (negative cofactor 2) SYN|NC2 |NC2-BETA FNC|down-regulator of transcription 1 |transcription ; GO:0006350 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|DR1 is a TBP- (TATA box-binding protein) associated phosphoprotein that represses |both basal and activated levels of transcription. DR1 is phosphorylated in vivo |and this phosphorylation affects its interaction with TBP. The DR1 protein contains |a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- |and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter |complexes may establish a mechanism in which an altered DNA conformation, together |with the formation of higher order complexes, inhibits the assembly of the preinitiation |complex and controls the rate of RNA polymerase II transcription. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348418 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1810[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1386726 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001938 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001938 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=348418 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27475 DBL|UNIGENE:Hs.348418 |OMIM:601482 |SNP:1810 MAP|1p22.1 ENZ|transcription co-repressor activity ; GO:0003714 |transcription factor binding ; GO:0008134 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 211; expect == 1.6e-55; MEOW:ref|XP_214124.2| (83%) |species == Mosquito; gene == LOC17122; score == 162; expect == 1.1e-40; MEOW:AGgn0017122 (60%) |species == Fruitfly; gene == NC2&bgr;; score == 157; expect == 2.3e-39; MEOW:FBgn0028926 (70%) } # EOR GENR { RETE|ID 1 HUgn0001811 CHR 1 7 DID 1 LocusLink:1811 MAP 1 7q31 NAM 1 solute carrier family 26, member 3 ORG 1 Homo sapiens SYM 1 SLC26A3 ID|HUgn0001811 DID|LocusLink:1811 ORG|Homo sapiens RSQ|REFSEQ:NM_000111 RPA|REFPROT:NP_000102 DBA|XM:NM_000111 |XM:NM_000111 |NA:AC002467 |NA:BC025671 |NA:BX640837 |NA:L02785 |NA:none PAC|XP:NP_000102 |XP:NP_000102 SYM|SLC26A3 NAM|solute carrier family 26, member 3 SYN|CLD |DRA FNC|down-regulated in adenoma protein |sulfate transport ; GO:0008272 |anion transport ; GO:0006820 |transport ; GO:0006810 |excretion ; GO:0007588 REAB|The protein encoded by this gene is a transmembrane glycoprotein that functions as |a sulfate transporter. It is localized to the mucosa of the lower intestinal tract, |particularly to the apical membrane of columnar epithelium and some goblet cells. |Mutations in this gene have been associated with congenital chloride diarrhea. CHR|7 PRD|down-regulated in adenoma URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1650 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1811[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138165 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000111 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000111 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1650 |http://www.geneclinics.org/query?mim=126650 DBL|UNIGENE:Hs.1650 |OMIM:126650 |SNP:1811 MAP|7q31 ENZ|transcription cofactor activity ; GO:0003712 |transporter activity ; GO:0005215 |transcription factor activity ; GO:0003700 |sulfate porter activity ; GO:0008271 |antiporter activity ; GO:0015297 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 1136; expect == 0.0; MEOW:ref|NP_446207.1| (80%) |species == Mouse; gene == Slc26a3; score == 1134; expect == 0.0; MEOW:MGgn0003537 (79%) |species == Human; gene == SLC26A4; score == 616; expect == 2e-176; MEOW:HUgn0005172 (48%) |species == Human; gene == LOC375611; score == 496; expect == 2e-140; MEOW:HUgn0375611 (39%) |species == Human; gene == LOC378163; score == 496; expect == 2e-140; MEOW:HUgn0378163 (39%) |species == Worm; gene == K12G11.2; score == 300; expect == 2.4e-81; MEOW:CEgn0013881 (30%) |species == Worm; gene == K12G11.1; score == 273; expect == 2.0e-73; MEOW:CEgn0013880 (29%) |species == Worm; gene == ZK287.2; score == 267; expect == 1.3e-71; MEOW:CEgn0020881 (33%) |species == Mosquito; gene == LOC18533; score == 262; expect == 2.5e-70; MEOW:AGgn0018533 (32%) |species == Mosquito; score == 248; expect == 7.4e-66; MEOW:AGgn0028863 (32%) |species == Worm; gene == F14D12.5; score == 245; expect == 6.5e-65; MEOW:CEgn0008432 (31%) |species == Fruitfly; gene == Prestin; score == 245; expect == 7.5e-65; MEOW:FBgn0036770 (30%) |species == Mosquito; gene == LOC16118; score == 224; expect == 1.0e-58; MEOW:AGgn0016118 (30%) |species == Mosquito; score == 222; expect == 3.0e-58; MEOW:AGgn0025770 (31%) |species == Mosquito; score == 219; expect == 1.4e-57; MEOW:AGgn0026074 (34%) |species == Weed; gene == At1g23090; score == 209; expect == 5.0e-54; MEOW:ATgn0005751 (28%) |species == Weed; gene == At5g13550; score == 206; expect == 3.1e-53; MEOW:ATgn0026164 (28%) |species == rice; score == 206; expect == 2.6e-53; MEOW:gnl|TIGR|8360.m00547 (28%) |species == Weed; gene == At3g51895; score == 202; expect == 6.4e-52; MEOW:ATgn0029061 (28%) |species == Weed; gene == At3g12520; score == 200; expect == 1.9e-51; MEOW:ATgn0016715 (28%) |species == Weed; gene == At3g15990; score == 197; expect == 1.6e-50; MEOW:ATgn0014182 (26%) |species == rice; score == 187; expect == 1.6e-47; MEOW:gnl|TIGR|8360.m00837 (26%) |species == rice; score == 183; expect == 4.0e-46; MEOW:gnl|TIGR|8356.m03007 (27%) |species == Weed; gene == At1g78000; score == 178; expect == 9.7e-45; MEOW:ATgn0004026 (27%) |species == Weed; gene == At4g02700; score == 177; expect == 1.3e-44; MEOW:ATgn0018715 (27%) |species == rice; score == 177; expect == 3.4e-44; MEOW:gnl|TIGR|8362.m02114 (26%) |species == rice; score == 175; expect == 6.3e-44; MEOW:gnl|TIGR|8360.m00838 (25%) |species == Weed; gene == At4g08620; score == 174; expect == 1.4e-43; MEOW:ATgn0019141 (27%) |species == Weed; gene == At5g19600; score == 173; expect == 2.3e-43; MEOW:ATgn0025049 (26%) |species == rice; score == 169; expect == 3.5e-42; MEOW:gnl|TIGR|8354.m00418 (25%) } # EOR GENR { RETE|ID 1 HUgn0001812 CHR 1 5 DID 1 LocusLink:1812 MAP 1 5q35.1 NAM 1 dopamine receptor D1 ORG 1 Homo sapiens SYM 1 DRD1 ID|HUgn0001812 DID|LocusLink:1812 ORG|Homo sapiens RSQ|REFSEQ:NM_000794 RPA|REFPROT:NP_000785 DBA|XM:NM_000794 |NA:M85247 |NA:S58541 |NA:X55758 |NA:X55760 |NA:AF498961 |NA:X58987 |NA:none PAC|XP:NP_000785 SYM|DRD1 NAM|dopamine receptor D1 SYN|DADR |DRD1A FNC|dopamine receptor D1 |dopamine receptor, adenylate cyclase activating pathway ; GO:0007191 |dopamine receptor signaling pathway ; GO:0007212 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein signaling, coupled to cyclic nucleotide second messenger ; GO:0007187 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 REAB|This gene encodes the D1 subtype of the dopamine receptor.The D1 subtype is the most |abundant dopamine receptor in the central nervous system. This G-protein coupled |receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein |kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral |responses, and modulate dopamine receptor D2-mediated events. Alternate transcription |initiation sites result in two transcript variants of this gene. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2624 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1812[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125240 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000794 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000794 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA147 DBL|UNIGENE:Hs.2624 |OMIM:126449 |SNP:1812 MAP|5q35.1 ENZ|dopamine receptor activity ; GO:0004952 |rhodopsin-like receptor activity ; GO:0001584 CEL|cell ; GO:0005623 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Drd1a; score == 763; expect == 0.0; MEOW:MGgn0003538 (91%) |species == rat; score == 760; expect == 0.0; MEOW:ref|NP_036678.1| (91%) |species == Human; gene == DRD5; score == 468; expect == 2e-132; MEOW:HUgn0001816 (58%) |species == Fruitfly; gene == DopR; score == 233; expect == 1.5e-61; MEOW:FBgn0011582 (39%) |species == chimp; score == 231; expect == 5.0e-61; MEOW:sp|Q8HZG3|Q8HZG3 (37%) |species == Fruitfly; gene == CG6919; score == 208; expect == 6.5e-54; MEOW:FBgn0038980 (39%) |species == Mosquito; gene == LOC1444; score == 199; expect == 1.1e-51; MEOW:AGgn0001444 (40%) |species == chimp; score == 199; expect == 2.5e-51; MEOW:sp|BAA94470|BAA94470 (34%) |species == Worm; gene == dop-1; score == 181; expect == 6.6e-46; MEOW:CEgn0030879 (37%) |species == Mosquito; gene == LOC12916; score == 170; expect == 9.4e-43; MEOW:AGgn0012916 (37%) |species == Mosquito; gene == LOC12908; score == 169; expect == 2.1e-42; MEOW:AGgn0012908 (37%) } # EOR GENR { RETE|ID 1 HUgn0001813 CHR 1 11 DID 1 LocusLink:1813 MAP 1 11q23 NAM 1 dopamine receptor D2 ORG 1 Homo sapiens SYM 1 DRD2 ID|HUgn0001813 DID|LocusLink:1813 ORG|Homo sapiens RSQ|REFSEQ:NM_000795 |REFSEQ:NM_016574 RPA|REFPROT:NP_000786 |REFPROT:NP_057658 DBA|XM:NM_000795 |XM:NM_016574 |NA:AF050737 |NA:M77249 |NA:S58589 |NA:X51646 |NA:AF176812 |NA:BC021195 |NA:M29066 |NA:M30625 |NA:S62137 |NA:S69899 |NA:X51362 |NA:X51645 |NA:none PAC|XP:NP_000786 |XP:NP_057658 SYM|DRD2 NAM|dopamine receptor D2 SYN|D2R |D2DR FNC|dopamine receptor D2 isoform long |dopamine receptor D2 isoform short |dopamine receptor, adenylate cyclase inhibiting pathway ; GO:0007195 |dopamine receptor signaling pathway ; GO:0007212 |synaptic transmission ; GO:0007268 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 REAB|This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled |receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes |myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative |splicing of this gene results in two transcript variants encoding different isoforms. |A third variant has been described, but it has not been determined whether this |form is normal or due to aberrant splicing. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73893 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1813[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119852 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000795 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000795 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73893 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27478 DBL|UNIGENE:Hs.73893 |OMIM:126450 |SNP:1813 |UWCM:119852.html MAP|11q23 PHP|Dystonia, myoclonic ENZ|dopamine receptor activity ; GO:0004952 |rhodopsin-like receptor activity ; GO:0001584 CEL|intermediate filament ; GO:0005882 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Drd2; score == 811; expect == 0.0; MEOW:MGgn0003539 (95%) |species == rat; score == 811; expect == 0.0; MEOW:ref|XP_346831.1| (95%) |species == chimp; score == 775; expect == 0.0; MEOW:sp|BAC10668|BAC10668 (100%) |species == Human; gene == DRD3; score == 354; expect == 5.5e-98; MEOW:HUgn0001814 (52%) |species == rat; score == 334; expect == 6.7e-92; MEOW:ref|NP_058836.1| (53%) |species == Mouse; gene == Drd3; score == 310; expect == 1.0e-84; MEOW:MGgn0003540 (51%) |species == Mosquito; gene == LOC13461; score == 193; expect == 2.6e-49; MEOW:AGgn0013461 (31%) |species == Mosquito; gene == LOC1531; score == 189; expect == 4.0e-48; MEOW:AGgn0001531 (34%) |species == Mosquito; gene == LOC18839; score == 184; expect == 7.6e-47; MEOW:AGgn0018839 (32%) |species == Worm; gene == ser-2; score == 167; expect == 1.1e-41; MEOW:CEgn0031307 (34%) |species == Fruitfly; gene == DD2R; score == 141; expect == 8.7e-34; MEOW:FBgn0031083 (46%) |species == Fruitfly; gene == CG7431; score == 141; expect == 9.7e-34; MEOW:FBgn0038542 (39%) |species == Fruitfly; gene == 5-HT2; score == 132; expect == 6.5e-31; MEOW:FBgn0013743 (37%) } # EOR GENR { RETE|ID 1 HUgn0001814 CHR 1 3 DID 1 LocusLink:1814 MAP 1 3q13.3 NAM 1 dopamine receptor D3 ORG 1 Homo sapiens SYM 1 DRD3 ID|HUgn0001814 DID|LocusLink:1814 ORG|Homo sapiens RSQ|REFSEQ:NM_000796 |REFSEQ:NM_033658 |REFSEQ:NM_033659 |REFSEQ:NM_033660 |REFSEQ:NM_033663 RPA|REFPROT:NP_000787 |REFPROT:NP_387507 |REFPROT:NP_387508 |REFPROT:NP_387509 |REFPROT:NP_387512 DBA|XM:NM_000796 |XM:NM_033658 |XM:NM_033659 |XM:NM_033660 |XM:NM_033663 |NA:A19667 |NA:AF148807 |NA:AF263450 |NA:AJ271348 |NA:L35903 |NA:U25441 |NA:L20469 |NA:U32499 |NA:none PAC|XP:NP_000787 |XP:NP_387507 |XP:NP_387508 |XP:NP_387509 |XP:NP_387512 SYM|DRD3 NAM|dopamine receptor D3 SYN|D3DR FNC|dopamine receptor D3 isoform a |dopamine receptor D3 isoform b |dopamine receptor D3 isoform c |dopamine receptor D3 isoform d |dopamine receptor D3 isoform e |dopamine receptor signaling pathway ; GO:0007212 |synaptic transmission ; GO:0007268 |behavior ; GO:0007610 REAB|This gene encodes the D3 subtype of the dopamine receptor. The D3 subtype inhibits |adenylyl cyclase through inhibitory G-proteins. This receptor is expressed in phylogenetically |older regions of the brain, suggesting that this receptor plays a role in cognitive |and emotional functions. It is a target for drugs which treat schizophrenia and |Parkinson disease. Alternative splicing of this gene results in five transcript |variants encoding different isoforms. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121478 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1814[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127159 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000796 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000796 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27479 DBL|UNIGENE:Hs.121478 |OMIM:126451 |SNP:1814 MAP|3q13.3 PHP|?Schizophrenia, susceptibility to ENZ|dopamine receptor activity ; GO:0004952 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Drd3; score == 683; expect == 0.0; MEOW:MGgn0003540 (81%) |species == rat; score == 670; expect == 0.0; MEOW:ref|NP_058836.1| (79%) |species == Human; gene == DRD2; score == 354; expect == 5.5e-98; MEOW:HUgn0001813 (52%) |species == chimp; score == 354; expect == 1.0e-99; MEOW:sp|BAC10668|BAC10668 (52%) |species == Fruitfly; gene == DD2R; score == 219; expect == 9.5e-58; MEOW:FBgn0031083 (37%) |species == Worm; gene == ser-2; score == 191; expect == 4.2e-49; MEOW:CEgn0031307 (32%) |species == Mosquito; gene == LOC13461; score == 181; expect == 6.0e-46; MEOW:AGgn0013461 (32%) |species == Fruitfly; gene == 5-HT7; score == 176; expect == 1.6e-44; MEOW:FBgn0004573 (37%) |species == Mosquito; gene == LOC4047; score == 158; expect == 3.2e-39; MEOW:AGgn0004047 (32%) |species == Worm; gene == ser-7; score == 157; expect == 8.1e-39; MEOW:CEgn0004438 (31%) } # EOR GENR { RETE|ID 1 HUgn0001815 CHR 1 11 DID 1 LocusLink:1815 MAP 1 11p15.5 NAM 1 dopamine receptor D4 ORG 1 Homo sapiens SYM 1 DRD4 ID|HUgn0001815 DID|LocusLink:1815 ORG|Homo sapiens RSQ|REFSEQ:NM_000797 RPA|REFPROT:NP_000788 DBA|XM:NM_000797 |NA:L12397 |NA:S82917 |NA:S82918 |NA:L12398 |NA:S76942 |NA:none PAC|XP:NP_000788 SYM|DRD4 NAM|dopamine receptor D4 SYN|D4DR FNC|dopamine receptor D4 |dopamine receptor signaling pathway ; GO:0007212 |synaptic transmission ; GO:0007268 REAB|This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein |coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which |treat schizophrenia and Parkinson disease. Mutations in this gene have been associated |with various behavioral phenotypes, including autonomic nervous system dysfunction, |attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. |This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the |sequence shown contains four repeats. CHR|11 PRD|D(2C) dopamine receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99922 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1815[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127782 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000797 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000797 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27480 DBL|UNIGENE:Hs.99922 |OMIM:126452 |SNP:1815 |UWCM:127782.html MAP|11p15.5 PHP|Autonomic nervous system dysfunction |Novelty seeking personality ENZ|dopamine receptor activity ; GO:0004952 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Drd4; score == 290; expect == 9.3e-79; MEOW:MGgn0003541 (83%) |species == rat; score == 278; expect == 4.7e-75; MEOW:ref|NP_037076.1| (86%) |species == Human; gene == DRD3; score == 150; expect == 1.6e-36; MEOW:HUgn0001814 (48%) |species == Fruitfly; gene == DD2R; score == 148; expect == 5.5e-36; MEOW:FBgn0031083 (50%) |species == chimp; score == 127; expect == 1.9e-31; MEOW:sp|BAC10668|BAC10668 (48%) } # EOR GENR { RETE|ID 1 HUgn0001816 CHR 1 4 DID 1 LocusLink:1816 MAP 1 4p16.1 NAM 1 dopamine receptor D5 ORG 1 Homo sapiens SYM 1 DRD5 ID|HUgn0001816 DID|LocusLink:1816 ORG|Homo sapiens RSQ|REFSEQ:NM_000798 RPA|REFPROT:NP_000789 DBA|XM:NM_000798 |NA:M67439 |NA:U21164 |NA:X58454 |NA:AY136750 |NA:BC009748 |NA:none PAC|XP:NP_000789 SYM|DRD5 NAM|dopamine receptor D5 SYN|DBDR |DRD1B |DRD1L2 |MGC10601 FNC|dopamine receptor D5 |dopamine receptor, adenylate cyclase activating pathway ; GO:0007191 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein |coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in |neurons in the limbic regions of the brain. It has a 10-fold higher affinity for |dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes |1 and 2. CHR|4 PRD|dopamine receptor D1B |D1beta dopamine receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380681 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1816[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127548 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000798 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000798 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380681 DBL|UNIGENE:Hs.380681 |OMIM:126453 |SNP:1816 MAP|4p16.1 PHP|Blepharospasm, primary benign |Dystonia, primary cervical ENZ|dopamine receptor activity ; GO:0004952 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 745; expect == 0.0; MEOW:ref|NP_036900.1| (82%) |species == Mouse; gene == Drd5; score == 743; expect == 0.0; MEOW:MGgn0003542 (81%) |species == Human; gene == DRD1; score == 468; expect == 2e-132; MEOW:HUgn0001812 (58%) |species == Fruitfly; gene == DopR; score == 231; expect == 7.3e-61; MEOW:FBgn0011582 (36%) |species == chimp; score == 203; expect == 1.5e-52; MEOW:sp|Q8HZG3|Q8HZG3 (35%) |species == Worm; gene == dop-1; score == 198; expect == 5.7e-51; MEOW:CEgn0030879 (36%) |species == Mosquito; gene == LOC1444; score == 197; expect == 6.0e-51; MEOW:AGgn0001444 (36%) |species == Fruitfly; gene == CG6919; score == 194; expect == 5.3e-50; MEOW:FBgn0038980 (34%) |species == chimp; score == 189; expect == 1.5e-48; MEOW:sp|BAA94470|BAA94470 (33%) |species == Mosquito; score == 187; expect == 6.2e-48; MEOW:AGgn0018804 (33%) |species == chimp; score == 166; expect == 4.8e-43; MEOW:sp|Q8HZF9|Q8HZF9 (33%) } # EOR GENR { RETE|ID 1 HUgn0001817 CHR 1 2 DID 1 LocusLink:1817 MAP 1 2p11.2-p11.1 NAM 1 dopamine receptor D5 pseudogene 1 ORG 1 Homo sapiens SYM 1 DRD5P1 ID|HUgn0001817 DID|LocusLink:1817 CLA|Pseudogene ORG|Homo sapiens SYM|DRD5P1 NAM|dopamine receptor D5 pseudogene 1 CHR|2 MAP|2p11.2-p11.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129035 } # EOR GENR { RETE|ID 1 HUgn0001818 CHR 1 1 DID 1 LocusLink:1818 MAP 1 1q21.1 NAM 1 dopamine receptor D5 pseudogene 2 ORG 1 Homo sapiens SYM 1 DRD5P2 ID|HUgn0001818 DID|LocusLink:1818 CLA|Pseudogene ORG|Homo sapiens SYM|DRD5P2 NAM|dopamine receptor D5 pseudogene 2 CHR|1 MAP|1q21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:129036 } # EOR GENR { RETE|ID 1 HUgn0001819 CHR 1 17 DID 1 LocusLink:1819 MAP 1 17p11.2 NAM 1 developmentally regulated GTP binding protein 2 ORG 1 Homo sapiens SYM 1 DRG2 ID|HUgn0001819 DID|LocusLink:1819 ORG|Homo sapiens RSQ|REFSEQ:NM_001388 RPA|REFPROT:NP_001379 DBA|XM:NM_001388 |NA:BC000493 |NA:BT006976 |NA:X80754 |NA:none PAC|XP:NP_001379 SYM|DRG2 NAM|developmentally regulated GTP binding protein 2 FNC|developmentally regulated GTP binding protein 2 |cell growth and/or maintenance ; GO:0008151 |signal transduction ; GO:0007165 REAB|The DRG2 gene encodes the developmentally regulated GTP-binding protein 2, a name |derived from the fact that it shares significant similarity to known GTP-binding |proteins. DRG2 was identified because it is expressed in normal fibroblasts but |not in SV40-transformed fibroblasts. Read-through transcripts containing this gene |and a downstream gene have been identified, but they are not thought to encode a |fusion protein. This gene is located within the Smith-Magenis syndrome region on |chromosome 17. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78582 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1819[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9142879 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001388 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001388 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78582 DBL|UNIGENE:Hs.78582 |OMIM:602986 |SNP:1819 MAP|17p11.2 ENZ|GTP binding ; GO:0005525 HG|species == Mouse; gene == Drg2; score == 688; expect == 0.0; MEOW:MGgn0003545 (98%) |species == Fruitfly; gene == CG6195; score == 577; expect == 3e-165; MEOW:FBgn0038723 (80%) |species == Mosquito; gene == LOC13421; score == 574; expect == 3e-164; MEOW:AGgn0013421 (79%) |species == Worm; gene == C02F5.3; score == 541; expect == 5e-154; MEOW:CEgn0003833 (74%) |species == Weed; gene == At1g17470; score == 480; expect == 7e-136; MEOW:ATgn0005835 (64%) |species == Weed; gene == At1g72660; score == 478; expect == 2e-135; MEOW:ATgn0005064 (64%) |species == Yeast; gene == GIR1; score == 422; expect == 1e-118; MEOW:SGgn0003405 (58%) |species == rice; score == 407; expect == 1e-113; MEOW:gnl|TIGR|8355.m04145 (58%) |species == Weed; gene == At4g39520; score == 400; expect == 8e-112; MEOW:ATgn0017611 (57%) |species == Human; gene == DRG1; score == 395; expect == 2e-110; MEOW:HUgn0004733 (57%) |species == rat; score == 395; expect == 2e-110; MEOW:ref|XP_223591.2| (57%) |species == Yeast; gene == FUN11; score == 372; expect == 5e-104; MEOW:SGgn0000034 (54%) |species == rice; score == 365; expect == 1e-101; MEOW:gnl|TIGR|8353.m02513 (68%) } # EOR GENR { RETE|ID 1 HUgn0001820 CHR 1 19 DID 1 LocusLink:1820 MAP 1 19p13.3 NAM 1 dead ringer-like 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DRIL1 ID|HUgn0001820 DID|LocusLink:1820 ORG|Homo sapiens RSQ|REFSEQ:NM_005224 RPA|REFPROT:NP_005215 DBA|XM:NM_005224 |NA:AC005379 |NA:AC005391 |NA:AF039844 |NA:AF039850 |NA:AY152547 |NA:BC033163 |NA:BC060828 |NA:U88047 |NA:none PAC|XP:NP_005215 SYM|DRIL1 NAM|dead ringer-like 1 (Drosophila) SYN|BRIGHT |E2FBP1 FNC|dead ringer-like 1 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene is a member of the ARID (AT-rich interaction domain) family of proteins |which bind DNA. It was found by its homology to the Drosophila dead ringer gene, |which is important for normal embryogenesis. Other ARID family members have roles |in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional |regulation and possibly in chromatin structure modification. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1820[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6820865 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005224 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005224 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437783 DBL|UNIGENE:Hs.437783 |OMIM:603265 |SNP:1820 MAP|19p13.3 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Dri1; score == 647; expect == 0.0; MEOW:MGgn0003546 (81%) |species == rat; score == 557; expect == 6e-159; MEOW:ref|XP_234884.2| (68%) |species == Human; gene == DRIL2; score == 342; expect == 3.5e-94; MEOW:HUgn0010620 (59%) |species == Fruitfly; gene == retn; score == 221; expect == 1.9e-57; MEOW:FBgn0004795 (78%) } # EOR GENR { RETE|ID 1 HUgn0001821 CHR 1 X DID 1 LocusLink:1821 MAP 1 Xq22 NAM 1 dystrophin related protein 2 ORG 1 Homo sapiens SYM 1 DRP2 ID|HUgn0001821 DID|LocusLink:1821 ORG|Homo sapiens RSQ|REFSEQ:NM_001939 RPA|REFPROT:NP_001930 DBA|XM:NM_001939 |NA:U43519 |NA:none PAC|XP:NP_001930 SYM|DRP2 NAM|dystrophin related protein 2 FNC|dystrophin related protein 2 |central nervous system development ; GO:0007417 REAB|Members of the dystrophin family of proteins perform a critical role in the maintenance |of membrane-associated complexes at points of intercellular contact in vertebrate |cells. Dystrophin related protein 2 is predicted to resemble certain short C-terminal |isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 |is expressed principally in the brain and spinal cord. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159291 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1821[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1391767 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001939 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001939 |http://www.dmd.nl DBL|UNIGENE:Hs.159291 |OMIM:300052 |SNP:1821 MAP|Xq22 ENZ|structural molecule activity ; GO:0005198 |zinc ion binding ; GO:0008270 CEL|cytoskeleton ; GO:0005856 HG|species == rat; score == 1782; expect == 0.0; MEOW:ref|XP_346878.1| (95%) |species == Mouse; gene == Drp2; score == 1757; expect == 0.0; MEOW:MGgn0003548 (94%) |species == Human; gene == DMD; score == 958; expect == 0.0; MEOW:HUgn0001756 (55%) |species == Human; gene == UTRN; score == 878; expect == 0.0; MEOW:HUgn0007402 (51%) |species == Zfish; gene == dmd; score == 847; expect == 0.0; MEOW:ZFgn0002226 (50%) |species == Mosquito; score == 557; expect == 7e-159; MEOW:AGgn0002882 (38%) |species == Fruitfly; gene == Dys; score == 553; expect == 8e-158; MEOW:FBgn0024242 (39%) } # EOR GENR { RETE|ID 1 HUgn0001822 CHR 1 12 DID 1 LocusLink:1822 MAP 1 12p13.31 NAM 1 dentatorubral-pallidoluysian atrophy (atrophin-1) ORG 1 Homo sapiens SYM 1 DRPLA ID|HUgn0001822 DID|LocusLink:1822 ORG|Homo sapiens RSQ|REFSEQ:NM_001940 RPA|REFPROT:NP_001931 DBA|XM:NM_001940 |NA:D63808 |NA:U47924 |NA:BC051795 |NA:D31840 |NA:D38529 |NA:U23851 |NA:none PAC|XP:NP_001931 SYM|DRPLA NAM|dentatorubral-pallidoluysian atrophy (atrophin-1) SYN|B37 |NOD |ATN1 FNC|atrophin-1 |central nervous system development ; GO:0007417 REAB|Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized |by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder |is related to the expansion of a trinucleotide repeat within the DRPLA gene. The |protein includes a serine repeat and a region of alternating acidic and basic amino |acids, as well as the variable glutamine repeat. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169488 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1822[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270336 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001940 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001940 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169488 |http://www.geneclinics.org/query?mim=125370 |http://www.geneclinics.org/query?mim=607462 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 DBL|UNIGENE:Hs.169488 |OMIM:607462 |SNP:1822 |UWCM:270336.html MAP|12p13.31 PHP|Dentatorubro-pallidoluysian atrophy ENZ|protein binding ; GO:0005515 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Drpla; score == 1180; expect == 0.0; MEOW:MGgn0003549 (89%) |species == rat; score == 414; expect == 2e-115; MEOW:ref|NP_446337.1| (66%) |species == Human; gene == RERE; score == 409; expect == 9e-114; MEOW:HUgn0000473 (66%) } # EOR GENR { RETE|ID 1 HUgn0001823 CHR 1 18 DID 1 LocusLink:1823 MAP 1 18q12.2 NAM 1 desmocollin 1 ORG 1 Homo sapiens SYM 1 DSC1 ID|HUgn0001823 DID|LocusLink:1823 ORG|Homo sapiens RSQ|REFSEQ:NM_004948 |REFSEQ:NM_024421 RPA|REFPROT:NP_004939 |REFPROT:NP_077739 DBA|XM:NM_004948 |XM:NM_024421 |NA:AF293358 |NA:Y11051 |NA:X72925 |NA:Z34522 PAC|XP:NP_004939 |XP:NP_077739 SYM|DSC1 NAM|desmocollin 1 SYN|CDHF1 |DG2/DG3 FNC|desmocollin 1 isoform Dsc1a preproprotein |desmocollin 1 isoform Dsc1b preproprotein |cell shape and cell size control ; GO:0007148 REAB|The protein encoded by this gene is a calcium-dependent glycoprotein that is a member |of the desmocollin subfamily of the cadherin superfamily. These desmosomal family |members, along with the desmogleins, are found primarily in epithelial cells where |they constitute the adhesive proteins of the desmosome cell-cell junction and are |required for cell adhesion and desmosome formation. The desmosomal family members |are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. |Alternative splicing results in two isoforms encoded by each desmocollin gene. CHR|18 PRD|desmosomal glycoprotein 2/3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348436 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1823[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128632 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004948 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004948 DBL|UNIGENE:Hs.348436 |OMIM:125643 |SNP:1823 MAP|18q12.2 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|gap junction ; GO:0005921 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Dsc1; score == 1365; expect == 0.0; MEOW:MGgn0003556 (80%) |species == rat; score == 1128; expect == 0.0; MEOW:ref|XP_226119.2| (71%) |species == Human; gene == DSC2; score == 835; expect == 0.0; MEOW:HUgn0001824 (52%) |species == Human; gene == DSC3; score == 796; expect == 0.0; MEOW:HUgn0001825 (51%) |species == Zfish; gene == cdh2; score == 394; expect == 8e-111; MEOW:ZFgn0000469 (36%) |species == Zfish; gene == cdh1; score == 343; expect == 1.2e-95; MEOW:ZFgn0002231 (32%) |species == Fruitfly; gene == CadN; score == 163; expect == 1.9e-40; MEOW:FBgn0015609 (28%) |species == Mosquito; score == 157; expect == 1.0e-38; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10175; score == 157; expect == 1.0e-38; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 157; expect == 1.0e-38; MEOW:AGgn0010219 (28%) |species == Mosquito; gene == LOC10132; score == 156; expect == 2.2e-38; MEOW:AGgn0010132 (29%) |species == Mosquito; gene == LOC14551; score == 146; expect == 3.0e-35; MEOW:AGgn0014551 (26%) |species == Mosquito; gene == LOC10153; score == 141; expect == 7.5e-34; MEOW:AGgn0010153 (28%) |species == Fruitfly; gene == CadN2; score == 135; expect == 5.6e-32; MEOW:FBgn0032655 (29%) } # EOR GENR { RETE|ID 1 HUgn0001824 CHR 1 18 DID 1 LocusLink:1824 MAP 1 18q12.1 NAM 1 desmocollin 2 ORG 1 Homo sapiens SYM 1 DSC2 ID|HUgn0001824 DID|LocusLink:1824 ORG|Homo sapiens RSQ|REFSEQ:NM_004949 |REFSEQ:NM_024422 RPA|REFPROT:NP_004940 |REFPROT:NP_077740 DBA|XM:NM_004949 |XM:NM_024422 |NA:Y08431 |NA:BE813598 |NA:BX648425 |NA:X56807 |NA:none PAC|XP:NP_004940 |XP:NP_077740 SYM|DSC2 NAM|desmocollin 2 SYN|DG2 |DSC3 |CDHF2 |DGII/III FNC|desmocollin 2 isoform Dsc2a preproprotein |desmocollin 2 isoform Dsc2b preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|The protein encoded by this gene is a calcium-dependent glycoprotein that is a member |of the desmocollin subfamily of the cadherin superfamily. These desmosomal family |members, along with the desmogleins, are found primarily in epithelial cells where |they constitute the adhesive proteins of the desmosome cell-cell junction and are |required for cell adhesion and desmosome formation. The desmosomal family members |are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. |Alternative splicing results in two isoforms encoded by each desmocollin gene. CHR|18 PRD|desmocollin-3 |desmosomal glycoprotein II/III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=95612 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1824[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6224677 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004949 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004949 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27489 DBL|UNIGENE:Hs.95612 |OMIM:125645 |SNP:1824 MAP|18q12.1 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dsc2; score == 1246; expect == 0.0; MEOW:MGgn0003557 (76%) |species == Human; gene == DSC3; score == 1107; expect == 0.0; MEOW:HUgn0001825 (65%) |species == rat; score == 1082; expect == 0.0; MEOW:ref|XP_226120.2| (67%) |species == Mouse; gene == Dsc3; score == 1005; expect == 0.0; MEOW:MGgn0003558 (62%) |species == rat; score == 917; expect == 0.0; MEOW:ref|XP_226122.2| (55%) |species == Zfish; gene == cdh2; score == 377; expect == 1e-105; MEOW:ZFgn0000469 (34%) |species == Zfish; gene == cdh1; score == 341; expect == 1.2e-93; MEOW:ZFgn0002231 (34%) |species == Mosquito; gene == LOC10132; score == 167; expect == 1.7e-41; MEOW:AGgn0010132 (28%) |species == Fruitfly; gene == CadN; score == 163; expect == 2.5e-40; MEOW:FBgn0015609 (31%) |species == Mosquito; score == 160; expect == 1.6e-39; MEOW:AGgn0001731 (31%) |species == Mosquito; gene == LOC10175; score == 160; expect == 1.6e-39; MEOW:AGgn0010175 (31%) |species == Mosquito; score == 160; expect == 1.6e-39; MEOW:AGgn0010219 (31%) |species == Mosquito; gene == LOC10153; score == 151; expect == 1.2e-36; MEOW:AGgn0010153 (29%) |species == Fruitfly; gene == CadN2; score == 146; expect == 4.2e-35; MEOW:FBgn0032655 (29%) |species == Mosquito; score == 143; expect == 2.0e-34; MEOW:AGgn0028484 (28%) |species == Mosquito; gene == LOC13129; score == 141; expect == 1.3e-33; MEOW:AGgn0013129 (29%) |species == Mosquito; score == 139; expect == 4.9e-33; MEOW:AGgn0004696 (29%) |species == Mosquito; gene == LOC14551; score == 137; expect == 1.1e-32; MEOW:AGgn0014551 (27%) |species == Mosquito; gene == LOC13113; score == 135; expect == 7.0e-32; MEOW:AGgn0013113 (30%) } # EOR GENR { RETE|ID 1 HUgn0001825 CHR 1 18 DID 1 LocusLink:1825 MAP 1 18q12.1 NAM 1 desmocollin 3 ORG 1 Homo sapiens SYM 1 DSC3 ID|HUgn0001825 DID|LocusLink:1825 ORG|Homo sapiens RSQ|REFSEQ:NM_001941 |REFSEQ:NM_024423 RPA|REFPROT:NP_001932 |REFPROT:NP_077741 DBA|XM:NM_001941 |XM:NM_024423 |NA:AF293359 |NA:AF297090 |NA:AK074475 |NA:D17427 |NA:X83929 |NA:none PAC|XP:NP_001932 |XP:NP_077741 SYM|DSC3 NAM|desmocollin 3 SYN|DSC |DSC1 |DSC2 |DSC4 |CDHF3 |HT-CP FNC|desmocollin 3 isoform Dsc3a preproprotein |desmocollin 3 isoform Dsc3b preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|The protein encoded by this gene is a calcium-dependent glycoprotein that is a member |of the desmocollin subfamily of the cadherin superfamily. These desmosomal family |members, along with the desmogleins, are found primarily in epithelial cells where |they constitute the adhesive proteins of the desmosome cell-cell junction and are |required for cell adhesion and desmosome formation. The desmosomal family members |are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. |Alternative splicing results in two isoforms encoded by each desmocollin gene. CHR|18 PRD|desmocollin 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=41690 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1825[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126552 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_024423 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_024423 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27490 DBL|UNIGENE:Hs.41690 |OMIM:600271 |SNP:1825 MAP|18q12.1 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Dsc3; score == 1394; expect == 0.0; MEOW:MGgn0003558 (77%) |species == rat; score == 1261; expect == 0.0; MEOW:ref|XP_226122.2| (68%) |species == Human; gene == DSC2; score == 1107; expect == 0.0; MEOW:HUgn0001824 (65%) |species == Zfish; gene == cdh2; score == 403; expect == 1e-113; MEOW:ZFgn0000469 (35%) |species == Zfish; gene == cdh1; score == 355; expect == 4.2e-99; MEOW:ZFgn0002231 (32%) |species == Mosquito; gene == LOC10132; score == 178; expect == 7.7e-45; MEOW:AGgn0010132 (27%) |species == Fruitfly; gene == CadN; score == 175; expect == 6.9e-44; MEOW:FBgn0015609 (27%) |species == Mosquito; score == 174; expect == 1.5e-43; MEOW:AGgn0001731 (27%) |species == Mosquito; gene == LOC10175; score == 174; expect == 1.5e-43; MEOW:AGgn0010175 (27%) |species == Mosquito; score == 174; expect == 1.5e-43; MEOW:AGgn0010219 (27%) } # EOR GENR { RETE|ID 1 HUgn0001826 CHR 1 21 DID 1 LocusLink:1826 MAP 1 21q22.2 NAM 1 Down syndrome cell adhesion molecule ORG 1 Homo sapiens SYM 1 DSCAM ID|HUgn0001826 DID|LocusLink:1826 ORG|Homo sapiens RSQ|REFSEQ:NM_001389 RPA|REFPROT:NP_001380 DBA|XM:NM_001389 |NA:AF023449 |NA:AF023450 |NA:AF217525 |NA:AF289030 |NA:none PAC|XP:NP_001380 SYM|DSCAM NAM|Down syndrome cell adhesion molecule SYN|CHD2-42 |CHD2-52 FNC|Down syndrome cell adhesion molecule |cell adhesion ; GO:0007155 |neurogenesis ; GO:0007399 CHR|21 PRD|human CHD2-52 down syndrome cell adhesion molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=49002 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1826[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6887019 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001389 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001389 DBL|UNIGENE:Hs.49002 |OMIM:602523 |SNP:1826 MAP|21q22.2 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Dscam; score == 3815; expect == 0.0; MEOW:MGgn0003559 (98%) |species == rat; score == 2535; expect == 0.0; MEOW:ref|XP_346414.1| (98%) |species == Human; gene == DSCAML1; score == 2411; expect == 0.0; MEOW:HUgn0057453 (59%) |species == rat; score == 2161; expect == 0.0; MEOW:ref|XP_236203.2| (61%) |species == Mosquito; score == 894; expect == 0.0; MEOW:AGgn0018214 (32%) |species == Mosquito; gene == LOC21379; score == 872; expect == 0.0; MEOW:AGgn0021379 (34%) |species == Fruitfly; gene == CG31190; score == 781; expect == 0.0; MEOW:FBgn0051190 (31%) |species == Fruitfly; gene == CG32387; score == 722; expect == 0.0; MEOW:FBgn0052387 (35%) |species == Mosquito; score == 719; expect == 0.0; MEOW:AGgn0010312 (31%) |species == Zfish; gene == neo1; score == 250; expect == 4.7e-66; MEOW:ZFgn0003852 (24%) |species == Zfish; gene == robo3; score == 226; expect == 4.0e-60; MEOW:ZFgn0000707 (26%) |species == Zfish; gene == robo2; score == 223; expect == 5.1e-58; MEOW:ZFgn0001932 (27%) |species == chimp; score == 206; expect == 1.4e-54; MEOW:sp|BAC81123|BAC81123 (24%) |species == Worm; gene == unc-40; score == 199; expect == 1.2e-50; MEOW:CEgn0002927 (23%) |species == Worm; gene == sax-3; score == 196; expect == 6.1e-50; MEOW:CEgn0002511 (25%) |species == Worm; gene == unc-89; score == 182; expect == 7.7e-45; MEOW:CEgn0002973 (22%) } # EOR GENR { RETE|ID 1 HUgn0001827 CHR 1 21 DID 1 LocusLink:1827 MAP 1 21q22.1-q22.2 NAM 1 Down syndrome critical region gene 1 ORG 1 Homo sapiens SYM 1 DSCR1 ID|HUgn0001827 DID|LocusLink:1827 ORG|Homo sapiens RSQ|REFSEQ:NM_004414 RPA|REFPROT:NP_004405 DBA|XM:NM_004414 |NA:AK055845 |NA:AK092184 |NA:AY325903 |NA:BC002864 |NA:BT007363 |NA:U28833 |NA:U85265 |NA:U85266 |NA:U85267 |NA:none PAC|XP:NP_004405 SYM|DSCR1 NAM|Down syndrome critical region gene 1 SYN|CSP1 |MCIP1 |ADAPT78 FNC|Down syndrome critical region protein 1 |central nervous system development ; GO:0007417 |circulation ; GO:0008015 |signal transduction ; GO:0007165 |calcium-mediated signaling ; GO:0019722 CHR|21 PRD|calcipressin 1 |near DSCR proline-rich protein |Down syndrome candidate region 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282326 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1827[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:731000 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004414 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004414 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=282326 |http://www.geneclinics.org/query?mim=602917 DBL|UNIGENE:Hs.282326 |OMIM:602917 |SNP:1827 MAP|21q22.1-q22.2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 324; expect == 1.7e-89; MEOW:ref|NP_714946.1| (90%) |species == Mouse; gene == Dscr1; score == 323; expect == 3.7e-89; MEOW:MGgn0014650 (89%) |species == Human; gene == DSCR1L1; score == 215; expect == 1.0e-56; MEOW:HUgn0010231 (62%) |species == Human; gene == DSCR1L2; score == 214; expect == 1.8e-56; MEOW:HUgn0011123 (61%) |species == Fruitfly; gene == sra; score == 145; expect == 3.3e-35; MEOW:FBgn0020250 (40%) } # EOR GENR { RETE|ID 1 HUgn0001828 CHR 1 18 DID 1 LocusLink:1828 MAP 1 18q12.1 NAM 1 desmoglein 1 ORG 1 Homo sapiens SYM 1 DSG1 ID|HUgn0001828 DID|LocusLink:1828 ORG|Homo sapiens RSQ|REFSEQ:NM_001942 RPA|REFPROT:NP_001933 DBA|XM:NM_001942 |NA:AJ001716 |NA:AF088042 |NA:AF097935 |NA:X56654 |NA:none PAC|XP:NP_001933 SYM|DSG1 NAM|desmoglein 1 SYN|DG1 |DSG |CDHF4 FNC|desmoglein 1 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|Desmosomes are cell-cell junctions between epithelial, myocardial and certain other |cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component |of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily |members have been identified and all are members of the cadherin cell adhesion molecule |superfamily. These desmoglein gene family members are located in a cluster on chromosome |18. The protein encoded by this gene has been identified as the autoantigen of the |autoimmune skin blistering disease pemphigus foliaceus. CHR|18 PRD|desmosomal glycoprotein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2633 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1828[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126563 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001942 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001942 |http://www.geneclinics.org/query?mim=125670 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27501 DBL|UNIGENE:Hs.2633 |OMIM:125670 |SNP:1828 |UWCM:126563.html MAP|18q12.1 PHP|Keratosis palmoplantaris striata I ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dsg1b; score == 1531; expect == 0.0; MEOW:MGgn0043664 (76%) |species == Mouse; gene == Dsg1c; score == 1390; expect == 0.0; MEOW:MGgn0043665 (77%) |species == rat; score == 1151; expect == 0.0; MEOW:ref|XP_214616.2| (75%) |species == Human; gene == DSG4; score == 605; expect == 5e-173; MEOW:HUgn0147409 (57%) |species == Human; gene == DSG3; score == 540; expect == 2e-153; MEOW:HUgn0001830 (53%) |species == Zfish; gene == cdh1; score == 215; expect == 6.1e-57; MEOW:ZFgn0002231 (32%) |species == Zfish; gene == cdh2; score == 209; expect == 2.6e-55; MEOW:ZFgn0000469 (30%) } # EOR GENR { RETE|ID 1 HUgn0001829 CHR 1 18 DID 1 LocusLink:1829 MAP 1 18q12.1 NAM 1 desmoglein 2 ORG 1 Homo sapiens SYM 1 DSG2 ID|HUgn0001829 DID|LocusLink:1829 ORG|Homo sapiens RSQ|REFSEQ:NM_001943 RPA|REFPROT:NP_001934 DBA|XM:NM_001943 |NA:Z26317 |NA:none PAC|XP:NP_001934 SYM|DSG2 NAM|desmoglein 2 SYN|HDGC |CDHF5 FNC|desmoglein 2 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other |cell types. Desmoglein 2 is a calcium-binding transmembrane glycoprotein component |of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily |members have been identified and all are members of the cadherin cell adhesion molecule |superfamily. These desmoglein gene family members are located in a cluster on chromosome |18. This second family member is expressed in colon, colon carcinoma, and other |simple and stratified epithelial-derived cell lines. CHR|18 PRD|HDGC, included URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=412597 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1829[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128808 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001943 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001943 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27502 DBL|UNIGENE:Hs.412597 |OMIM:125671 |SNP:1829 MAP|18q12.1 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dsg2; score == 1577; expect == 0.0; MEOW:MGgn0003562 (76%) |species == rat; score == 1406; expect == 0.0; MEOW:ref|XP_226112.2| (72%) |species == Human; gene == DSG4; score == 575; expect == 5e-164; MEOW:HUgn0147409 (37%) |species == Human; gene == DSG3; score == 555; expect == 7e-158; MEOW:HUgn0001830 (38%) |species == Human; gene == DSG1; score == 481; expect == 7e-136; MEOW:HUgn0001828 (35%) |species == Zfish; gene == cdh2; score == 315; expect == 4.6e-87; MEOW:ZFgn0000469 (33%) |species == Mosquito; gene == LOC10132; score == 137; expect == 1.5e-32; MEOW:AGgn0010132 (27%) |species == Mosquito; score == 133; expect == 2.8e-31; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10175; score == 133; expect == 2.8e-31; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 133; expect == 2.8e-31; MEOW:AGgn0010219 (28%) } # EOR GENR { RETE|ID 1 HUgn0001830 CHR 1 18 DID 1 LocusLink:1830 MAP 1 18q12.1-q12.2 NAM 1 desmoglein 3 (pemphigus vulgaris antigen) ORG 1 Homo sapiens SYM 1 DSG3 ID|HUgn0001830 DID|LocusLink:1830 ORG|Homo sapiens RSQ|REFSEQ:NM_001944 RPA|REFPROT:NP_001935 DBA|XM:NM_001944 |NA:U52195 |NA:Y08432 |NA:M76482 |NA:none PAC|XP:NP_001935 SYM|DSG3 NAM|desmoglein 3 (pemphigus vulgaris antigen) SYN|PVA |CDHF6 FNC|desmoglein 3 preproprotein |homophilic cell adhesion ; GO:0007156 |cell adhesion ; GO:0007155 REAB|Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other |cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component |of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily |members have been identified and all are members of the cadherin cell adhesion molecule |superfamily. These desmoglein gene family members are located in a cluster on chromosome |18. This protein has been identified as the autoantigen of the autoimmune skin blistering |disease pemphigus vulgaris. CHR|18 PRD|pemphigus vulgaris antigen |130-kD pemphigus vulgaris antigen URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1925 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1830[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134030 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001944 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001944 DBL|UNIGENE:Hs.1925 |OMIM:169615 |SNP:1830 MAP|18q12.1-q12.2 ENZ|calcium-dependent cell adhesion molecule activity ; GO:0008014 |calcium ion binding ; GO:0005509 CEL|cytoskeleton ; GO:0005856 |intercellular junction ; GO:0005911 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Dsg3; score == 1324; expect == 0.0; MEOW:MGgn0003563 (71%) |species == Human; gene == DSG4; score == 899; expect == 0.0; MEOW:HUgn0147409 (49%) |species == rat; score == 545; expect == 3e-155; MEOW:ref|XP_226113.2| (84%) |species == rat; score == 536; expect == 4e-152; MEOW:ref|XP_226112.2| (40%) |species == rat; score == 509; expect == 4e-144; MEOW:ref|XP_214616.2| (52%) |species == rat; score == 478; expect == 1e-134; MEOW:ref|XP_226115.2| (36%) |species == Zfish; gene == cdh2; score == 283; expect == 2.3e-77; MEOW:ZFgn0000469 (31%) |species == Zfish; gene == cdh1; score == 241; expect == 7.5e-65; MEOW:ZFgn0002231 (30%) |species == Mosquito; gene == LOC10132; score == 154; expect == 1.8e-37; MEOW:AGgn0010132 (28%) |species == Mosquito; score == 153; expect == 3.0e-37; MEOW:AGgn0001731 (28%) |species == Mosquito; gene == LOC10175; score == 153; expect == 3.0e-37; MEOW:AGgn0010175 (28%) |species == Mosquito; score == 153; expect == 3.0e-37; MEOW:AGgn0010219 (28%) |species == Fruitfly; gene == CadN; score == 149; expect == 4.6e-36; MEOW:FBgn0015609 (28%) } # EOR GENR { RETE|ID 1 HUgn0001831 CHR 1 X DID 1 LocusLink:1831 MAP 1 Xq22.3 NAM 1 delta sleep inducing peptide, immunoreactor ORG 1 Homo sapiens SYM 1 DSIPI ID|HUgn0001831 DID|LocusLink:1831 ORG|Homo sapiens RSQ|REFSEQ:NM_004089 |REFSEQ:NM_198057 RPA|REFPROT:NP_004080 |REFPROT:NP_932174 DBA|XM:NM_004089 |NA:AB025432 |NA:AF153603 |NA:AF183393 |NA:AF228339 |NA:AK092645 |NA:AK092669 |NA:AK127938 |NA:AL110191 |NA:AY007119 |NA:BC018148 |NA:BM047061 |NA:BX647854 |NA:Z50781 |NA:none PAC|XP:NP_004080 SYM|DSIPI NAM|delta sleep inducing peptide, immunoreactor SYN|DIP |GILZ |TSC-22R FNC|delta sleep inducing peptide, immunoreactor isoform 1 |delta sleep inducing peptide, immunoreactor isoform 2 REAB|The protein encoded by this gene shares significant sequence identity with the murine |TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function |as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids |and interleukin 10, and it appears to play a key role in the anti-inflammatory and |immunosuppressive effects of this steroid and chemokine. Transcript variants encoding |different isoforms have been identified for this gene. CHR|X PRD|TSC-22 related protein |DSIP-immunoreactive leucine zipper protein |glucocorticoid-induced leucine zipper protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=420569 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1831[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6277700 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198057 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198057 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=420569 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27504 DBL|UNIGENE:Hs.420569 |OMIM:602960 |SNP:1831 MAP|Xq22.3 HG|species == rat; score == 144; expect == 7.8e-36; MEOW:ref|NP_112635.1| (93%) |species == Mouse; gene == Gilz; score == 137; expect == 4.8e-34; MEOW:MGgn0004735 (88%) } # EOR GENR { RETE|ID 1 HUgn0001832 CHR 1 6 DID 1 LocusLink:1832 MAP 1 6p24 NAM 1 desmoplakin ORG 1 Homo sapiens SYM 1 DSP ID|HUgn0001832 DID|LocusLink:1832 ORG|Homo sapiens RSQ|REFSEQ:NM_004415 RPA|REFPROT:NP_004406 DBA|XM:NM_004415 |NA:AK130229 |NA:J05211 |NA:M77830 |NA:none PAC|XP:NP_004406 SYM|DSP NAM|desmoplakin SYN|DPI |DPII |KPPS2 |PPKS2 FNC|desmoplakin |epidermal differentiation ; GO:0008544 CHR|6 PRD|desmoplakin (DPI, DPII) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=349499 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1832[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126564 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004415 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004415 |http://www.geneclinics.org/query?mim=125647 DBL|UNIGENE:Hs.349499 |OMIM:125647 |SNP:1832 MAP|6p24 PHP|Arrhythmogenic right ventricular dysplasia 8 |Dilated cardiomyopathy with woolly hair and keratoderma |Keratosis palmoplantaris striata II |Skin fragility-woolly hair syndrome ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|intermediate filament ; GO:0005882 |cell-cell adherens junction ; GO:0005913 |cytoskeleton ; GO:0005856 HG|species == rat; score == 4754; expect == 0.0; MEOW:ref|XP_225259.2| (94%) |species == Human; gene == PLEC1; score == 840; expect == 0.0; MEOW:HUgn0005339 (54%) |species == Human; gene == BPAG1; score == 803; expect == 0.0; MEOW:HUgn0000667 (25%) |species == Mouse; gene == Dst; score == 781; expect == 0.0; MEOW:MGgn0003571 (26%) |species == Mouse; gene == 5730453H04Rik; score == 733; expect == 0.0; MEOW:MGgn0029064 (95%) |species == Fruitfly; gene == shot; score == 165; expect == 2.4e-40; MEOW:FBgn0013733 (28%) |species == Mosquito; score == 163; expect == 6.7e-40; MEOW:AGgn0011363 (26%) |species == Fruitfly; gene == zip; score == 145; expect == 2.0e-34; MEOW:FBgn0005634 (19%) |species == Mosquito; score == 138; expect == 3.0e-32; MEOW:AGgn0009410 (21%) |species == Worm; gene == T10G3.5; score == 136; expect == 1.8e-31; MEOW:CEgn0016010 (19%) |species == Yeast; gene == USO1; score == 134; expect == 2.8e-31; MEOW:SGgn0002216 (20%) } # EOR GENR { RETE|ID 1 HUgn0001833 CHR 1 12 DID 1 LocusLink:1833 MAP 1 12q21 NAM 1 dermatan sulfate proteoglycan 3 ORG 1 Homo sapiens SYM 1 DSPG3 ID|HUgn0001833 DID|LocusLink:1833 ORG|Homo sapiens RSQ|REFSEQ:NM_004950 RPA|REFPROT:NP_004941 DBA|XM:NM_004950 |NA:AF031658 |NA:BC030958 |NA:U59111 |NA:none PAC|XP:NP_004941 SYM|DSPG3 NAM|dermatan sulfate proteoglycan 3 SYN|SLRR3B FNC|dermatan sulfate proteoglycan 3 |pregnancy ; GO:0007565 REAB|Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan |family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting |with collagen fibrils and other extracellular matrix proteins. CHR|12 PRD|Pg-Lb |dermatan sulphate proteoglycan 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435680 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1833[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1297552 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004950 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004950 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435680 DBL|UNIGENE:Hs.435680 |OMIM:601657 |SNP:1833 MAP|12q21 ENZ|glycosaminoglycan binding ; GO:0005539 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 542; expect == 2e-154; MEOW:ref|XP_235083.1| (81%) |species == Mouse; gene == Dspg3; score == 540; expect == 4e-154; MEOW:MGgn0003567 (81%) |species == Human; gene == OPTC; score == 239; expect == 1.5e-63; MEOW:HUgn0026254 (54%) |species == Human; gene == OGN; score == 225; expect == 2.9e-59; MEOW:HUgn0004969 (48%) } # EOR GENR { RETE|ID 1 HUgn0001834 CHR 1 4 DID 1 LocusLink:1834 MAP 1 4q21.3 NAM 1 dentin sialophosphoprotein ORG 1 Homo sapiens SYM 1 DSPP ID|HUgn0001834 DID|LocusLink:1834 ORG|Homo sapiens RSQ|REFSEQ:NM_014208 RPA|REFPROT:NP_055023 DBA|XM:NM_014208 |NA:AF163151 |NA:AF094508 |NA:none PAC|XP:NP_055023 SYM|DSPP NAM|dentin sialophosphoprotein SYN|DPP |DSP |DGI1 |DFNA39 FNC|dentin sialophosphoprotein preproprotein |hearing ; GO:0007605 |ossification ; GO:0001503 REAB|This gene encodes two principal proteins of the dentin extracellular matrix of the |tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein |and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the |biomineralization process of dentin. Mutations in this gene have been associated |with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta |occurs in combination with an autosomal dominant form of deafness. CHR|4 PRD|dentin phosphoryn |dentin sialoprotein |dentin phosphophoryn |dentin phosphoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447902 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1834[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5560457 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014208 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014208 DBL|UNIGENE:Hs.447902 |OMIM:125485 |SNP:1834 |UWCM:5560457.html MAP|4q21.3 PHP|Dentinogenesis imperfecta-1 |Dentinogenesis imperfecta-1 with deafness CEL|extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Dspp; score == 308; expect == 7.1e-84; MEOW:MGgn0003568 (46%) |species == rat; score == 307; expect == 2.2e-83; MEOW:ref|NP_036922.2| (42%) |species == Mosquito; gene == LOC13990; score == 212; expect == 2.4e-54; MEOW:AGgn0013990 (21%) |species == Worm; gene == Y113G7B.12; score == 154; expect == 3.3e-37; MEOW:CEgn0020357 (29%) |species == Worm; gene == F59B2.12; score == 145; expect == 1.3e-34; MEOW:CEgn0012499 (20%) |species == Human; gene == FLG; score == 138; expect == 1.1e-31; MEOW:HUgn0002312 (23%) } # EOR GENR { RETE|ID 1 HUgn0001835 CHR 1 X DID 1 LocusLink:1835 MAP 1 Xp21.3 NAM 1 dosage-sensitive sex reversal ORG 1 Homo sapiens SYM 1 DSS ID|HUgn0001835 DID|LocusLink:1835 ORG|Homo sapiens SYM|DSS NAM|dosage-sensitive sex reversal CHR|X DBL|OMIM:300018 MAP|Xp21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433750 |http://www.geneclinics.org/query?mim=300018 } # EOR GENR { RETE|ID 1 HUgn0001836 CHR 1 5 DID 1 LocusLink:1836 MAP 1 5q31-q34 NAM 1 solute carrier family 26 (sulfate transporter), member 2 ORG 1 Homo sapiens SYM 1 SLC26A2 ID|HUgn0001836 DID|LocusLink:1836 ORG|Homo sapiens RSQ|REFSEQ:NM_000112 RPA|REFPROT:NP_000103 DBA|XM:NM_000112 |NA:BC059390 |NA:U14528 |NA:none PAC|XP:NP_000103 SYM|SLC26A2 NAM|solute carrier family 26 (sulfate transporter), member 2 SYN|DTD |EDM4 |DTDST |D5S1708 FNC|sulfate anion transporter 1 |sulfate transport ; GO:0008272 |transport ; GO:0006810 REAB|The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated |in the pathogenesis of several human chondrodysplasias. It apparently is critical |in cartilage for sulfation of proteoglycans and matrix organization. CHR|5 PRD|Diastrophic dysplasia sulfate transporter URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=29981 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1836[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125421 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000112 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000112 |http://www.geneclinics.org/query?mim=222600 |http://www.geneclinics.org/query?mim=606718 |http://www.ncbi.nlm.nih.gov/disease/DTD.html DBL|UNIGENE:Hs.29981 |OMIM:606718 |SNP:1836 MAP|5q31-q34 PHP|Achondrogenesis Ib |Atelosteogenesis II |Diastrophic dysplasia |Diastrophic dysplasia, broad bone-platyspondylic variant |Epiphyseal dysplasia, multiple CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 ENZ|sulfate porter activity ; GO:0008271 HG|species == rat; score == 1113; expect == 0.0; MEOW:ref|NP_476468.1| (81%) |species == Mouse; gene == Slc26a2; score == 1112; expect == 0.0; MEOW:MGgn0003574 (80%) |species == Human; gene == SLC26A1; score == 570; expect == 7e-163; MEOW:HUgn0010861 (48%) |species == Worm; gene == K12G11.2; score == 342; expect == 4.2e-94; MEOW:CEgn0013881 (35%) |species == Mosquito; score == 340; expect == 1.9e-93; MEOW:AGgn0028863 (33%) |species == Worm; gene == K12G11.1; score == 298; expect == 5.8e-81; MEOW:CEgn0013880 (33%) |species == Worm; gene == ZK287.2; score == 293; expect == 2.5e-79; MEOW:CEgn0020881 (31%) |species == Fruitfly; gene == Prestin; score == 293; expect == 2.4e-79; MEOW:FBgn0036770 (29%) |species == Worm; gene == F14D12.5; score == 283; expect == 2.1e-76; MEOW:CEgn0008432 (29%) |species == Mosquito; gene == LOC18533; score == 282; expect == 4.1e-76; MEOW:AGgn0018533 (34%) |species == rice; score == 225; expect == 5.4e-59; MEOW:gnl|TIGR|8360.m00547 (25%) |species == Weed; gene == At3g15990; score == 222; expect == 4.5e-58; MEOW:ATgn0014182 (26%) |species == rice; score == 218; expect == 8.6e-57; MEOW:gnl|TIGR|8360.m00837 (26%) |species == Weed; gene == At1g23090; score == 216; expect == 2.4e-56; MEOW:ATgn0005751 (25%) |species == rice; score == 214; expect == 1.6e-55; MEOW:gnl|TIGR|8356.m03007 (26%) |species == Weed; gene == At4g08620; score == 202; expect == 6.3e-52; MEOW:ATgn0019141 (26%) |species == Weed; gene == At1g77990; score == 198; expect == 7.0e-51; MEOW:ATgn0004024 (25%) |species == Weed; gene == At5g10180; score == 197; expect == 1.6e-50; MEOW:ATgn0022858 (26%) |species == rice; score == 196; expect == 3.5e-50; MEOW:gnl|TIGR|8354.m00418 (24%) |species == rice; score == 194; expect == 1.8e-49; MEOW:gnl|TIGR|8350.m04833 (24%) |species == rice; score == 192; expect == 6.5e-49; MEOW:gnl|TIGR|8360.m00838 (25%) |species == Weed; gene == At3g12520; score == 191; expect == 1.2e-48; MEOW:ATgn0016715 (24%) |species == Weed; gene == At5g19600; score == 186; expect == 4.5e-47; MEOW:ATgn0025049 (25%) |species == rice; score == 186; expect == 2.8e-47; MEOW:gnl|TIGR|8350.m03765 (24%) |species == Weed; gene == At4g02700; score == 185; expect == 7.9e-47; MEOW:ATgn0018715 (24%) |species == Yeast; gene == SUL1; score == 173; expect == 3.3e-43; MEOW:SGgn0000498 (23%) |species == Yeast; gene == SUL2; score == 163; expect == 4.6e-40; MEOW:SGgn0004082 (23%) } # EOR GENR { RETE|ID 1 HUgn0001837 CHR 1 18 DID 1 LocusLink:1837 MAP 1 18q12 NAM 1 dystrobrevin, alpha ORG 1 Homo sapiens SYM 1 DTNA ID|HUgn0001837 DID|LocusLink:1837 ORG|Homo sapiens RSQ|REFSEQ:NM_001390 |REFSEQ:NM_001391 |REFSEQ:NM_001392 |REFSEQ:NM_032975 |REFSEQ:NM_032978 |REFSEQ:NM_032979 |REFSEQ:NM_032980 |REFSEQ:NM_032981 RPA|REFPROT:NP_001381 |REFPROT:NP_001382 |REFPROT:NP_001383 |REFPROT:NP_116757 |REFPROT:NP_116760 |REFPROT:NP_116761 |REFPROT:NP_116762 |REFPROT:NP_116763 DBA|XM:NM_001390 |XM:NM_001391 |XM:NM_001392 |XM:NM_032975 |XM:NM_032978 |XM:NM_032979 |XM:NM_032980 |XM:NM_032981 |NA:U84540 |NA:U84547 |NA:U84551 |NA:AJ009668 |NA:AL833285 |NA:BC005300 |NA:BC033969 |NA:BC047095 |NA:BG250424 |NA:BG705393 |NA:BT006937 |NA:U26742 |NA:U26743 |NA:U26744 |NA:U46744 |NA:U46745 |NA:U46746 |NA:none PAC|XP:NP_001381 |XP:NP_001382 |XP:NP_001383 |XP:NP_116757 |XP:NP_116760 |XP:NP_116761 |XP:NP_116762 |XP:NP_116763 SYM|DTNA NAM|dystrobrevin, alpha SYN|DTN |DRP3 |DTN-1 |DTN-2 |DTN-3 |D18S892E FNC|dystrobrevin, alpha isoform 1 |dystrobrevin, alpha isoform 2 |dystrobrevin, alpha isoform 3 |dystrobrevin, alpha isoform 4 |dystrobrevin, alpha isoform 5 |dystrobrevin, alpha isoform 6 |dystrobrevin, alpha isoform 7 |dystrobrevin, alpha isoform 8 |striated muscle contraction ; GO:0006941 |neuromuscular synaptic transmission ; GO:0007274 |cell growth and/or maintenance ; GO:0008151 |signal transduction ; GO:0007165 REAB|This gene encodes dystrobrevin alpha, a component of the dystrophin-associated protein |complex (DPC). The DPC consists of dystrophin and several integral and peripheral |membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin |alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated |with various forms of muscular dystrophy. Dystrobrevin alpha binds syntrophin which |recruits signalling proteins such as neuronal nitric oxide synthase. This gene undergoes |extensive alternative splicing; it is thought that this provides a mechanism for |regulating the stoichiometry of syntrophin association with the DPC. Eight transcript |variants have been described which have alternate 5' and 3' UTR sequences. Most |variants also lack internal coding region exons, but the reading frame is maintained. |Two different N-terminal and three different C-terminal protein sequences are encoded |by the splice variants. CHR|18 PRD|dystrophin-related protein 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=255526 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1837[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834186 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001391 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001391 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=255526 |http://www.geneclinics.org/query?mim=601239 |http://www.dmd.nl DBL|UNIGENE:Hs.255526 |OMIM:601239 |SNP:1837 MAP|18q12 PHP|Left ventricular noncompaction with congenital heart defects |Left ventricular noncompaction, familial isolated ENZ|protein binding ; GO:0005515 |zinc ion binding ; GO:0008270 CEL|synaptic junction ; GO:0045202 HG|species == Human; gene == DTNB; score == 883; expect == 0.0; MEOW:HUgn0001838 (69%) |species == Mouse; gene == Dtnb; score == 875; expect == 0.0; MEOW:MGgn0003582 (70%) |species == rat; score == 868; expect == 0.0; MEOW:ref|XP_343034.1| (65%) |species == Mouse; gene == Dtna; score == 746; expect == 0.0; MEOW:MGgn0003581 (98%) |species == Mosquito; gene == LOC14996; score == 485; expect == 3e-137; MEOW:AGgn0014996 (48%) |species == Fruitfly; gene == Dyb; score == 477; expect == 7e-135; MEOW:FBgn0033739 (46%) |species == Worm; gene == dyb-1; score == 425; expect == 4e-119; MEOW:CEgn0000439 (40%) |species == Zfish; gene == dmd; score == 171; expect == 7.0e-44; MEOW:ZFgn0002226 (27%) } # EOR GENR { RETE|ID 1 HUgn0001838 CHR 1 2 DID 1 LocusLink:1838 MAP 1 2p24 NAM 1 dystrobrevin, beta ORG 1 Homo sapiens SYM 1 DTNB ID|HUgn0001838 DID|LocusLink:1838 ORG|Homo sapiens RSQ|REFSEQ:NM_021907 |REFSEQ:NM_033147 |REFSEQ:NM_033148 |REFSEQ:NM_183360 |REFSEQ:NM_183361 RPA|REFPROT:NP_068707 |REFPROT:NP_149159 |REFPROT:NP_149160 |REFPROT:NP_899204 |REFPROT:NP_899205 DBA|XM:NM_021907 |XM:NM_033148 |NA:AF022728 |NA:AF070567 |NA:AK022277 |NA:AK094494 |NA:BC016655 |NA:BC049366 |NA:BT009805 |NA:Y12712 |NA:Y15718 |NA:Y15719 |NA:Y15720 |NA:Y15721 |NA:Y15722 |NA:none PAC|XP:NP_068707 |XP:NP_149160 SYM|DTNB NAM|dystrobrevin, beta SYN|MGC17163 |MGC57126 FNC|dystrobrevin, beta isoform 1 |dystrobrevin, beta isoform 2 |dystrobrevin, beta isoform 3 |dystrobrevin, beta isoform 4 |dystrobrevin, beta isoform 5 REAB|This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein |complex (DPC). The DPC consists of dystrophin and several integral and peripheral |membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin |alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated |with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact |with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript |variants encoding different isoforms have been identified. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406073 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1838[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834193 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021907 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021907 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406073 |http://www.dmd.nl DBL|UNIGENE:Hs.406073 |OMIM:602415 |SNP:1838 MAP|2p24 ENZ|protein binding ; GO:0005515 |zinc ion binding ; GO:0008270 CEL|cytoskeleton ; GO:0005856 HG|species == rat; score == 1124; expect == 0.0; MEOW:ref|XP_343034.1| (90%) |species == Mouse; gene == Dtnb; score == 1119; expect == 0.0; MEOW:MGgn0003582 (95%) |species == Human; gene == DTNA; score == 883; expect == 0.0; MEOW:HUgn0001837 (69%) |species == Mosquito; gene == LOC14996; score == 498; expect == 3e-141; MEOW:AGgn0014996 (52%) |species == Fruitfly; gene == Dyb; score == 491; expect == 4e-139; MEOW:FBgn0033739 (48%) |species == Worm; gene == dyb-1; score == 460; expect == 9e-130; MEOW:CEgn0000439 (42%) |species == Zfish; gene == dmd; score == 169; expect == 8.1e-42; MEOW:ZFgn0002226 (27%) } # EOR GENR { RETE|ID 1 HUgn0001839 CHR 1 5 DID 1 LocusLink:1839 MAP 1 5q23 NAM 1 diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) ORG 1 Homo sapiens SYM 1 DTR ID|HUgn0001839 DID|LocusLink:1839 ORG|Homo sapiens RSQ|REFSEQ:NM_001945 RPA|REFPROT:NP_001936 DBA|XM:NM_001945 |NA:AC004634 |NA:BC033097 |NA:M60278 |NA:none PAC|XP:NP_001936 SYM|DTR NAM|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) SYN|DTS |HBEGF |HEGFL FNC|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) |positive regulation of cell proliferation ; GO:0008284 |pathogenesis ; GO:0009405 |muscle development ; GO:0007517 |regulation of transcription, DNA-dependent ; GO:0006355 |invasive growth ; GO:0007125 |signal transduction ; GO:0007165 CHR|5 PRD|Diphtheria toxin receptor (heparin-binding EGF-like growth factor) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=799 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1839[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119853 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001945 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001945 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=799 DBL|UNIGENE:Hs.799 |OMIM:126150 |SNP:1839 MAP|5q23 PHP|Diphtheria, susceptibility to ENZ|epidermal growth factor receptor binding ; GO:0005154 |heparin binding ; GO:0008201 |growth factor activity ; GO:0008083 |DNA binding ; GO:0003677 |receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 |extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == rat; score == 281; expect == 1.8e-76; MEOW:ref|NP_037077.1| (81%) |species == Mouse; gene == Dtr; score == 277; expect == 2.5e-75; MEOW:MGgn0005353 (80%) } # EOR GENR { RETE|ID 1 HUgn0001840 CHR 1 12 DID 1 LocusLink:1840 MAP 1 12q24.21 NAM 1 deltex homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DTX1 ID|HUgn0001840 DID|LocusLink:1840 ORG|Homo sapiens RSQ|REFSEQ:NM_004416 RPA|REFPROT:NP_004407 DBA|XM:NM_004416 |NA:AF053700 |NA:BC005816 |NA:BC008321 |NA:BC048216 PAC|XP:NP_004407 SYM|DTX1 NAM|deltex homolog 1 (Drosophila) FNC|deltex homolog 1 REAB|Studies in Drosophila have identified this gene as encoding a positive regulator |of the Notch-signaling pathway. The human gene encodes a protein of unknown function; |however, it may play a role in basic helix-loop-helix transcription factor activity. CHR|12 PRD|hDx-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=124024 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1840[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837404 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004416 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004416 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=124024 DBL|UNIGENE:Hs.124024 |OMIM:602582 |SNP:1840 MAP|12q24.21 HG|species == Mouse; gene == Dtx1; score == 857; expect == 0.0; MEOW:MGgn0013377 (93%) |species == Human; gene == KIAA0937; score == 715; expect == 0.0; MEOW:HUgn0023220 (60%) |species == rat; score == 482; expect == 4e-136; MEOW:ref|XP_238163.2| (75%) |species == Fruitfly; gene == dx; score == 182; expect == 3.7e-46; MEOW:FBgn0000524 (42%) |species == Mosquito; score == 173; expect == 1.4e-43; MEOW:AGgn0001941 (37%) } # EOR GENR { RETE|ID 1 HUgn0001841 CHR 1 2 DID 1 LocusLink:1841 MAP 1 2q37.3 NAM 1 deoxythymidylate kinase (thymidylate kinase) ORG 1 Homo sapiens SYM 1 DTYMK ID|HUgn0001841 DID|LocusLink:1841 ORG|Homo sapiens RSQ|REFSEQ:NM_012145 RPA|REFPROT:NP_036277 DBA|XM:NM_012145 |NA:BC001827 |NA:L16991 |NA:X54729 |NA:none PAC|XP:NP_036277 SYM|DTYMK NAM|deoxythymidylate kinase (thymidylate kinase) SYN|CDC8 |TMPK |TYMK FNC|deoxythymidylate kinase (thymidylate kinase) |cell cycle ; GO:0007049 |DNA metabolism ; GO:0006259 |dTDP biosynthesis ; GO:0006233 |dTTP biosynthesis ; GO:0006235 |nucleotide biosynthesis ; GO:0009165 CHR|2 PRD|thymidylate kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=367821 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1841[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127511 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012145 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012145 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=367821 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA150 DBL|UNIGENE:Hs.367821 |OMIM:188345 |SNP:1841 MAP|2q37.3 ENZ|thymidylate kinase activity ; GO:0004798 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 HG|species == rat; score == 330; expect == 4.4e-91; MEOW:ref|XP_217478.1| (77%) |species == Weed; gene == At5g59440; score == 202; expect == 1.1e-52; MEOW:ATgn0025888 (49%) |species == rice; score == 186; expect == 1.7e-47; MEOW:gnl|TIGR|8355.m04262 (47%) |species == Fruitfly; gene == CG5757; score == 183; expect == 3.0e-47; MEOW:FBgn0034299 (44%) |species == Mosquito; gene == LOC15825; score == 176; expect == 1.0e-44; MEOW:AGgn0015825 (44%) |species == Worm; gene == R53.2; score == 158; expect == 1.2e-39; MEOW:CEgn0014973 (39%) |species == Yeast; gene == CDC8; score == 156; expect == 1.2e-38; MEOW:SGgn0003818 (51%) } # EOR GENR { RETE|ID 1 HUgn0001842 CHR 1 9 DID 1 LocusLink:1842 MAP 1 9q22.3 NAM 1 extracellular matrix protein 2, female organ and adipocyte specific ORG 1 Homo sapiens SYM 1 ECM2 ID|HUgn0001842 DID|LocusLink:1842 ORG|Homo sapiens RSQ|REFSEQ:NM_001393 RPA|REFPROT:NP_001384 DBA|XM:NM_001393 |NA:AB011792 |NA:none PAC|XP:NP_001384 SYM|ECM2 NAM|extracellular matrix protein 2, female organ and adipocyte specific FNC|extracellular matrix protein 2 |cell-matrix adhesion ; GO:0007160 REAB|ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix protiens. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=117060 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1842[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836821 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001393 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001393 DBL|UNIGENE:Hs.117060 |OMIM:603479 |SNP:1842 MAP|9q22.3 ENZ|integrin binding ; GO:0005178 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 670; expect == 0.0; MEOW:ref|XP_214443.2| (84%) |species == Human; gene == LOC375835; score == 239; expect == 5.0e-63; MEOW:HUgn0375835 (37%) |species == Mouse; gene == Kera; score == 139; expect == 2.7e-33; MEOW:MGgn0006729 (35%) |species == Mouse; gene == Dcn; score == 137; expect == 1.0e-32; MEOW:MGgn0003215 (34%) |species == Mouse; gene == Podn; score == 133; expect == 2.0e-31; MEOW:MGgn0045647 (30%) } # EOR GENR { RETE|ID 1 HUgn0001843 CHR 1 5 DID 1 LocusLink:1843 MAP 1 5q34 NAM 1 dual specificity phosphatase 1 ORG 1 Homo sapiens SYM 1 DUSP1 ID|HUgn0001843 DID|LocusLink:1843 ORG|Homo sapiens RSQ|REFSEQ:NM_004417 RPA|REFPROT:NP_004408 DBA|XM:NM_004417 |NA:AK127679 |NA:BC022463 |NA:U01669 |NA:X68277 |NA:none PAC|XP:NP_004408 SYM|DUSP1 NAM|dual specificity phosphatase 1 SYN|HVH1 |CL100 |MKP-1 |PTPN10 FNC|dual specificity phosphatase 1 |cell cycle ; GO:0007049 |response to oxidative stress ; GO:0006979 |protein amino acid dephosphorylation ; GO:0006470 REAB|The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat |stress and growth factors. It specifies a protein with structural features similar |to members of the non-receptor-type protein-tyrosine phosphatase family, and which |has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase |encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified |DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated |protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine |and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP |kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an |important role in the human cellular response to environmental stress as well as |in the negative regulation of cellular proliferation. CHR|5 PRD|serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171695 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1843[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136197 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004417 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004417 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171695 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.171695 |OMIM:600714 |SNP:1843 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |non-membrane spanning protein tyrosine phosphatase activity ; GO:0004726 |hydrolase activity ; GO:0016787 |MAP kinase phosphatase activity ; GO:0017017 MAP|5q34 HG|species == Mouse; gene == Dusp1; score == 705; expect == 0.0; MEOW:MGgn0009587 (96%) |species == rat; score == 702; expect == 0.0; MEOW:ref|NP_446221.1| (96%) |species == Human; gene == DUSP4; score == 455; expect == 2e-128; MEOW:HUgn0001846 (65%) |species == Mouse; gene == Dusp4; score == 446; expect == 8e-126; MEOW:MGgn0043676 (65%) |species == rat; score == 446; expect == 1e-125; MEOW:ref|NP_071535.1| (63%) |species == Worm; gene == vhp-1; score == 156; expect == 4.0e-38; MEOW:CEgn0003050 (31%) |species == Fruitfly; gene == Mkp3; score == 147; expect == 4.1e-36; MEOW:FBgn0036844 (32%) |species == Mosquito; score == 141; expect == 2.8e-34; MEOW:AGgn0016464 (32%) } # EOR GENR { RETE|ID 1 HUgn0001844 CHR 1 2 DID 1 LocusLink:1844 MAP 1 2q11 NAM 1 dual specificity phosphatase 2 ORG 1 Homo sapiens SYM 1 DUSP2 ID|HUgn0001844 DID|LocusLink:1844 ORG|Homo sapiens RSQ|REFSEQ:NM_004418 RPA|REFPROT:NP_004409 DBA|XM:NM_004418 |NA:U23853 |NA:AF331843 |NA:BC007771 |NA:L11329 PAC|XP:NP_004409 SYM|DUSP2 NAM|dual specificity phosphatase 2 SYN|PAC1 |PAC-1 FNC|dual specificity phosphatase 2 |inactivation of MAPK ; GO:0000188 |protein amino acid dephosphorylation ; GO:0006470 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively |regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, |SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. | Different members of the family of dual specificity phosphatases show distinct |substrate specificities for various MAP kinases, different tissue distribution and |subcellular localization, and different modes of inducibility of their expression |by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly |expressed in hematopoietic tissues, and is localized in the nucleus. CHR|2 PRD|Dual-specificity phosphatase 2 |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1183 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1844[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139200 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004418 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004418 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1183 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.1183 |OMIM:603068 |SNP:1844 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |protein tyrosine/threonine phosphatase activity ; GO:0008330 |protein tyrosine phosphatase activity ; GO:0004725 MAP|2q11 CEL|nucleus ; GO:0005634 HG|species == rat; score == 507; expect == 3e-144; MEOW:ref|XP_230575.2| (88%) |species == Mouse; gene == Dusp1; score == 308; expect == 4.0e-84; MEOW:MGgn0009587 (53%) |species == Human; gene == DUSP1; score == 299; expect == 1.4e-81; MEOW:HUgn0001843 (53%) |species == Human; gene == DUSP4; score == 282; expect == 3.4e-76; MEOW:HUgn0001846 (48%) |species == Mouse; gene == Dusp4; score == 278; expect == 3.8e-75; MEOW:MGgn0043676 (52%) |species == Human; gene == DUSP5; score == 243; expect == 9.9e-65; MEOW:HUgn0001847 (48%) } # EOR GENR { RETE|ID 1 HUgn0001845 CHR 1 17 DID 1 LocusLink:1845 MAP 1 17q21 NAM 1 dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) ORG 1 Homo sapiens SYM 1 DUSP3 ID|HUgn0001845 DID|LocusLink:1845 ORG|Homo sapiens RSQ|REFSEQ:NM_004090 RPA|REFPROT:NP_004081 DBA|XM:NM_004090 |NA:AK055834 |NA:AK129822 |NA:AL049417 |NA:BC002682 |NA:BC008286 |NA:BC035701 |NA:BU177084 |NA:L05147 |NA:none PAC|XP:NP_004081 SYM|DUSP3 NAM|dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) SYN|VHR FNC|dual specificity phosphatase 3 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate |members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, |p38), which are associated with cellular proliferation and differentiation. Different |members of the family of dual specificity phosphatases show distinct substrate specificities |for various MAP kinases, different tissue distribution and subcellular localization, |and different modes of inducibility of their expression by extracellular stimuli. |This gene maps in a region that contains the BRCA1 locus which confers susceptibility |to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian |tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was |negative, leading to the conclusion that this gene is not BRCA1. CHR|17 PRD|vaccinia virus phosphatase VH1-related |serine/threonine specific protein phosphatase DBL|OMIM:600183 |SNP:1845 ENZ|EC:3.1.3.16 |EC:3.1.3.48 MAP|17q21 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1845[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:342110 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004090 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004090 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 HG|species == Mouse; gene == Dusp3; score == 347; expect == 1.4e-96; MEOW:MGgn0019246 (93%) |species == rat; score == 346; expect == 2.5e-95; MEOW:ref|XP_340912.1| (92%) |species == Zfish; gene == dusp3; score == 214; expect == 1.3e-57; MEOW:ZFgn0013622 (60%) |species == Mosquito; gene == LOC21958; score == 132; expect == 1.3e-31; MEOW:AGgn0021958 (44%) |species == Human; gene == DUSP13; score == 131; expect == 2.4e-31; MEOW:HUgn0051207 (47%) |species == Fruitfly; gene == CG7378; score == 129; expect == 4.1e-31; MEOW:FBgn0030976 (45%) } # EOR GENR { RETE|ID 1 HUgn0001846 CHR 1 8 DID 1 LocusLink:1846 MAP 1 8p12-p11 NAM 1 dual specificity phosphatase 4 ORG 1 Homo sapiens SYM 1 DUSP4 ID|HUgn0001846 DID|LocusLink:1846 ORG|Homo sapiens RSQ|REFSEQ:NM_001394 |REFSEQ:NM_057158 RPA|REFPROT:NP_001385 |REFPROT:NP_476499 DBA|XM:NM_001394 |XM:NM_057158 |NA:AL137704 |NA:BC002671 |NA:BC014565 |NA:S80632 |NA:U21108 |NA:U48807 PAC|XP:NP_001385 |XP:NP_476499 SYM|DUSP4 NAM|dual specificity phosphatase 4 SYN|TYP |HVH2 |MKP2 |MKP-2 FNC|dual specificity phosphatase 4 isoform 1 |dual specificity phosphatase 4 isoform 2 |MAPKKK cascade ; GO:0000165 |regulation of cell cycle ; GO:0000074 |protein amino acid dephosphorylation ; GO:0006470 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate |members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, |p38), which are associated with cellular proliferation and differentiation. Different |members of the family of dual specificity phosphatases show distinct substrate specificities |for various MAP kinases, different tissue distribution and subcellular localization, |and different modes of inducibility of their expression by extracellular stimuli. |This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, |and is localized in the nucleus. Two alternatively spliced transcript variants, |encoding distinct isoforms, have been observed for this gene. In addition, multiple |polyadenylation sites have been reported. CHR|8 PRD|MAP kinase phosphatase 2 |VH1 homologous phosphatase 2 |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=417962 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1846[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433893 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_057158 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_057158 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=417962 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.417962 |OMIM:602747 |SNP:1846 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |protein tyrosine/threonine phosphatase activity ; GO:0008330 MAP|8p12-p11 CEL|nucleus ; GO:0005634 HG|species == rat; score == 725; expect == 0.0; MEOW:ref|NP_071535.1| (94%) |species == Mouse; gene == Dusp4; score == 723; expect == 0.0; MEOW:MGgn0043676 (93%) |species == Human; gene == DUSP1; score == 455; expect == 2e-128; MEOW:HUgn0001843 (65%) |species == Worm; gene == vhp-1; score == 146; expect == 2.0e-35; MEOW:CEgn0003050 (29%) |species == Mosquito; score == 131; expect == 5.4e-31; MEOW:AGgn0016464 (31%) } # EOR GENR { RETE|ID 1 HUgn0001847 CHR 1 10 DID 1 LocusLink:1847 MAP 1 10q25 NAM 1 dual specificity phosphatase 5 ORG 1 Homo sapiens SYM 1 DUSP5 ID|HUgn0001847 DID|LocusLink:1847 ORG|Homo sapiens RSQ|REFSEQ:NM_004419 RPA|REFPROT:NP_004410 DBA|XM:NM_004419 |NA:U15932 |NA:U16996 |NA:none PAC|XP:NP_004410 SYM|DUSP5 NAM|dual specificity phosphatase 5 SYN|HVH3 FNC|dual specificity phosphatase 5 |protein amino acid dephosphorylation ; GO:0006470 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively |regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, |SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. | Different members of the family of dual specificity phosphatases show distinct |substrate specificities for various MAP kinases, different tissue distribution and |subcellular localization, and different modes of inducibility of their expression |by extracellular stimuli. This gene product inactivates ERK1, is expressed in a |variety of tissues with the highest levels in pancreas and brain, and is localized |in the nucleus. CHR|10 PRD|VH1-like phosphatase 3 |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2128 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1847[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:385447 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004419 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004419 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.2128 |OMIM:603069 |SNP:1847 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 |MAP kinase phosphatase activity ; GO:0017017 MAP|10q25 CEL|nucleus ; GO:0005634 HG|species == rat; score == 713; expect == 0.0; MEOW:ref|XP_346589.1| (93%) |species == Human; gene == DUSP1; score == 290; expect == 8.7e-79; MEOW:HUgn0001843 (45%) |species == Mouse; gene == Dusp1; score == 289; expect == 1.5e-78; MEOW:MGgn0009587 (44%) |species == Human; gene == DUSP4; score == 285; expect == 3.1e-77; MEOW:HUgn0001846 (46%) |species == Mouse; gene == Dusp4; score == 282; expect == 2.6e-76; MEOW:MGgn0043676 (47%) |species == Human; gene == DUSP2; score == 243; expect == 9.9e-65; MEOW:HUgn0001844 (48%) } # EOR GENR { RETE|ID 1 HUgn0001848 CHR 1 12 DID 1 LocusLink:1848 MAP 1 12q22-q23 NAM 1 dual specificity phosphatase 6 ORG 1 Homo sapiens SYM 1 DUSP6 ID|HUgn0001848 DID|LocusLink:1848 ORG|Homo sapiens RSQ|REFSEQ:NM_001946 |REFSEQ:NM_022652 RPA|REFPROT:NP_001937 |REFPROT:NP_073143 DBA|XM:NM_001946 |XM:NM_022652 |NA:AB013601 |NA:AB013382 |NA:AB013602 |NA:AK091753 |NA:BC003143 |NA:BC003562 |NA:BC005047 |NA:BC037236 |NA:BT006895 |NA:X93920 |NA:none PAC|XP:NP_001937 |XP:NP_073143 SYM|DUSP6 NAM|dual specificity phosphatase 6 SYN|MKP3 |MKP-3 |PYST1 FNC|dual specificity phosphatase 6 isoform a |dual specificity phosphatase 6 isoform b |inactivation of MAPK ; GO:0000188 |apoptosis ; GO:0006915 |regulation of cell cycle ; GO:0000074 |protein amino acid dephosphorylation ; GO:0006470 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively |regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, |SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. | Different members of the family of dual specificity phosphatases show distinct |substrate specificities for various MAP kinases, different tissue distribution and |subcellular localization, and different modes of inducibility of their expression |by extracellular stimuli. This gene product inactivates ERK2, is expressed in a |variety of tissues with the highest levels in heart and pancreas, and unlike most |other members of this family, is localized in the cytoplasm. CHR|12 PRD|MAP kinase phosphatase 3 |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=298654 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1848[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5903577 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001946 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001946 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=298654 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27529 DBL|UNIGENE:Hs.298654 |OMIM:602748 |SNP:1848 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |protein serine/threonine phosphatase activity ; GO:0004722 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 |MAP kinase phosphatase activity ; GO:0017017 MAP|12q22-q23 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 654; expect == 0.0; MEOW:ref|NP_446335.1| (98%) |species == Mouse; gene == Dusp6; score == 651; expect == 0.0; MEOW:MGgn0016720 (97%) |species == Human; gene == DUSP7; score == 518; expect == 3e-147; MEOW:HUgn0001849 (71%) |species == Mosquito; score == 237; expect == 9.8e-63; MEOW:AGgn0016464 (41%) |species == Fruitfly; gene == Mkp3; score == 226; expect == 1.4e-59; MEOW:FBgn0036844 (39%) |species == Worm; gene == lip-1; score == 164; expect == 7.2e-41; MEOW:CEgn0004039 (33%) } # EOR GENR { RETE|ID 1 HUgn0001849 CHR 1 3 DID 1 LocusLink:1849 MAP 1 3p21 NAM 1 dual specificity phosphatase 7 ORG 1 Homo sapiens SYM 1 DUSP7 ID|HUgn0001849 DID|LocusLink:1849 ORG|Homo sapiens RSQ|REFSEQ:NM_001947 RPA|REFPROT:NP_001938 DBA|XM:XM_037430 |NA:AF508727 |NA:BC019107 |NA:X93921 |NA:none PAC|XP:XP_037430 SYM|DUSP7 NAM|dual specificity phosphatase 7 SYN|MKPX |MKP-X |PYST2 FNC|dual specificity phosphatase 7 |inactivation of MAPK ; GO:0000188 |protein amino acid dephosphorylation ; GO:0006470 CHR|3 PRD|Dual-specificity phosphatase-7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3843 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1849[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5903578 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001947 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001947 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3843 DBL|UNIGENE:Hs.3843 |OMIM:602749 |SNP:1849 MAP|3p21 ENZ|protein serine/threonine phosphatase activity ; GO:0004722 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 |MAP kinase phosphatase activity ; GO:0017017 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 720; expect == 0.0; MEOW:ref|XP_238551.2| (98%) |species == Mouse; gene == Dusp7; score == 625; expect == 1e-179; MEOW:MGgn0043677 (99%) |species == Mouse; gene == Dusp6; score == 519; expect == 9e-148; MEOW:MGgn0016720 (71%) |species == Human; gene == DUSP6; score == 518; expect == 3e-147; MEOW:HUgn0001848 (71%) |species == Mosquito; score == 253; expect == 1.0e-67; MEOW:AGgn0016464 (45%) |species == Fruitfly; gene == Mkp3; score == 251; expect == 4.1e-67; MEOW:FBgn0036844 (42%) |species == Worm; gene == lip-1; score == 170; expect == 1.3e-42; MEOW:CEgn0004039 (35%) } # EOR GENR { RETE|ID 1 HUgn0001850 CHR 1 11 DID 1 LocusLink:1850 MAP 1 11p15.5 NAM 1 dual specificity phosphatase 8 ORG 1 Homo sapiens SYM 1 DUSP8 ID|HUgn0001850 DID|LocusLink:1850 ORG|Homo sapiens RSQ|REFSEQ:NM_004420 RPA|REFPROT:NP_004411 DBA|XM:NM_004420 |NA:BC038231 |NA:BC045110 |NA:U27193 |NA:none PAC|XP:NP_004411 SYM|DUSP8 NAM|dual specificity phosphatase 8 SYN|HB5 |HVH8 |HVH-5 FNC|dual specificity phosphatase 8 |inactivation of MAPK ; GO:0000188 |protein amino acid dephosphorylation ; GO:0006470 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate |members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, |p38), which is associated with cellular proliferation and differentiation. Different |members of the family of dual specificity phosphatases show distinct substrate specificities |for various MAP kinases, different tissue distribution and subcellular localization, |and different modes of inducibility of their expression by extracellular stimuli. |This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the |adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced |by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present |on chromosome 10q11.2. CHR|11 PRD|H1 phosphatase, vaccinia virus homolog |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511898 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1850[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6054165 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004420 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004420 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511898 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.511898 |OMIM:602038 |SNP:1850 ENZ|EC:3.1.3.16 |EC:3.1.3.48 |protein tyrosine phosphatase activity ; GO:0004725 |hydrolase activity ; GO:0016787 |MAP kinase phosphatase activity ; GO:0017017 MAP|11p15.5 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Dusp8; score == 828; expect == 0.0; MEOW:MGgn0008470 (80%) |species == rat; score == 706; expect == 0.0; MEOW:ref|XP_341964.1| (76%) |species == Human; gene == LOC340852; score == 612; expect == 1e-175; MEOW:HUgn0340852 (87%) |species == Human; gene == LOC340733; score == 589; expect == 1e-168; MEOW:HUgn0340733 (65%) |species == Worm; gene == vhp-1; score == 233; expect == 2.2e-61; MEOW:CEgn0003050 (44%) } # EOR GENR { RETE|ID 1 HUgn0001851 CHR 1 10 DID 1 LocusLink:1851 MAP 1 10q11.2 NAM 1 dual specificity phosphatase 8 pseudogene ORG 1 Homo sapiens SYM 1 DUSP8P ID|HUgn0001851 DID|LocusLink:1851 CLA|Pseudogene ORG|Homo sapiens SYM|DUSP8P NAM|dual specificity phosphatase 8 pseudogene CHR|10 MAP|10q11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6065013 } # EOR GENR { RETE|ID 1 HUgn0001852 CHR 1 X DID 1 LocusLink:1852 MAP 1 Xq28 NAM 1 dual specificity phosphatase 9 ORG 1 Homo sapiens SYM 1 DUSP9 ID|HUgn0001852 DID|LocusLink:1852 ORG|Homo sapiens RSQ|REFSEQ:NM_001395 RPA|REFPROT:NP_001386 DBA|XM:NM_001395 |NA:BC034936 |NA:BC042166 |NA:BC060837 |NA:U87167 |NA:Y08302 PAC|XP:NP_001386 SYM|DUSP9 NAM|dual specificity phosphatase 9 SYN|MKP4 |MKP-4 FNC|dual specificity phosphatase 9 REAB|The protein encoded by this gene is a member of the dual specificity protein phosphatase |subfamily. These phosphatases inactivate their target kinases by dephosphorylating |both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate |members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, |p38), which is associated with cellular proliferation and differentiation. Different |members of the family of dual specificity phosphatases show distinct substrate specificities |for various MAP kinases, different tissue distribution and subcellular localization, |and different modes of inducibility of their expression by extracellular stimuli. |This gene product shows selectivity for members of the ERK family of MAP kinases, |is expressed only in placenta, kidney, and fetal liver, and is localized to the |cytoplasm and nucleus. CHR|X PRD|map kinase phosphatase 4 |serine/threonine specific protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=144879 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1852[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6262179 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001395 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001395 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=144879 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 DBL|UNIGENE:Hs.144879 |OMIM:300134 |SNP:1852 ENZ|EC:3.1.3.16 |EC:3.1.3.48 MAP|Xq28 HG|species == rat; score == 520; expect == 8e-148; MEOW:ref|XP_219711.2| (76%) |species == Mouse; gene == Dusp9; score == 448; expect == 2e-126; MEOW:MGgn0043678 (85%) |species == Human; gene == DUSP7; score == 368; expect == 4e-102; MEOW:HUgn0001849 (55%) |species == Human; gene == DUSP6; score == 310; expect == 8.5e-85; MEOW:HUgn0001848 (51%) |species == Mosquito; score == 211; expect == 7.5e-55; MEOW:AGgn0016464 (37%) |species == Fruitfly; gene == Mkp3; score == 207; expect == 8.6e-54; MEOW:FBgn0036844 (39%) |species == Worm; gene == lip-1; score == 153; expect == 1.7e-37; MEOW:CEgn0004039 (32%) } # EOR GENR { RETE|ID 1 HUgn0001853 CHR 1 10 DID 1 LocusLink:1853 MAP 1 10q11 NAM 1 dual specificity phosphatase pseudogene ORG 1 Homo sapiens SYM 1 DUSPP ID|HUgn0001853 DID|LocusLink:1853 CLA|Pseudogene ORG|Homo sapiens SYM|DUSPP NAM|dual specificity phosphatase pseudogene SYN|HVH4 CHR|10 MAP|10q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:385449 } # EOR GENR { RETE|ID 1 HUgn0001854 CHR 1 15 DID 1 LocusLink:1854 MAP 1 15q15-q21.1 NAM 1 dUTP pyrophosphatase ORG 1 Homo sapiens SYM 1 DUT ID|HUgn0001854 DID|LocusLink:1854 ORG|Homo sapiens RSQ|REFSEQ:NM_001948 RPA|REFPROT:NP_001939 DBA|XM:NM_001948 |NA:AF018429 |NA:AF018432 |NA:AB049113 |NA:BC033645 |NA:L11877 |NA:M89913 |NA:U31930 |NA:U62891 |NA:U90223 |NA:none PAC|XP:NP_001939 SYM|DUT NAM|dUTP pyrophosphatase SYN|dUTPase FNC|dUTP pyrophosphatase |nucleotide metabolism ; GO:0009117 |DNA replication ; GO:0006260 |dUTP metabolism ; GO:0046080 CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=367676 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1854[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135164 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001948 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001948 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=367676 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA151 DBL|UNIGENE:Hs.367676 |OMIM:601266 |SNP:1854 ENZ|EC:3.6.1.23 |dUTP diphosphatase activity ; GO:0004170 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|15q15-q21.1 CEL|mitochondrion ; GO:0005739 |nucleus ; GO:0005634 HG|species == Mouse; gene == Dutp; score == 288; expect == 8.1e-79; MEOW:MGgn0003592 (86%) |species == rat; score == 275; expect == 1.2e-74; MEOW:ref|NP_446044.1| (87%) |species == Mosquito; score == 213; expect == 1.7e-56; MEOW:AGgn0012604 (73%) |species == Fruitfly; gene == UTPase; score == 197; expect == 1.7e-51; MEOW:FBgn0013349 (69%) |species == Worm; gene == K07A1.2; score == 181; expect == 1.1e-45; MEOW:CEgn0013359 (58%) |species == rice; score == 169; expect == 1.3e-42; MEOW:gnl|TIGR|8360.m04147 (60%) |species == Weed; gene == At3g46940; score == 167; expect == 1.8e-42; MEOW:ATgn0013560 (63%) |species == Yeast; gene == DUT1; score == 150; expect == 2.4e-37; MEOW:SGgn0000456 (55%) } # EOR GENR { RETE|ID 1 HUgn0001855 CHR 1 1 DID 1 LocusLink:1855 MAP 1 1p36 NAM 1 dishevelled, dsh homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 DVL1 ID|HUgn0001855 DID|LocusLink:1855 ORG|Homo sapiens RSQ|REFSEQ:NM_004421 |REFSEQ:NM_181870 |REFSEQ:NM_182779 RPA|REFPROT:NP_004412 |REFPROT:NP_864764 |REFPROT:NP_877580 DBA|XM:NM_004421 |XM:NM_181870 |NA:AF006011 |NA:AK093189 |NA:AK095867 |NA:BC017225 |NA:BC025292 |NA:BC050454 |NA:U46461 |NA:none PAC|XP:NP_004412 |XP:NP_864764 SYM|DVL1 NAM|dishevelled, dsh homolog 1 (Drosophila) SYN|DVL |MGC54245 FNC|dishevelled 1 |dishevelled 1 isoform a |dishevelled 1 isoform b REAB|DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic |phosphoprotein that regulates cell proliferation, acting as a transducer molecule |for developmental processes, including segmentation and neuroblast specification. |DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel |syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region |as DVL1. The phenotypes of these diseases may be consistent with defects which might |be expected from aberrant expression of a DVL gene during development. Two transcript |variants encoding two different isoforms have been found for this gene. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74375 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1855[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230200 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004421 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004421 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74375 DBL|UNIGENE:Hs.74375 |OMIM:601365 |SNP:1855 MAP|1p36 HG|species == Mouse; gene == Dvl1; score == 900; expect == 0.0; MEOW:MGgn0003597 (88%) |species == rat; score == 881; expect == 0.0; MEOW:ref|NP_114008.1| (88%) |species == Human; gene == DVL3; score == 597; expect == 7e-171; MEOW:HUgn0001857 (68%) |species == Zfish; gene == dvl3; score == 597; expect == 7e-171; MEOW:ZFgn0002218 (64%) |species == Human; gene == DVL2; score == 552; expect == 3e-157; MEOW:HUgn0001856 (60%) |species == Mosquito; gene == LOC17066; score == 336; expect == 1.7e-92; MEOW:AGgn0017066 (63%) |species == Fruitfly; gene == dsh; score == 307; expect == 1.0e-83; MEOW:FBgn0000499 (64%) |species == Worm; gene == dsh-1; score == 209; expect == 3.1e-54; MEOW:CEgn0030887 (46%) } # EOR GENR { RETE|ID 1 HUgn0001856 CHR 1 17 DID 1 LocusLink:1856 MAP 1 17p13.2 NAM 1 dishevelled, dsh homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 DVL2 ID|HUgn0001856 DID|LocusLink:1856 ORG|Homo sapiens RSQ|REFSEQ:NM_004422 RPA|REFPROT:NP_004413 DBA|XM:NM_004422 |NA:AF006012 |NA:AK026019 |NA:BC014844 |NA:BT009822 |NA:none PAC|XP:NP_004413 SYM|DVL2 NAM|dishevelled, dsh homolog 2 (Drosophila) FNC|dishevelled 2 |imaginal disc pattern formation ; GO:0007447 |frizzled signaling pathway ; GO:0007222 |development ; GO:0007275 |intracellular signaling cascade ; GO:0007242 REAB|DVL2 is a member of multigene family that also contains DVL1 and DVL3. The vertebrate |dishevelled proteins have approximately 40% amino acid sequence similarity with |Drosophila dsh. DVL2 encodes a 90-kD protein that undergoes posttranslational phosphorylation |to form a 95-kD cytoplasmic protein. The mechanisms of dishevelled function in Wnt |signaling are likely to be conserved among metazoans. CHR|17 PRD|dishevelled 2 (homologous to Drosophila dsh) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118640 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1856[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230201 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004422 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004422 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118640 DBL|UNIGENE:Hs.118640 |OMIM:602151 |SNP:1856 MAP|17p13.2 ENZ|protein binding ; GO:0005515 |signal transducer activity ; GO:0004871 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Dvl2; score == 991; expect == 0.0; MEOW:MGgn0003598 (96%) |species == rat; score == 875; expect == 0.0; MEOW:ref|XP_239254.2| (90%) |species == Mouse; gene == Dvl3; score == 656; expect == 0.0; MEOW:MGgn0003599 (70%) |species == Human; gene == DVL3; score == 647; expect == 0.0; MEOW:HUgn0001857 (69%) |species == Zfish; gene == dvl3; score == 620; expect == 1e-177; MEOW:ZFgn0002218 (63%) |species == Mouse; gene == Dvl1; score == 554; expect == 4e-158; MEOW:MGgn0003597 (63%) |species == Human; gene == DVL1; score == 552; expect == 3e-157; MEOW:HUgn0001855 (60%) |species == Mosquito; gene == LOC17066; score == 346; expect == 1.7e-95; MEOW:AGgn0017066 (59%) |species == Fruitfly; gene == dsh; score == 311; expect == 9.1e-85; MEOW:FBgn0000499 (61%) |species == Worm; gene == dsh-1; score == 195; expect == 3.5e-50; MEOW:CEgn0030887 (45%) } # EOR GENR { RETE|ID 1 HUgn0001857 CHR 1 3 DID 1 LocusLink:1857 MAP 1 3q27 NAM 1 dishevelled, dsh homolog 3 (Drosophila) ORG 1 Homo sapiens SYM 1 DVL3 ID|HUgn0001857 DID|LocusLink:1857 ORG|Homo sapiens RSQ|REFSEQ:NM_004423 RPA|REFPROT:NP_004414 DBA|XM:NM_004423 |NA:AF006013 |NA:AL110278 |NA:BC018289 |NA:BC032459 |NA:D86963 |NA:U48252 |NA:U49262 |NA:U75651 PAC|XP:NP_004414 SYM|DVL3 NAM|dishevelled, dsh homolog 3 (Drosophila) SYN|KIAA0208 FNC|dishevelled 3 |heart development ; GO:0007507 |embryogenesis and morphogenesis ; GO:0007345 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 REAB|DVL3 is a member of multigene family that also contains DVL1 and DVL2. The vertebrate |dishevelled proteins have approximately 40% amino acid sequence similarity with |Drosophila dsh. DVL3 encodes a predicted 716-amino acid polypeptide that shows 74% |nucleotide similarity with human DVL1. Similarity is particularly high in the N-terminal |region and there is more divergence in the C-terminal regions. Charcot-Marie-Tooth |type 2B maps to chromosome 3q. The mechanisms of dishevelled function in Wnt signaling |are likely to be conserved among metazoans. CHR|3 PRD|dishevelled 3 (homologous to Drosophila dsh) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381928 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1857[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885881 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004423 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004423 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=381928 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0208 DBL|UNIGENE:Hs.381928 |OMIM:601368 |SNP:1857 MAP|3q27 HG|species == Mouse; gene == Dvl3; score == 951; expect == 0.0; MEOW:MGgn0003599 (98%) |species == rat; score == 940; expect == 0.0; MEOW:ref|XP_221304.2| (97%) |species == Zfish; gene == dvl3; score == 743; expect == 0.0; MEOW:ZFgn0002218 (65%) |species == Human; gene == DVL2; score == 647; expect == 0.0; MEOW:HUgn0001856 (69%) |species == Human; gene == DVL1; score == 597; expect == 7e-171; MEOW:HUgn0001855 (68%) |species == Mosquito; gene == LOC17066; score == 347; expect == 1.3e-95; MEOW:AGgn0017066 (58%) |species == Fruitfly; gene == dsh; score == 328; expect == 4.2e-90; MEOW:FBgn0000499 (54%) |species == Worm; gene == dsh-1; score == 160; expect == 1.3e-39; MEOW:CEgn0030887 (62%) } # EOR GENR { RETE|ID 1 HUgn0001858 DID 1 LocusLink:1858 NAM 1 dandy-walker syndrome ORG 1 Homo sapiens SYM 1 DWS ID|HUgn0001858 DID|LocusLink:1858 ORG|Homo sapiens SYM|DWS NAM|dandy-walker syndrome DBL|OMIM:220200 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128371 } # EOR GENR { RETE|ID 1 HUgn0001859 CHR 1 21 DID 1 LocusLink:1859 MAP 1 21q22.13 NAM 1 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A ORG 1 Homo sapiens SYM 1 DYRK1A ID|HUgn0001859 DID|LocusLink:1859 ORG|Homo sapiens RSQ|REFSEQ:NM_001396 |REFSEQ:NM_101395 |REFSEQ:NM_130436 |REFSEQ:NM_130437 |REFSEQ:NM_130438 RPA|REFPROT:NP_001387 |REFPROT:NP_567824 |REFPROT:NP_569120 |REFPROT:NP_569121 |REFPROT:NP_569122 DBA|XM:NM_001396 |XM:NM_101395 |XM:NM_130436 |XM:NM_130437 |XM:NM_130438 |NA:AB015282 |NA:AB015283 |NA:AB015284 |NA:AF108830 |NA:AJ001870 |NA:AJ001871 |NA:D85759 |NA:D86550 |NA:U52373 |NA:U58496 |NA:Z25423 |NA:none PAC|XP:NP_001387 |XP:NP_567824 |XP:NP_569120 |XP:NP_569121 |XP:NP_569122 SYM|DYRK1A NAM|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A SYN|MNB |DYRK |HP86 |MNBH |DYRK1 FNC|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A isoform 1 |dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A isoform 2 |dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A isoform 3 |dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A isoform 4 |dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A isoform 5 |protein amino acid phosphorylation ; GO:0006468 |neurogenesis ; GO:0007399 REAB|This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated |kinase (DYRK) family. This member contains a nuclear targeting signal sequence, |a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine |repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. |It may play a significant role in a signaling pathway regulating cell proliferation |and may be involved in brain development. This gene is a homolog of Drosophila mnb |(minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical |region of chromosome 21, and is considered to be a strong candidate gene for learning |defects associated with Down syndrome. Alternative splicing of this gene generates |several transcript variants differing from each other either in the 5' region or |in the 3' part of the coding region. These variants encode at least five different |isoforms. CHR|21 PRD|MNB protein kinase |MNB/DYRK protein kinase |serine/threonine kinase MNB |minibrain (Drosophila) homolog |mnb protein kinase homolog hp86 |protein kinase minibrain homolog |dual specificity YAK1-related kinase |serine/threonine-specific protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75842 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1859[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1297921 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130436 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130436 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.75842 |OMIM:600855 |SNP:1859 ENZ|EC:2.7.1.- |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|21q22.13 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1332; expect == 0.0; MEOW:ref|NP_036923.1| (99%) |species == Mouse; gene == Dyrk1a; score == 1326; expect == 0.0; MEOW:MGgn0003627 (99%) |species == Mosquito; gene == LOC24470; score == 686; expect == 0.0; MEOW:AGgn0024470 (76%) |species == Human; gene == DYRK1B; score == 674; expect == 0.0; MEOW:HUgn0009149 (73%) |species == Fruitfly; gene == mnb; score == 667; expect == 0.0; MEOW:FBgn0002777 (82%) |species == Worm; gene == mbk-1; score == 450; expect == 1e-126; MEOW:CEgn0015360 (70%) |species == Yeast; gene == YAK1; score == 255; expect == 6.1e-68; MEOW:SGgn0003677 (31%) |species == Weed; gene == At5g35980; score == 230; expect == 2.0e-60; MEOW:ATgn0022214 (39%) |species == rice; score == 199; expect == 2.5e-51; MEOW:gnl|TIGR|8350.m05822 (34%) |species == rice; score == 195; expect == 1.1e-49; MEOW:gnl|TIGR|8359.m04251 (35%) |species == Weed; gene == At4g32660; score == 194; expect == 7.2e-50; MEOW:ATgn0020901 (32%) |species == Weed; gene == At3g53570; score == 188; expect == 4.7e-48; MEOW:ATgn0013175 (31%) |species == Weed; gene == At3g17750; score == 188; expect == 1.3e-47; MEOW:ATgn0015610 (34%) |species == Weed; gene == At4g24740; score == 188; expect == 5.7e-48; MEOW:ATgn0019622 (32%) |species == Weed; gene == At1g73460; score == 186; expect == 6.8e-47; MEOW:ATgn0005320 (33%) |species == Weed; gene == At2g40120; score == 184; expect == 1.5e-46; MEOW:ATgn0010176 (42%) |species == rice; score == 181; expect == 1.5e-45; MEOW:gnl|TIGR|8353.m03445 (38%) |species == rice; score == 178; expect == 1.0e-44; MEOW:gnl|TIGR|8350.m05776 (39%) |species == rice; score == 165; expect == 7.2e-41; MEOW:gnl|TIGR|8352.m04755 (37%) } # EOR GENR { RETE|ID 1 HUgn0001860 CHR 1 9 DID 1 LocusLink:1860 MAP 1 9q31-q33 NAM 1 dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III) ORG 1 Homo sapiens SYM 1 DYS ID|HUgn0001860 DID|LocusLink:1860 ORG|Homo sapiens SYM|DYS NAM|dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III) SYN|FD CHR|9 DBL|OMIM:223900 MAP|9q31-q33 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:137085 |http://www.geneclinics.org/query?mim=223900 } # EOR GENR { RETE|ID 1 HUgn0001861 CHR 1 9 DID 1 LocusLink:1861 MAP 1 9q34 NAM 1 dystonia 1, torsion (autosomal dominant; torsin A) ORG 1 Homo sapiens SYM 1 DYT1 ID|HUgn0001861 DID|LocusLink:1861 ORG|Homo sapiens RSQ|REFSEQ:NM_000113 RPA|REFPROT:NP_000104 DBA|XM:NM_000113 |NA:AF007871 |NA:AK056062 |NA:AK075343 |NA:AK130769 |NA:BC000674 |NA:BC014484 |NA:BT006931 PAC|XP:NP_000104 SYM|DYT1 NAM|dystonia 1, torsion (autosomal dominant; torsin A) SYN|DQ2 |TOR1A FNC|torsin A |heat shock response ; GO:0006951 |protein folding ; GO:0006457 REAB|Torsin A is related to the Clp protease/heat shock family and is expressed prominently |in the the substantia nigra pars compacta. Mutations deleting one of 2 adjacent |glutamic acid codons (GAG, beginning at nucleotide 946) cause the autosomal dominant |disorder, torsion dystonia 1. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19261 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1861[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119854 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000113 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000113 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19261 |http://www.geneclinics.org/query?mim=128100 |http://www.geneclinics.org/query?mim=605204 DBL|UNIGENE:Hs.19261 |OMIM:605204 |SNP:1861 MAP|9q34 PHP|Dystonia, early-onset atypical, with myoclonic features |Dystonia-1, torsion ENZ|endopeptidase Clp activity ; GO:0008462 |ATP binding ; GO:0005524 |adenosinetriphosphatase activity ; GO:0004002 |heat shock protein activity ; GO:0003773 |chaperone activity ; GO:0003754 CEL|endoplasmic reticulum ; GO:0005783 |cytoplasm ; GO:0005737 HG|species == rat; score == 605; expect == 8e-174; MEOW:ref|NP_695215.1| (91%) |species == Mouse; gene == Dyt1; score == 604; expect == 2e-173; MEOW:MGgn0013694 (90%) |species == Human; gene == TOR1B; score == 461; expect == 2e-130; MEOW:HUgn0027348 (68%) |species == Worm; gene == tor-2; score == 246; expect == 1.7e-65; MEOW:CEgn0030036 (42%) |species == Worm; gene == tor-1; score == 217; expect == 4.3e-57; MEOW:CEgn0030037 (41%) |species == Fruitfly; gene == torp4a; score == 206; expect == 1.9e-53; MEOW:FBgn0025615 (34%) |species == Mosquito; score == 199; expect == 1.1e-51; MEOW:AGgn0019997 (36%) } # EOR GENR { RETE|ID 1 HUgn0001862 DID 1 LocusLink:1862 NAM 1 dystonia 2, torsion (autosomal recessive) ORG 1 Homo sapiens SYM 1 DYT2 ID|HUgn0001862 DID|LocusLink:1862 ORG|Homo sapiens SYM|DYT2 NAM|dystonia 2, torsion (autosomal recessive) DBL|OMIM:224500 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118788 } # EOR GENR { RETE|ID 1 HUgn0001863 CHR 1 X DID 1 LocusLink:1863 MAP 1 Xq13.1 NAM 1 dystonia 3 (with Parkinsonism) ORG 1 Homo sapiens SYM 1 DYT3 ID|HUgn0001863 DID|LocusLink:1863 ORG|Homo sapiens SYM|DYT3 NAM|dystonia 3 (with Parkinsonism) SYN|XDP CHR|X PRD|Torsion dystonia-parkinsonism, Filipino type DBL|OMIM:314250 MAP|Xq13.1 PHP|Dystonia-3, torsion, with parkinsonism, Filipino type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118789 |http://www.geneclinics.org/query?mim=314250 } # EOR GENR { RETE|ID 1 HUgn0001864 DID 1 LocusLink:1864 NAM 1 dystonia 4, torsion (autosomal dominant) ORG 1 Homo sapiens SYM 1 DYT4 ID|HUgn0001864 DID|LocusLink:1864 ORG|Homo sapiens SYM|DYT4 NAM|dystonia 4, torsion (autosomal dominant) DBL|OMIM:128101 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:433751 |http://www.geneclinics.org/query?mim=128101 } # EOR GENR { RETE|ID 1 HUgn0001865 CHR 1 8 DID 1 LocusLink:1865 MAP 1 8p21-p22 NAM 1 dystonia 6, torsion (autosomal dominant) ORG 1 Homo sapiens SYM 1 DYT6 ID|HUgn0001865 DID|LocusLink:1865 ORG|Homo sapiens SYM|DYT6 NAM|dystonia 6, torsion (autosomal dominant) CHR|8 PRD|Dystonia-6 (torsion dystonia, adult onset, of mixed type) DBL|OMIM:602629 MAP|8p21-p22 PHP|Dystonia-6, torsion URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1313689 |http://www.geneclinics.org/query?mim=602629 } # EOR GENR { RETE|ID 1 HUgn0001866 CHR 1 18 DID 1 LocusLink:1866 MAP 1 18p NAM 1 dystonia 7, torsion (autosomal dominant) ORG 1 Homo sapiens SYM 1 DYT7 ID|HUgn0001866 DID|LocusLink:1866 ORG|Homo sapiens SYM|DYT7 NAM|dystonia 7, torsion (autosomal dominant) CHR|18 PRD|Dystonia-7 (torsion dystonia, adult-onset, focal) DBL|OMIM:602124 MAP|18p PHP|Dystonia-7, torsion URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:4590632 |http://www.geneclinics.org/query?mim=602124 } # EOR GENR { RETE|ID 1 HUgn0001867 CHR 1 15 DID 1 LocusLink:1867 MAP 1 15q21 NAM 1 dyslexia susceptibility 1 ORG 1 Homo sapiens SYM 1 DYX1 ID|HUgn0001867 DID|LocusLink:1867 ORG|Homo sapiens SYM|DYX1 NAM|dyslexia susceptibility 1 SYN|RD CHR|15 DBL|OMIM:127700 MAP|15q21 PHP|Dyslexia-1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1391796 } # EOR GENR { RETE|ID 1 HUgn0001868 CHR 1 6 DID 1 LocusLink:1868 MAP 1 6 NAM 1 dyslexia susceptibility 2 ORG 1 Homo sapiens SYM 1 DYX2 ID|HUgn0001868 DID|LocusLink:1868 ORG|Homo sapiens SYM|DYX2 NAM|dyslexia susceptibility 2 SYN|DLX2 |DYLX2 REAB|Reading disability, or dyslexia, is a major social, educational, and mental health |problem. In spite of average intelligence and adequate educational opportunities, |5 to 10% of school children have substantial reading deficits. Twin and family studies |have shown a substantial genetic component to the disorder, with heritable variation |estimated at 50 to 70% (see MIM 127700).[supplied by OMIM] CHR|6 PRD|dyslexia 2 DBL|OMIM:600202 MAP|6 PHP|Dyslexia, specific, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:437584 } # EOR GENR { RETE|ID 1 HUgn0001869 CHR 1 20 DID 1 LocusLink:1869 MAP 1 20q11.2 NAM 1 E2F transcription factor 1 ORG 1 Homo sapiens SYM 1 E2F1 ID|HUgn0001869 DID|LocusLink:1869 ORG|Homo sapiens RSQ|REFSEQ:NM_005225 RPA|REFPROT:NP_005216 DBA|XM:NM_005225 |NA:S74230 |NA:U47675 |NA:U47677 |NA:AF086380 |NA:BC005098 |NA:BC050369 |NA:BC058902 |NA:M96577 |NA:S49592 |NA:none PAC|XP:NP_005216 SYM|E2F1 NAM|E2F transcription factor 1 SYN|RBP3 |E2F-1 |RBBP3 FNC|E2F transcription factor 1 |G1 phase of mitotic cell cycle ; GO:0000080 |regulation of transcription, DNA-dependent ; GO:0006355 |apoptosis ; GO:0006915 |regulation of cell cycle ; GO:0000074 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|The protein encoded by this gene is a member of the E2F family of transcription factors. |The E2F family plays a crucial role in the control of cell cycle and action of tumor |suppressor proteins and is also a target of the transforming proteins of small DNA |tumor viruses. The E2F proteins contain several evolutionally conserved domains |found in most members of the family. These domains include a DNA binding domain, |a dimerization domain which determines interaction with the differentiation regulated |transcription factor proteins (DP), a transactivation domain enriched in acidic |amino acids, and a tumor suppressor protein association domain which is embedded |within the transactivation domain. This protein and another 2 members, E2F2 and |E2F3, have an additional cyclin binding domain. This protein binds preferentially |to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both |cell proliferation and p53-dependent/independent apoptosis. CHR|20 PRD|retinoblastoma-associated protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=96055 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1869[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134661 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005225 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005225 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=96055 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.96055 |OMIM:189971 |SNP:1869 MAP|20q11.2 ENZ|transcription co-repressor activity ; GO:0003714 |transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == E2f1; score == 568; expect == 1e-162; MEOW:MGgn0003635 (84%) |species == rat; score == 554; expect == 4e-158; MEOW:ref|XP_230765.2| (85%) |species == Human; gene == E2F3; score == 263; expect == 1.1e-70; MEOW:HUgn0001871 (44%) |species == Human; gene == E2F2; score == 238; expect == 4.9e-63; MEOW:HUgn0001870 (43%) |species == Weed; gene == E2FC; score == 139; expect == 2.7e-33; MEOW:ATgn0005976 (34%) |species == rice; score == 138; expect == 1.2e-32; MEOW:gnl|TIGR|8351.m03119 (41%) |species == rice; score == 136; expect == 5.8e-32; MEOW:gnl|TIGR|8359.m00517 (41%) |species == Fruitfly; gene == E2f; score == 134; expect == 5.8e-32; MEOW:FBgn0011766 (38%) |species == Weed; gene == E2FB; score == 132; expect == 5.4e-31; MEOW:ATgn0030675 (31%) } # EOR GENR { RETE|ID 1 HUgn0001870 CHR 1 1 DID 1 LocusLink:1870 MAP 1 1p36 NAM 1 E2F transcription factor 2 ORG 1 Homo sapiens SYM 1 E2F2 ID|HUgn0001870 DID|LocusLink:1870 ORG|Homo sapiens RSQ|REFSEQ:NM_004091 RPA|REFPROT:NP_004082 DBA|XM:NM_004091 |NA:AF086395 |NA:AK092799 |NA:BC007609 |NA:BC053676 |NA:L22846 |NA:none PAC|XP:NP_004082 SYM|E2F2 NAM|E2F transcription factor 2 SYN|E2F-2 FNC|E2F transcription factor 2 REAB|The protein encoded by this gene is a member of the E2F family of transcription factors. |The E2F family plays a crucial role in the control of cell cycle and action of tumor |suppressor proteins and is also a target of the transforming proteins of small DNA |tumor viruses. The E2F proteins contain several evolutionally conserved domains |found in most members of the family. These domains include a DNA binding domain, |a dimerization domain which determines interaction with the differentiation regulated |transcription factor proteins (DP), a transactivation domain enriched in acidic |amino acids, and a tumor suppressor protein association domain which is embedded |within the transactivation domain. This protein and another 2 members, E2F1 and |E2F3, have an additional cyclin binding domain. This protein binds specifically |to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits |overall 46% amino acid identity to E2F1. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=231444 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1870[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270248 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004091 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004091 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=231444 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.231444 |OMIM:600426 |SNP:1870 MAP|1p36 HG|species == Mouse; gene == E2f2; score == 674; expect == 0.0; MEOW:MGgn0003636 (80%) |species == Human; gene == E2F3; score == 293; expect == 1.3e-79; MEOW:HUgn0001871 (49%) |species == Human; gene == E2F1; score == 238; expect == 4.9e-63; MEOW:HUgn0001869 (43%) |species == rat; score == 211; expect == 4.3e-55; MEOW:ref|XP_230765.2| (44%) |species == Weed; gene == E2FB; score == 172; expect == 3.6e-43; MEOW:ATgn0030675 (38%) |species == rice; score == 166; expect == 2.1e-41; MEOW:gnl|TIGR|8351.m03119 (42%) |species == Weed; gene == E2FA; score == 161; expect == 8.7e-40; MEOW:ATgn0007693 (41%) |species == rice; score == 159; expect == 6.4e-39; MEOW:gnl|TIGR|8359.m00517 (49%) |species == Weed; gene == E2FC; score == 153; expect == 1.8e-37; MEOW:ATgn0005976 (45%) |species == rice; score == 141; expect == 5.6e-34; MEOW:gnl|TIGR|8352.m03158 (47%) |species == Fruitfly; gene == E2f; score == 138; expect == 1.4e-32; MEOW:FBgn0011766 (43%) |species == rice; score == 138; expect == 6.2e-33; MEOW:gnl|TIGR|8352.m00103 (34%) } # EOR GENR { RETE|ID 1 HUgn0001871 CHR 1 6 DID 1 LocusLink:1871 MAP 1 6p22 NAM 1 E2F transcription factor 3 ORG 1 Homo sapiens SYM 1 E2F3 ID|HUgn0001871 DID|LocusLink:1871 ORG|Homo sapiens RSQ|REFSEQ:NM_001949 RPA|REFPROT:NP_001940 DBA|XM:NM_001949 |NA:BC016847 |NA:D38550 |NA:Y10479 |NA:none PAC|XP:NP_001940 SYM|E2F3 NAM|E2F transcription factor 3 SYN|E2F-3 |KIAA0075 FNC|E2F transcription factor 3 REAB|The protein encoded by this gene is a member of the E2F family of transcription factors. |The E2F family plays a crucial role in the control of cell cycle and action of tumor |suppressor proteins and is also a target of the transforming proteins of small DNA |tumor viruses. The E2F proteins contain several evolutionally conserved domains |found in most members of the family. These domains include a DNA binding domain, |a dimerization domain which determines interaction with the differentiation regulated |transcription factor proteins (DP), a transactivation domain enriched in acidic |amino acids, and a tumor suppressor protein association domain which is embedded |within the transactivation domain. This protein and another 2 members, E2F1 and |E2F2, have an additional cyclin binding domain. This protein binds specifically |to retinoblastoma protein pRB in a cell-cycle dependent manner. Alternative gene |splicing is found in the mouse homolog, but has not reported in human yet. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1189 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1871[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270252 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001949 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001949 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1189 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0075 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.1189 |OMIM:600427 |SNP:1871 MAP|6p22 HG|species == rat; score == 382; expect == 2e-106; MEOW:ref|XP_214476.2| (81%) |species == Mouse; gene == E2f2; score == 322; expect == 3.4e-88; MEOW:MGgn0003636 (51%) |species == Human; gene == E2F2; score == 293; expect == 1.3e-79; MEOW:HUgn0001870 (49%) |species == Human; gene == E2F1; score == 263; expect == 1.1e-70; MEOW:HUgn0001869 (44%) |species == rice; score == 181; expect == 8.4e-46; MEOW:gnl|TIGR|8351.m03119 (46%) |species == Weed; gene == E2FB; score == 180; expect == 1.3e-45; MEOW:ATgn0030675 (42%) |species == Weed; gene == E2FA; score == 174; expect == 7.6e-44; MEOW:ATgn0007693 (42%) |species == rice; score == 168; expect == 1.5e-41; MEOW:gnl|TIGR|8359.m00517 (42%) |species == Fruitfly; gene == E2f; score == 152; expect == 1.7e-37; MEOW:FBgn0011766 (45%) |species == Weed; gene == E2FC; score == 148; expect == 4.5e-36; MEOW:ATgn0005976 (44%) |species == rice; score == 145; expect == 5.1e-35; MEOW:gnl|TIGR|8352.m03158 (40%) } # EOR GENR { RETE|ID 1 HUgn0001872 CHR 1 17 DID 1 LocusLink:1872 MAP 1 17q11-q12 NAM 1 E2F transcription factor 3 pseudogene 1 ORG 1 Homo sapiens SYM 1 E2F3P1 ID|HUgn0001872 DID|LocusLink:1872 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC015911 SYM|E2F3P1 NAM|E2F transcription factor 3 pseudogene 1 CHR|17 MAP|17q11-q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:270262 } # EOR GENR { RETE|ID 1 HUgn0001873 CHR 1 2 DID 1 LocusLink:1873 MAP 1 2q33-q35 NAM 1 E2F transcription factor 3 pseudogene 2 ORG 1 Homo sapiens SYM 1 E2F3P2 ID|HUgn0001873 DID|LocusLink:1873 CLA|Pseudogene ORG|Homo sapiens SYM|E2F3P2 NAM|E2F transcription factor 3 pseudogene 2 CHR|2 MAP|2q33-q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:270265 } # EOR GENR { RETE|ID 1 HUgn0001874 CHR 1 16 DID 1 LocusLink:1874 MAP 1 16q21-q22 NAM 1 E2F transcription factor 4, p107/p130-binding ORG 1 Homo sapiens SYM 1 E2F4 ID|HUgn0001874 DID|LocusLink:1874 ORG|Homo sapiens RSQ|REFSEQ:NM_001950 RPA|REFPROT:NP_001941 DBA|XM:NM_001950 |NA:AF250378 |NA:BC021050 |NA:BC031071 |NA:BC033180 |NA:S75174 |NA:U15641 |NA:X86096 |NA:none PAC|XP:NP_001941 SYM|E2F4 NAM|E2F transcription factor 4, p107/p130-binding SYN|E2F-4 FNC|E2F transcription factor 4 |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene is a member of the E2F family of transcription factors. |The E2F family plays a crucial role in the control of cell cycle and action of tumor |suppressor proteins and is also a target of the transforming proteins of small DNA |tumor viruses. The E2F proteins contain several evolutionally conserved domains |found in most members of the family. These domains include a DNA binding domain, |a dimerization domain which determines interaction with the differentiation regulated |transcription factor proteins (DP), a transactivation domain enriched in acidic |amino acids, and a tumor suppressor protein association domain which is embedded |within the transactivation domain. This protein binds to all three of the tumor |suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. |It plays an important role in the suppression of proliferation-associated genes, |and its gene mutation and increased expression may be associated with human cancer. CHR|16 PRD|p107/p130-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=108371 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1874[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450301 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001950 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001950 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=108371 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.108371 |OMIM:600659 |SNP:1874 MAP|16q21-q22 ENZ|transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == E2f4; score == 586; expect == 4e-168; MEOW:MGgn0003638 (91%) |species == rat; score == 542; expect == 1e-154; MEOW:ref|XP_226441.2| (87%) |species == Human; gene == E2F5; score == 289; expect == 1.4e-78; MEOW:HUgn0001875 (73%) |species == rice; score == 173; expect == 1.7e-43; MEOW:gnl|TIGR|8351.m03119 (51%) |species == Weed; gene == E2FB; score == 168; expect == 5.2e-42; MEOW:ATgn0030675 (44%) |species == Weed; gene == E2FA; score == 163; expect == 2.3e-40; MEOW:ATgn0007693 (45%) |species == Weed; gene == E2FC; score == 154; expect == 1.1e-37; MEOW:ATgn0005976 (43%) |species == rice; score == 154; expect == 7.3e-38; MEOW:gnl|TIGR|8359.m00517 (42%) |species == Worm; gene == efl-1; score == 148; expect == 3.7e-36; MEOW:CEgn0020083 (43%) |species == rice; score == 139; expect == 2.1e-33; MEOW:gnl|TIGR|8352.m03158 (37%) } # EOR GENR { RETE|ID 1 HUgn0001875 CHR 1 8 DID 1 LocusLink:1875 MAP 1 8q21.2 NAM 1 E2F transcription factor 5, p130-binding ORG 1 Homo sapiens SYM 1 E2F5 ID|HUgn0001875 DID|LocusLink:1875 ORG|Homo sapiens RSQ|REFSEQ:NM_001951 RPA|REFPROT:NP_001942 DBA|XM:NM_001951 |NA:U15642 |NA:U31556 |NA:X86097 |NA:Z78409 |NA:none PAC|XP:NP_001942 SYM|E2F5 NAM|E2F transcription factor 5, p130-binding SYN|E2F-5 FNC|E2F transcription factor 5 |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene is a member of the E2F family of transcription factors. |The E2F family plays a crucial role in the control of cell cycle and action of tumor |suppressor proteins and is also a target of the transforming proteins of small DNA |tumor viruses. The E2F proteins contain several evolutionally conserved domains |found in most members of the family. These domains include a DNA binding domain, |a dimerization domain which determines interaction with the differentiation regulated |transcription factor proteins (DP), a transactivation domain enriched in acidic |amino acids, and a tumor suppressor protein association domain which is embedded |within the transactivation domain. This protein is differentially phosphorylated |and is expressed in a wide variety of human tissues. It is more homologous to E2F4, |a family member, than to other members. Both this protein and E2F4 interact with |tumor suppressor proteins p130 and p107, but not with pRB. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447905 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1875[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:578742 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001951 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001951 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.447905 |OMIM:600967 |SNP:1875 MAP|8q21.2 ENZ|protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == E2f5; score == 491; expect == 2e-139; MEOW:MGgn0003639 (93%) |species == rat; score == 488; expect == 3e-138; MEOW:ref|XP_342210.1| (92%) |species == rat; score == 474; expect == 3e-134; MEOW:ref|XP_214802.2| (91%) |species == Human; gene == E2F4; score == 289; expect == 1.4e-78; MEOW:HUgn0001874 (73%) |species == Weed; gene == E2FB; score == 177; expect == 8.6e-45; MEOW:ATgn0030675 (40%) |species == rice; score == 172; expect == 3.0e-43; MEOW:gnl|TIGR|8351.m03119 (48%) |species == Weed; gene == E2FA; score == 169; expect == 2.4e-42; MEOW:ATgn0007693 (44%) |species == rice; score == 162; expect == 5.5e-40; MEOW:gnl|TIGR|8359.m00517 (49%) |species == Weed; gene == E2FC; score == 151; expect == 9.1e-37; MEOW:ATgn0005976 (44%) |species == Worm; gene == efl-1; score == 141; expect == 7.7e-34; MEOW:CEgn0020083 (41%) } # EOR GENR { RETE|ID 1 HUgn0001876 CHR 1 2 DID 1 LocusLink:1876 MAP 1 2p25.1 NAM 1 E2F transcription factor 6 ORG 1 Homo sapiens SYM 1 E2F6 ID|HUgn0001876 DID|LocusLink:1876 ORG|Homo sapiens RSQ|REFSEQ:NM_001952 |REFSEQ:NM_198256 |REFSEQ:NM_198257 |REFSEQ:NM_198258 |REFSEQ:NM_198325 RPA|REFPROT:NP_001943 |REFPROT:NP_937987 |REFPROT:NP_937988 |REFPROT:NP_937989 |REFPROT:NP_938084 DBA|XM:NM_001952 |NA:AJ493061 |NA:AY083997 |NA:AF041381 |NA:AF059292 |NA:AF088059 |NA:AK096197 |NA:AU142999 |NA:AY083996 |NA:BC008348 |NA:BQ447956 |NA:none PAC|XP:NP_001943 SYM|E2F6 NAM|E2F transcription factor 6 SYN|E2F-6 FNC|E2F transcription factor 6 isoform a |E2F transcription factor 6 isoform b |E2F transcription factor 6 isoform c |E2F transcription factor 6 isoform d |regulation of transcription, DNA-dependent ; GO:0006355 |regulation of cell cycle ; GO:0000074 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|This gene encodes a member of the E2F transcription factor protein family. E2F family |members play a crucial role in control of the cell cycle and of the action of tumor |suppressor proteins. They are also a target of the transforming proteins of small |DNA tumor viruses. Many E2F proteins contain several evolutionarily conserved domains: |a DNA binding domain, a dimerization domain which determines interaction with the |differentiation regulated transcription factor proteins (DP), a transactivation |domain enriched in acidic amino acids, and a tumor suppressor protein association |domain which is embedded within the transactivation domain. The encoded protein |of this gene is atypical because it lacks the transactivation and tumor suppressor |protein association domains. It contains a modular suppression domain and is an |inhibitor of E2F-dependent transcription. The protein is part of a multimeric protein |complex that contains a histone methyltransferase and the transcription factors |Mga and Max. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=135465 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1876[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836820 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198258 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198258 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=135465 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 DBL|UNIGENE:Hs.135465 |OMIM:602944 |SNP:1876 MAP|2p25.1 ENZ|transcription co-repressor activity ; GO:0003714 |transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == E2f6; score == 473; expect == 6e-134; MEOW:MGgn0013647 (86%) |species == rat; score == 332; expect == 1.4e-91; MEOW:ref|XP_233986.1| (93%) |species == Human; gene == LOC139542; score == 249; expect == 1.5e-66; MEOW:HUgn0139542 (53%) |species == rice; score == 159; expect == 2.6e-39; MEOW:gnl|TIGR|8351.m03119 (44%) |species == rice; score == 157; expect == 1.7e-38; MEOW:gnl|TIGR|8359.m00517 (48%) |species == Weed; gene == E2FB; score == 155; expect == 3.0e-38; MEOW:ATgn0030675 (47%) |species == Weed; gene == E2FA; score == 151; expect == 1.2e-36; MEOW:ATgn0007693 (42%) |species == Weed; gene == E2FC; score == 143; expect == 1.5e-34; MEOW:ATgn0005976 (42%) } # EOR GENR { RETE|ID 1 HUgn0001877 CHR 1 16 DID 1 LocusLink:1877 MAP 1 16p13.3 NAM 1 E4F transcription factor 1 ORG 1 Homo sapiens SYM 1 E4F1 ID|HUgn0001877 DID|LocusLink:1877 ORG|Homo sapiens RSQ|REFSEQ:NM_004424 RPA|REFPROT:NP_004415 DBA|XM:NM_004424 |NA:BC001713 |NA:BC014068 |NA:U87269 PAC|XP:NP_004415 SYM|E4F1 NAM|E4F transcription factor 1 SYN|E4F FNC|p120E4F |cell proliferation ; GO:0008283 REAB|The zinc finger protein encoded by this gene is one of several cellular transcription |factors whose DNA-binding activities are regulated through the action of adenovirus |E1A. A 50-kDa amino-terminal product is generated from the full-length protein through |proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. |The full-length gene product represses transcription from the E4 promoter in the |absence of E1A, while the 50-kDa form acts as a transcriptional activator in its |presence. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154196 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1877[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1211162 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004424 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004424 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154196 DBL|UNIGENE:Hs.154196 |OMIM:603022 |SNP:1877 MAP|16p13.3 ENZ|transcription co-repressor activity ; GO:0003714 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 HG|species == Mouse; gene == E4f1; score == 1006; expect == 0.0; MEOW:MGgn0003640 (87%) |species == rat; score == 959; expect == 0.0; MEOW:ref|XP_213244.2| (72%) |species == Human; gene == LOC158431; score == 163; expect == 3.1e-40; MEOW:HUgn0158431 (41%) |species == Human; gene == ZNF124; score == 162; expect == 5.2e-40; MEOW:HUgn0007678 (40%) |species == Human; gene == ZNF436; score == 162; expect == 8.9e-40; MEOW:HUgn0080818 (40%) |species == Human; gene == ZNF333; score == 162; expect == 8.9e-40; MEOW:HUgn0084449 (42%) |species == Human; gene == FLJ38002; score == 162; expect == 5.2e-40; MEOW:HUgn0137209 (38%) |species == Human; gene == PRDM9; score == 161; expect == 1.5e-39; MEOW:HUgn0056979 (41%) |species == Human; gene == LOC90485; score == 161; expect == 1.2e-39; MEOW:HUgn0090485 (41%) |species == Human; gene == FLJ14855; score == 161; expect == 2.0e-39; MEOW:HUgn0091392 (40%) |species == Human; gene == FLJ34817; score == 161; expect == 1.2e-39; MEOW:HUgn0115196 (39%) |species == Fruitfly; gene == Meics; score == 146; expect == 2.3e-35; MEOW:FBgn0025874 (42%) |species == Mosquito; score == 143; expect == 1.8e-34; MEOW:AGgn0021681 (40%) |species == Fruitfly; gene == CG31632; score == 142; expect == 5.6e-34; MEOW:FBgn0051632 (40%) |species == Mosquito; gene == LOC21008; score == 141; expect == 6.9e-34; MEOW:AGgn0021008 (36%) |species == Fruitfly; gene == CG5245; score == 139; expect == 3.6e-33; MEOW:FBgn0038047 (36%) |species == Mosquito; score == 137; expect == 1.0e-32; MEOW:AGgn0016104 (37%) |species == Zfish; gene == drl; score == 137; expect == 1.5e-33; MEOW:ZFgn0000666 (35%) |species == Mosquito; gene == LOC16623; score == 134; expect == 1.4e-31; MEOW:AGgn0016623 (41%) |species == Mosquito; score == 134; expect == 1.1e-31; MEOW:AGgn0028787 (36%) |species == Fruitfly; gene == CG15436; score == 132; expect == 3.4e-31; MEOW:FBgn0031610 (37%) |species == chimp; score == 130; expect == 5.0e-32; MEOW:sp|P51506|ZN80_PANTR (35%) |species == Zfish; gene == fezl; score == 128; expect == 5.5e-31; MEOW:ZFgn0001940 (34%) } # EOR GENR { RETE|ID 1 HUgn0001878 CHR 1 19 DID 1 LocusLink:1878 MAP 1 19q13.1-q13.3 NAM 1 ECHO virus (serotypes 4, 6, 11, 19) sensitivity ORG 1 Homo sapiens SYM 1 E11S ID|HUgn0001878 DID|LocusLink:1878 ORG|Homo sapiens SYM|E11S NAM|ECHO virus (serotypes 4, 6, 11, 19) sensitivity CHR|19 PRD|Echo 11 sensitivity DBL|OMIM:129150 MAP|19q13.1-q13.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119101 } # EOR GENR { RETE|ID 1 HUgn0001879 CHR 1 5 DID 1 LocusLink:1879 MAP 1 5q34 NAM 1 early B-cell factor ORG 1 Homo sapiens SYM 1 EBF ID|HUgn0001879 DID|LocusLink:1879 ORG|Homo sapiens RSQ|REFSEQ:NM_024007 RPA|REFPROT:NP_076870 DBA|XM:NM_024007 |NA:AF208502 |NA:BC019927 |NA:BC038805 |NA:BC041178 |NA:none PAC|XP:NP_076870 SYM|EBF NAM|early B-cell factor SYN|COE1 |EBF1 |OLF1 |O/E-1 FNC|early B-cell factor CHR|5 PRD|early B-cell factor 1 |olfactory neuronal transcription factor 1 |Collier, Olf and EBF transcription factor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=120785 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1879[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:687016 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_024007 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_024007 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=120785 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27582 DBL|UNIGENE:Hs.120785 |OMIM:164343 |SNP:1879 MAP|5q34 HG|species == Mouse; gene == Ebf1; score == 1123; expect == 0.0; MEOW:MGgn0003673 (100%) |species == rat; score == 1072; expect == 0.0; MEOW:ref|NP_446272.1| (98%) |species == Human; gene == DKFZp667B0210; score == 1004; expect == 0.0; MEOW:HUgn0253738 (89%) |species == Mouse; gene == Ebf3; score == 971; expect == 0.0; MEOW:MGgn0003675 (83%) |species == Mouse; gene == Ebf2; score == 899; expect == 0.0; MEOW:MGgn0003674 (75%) |species == Human; gene == KIAA1442; score == 852; expect == 0.0; MEOW:HUgn0057593 (74%) |species == Zfish; gene == coe2; score == 807; expect == 0.0; MEOW:ZFgn0000303 (68%) |species == Mosquito; score == 647; expect == 0.0; MEOW:AGgn0019934 (66%) |species == Fruitfly; gene == kn; score == 640; expect == 0.0; MEOW:FBgn0001319 (64%) } # EOR GENR { RETE|ID 1 HUgn0001880 CHR 1 13 DID 1 LocusLink:1880 MAP 1 13q32.3 NAM 1 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) ORG 1 Homo sapiens SYM 1 EBI2 ID|HUgn0001880 DID|LocusLink:1880 ORG|Homo sapiens RSQ|REFSEQ:NM_004951 RPA|REFPROT:NP_004942 DBA|XM:NM_004951 |NA:BC020752 |NA:L08177 |NA:none PAC|XP:NP_004942 SYM|EBI2 NAM|Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) FNC|EBV-induced G protein-coupled receptor 2 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |immune response ; GO:0006955 REAB|This gene was identified by the up-regulation of its expression upon Epstein-Barr |virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled |receptor that is most closely related to the thrombin receptor. Expression of this |gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte |cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=784 |http://www.gdb.org/gdb-bin/genera/accno?GDB:342113 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004951 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004951 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=784 DBL|UNIGENE:Hs.784 |OMIM:605741 |SNP:1880 MAP|13q32.3 CEL|integral to plasma membrane ; GO:0005887 ENZ|rhodopsin-like receptor activity ; GO:0001584 |purinergic nucleotide receptor activity, G-protein coupled ; GO:0045028 HG|species == rat; score == 627; expect == 2e-180; MEOW:ref|XP_224544.2| (87%) |species == Mouse; gene == Ebi2; score == 608; expect == 1e-174; MEOW:MGgn0043876 (87%) |species == Human; gene == P2RY5; score == 161; expect == 4.5e-40; MEOW:HUgn0010161 (32%) |species == Human; gene == CYSLTR1; score == 160; expect == 1.0e-39; MEOW:HUgn0010800 (29%) |species == Human; gene == GPR17; score == 159; expect == 1.7e-39; MEOW:HUgn0002840 (31%) |species == Human; gene == GPR23; score == 155; expect == 3.3e-38; MEOW:HUgn0002846 (32%) |species == Human; gene == CYSLTR2; score == 154; expect == 5.6e-38; MEOW:HUgn0057105 (32%) |species == Human; gene == F2RL2; score == 152; expect == 3.8e-37; MEOW:HUgn0002151 (31%) |species == Human; gene == GPR34; score == 148; expect == 4.3e-36; MEOW:HUgn0002857 (25%) |species == Human; gene == CCR1; score == 147; expect == 6.8e-36; MEOW:HUgn0001230 (30%) |species == Human; gene == FKSG79; score == 143; expect == 1.5e-34; MEOW:HUgn0084636 (28%) |species == Human; gene == F2R; score == 141; expect == 8.3e-34; MEOW:HUgn0002149 (30%) |species == Human; gene == P2RY8; score == 141; expect == 6.4e-34; MEOW:HUgn0286530 (25%) |species == Human; gene == RPL38P1; score == 140; expect == 1.4e-33; MEOW:HUgn0116809 (28%) |species == chimp; score == 139; expect == 6.1e-35; MEOW:sp|Q9GLN9|Q9GLN9 (28%) |species == Human; gene == GPR87; score == 132; expect == 3.8e-31; MEOW:HUgn0053836 (27%) |species == chimp; score == 130; expect == 2.8e-32; MEOW:sp|Q9TUW5|Q9TUW5 (27%) |species == chimp; score == 129; expect == 6.3e-32; MEOW:sp|AAK43377|AAK43377 (27%) |species == chimp; score == 129; expect == 4.8e-32; MEOW:sp|O18770|O18770 (27%) |species == chimp; score == 129; expect == 6.3e-32; MEOW:sp|P56440|CKR5_PANTR (27%) |species == chimp; score == 129; expect == 6.3e-32; MEOW:sp|Q9TQW4|Q9TQW4 (27%) |species == chimp; score == 129; expect == 3.7e-32; MEOW:sp|Q9TV50|Q9TV50 (27%) |species == chimp; score == 127; expect == 1.8e-31; MEOW:sp|Q9TUW6|Q9TUW6 (27%) |species == chimp; score == 127; expect == 1.4e-31; MEOW:sp|Q9TUW7|Q9TUW7 (27%) |species == Zfish; gene == cxcr4a; score == 126; expect == 8.6e-31; MEOW:ZFgn0002418 (27%) |species == chimp; score == 125; expect == 6.9e-31; MEOW:sp|O18772|O18772 (27%) } # EOR GENR { RETE|ID 1 HUgn0001881 CHR 1 X DID 1 LocusLink:1881 MAP 1 Xq27.3-qter NAM 1 epidermolysis bullosa, macular type ORG 1 Homo sapiens SYM 1 EBM ID|HUgn0001881 DID|LocusLink:1881 ORG|Homo sapiens SYM|EBM NAM|epidermolysis bullosa, macular type CHR|X DBL|OMIM:302000 MAP|Xq27.3-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119102 } # EOR GENR { RETE|ID 1 HUgn0001884 DID 1 LocusLink:1884 NAM 1 epidermolysis bullosa 3, progressiva ORG 1 Homo sapiens SYM 1 EBR3 ID|HUgn0001884 DID|LocusLink:1884 ORG|Homo sapiens SYM|EBR3 NAM|epidermolysis bullosa 3, progressiva SYN|ULG4 DBL|OMIM:226500 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118739 } # EOR GENR { RETE|ID 1 HUgn0001885 DID 1 LocusLink:1885 NAM 1 epidermolysis bullosa 4, pseudojunctional (intraepidermal) ORG 1 Homo sapiens SYM 1 EBR4 ID|HUgn0001885 DID|LocusLink:1885 ORG|Homo sapiens SYM|EBR4 NAM|epidermolysis bullosa 4, pseudojunctional (intraepidermal) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127832 } # EOR GENR { RETE|ID 1 HUgn0001886 CHR 1 8 DID 1 LocusLink:1886 MAP 1 8q24 NAM 1 epidermolysis bullosa simplex 1 (Ogna) ORG 1 Homo sapiens SYM 1 EBS1 ID|HUgn0001886 DID|LocusLink:1886 ORG|Homo sapiens SYM|EBS1 NAM|epidermolysis bullosa simplex 1 (Ogna) SYN|EBSO CHR|8 DBL|OMIM:131950 MAP|8q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119856 } # EOR GENR { RETE|ID 1 HUgn0001887 CHR 1 11 DID 1 LocusLink:1887 MAP 1 11q23.1 NAM 1 Epstein Barr virus modification site 1 ORG 1 Homo sapiens SYM 1 EBVM1 ID|HUgn0001887 DID|LocusLink:1887 ORG|Homo sapiens SYM|EBVM1 NAM|Epstein Barr virus modification site 1 CHR|11 PRD|Epstein-Barr virus modification site-1 DBL|OMIM:132860 MAP|11q23.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119103 } # EOR GENR { RETE|ID 1 HUgn0001888 CHR 1 1 DID 1 LocusLink:1888 MAP 1 1p35 NAM 1 Epstein Barr virus insertion site 1 ORG 1 Homo sapiens SYM 1 EBVS1 ID|HUgn0001888 DID|LocusLink:1888 ORG|Homo sapiens DBA|NA:K02579 SYM|EBVS1 NAM|Epstein Barr virus insertion site 1 CHR|1 PRD|Epstein-Barr virus integration site DBL|OMIM:132850 MAP|1p35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119858 } # EOR GENR { RETE|ID 1 HUgn0001889 CHR 1 1 DID 1 LocusLink:1889 MAP 1 1p36.1 NAM 1 endothelin converting enzyme 1 ORG 1 Homo sapiens SYM 1 ECE1 ID|HUgn0001889 DID|LocusLink:1889 ORG|Homo sapiens RSQ|REFSEQ:NM_001397 RPA|REFPROT:NP_001388 DBA|XM:NM_001397 |NA:AL031005 |NA:X91922 |NA:X91923 |NA:AB031742 |NA:BX648351 |NA:D43698 |NA:D49471 |NA:Z35307 |NA:none PAC|XP:NP_001388 SYM|ECE1 NAM|endothelin converting enzyme 1 SYN|ECE FNC|endothelin converting enzyme 1 |proteolysis and peptidolysis ; GO:0006508 |cell-cell signaling ; GO:0007267 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=232688 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1889[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698357 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001397 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001397 |http://www.geneclinics.org/query?mim=600423 DBL|UNIGENE:Hs.232688 |OMIM:600423 |SNP:1889 ENZ|EC:3.4.24.71 |zinc ion binding ; GO:0008270 |neprilysin activity ; GO:0004245 |hydrolase activity ; GO:0016787 |endothelin-converting enzyme 1 activity ; GO:0016512 MAP|1p36.1 PHP|Hirschsprung disease, cardiac defects, and autonomic dysfunction CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 1447; expect == 0.0; MEOW:ref|NP_446048.1| (95%) |species == Human; gene == ECE2; score == 984; expect == 0.0; MEOW:HUgn0009718 (63%) |species == Mouse; gene == Ece2; score == 964; expect == 0.0; MEOW:MGgn0003680 (62%) |species == Mosquito; gene == LOC10035; score == 664; expect == 0.0; MEOW:AGgn0010035 (45%) |species == Fruitfly; gene == Nep3; score == 656; expect == 0.0; MEOW:FBgn0031081 (43%) |species == Mosquito; score == 580; expect == 1e-165; MEOW:AGgn0025987 (42%) |species == Fruitfly; gene == Nep1; score == 559; expect == 1e-159; MEOW:FBgn0029843 (39%) |species == Mosquito; gene == LOC15756; score == 545; expect == 2e-155; MEOW:AGgn0015756 (41%) |species == Worm; gene == F18A12.8a; score == 529; expect == 2e-150; MEOW:CEgn0031940 (39%) |species == Worm; gene == F18A12.8b; score == 471; expect == 6e-133; MEOW:CEgn0031941 (39%) |species == Worm; gene == T05A8.4; score == 469; expect == 2e-132; MEOW:CEgn0015428 (36%) } # EOR GENR { RETE|ID 1 HUgn0001890 CHR 1 22 DID 1 LocusLink:1890 MAP 1 22q13 NAM 1 endothelial cell growth factor 1 (platelet-derived) ORG 1 Homo sapiens SYM 1 ECGF1 ID|HUgn0001890 DID|LocusLink:1890 ORG|Homo sapiens RSQ|REFSEQ:NM_001953 RPA|REFPROT:NP_001944 DBA|XM:NM_001953 |NA:M58602 |NA:U62317 |NA:AK057214 |NA:BC018160 |NA:BC052211 |NA:M63193 |NA:S72487 |NA:none PAC|XP:NP_001944 SYM|ECGF1 NAM|endothelial cell growth factor 1 (platelet-derived) SYN|TP |PDECGF |hPD-ECGF FNC|endothelial cell growth factor 1 (platelet-derived) |pyrimidine nucleotide metabolism ; GO:0006220 |mitochondrial genome maintenance ; GO:0000002 |DNA replication ; GO:0006260 |chemotaxis ; GO:0006935 |metabolism ; GO:0008152 |cell surface receptor linked signal transduction ; GO:0007166 |cell-cell signaling ; GO:0007267 |angiogenesis ; GO:0001525 |pyrimidine base metabolism ; GO:0006206 REAB|Platelet-derived endothelial cell growth factor (ECGF1) is an angiogenic factor which |promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of |endothelial cells. ECGF1 has a highly restricted target cell specificity acting |only on endothelial cells. Because it limits glial cell proliferation, ECGF1 is |also known as thymidine phosphorylase and as gliostatin. The ECGF1 gene contains |10 exons spanning more than 4.3 kb. Thymidine phosphorylase activity of ECGF1 in |leukocytes from mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients |was less than 5 percent of controls, indicating that loss-of-function mutations |in thymidine phosphorylase cause MNGIE. CHR|22 PRD|gliostatin |thymidine phosphorylase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435067 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1890[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127754 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001953 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001953 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435067 |http://www.geneclinics.org/query?mim=131222 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00240 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA153 DBL|UNIGENE:Hs.435067 |OMIM:131222 |SNP:1890 ENZ|EC:2.4.2.4 |thymidine phosphorylase activity ; GO:0009032 |platelet-derived growth factor receptor binding ; GO:0005161 |growth factor activity ; GO:0008083 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|22q13 PHP|Myoneurogastrointestinal encephalomyopathy syndrome CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Ecgf1; score == 730; expect == 0.0; MEOW:MGgn0022273 (83%) |species == rat; score == 688; expect == 0.0; MEOW:ref|XP_235562.2| (70%) |species == ecoli; score == 265; expect == 3.8e-72; MEOW:ref|NP_418799.1| (38%) } # EOR GENR { RETE|ID 1 HUgn0001891 CHR 1 19 DID 1 LocusLink:1891 MAP 1 19q13.1 NAM 1 enoyl Coenzyme A hydratase 1, peroxisomal ORG 1 Homo sapiens SYM 1 ECH1 ID|HUgn0001891 DID|LocusLink:1891 ORG|Homo sapiens RSQ|REFSEQ:NM_001398 RPA|REFPROT:NP_001389 DBA|XM:NM_001398 |NA:AF030249 |NA:BC011792 |NA:BC014786 |NA:BC017408 |NA:U16660 |NA:none PAC|XP:NP_001389 SYM|ECH1 NAM|enoyl Coenzyme A hydratase 1, peroxisomal SYN|HPXEL FNC|peroxisomal enoyl-coenzyme A hydratase-like protein |fatty acid beta-oxidation ; GO:0006635 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|This gene encodes a member of the hydratase/isomerase superfamily. The gene product |shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, |particularly within a conserved domain characteristic of these proteins. The encoded |protein, which contains a C-terminal peroxisomal targeting sequence, localizes to |the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome |and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, |indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions |in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the |rat gene is induced by peroxisome proliferators. CHR|19 PRD|dienoyl-CoA isomerase |peroxisomal enoyl-CoA hydratase 1 |delta3,5-delta2,4-dienoyl-CoA isomerase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=196176 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1891[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555696 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001398 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001398 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=196176 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00628 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00362 DBL|UNIGENE:Hs.196176 |OMIM:600696 |SNP:1891 MAP|19q13.1 ENZ|enoyl-CoA hydratase activity ; GO:0004300 |isomerase activity ; GO:0016853 CEL|peroxisome ; GO:0005777 |mitochondrion ; GO:0005739 HG|species == rat; score == 487; expect == 4e-138; MEOW:ref|NP_072116.1| (72%) |species == Mouse; gene == Ech1; score == 469; expect == 6e-133; MEOW:MGgn0013912 (71%) |species == Fruitfly; gene == CG9577; score == 261; expect == 1.7e-70; MEOW:FBgn0031092 (49%) |species == Mosquito; score == 256; expect == 1.2e-68; MEOW:AGgn0021099 (46%) |species == Worm; gene == Y25C1A.13; score == 246; expect == 1.1e-65; MEOW:CEgn0018128 (42%) |species == Worm; gene == F58A6.1; score == 232; expect == 1.7e-61; MEOW:CEgn0012309 (43%) |species == Weed; gene == At5g43280; score == 214; expect == 5.2e-56; MEOW:ATgn0022949 (44%) |species == rice; score == 198; expect == 6.5e-51; MEOW:gnl|TIGR|8350.m06564 (42%) } # EOR GENR { RETE|ID 1 HUgn0001892 CHR 1 10 DID 1 LocusLink:1892 MAP 1 10q26.2-q26.3 NAM 1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ORG 1 Homo sapiens SYM 1 ECHS1 ID|HUgn0001892 DID|LocusLink:1892 ORG|Homo sapiens RSQ|REFSEQ:NM_004092 RPA|REFPROT:NP_004083 DBA|XM:NM_004092 |NA:X98126 |NA:X98129 |NA:BC008906 |NA:BC013264 |NA:D13900 |NA:none PAC|XP:NP_004083 SYM|ECHS1 NAM|enoyl Coenzyme A hydratase, short chain, 1, mitochondrial SYN|SCEH FNC|mitochondrial short-chain enoyl-coenzyme A hydratase 1 precursor |fatty acid beta-oxidation ; GO:0006635 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|The protein encoded by this gene functions in the second step of the mitochondrial |fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme |A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the |hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript |variants utilizing alternative transcription initiation sites have been described |in the literature. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76394 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1892[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5203581 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004092 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004092 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76394 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.76394 |OMIM:602292 |SNP:1892 ENZ|EC:4.2.1.17 |enoyl-CoA hydratase activity ; GO:0004300 |lyase activity ; GO:0016829 MAP|10q26.2-q26.3 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 501; expect == 2e-142; MEOW:ref|NP_511178.1| (87%) |species == Mouse; gene == Echs1; score == 499; expect == 6e-142; MEOW:MGgn0038882 (87%) |species == Fruitfly; gene == CG6543; score == 320; expect == 4.4e-88; MEOW:FBgn0033879 (57%) |species == Mosquito; score == 318; expect == 1.6e-87; MEOW:AGgn0020199 (59%) |species == Mosquito; score == 318; expect == 1.6e-87; MEOW:AGgn0025974 (59%) |species == Worm; gene == T05G5.6; score == 312; expect == 1.2e-85; MEOW:CEgn0015532 (61%) |species == Worm; gene == Y105E8A.4; score == 281; expect == 2.0e-76; MEOW:CEgn0029911 (57%) |species == ecoli; score == 213; expect == 9.2e-57; MEOW:ref|NP_415911.1| (45%) |species == Weed; gene == At4g16800; score == 139; expect == 2.3e-33; MEOW:ATgn0017926 (34%) |species == Human; gene == AUH; score == 139; expect == 2.3e-33; MEOW:HUgn0000549 (30%) |species == rice; score == 136; expect == 4.3e-32; MEOW:gnl|TIGR|8351.m04118 (33%) } # EOR GENR { RETE|ID 1 HUgn0001893 CHR 1 1 DID 1 LocusLink:1893 MAP 1 1q21 NAM 1 extracellular matrix protein 1 ORG 1 Homo sapiens SYM 1 ECM1 ID|HUgn0001893 DID|LocusLink:1893 ORG|Homo sapiens RSQ|REFSEQ:NM_004425 |REFSEQ:NM_022664 RPA|REFPROT:NP_004416 |REFPROT:NP_073155 DBA|XM:NM_004425 |XM:NM_022664 |NA:U65938 |NA:AK097046 |NA:AK097205 |NA:BC023505 |NA:U65932 |NA:U68186 |NA:U68187 PAC|XP:NP_004416 |XP:NP_073155 SYM|ECM1 NAM|extracellular matrix protein 1 FNC|extracellular matrix protein 1 isoform 1 precursor |extracellular matrix protein 1 isoform 2 precursor REAB|This gene encodes an extracellular protein containing motifs with a cysteine pattern |characteristic of the cysteine pattern of the ligand-binding "double-loop" domains |of the albumin protein family. This gene maps outside of the epidermal differentiation |complex (EDC), a cluster of three gene families involved in epidermal differentiation. |Alternatively spliced transcript variants encoding distinct isoforms have been described. CHR|1 PRD|secretory component p85 |secretory component p85 precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81071 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1893[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3922327 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004425 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004425 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81071 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27598 DBL|UNIGENE:Hs.81071 |OMIM:602201 |SNP:1893 MAP|1q21 PHP|Lipoid proteinosis CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 769; expect == 0.0; MEOW:ref|XP_215645.2| (68%) |species == Mouse; gene == Ecm1; score == 757; expect == 0.0; MEOW:MGgn0003683 (66%) } # EOR GENR { RETE|ID 1 HUgn0001894 CHR 1 3 DID 1 LocusLink:1894 MAP 1 3q26.1-q26.2 NAM 1 epithelial cell transforming sequence 2 oncogene ORG 1 Homo sapiens SYM 1 ECT2 ID|HUgn0001894 DID|LocusLink:1894 ORG|Homo sapiens RSQ|REFSEQ:NM_018098 RPA|REFPROT:NP_060568 DBA|XM:NM_018098 |NA:AK001323 |NA:AK001515 |NA:AK023267 |NA:AK027713 |NA:AL137710 |NA:AY376439 |NA:BC006838 |NA:BC006987 |NA:none PAC|XP:NP_060568 SYM|ECT2 NAM|epithelial cell transforming sequence 2 oncogene SYN|FLJ10461 FNC|epithelial cell transforming sequence 2 oncogene protein |cell growth and/or maintenance ; GO:0008151 |intracellular signaling cascade ; GO:0007242 REAB|The protein encoded by this gene is a transforming protein that is related to Rho-specific |exchange factors and yeast cell cycle regulators. The expression of this gene is |elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. |In situ hybridization analysis showed that expression is at a high level in cells |undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell |cycle-dependent manner during liver regeneration, and is thought to have an important |role in the regulation of cytokinesis. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=293257 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1894[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228490 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_018098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_018098 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=293257 DBL|UNIGENE:Hs.293257 |OMIM:600586 |SNP:1894 MAP|3q26.1-q26.2 ENZ|guanyl-nucleotide exchange factor activity ; GO:0005085 CEL|intracellular ; GO:0005622 HG|species == rat; score == 1454; expect == 0.0; MEOW:ref|XP_342221.1| (86%) |species == Mouse; gene == Ect2; score == 1330; expect == 0.0; MEOW:MGgn0003687 (93%) |species == Mosquito; gene == LOC4440; score == 538; expect == 4e-153; MEOW:AGgn0004440 (38%) |species == Fruitfly; gene == pbl; score == 369; expect == 8e-102; MEOW:FBgn0003041 (38%) |species == Worm; gene == T19E10.1a; score == 172; expect == 5.1e-43; MEOW:CEgn0016400 (23%) |species == Worm; gene == T19E10.1b; score == 172; expect == 5.1e-43; MEOW:CEgn0016401 (23%) } # EOR GENR { RETE|ID 1 HUgn0001896 CHR 1 X DID 1 LocusLink:1896 MAP 1 Xq12-q13.1 NAM 1 ectodermal dysplasia 1, anhidrotic ORG 1 Homo sapiens SYM 1 ED1 ID|HUgn0001896 DID|LocusLink:1896 ORG|Homo sapiens RSQ|REFSEQ:NM_001399 RPA|REFPROT:NP_001390 DBA|XM:NM_001399 |NA:U59227 |NA:AF040628 |NA:AF060999 |NA:AF061189 |NA:U59228 |NA:none PAC|XP:NP_001390 SYM|ED1 NAM|ectodermal dysplasia 1, anhidrotic SYN|EDA |HED |EDA1 |XHED |XLHED FNC|ectodermal dysplasia 1, anhidrotic |ectoderm development ; GO:0007398 |embryogenesis and morphogenesis ; GO:0007345 |immune response ; GO:0006955 |signal transduction ; GO:0007165 |biological_process unknown ; GO:0000004 |cell differentiation ; GO:0030154 CHR|X PRD|ectodysplasin-A |ectodermal dysplasia, anhidrotic (hypohydrotic) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=105407 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1896[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119859 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001399 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001399 |http://www.geneclinics.org/query?mim=305100 DBL|UNIGENE:Hs.105407 |OMIM:300451 |SNP:1896 |UWCM:119859.html |IXDB:539601 MAP|Xq12-q13.1 PHP|Ectodermal dysplasia-1, anhidrotic ENZ|tumor necrosis factor receptor binding ; GO:0005164 |receptor binding ; GO:0005102 |molecular_function unknown ; GO:0005554 CEL|cytoskeleton ; GO:0005856 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Eda; score == 313; expect == 1.4e-85; MEOW:MGgn0003689 (99%) |species == rat; score == 171; expect == 5.4e-43; MEOW:ref|XP_228582.2| (100%) } # EOR GENR { RETE|ID 1 HUgn0001901 CHR 1 1 DID 1 LocusLink:1901 MAP 1 1p21 NAM 1 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 ORG 1 Homo sapiens SYM 1 EDG1 ID|HUgn0001901 DID|LocusLink:1901 ORG|Homo sapiens RSQ|REFSEQ:NM_001400 RPA|REFPROT:NP_001391 DBA|XM:NM_001400 |NA:AF022137 |NA:AF233365 |NA:BC018650 |NA:M31210 |NA:none PAC|XP:NP_001391 SYM|EDG1 NAM|endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 SYN|ECGF1 |CHEDG1 |D1S3362 FNC|endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |cell adhesion ; GO:0007155 REAB|The protein encoded by this gene is structurally similar to G protein-coupled receptors |and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate |with high affinity and high specificity, and suggested to be involved in the processes |that regulate the differentiation of endothelial cells. Activation of this receptor |induces cell-cell adhesion. CHR|1 PRD|edg-1 |sphingosine 1-phosphate receptor EDG1 |G protein-coupled sphingolipid receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154210 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1901[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837406 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001400 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001400 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154210 DBL|UNIGENE:Hs.154210 |OMIM:601974 |SNP:1901 MAP|1p21 CEL|integral to plasma membrane ; GO:0005887 ENZ|lysosphingolipid and lysophosphatidic acid receptor activity ; GO:0001619 HG|species == Mouse; gene == Edg1; score == 688; expect == 0.0; MEOW:MGgn0003691 (94%) |species == rat; score == 684; expect == 0.0; MEOW:ref|NP_058997.1| (93%) |species == Zfish; gene == edg1; score == 488; expect == 9e-140; MEOW:ZFgn0001977 (70%) |species == Human; gene == EDG3; score == 368; expect == 3e-102; MEOW:HUgn0001903 (58%) |species == Human; gene == EDG5; score == 328; expect == 3.6e-90; MEOW:HUgn0009294 (50%) |species == Human; gene == EDG8; score == 308; expect == 4.2e-84; MEOW:HUgn0053637 (47%) } # EOR GENR { RETE|ID 1 HUgn0001902 CHR 1 9 DID 1 LocusLink:1902 MAP 1 9q32 NAM 1 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2 ORG 1 Homo sapiens SYM 1 EDG2 ID|HUgn0001902 DID|LocusLink:1902 ORG|Homo sapiens RSQ|REFSEQ:NM_001401 |REFSEQ:NM_057159 RPA|REFPROT:NP_001392 |REFPROT:NP_476500 DBA|XM:NM_001401 |XM:NM_057159 |NA:AK022808 |NA:AY322546 |NA:BC030615 |NA:BC036034 |NA:BI461641 |NA:U78192 |NA:U80811 |NA:Y09479 |NA:none PAC|XP:NP_001392 |XP:NP_476500 SYM|EDG2 NAM|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2 SYN|LPA1 |edg-2 |vzg-1 |Gpcr26 |Mrec1.3 |rec.1.3 FNC|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2 |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) |receptor from a group known as EDG receptors. These receptors are members of the |G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG |receptors mediate diverse biologic functions, including proliferation, platelet |aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, |chemotaxis, and tumor cell invasion. Alternative splicing of this gene has been |observed and two transcript variants have been described, each encoding identical |proteins. An alternate translation start codon has been identified, which results |in isoforms differing in the N-terminal extracellular tail. In addition, an alternate |polyadenylation site has been reported. CHR|9 PRD|ventricular zone gene 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75794 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1902[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837415 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_057159 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_057159 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75794 DBL|UNIGENE:Hs.75794 |OMIM:602282 |SNP:1902 MAP|9q32 CEL|integral to plasma membrane ; GO:0005887 ENZ|lysosphingolipid and lysophosphatidic acid receptor activity ; GO:0001619 HG|species == rat; score == 701; expect == 0.0; MEOW:ref|XP_346741.1| (97%) |species == Mouse; gene == Edg2; score == 698; expect == 0.0; MEOW:MGgn0004876 (96%) |species == Human; gene == EDG4; score == 361; expect == 3e-100; MEOW:HUgn0009170 (57%) |species == Human; gene == EDG7; score == 359; expect == 1.2e-99; MEOW:HUgn0023566 (51%) |species == Zfish; gene == edg1; score == 237; expect == 4.5e-64; MEOW:ZFgn0001977 (39%) |species == Zfish; gene == edg5; score == 205; expect == 1.5e-54; MEOW:ZFgn0002447 (37%) |species == chimp; score == 125; expect == 7.0e-31; MEOW:sp|Q9TT23|MC5R_PANTR (28%) } # EOR GENR { RETE|ID 1 HUgn0001903 CHR 1 9 DID 1 LocusLink:1903 MAP 1 9q22.1-q22.2 NAM 1 endothelial differentiation, sphingolipid G-protein-coupled receptor, 3 ORG 1 Homo sapiens SYM 1 EDG3 ID|HUgn0001903 DID|LocusLink:1903 ORG|Homo sapiens RSQ|REFSEQ:NM_005226 RPA|REFPROT:NP_005217 DBA|XM:NM_005226 |NA:X83864 |NA:AF022139 |NA:AL832194 |NA:BC060827 |NA:none PAC|XP:NP_005217 SYM|EDG3 NAM|endothelial differentiation, sphingolipid G-protein-coupled receptor, 3 SYN|LPB3 |S1P3 |EDG-3 FNC|endothelial differentiation, sphingolipid G-protein-coupled receptor, 3 |cytosolic calcium ion concentration elevation ; GO:0007204 |positive regulation of cell proliferation ; GO:0008284 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |embryogenesis and morphogenesis ; GO:0007345 |inflammatory response ; GO:0006954 REAB|This gene encodes a member of the family I of the G protein-coupled receptors, as |well as the EDG family of proteins. This protein has been identified as a functional |receptor for sphingosine 1-phosphate and likely contributes to the regulation of |angiogenesis and vascular endothelial cell function. CHR|9 PRD|S1P receptor EDG3 |sphingosine 1-phosphate receptor 3 |G protein-coupled receptor, endothelial differentiation gene-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4257 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1903[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837420 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005226 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005226 DBL|UNIGENE:Hs.4257 |OMIM:601965 MAP|9q22.1-q22.2 ENZ|lipid binding ; GO:0008289 |lysosphingolipid and lysophosphatidic acid receptor activity ; GO:0001619 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 625; expect == 1e-179; MEOW:ref|XP_225216.2| (87%) |species == Mouse; gene == Edg3; score == 618; expect == 1e-177; MEOW:MGgn0003692 (87%) |species == Human; gene == EDG1; score == 368; expect == 3e-102; MEOW:HUgn0001901 (58%) |species == Zfish; gene == edg1; score == 368; expect == 1e-103; MEOW:ZFgn0001977 (55%) |species == Zfish; gene == edg5; score == 318; expect == 1.6e-88; MEOW:ZFgn0002447 (53%) |species == Human; gene == EDG8; score == 296; expect == 1.6e-80; MEOW:HUgn0053637 (46%) } # EOR GENR { RETE|ID 1 HUgn0001906 CHR 1 6 DID 1 LocusLink:1906 MAP 1 6p24.1 NAM 1 endothelin 1 ORG 1 Homo sapiens SYM 1 EDN1 ID|HUgn0001906 DID|LocusLink:1906 ORG|Homo sapiens RSQ|REFSEQ:NM_001955 RPA|REFPROT:NP_001946 DBA|XM:NM_001955 |NA:J05008 |NA:M25380 |NA:BC009720 |NA:BC036851 |NA:S56805 |NA:Y00749 |NA:none PAC|XP:NP_001946 SYM|EDN1 NAM|endothelin 1 SYN|ET1 FNC|endothelin 1 |regulation of blood pressure ; GO:0008217 |positive regulation of cell proliferation ; GO:0008284 |pathogenesis ; GO:0009405 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511899 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1906[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001955 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001955 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511899 DBL|UNIGENE:Hs.511899 |OMIM:131240 |SNP:1906 MAP|6p24.1 ENZ|toxin activity ; GO:0015070 |DNA binding ; GO:0003677 |peptide hormone ; GO:0005180 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == Mouse; gene == Edn1; score == 236; expect == 3.4e-63; MEOW:MGgn0003696 (69%) |species == rat; score == 229; expect == 8.2e-61; MEOW:ref|NP_036680.1| (68%) } # EOR GENR { RETE|ID 1 HUgn0001907 CHR 1 1 DID 1 LocusLink:1907 MAP 1 1p34 NAM 1 endothelin 2 ORG 1 Homo sapiens SYM 1 EDN2 ID|HUgn0001907 DID|LocusLink:1907 ORG|Homo sapiens RSQ|REFSEQ:NM_001956 RPA|REFPROT:NP_001947 DBA|XM:NM_001956 |NA:BC034393 |NA:M65199 |NA:X55177 |NA:none PAC|XP:NP_001947 SYM|EDN2 NAM|endothelin 2 SYN|ET2 FNC|endothelin 2 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |regulation of blood pressure ; GO:0008217 |pathogenesis ; GO:0009405 |protein kinase C activation ; GO:0007205 |cell-cell signaling ; GO:0007267 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1407 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1907[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125241 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001956 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001956 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1407 DBL|UNIGENE:Hs.1407 |OMIM:131241 |SNP:1907 MAP|1p34 ENZ|toxin activity ; GO:0015070 |growth factor activity ; GO:0008083 CEL|soluble fraction ; GO:0005625 HG|species == rat; score == 251; expect == 1.1e-67; MEOW:ref|NP_036681.1| (68%) |species == Mouse; gene == Edn2; score == 207; expect == 1.6e-54; MEOW:MGgn0003697 (70%) } # EOR GENR { RETE|ID 1 HUgn0001908 CHR 1 20 DID 1 LocusLink:1908 MAP 1 20q13.2-q13.3 NAM 1 endothelin 3 ORG 1 Homo sapiens SYM 1 EDN3 ID|HUgn0001908 DID|LocusLink:1908 ORG|Homo sapiens RSQ|REFSEQ:NM_000114 RPA|REFPROT:NP_000105 DBA|XM:NM_000114 |NA:M25551 |NA:BC008876 |NA:BC053866 |NA:J05081 |NA:X52001 |NA:none PAC|XP:NP_000105 SYM|EDN3 NAM|endothelin 3 SYN|ET3 FNC|endothelin 3 precursor |hearing ; GO:0007605 |regulation of blood pressure ; GO:0008217 |pathogenesis ; GO:0009405 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Interaction of EDN3 with the endothelin-B receptor is essential in the development |of neural crest-derived cell lineages. Defects in the human EDN3 gene cause Waardenburg-Hirschsprung |disease. O'Reilly et al. identified EDN3 splice variants, but the respective functions |of the variants are not well understood. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1408 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1908[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119862 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000114 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000114 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1408 |http://www.geneclinics.org/query?mim=131242 DBL|UNIGENE:Hs.1408 |OMIM:131242 |SNP:1908 |UWCM:119862.html MAP|20q13.2-q13.3 PHP|Central hypoventilation syndrome, congenital |Hirschsprung disease |Shah-Waardenburg syndrome ENZ|toxin activity ; GO:0015070 |receptor binding ; GO:0005102 CEL|soluble fraction ; GO:0005625 HG|species == Mouse; gene == Edn3; score == 246; expect == 6.8e-66; MEOW:MGgn0003698 (64%) } # EOR GENR { RETE|ID 1 HUgn0001909 CHR 1 4 DID 1 LocusLink:1909 MAP 1 4q31.22 NAM 1 endothelin receptor type A ORG 1 Homo sapiens SYM 1 EDNRA ID|HUgn0001909 DID|LocusLink:1909 ORG|Homo sapiens RSQ|REFSEQ:NM_001957 RPA|REFPROT:NP_001948 DBA|XM:NM_001957 |NA:D11151 |NA:AY275462 |NA:BC022511 |NA:D90348 |NA:L06622 |NA:S45956 |NA:S57498 |NA:S63938 |NA:S67127 |NA:S81539 |NA:S81542 |NA:S81545 |NA:X61950 PAC|XP:NP_001948 SYM|EDNRA NAM|endothelin receptor type A SYN|ETA |ETRA FNC|endothelin receptor type A |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |cytosolic calcium ion concentration elevation ; GO:0007204 |phospholipase C activation ; GO:0007202 |adenylate cyclase activation ; GO:0007190 |smooth muscle contraction ; GO:0006939 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=211202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1909[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129028 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001957 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001957 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=211202 DBL|UNIGENE:Hs.211202 |OMIM:131243 |SNP:1909 MAP|4q31.22 PHP|Endothelin A receptor;binds endothelins, induces intracellular calcium flux and arachidonic acid accumulation; member of the G protein-coupled receptor family ENZ|endothelin receptor activity ; GO:0004962 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ednra; score == 771; expect == 0.0; MEOW:MGgn0003699 (92%) |species == rat; score == 761; expect == 0.0; MEOW:ref|NP_036682.1| (92%) |species == Zfish; gene == ednrb1; score == 461; expect == 3e-130; MEOW:ZFgn0000027 (68%) |species == Human; gene == EDNRB; score == 452; expect == 2e-127; MEOW:HUgn0001910 (63%) |species == Fruitfly; gene == CG30106; score == 133; expect == 9.7e-32; MEOW:FBgn0050106 (29%) } # EOR GENR { RETE|ID 1 HUgn0001910 CHR 1 13 DID 1 LocusLink:1910 MAP 1 13q22 NAM 1 endothelin receptor type B ORG 1 Homo sapiens SYM 1 EDNRB ID|HUgn0001910 DID|LocusLink:1910 ORG|Homo sapiens RSQ|REFSEQ:NM_000115 |REFSEQ:NM_003991 RPA|REFPROT:NP_000106 |REFPROT:NP_003982 DBA|XM:NM_000115 |XM:NM_003991 |NA:D13162 |NA:D13163 |NA:D13164 |NA:D13165 |NA:D13166 |NA:D13167 |NA:D13168 |NA:AF114165 |NA:AY275463 |NA:BC014472 |NA:D90402 |NA:L06623 |NA:M74921 |NA:S44866 |NA:S57283 |NA:X99250 |NA:none PAC|XP:NP_000106 |XP:NP_003982 SYM|EDNRB NAM|endothelin receptor type B SYN|ETB |ETRB |HSCR |ABCDS |HSCR2 FNC|endothelin receptor type B isoform 1 |endothelin receptor type B isoform 2 |negative regulation of adenylate cyclase activity ; GO:0007194 |hearing ; GO:0007605 |G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) ; GO:0007200 |neurogenesis ; GO:0007399 REAB|Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinoitol-calcium |second messenger system. Its ligand, endothelin, consists of a family of three potent |vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, |Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene. | A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor |is identical to ETRB except for the intracellular C-terminal domain. While both |splice variants bind ET1, they exhibit different responses upon binding which suggests |that they may be functionally distinct. CHR|13 PRD|Hirschsprung disease 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82002 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1910[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129075 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000115 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000115 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82002 |http://www.geneclinics.org/query?mim=131244 DBL|UNIGENE:Hs.82002 |OMIM:131244 |SNP:1910 |UWCM:129075.html MAP|13q22 PHP|ABCD syndrome |Hirschsprung disease-2 ENZ|endothelin receptor activity ; GO:0004962 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ednrb; score == 766; expect == 0.0; MEOW:MGgn0003700 (88%) |species == Zfish; gene == ednrb1; score == 568; expect == 2e-162; MEOW:ZFgn0000027 (78%) |species == rat; score == 454; expect == 4e-128; MEOW:ref|NP_036682.1| (63%) |species == Human; gene == EDNRA; score == 452; expect == 2e-127; MEOW:HUgn0001909 (63%) |species == Fruitfly; gene == CG30106; score == 136; expect == 1.6e-32; MEOW:FBgn0050106 (32%) } # EOR GENR { RETE|ID 1 HUgn0001911 CHR 1 12 DID 1 LocusLink:1911 MAP 1 12p13 NAM 1 polyhomeotic-like 1 (Drosophila) ORG 1 Homo sapiens SYM 1 PHC1 ID|HUgn0001911 DID|LocusLink:1911 ORG|Homo sapiens RSQ|REFSEQ:NM_004426 RPA|REFPROT:NP_004417 DBA|XM:NM_004426 |NA:AB018192 |NA:AB018193 |NA:BC002871 |NA:BC017748 |NA:BX640639 |NA:U89277 |NA:none PAC|XP:NP_004417 SYM|PHC1 NAM|polyhomeotic-like 1 (Drosophila) SYN|EDR1 |HPH1 |RAE28 FNC|polyhomeotic 1-like |'de novo' pyrimidine base biosynthesis ; GO:0006207 |development ; GO:0007275 REAB|This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of |the Polycomb group of genes. The gene product is a component of a multimeric protein |complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, |the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved |domains, named homology domains I and II. These domains are involved in protein-protein |interactions and may mediate heterodimerization of the protein encoded by this gene |and the EDR2 protein. CHR|12 PRD|mouse Rae28-like |polyhomeotic 1-like |early development regulator 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=305985 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1911[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7016778 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004426 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004426 DBL|UNIGENE:Hs.305985 |OMIM:602978 |SNP:1911 MAP|12p13 ENZ|protein binding ; GO:0005515 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 |aspartate carbamoyltransferase complex ; GO:0009347 HG|species == Human; gene == LOC283368; score == 863; expect == 0.0; MEOW:HUgn0283368 (98%) |species == rat; score == 772; expect == 0.0; MEOW:ref|XP_232336.2| (89%) |species == Mouse; gene == Edr1; score == 762; expect == 0.0; MEOW:MGgn0003701 (88%) |species == Zfish; gene == edr2; score == 239; expect == 6.1e-63; MEOW:ZFgn0002470 (37%) } # EOR GENR { RETE|ID 1 HUgn0001912 CHR 1 1 DID 1 LocusLink:1912 MAP 1 1p34.3 NAM 1 polyhomeotic-like 2 (Drosophila) ORG 1 Homo sapiens SYM 1 PHC2 ID|HUgn0001912 DID|LocusLink:1912 ORG|Homo sapiens RSQ|REFSEQ:NM_004427 |REFSEQ:NM_198040 RPA|REFPROT:NP_004418 |REFPROT:NP_932157 DBA|XM:NM_004427 |NA:AJ419231 |NA:AK056429 |NA:AK128821 |NA:BC015450 |NA:BC018602 |NA:BC028396 |NA:BC029269 |NA:CD109667 |NA:U89278 PAC|XP:NP_004418 SYM|PHC2 NAM|polyhomeotic-like 2 (Drosophila) SYN|EDR2 |HPH2 FNC|polyhomeotic 2-like isoform a |polyhomeotic 2-like isoform b REAB|In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular |memory system that is responsible for the stable inheritance of gene activity. PcG |proteins form a large multimeric, chromatin-associated protein complex. The protein |encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) |and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase |nuclei of human cells. The specific function in human cells has not yet been determined. |Two transcript variants encoding different isoforms have been found for this gene. CHR|1 PRD|early development regulator 2-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=165263 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1912[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7016779 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198040 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198040 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=165263 DBL|UNIGENE:Hs.165263 |OMIM:602979 |SNP:1912 MAP|1p34.3 HG|species == rat; score == 474; expect == 6e-134; MEOW:ref|XP_232751.2| (77%) |species == Mouse; gene == Phc2; score == 447; expect == 2e-125; MEOW:MGgn0014267 (77%) |species == Zfish; gene == edr2; score == 284; expect == 1.3e-76; MEOW:ZFgn0002470 (52%) |species == Human; gene == PHC1; score == 206; expect == 2.7e-53; MEOW:HUgn0001911 (45%) |species == Human; gene == LOC283368; score == 206; expect == 5.4e-53; MEOW:HUgn0283368 (44%) } # EOR GENR { RETE|ID 1 HUgn0001913 CHR 1 7 DID 1 LocusLink:1913 MAP 1 7q11.2-q21.3 NAM 1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 ORG 1 Homo sapiens SYM 1 EEC1 ID|HUgn0001913 DID|LocusLink:1913 ORG|Homo sapiens SYM|EEC1 NAM|ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 SYN|EEC CHR|7 PRD|Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 DBL|OMIM:129900 MAP|7q11.2-q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136338 |http://www.geneclinics.org/query?mim=129900 } # EOR GENR { RETE|ID 1 HUgn0001914 CHR 1 19 DID 1 LocusLink:1914 MAP 1 19 NAM 1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 ORG 1 Homo sapiens SYM 1 EEC2 ID|HUgn0001914 DID|LocusLink:1914 ORG|Homo sapiens SYM|EEC2 NAM|ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 CHR|19 DBL|OMIM:602077 MAP|19 PHP|Ectrodactyly, ectodermal dysplasia, cleft lip/palate-2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9837796 |http://www.geneclinics.org/query?mim=602077 } # EOR GENR { RETE|ID 1 HUgn0001915 CHR 1 6 DID 1 LocusLink:1915 MAP 1 6q14.1 NAM 1 eukaryotic translation elongation factor 1 alpha 1 ORG 1 Homo sapiens SYM 1 EEF1A1 ID|HUgn0001915 DID|LocusLink:1915 ORG|Homo sapiens RSQ|REFSEQ:NM_001402 RPA|REFPROT:NP_001393 DBA|XM:NM_001402 |NA:J04617 |NA:AF174496 |NA:AF328730 |NA:AF397403 |NA:AJ420488 |NA:AK024888 |NA:AK026650 |NA:AK055058 |NA:AK058051 |NA:AK058082 |NA:AK058163 |NA:AK098510 |NA:AK098518 |NA:AK098623 |NA:AK127384 |NA:AY043301 |NA:AY062434 |NA:BC008587 |NA:BC009733 |NA:BC009875 |NA:BC010735 |NA:BC012509 |NA:BC012891 |NA:BC014224 |NA:BC014377 |NA:BC014892 |NA:BC018150 |NA:BC018641 |NA:BC018850 |NA:BC019050 |NA:BC019669 |NA:BC020477 |NA:BC021686 |NA:BC022412 |NA:BC028674 |NA:BC029337 |NA:BC029343 |NA:BC029997 |NA:BC035877 |NA:BC038339 |NA:BC057391 |NA:M27364 |NA:M29548 |NA:X03558 |NA:X16869 PAC|XP:NP_001393 SYM|EEF1A1 NAM|eukaryotic translation elongation factor 1 alpha 1 SYN|EF1A |PTI1 |EEF-1 |EEF1A |EF-Tu |PTI-1 |eEF1A-1 |GRAF-1EF |MGC16224 |EEF1A1L14 FNC|eukaryotic translation elongation factor 1 alpha 1 |translational elongation ; GO:0006414 |regulation of cell shape ; GO:0008360 |regulation of translation ; GO:0006445 |oncogenesis ; GO:0007048 REAB|This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, |which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. |This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and |pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal |muscle. This isoform is identified as an autoantigen in 66% of patients with Felty's |syndrome. This gene has been found to have multiple copies on many chromosomes, |some of which, if not all, represent different pseudogenes. CHR|6 PRD|EF1a-like protein |CTCL tumor antigen |elongation factor Tu |elongation factor 1-alpha |elongation factor 1 alpha subunit |prostate tumor-inducing protein 1 |translation elongation factor 1 alpha 1-like 14 |glucocorticoid receptor AF-1 specific elongation factor |eukaryotic translation elongation factor 1 alpha 1-like 14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439552 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1915[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118791 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001402 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001402 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439552 DBL|UNIGENE:Hs.439552 |OMIM:130590 |SNP:1915 MAP|6q14.1 ENZ|GTP binding ; GO:0005525 CEL|eukaryotic translation elongation factor 1 complex ; GO:0005853 |cytoplasm ; GO:0005737 HG|species == rat; score == 885; expect == 0.0; MEOW:ref|NP_787032.1| (99%) |species == rat; score == 885; expect == 0.0; MEOW:ref|XP_215242.2| (99%) |species == Mouse; gene == Eef1a1; score == 883; expect == 0.0; MEOW:MGgn0003709 (99%) |species == Human; gene == EEF1A2; score == 870; expect == 0.0; MEOW:HUgn0001917 (92%) |species == Mouse; gene == Eef1a2; score == 869; expect == 0.0; MEOW:MGgn0003710 (92%) |species == rat; score == 865; expect == 0.0; MEOW:ref|NP_036792.1| (92%) |species == Zfish; gene == ef1a; score == 863; expect == 0.0; MEOW:ZFgn0000307 (91%) |species == Mosquito; gene == LOC10498; score == 809; expect == 0.0; MEOW:AGgn0010498 (85%) |species == Mosquito; gene == LOC23203; score == 809; expect == 0.0; MEOW:AGgn0023203 (85%) |species == Fruitfly; gene == Ef1&agr;100E; score == 804; expect == 0.0; MEOW:FBgn0000557 (84%) |species == Mosquito; score == 795; expect == 0.0; MEOW:AGgn0018372 (87%) |species == Worm; gene == eft-3; score == 792; expect == 0.0; MEOW:CEgn0000476 (83%) |species == Worm; gene == eft-4; score == 792; expect == 0.0; MEOW:CEgn0000477 (83%) |species == Fruitfly; gene == Ef1&agr;48D; score == 781; expect == 0.0; MEOW:FBgn0000556 (85%) |species == rat; score == 749; expect == 0.0; MEOW:ref|XP_221348.2| (89%) |species == Yeast; gene == TEF2; score == 748; expect == 0.0; MEOW:SGgn0000322 (81%) |species == Yeast; gene == TEF1; score == 748; expect == 0.0; MEOW:SGgn0006284 (81%) |species == rat; score == 725; expect == 0.0; MEOW:ref|XP_213914.2| (85%) |species == rice; score == 699; expect == 0.0; MEOW:gnl|TIGR|8360.m00694 (78%) |species == rice; score == 699; expect == 0.0; MEOW:gnl|TIGR|8360.m00695 (78%) |species == rice; score == 699; expect == 0.0; MEOW:gnl|TIGR|8360.m00698 (78%) |species == Weed; gene == At1g07920; score == 690; expect == 0.0; MEOW:ATgn0001964 (76%) |species == Weed; gene == At1g07930; score == 690; expect == 0.0; MEOW:ATgn0001965 (76%) |species == Weed; gene == At1g07940; score == 690; expect == 0.0; MEOW:ATgn0001966 (76%) |species == Weed; gene == At5g60390; score == 690; expect == 0.0; MEOW:ATgn0026754 (76%) |species == rice; score == 609; expect == 9e-175; MEOW:gnl|TIGR|8360.m00699 (76%) |species == ecoli; score == 146; expect == 4.2e-36; MEOW:ref|NP_417798.1| (30%) |species == ecoli; score == 146; expect == 4.2e-36; MEOW:ref|NP_418407.1| (30%) |species == ecoli; score == 144; expect == 1.4e-34; MEOW:ref|NP_417231.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0001917 CHR 1 20 DID 1 LocusLink:1917 MAP 1 20q13.3 NAM 1 eukaryotic translation elongation factor 1 alpha 2 ORG 1 Homo sapiens SYM 1 EEF1A2 ID|HUgn0001917 DID|LocusLink:1917 ORG|Homo sapiens RSQ|REFSEQ:NM_001958 RPA|REFPROT:NP_001949 DBA|XM:NM_001958 |NA:AF163763 |NA:AL121829 |NA:BC000432 |NA:BC018855 |NA:L10340 |NA:X70940 |NA:none PAC|XP:NP_001949 SYM|EEF1A2 NAM|eukaryotic translation elongation factor 1 alpha 2 SYN|HS1 |STN |EF1A |EEF1AL |EF-1-alpha-2 FNC|eukaryotic translation elongation factor 1 alpha 2 |translational elongation ; GO:0006414 REAB|This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, |which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. |This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the |other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and |pancreas. This gene may be critical in the development of ovarian cancer. CHR|20 PRD|statin S1 |elongation factor-1 alpha |elongation factor 1-alpha 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433839 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1917[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:574205 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001958 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001958 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433839 DBL|UNIGENE:Hs.433839 |OMIM:602959 |SNP:1917 MAP|20q13.3 ENZ|GTP binding ; GO:0005525 |translation elongation factor activity ; GO:0003746 |protein-synthesizing GTPase activity ; GO:0008547 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Eef1a2; score == 931; expect == 0.0; MEOW:MGgn0003710 (99%) |species == rat; score == 927; expect == 0.0; MEOW:ref|NP_036792.1| (99%) |species == Human; gene == EEF1A1; score == 870; expect == 0.0; MEOW:HUgn0001915 (92%) |species == rat; score == 869; expect == 0.0; MEOW:ref|NP_787032.1| (92%) |species == rat; score == 869; expect == 0.0; MEOW:ref|XP_215242.2| (92%) |species == Mouse; gene == Eef1a1; score == 866; expect == 0.0; MEOW:MGgn0003709 (92%) |species == Zfish; gene == ef1a; score == 855; expect == 0.0; MEOW:ZFgn0000307 (90%) |species == Mosquito; gene == LOC10498; score == 810; expect == 0.0; MEOW:AGgn0010498 (85%) |species == Mosquito; gene == LOC23203; score == 810; expect == 0.0; MEOW:AGgn0023203 (85%) |species == Mosquito; score == 807; expect == 0.0; MEOW:AGgn0018372 (84%) |species == Fruitfly; gene == Ef1&agr;100E; score == 798; expect == 0.0; MEOW:FBgn0000557 (83%) |species == Worm; gene == eft-3; score == 795; expect == 0.0; MEOW:CEgn0000476 (84%) |species == Worm; gene == eft-4; score == 795; expect == 0.0; MEOW:CEgn0000477 (84%) |species == Fruitfly; gene == Ef1&agr;48D; score == 792; expect == 0.0; MEOW:FBgn0000556 (82%) |species == Yeast; gene == TEF2; score == 758; expect == 0.0; MEOW:SGgn0000322 (79%) |species == Yeast; gene == TEF1; score == 758; expect == 0.0; MEOW:SGgn0006284 (79%) |species == rice; score == 709; expect == 0.0; MEOW:gnl|TIGR|8360.m00694 (77%) |species == rice; score == 709; expect == 0.0; MEOW:gnl|TIGR|8360.m00695 (77%) |species == rice; score == 709; expect == 0.0; MEOW:gnl|TIGR|8360.m00698 (77%) |species == Weed; gene == At1g07920; score == 695; expect == 0.0; MEOW:ATgn0001964 (75%) |species == Weed; gene == At1g07930; score == 695; expect == 0.0; MEOW:ATgn0001965 (75%) |species == Weed; gene == At1g07940; score == 695; expect == 0.0; MEOW:ATgn0001966 (75%) |species == Weed; gene == At5g60390; score == 695; expect == 0.0; MEOW:ATgn0026754 (75%) |species == rice; score == 620; expect == 1e-177; MEOW:gnl|TIGR|8360.m00699 (75%) |species == ecoli; score == 153; expect == 2.0e-38; MEOW:ref|NP_417798.1| (28%) |species == ecoli; score == 153; expect == 2.0e-38; MEOW:ref|NP_418407.1| (28%) |species == ecoli; score == 150; expect == 2.2e-37; MEOW:ref|NP_417231.1| (27%) } # EOR GENR { RETE|ID 1 HUgn0001918 DID 1 LocusLink:1918 NAM 1 eukaryotic translation elongation factor 1 alpha 3 ORG 1 Homo sapiens SYM 1 EEF1A3 ID|HUgn0001918 DID|LocusLink:1918 ORG|Homo sapiens SYM|EEF1A3 NAM|eukaryotic translation elongation factor 1 alpha 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834654 } # EOR GENR { RETE|ID 1 HUgn0001919 CHR 1 13 DID 1 LocusLink:1919 MAP 1 13q21 NAM 1 eukaryotic translation elongation factor 1 alpha-like 1 ORG 1 Homo sapiens SYM 1 EEF1AL1 ID|HUgn0001919 DID|LocusLink:1919 ORG|Homo sapiens SYM|EEF1AL1 NAM|eukaryotic translation elongation factor 1 alpha-like 1 SYN|EEF1AL CHR|13 MAP|13q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134714 } # EOR GENR { RETE|ID 1 HUgn0001920 CHR 1 12 DID 1 LocusLink:1920 MAP 1 12p12.3-p12.1 NAM 1 eukaryotic translation elongation factor 1 alpha-like 2 ORG 1 Homo sapiens SYM 1 EEF1AL2 ID|HUgn0001920 DID|LocusLink:1920 ORG|Homo sapiens SYM|EEF1AL2 NAM|eukaryotic translation elongation factor 1 alpha-like 2 CHR|12 MAP|12p12.3-p12.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625803 } # EOR GENR { RETE|ID 1 HUgn0001921 CHR 1 9 DID 1 LocusLink:1921 MAP 1 9q34.12-q34.2 NAM 1 eukaryotic translation elongation factor 1 alpha-like 3 ORG 1 Homo sapiens SYM 1 EEF1AL3 ID|HUgn0001921 DID|LocusLink:1921 ORG|Homo sapiens SYM|EEF1AL3 NAM|eukaryotic translation elongation factor 1 alpha-like 3 CHR|9 MAP|9q34.12-q34.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625804 } # EOR GENR { RETE|ID 1 HUgn0001922 CHR 1 7 DID 1 LocusLink:1922 MAP 1 7p21.1-p15.2 NAM 1 eukaryotic translation elongation factor 1 alpha-like 4 ORG 1 Homo sapiens SYM 1 EEF1AL4 ID|HUgn0001922 DID|LocusLink:1922 ORG|Homo sapiens SYM|EEF1AL4 NAM|eukaryotic translation elongation factor 1 alpha-like 4 CHR|7 MAP|7p21.1-p15.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625805 } # EOR GENR { RETE|ID 1 HUgn0001923 CHR 1 19 DID 1 LocusLink:1923 MAP 1 19q13.12-q13.2 NAM 1 eukaryotic translation elongation factor 1 alpha-like 5 ORG 1 Homo sapiens SYM 1 EEF1AL5 ID|HUgn0001923 DID|LocusLink:1923 ORG|Homo sapiens SYM|EEF1AL5 NAM|eukaryotic translation elongation factor 1 alpha-like 5 CHR|19 MAP|19q13.12-q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625806 } # EOR GENR { RETE|ID 1 HUgn0001924 CHR 1 3 DID 1 LocusLink:1924 MAP 1 3q26.3-q27.1 NAM 1 eukaryotic translation elongation factor 1 alpha-like 6 ORG 1 Homo sapiens SYM 1 EEF1AL6 ID|HUgn0001924 DID|LocusLink:1924 ORG|Homo sapiens SYM|EEF1AL6 NAM|eukaryotic translation elongation factor 1 alpha-like 6 CHR|3 MAP|3q26.3-q27.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625807 } # EOR GENR { RETE|ID 1 HUgn0001925 DID 1 LocusLink:1925 NAM 1 eukaryotic translation elongation factor 1 alpha-like 7 ORG 1 Homo sapiens SYM 1 EEF1AL7 ID|HUgn0001925 DID|LocusLink:1925 ORG|Homo sapiens SYM|EEF1AL7 NAM|eukaryotic translation elongation factor 1 alpha-like 7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625808 } # EOR GENR { RETE|ID 1 HUgn0001926 CHR 1 7 DID 1 LocusLink:1926 MAP 1 7q33-q35 NAM 1 eukaryotic translation elongation factor 1 alpha-like 8 ORG 1 Homo sapiens SYM 1 EEF1AL8 ID|HUgn0001926 DID|LocusLink:1926 ORG|Homo sapiens SYM|EEF1AL8 NAM|eukaryotic translation elongation factor 1 alpha-like 8 CHR|7 MAP|7q33-q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625809 } # EOR GENR { RETE|ID 1 HUgn0001927 CHR 1 1 DID 1 LocusLink:1927 MAP 1 1p22.2-p13.3 NAM 1 eukaryotic translation elongation factor 1 alpha-like 9 ORG 1 Homo sapiens SYM 1 EEF1AL9 ID|HUgn0001927 DID|LocusLink:1927 ORG|Homo sapiens SYM|EEF1AL9 NAM|eukaryotic translation elongation factor 1 alpha-like 9 CHR|1 MAP|1p22.2-p13.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625810 } # EOR GENR { RETE|ID 1 HUgn0001928 CHR 1 2 DID 1 LocusLink:1928 MAP 1 2q12.2-q14.1 NAM 1 eukaryotic translation elongation factor 1 alpha-like 10 ORG 1 Homo sapiens SYM 1 EEF1AL10 ID|HUgn0001928 DID|LocusLink:1928 ORG|Homo sapiens SYM|EEF1AL10 NAM|eukaryotic translation elongation factor 1 alpha-like 10 CHR|2 MAP|2q12.2-q14.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625811 } # EOR GENR { RETE|ID 1 HUgn0001930 CHR 1 1 DID 1 LocusLink:1930 MAP 1 1q31.1-q32.1 NAM 1 eukaryotic translation elongation factor 1 alpha-like 12 ORG 1 Homo sapiens SYM 1 EEF1AL12 ID|HUgn0001930 DID|LocusLink:1930 ORG|Homo sapiens SYM|EEF1AL12 NAM|eukaryotic translation elongation factor 1 alpha-like 12 CHR|1 MAP|1q31.1-q32.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625813 } # EOR GENR { RETE|ID 1 HUgn0001931 CHR 1 X DID 1 LocusLink:1931 MAP 1 Xq21.2-q21.32 NAM 1 eukaryotic translation elongation factor 1 alpha-like 13 ORG 1 Homo sapiens SYM 1 EEF1AL13 ID|HUgn0001931 DID|LocusLink:1931 ORG|Homo sapiens SYM|EEF1AL13 NAM|eukaryotic translation elongation factor 1 alpha-like 13 CHR|X MAP|Xq21.2-q21.32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:625814 } # EOR GENR { RETE|ID 1 HUgn0001932 CHR 1 15 DID 1 LocusLink:1932 MAP 1 15 NAM 1 eukaryotic translation elongation factor 1 beta 1 ORG 1 Homo sapiens SYM 1 EEF1B1 ID|HUgn0001932 DID|LocusLink:1932 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC025917 SYM|EEF1B1 NAM|eukaryotic translation elongation factor 1 beta 1 SYN|EF1B CHR|15 DBL|OMIM:130591 MAP|15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:682447 } # EOR GENR { RETE|ID 1 HUgn0001933 CHR 1 2 DID 1 LocusLink:1933 MAP 1 2q33-q34 NAM 1 eukaryotic translation elongation factor 1 beta 2 ORG 1 Homo sapiens SYM 1 EEF1B2 ID|HUgn0001933 DID|LocusLink:1933 ORG|Homo sapiens RSQ|REFSEQ:NM_001959 |REFSEQ:NM_021121 RPA|REFPROT:NP_001950 |REFPROT:NP_066944 DBA|XM:NM_001959 |XM:NM_021121 |NA:BC000211 |NA:BC004931 |NA:BC029316 |NA:S81522 |NA:X60489 |NA:X60656 |NA:none PAC|XP:NP_001950 |XP:NP_066944 SYM|EEF1B2 NAM|eukaryotic translation elongation factor 1 beta 2 SYN|EF1B |EEF1B |EEF1B1 FNC|eukaryotic translation elongation factor 1 beta 2 |translational elongation ; GO:0006414 REAB|This gene encodes a translation elongation factor. The protein is a guanine nucleotide |exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. |Alternative splicing results in two transcript variants which differ only in the |5' UTR. CHR|2 PRD|eukaryotic translation elongation factor 1 beta 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421608 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1933[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:682589 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001959 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001959 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421608 DBL|UNIGENE:Hs.421608 |OMIM:600655 |SNP:1933 MAP|2q33-q34 ENZ|translation elongation factor activity ; GO:0003746 CEL|eukaryotic translation elongation factor 1 complex ; GO:0005853 HG|species == Human; gene == LOC154995; score == 359; expect == 8e-100; MEOW:HUgn0154995 (88%) |species == rat; score == 357; expect == 2.2e-99; MEOW:ref|XP_343581.1| (94%) |species == Mouse; gene == Eef1b2; score == 355; expect == 9.4e-99; MEOW:MGgn0028155 (95%) |species == Mosquito; gene == LOC17979; score == 224; expect == 2.1e-59; MEOW:AGgn0017979 (60%) |species == Mosquito; score == 224; expect == 2.1e-59; MEOW:AGgn0025422 (60%) |species == Fruitfly; gene == Ef1&bgr;; score == 223; expect == 8.1e-59; MEOW:FBgn0028737 (57%) |species == Worm; gene == F54H12.6; score == 159; expect == 6.1e-40; MEOW:CEgn0011858 (42%) |species == rice; score == 150; expect == 1.5e-36; MEOW:gnl|TIGR|8355.m04466 (42%) |species == Yeast; gene == EFB1; score == 142; expect == 9.5e-35; MEOW:SGgn0000003 (46%) |species == Worm; gene == Y41E3.10; score == 137; expect == 6.7e-33; MEOW:CEgn0018577 (65%) |species == Weed; gene == At5g19510; score == 136; expect == 7.9e-33; MEOW:ATgn0025030 (39%) } # EOR GENR { RETE|ID 1 HUgn0001934 CHR 1 5 DID 1 LocusLink:1934 MAP 1 5q13.1 NAM 1 eukaryotic translation elongation factor 1 beta 3 ORG 1 Homo sapiens SYM 1 EEF1B3 ID|HUgn0001934 DID|LocusLink:1934 CLA|Pseudogene ORG|Homo sapiens DBA|NA:L26404 SYM|EEF1B3 NAM|eukaryotic translation elongation factor 1 beta 3 SYN|BETA |EEF-1 |EEF1B |GAMMA |BETA-3 |EEF-1BETA5A CHR|5 DBL|OMIM:600656 |SNP:1934 MAP|5q13.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:126414 } # EOR GENR { RETE|ID 1 HUgn0001935 CHR 1 X DID 1 LocusLink:1935 MAP 1 X NAM 1 eukaryotic translation elongation factor 1 beta 4 ORG 1 Homo sapiens SYM 1 EEF1B4 ID|HUgn0001935 DID|LocusLink:1935 ORG|Homo sapiens SYM|EEF1B4 NAM|eukaryotic translation elongation factor 1 beta 4 CHR|X DBL|OMIM:300140 MAP|X URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683134 } # EOR GENR { RETE|ID 1 HUgn0001936 CHR 1 8 DID 1 LocusLink:1936 MAP 1 8q24.3 NAM 1 eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) ORG 1 Homo sapiens SYM 1 EEF1D ID|HUgn0001936 DID|LocusLink:1936 ORG|Homo sapiens RSQ|REFSEQ:NM_001960 |REFSEQ:NM_032378 RPA|REFPROT:NP_001951 |REFPROT:NP_115754 DBA|XM:NM_001960 |XM:NM_032378 |NA:AK024550 |NA:AK093756 |NA:BC000678 |NA:BC007847 |NA:BC009907 |NA:BC012819 |NA:BC034020 |NA:BT007242 |NA:Z21507 PAC|XP:NP_001951 |XP:NP_115754 SYM|EEF1D NAM|eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) SYN|EF-1D |FLJ20897 FNC|eukaryotic translation elongation factor 1 delta isoform 1 |eukaryotic translation elongation factor 1 delta isoform 2 REAB|This gene encodes a subunit of the elongation factor-1 complex, which is responsible |for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit functions |as guanine nucleotide exchange factor. It is reported that this subunit interacts |with HIV-1 Tat, and thus it represses the translation of host-cell, but not HIV-1, |mRNAs. Several alternatively spliced transcript variants have been found for this |gene, however, the full length nature of only two variants has been determined. CHR|8 PRD|guanine nucleotide exchange protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334798 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1936[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:216099 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032378 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032378 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334798 DBL|UNIGENE:Hs.334798 |OMIM:130592 |SNP:1936 MAP|8q24.3 ENZ|translation factor activity, nucleic acid binding ; GO:0008135 |guanyl-nucleotide exchange factor activity ; GO:0005085 CEL|eukaryotic translation elongation factor 1 complex ; GO:0005853 HG|species == rat; score == 453; expect == 5e-128; MEOW:ref|XP_216967.1| (92%) |species == Mouse; gene == Eef1d; score == 447; expect == 3e-126; MEOW:MGgn0025980 (92%) |species == Human; gene == LOC126037; score == 410; expect == 6e-115; MEOW:HUgn0126037 (85%) |species == Fruitfly; gene == eEF1&dgr;; score == 206; expect == 5.2e-54; MEOW:FBgn0032198 (46%) |species == Mosquito; score == 198; expect == 2.3e-51; MEOW:AGgn0013448 (43%) |species == Mosquito; gene == LOC17979; score == 186; expect == 9.1e-48; MEOW:AGgn0017979 (73%) |species == Mosquito; score == 186; expect == 9.1e-48; MEOW:AGgn0025422 (73%) |species == Fruitfly; gene == Ef1&bgr;; score == 183; expect == 8.0e-47; MEOW:FBgn0028737 (71%) |species == Worm; gene == F54H12.6; score == 169; expect == 1.1e-42; MEOW:CEgn0011858 (67%) |species == Worm; gene == Y41E3.10; score == 164; expect == 3.4e-41; MEOW:CEgn0018577 (49%) |species == Yeast; gene == EFB1; score == 146; expect == 5.3e-36; MEOW:SGgn0000003 (56%) |species == Weed; gene == At1g30230; score == 130; expect == 8.0e-31; MEOW:ATgn0006433 (56%) |species == Weed; gene == At2g18110; score == 130; expect == 8.0e-31; MEOW:ATgn0008099 (56%) } # EOR GENR { RETE|ID 1 HUgn0001937 CHR 1 11 DID 1 LocusLink:1937 MAP 1 11q12.3 NAM 1 eukaryotic translation elongation factor 1 gamma ORG 1 Homo sapiens SYM 1 EEF1G ID|HUgn0001937 DID|LocusLink:1937 ORG|Homo sapiens RSQ|REFSEQ:NM_001404 RPA|REFPROT:NP_001395 DBA|XM:NM_001404 |NA:AK092787 |NA:AK129569 |NA:AK129618 |NA:AK130026 |NA:AL556034 |NA:BC000384 |NA:BC006509 |NA:BC006520 |NA:BC007949 |NA:BC009865 |NA:BC013918 |NA:BC015813 |NA:BC018853 |NA:BC018857 |NA:BC019051 |NA:BC021974 |NA:BC024274 |NA:BC028179 |NA:BC031012 |NA:BT006677 |NA:M55409 |NA:X63526 |NA:Z11531 PAC|XP:NP_001395 SYM|EEF1G NAM|eukaryotic translation elongation factor 1 gamma SYN|EF1G FNC|eukaryotic translation elongation factor 1 gamma REAB|This gene encodes a subunit of the elongation factor-1 complex, which is responsible |for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains |an N-terminal glutathione transferase domain, which may be involved in regulating |the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA |synthetases. CHR|11 PRD|PRO1608 |EF-1-gamma |eEF-1B gamma |elongation factor 1-gamma |pancreatic tumor-related protein |translation elongation factor eEF-1 gamma chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=256184 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1937[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133781 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001404 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001404 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=256184 DBL|UNIGENE:Hs.256184 |OMIM:130593 |SNP:1937 MAP|11q12.3 HG|species == rat; score == 852; expect == 0.0; MEOW:ref|XP_215165.2| (97%) |species == Mouse; gene == 2610301D06Rik; score == 827; expect == 0.0; MEOW:MGgn0021118 (97%) |species == Zfish; gene == eef1g; score == 687; expect == 0.0; MEOW:ZFgn0002554 (74%) |species == Fruitfly; gene == Ef1&ggr;; score == 476; expect == 8e-135; MEOW:FBgn0029176 (57%) |species == Mosquito; gene == LOC13107; score == 456; expect == 6e-129; MEOW:AGgn0013107 (54%) |species == rat; score == 431; expect == 1e-121; MEOW:ref|XP_344448.1| (86%) |species == Worm; gene == F17C11.9a; score == 356; expect == 8.5e-99; MEOW:CEgn0031938 (45%) |species == Worm; gene == F17C11.9b; score == 342; expect == 2.2e-94; MEOW:CEgn0031939 (47%) |species == rice; score == 253; expect == 3.2e-67; MEOW:gnl|TIGR|8351.m01109 (34%) |species == rice; score == 246; expect == 4.0e-65; MEOW:gnl|TIGR|8354.m03444 (34%) |species == Yeast; gene == TEF4; score == 216; expect == 7.4e-57; MEOW:SGgn0001564 (32%) |species == Yeast; gene == CAM1; score == 205; expect == 9.9e-54; MEOW:SGgn0005969 (31%) |species == Human; gene == LOC344682; score == 155; expect == 5.5e-38; MEOW:HUgn0344682 (77%) |species == Weed; gene == (eEF-1B gamma); score == 145; expect == 5.3e-35; MEOW:ATgn0002619 (40%) |species == Weed; gene == (eEF-1B gamma); score == 157; expect == 1.3e-38; MEOW:ATgn0003203 (43%) } # EOR GENR { RETE|ID 1 HUgn0001938 CHR 1 19 DID 1 LocusLink:1938 MAP 1 19pter-q12 NAM 1 eukaryotic translation elongation factor 2 ORG 1 Homo sapiens SYM 1 EEF2 ID|HUgn0001938 DID|LocusLink:1938 ORG|Homo sapiens RSQ|REFSEQ:NM_001961 RPA|REFPROT:NP_001952 DBA|XM:NM_001961 |NA:BC006547 |NA:BC024689 |NA:M19997 |NA:X51466 |NA:Z11692 |NA:none PAC|XP:NP_001952 SYM|EEF2 NAM|eukaryotic translation elongation factor 2 SYN|EF2 |EEF-2 FNC|eukaryotic translation elongation factor 2 |translational elongation ; GO:0006414 REAB|This gene encodes a member of the GTP-binding translation elongation factor family. |This protein is an essential factor for protein synthesis. It promotes the GTP-dependent |translocation of the nascent protein chain from the A-site to the P-site of the |ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. CHR|19 PRD|polypeptidyl-tRNA translocase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75309 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1938[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119104 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001961 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001961 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75309 DBL|UNIGENE:Hs.75309 |OMIM:130610 |SNP:1938 MAP|19pter-q12 ENZ|GTP binding ; GO:0005525 |translation elongation factor activity ; GO:0003746 |protein-synthesizing GTPase activity ; GO:0008547 HG|species == Mouse; gene == Eef2; score == 1676; expect == 0.0; MEOW:MGgn0003711 (98%) |species == rat; score == 1659; expect == 0.0; MEOW:ref|NP_058941.1| (99%) |species == Worm; gene == eft-2; score == 1336; expect == 0.0; MEOW:CEgn0000475 (78%) |species == Fruitfly; gene == Ef2b; score == 1310; expect == 0.0; MEOW:FBgn0000559 (78%) |species == Mosquito; gene == LOC18623; score == 1298; expect == 0.0; MEOW:AGgn0018623 (78%) |species == Yeast; gene == EFT2; score == 1127; expect == 0.0; MEOW:SGgn0002793 (66%) |species == Yeast; gene == EFT1; score == 1127; expect == 0.0; MEOW:SGgn0005659 (66%) |species == rice; score == 1080; expect == 0.0; MEOW:gnl|TIGR|8352.m00173 (63%) |species == rice; score == 1072; expect == 0.0; MEOW:gnl|TIGR|8351.m02975 (62%) |species == Weed; gene == At1g56070; score == 1036; expect == 0.0; MEOW:ATgn0001795 (62%) |species == rice; score == 1020; expect == 0.0; MEOW:gnl|TIGR|8350.m05013 (62%) |species == rice; score == 998; expect == 0.0; MEOW:gnl|TIGR|8350.m04867 (58%) |species == Mouse; gene == Snrp116; score == 633; expect == 0.0; MEOW:MGgn0011075 (39%) |species == Human; gene == U5-116KD; score == 632; expect == 0.0; MEOW:HUgn0009343 (39%) } # EOR GENR { RETE|ID 1 HUgn0001939 CHR 1 1 DID 1 LocusLink:1939 MAP 1 1q31-q32 NAM 1 ligatin ORG 1 Homo sapiens SYM 1 LGTN ID|HUgn0001939 DID|LocusLink:1939 ORG|Homo sapiens RSQ|REFSEQ:NM_006893 RPA|REFPROT:NP_008824 DBA|XM:NM_006893 |NA:AF159586 |NA:AF220417 |NA:AF262403 |NA:AK001852 |NA:AL162001 |NA:BC001585 |NA:BC039134 |NA:BC058905 |NA:none PAC|XP:NP_008824 SYM|LGTN NAM|ligatin FNC|ligatin CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274151 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1939[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3750012 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006893 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006893 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274151 DBL|UNIGENE:Hs.274151 |OMIM:151625 |SNP:1939 MAP|1q31-q32 HG|species == Mouse; gene == Lgtn; score == 866; expect == 0.0; MEOW:MGgn0007055 (80%) |species == rat; score == 338; expect == 2.1e-93; MEOW:ref|XP_218452.2| (76%) |species == Fruitfly; gene == ligatin; score == 271; expect == 7.1e-73; MEOW:FBgn0041588 (35%) |species == Mosquito; gene == LOC8820; score == 244; expect == 7.1e-65; MEOW:AGgn0008820 (31%) |species == Weed; gene == At1g71350; score == 233; expect == 1.7e-61; MEOW:ATgn0027159 (31%) |species == rice; score == 232; expect == 1.1e-60; MEOW:gnl|TIGR|8351.m03295 (31%) } # EOR GENR { RETE|ID 1 HUgn0001940 CHR 1 20 DID 1 LocusLink:1940 MAP 1 20q13.2-q13.3 NAM 1 electro-encephalographic variant pattern 1 ORG 1 Homo sapiens SYM 1 EEGV1 ID|HUgn0001940 DID|LocusLink:1940 ORG|Homo sapiens SYM|EEGV1 NAM|electro-encephalographic variant pattern 1 SYN|EEGL CHR|20 DBL|OMIM:130180 MAP|20q13.2-q13.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127525 } # EOR GENR { RETE|ID 1 HUgn0001941 CHR 1 X DID 1 LocusLink:1941 MAP 1 Xq21-q25 NAM 1 epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) ORG 1 Homo sapiens SYM 1 EFMR ID|HUgn0001941 DID|LocusLink:1941 ORG|Homo sapiens SYM|EFMR NAM|epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) CHR|X PRD|epilepsy, female restricted, with mental retardation (Juberg-Heilman syndrome) DBL|OMIM:300088 MAP|Xq21-q25 PHP|Epilepsy, female restricted, with mental retardation URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6099558 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html } # EOR GENR { RETE|ID 1 HUgn0001942 CHR 1 1 DID 1 LocusLink:1942 MAP 1 1q21-q22 NAM 1 ephrin-A1 ORG 1 Homo sapiens SYM 1 EFNA1 ID|HUgn0001942 DID|LocusLink:1942 ORG|Homo sapiens RSQ|REFSEQ:NM_004428 |REFSEQ:NM_182685 RPA|REFPROT:NP_004419 |REFPROT:NP_872626 DBA|XM:NM_004428 |NA:AK057845 |NA:AL833641 |NA:AW274944 |NA:BC032698 |NA:M57730 |NA:none PAC|XP:NP_004419 SYM|EFNA1 NAM|ephrin-A1 SYN|B61 |EFL1 |ECKLG |EPLG1 |LERK1 |TNFAIP4 FNC|ephrin A1 isoform a precursor |ephrin A1 isoform b precursor |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related |receptors comprise the largest subfamily of receptor protein-tyrosine kinases and |have been implicated in mediating developmental events, especially in the nervous |system and in erythropoiesis. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to |the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that |encode different isoforms were identified through sequence analysis. CHR|1 PRD|ligand of eph-related kinase 1 |immediate early response protein B61 |eph-related receptor tyrosine kinase ligand 1 |tumor necrosis factor, alpha-induced protein 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=399713 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1942[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135170 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004428 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004428 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=399713 DBL|UNIGENE:Hs.399713 |OMIM:191164 |SNP:1942 MAP|1q21-q22 ENZ|transmembrane ephrin ; GO:0005108 |receptor binding ; GO:0005102 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Efna1; score == 365; expect == 8e-102; MEOW:MGgn0003718 (86%) |species == rat; score == 362; expect == 1e-100; MEOW:ref|NP_446051.1| (86%) |species == Zfish; gene == efna2; score == 156; expect == 6.3e-40; MEOW:ZFgn0000305 (46%) |species == Human; gene == EFNA5; score == 151; expect == 2.0e-37; MEOW:HUgn0001946 (54%) |species == Human; gene == EFNA3; score == 148; expect == 2.2e-36; MEOW:HUgn0001944 (44%) |species == Zfish; gene == efna5b; score == 148; expect == 1.0e-37; MEOW:ZFgn0000039 (52%) |species == Zfish; gene == efna3; score == 148; expect == 1.0e-37; MEOW:ZFgn0002397 (52%) |species == Human; gene == EFNA2; score == 139; expect == 8.5e-34; MEOW:HUgn0001943 (42%) } # EOR GENR { RETE|ID 1 HUgn0001943 CHR 1 19 DID 1 LocusLink:1943 MAP 1 19p13.3 NAM 1 ephrin-A2 ORG 1 Homo sapiens SYM 1 EFNA2 ID|HUgn0001943 DID|LocusLink:1943 ORG|Homo sapiens RSQ|REFSEQ:NM_001405 RPA|REFPROT:NP_001396 DBA|XM:NM_001405 |NA:AC004258 |NA:U92896 |NA:AJ007292 |NA:none PAC|XP:NP_001396 SYM|EFNA2 NAM|ephrin-A2 SYN|ELF-1 |EPLG6 |LERK6 |HEK7-L FNC|ephrin-A2 precursor |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin family. The protein is composed of a signal |sequence, a receptor-binding region, a spacer region, and a hydrophobic region. |The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine |kinases and have been implicated in mediating developmental events, particularly |in the nervous system. Based on their structures and sequence relationships, ephrins |are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by |a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are |transmembrane proteins. Posttranslational modifications determine whether this protein |localizes to the nucleus or the cytoplasm. CHR|19 PRD|HEK7-ligand |ligand of eph-related kinase 6 |eph-related receptor tyrosine kinase ligand 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=158306 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1943[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568752 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001405 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001405 DBL|UNIGENE:Hs.158306 |OMIM:602756 |SNP:1943 MAP|19p13.3 ENZ|ephrin ; GO:0005106 CEL|membrane ; GO:0016020 HG|species == Mouse; gene == Efna2; score == 376; expect == 4e-105; MEOW:MGgn0003719 (90%) |species == rat; score == 376; expect == 5e-105; MEOW:ref|XP_234903.2| (90%) |species == Zfish; gene == efna2; score == 225; expect == 8.8e-61; MEOW:ZFgn0000305 (61%) |species == Human; gene == EFNA5; score == 202; expect == 1.1e-52; MEOW:HUgn0001946 (60%) |species == Zfish; gene == efna5b; score == 201; expect == 1.0e-53; MEOW:ZFgn0000039 (62%) } # EOR GENR { RETE|ID 1 HUgn0001944 CHR 1 1 DID 1 LocusLink:1944 MAP 1 1q21-q22 NAM 1 ephrin-A3 ORG 1 Homo sapiens SYM 1 EFNA3 ID|HUgn0001944 DID|LocusLink:1944 ORG|Homo sapiens RSQ|REFSEQ:NM_004952 RPA|REFPROT:NP_004943 DBA|XM:NM_004952 |NA:BC017722 |NA:BU633345 |NA:L37360 |NA:U14187 |NA:none PAC|XP:NP_004943 SYM|EFNA3 NAM|ephrin-A3 SYN|EFL2 |EPLG3 |LERK3 FNC|ephrin A3 |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related |receptors comprise the largest subfamily of receptor protein-tyrosine kinases and |have been implicated in mediating developmental events, especially in the nervous |system and in erythropoiesis. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. This gene encodes an EFNA class ephrin. CHR|1 PRD|Ehk1-L |ligand of eph-related kinase 3 |eph-related receptor tyrosine kinase ligand 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37054 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1944[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438336 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004952 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004952 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=37054 DBL|UNIGENE:Hs.37054 |OMIM:601381 |SNP:1944 MAP|1q21-q22 ENZ|transmembrane-ephrin receptor activity ; GO:0005005 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 HG|species == Zfish; gene == efna3; score == 277; expect == 1.8e-76; MEOW:ZFgn0002397 (67%) |species == Human; gene == EFNA5; score == 159; expect == 8.9e-40; MEOW:HUgn0001946 (49%) |species == Mouse; gene == Efna5; score == 159; expect == 7.2e-40; MEOW:MGgn0003722 (47%) |species == rat; score == 159; expect == 1.2e-39; MEOW:ref|NP_446355.1| (49%) |species == Mouse; gene == Efna2; score == 157; expect == 3.8e-39; MEOW:MGgn0003719 (52%) |species == rat; score == 157; expect == 3.8e-39; MEOW:ref|XP_234903.2| (52%) |species == Human; gene == EFNA2; score == 156; expect == 1.1e-38; MEOW:HUgn0001943 (53%) |species == Mouse; gene == Efna4; score == 156; expect == 7.3e-39; MEOW:MGgn0003721 (47%) |species == Human; gene == EFNA1; score == 148; expect == 2.2e-36; MEOW:HUgn0001942 (44%) |species == rat; score == 142; expect == 1.2e-34; MEOW:ref|XP_227416.1| (45%) |species == Mouse; gene == Efna1; score == 139; expect == 1.0e-33; MEOW:MGgn0003718 (48%) |species == rat; score == 137; expect == 5.2e-33; MEOW:ref|NP_446051.1| (48%) } # EOR GENR { RETE|ID 1 HUgn0001945 CHR 1 1 DID 1 LocusLink:1945 MAP 1 1q21-q22 NAM 1 ephrin-A4 ORG 1 Homo sapiens SYM 1 EFNA4 ID|HUgn0001945 DID|LocusLink:1945 ORG|Homo sapiens RSQ|REFSEQ:NM_005227 |REFSEQ:NM_182689 |REFSEQ:NM_182690 RPA|REFPROT:NP_005218 |REFPROT:NP_872631 |REFPROT:NP_872632 DBA|XM:NM_005227 |NA:AJ320547 |NA:AI459151 |NA:AI625552 |NA:AJ006352 |NA:AJ006353 |NA:BC042610 |NA:BE780161 |NA:BM740848 |NA:BM747625 |NA:BQ940212 |NA:CD671399 |NA:U14188 |NA:none PAC|XP:NP_005218 SYM|EFNA4 NAM|ephrin-A4 SYN|EFL4 |EPLG4 |LERK4 FNC|ephrin A4 isoform a |ephrin A4 isoform b |ephrin A4 isoform c |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related |receptors comprise the largest subfamily of receptor protein-tyrosine kinases and |have been implicated in mediating developmental events, especially in the nervous |system and in erythropoiesis. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript |variants that encode distinct proteins have been identified. CHR|1 PRD|ligand of eph-related kinase 4 |eph-related receptor tyrosine kinase ligand 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=449913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1945[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438337 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005227 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005227 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=449913 DBL|UNIGENE:Hs.449913 |OMIM:601380 |SNP:1945 MAP|1q21-q22 ENZ|transmembrane-ephrin receptor activity ; GO:0005005 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 307; expect == 2.2e-84; MEOW:ref|XP_227416.1| (83%) |species == Mouse; gene == Efna4; score == 306; expect == 7.4e-84; MEOW:MGgn0003721 (81%) |species == Human; gene == EFNA5; score == 140; expect == 7.3e-34; MEOW:HUgn0001946 (46%) |species == Zfish; gene == efna2; score == 137; expect == 3.6e-33; MEOW:ZFgn0000305 (49%) |species == Zfish; gene == efna5b; score == 133; expect == 6.8e-32; MEOW:ZFgn0000039 (44%) } # EOR GENR { RETE|ID 1 HUgn0001946 CHR 1 5 DID 1 LocusLink:1946 MAP 1 5q21 NAM 1 ephrin-A5 ORG 1 Homo sapiens SYM 1 EFNA5 ID|HUgn0001946 DID|LocusLink:1946 ORG|Homo sapiens RSQ|REFSEQ:NM_001962 RPA|REFPROT:NP_001953 DBA|XM:NM_001962 |NA:U26403 |NA:none PAC|XP:NP_001953 SYM|EFNA5 NAM|ephrin-A5 SYN|AF1 |EFL5 |RAGS |EPLG7 |LERK7 FNC|ephrin-A5 |development ; GO:0007275 |neurogenesis ; GO:0007399 |cell-cell signaling ; GO:0007267 REAB|Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures |of cortical neurons with astrocytes, a model of late stage nervous system development |and differentiation. The EPH and EPH-related receptors comprise the largest subfamily |of receptor protein-tyrosine kinases and have been implicated in mediating developmental |events, particularly in the nervous system. EPH receptors typically have a single |kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin |type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature |Committee (1997). Based on their structures and sequence relationships, ephrins |are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by |a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are |transmembrane proteins. The Eph family of receptors are similarly divided into 2 |groups based on the similarity of their extracellular domain sequences and their |affinities for binding ephrin-A and ephrin-B ligands. CHR|5 PRD|eph-related receptor tyrosine kinase ligand 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37142 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1946[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568757 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001962 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001962 DBL|UNIGENE:Hs.37142 |OMIM:601535 |SNP:1946 MAP|5q21 ENZ|GPI-linked ephrin ; GO:0005107 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 |extracellular space ; GO:0005615 HG|species == rat; score == 449; expect == 6e-127; MEOW:ref|NP_446355.1| (98%) |species == Mouse; gene == Efna5; score == 382; expect == 4e-107; MEOW:MGgn0003722 (86%) |species == Zfish; gene == efna5b; score == 359; expect == 4e-101; MEOW:ZFgn0000039 (81%) |species == Human; gene == EFNA2; score == 202; expect == 1.1e-52; MEOW:HUgn0001943 (60%) } # EOR GENR { RETE|ID 1 HUgn0001947 CHR 1 X DID 1 LocusLink:1947 MAP 1 Xq12 NAM 1 ephrin-B1 ORG 1 Homo sapiens SYM 1 EFNB1 ID|HUgn0001947 DID|LocusLink:1947 ORG|Homo sapiens RSQ|REFSEQ:NM_004429 RPA|REFPROT:NP_004420 DBA|XM:NM_004429 |NA:BC016649 |NA:BC052979 |NA:BU172498 |NA:L37361 |NA:U09303 |NA:U09304 |NA:none PAC|XP:NP_004420 SYM|EFNB1 NAM|ephrin-B1 SYN|EFL3 |EPLG2 |LERK2 |MGC8782 FNC|ephrin-B1 precursor |cell adhesion ; GO:0007155 |development ; GO:0007275 |neurogenesis ; GO:0007399 |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin family. The encoded protein is a type I |membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play |a role in cell adhesion and function in the development or maintenance of the nervous |system. CHR|X PRD|Elk-L |ligand of eph-related kinase 2 |eph-related receptor tyrosine kinase ligand 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=144700 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1947[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438335 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004429 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004429 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=144700 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27661 DBL|UNIGENE:Hs.144700 |OMIM:300035 |SNP:1947 MAP|Xq12 ENZ|transmembrane ephrin ; GO:0005108 CEL|soluble fraction ; GO:0005625 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 567; expect == 3e-162; MEOW:ref|NP_058785.1| (94%) |species == Mouse; gene == Efnb1; score == 564; expect == 1e-161; MEOW:MGgn0003723 (95%) |species == Zfish; gene == efnb1; score == 403; expect == 6e-113; MEOW:ZFgn0002199 (66%) |species == Human; gene == EFNB2; score == 308; expect == 3.5e-84; MEOW:HUgn0001948 (55%) } # EOR GENR { RETE|ID 1 HUgn0001948 CHR 1 13 DID 1 LocusLink:1948 MAP 1 13q33 NAM 1 ephrin-B2 ORG 1 Homo sapiens SYM 1 EFNB2 ID|HUgn0001948 DID|LocusLink:1948 ORG|Homo sapiens RSQ|REFSEQ:NM_004093 RPA|REFPROT:NP_004084 DBA|XM:NM_004093 |NA:BG741114 |NA:BQ433342 |NA:BQ708550 |NA:BU622947 |NA:CB998384 |NA:L38734 |NA:T23731 |NA:U16797 |NA:U81262 |NA:none PAC|XP:NP_004084 SYM|EFNB2 NAM|ephrin-B2 SYN|HTKL |EPLG5 |Htk-L |LERK5 FNC|ephrin B2 |histogenesis and organogenesis ; GO:0007397 |development ; GO:0007275 |neurogenesis ; GO:0007399 |cell-cell signaling ; GO:0007267 REAB|This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related |receptors comprise the largest subfamily of receptor protein-tyrosine kinases and |have been implicated in mediating developmental events, especially in the nervous |system and in erythropoiesis. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to |the EPHB4 and EPHA3 receptors. CHR|13 PRD|HTK ligand |ligand of eph-related kinase 5 |eph-related receptor tyrosine kinase ligand 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=30942 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1948[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:438338 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004093 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004093 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27662 DBL|UNIGENE:Hs.30942 |OMIM:600527 |SNP:1948 MAP|13q33 ENZ|transmembrane ephrin ; GO:0005108 |ephrin ; GO:0005106 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Efnb2; score == 590; expect == 2e-169; MEOW:MGgn0003724 (96%) |species == rat; score == 524; expect == 3e-149; MEOW:ref|XP_225050.2| (95%) |species == Zfish; gene == efnb2a; score == 393; expect == 3e-111; MEOW:ZFgn0000306 (65%) |species == Zfish; gene == efnb1; score == 334; expect == 6.2e-92; MEOW:ZFgn0002199 (56%) |species == Zfish; gene == efnb2b; score == 333; expect == 5.5e-93; MEOW:ZFgn0002236 (53%) |species == Human; gene == EFNB1; score == 308; expect == 3.5e-84; MEOW:HUgn0001947 (55%) } # EOR GENR { RETE|ID 1 HUgn0001949 CHR 1 17 DID 1 LocusLink:1949 MAP 1 17p13.1-p11.2 NAM 1 ephrin-B3 ORG 1 Homo sapiens SYM 1 EFNB3 ID|HUgn0001949 DID|LocusLink:1949 ORG|Homo sapiens RSQ|REFSEQ:NM_001406 RPA|REFPROT:NP_001397 DBA|XM:NM_001406 |NA:AI346983 |NA:AK027329 |NA:BC022499 |NA:BC042944 |NA:BQ892951 |NA:U57001 |NA:U62775 |NA:U66406 |NA:none PAC|XP:NP_001397 SYM|EFNB3 NAM|ephrin-B3 SYN|EFL6 |EPLG8 |LERK8 FNC|ephrin-B3 precursor |development ; GO:0007275 |neurogenesis ; GO:0007399 |cell-cell signaling ; GO:0007267 REAB|EFNB3, a member of the ephrin gene family, is important in brain development as well |as in its maintenance. Moreover, since levels of EFNB3 expression were particularly |high in several forebrain subregions compared to other brain subregions, it may |play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise |the largest subfamily of receptor protein-tyrosine kinases and have been implicated |in mediating developmental events, particularly in the nervous system. EPH Receptors |typically have a single kinase domain and an extracellular region containing a Cys-rich |domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have |been named by the Eph Nomenclature Committee (1997). Based on their structures and |sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which |are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the |ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors |are similarly divided into 2 groups based on the similarity of their extracellular |domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. CHR|17 PRD|Ephrin B3 |eph-related receptor tyrosine kinase ligand 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26988 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1949[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220130 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001406 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001406 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26988 DBL|UNIGENE:Hs.26988 |OMIM:602297 |SNP:1949 MAP|17p13.1-p11.2 ENZ|transmembrane-ephrin receptor activity ; GO:0005005 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 533; expect == 7e-152; MEOW:ref|XP_340825.1| (96%) |species == Mouse; gene == Efnb3; score == 528; expect == 1e-150; MEOW:MGgn0003725 (95%) |species == Zfish; gene == efnb3; score == 304; expect == 3.9e-83; MEOW:ZFgn0002237 (56%) |species == Human; gene == EFNB2; score == 233; expect == 1.4e-61; MEOW:HUgn0001948 (40%) |species == Human; gene == EFNB1; score == 224; expect == 4.1e-59; MEOW:HUgn0001947 (40%) } # EOR GENR { RETE|ID 1 HUgn0001950 CHR 1 4 DID 1 LocusLink:1950 MAP 1 4q25 NAM 1 epidermal growth factor (beta-urogastrone) ORG 1 Homo sapiens SYM 1 EGF ID|HUgn0001950 DID|LocusLink:1950 ORG|Homo sapiens RSQ|REFSEQ:NM_001963 RPA|REFPROT:NP_001954 DBA|XM:NM_001963 |NA:AF023155 |NA:J02548 |NA:X04571 |NA:none PAC|XP:NP_001954 SYM|EGF NAM|epidermal growth factor (beta-urogastrone) SYN|URG FNC|epidermal growth factor (beta-urogastrone) |activation of MAPK ; GO:0000187 |EGF receptor signaling pathway ; GO:0007173 |positive regulation of cell proliferation ; GO:0008284 |chromosome organization and biogenesis (sensu Eukarya) ; GO:0007001 |DNA replication ; GO:0006260 REAB|Epidermal growth factor has a profound effect on the differentiation of specific |cells in vivo and is a potent mitogenic factor for a variety of cultured cells of |both ectodermal and mesodermal origin. The EGF precursor is believed to exist as |a membrane-bound molecule which is proteolytically cleaved to generate the 53-amino |acid peptide hormone that stimulates cells to divide. CHR|4 PRD|urogastrone URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=419815 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1950[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119105 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001963 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001963 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 DBL|UNIGENE:Hs.419815 |OMIM:131530 |SNP:1950 MAP|4q25 ENZ|epidermal growth factor receptor activating ligand activity ; GO:0005155 |growth factor activity ; GO:0008083 |calcium ion binding ; GO:0005509 CEL|extracellular ; GO:0005576 |integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 |nucleus ; GO:0005634 HG|species == Mouse; gene == Egf; score == 1640; expect == 0.0; MEOW:MGgn0003727 (66%) |species == rat; score == 1576; expect == 0.0; MEOW:ref|NP_036974.1| (67%) |species == Human; gene == LRP4; score == 275; expect == 1.2e-73; MEOW:HUgn0004038 (36%) |species == Human; gene == LRP1; score == 269; expect == 8.3e-72; MEOW:HUgn0004035 (30%) |species == Mosquito; gene == LOC17336; score == 243; expect == 2.1e-64; MEOW:AGgn0017336 (30%) |species == Human; gene == LRP5; score == 241; expect == 1.4e-63; MEOW:HUgn0004041 (37%) |species == Human; gene == LRP8; score == 240; expect == 4.2e-63; MEOW:HUgn0007804 (34%) |species == Human; gene == LRP6; score == 239; expect == 9.2e-63; MEOW:HUgn0004040 (36%) |species == Mosquito; score == 234; expect == 1.6e-61; MEOW:AGgn0020132 (35%) |species == Human; gene == LRP2; score == 234; expect == 3.0e-61; MEOW:HUgn0004036 (27%) |species == Human; gene == LDLR; score == 229; expect == 6.6e-60; MEOW:HUgn0003949 (32%) |species == Human; gene == LRP1B; score == 226; expect == 4.7e-59; MEOW:HUgn0053353 (33%) |species == Worm; gene == lrp-1; score == 224; expect == 1.6e-58; MEOW:CEgn0001881 (31%) |species == Fruitfly; gene == CG12139; score == 224; expect == 1.4e-58; MEOW:FBgn0030130 (29%) |species == Fruitfly; gene == LpR2; score == 224; expect == 1.8e-58; MEOW:FBgn0051092 (29%) |species == Mosquito; score == 216; expect == 2.3e-56; MEOW:AGgn0006309 (32%) |species == Mosquito; gene == LOC11153; score == 214; expect == 1.8e-55; MEOW:AGgn0011153 (30%) |species == Fruitfly; gene == CG4861; score == 214; expect == 1.8e-55; MEOW:FBgn0039363 (29%) |species == Mosquito; gene == LOC14849; score == 213; expect == 2.3e-55; MEOW:AGgn0014849 (28%) |species == Fruitfly; gene == arr; score == 213; expect == 1.0e-54; MEOW:FBgn0000119 (34%) |species == Fruitfly; gene == yl; score == 209; expect == 5.9e-54; MEOW:FBgn0004649 (29%) |species == Worm; gene == T21E3.3; score == 190; expect == 2.6e-48; MEOW:CEgn0016568 (26%) } # EOR GENR { RETE|ID 1 HUgn0001951 CHR 1 3 DID 1 LocusLink:1951 MAP 1 3p24.1-p21.2 NAM 1 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) ORG 1 Homo sapiens SYM 1 CELSR3 ID|HUgn0001951 DID|LocusLink:1951 ORG|Homo sapiens RSQ|REFSEQ:NM_001407 RPA|REFPROT:NP_001398 DBA|XM:NM_001407 |NA:AC005923 |NA:AA411204 |NA:AB011536 |NA:AF231023 |NA:none PAC|XP:NP_001398 SYM|CELSR3 NAM|cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) SYN|FMI1 |EGFL1 |HFMI1 |MEGF2 |CDHF11 FNC|cadherin EGF LAG seven-pass G-type receptor 3 |neuropeptide signaling pathway ; GO:0007218 |homophilic cell adhesion ; GO:0007156 |development ; GO:0007275 |biological_process unknown ; GO:0000004 REAB|The protein encoded by this gene is a member of the flamingo subfamily, part of the |cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; |a subpopulation that does not interact with catenins. The flamingo cadherins are |located at the plasma membrane and have nine cadherin domains, seven epidermal growth |factor-like repeats and two laminin A G-type repeats in their ectodomain. They also |have seven transmembrane domains, a characteristic unique to this subfamily. It |is postulated that these proteins are receptors involved in contact-mediated communication, |with cadherin domains acting as homophilic binding regions and the EGF-like domains |involved in cell adhesion and receptor-ligand interactions. The specific function |of this particular member has not been determined. CHR|3 PRD|EGF-like-domain, multiple 1 |multiple EGF-like domains 2 |epidermal growth factor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=55173 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1951[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836961 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001407 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001407 DBL|UNIGENE:Hs.55173 |OMIM:604264 |SNP:1951 MAP|3p24.1-p21.2 ENZ|G-protein coupled receptor activity ; GO:0004930 |structural molecule activity ; GO:0005198 |calcium ion binding ; GO:0005509 CEL|integral to membrane ; GO:0016021 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Celsr3; score == 5468; expect == 0.0; MEOW:MGgn0013895 (91%) |species == rat; score == 5370; expect == 0.0; MEOW:ref|NP_112610.1| (91%) |species == Human; gene == CELSR2; score == 2791; expect == 0.0; MEOW:HUgn0001952 (56%) |species == Human; gene == CELSR1; score == 2605; expect == 0.0; MEOW:HUgn0009620 (51%) |species == Mosquito; gene == LOC1238; score == 1552; expect == 0.0; MEOW:AGgn0001238 (40%) |species == Fruitfly; gene == stan; score == 1541; expect == 0.0; MEOW:FBgn0024836 (42%) |species == Worm; gene == R10F2.1; score == 229; expect == 1.8e-59; MEOW:CEgn0014784 (30%) |species == Zfish; gene == pcdh8; score == 214; expect == 2.6e-56; MEOW:ZFgn0000061 (29%) } # EOR GENR { RETE|ID 1 HUgn0001952 CHR 1 1 DID 1 LocusLink:1952 MAP 1 1p21 NAM 1 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) ORG 1 Homo sapiens SYM 1 CELSR2 ID|HUgn0001952 DID|LocusLink:1952 ORG|Homo sapiens RSQ|REFSEQ:NM_001408 RPA|REFPROT:NP_001399 DBA|XM:NM_001408 |NA:AF234887 |NA:D87469 |NA:none PAC|XP:NP_001399 SYM|CELSR2 NAM|cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) SYN|EGFL2 |MEGF3 |CDHF10 |KIAA0279 |Flamingo1 FNC|cadherin EGF LAG seven-pass G-type receptor 2 |neuropeptide signaling pathway ; GO:0007218 |homophilic cell adhesion ; GO:0007156 |development ; GO:0007275 REAB|The protein encoded by this gene is a member of the flamingo subfamily, part of the |cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; |a subpopulation that does not interact with catenins. The flamingo cadherins are |located at the plasma membrane and have nine cadherin domains, seven epidermal growth |factor-like repeats and two laminin A G-type repeats in their ectodomain. They also |have seven transmembrane domains, a characteristic unique to this subfamily. It |is postulated that these proteins are receptors involved in contact-mediated communication, |with cadherin domains acting as homophilic binding regions and the EGF-like domains |involved in cell adhesion and receptor-ligand interactions. The specific function |of this particular member has not been determined. CHR|1 PRD|EGF-like-domain, multiple 2 |epidermal growth factor-like 2 |multiple epidermal growth factor-like domains 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57652 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1952[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9785449 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001408 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001408 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0279 DBL|UNIGENE:Hs.57652 |OMIM:604265 |SNP:1952 MAP|1p21 ENZ|G-protein coupled receptor activity ; GO:0004930 |structural molecule activity ; GO:0005198 |calcium ion binding ; GO:0005509 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 5357; expect == 0.0; MEOW:ref|XP_342319.1| (94%) |species == Mouse; gene == Celsr2; score == 5178; expect == 0.0; MEOW:MGgn0013894 (94%) |species == Human; gene == CELSR1; score == 3086; expect == 0.0; MEOW:HUgn0009620 (58%) |species == Human; gene == CELSR3; score == 2791; expect == 0.0; MEOW:HUgn0001951 (56%) |species == Fruitfly; gene == stan; score == 1562; expect == 0.0; MEOW:FBgn0024836 (40%) |species == Mosquito; gene == LOC1238; score == 1554; expect == 0.0; MEOW:AGgn0001238 (40%) |species == Worm; gene == R10F2.1; score == 226; expect == 1.4e-58; MEOW:CEgn0014784 (26%) |species == Zfish; gene == pcdh8; score == 199; expect == 9.9e-52; MEOW:ZFgn0000061 (29%) |species == Worm; gene == lat-1; score == 192; expect == 8.2e-49; MEOW:CEgn0031046 (33%) |species == Worm; gene == lat-2; score == 190; expect == 8.4e-48; MEOW:CEgn0003348 (24%) |species == Zfish; gene == cdh2; score == 168; expect == 2.5e-42; MEOW:ZFgn0000469 (31%) } # EOR GENR { RETE|ID 1 HUgn0001953 CHR 1 1 DID 1 LocusLink:1953 MAP 1 1p36.3 NAM 1 EGF-like-domain, multiple 3 ORG 1 Homo sapiens SYM 1 EGFL3 ID|HUgn0001953 DID|LocusLink:1953 ORG|Homo sapiens DBA|XM:XM_031401 |NA:AB011539 PAC|XP:XP_031401 SYM|EGFL3 NAM|EGF-like-domain, multiple 3 SYN|MEGF6 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=56186 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1953[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836962 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AB011539 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AB011539 DBL|UNIGENE:Hs.56186 |OMIM:604266 |SNP:1953 MAP|1p36.3 ENZ|structural molecule activity ; GO:0005198 |calcium ion binding ; GO:0005509 FNC|biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Egfl3; score == 810; expect == 0.0; MEOW:MGgn0020639 (59%) |species == Human; gene == MEGF11; score == 704; expect == 0.0; MEOW:HUgn0084465 (41%) |species == Human; gene == MEGF10; score == 703; expect == 0.0; MEOW:HUgn0084466 (39%) |species == rat; score == 665; expect == 0.0; MEOW:ref|XP_238019.2| (42%) |species == Worm; gene == ced-1; score == 633; expect == 0.0; MEOW:CEgn0000152 (35%) |species == Fruitfly; gene == drpr; score == 579; expect == 3e-165; MEOW:FBgn0027594 (39%) |species == rat; score == 562; expect == 3e-160; MEOW:ref|XP_215648.2| (38%) |species == Mosquito; score == 543; expect == 2e-154; MEOW:AGgn0028561 (37%) |species == Mosquito; gene == LOC15891; score == 460; expect == 2e-129; MEOW:AGgn0015891 (43%) |species == Zfish; gene == notch1a; score == 367; expect == 2e-102; MEOW:ZFgn0000457 (27%) } # EOR GENR { RETE|ID 1 HUgn0001954 CHR 1 19 DID 1 LocusLink:1954 MAP 1 19q12 NAM 1 EGF-like-domain, multiple 4 ORG 1 Homo sapiens SYM 1 EGFL4 ID|HUgn0001954 DID|LocusLink:1954 ORG|Homo sapiens DBA|XM:XM_290821 |NA:AB011541 PAC|XP:XP_290821 SYM|EGFL4 NAM|EGF-like-domain, multiple 4 SYN|MEGF8 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=158200 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1954[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836966 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AB011541 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AB011541 DBL|UNIGENE:Hs.158200 |OMIM:604267 |SNP:1954 MAP|19q12 ENZ|structural molecule activity ; GO:0005198 |calcium ion binding ; GO:0005509 FNC|development ; GO:0007275 |biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 HG|species == rat; score == 3268; expect == 0.0; MEOW:ref|XP_341804.1| (87%) |species == Mosquito; score == 1288; expect == 0.0; MEOW:AGgn0006827 (33%) |species == Fruitfly; gene == CG7466; score == 360; expect == 1.7e-99; MEOW:FBgn0031981 (40%) |species == Mouse; gene == Atrn; score == 214; expect == 3.9e-55; MEOW:MGgn0000650 (29%) |species == Human; gene == ATRN; score == 213; expect == 5.4e-55; MEOW:HUgn0008455 (29%) |species == Worm; gene == F33C8.1a; score == 161; expect == 2.0e-39; MEOW:CEgn0032019 (25%) |species == Worm; gene == F33C8.1b; score == 161; expect == 1.9e-39; MEOW:CEgn0032020 (25%) } # EOR GENR { RETE|ID 1 HUgn0001955 CHR 1 9 DID 1 LocusLink:1955 MAP 1 9q32-q33.3 NAM 1 EGF-like-domain, multiple 5 ORG 1 Homo sapiens SYM 1 EGFL5 ID|HUgn0001955 DID|LocusLink:1955 ORG|Homo sapiens DBA|XM:XM_098838 |NA:AB011542 |NA:BC008313 PAC|XP:XP_098838 SYM|EGFL5 NAM|EGF-like-domain, multiple 5 SYN|MEGF9 CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=236216 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1955[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836967 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AB011542 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AB011542 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=236216 DBL|UNIGENE:Hs.236216 |OMIM:604268 |SNP:1955 MAP|9q32-q33.3 ENZ|structural molecule activity ; GO:0005198 |calcium ion binding ; GO:0005509 |receptor activity ; GO:0004872 FNC|metabolism ; GO:0008152 |biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Egfl5; score == 745; expect == 0.0; MEOW:MGgn0024962 (84%) |species == rat; score == 739; expect == 0.0; MEOW:ref|XP_233047.1| (83%) |species == Human; gene == LAMB1; score == 193; expect == 2.1e-49; MEOW:HUgn0003912 (38%) |species == Human; gene == LAMB2; score == 192; expect == 6.0e-49; MEOW:HUgn0003913 (39%) |species == Zfish; gene == lamb4; score == 192; expect == 2.3e-50; MEOW:ZFgn0002664 (37%) |species == Zfish; gene == lamb1; score == 188; expect == 5.8e-49; MEOW:ZFgn0002663 (37%) |species == Worm; gene == lam-1; score == 183; expect == 1.5e-46; MEOW:CEgn0001085 (35%) |species == Fruitfly; gene == LanB1; score == 176; expect == 2.0e-44; MEOW:FBgn0002527 (35%) |species == Human; gene == LAMB4; score == 174; expect == 1.3e-43; MEOW:HUgn0022798 (36%) |species == Human; gene == LOC378165; score == 174; expect == 1.3e-43; MEOW:HUgn0378165 (36%) |species == Mosquito; gene == LOC16875; score == 167; expect == 6.8e-42; MEOW:AGgn0016875 (32%) |species == Human; gene == USH2A; score == 162; expect == 3.9e-40; MEOW:HUgn0007399 (33%) |species == Human; gene == LAMA2; score == 159; expect == 4.3e-39; MEOW:HUgn0003908 (33%) |species == Mosquito; score == 157; expect == 1.2e-38; MEOW:AGgn0010787 (37%) |species == Human; gene == LAMA1; score == 155; expect == 6.2e-38; MEOW:HUgn0284217 (34%) |species == Fruitfly; gene == wb; score == 151; expect == 9.0e-37; MEOW:FBgn0004002 (33%) |species == Fruitfly; gene == LanA; score == 149; expect == 2.6e-36; MEOW:FBgn0002526 (36%) |species == Worm; gene == epi-1; score == 147; expect == 1.2e-35; MEOW:CEgn0000602 (34%) |species == Fruitfly; gene == LanB2; score == 141; expect == 7.1e-34; MEOW:FBgn0002528 (33%) |species == Mosquito; gene == LOC21549; score == 138; expect == 5.7e-33; MEOW:AGgn0021549 (35%) } # EOR GENR { RETE|ID 1 HUgn0001956 CHR 1 7 DID 1 LocusLink:1956 MAP 1 7p12 NAM 1 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) ORG 1 Homo sapiens SYM 1 EGFR ID|HUgn0001956 DID|LocusLink:1956 ORG|Homo sapiens RSQ|REFSEQ:NM_005228 RPA|REFPROT:NP_005219 DBA|XM:NM_005228 |XM:NM_005228 |NA:AF288738 |NA:AF125253 |NA:K03193 |NA:U95089 |NA:X00588 |NA:X00663 |NA:none PAC|XP:NP_005219 |XP:NP_005219 SYM|EGFR NAM|epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) SYN|ERBB |ERBB1 FNC|epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) |EGF receptor signaling pathway ; GO:0007173 |electron transport ; GO:0006118 |protein amino acid phosphorylation ; GO:0006468 |cell proliferation ; GO:0008283 CHR|7 PRD|Epidermal growth factor receptor |epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77432 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1956[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120610 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005228 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005228 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 DBL|UNIGENE:Hs.77432 |OMIM:131550 |SNP:1956 ENZ|EC:2.7.1.112 |epidermal growth factor receptor activity ; GO:0005006 |ATP binding ; GO:0005524 |electron transporter activity ; GO:0005489 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|7p12 CEL|endosome ; GO:0005768 |cytoskeleton ; GO:0005856 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 2130; expect == 0.0; MEOW:ref|XP_346469.1| (90%) |species == Human; gene == ERBB4; score == 1231; expect == 0.0; MEOW:HUgn0002066 (50%) |species == Mouse; gene == Egfr; score == 1196; expect == 0.0; MEOW:MGgn0003731 (88%) |species == Human; gene == ERBB2; score == 1159; expect == 0.0; MEOW:HUgn0002064 (49%) |species == Fruitfly; gene == Egfr; score == 467; expect == 1e-131; MEOW:FBgn0003731 (40%) |species == Mosquito; gene == LOC18805; score == 450; expect == 2e-126; MEOW:AGgn0018805 (46%) |species == Mosquito; gene == LOC24883; score == 450; expect == 2e-126; MEOW:AGgn0024883 (46%) |species == Worm; gene == let-23; score == 298; expect == 1.5e-80; MEOW:CEgn0001128 (29%) |species == Zfish; gene == rtk6; score == 200; expect == 1.8e-52; MEOW:ZFgn0000380 (37%) |species == Zfish; gene == ptk2; score == 198; expect == 1.2e-51; MEOW:ZFgn0002424 (39%) |species == Zfish; gene == ek1; score == 194; expect == 1.3e-50; MEOW:ZFgn0000466 (37%) |species == Zfish; gene == ret1; score == 191; expect == 1.1e-49; MEOW:ZFgn0000090 (36%) |species == Zfish; gene == rtk4; score == 191; expect == 1.1e-49; MEOW:ZFgn0000378 (37%) |species == Zfish; gene == rtk8; score == 187; expect == 1.6e-48; MEOW:ZFgn0000381 (35%) |species == Zfish; gene == ephb4a; score == 186; expect == 3.5e-48; MEOW:ZFgn0000379 (36%) |species == Zfish; gene == ek2; score == 183; expect == 3.9e-47; MEOW:ZFgn0000467 (35%) |species == Zfish; gene == ek3; score == 183; expect == 2.3e-47; MEOW:ZFgn0000468 (35%) |species == Zfish; gene == fgfr4; score == 181; expect == 1.5e-46; MEOW:ZFgn0000165 (34%) |species == Weed; gene == At4g35780; score == 141; expect == 3.4e-33; MEOW:ATgn0017130 (31%) |species == Weed; gene == At4g38470; score == 137; expect == 2.9e-32; MEOW:ATgn0020261 (32%) |species == rice; score == 135; expect == 4.2e-31; MEOW:gnl|TIGR|8357.m03093 (31%) |species == Weed; gene == At2g17700; score == 134; expect == 4.2e-31; MEOW:ATgn0028393 (32%) |species == chimp; score == 131; expect == 4.6e-32; MEOW:sp|BAC78172|BAC78172 (33%) } # EOR GENR { RETE|ID 1 HUgn0001957 CHR 1 8 DID 1 LocusLink:1957 MAP 1 8q24 NAM 1 epilepsy, generalized, idiopathic ORG 1 Homo sapiens SYM 1 EGI ID|HUgn0001957 DID|LocusLink:1957 ORG|Homo sapiens SYM|EGI NAM|epilepsy, generalized, idiopathic CHR|8 DBL|OMIM:606970 MAP|8q24 PHP|Epilepsy, generalized, idiopathic URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128830 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html } # EOR GENR { RETE|ID 1 HUgn0001958 CHR 1 5 DID 1 LocusLink:1958 MAP 1 5q31.1 NAM 1 early growth response 1 ORG 1 Homo sapiens SYM 1 EGR1 ID|HUgn0001958 DID|LocusLink:1958 ORG|Homo sapiens RSQ|REFSEQ:NM_001964 RPA|REFPROT:NP_001955 DBA|XM:NM_001964 |NA:BC041701 |NA:M24019 |NA:M62829 |NA:M80583 |NA:X52541 |NA:none PAC|XP:NP_001955 SYM|EGR1 NAM|early growth response 1 SYN|TIS8 |AT225 |NGFI-A |ZNF225 |KROX-24 |ZIF-268 FNC|early growth response 1 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger |proteins. It is a nuclear protein and functions as a transcriptional regulator. |The products of target genes it activates are required for differentitation and |mitogenesis. Studies suggest this is a cancer suppresor gene. CHR|5 PRD|G0S30 |zinc finger protein 225 |transcription factor ETR103 |nerve growth factor-induced protein A URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326035 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1958[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119863 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001964 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001964 DBL|UNIGENE:Hs.326035 |OMIM:128990 |SNP:1958 MAP|5q31.1 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Egr1; score == 793; expect == 0.0; MEOW:MGgn0003735 (88%) |species == rat; score == 747; expect == 0.0; MEOW:ref|NP_036683.1| (88%) |species == Zfish; gene == egr1; score == 501; expect == 3e-142; MEOW:ZFgn0000092 (56%) |species == Human; gene == EGR3; score == 287; expect == 6.0e-78; MEOW:HUgn0001960 (50%) |species == Human; gene == EGR2; score == 251; expect == 9.5e-67; MEOW:HUgn0001959 (43%) |species == Mosquito; gene == LOC22657; score == 216; expect == 1.1e-56; MEOW:AGgn0022657 (63%) |species == Fruitfly; gene == sr; score == 215; expect == 1.1e-55; MEOW:FBgn0003499 (76%) |species == Worm; gene == C27C12.2; score == 178; expect == 5.4e-45; MEOW:CEgn0005491 (62%) |species == Worm; gene == Y55F3AM.7; score == 169; expect == 3.4e-42; MEOW:CEgn0022390 (64%) } # EOR GENR { RETE|ID 1 HUgn0001959 CHR 1 10 DID 1 LocusLink:1959 MAP 1 10q21.1 NAM 1 early growth response 2 (Krox-20 homolog, Drosophila) ORG 1 Homo sapiens SYM 1 EGR2 ID|HUgn0001959 DID|LocusLink:1959 ORG|Homo sapiens RSQ|REFSEQ:NM_000399 RPA|REFPROT:NP_000390 DBA|XM:NM_000399 |NA:AL133417 |NA:X53700 |NA:AF139463 |NA:AK091399 |NA:BC035625 |NA:J04076 |NA:none PAC|XP:NP_000390 SYM|EGR2 NAM|early growth response 2 (Krox-20 homolog, Drosophila) SYN|CMT1D |CMT4E |KROX20 FNC|early growth response 2 protein |mechanosensory behavior ; GO:0007638 |brain development ; GO:0007420 |peripheral nervous system development ; GO:0007422 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The early growth response protein 2 is a transcription factor with three tandem C2H2-type |zinc fingers. Mutations in this gene are associated with the autosomal dominant |Charcot-Marie-Tooth disease, type 1. CHR|10 PRD|Krox-20 homolog |KROX-20, Drosophila, homolog (early growth response-2) |early growth response 2 (Krox-20 (Drosophila) homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1395 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1959[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120611 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000399 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000399 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1395 |http://www.geneclinics.org/query?mim=129010 |http://molgen-www.uia.ac.be/CMTMutations/ DBL|UNIGENE:Hs.1395 |OMIM:129010 |SNP:1959 MAP|10q21.1 PHP|Charcot-Marie-Tooth disease, type 1D |Dejerine-Sottas neuropathy |Neuropathy, congenital hypomyelinating, 1 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 689; expect == 0.0; MEOW:ref|NP_446085.1| (90%) |species == Mouse; gene == Egr2; score == 598; expect == 2e-171; MEOW:MGgn0003736 (90%) |species == Zfish; gene == egr2b; score == 490; expect == 9e-139; MEOW:ZFgn0000076 (63%) |species == Human; gene == EGR3; score == 340; expect == 7.9e-94; MEOW:HUgn0001960 (48%) |species == Mosquito; gene == LOC22657; score == 212; expect == 4.7e-55; MEOW:AGgn0022657 (78%) |species == Fruitfly; gene == sr; score == 211; expect == 1.5e-54; MEOW:FBgn0003499 (78%) |species == Worm; gene == C27C12.2; score == 178; expect == 4.6e-45; MEOW:CEgn0005491 (83%) |species == Worm; gene == Y55F3AM.7; score == 166; expect == 2.2e-41; MEOW:CEgn0022390 (71%) } # EOR GENR { RETE|ID 1 HUgn0001960 CHR 1 8 DID 1 LocusLink:1960 MAP 1 8p23-p21 NAM 1 early growth response 3 ORG 1 Homo sapiens SYM 1 EGR3 ID|HUgn0001960 DID|LocusLink:1960 ORG|Homo sapiens RSQ|REFSEQ:NM_004430 RPA|REFPROT:NP_004421 DBA|XM:NM_004430 |NA:N66802 |NA:S40832 |NA:X63741 |NA:none PAC|XP:NP_004421 SYM|EGR3 NAM|early growth response 3 SYN|PILOT FNC|early growth response 3 |circadian rhythm ; GO:0007623 |muscle development ; GO:0007517 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type |zinc-finger proteins. It is an immediate-early growth response gene which is induced |by mitogenic stimulation. The protein encoded by this gene participates in the |transcriptional regulation of genes in controling biological rhythm. It may also |plays a role in muscle development. CHR|8 PRD|zinc finger protein pilot URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74088 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1960[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129027 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004430 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004430 DBL|UNIGENE:Hs.74088 |OMIM:602419 |SNP:1960 MAP|8p23-p21 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Egr3; score == 803; expect == 0.0; MEOW:MGgn0003737 (98%) |species == rat; score == 802; expect == 0.0; MEOW:ref|NP_058782.1| (98%) |species == Zfish; gene == egr2b; score == 369; expect == 1e-103; MEOW:ZFgn0000076 (51%) |species == rat; score == 348; expect == 2.9e-96; MEOW:ref|NP_446085.1| (49%) |species == Human; gene == EGR2; score == 340; expect == 7.9e-94; MEOW:HUgn0001959 (48%) |species == Mouse; gene == Egr2; score == 322; expect == 1.5e-88; MEOW:MGgn0003736 (51%) |species == Human; gene == EGR1; score == 287; expect == 6.0e-78; MEOW:HUgn0001958 (50%) |species == Mouse; gene == Egr1; score == 285; expect == 1.5e-77; MEOW:MGgn0003735 (48%) |species == rat; score == 285; expect == 3.0e-77; MEOW:ref|NP_036683.1| (48%) |species == Mosquito; gene == LOC22657; score == 222; expect == 1.8e-58; MEOW:AGgn0022657 (56%) |species == Fruitfly; gene == sr; score == 220; expect == 3.3e-57; MEOW:FBgn0003499 (82%) |species == Worm; gene == C27C12.2; score == 174; expect == 3.9e-44; MEOW:CEgn0005491 (80%) |species == Worm; gene == Y55F3AM.7; score == 161; expect == 3.4e-40; MEOW:CEgn0022390 (65%) } # EOR GENR { RETE|ID 1 HUgn0001961 CHR 1 2 DID 1 LocusLink:1961 MAP 1 2p13 NAM 1 early growth response 4 ORG 1 Homo sapiens SYM 1 EGR4 ID|HUgn0001961 DID|LocusLink:1961 ORG|Homo sapiens RSQ|REFSEQ:NM_001965 RPA|REFPROT:NP_001956 DBA|XM:NM_001965 |NA:X69438 |NA:X60104 |NA:none PAC|XP:NP_001956 SYM|EGR4 NAM|early growth response 4 SYN|NGFIC |NGFI-C |PAT133 FNC|early growth response 4 |positive regulation of cell proliferation ; GO:0008284 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3052 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1961[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129026 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001965 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001965 DBL|UNIGENE:Hs.3052 |OMIM:128992 |SNP:1961 MAP|2p13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 689; expect == 0.0; MEOW:ref|NP_062010.1| (82%) |species == Mouse; gene == Egr4; score == 684; expect == 0.0; MEOW:MGgn0003738 (83%) |species == Human; gene == EGR1; score == 172; expect == 2.9e-43; MEOW:HUgn0001958 (75%) |species == Zfish; gene == egr1; score == 170; expect == 1.5e-42; MEOW:ZFgn0000092 (72%) |species == Mosquito; gene == LOC22657; score == 169; expect == 2.3e-42; MEOW:AGgn0022657 (75%) |species == Fruitfly; gene == sr; score == 169; expect == 1.1e-41; MEOW:FBgn0003499 (75%) |species == Human; gene == EGR3; score == 169; expect == 1.8e-42; MEOW:HUgn0001960 (62%) |species == Human; gene == EGR2; score == 167; expect == 1.2e-41; MEOW:HUgn0001959 (76%) |species == Zfish; gene == egr2b; score == 167; expect == 6.3e-43; MEOW:ZFgn0000076 (76%) |species == Worm; gene == C27C12.2; score == 149; expect == 1.8e-36; MEOW:CEgn0005491 (75%) |species == Worm; gene == Y55F3AM.7; score == 144; expect == 1.2e-34; MEOW:CEgn0022390 (68%) } # EOR GENR { RETE|ID 1 HUgn0001962 CHR 1 3 DID 1 LocusLink:1962 MAP 1 3q26.3-q28 NAM 1 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase ORG 1 Homo sapiens SYM 1 EHHADH ID|HUgn0001962 DID|LocusLink:1962 ORG|Homo sapiens RSQ|REFSEQ:NM_001966 RPA|REFPROT:NP_001957 DBA|XM:NM_001966 |NA:BC011030 |NA:BC030982 |NA:BC038948 |NA:L07077 |NA:none PAC|XP:NP_001957 SYM|EHHADH NAM|enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase SYN|LBP |LBFP |PBFE FNC|enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432443 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1962[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141631 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001966 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001966 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=1962 |http://www.geneclinics.org/query?mim=261515 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.432443 |OMIM:607037 |SNP:1962 ENZ|EC:5.3.3.8 |EC:1.1.1.35 |EC:4.2.1.17 |enoyl-CoA hydratase activity ; GO:0004300 |3-hydroxyacyl-CoA dehydrogenase activity ; GO:0003857 |dodecenoyl-CoA delta-isomerase activity ; GO:0004165 |oxidoreductase activity ; GO:0016491 |lyase activity ; GO:0016829 |isomerase activity ; GO:0016853 MAP|3q26.3-q28 CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1088; expect == 0.0; MEOW:ref|NP_598290.1| (77%) |species == Mouse; gene == 1300002P22Rik; score == 1069; expect == 0.0; MEOW:MGgn0016609 (77%) |species == Weed; gene == AIM1; score == 352; expect == 5.5e-97; MEOW:ATgn0020089 (34%) |species == rice; score == 340; expect == 1.8e-93; MEOW:gnl|TIGR|8353.m00501 (32%) |species == Weed; gene == MFP2; score == 339; expect == 2.9e-93; MEOW:ATgn0016893 (32%) |species == rice; score == 336; expect == 7.0e-92; MEOW:gnl|TIGR|8350.m02277 (32%) |species == rice; score == 315; expect == 1.7e-85; MEOW:gnl|TIGR|8351.m01571 (32%) |species == rice; score == 302; expect == 4.2e-82; MEOW:gnl|TIGR|8353.m02560 (32%) |species == ecoli; score == 280; expect == 2.7e-75; MEOW:ref|NP_418288.1| (28%) |species == Worm; gene == T08B2.7a; score == 275; expect == 4.5e-74; MEOW:CEgn0028069 (32%) |species == Worm; gene == T08B2.7b; score == 275; expect == 4.5e-74; MEOW:CEgn0028070 (32%) |species == Human; gene == HADHA; score == 268; expect == 6.2e-72; MEOW:HUgn0003030 (30%) |species == Worm; gene == C29F3.1; score == 266; expect == 1.6e-71; MEOW:CEgn0005594 (30%) |species == ecoli; score == 265; expect == 7.9e-72; MEOW:ref|NP_416843.1| (31%) |species == Fruitfly; gene == CG4389; score == 264; expect == 8.9e-71; MEOW:FBgn0028479 (30%) |species == Mosquito; score == 256; expect == 1.8e-68; MEOW:AGgn0010297 (30%) |species == Human; gene == LOC94468; score == 253; expect == 2.7e-67; MEOW:HUgn0094468 (29%) |species == Worm; gene == T08B2.7c; score == 245; expect == 5.0e-65; MEOW:CEgn0030467 (33%) } # EOR GENR { RETE|ID 1 HUgn0001963 DID 1 LocusLink:1963 NAM 1 eukaryotic translation initiation factor 1 ORG 1 Homo sapiens SYM 1 EIF1 ID|HUgn0001963 DID|LocusLink:1963 ORG|Homo sapiens SYM|EIF1 NAM|eukaryotic translation initiation factor 1 SYN|EIF-1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:126357 } # EOR GENR { RETE|ID 1 HUgn0001964 CHR 1 X DID 1 LocusLink:1964 MAP 1 Xp22.13 NAM 1 eukaryotic translation initiation factor 1A ORG 1 Homo sapiens SYM 1 EIF1A ID|HUgn0001964 DID|LocusLink:1964 ORG|Homo sapiens RSQ|REFSEQ:NM_001412 RPA|REFPROT:NP_001403 DBA|XM:NM_001412 |NA:AL079283 |NA:AL832930 |NA:BC000793 |NA:BC047573 |NA:BM467724 |NA:BT007064 |NA:L18960 PAC|XP:NP_001403 SYM|EIF1A NAM|eukaryotic translation initiation factor 1A SYN|EIF4C |EIF1AX |eIF-1A |eIF-4C FNC|eukaryotic translation initiation factor 1A |translational initiation ; GO:0006413 REAB|This gene encodes an essential eukaryotic translation initiation factor. The protein |is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi |and eIF3) to the 5' end of capped RNA. CHR|X PRD|eukaryotic translation initiation factor 4C |eukaryotic translation initiation factor 1A, X chromosome URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147824 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=522897 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1964[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:306309 |http://www.gdb.org/gdb-bin/genera/accno?GDB:10794640 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001412 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001412 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=147824 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=522897 DBL|UNIGENE:Hs.147824 |UNIGENE:Hs.522897 |OMIM:300186 |SNP:1964 MAP|Xp22.13 ENZ|translation factor activity, nucleic acid binding ; GO:0008135 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == Mouse; gene == 1500010B24Rik; score == 202; expect == 3.4e-53; MEOW:MGgn0016801 (100%) |species == rat; score == 202; expect == 5.0e-53; MEOW:ref|XP_217622.1| (100%) |species == rat; score == 201; expect == 1.4e-52; MEOW:ref|XP_228399.1| (97%) |species == Human; gene == EIF1AY; score == 198; expect == 7.2e-52; MEOW:HUgn0009086 (97%) |species == Mouse; gene == Eif1a; score == 197; expect == 1.1e-51; MEOW:MGgn0003746 (96%) |species == Mosquito; gene == LOC16723; score == 177; expect == 1.4e-45; MEOW:AGgn0016723 (74%) |species == Fruitfly; gene == eIF-1A; score == 166; expect == 1.9e-42; MEOW:FBgn0026250 (83%) |species == rice; score == 165; expect == 6.6e-42; MEOW:gnl|TIGR|8351.m01827 (66%) |species == Weed; gene == At2g04520; score == 164; expect == 1.5e-41; MEOW:ATgn0009045 (76%) |species == Yeast; gene == TIF11; score == 164; expect == 1.3e-41; MEOW:SGgn0004873 (65%) |species == Weed; gene == At5g35680; score == 163; expect == 2.6e-41; MEOW:ATgn0022136 (76%) |species == rice; score == 162; expect == 7.4e-41; MEOW:gnl|TIGR|8354.m02209 (66%) |species == Worm; gene == H06H21.3; score == 159; expect == 1.1e-39; MEOW:CEgn0012650 (65%) } # EOR GENR { RETE|ID 1 HUgn0001965 CHR 1 14 DID 1 LocusLink:1965 MAP 1 14q24.1 NAM 1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa ORG 1 Homo sapiens SYM 1 EIF2S1 ID|HUgn0001965 DID|LocusLink:1965 ORG|Homo sapiens RSQ|REFSEQ:NM_004094 RPA|REFPROT:NP_004085 DBA|XM:NM_004094 |NA:BC002513 |NA:J02645 |NA:none PAC|XP:NP_004085 SYM|EIF2S1 NAM|eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa SYN|EIF2 |EIF-2 |EIF2A |EIF-2A |EIF-2alpha FNC|eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa |regulation of translation ; GO:0006445 |regulation of protein biosynthesis ; GO:0006417 CHR|14 PRD|eIF-2-alpha |eukaryotic translation initiation factor 2A |eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=151777 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1965[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126359 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004094 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004094 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=151777 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27695 DBL|UNIGENE:Hs.151777 |OMIM:603907 |SNP:1965 MAP|14q24.1 ENZ|translation initiation factor activity ; GO:0003743 |RNA binding ; GO:0003723 CEL|polysome ; GO:0005844 HG|species == Mouse; gene == Eif2s1; score == 547; expect == 2e-156; MEOW:MGgn0003747 (98%) |species == rat; score == 547; expect == 3e-156; MEOW:ref|NP_062229.1| (98%) |species == Mosquito; gene == LOC11259; score == 360; expect == 4e-100; MEOW:AGgn0011259 (68%) |species == Fruitfly; gene == eIF-2&agr;; score == 329; expect == 6.2e-91; MEOW:FBgn0004925 (62%) |species == Worm; gene == Y37E3.10; score == 304; expect == 3.3e-83; MEOW:CEgn0028249 (58%) |species == Yeast; gene == SUI2; score == 280; expect == 6.9e-76; MEOW:SGgn0003767 (54%) |species == rice; score == 274; expect == 5.8e-74; MEOW:gnl|TIGR|8360.m01691 (49%) |species == Weed; gene == At2g40290; score == 255; expect == 3.7e-68; MEOW:ATgn0028423 (47%) |species == rice; score == 244; expect == 9.7e-65; MEOW:gnl|TIGR|8355.m04716 (48%) |species == Weed; gene == At5g05470; score == 234; expect == 4.6e-62; MEOW:ATgn0025421 (45%) } # EOR GENR { RETE|ID 1 HUgn0001967 CHR 1 12 DID 1 LocusLink:1967 MAP 1 12q24.31 NAM 1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa ORG 1 Homo sapiens SYM 1 EIF2B1 ID|HUgn0001967 DID|LocusLink:1967 ORG|Homo sapiens RSQ|REFSEQ:NM_001414 RPA|REFPROT:NP_001405 DBA|XM:NM_001414 |NA:X95648 |NA:none PAC|XP:NP_001405 SYM|EIF2B1 NAM|eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa SYN|EIF2B |EIF-2B |EIF2BA |EIF-2Balpha FNC|eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa |translational initiation ; GO:0006413 CHR|12 PRD|eukaryotic translation initiation factor 2B; eIF-2-beta |eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78592 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1967[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126361 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001414 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001414 |http://www.geneclinics.org/query?mim=606686 DBL|UNIGENE:Hs.78592 |OMIM:606686 |SNP:1967 MAP|12q24.31 PHP|Leukoencephalopathy with vanishing white matter ENZ|translation initiation factor activity ; GO:0003743 |GTP binding ; GO:0005525 |guanyl-nucleotide exchange factor activity ; GO:0005085 CEL|eukaryotic translation initiation factor 2B complex ; GO:0005851 HG|species == Mouse; gene == Eif2b1; score == 511; expect == 2e-145; MEOW:MGgn0043886 (94%) |species == rat; score == 511; expect == 1e-145; MEOW:ref|NP_742026.1| (92%) |species == Fruitfly; gene == eIF2B-&agr;; score == 280; expect == 5.2e-76; MEOW:FBgn0039726 (50%) |species == Mosquito; gene == LOC19638; score == 276; expect == 7.8e-75; MEOW:AGgn0019638 (48%) |species == Mosquito; gene == LOC11855; score == 246; expect == 1.0e-65; MEOW:AGgn0011855 (46%) |species == Worm; gene == ZK1098.4; score == 241; expect == 2.8e-64; MEOW:CEgn0021398 (42%) |species == Mosquito; score == 234; expect == 3.2e-62; MEOW:AGgn0012082 (55%) |species == Yeast; gene == GCN3; score == 223; expect == 1.0e-58; MEOW:SGgn0001734 (41%) |species == Weed; gene == At1g72340; score == 218; expect == 5.8e-57; MEOW:ATgn0004230 (44%) |species == rice; score == 206; expect == 2.8e-53; MEOW:gnl|TIGR|8359.m02950 (45%) |species == Weed; gene == At1g53880; score == 197; expect == 2.0e-50; MEOW:ATgn0006759 (44%) |species == Weed; gene == At1g53900; score == 197; expect == 2.0e-50; MEOW:ATgn0027305 (44%) } # EOR GENR { RETE|ID 1 HUgn0001968 CHR 1 X DID 1 LocusLink:1968 MAP 1 Xp22.2-p22.1 NAM 1 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa ORG 1 Homo sapiens SYM 1 EIF2S3 ID|HUgn0001968 DID|LocusLink:1968 ORG|Homo sapiens RSQ|REFSEQ:NM_001415 RPA|REFPROT:NP_001406 DBA|XM:NM_001415 |NA:BC011945 |NA:BC019906 |NA:L19161 |NA:none PAC|XP:NP_001406 SYM|EIF2S3 NAM|eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa SYN|EIF2 |EIF2G |EIF2gamma FNC|eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa |protein biosynthesis ; GO:0006412 CHR|X PRD|eukaryotic translation initiation factor 2G |eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=480368 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1968[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:306330 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001415 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001415 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=480368 DBL|UNIGENE:Hs.480368 |OMIM:300161 |SNP:1968 MAP|Xp22.2-p22.1 ENZ|translation initiation factor activity ; GO:0003743 |GTP binding ; GO:0005525 |protein-synthesizing GTPase activity ; GO:0008547 CEL|cytosolic small ribosomal subunit (sensu Eukarya) ; GO:0005843 |eukaryotic translation initiation factor 2 complex ; GO:0005850 HG|species == rat; score == 932; expect == 0.0; MEOW:ref|XP_216704.2| (99%) |species == Mouse; gene == Eif2s3x; score == 931; expect == 0.0; MEOW:MGgn0003751 (99%) |species == Human; gene == LOC255308; score == 922; expect == 0.0; MEOW:HUgn0255308 (98%) |species == Mouse; gene == Eif2s3y; score == 916; expect == 0.0; MEOW:MGgn0003754 (97%) |species == Mosquito; gene == LOC11873; score == 746; expect == 0.0; MEOW:AGgn0011873 (84%) |species == Worm; gene == Y39G10AR.8; score == 701; expect == 0.0; MEOW:CEgn0028319 (75%) |species == rice; score == 684; expect == 0.0; MEOW:gnl|TIGR|8359.m03952 (74%) |species == Yeast; gene == GCD11; score == 672; expect == 0.0; MEOW:SGgn0000827 (73%) |species == rice; score == 672; expect == 0.0; MEOW:gnl|TIGR|8359.m00673 (71%) |species == Weed; gene == At1g04170; score == 666; expect == 0.0; MEOW:ATgn0005412 (72%) |species == Weed; gene == At2g18720; score == 612; expect == 1e-175; MEOW:ATgn0008703 (66%) } # EOR GENR { RETE|ID 1 HUgn0001969 CHR 1 1 DID 1 LocusLink:1969 MAP 1 1p36 NAM 1 EphA2 ORG 1 Homo sapiens SYM 1 EPHA2 ID|HUgn0001969 DID|LocusLink:1969 ORG|Homo sapiens RSQ|REFSEQ:NM_004431 RPA|REFPROT:NP_004422 DBA|XM:NM_004431 |NA:BC008655 |NA:BC037166 |NA:CB991812 |NA:M59371 |NA:none PAC|XP:NP_004422 SYM|EPHA2 NAM|EphA2 SYN|ECK FNC|ephrin receptor EphA2 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds |ephrin-A ligands. CHR|1 PRD|epithelial cell receptor protein tyrosine kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171596 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1969[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126726 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004431 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004431 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171596 DBL|UNIGENE:Hs.171596 |OMIM:176946 |SNP:1969 ENZ|EC:2.7.1.112 MAP|1p36 HG|species == rat; score == 1698; expect == 0.0; MEOW:ref|XP_345597.1| (92%) |species == Mouse; gene == Epha2; score == 1697; expect == 0.0; MEOW:MGgn0003925 (90%) |species == Human; gene == EPHA5; score == 980; expect == 0.0; MEOW:HUgn0002044 (51%) |species == Human; gene == EPHA7; score == 969; expect == 0.0; MEOW:HUgn0002045 (50%) |species == Human; gene == EPHA3; score == 954; expect == 0.0; MEOW:HUgn0002042 (51%) |species == Human; gene == EPHA4; score == 950; expect == 0.0; MEOW:HUgn0002043 (51%) |species == Human; gene == EPHA8; score == 892; expect == 0.0; MEOW:HUgn0002046 (47%) |species == Human; gene == EPHB2; score == 885; expect == 0.0; MEOW:HUgn0002048 (48%) |species == Zfish; gene == rtk4; score == 877; expect == 0.0; MEOW:ZFgn0000378 (52%) |species == Human; gene == EPHA1; score == 865; expect == 0.0; MEOW:HUgn0002041 (48%) |species == Human; gene == EPHB1; score == 862; expect == 0.0; MEOW:HUgn0002047 (47%) |species == Human; gene == EPHB3; score == 853; expect == 0.0; MEOW:HUgn0002049 (48%) |species == Zfish; gene == ephb4a; score == 752; expect == 0.0; MEOW:ZFgn0000379 (45%) |species == Zfish; gene == rtk8; score == 745; expect == 0.0; MEOW:ZFgn0000381 (45%) |species == Zfish; gene == rtk6; score == 740; expect == 0.0; MEOW:ZFgn0000380 (58%) |species == Mosquito; score == 652; expect == 0.0; MEOW:AGgn0007421 (39%) |species == Fruitfly; gene == Eph; score == 612; expect == 3e-175; MEOW:FBgn0025936 (37%) |species == Worm; gene == vab-1; score == 322; expect == 5.9e-88; MEOW:CEgn0003021 (42%) |species == chimp; score == 173; expect == 6.5e-45; MEOW:sp|BAC78172|BAC78172 (37%) |species == Weed; gene == At4g35780; score == 153; expect == 5.3e-37; MEOW:ATgn0017130 (31%) |species == rice; score == 152; expect == 2.6e-36; MEOW:gnl|TIGR|8357.m03093 (33%) |species == rice; score == 143; expect == 9.2e-34; MEOW:gnl|TIGR|8352.m05524 (31%) |species == rice; score == 142; expect == 2.7e-33; MEOW:gnl|TIGR|8355.m02702 (32%) |species == Weed; gene == At1g14000; score == 140; expect == 3.5e-33; MEOW:ATgn0001951 (34%) |species == Weed; gene == At4g31170; score == 138; expect == 1.8e-32; MEOW:ATgn0018674 (33%) |species == Weed; gene == At4g38470; score == 138; expect == 1.8e-32; MEOW:ATgn0020261 (31%) |species == Weed; gene == At1g04700; score == 136; expect == 8.7e-32; MEOW:ATgn0005540 (36%) |species == Weed; gene == At1g67890; score == 136; expect == 5.1e-32; MEOW:ATgn0006424 (33%) |species == rice; score == 136; expect == 1.5e-31; MEOW:gnl|TIGR|8354.m00728 (35%) |species == rice; score == 136; expect == 1.1e-31; MEOW:gnl|TIGR|8355.m04796 (33%) |species == Weed; gene == At2g24360; score == 135; expect == 1.1e-31; MEOW:ATgn0008622 (32%) |species == Weed; gene == At2g17700; score == 135; expect == 1.1e-31; MEOW:ATgn0028393 (29%) |species == rice; score == 134; expect == 7.3e-31; MEOW:gnl|TIGR|8351.m00694 (34%) |species == rice; score == 133; expect == 9.6e-31; MEOW:gnl|TIGR|8356.m01204 (30%) } # EOR GENR { RETE|ID 1 HUgn0001973 CHR 1 17 DID 1 LocusLink:1973 MAP 1 17p13 NAM 1 eukaryotic translation initiation factor 4A, isoform 1 ORG 1 Homo sapiens SYM 1 EIF4A1 ID|HUgn0001973 DID|LocusLink:1973 ORG|Homo sapiens RSQ|REFSEQ:NM_001416 RPA|REFPROT:NP_001407 DBA|XM:NM_001416 |NA:AK130082 |NA:BC006210 |NA:BC009585 |NA:BC032078 |NA:D13748 PAC|XP:NP_001407 SYM|EIF4A1 NAM|eukaryotic translation initiation factor 4A, isoform 1 SYN|DDX2A |EIF4A |EIF-4A FNC|eukaryotic translation initiation factor 4A, isoform 1 |binding to mRNA cap ; GO:0006441 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129673 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1973[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126409 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001416 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001416 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=129673 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27710 DBL|UNIGENE:Hs.129673 |OMIM:602641 |SNP:1973 MAP|17p13 PHP|Translation initiation factor 4A1 isoform 1; mediates the interaction between mRNA and the 40S ribosomal subunit; putative murine ortholog Eif4a1 ENZ|mRNA binding ; GO:0003729 |helicase activity ; GO:0004386 |translation factor activity, nucleic acid binding ; GO:0008135 |adenosinetriphosphatase activity ; GO:0004002 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == Mouse; gene == Eif4a1; score == 770; expect == 0.0; MEOW:MGgn0003767 (100%) |species == rat; score == 770; expect == 0.0; MEOW:ref|XP_213364.2| (100%) |species == rat; score == 705; expect == 0.0; MEOW:ref|XP_221325.2| (91%) |species == Human; gene == EIF4A2; score == 703; expect == 0.0; MEOW:HUgn0001974 (89%) |species == Mouse; gene == Eif4a2; score == 686; expect == 0.0; MEOW:MGgn0003768 (88%) |species == Human; gene == LOC341784; score == 674; expect == 0.0; MEOW:HUgn0341784 (88%) |species == Fruitfly; gene == eIF-4a; score == 570; expect == 3e-163; MEOW:FBgn0001942 (73%) |species == Mosquito; gene == LOC14802; score == 569; expect == 5e-163; MEOW:AGgn0014802 (74%) |species == Mosquito; gene == LOC23201; score == 569; expect == 5e-163; MEOW:AGgn0023201 (74%) |species == rice; score == 566; expect == 7e-162; MEOW:gnl|TIGR|8354.m04564 (73%) |species == rice; score == 564; expect == 4e-161; MEOW:gnl|TIGR|8351.m00438 (73%) |species == Weed; gene == At1g72730; score == 556; expect == 8e-159; MEOW:ATgn0005079 (70%) |species == Worm; gene == inf-1; score == 555; expect == 2e-158; MEOW:CEgn0000970 (71%) |species == Weed; gene == At1g54270; score == 552; expect == 2e-157; MEOW:ATgn0006903 (71%) |species == Weed; gene == At3g13920; score == 552; expect == 2e-157; MEOW:ATgn0012369 (70%) |species == Mosquito; score == 547; expect == 3e-156; MEOW:AGgn0020417 (71%) |species == Fruitfly; gene == CG7483; score == 545; expect == 1e-155; MEOW:FBgn0037573 (71%) |species == rice; score == 526; expect == 1e-149; MEOW:gnl|TIGR|8360.m03291 (63%) |species == Worm; gene == F33D11.10; score == 505; expect == 2e-143; MEOW:CEgn0009892 (67%) |species == Worm; gene == Y65B4A.6; score == 505; expect == 1e-143; MEOW:CEgn0028637 (68%) |species == Weed; gene == At3g19760; score == 503; expect == 6e-143; MEOW:ATgn0012323 (62%) |species == rice; score == 501; expect == 3e-142; MEOW:gnl|TIGR|8350.m04131 (61%) |species == Yeast; gene == TIF1; score == 479; expect == 2e-136; MEOW:SGgn0001767 (66%) |species == Yeast; gene == TIF2; score == 479; expect == 2e-136; MEOW:SGgn0003674 (66%) |species == Yeast; gene == FAL1; score == 458; expect == 3e-129; MEOW:SGgn0002428 (60%) |species == Weed; gene == At1g51380; score == 456; expect == 8e-129; MEOW:ATgn0002676 (59%) |species == Zfish; gene == ddx19; score == 262; expect == 3.6e-70; MEOW:ZFgn0002581 (39%) |species == chimp; score == 255; expect == 3.8e-68; MEOW:sp|BAB83886|BAB83886 (37%) |species == chimp; score == 255; expect == 3.8e-68; MEOW:sp|BAC78161|BAC78161 (37%) |species == ecoli; score == 234; expect == 1.0e-62; MEOW:ref|NP_417631.1| (37%) |species == ecoli; score == 206; expect == 2.9e-54; MEOW:ref|NP_415318.1| (32%) |species == ecoli; score == 188; expect == 4.8e-49; MEOW:ref|NP_415859.1| (34%) } # EOR GENR { RETE|ID 1 HUgn0001974 CHR 1 3 DID 1 LocusLink:1974 MAP 1 3q28 NAM 1 eukaryotic translation initiation factor 4A, isoform 2 ORG 1 Homo sapiens SYM 1 EIF4A2 ID|HUgn0001974 DID|LocusLink:1974 ORG|Homo sapiens RSQ|REFSEQ:NM_001967 RPA|REFPROT:NP_001958 DBA|XM:NM_001967 |NA:AF208852 |NA:AK130087 |NA:AL117412 |NA:AL137681 |NA:BC006469 |NA:BC012547 |NA:BC013708 |NA:BC015842 |NA:BC016295 |NA:BC039344 |NA:BC048105 |NA:BT009860 |NA:D30655 |NA:S79942 PAC|XP:NP_001958 SYM|EIF4A2 NAM|eukaryotic translation initiation factor 4A, isoform 2 SYN|DDX2B |EIF4A |EIF4F |BM-010 FNC|eukaryotic translation initiation factor 4A, isoform 2 |regulation of translational initiation ; GO:0006446 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511904 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1974[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001967 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001967 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511904 DBL|UNIGENE:Hs.511904 |OMIM:601102 |SNP:1974 MAP|3q28 PHP|Translation initiation factor 4A2 isoform 2; involved in the binding of mRNA to the ribosome; contains a conserved DEAD-box motif ENZ|helicase activity ; GO:0004386 |translation initiation factor activity ; GO:0003743 |adenosinetriphosphatase activity ; GO:0004002 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == rat; score == 760; expect == 0.0; MEOW:ref|XP_221325.2| (98%) |species == Mouse; gene == Eif4a2; score == 755; expect == 0.0; MEOW:MGgn0003768 (97%) |species == Human; gene == EIF4A1; score == 703; expect == 0.0; MEOW:HUgn0001973 (89%) |species == Mouse; gene == Eif4a1; score == 703; expect == 0.0; MEOW:MGgn0003767 (89%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_213364.2| (89%) |species == Human; gene == LOC341784; score == 641; expect == 0.0; MEOW:HUgn0341784 (82%) |species == Mosquito; gene == LOC14802; score == 577; expect == 3e-165; MEOW:AGgn0014802 (73%) |species == Mosquito; gene == LOC23201; score == 577; expect == 3e-165; MEOW:AGgn0023201 (73%) |species == Fruitfly; gene == eIF-4a; score == 571; expect == 2e-163; MEOW:FBgn0001942 (73%) |species == rice; score == 570; expect == 5e-163; MEOW:gnl|TIGR|8354.m04564 (74%) |species == rice; score == 568; expect == 1e-162; MEOW:gnl|TIGR|8351.m00438 (73%) |species == Weed; gene == At1g54270; score == 558; expect == 2e-159; MEOW:ATgn0006903 (71%) |species == Worm; gene == inf-1; score == 558; expect == 1e-159; MEOW:CEgn0000970 (71%) |species == Weed; gene == At1g72730; score == 557; expect == 3e-159; MEOW:ATgn0005079 (70%) |species == Weed; gene == At3g13920; score == 556; expect == 8e-159; MEOW:ATgn0012369 (72%) |species == Mosquito; score == 548; expect == 3e-156; MEOW:AGgn0020417 (72%) |species == Fruitfly; gene == CG7483; score == 546; expect == 7e-156; MEOW:FBgn0037573 (72%) |species == rice; score == 526; expect == 1e-149; MEOW:gnl|TIGR|8360.m03291 (65%) |species == Worm; gene == Y65B4A.6; score == 507; expect == 4e-144; MEOW:CEgn0028637 (68%) |species == Weed; gene == At3g19760; score == 506; expect == 1e-143; MEOW:ATgn0012323 (63%) |species == Worm; gene == F33D11.10; score == 506; expect == 7e-144; MEOW:CEgn0009892 (68%) |species == rice; score == 501; expect == 3e-142; MEOW:gnl|TIGR|8350.m04131 (62%) |species == Yeast; gene == TIF1; score == 470; expect == 2e-133; MEOW:SGgn0001767 (65%) |species == Yeast; gene == TIF2; score == 470; expect == 2e-133; MEOW:SGgn0003674 (65%) |species == Yeast; gene == FAL1; score == 456; expect == 1e-128; MEOW:SGgn0002428 (60%) |species == Weed; gene == At1g51380; score == 453; expect == 1e-127; MEOW:ATgn0002676 (59%) |species == Zfish; gene == ddx19; score == 258; expect == 5.2e-69; MEOW:ZFgn0002581 (39%) |species == chimp; score == 258; expect == 3.4e-69; MEOW:sp|BAB83886|BAB83886 (38%) |species == chimp; score == 258; expect == 3.4e-69; MEOW:sp|BAC78161|BAC78161 (38%) |species == ecoli; score == 233; expect == 1.3e-62; MEOW:ref|NP_417631.1| (37%) |species == ecoli; score == 201; expect == 9.4e-53; MEOW:ref|NP_415318.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0001975 CHR 1 12 DID 1 LocusLink:1975 MAP 1 12q13.13 NAM 1 eukaryotic translation initiation factor 4B ORG 1 Homo sapiens SYM 1 EIF4B ID|HUgn0001975 DID|LocusLink:1975 ORG|Homo sapiens RSQ|REFSEQ:NM_001417 RPA|REFPROT:NP_001408 DBA|XM:NM_001417 |NA:X55733 |NA:AB076839 |NA:BC007745 |NA:none PAC|XP:NP_001408 SYM|EIF4B NAM|eukaryotic translation initiation factor 4B SYN|EIF-4B FNC|eukaryotic translation initiation factor 4B |regulation of translational initiation ; GO:0006446 |protein biosynthesis ; GO:0006412 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=93379 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1975[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126410 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001417 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001417 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=93379 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27713 DBL|UNIGENE:Hs.93379 |OMIM:603928 |SNP:1975 MAP|12q13.13 ENZ|translation initiation factor activity ; GO:0003743 |RNA binding ; GO:0003723 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == rat; score == 681; expect == 0.0; MEOW:ref|XP_217058.2| (95%) |species == Human; gene == LOC139272; score == 660; expect == 0.0; MEOW:HUgn0139272 (85%) |species == Human; gene == LOC339881; score == 656; expect == 0.0; MEOW:HUgn0339881 (79%) |species == Mouse; gene == 2310046H11Rik; score == 340; expect == 9.4e-94; MEOW:MGgn0019929 (88%) } # EOR GENR { RETE|ID 1 HUgn0001977 CHR 1 4 DID 1 LocusLink:1977 MAP 1 4q21-q25 NAM 1 eukaryotic translation initiation factor 4E ORG 1 Homo sapiens SYM 1 EIF4E ID|HUgn0001977 DID|LocusLink:1977 ORG|Homo sapiens RSQ|REFSEQ:NM_001968 RPA|REFPROT:NP_001959 DBA|XM:NM_001968 |NA:BC012611 |NA:BC035166 |NA:BC043226 |NA:M15353 |NA:none PAC|XP:NP_001959 SYM|EIF4E NAM|eukaryotic translation initiation factor 4E SYN|EIF-4E |EIF4EL1 FNC|eukaryotic translation initiation factor 4E |binding to mRNA cap ; GO:0006441 |regulation of translation ; GO:0006445 |translational initiation ; GO:0006413 |regulation of protein biosynthesis ; GO:0006417 CHR|4 PRD|eukaryotic translation initiation factor 4E-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79306 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1977[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126371 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001968 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001968 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79306 DBL|UNIGENE:Hs.79306 |OMIM:133440 |SNP:1977 MAP|4q21-q25 ENZ|translation initiation factor activity ; GO:0003743 |RNA cap binding ; GO:0000339 CEL|cytoplasm ; GO:0005737 |eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == rat; score == 410; expect == 3e-115; MEOW:ref|NP_446426.1| (99%) |species == Mouse; gene == Eif4e; score == 406; expect == 3e-114; MEOW:MGgn0003770 (98%) |species == Human; gene == LOC374810; score == 360; expect == 4e-100; MEOW:HUgn0374810 (90%) |species == Worm; gene == ife-3; score == 217; expect == 3.0e-57; MEOW:CEgn0000965 (51%) |species == Fruitfly; gene == eIF-4E; score == 212; expect == 8.3e-56; MEOW:FBgn0015218 (50%) |species == Mosquito; gene == LOC18868; score == 208; expect == 1.4e-54; MEOW:AGgn0018868 (50%) |species == Mosquito; score == 203; expect == 2.9e-53; MEOW:AGgn0027711 (52%) |species == Fruitfly; gene == CG10124; score == 192; expect == 6.8e-50; MEOW:FBgn0035709 (49%) |species == Fruitfly; gene == CG32859; score == 191; expect == 1.2e-49; MEOW:FBgn0040368 (48%) |species == Fruitfly; gene == CG8277; score == 178; expect == 1.3e-45; MEOW:FBgn0035823 (43%) |species == rice; score == 145; expect == 4.5e-35; MEOW:gnl|TIGR|8350.m06941 (44%) |species == Weed; gene == At1g29550; score == 141; expect == 4.7e-34; MEOW:ATgn0004565 (36%) |species == Weed; gene == At4g18040; score == 141; expect == 4.0e-34; MEOW:ATgn0019122 (41%) |species == Weed; gene == At1g29590; score == 139; expect == 1.3e-33; MEOW:ATgn0004571 (35%) |species == rice; score == 139; expect == 1.0e-33; MEOW:gnl|TIGR|8362.m02525 (39%) |species == Weed; gene == At5g35620; score == 133; expect == 5.4e-32; MEOW:ATgn0022115 (41%) |species == Yeast; gene == CDC33; score == 131; expect == 4.0e-31; MEOW:SGgn0005499 (37%) } # EOR GENR { RETE|ID 1 HUgn0001978 CHR 1 8 DID 1 LocusLink:1978 MAP 1 8p12 NAM 1 eukaryotic translation initiation factor 4E binding protein 1 ORG 1 Homo sapiens SYM 1 EIF4EBP1 ID|HUgn0001978 DID|LocusLink:1978 ORG|Homo sapiens RSQ|REFSEQ:NM_004095 RPA|REFPROT:NP_004086 DBA|XM:NM_004095 |NA:BC004459 |NA:BC058073 |NA:L36055 PAC|XP:NP_004086 SYM|EIF4EBP1 NAM|eukaryotic translation initiation factor 4E binding protein 1 SYN|4EBP1 |PHAS-I FNC|eukaryotic translation initiation factor 4E binding protein 1 |regulation of translation ; GO:0006445 |regulation of protein biosynthesis ; GO:0006417 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406408 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1978[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:437247 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004095 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004095 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406408 DBL|UNIGENE:Hs.406408 |OMIM:602223 |SNP:1978 MAP|8p12 ENZ|protein biosynthesis inhibitor activity ; GO:0017149 HG|species == rat; score == 225; expect == 2.4e-60; MEOW:ref|NP_446309.1| (92%) |species == Mouse; gene == Eif4ebp1; score == 218; expect == 1.9e-58; MEOW:MGgn0003771 (89%) } # EOR GENR { RETE|ID 1 HUgn0001979 CHR 1 10 DID 1 LocusLink:1979 MAP 1 10q21-q22 NAM 1 eukaryotic translation initiation factor 4E binding protein 2 ORG 1 Homo sapiens SYM 1 EIF4EBP2 ID|HUgn0001979 DID|LocusLink:1979 ORG|Homo sapiens RSQ|REFSEQ:NM_004096 RPA|REFPROT:NP_004087 DBA|XM:NM_004096 |NA:BC005057 |NA:BC015007 |NA:BC050633 |NA:L36056 PAC|XP:NP_004087 SYM|EIF4EBP2 NAM|eukaryotic translation initiation factor 4E binding protein 2 SYN|4EBP2 FNC|eukaryotic translation initiation factor 4E binding protein 2 |regulation of translation ; GO:0006445 |regulation of protein biosynthesis ; GO:0006417 CHR|10 PRD|Eukaryotic translation initiation factor-4E binding protein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278712 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1979[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:437248 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004096 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004096 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278712 DBL|UNIGENE:Hs.278712 |OMIM:602224 |SNP:1979 MAP|10q21-q22 ENZ|protein biosynthesis inhibitor activity ; GO:0017149 HG|species == rat; score == 220; expect == 1.0e-58; MEOW:ref|XP_342140.1| (95%) |species == Mouse; gene == Eif4ebp2; score == 219; expect == 2.2e-58; MEOW:MGgn0003774 (95%) } # EOR GENR { RETE|ID 1 HUgn0001980 CHR 1 20 DID 1 LocusLink:1980 MAP 1 20p13 NAM 1 eukaryotic translation initiation factor 4E-like 2 ORG 1 Homo sapiens SYM 1 EIF4EL2 ID|HUgn0001980 DID|LocusLink:1980 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL109935 SYM|EIF4EL2 NAM|eukaryotic translation initiation factor 4E-like 2 SYN|dJ1022P6.3 CHR|20 DBL|OMIM:600200 |SNP:1980 MAP|20p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128010 } # EOR GENR { RETE|ID 1 HUgn0001981 CHR 1 3 DID 1 LocusLink:1981 MAP 1 3q27-qter NAM 1 eukaryotic translation initiation factor 4 gamma, 1 ORG 1 Homo sapiens SYM 1 EIF4G1 ID|HUgn0001981 DID|LocusLink:1981 ORG|Homo sapiens RSQ|REFSEQ:NM_004953 |REFSEQ:NM_182917 |REFSEQ:NM_198241 |REFSEQ:NM_198242 |REFSEQ:NM_198244 RPA|REFPROT:NP_004944 |REFPROT:NP_886553 |REFPROT:NP_937884 |REFPROT:NP_937885 |REFPROT:NP_937887 DBA|XM:NM_004953 |NA:AF002815 |NA:AF002816 |NA:AF104913 |NA:AF281070 |NA:AJ001046 |NA:AK096719 |NA:AK098133 |NA:AK128378 |NA:AL832754 |NA:AY082886 |NA:BC007788 |NA:BC010688 |NA:BT007282 |NA:BU176883 |NA:BU683097 |NA:BU944064 |NA:BX647812 |NA:D12686 PAC|XP:NP_004944 SYM|EIF4G1 NAM|eukaryotic translation initiation factor 4 gamma, 1 SYN|p220 |EIF4G FNC|eukaryotic translation initiation factor 4 gamma, 1 isoform 1 |eukaryotic translation initiation factor 4 gamma, 1 isoform 2 |eukaryotic translation initiation factor 4 gamma, 1 isoform 3 |eukaryotic translation initiation factor 4 gamma, 1 isoform 4 |regulation of translation ; GO:0006445 REAB|The protein encoded by this gene is a component of the protein complex EIF4F, which |is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal |secondary structure, and recruitment of mRNA to the ribosome. Alternative splicing |results in five transcript variants encoding four distinct isoforms. CHR|3 PRD|EIF4-gamma URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433750 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1981[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136417 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182917 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182917 DBL|UNIGENE:Hs.433750 |OMIM:600495 |SNP:1981 MAP|3q27-qter ENZ|translation factor activity, nucleic acid binding ; GO:0008135 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 HG|species == rat; score == 1760; expect == 0.0; MEOW:ref|XP_213569.2| (79%) |species == rat; score == 1757; expect == 0.0; MEOW:ref|XP_215538.2| (79%) |species == Human; gene == EIF4G3; score == 889; expect == 0.0; MEOW:HUgn0008672 (47%) |species == Mouse; gene == Eif4g1; score == 834; expect == 0.0; MEOW:MGgn0043893 (80%) |species == Fruitfly; gene == eIF-4G; score == 156; expect == 8.5e-38; MEOW:FBgn0023213 (24%) } # EOR GENR { RETE|ID 1 HUgn0001982 CHR 1 11 DID 1 LocusLink:1982 MAP 1 11p15 NAM 1 eukaryotic translation initiation factor 4 gamma, 2 ORG 1 Homo sapiens SYM 1 EIF4G2 ID|HUgn0001982 DID|LocusLink:1982 ORG|Homo sapiens RSQ|REFSEQ:NM_001418 RPA|REFPROT:NP_001409 DBA|XM:NM_001418 |NA:AB063323 |NA:BC014930 |NA:BC018746 |NA:BC018975 |NA:BC039851 |NA:BX647799 |NA:U73824 |NA:U76111 |NA:X89713 PAC|XP:NP_001409 SYM|EIF4G2 NAM|eukaryotic translation initiation factor 4 gamma, 2 SYN|p97 |DAP5 |NAT1 FNC|eukaryotic translation initiation factor 4 gamma, 2 |cell cycle arrest ; GO:0007050 |cell death ; GO:0008219 |regulation of translational initiation ; GO:0006446 |regulation of protein biosynthesis ; GO:0006417 REAB|Translation initiation is mediated by specific recognition of the cap structure by |eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein |complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded |by this gene shares similarity with the C-terminal region of eIF4G, that contains |the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site |for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent |translation, this gene product functions as a general repressor of translation by |forming translationally inactive complexes. In vitro and in vivo studies indicate |that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. CHR|11 PRD|death-associated protein 5 |eukaryotic translation initiation factor 4G-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183684 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1982[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6099614 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001418 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001418 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183684 DBL|UNIGENE:Hs.183684 |OMIM:602325 |SNP:1982 MAP|11p15 ENZ|translation initiation factor activity ; GO:0003743 |RNA binding ; GO:0003723 CEL|eukaryotic translation initiation factor 4 complex ; GO:0008304 |eukaryotic translation initiation factor 4F complex ; GO:0016281 HG|species == Mouse; gene == Eif4g2; score == 1461; expect == 0.0; MEOW:MGgn0003776 (97%) |species == rat; score == 1162; expect == 0.0; MEOW:ref|XP_223854.2| (83%) |species == rat; score == 1156; expect == 0.0; MEOW:ref|XP_218348.2| (88%) |species == Mosquito; score == 260; expect == 2.1e-69; MEOW:AGgn0003468 (41%) |species == Fruitfly; gene == l(2)01424; score == 251; expect == 1.0e-66; MEOW:FBgn0010488 (40%) |species == Human; gene == EIF4G3; score == 190; expect == 5.0e-48; MEOW:HUgn0008672 (40%) |species == rice; score == 186; expect == 4.4e-47; MEOW:gnl|TIGR|8351.m03767 (28%) |species == Weed; gene == At5g57870; score == 178; expect == 9.2e-45; MEOW:ATgn0024165 (28%) |species == rice; score == 172; expect == 1.3e-42; MEOW:gnl|TIGR|8355.m03483 (38%) |species == rice; score == 169; expect == 5.1e-42; MEOW:gnl|TIGR|8352.m03868 (36%) |species == Weed; gene == At2g24050; score == 158; expect == 1.2e-38; MEOW:ATgn0008043 (35%) |species == Weed; gene == At3g60240; score == 157; expect == 2.0e-38; MEOW:ATgn0013183 (36%) } # EOR GENR { RETE|ID 1 HUgn0001983 CHR 1 14 DID 1 LocusLink:1983 MAP 1 14q32.33 NAM 1 eukaryotic translation initiation factor 5 ORG 1 Homo sapiens SYM 1 EIF5 ID|HUgn0001983 DID|LocusLink:1983 ORG|Homo sapiens RSQ|REFSEQ:NM_001969 |REFSEQ:NM_183004 RPA|REFPROT:NP_001960 |REFPROT:NP_892116 DBA|XM:NM_001969 |NA:AK026933 |NA:AK027240 |NA:AL080102 |NA:BC000106 |NA:BC007728 |NA:BC015630 |NA:BC032866 |NA:BC041083 |NA:BF979642 |NA:BI459720 |NA:BX429104 |NA:BX537367 |NA:U49436 |NA:none PAC|XP:NP_001960 SYM|EIF5 NAM|eukaryotic translation initiation factor 5 SYN|EIF-5A FNC|eukaryotic translation initiation factor 5 |regulation of translational initiation ; GO:0006446 CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433702 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1983[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126411 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001969 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001969 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433702 DBL|UNIGENE:Hs.433702 |OMIM:601710 |SNP:1983 MAP|14q32.33 ENZ|translation initiation factor activity ; GO:0003743 |GTPase activity ; GO:0003924 |GTP binding ; GO:0005525 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Eif5; score == 682; expect == 0.0; MEOW:MGgn0003777 (96%) |species == rat; score == 681; expect == 0.0; MEOW:ref|NP_064460.1| (96%) |species == rat; score == 663; expect == 0.0; MEOW:ref|XP_212955.2| (93%) |species == rat; score == 632; expect == 0.0; MEOW:ref|XP_213037.2| (90%) |species == Fruitfly; gene == eIF5; score == 406; expect == 1e-113; MEOW:FBgn0030719 (50%) |species == Mosquito; gene == LOC11246; score == 399; expect == 1e-111; MEOW:AGgn0011246 (51%) |species == Mosquito; score == 396; expect == 8e-111; MEOW:AGgn0026610 (52%) |species == Worm; gene == C37C3.2c; score == 350; expect == 6.3e-97; MEOW:CEgn0031770 (49%) |species == Worm; gene == C37C3.2a; score == 341; expect == 5.4e-94; MEOW:CEgn0029272 (49%) |species == Worm; gene == C37C3.2b; score == 295; expect == 2.3e-80; MEOW:CEgn0029273 (44%) |species == Yeast; gene == TIF5; score == 255; expect == 4.6e-68; MEOW:SGgn0006245 (37%) |species == Weed; gene == At1g36730; score == 184; expect == 1.1e-46; MEOW:ATgn0006211 (33%) |species == rice; score == 175; expect == 4.0e-44; MEOW:gnl|TIGR|8357.m01283 (54%) |species == Weed; gene == At1g77840; score == 172; expect == 2.5e-43; MEOW:ATgn0003941 (31%) } # EOR GENR { RETE|ID 1 HUgn0001984 CHR 1 17 DID 1 LocusLink:1984 MAP 1 17p13-p12 NAM 1 eukaryotic translation initiation factor 5A ORG 1 Homo sapiens SYM 1 EIF5A ID|HUgn0001984 DID|LocusLink:1984 ORG|Homo sapiens RSQ|REFSEQ:NM_001970 RPA|REFPROT:NP_001961 DBA|XM:NM_001970 |NA:U17969 |NA:BC000751 |NA:BC001832 |NA:BC030160 |NA:M23419 |NA:none PAC|XP:NP_001961 SYM|EIF5A NAM|eukaryotic translation initiation factor 5A SYN|EIF-5A |EIF5A1 FNC|eukaryotic translation initiation factor 5A CHR|17 PRD|eIF5AI URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=310621 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1984[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126412 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001970 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001970 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=310621 DBL|UNIGENE:Hs.310621 |OMIM:600187 |SNP:1984 MAP|17p13-p12 HG|species == Mouse; gene == Eif5a; score == 311; expect == 6.0e-86; MEOW:MGgn0002437 (100%) |species == rat; score == 311; expect == 8.8e-86; MEOW:ref|XP_213368.1| (100%) |species == Human; gene == LOC143244; score == 303; expect == 1.8e-83; MEOW:HUgn0143244 (98%) |species == Human; gene == EIF5AP1; score == 302; expect == 4.1e-83; MEOW:HUgn0001985 (97%) |species == Human; gene == LOC143243; score == 300; expect == 1.6e-82; MEOW:HUgn0143243 (96%) |species == Human; gene == EIF5A2; score == 265; expect == 9.3e-72; MEOW:HUgn0056648 (84%) |species == Mouse; gene == Eif5a2; score == 265; expect == 6.5e-72; MEOW:MGgn0028536 (84%) |species == rat; score == 265; expect == 9.3e-72; MEOW:ref|XP_226974.1| (84%) |species == Mosquito; gene == LOC15032; score == 229; expect == 3.4e-61; MEOW:AGgn0015032 (70%) |species == Mosquito; score == 229; expect == 3.4e-61; MEOW:AGgn0026665 (70%) |species == Fruitfly; gene == eIF-5A; score == 217; expect == 1.1e-57; MEOW:FBgn0034967 (68%) |species == Yeast; gene == HYP2; score == 213; expect == 1.3e-56; MEOW:SGgn0000760 (64%) |species == Yeast; gene == ANB1; score == 210; expect == 2.9e-55; MEOW:SGgn0003808 (65%) |species == Worm; gene == iff-2; score == 191; expect == 1.1e-49; MEOW:CEgn0011744 (61%) |species == Worm; gene == iff-1; score == 183; expect == 2.0e-47; MEOW:CEgn0015536 (57%) |species == Weed; gene == At1g13950; score == 177; expect == 1.5e-45; MEOW:ATgn0001927 (57%) |species == rice; score == 171; expect == 3.8e-43; MEOW:gnl|TIGR|8355.m00123 (55%) |species == Weed; gene == At1g69410; score == 170; expect == 2.5e-43; MEOW:ATgn0001368 (54%) |species == rice; score == 167; expect == 1.8e-42; MEOW:gnl|TIGR|8360.m04916 (54%) |species == Weed; gene == At1g26630; score == 165; expect == 1.0e-41; MEOW:ATgn0001644 (53%) |species == rice; score == 163; expect == 5.2e-41; MEOW:gnl|TIGR|8355.m03854 (53%) |species == rice; score == 152; expect == 1.4e-37; MEOW:gnl|TIGR|8359.m03042 (44%) } # EOR GENR { RETE|ID 1 HUgn0001985 CHR 1 10 DID 1 LocusLink:1985 MAP 1 10q23.3 NAM 1 eukaryotic translation initiation factor 5A pseudogene 1 ORG 1 Homo sapiens SYM 1 EIF5AP1 ID|HUgn0001985 DID|LocusLink:1985 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC068139 |NA:S72024 SYM|EIF5AP1 NAM|eukaryotic translation initiation factor 5A pseudogene 1 CHR|10 MAP|10q23.3 DBL|SNP:1985 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:378209 HG|species == Human; gene == LOC143244; score == 313; expect == 3.0e-86; MEOW:HUgn0143244 (99%) |species == Human; gene == LOC143243; score == 312; expect == 5.2e-86; MEOW:HUgn0143243 (99%) |species == Human; gene == EIF5A; score == 302; expect == 4.1e-83; MEOW:HUgn0001984 (97%) |species == Mouse; gene == Eif5a; score == 302; expect == 2.8e-83; MEOW:MGgn0002437 (97%) |species == rat; score == 302; expect == 4.1e-83; MEOW:ref|XP_213368.1| (97%) |species == Human; gene == EIF5A2; score == 256; expect == 4.3e-69; MEOW:HUgn0056648 (81%) |species == Mouse; gene == Eif5a2; score == 256; expect == 3.0e-69; MEOW:MGgn0028536 (81%) |species == rat; score == 256; expect == 4.3e-69; MEOW:ref|XP_226974.1| (81%) |species == Mosquito; gene == LOC15032; score == 220; expect == 1.6e-58; MEOW:AGgn0015032 (67%) |species == Mosquito; score == 220; expect == 1.6e-58; MEOW:AGgn0026665 (67%) |species == Fruitfly; gene == eIF-5A; score == 208; expect == 5.0e-55; MEOW:FBgn0034967 (66%) |species == Yeast; gene == HYP2; score == 205; expect == 2.1e-54; MEOW:SGgn0000760 (62%) |species == Yeast; gene == ANB1; score == 203; expect == 1.4e-53; MEOW:SGgn0003808 (63%) |species == Worm; gene == iff-2; score == 184; expect == 1.2e-47; MEOW:CEgn0011744 (59%) |species == Worm; gene == iff-1; score == 176; expect == 3.2e-45; MEOW:CEgn0015536 (55%) |species == Weed; gene == At1g13950; score == 171; expect == 1.1e-43; MEOW:ATgn0001927 (56%) |species == Weed; gene == At1g69410; score == 164; expect == 1.8e-41; MEOW:ATgn0001368 (53%) |species == rice; score == 164; expect == 3.6e-41; MEOW:gnl|TIGR|8355.m00123 (54%) |species == rice; score == 161; expect == 1.3e-40; MEOW:gnl|TIGR|8360.m04916 (53%) |species == Weed; gene == At1g26630; score == 159; expect == 7.4e-40; MEOW:ATgn0001644 (52%) |species == rice; score == 157; expect == 3.7e-39; MEOW:gnl|TIGR|8355.m03854 (51%) |species == rice; score == 146; expect == 1.3e-35; MEOW:gnl|TIGR|8359.m03042 (43%) } # EOR GENR { RETE|ID 1 HUgn0001986 CHR 1 17 DID 1 LocusLink:1986 MAP 1 17q25 NAM 1 eukaryotic translation initiation factor 5A pseudogene 2 ORG 1 Homo sapiens SYM 1 EIF5AP2 ID|HUgn0001986 DID|LocusLink:1986 CLA|Pseudogene ORG|Homo sapiens DBA|NA:S72038 SYM|EIF5AP2 NAM|eukaryotic translation initiation factor 5A pseudogene 2 CHR|17 MAP|17q25 DBL|SNP:1986 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:378211 } # EOR GENR { RETE|ID 1 HUgn0001987 CHR 1 19 DID 1 LocusLink:1987 MAP 1 19q13.2 NAM 1 eukaryotic translation initiation factor 5A pseudogene 3 ORG 1 Homo sapiens SYM 1 EIF5AP3 ID|HUgn0001987 DID|LocusLink:1987 CLA|Pseudogene ORG|Homo sapiens DBA|NA:S72026 SYM|EIF5AP3 NAM|eukaryotic translation initiation factor 5A pseudogene 3 CHR|19 MAP|19q13.2 DBL|SNP:1987 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:454046 } # EOR GENR { RETE|ID 1 HUgn0001988 CHR 1 6 DID 1 LocusLink:1988 MAP 1 6p21.2-q13 NAM 1 epilepsy, juvenile myoclonic 1 ORG 1 Homo sapiens SYM 1 EJM1 ID|HUgn0001988 DID|LocusLink:1988 ORG|Homo sapiens SYM|EJM1 NAM|epilepsy, juvenile myoclonic 1 SYN|EJM |JME CHR|6 DBL|OMIM:254770 MAP|6p21.2-q13 PHP|Epilepsy, juvenile myoclonic URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119864 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html } # EOR GENR { RETE|ID 1 HUgn0001989 CHR 1 1 DID 1 LocusLink:1989 MAP 1 1 NAM 1 erythrokeratodermia variabilis ORG 1 Homo sapiens SYM 1 EKV ID|HUgn0001989 DID|LocusLink:1989 ORG|Homo sapiens SYM|EKV NAM|erythrokeratodermia variabilis CHR|1 DBL|OMIM:133200 MAP|1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119106 |http://www.geneclinics.org/query?mim=133200 } # EOR GENR { RETE|ID 1 HUgn0001990 CHR 1 12 DID 1 LocusLink:1990 MAP 1 12q13 NAM 1 elastase 1, pancreatic ORG 1 Homo sapiens SYM 1 ELA1 ID|HUgn0001990 DID|LocusLink:1990 ORG|Homo sapiens RSQ|REFSEQ:NM_001971 RPA|REFPROT:NP_001962 DBA|XM:NM_001971 |NA:X05293 |NA:X62258 |NA:AF120493 |NA:none PAC|XP:NP_001962 SYM|ELA1 NAM|elastase 1, pancreatic FNC|elastase 1, pancreatic |proteolysis and peptidolysis ; GO:0006508 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348395 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1990[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119866 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001971 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001971 DBL|UNIGENE:Hs.348395 |OMIM:130120 |SNP:1990 ENZ|EC:3.4.21.36 |trypsin activity ; GO:0004295 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 |pancreatic elastase I activity ; GO:0008125 MAP|12q13 HG|species == rat; score == 481; expect == 1e-136; MEOW:ref|NP_036684.1| (89%) |species == Mouse; gene == Ela1; score == 460; expect == 2e-130; MEOW:MGgn0003790 (83%) |species == Human; gene == ELA2A; score == 294; expect == 3.7e-80; MEOW:HUgn0063036 (57%) |species == Human; gene == ELA2B; score == 283; expect == 6.5e-77; MEOW:HUgn0051032 (55%) |species == Human; gene == ELA3B; score == 278; expect == 2.1e-75; MEOW:HUgn0023436 (54%) |species == Human; gene == ELA3A; score == 276; expect == 7.9e-75; MEOW:HUgn0010136 (55%) |species == Human; gene == CTRC; score == 253; expect == 9.4e-68; MEOW:HUgn0011330 (51%) |species == chimp; score == 146; expect == 3.3e-37; MEOW:sp|Q95ND7|Q95ND7 (37%) |species == Mosquito; gene == LOC17112; score == 143; expect == 6.0e-35; MEOW:AGgn0017112 (35%) |species == chimp; score == 142; expect == 4.7e-36; MEOW:sp|Q95ND6|Q95ND6 (36%) |species == Mosquito; score == 131; expect == 3.1e-31; MEOW:AGgn0012201 (35%) |species == Fruitfly; gene == CG13430; score == 131; expect == 2.4e-31; MEOW:FBgn0034518 (34%) |species == Fruitfly; gene == CG18065; score == 131; expect == 2.4e-31; MEOW:FBgn0034519 (34%) |species == Fruitfly; gene == CG10663; score == 131; expect == 2.4e-31; MEOW:FBgn0036287 (32%) |species == Mosquito; gene == LOC12216; score == 129; expect == 8.9e-31; MEOW:AGgn0012216 (36%) |species == Mosquito; score == 129; expect == 8.9e-31; MEOW:AGgn0018316 (34%) |species == Fruitfly; gene == EG:80H7.1; score == 129; expect == 9.2e-31; MEOW:FBgn0025385 (35%) |species == Fruitfly; gene == &lgr;Try; score == 129; expect == 9.2e-31; MEOW:FBgn0043470 (31%) |species == Fruitfly; gene == CG32808; score == 129; expect == 9.2e-31; MEOW:FBgn0052808 (35%) |species == Zfish; gene == f7; score == 128; expect == 1.5e-31; MEOW:ZFgn0002317 (32%) } # EOR GENR { RETE|ID 1 HUgn0001991 CHR 1 19 DID 1 LocusLink:1991 MAP 1 19p13.3 NAM 1 elastase 2, neutrophil ORG 1 Homo sapiens SYM 1 ELA2 ID|HUgn0001991 DID|LocusLink:1991 ORG|Homo sapiens RSQ|REFSEQ:NM_001972 RPA|REFPROT:NP_001963 DBA|XM:NM_001972 |NA:M20199 |NA:M20200 |NA:M20201 |NA:M20202 |NA:M20203 |NA:Y00477 |NA:D00187 |NA:J03545 |NA:M27783 |NA:M34379 |NA:X05875 |NA:none PAC|XP:NP_001963 SYM|ELA2 NAM|elastase 2, neutrophil SYN|NE FNC|elastase 2, neutrophil |proteolysis and peptidolysis ; GO:0006508 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99863 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1991[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118792 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001972 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001972 |http://www.geneclinics.org/query?mim=130130 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27735 DBL|UNIGENE:Hs.99863 |OMIM:130130 |SNP:1991 ENZ|EC:3.4.21.37 |trypsin activity ; GO:0004295 |macrophage elastase activity ; GO:0004234 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|19p13.3 PHP|Hematopoiesis, cyclic |Neutropenia, congenital HG|species == rat; score == 363; expect == 5e-101; MEOW:ref|XP_234883.1| (73%) |species == Mouse; gene == Prtn3; score == 256; expect == 6.3e-69; MEOW:MGgn0009466 (54%) |species == Human; gene == PRTN3; score == 253; expect == 5.4e-68; MEOW:HUgn0005657 (54%) } # EOR GENR { RETE|ID 1 HUgn0001992 CHR 1 6 DID 1 LocusLink:1992 MAP 1 6p25 NAM 1 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1 ORG 1 Homo sapiens SYM 1 SERPINB1 ID|HUgn0001992 DID|LocusLink:1992 ORG|Homo sapiens RSQ|REFSEQ:NM_030666 RPA|REFPROT:NP_109591 DBA|XM:NM_030666 |NA:AF053630 |NA:BC009015 |NA:BT006928 |NA:M93056 |NA:none PAC|XP:NP_109591 SYM|SERPINB1 NAM|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1 SYN|EI |LEI |PI2 |MNEI |M/NEI |ELANH2 FNC|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1 CHR|6 PRD|anti-elastase |protease inhibitor 2 (anti-elastase), monocyte/neutrophil |protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381167 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1992[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132914 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_030666 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_030666 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=381167 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA35046 DBL|UNIGENE:Hs.381167 |OMIM:130135 |SNP:1992 MAP|6p25 ENZ|serine protease inhibitor activity ; GO:0004867 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 600; expect == 5e-172; MEOW:ref|XP_214459.2| (81%) |species == Mouse; gene == Serpinb1b; score == 553; expect == 3e-158; MEOW:MGgn0044848 (75%) |species == rat; score == 531; expect == 2e-151; MEOW:ref|XP_225268.1| (71%) |species == Mouse; gene == Serpinb1a; score == 523; expect == 4e-149; MEOW:MGgn0016406 (72%) |species == Human; gene == SERPINB9; score == 379; expect == 2e-105; MEOW:HUgn0005272 (51%) |species == Human; gene == SERPINB8; score == 347; expect == 6.2e-96; MEOW:HUgn0005271 (51%) |species == Human; gene == SERPINB6; score == 344; expect == 4.0e-95; MEOW:HUgn0005269 (51%) |species == Human; gene == SERPINB10; score == 343; expect == 9.6e-95; MEOW:HUgn0005273 (44%) |species == Human; gene == SERPINB2; score == 340; expect == 6.6e-94; MEOW:HUgn0005055 (45%) |species == Human; gene == SERPINB3; score == 331; expect == 3.5e-91; MEOW:HUgn0006317 (46%) |species == Human; gene == SERPINB4; score == 331; expect == 4.6e-91; MEOW:HUgn0006318 (46%) |species == Human; gene == SERPINB13; score == 318; expect == 2.4e-87; MEOW:HUgn0005275 (45%) |species == Human; gene == SERPINB5; score == 314; expect == 4.4e-86; MEOW:HUgn0005268 (39%) |species == Fruitfly; gene == Spn6; score == 211; expect == 3.1e-55; MEOW:FBgn0028983 (36%) |species == Mosquito; gene == LOC23448; score == 199; expect == 1.5e-51; MEOW:AGgn0023448 (34%) |species == Mosquito; gene == LOC23182; score == 194; expect == 8.9e-50; MEOW:AGgn0023182 (34%) |species == Mosquito; gene == LOC22846; score == 191; expect == 4.2e-49; MEOW:AGgn0022846 (34%) |species == Fruitfly; gene == Spn1; score == 191; expect == 7.3e-49; MEOW:FBgn0028988 (35%) |species == Fruitfly; gene == CG6717; score == 190; expect == 1.0e-48; MEOW:FBgn0031924 (33%) |species == Mosquito; score == 184; expect == 3.0e-47; MEOW:AGgn0015833 (33%) |species == Fruitfly; gene == Spn3; score == 181; expect == 6.2e-46; MEOW:FBgn0028986 (34%) |species == Zfish; gene == hsp47; score == 181; expect == 8.4e-46; MEOW:ZFgn0000260 (30%) |species == Fruitfly; gene == Spn4; score == 174; expect == 5.5e-44; MEOW:FBgn0028985 (35%) |species == Fruitfly; gene == CG9460; score == 174; expect == 6.0e-44; MEOW:FBgn0033115 (33%) |species == Fruitfly; gene == Spn2; score == 171; expect == 6.6e-43; MEOW:FBgn0028987 (33%) |species == Fruitfly; gene == Spn5; score == 170; expect == 1.2e-42; MEOW:FBgn0028984 (30%) |species == Worm; gene == srp-6; score == 160; expect == 1.1e-39; MEOW:CEgn0003919 (29%) |species == Weed; gene == At1g47710; score == 159; expect == 3.3e-39; MEOW:ATgn0005921 (29%) |species == Worm; gene == srp-7; score == 151; expect == 6.3e-37; MEOW:CEgn0008892 (29%) |species == Worm; gene == srp-3; score == 146; expect == 1.9e-35; MEOW:CEgn0027694 (32%) |species == rice; score == 143; expect == 3.9e-34; MEOW:gnl|TIGR|8358.m01139 (32%) |species == rice; score == 142; expect == 5.1e-34; MEOW:gnl|TIGR|8358.m01272 (30%) |species == rice; score == 142; expect == 2.0e-34; MEOW:gnl|TIGR|8360.m03709 (40%) |species == Worm; gene == srp-1; score == 140; expect == 1.4e-33; MEOW:CEgn0004100 (28%) |species == Weed; gene == At2g26390; score == 137; expect == 1.3e-32; MEOW:ATgn0009752 (28%) |species == rice; score == 137; expect == 2.8e-32; MEOW:gnl|TIGR|8358.m01271 (30%) |species == Weed; gene == At3g45220; score == 135; expect == 5.1e-32; MEOW:ATgn0016884 (28%) |species == Weed; gene == At2g25240; score == 134; expect == 6.5e-32; MEOW:ATgn0009085 (28%) } # EOR GENR { RETE|ID 1 HUgn0001993 CHR 1 9 DID 1 LocusLink:1993 MAP 1 9p21 NAM 1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) ORG 1 Homo sapiens SYM 1 ELAVL2 ID|HUgn0001993 DID|LocusLink:1993 ORG|Homo sapiens RSQ|REFSEQ:NM_004432 RPA|REFPROT:NP_004423 DBA|XM:NM_004432 |NA:BC030692 |NA:BC035004 |NA:BC042393 |NA:U12431 |NA:U29943 |NA:none PAC|XP:NP_004423 SYM|ELAVL2 NAM|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) SYN|HUB |HELN1 |HEL-N1 FNC|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) CHR|9 PRD|HuB |Embryonic lethal, abnormal vision, Drosophila, homolog of, like-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166109 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1993[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4642831 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004432 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004432 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=166109 DBL|UNIGENE:Hs.166109 |OMIM:601673 |SNP:1993 MAP|9p21 HG|species == rat; score == 721; expect == 0.0; MEOW:ref|XP_346744.1| (99%) |species == Mouse; gene == Elavl2; score == 716; expect == 0.0; MEOW:MGgn0005728 (99%) |species == Human; gene == ELAVL4; score == 643; expect == 0.0; MEOW:HUgn0001996 (86%) |species == Zfish; gene == elavl4; score == 634; expect == 0.0; MEOW:ZFgn0000454 (87%) |species == Mouse; gene == Elavl4; score == 617; expect == 2e-177; MEOW:MGgn0005731 (86%) |species == Human; gene == ELAVL3; score == 576; expect == 8e-165; MEOW:HUgn0001995 (80%) |species == Mosquito; score == 426; expect == 4e-120; MEOW:AGgn0029179 (65%) |species == Mosquito; gene == LOC18039; score == 419; expect == 1e-117; MEOW:AGgn0018039 (61%) |species == Mosquito; score == 415; expect == 1e-116; MEOW:AGgn0005999 (61%) |species == Fruitfly; gene == fne; score == 401; expect == 2e-112; MEOW:FBgn0040222 (61%) |species == Fruitfly; gene == elav; score == 352; expect == 1.1e-97; MEOW:FBgn0000570 (53%) } # EOR GENR { RETE|ID 1 HUgn0001994 CHR 1 19 DID 1 LocusLink:1994 MAP 1 19p13.2 NAM 1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) ORG 1 Homo sapiens SYM 1 ELAVL1 ID|HUgn0001994 DID|LocusLink:1994 ORG|Homo sapiens RSQ|REFSEQ:NM_001419 RPA|REFPROT:NP_001410 DBA|XM:NM_001419 |NA:AI375368 |NA:AK022334 |NA:AK096659 |NA:AL713686 |NA:AW139417 |NA:BC003376 |NA:BM664469 |NA:BM696191 |NA:BT009793 |NA:BU542524 |NA:U38175 |NA:W37464 |NA:none PAC|XP:NP_001410 SYM|ELAVL1 NAM|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) SYN|HUR |Hua |MelG |ELAV1 FNC|ELAV-like 1 |RNA catabolism ; GO:0006401 |development ; GO:0007275 REAB|The protein encoded by this gene is a member of the ELAVL protein family. This encoded |protein contains 3 RNA-binding domains and binds cis-acting AU-rich elements. It |destabilizes mRNAs and thereby regulates gene expression. CHR|19 PRD|Hu antigen R |embryonic lethal, abnormal vision, drosophila, homolog-like 1 DBL|OMIM:603466 |SNP:1994 MAP|19p13.2 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1994[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3789393 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001419 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001419 ENZ|mRNA 3' UTR binding ; GO:0003730 HG|species == Mouse; gene == Elavl1; score == 647; expect == 0.0; MEOW:MGgn0005727 (98%) |species == rat; score == 647; expect == 0.0; MEOW:ref|XP_344064.1| (98%) |species == Zfish; gene == elavl1; score == 563; expect == 3e-162; MEOW:ZFgn0000453 (84%) |species == Zfish; gene == hug; score == 537; expect == 2e-154; MEOW:ZFgn0000716 (81%) |species == Human; gene == ELAVL2; score == 487; expect == 3e-138; MEOW:HUgn0001993 (73%) |species == Human; gene == ELAVL4; score == 479; expect == 7e-136; MEOW:HUgn0001996 (68%) |species == Zfish; gene == elavl4; score == 478; expect == 1e-136; MEOW:ZFgn0000454 (71%) |species == Human; gene == ELAVL3; score == 463; expect == 5e-131; MEOW:HUgn0001995 (68%) |species == Mosquito; score == 395; expect == 2e-110; MEOW:AGgn0005999 (59%) |species == Mosquito; score == 384; expect == 2e-107; MEOW:AGgn0029179 (63%) |species == Mosquito; gene == LOC18039; score == 377; expect == 3e-105; MEOW:AGgn0018039 (57%) |species == Fruitfly; gene == fne; score == 377; expect == 3e-105; MEOW:FBgn0040222 (58%) |species == Fruitfly; gene == elav; score == 329; expect == 6.5e-91; MEOW:FBgn0000570 (52%) |species == Mosquito; score == 325; expect == 1.5e-89; MEOW:AGgn0020835 (57%) } # EOR GENR { RETE|ID 1 HUgn0001995 CHR 1 19 DID 1 LocusLink:1995 MAP 1 19p13.2 NAM 1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) ORG 1 Homo sapiens SYM 1 ELAVL3 ID|HUgn0001995 DID|LocusLink:1995 ORG|Homo sapiens RSQ|REFSEQ:NM_001420 RPA|REFPROT:NP_001411 DBA|XM:NM_001420 |NA:AY034002 |NA:AY036909 |NA:BC014144 |NA:D26158 |NA:L26405 |NA:none PAC|XP:NP_001411 SYM|ELAVL3 NAM|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) SYN|HUC |PLE21 FNC|Hu antigen C |neurogenesis ; GO:0007399 |cell differentiation ; GO:0030154 REAB|A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding |protein which contains three RNP-type RNA recognition motifs. The observation that |ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized |by the anti-Hu serum antibody present in sera from patients with paraneoplastic |encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1701 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1995[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6282078 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001420 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001420 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1701 DBL|UNIGENE:Hs.1701 |OMIM:603458 |SNP:1995 MAP|19p13.2 ENZ|mRNA 3' UTR binding ; GO:0003730 |RNA binding ; GO:0003723 HG|species == Mouse; gene == Elavl3; score == 606; expect == 5e-174; MEOW:MGgn0005730 (92%) |species == rat; score == 606; expect == 7e-174; MEOW:ref|NP_758827.1| (92%) |species == Zfish; gene == elavl4; score == 578; expect == 2e-165; MEOW:ZFgn0000454 (80%) |species == rat; score == 578; expect == 2e-165; MEOW:ref|XP_346744.1| (80%) |species == Human; gene == ELAVL2; score == 576; expect == 8e-165; MEOW:HUgn0001993 (80%) |species == Mouse; gene == Elavl2; score == 573; expect == 4e-164; MEOW:MGgn0005728 (80%) |species == Human; gene == ELAVL4; score == 548; expect == 2e-156; MEOW:HUgn0001996 (83%) |species == Mouse; gene == Elavl4; score == 523; expect == 5e-149; MEOW:MGgn0005731 (83%) |species == Human; gene == ELAVL1; score == 463; expect == 5e-131; MEOW:HUgn0001994 (68%) |species == Mosquito; score == 405; expect == 2e-113; MEOW:AGgn0005999 (61%) |species == Mosquito; score == 399; expect == 9e-112; MEOW:AGgn0029179 (62%) |species == Mosquito; gene == LOC18039; score == 389; expect == 2e-108; MEOW:AGgn0018039 (59%) |species == Fruitfly; gene == fne; score == 374; expect == 4e-104; MEOW:FBgn0040222 (57%) |species == Mosquito; score == 331; expect == 3.6e-91; MEOW:AGgn0020835 (54%) |species == Fruitfly; gene == elav; score == 326; expect == 8.1e-90; MEOW:FBgn0000570 (52%) } # EOR GENR { RETE|ID 1 HUgn0001996 CHR 1 1 DID 1 LocusLink:1996 MAP 1 1p34 NAM 1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) ORG 1 Homo sapiens SYM 1 ELAVL4 ID|HUgn0001996 DID|LocusLink:1996 ORG|Homo sapiens RSQ|REFSEQ:NM_021952 RPA|REFPROT:NP_068771 DBA|XM:NM_021952 |NA:AY033995 |NA:AY033996 |NA:AY033997 |NA:AY033998 |NA:BC036071 |NA:M62843 |NA:S73887 |NA:none PAC|XP:NP_068771 SYM|ELAVL4 NAM|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) SYN|HUD |PNEM FNC|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) CHR|1 PRD|Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75236 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1996[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141875 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021952 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021952 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75236 DBL|UNIGENE:Hs.75236 |OMIM:168360 |SNP:1996 MAP|1p34 PHP|Neuropathy, paraneoplastic sensory HG|species == Zfish; gene == elavl4; score == 688; expect == 0.0; MEOW:ZFgn0000454 (91%) |species == Mouse; gene == Elavl2; score == 645; expect == 0.0; MEOW:MGgn0005728 (86%) |species == rat; score == 645; expect == 0.0; MEOW:ref|XP_346744.1| (86%) |species == Human; gene == ELAVL2; score == 643; expect == 0.0; MEOW:HUgn0001993 (86%) |species == Mouse; gene == Elavl4; score == 613; expect == 3e-176; MEOW:MGgn0005731 (92%) |species == Mouse; gene == Elavl3; score == 549; expect == 8e-157; MEOW:MGgn0005730 (82%) |species == rat; score == 549; expect == 8e-157; MEOW:ref|NP_758827.1| (82%) |species == Human; gene == ELAVL3; score == 548; expect == 2e-156; MEOW:HUgn0001995 (83%) |species == Mosquito; score == 417; expect == 4e-117; MEOW:AGgn0029179 (63%) |species == Mosquito; score == 415; expect == 2e-116; MEOW:AGgn0005999 (61%) |species == Mosquito; gene == LOC18039; score == 409; expect == 2e-114; MEOW:AGgn0018039 (58%) |species == Fruitfly; gene == fne; score == 391; expect == 3e-109; MEOW:FBgn0040222 (58%) |species == Fruitfly; gene == elav; score == 339; expect == 1.3e-93; MEOW:FBgn0000570 (51%) } # EOR GENR { RETE|ID 1 HUgn0001997 CHR 1 13 DID 1 LocusLink:1997 MAP 1 13q13 NAM 1 E74-like factor 1 (ets domain transcription factor) ORG 1 Homo sapiens SYM 1 ELF1 ID|HUgn0001997 DID|LocusLink:1997 ORG|Homo sapiens RSQ|REFSEQ:NM_172373 RPA|REFPROT:NP_758961 DBA|XM:NM_172373 |NA:AK095466 |NA:BC010575 |NA:BC030507 |NA:BX640798 |NA:M82882 |NA:none PAC|XP:NP_758961 SYM|ELF1 NAM|E74-like factor 1 (ets domain transcription factor) FNC|E74-like factor 1 (ets domain transcription factor) CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=124030 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1997[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131648 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172373 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172373 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=124030 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27744 DBL|UNIGENE:Hs.124030 |OMIM:189973 |SNP:1997 MAP|13q13 HG|species == Mouse; gene == Elf1; score == 927; expect == 0.0; MEOW:MGgn0003795 (88%) |species == rat; score == 922; expect == 0.0; MEOW:ref|NP_445972.1| (86%) |species == Zfish; gene == ef1; score == 335; expect == 2.9e-92; MEOW:ZFgn0000102 (57%) |species == Human; gene == ELF4; score == 307; expect == 1.9e-83; MEOW:HUgn0002000 (41%) |species == Human; gene == ELF2; score == 255; expect == 6.5e-68; MEOW:HUgn0001998 (36%) |species == Mosquito; score == 174; expect == 5.7e-44; MEOW:AGgn0028605 (71%) |species == Fruitfly; gene == Eip74EF; score == 174; expect == 7.7e-44; MEOW:FBgn0000567 (72%) |species == Mosquito; score == 154; expect == 7.9e-38; MEOW:AGgn0025963 (74%) |species == Worm; gene == C24A1.2; score == 152; expect == 2.8e-37; MEOW:CEgn0005219 (68%) } # EOR GENR { RETE|ID 1 HUgn0001998 CHR 1 4 DID 1 LocusLink:1998 MAP 1 4q28 NAM 1 E74-like factor 2 (ets domain transcription factor) ORG 1 Homo sapiens SYM 1 ELF2 ID|HUgn0001998 DID|LocusLink:1998 ORG|Homo sapiens RSQ|REFSEQ:NM_006874 RPA|REFPROT:NP_006865 DBA|XM:NM_006874 |NA:AF256222 |NA:AF256223 |NA:BC034951 |NA:U43188 |NA:U43189 PAC|XP:NP_006865 SYM|ELF2 NAM|E74-like factor 2 (ets domain transcription factor) SYN|EU32 |NERF |NERF-2 |NERF-1A |NERF-1B FNC|E74-like factor 2 (ets domain transcription factor) CHR|4 PRD|new Ets-related factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82143 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1998[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230387 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006874 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006874 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82143 DBL|UNIGENE:Hs.82143 |SNP:1998 MAP|4q28 HG|species == Mouse; gene == Elf2; score == 826; expect == 0.0; MEOW:MGgn0020962 (93%) |species == rat; score == 810; expect == 0.0; MEOW:ref|XP_342244.1| (88%) |species == Human; gene == LOC151273; score == 286; expect == 2.6e-77; MEOW:HUgn0151273 (96%) |species == Human; gene == ELF1; score == 255; expect == 6.5e-68; MEOW:HUgn0001997 (36%) |species == Zfish; gene == ef1; score == 238; expect == 3.7e-63; MEOW:ZFgn0000102 (60%) |species == Mosquito; score == 186; expect == 1.8e-47; MEOW:AGgn0028605 (80%) |species == Fruitfly; gene == Eip74EF; score == 182; expect == 2.4e-46; MEOW:FBgn0000567 (77%) |species == Mosquito; score == 162; expect == 1.1e-40; MEOW:AGgn0025963 (81%) |species == Worm; gene == C24A1.2; score == 152; expect == 2.4e-37; MEOW:CEgn0005219 (52%) } # EOR GENR { RETE|ID 1 HUgn0001999 CHR 1 1 DID 1 LocusLink:1999 MAP 1 1q32.2 NAM 1 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ORG 1 Homo sapiens SYM 1 ELF3 ID|HUgn0001999 DID|LocusLink:1999 ORG|Homo sapiens RSQ|REFSEQ:NM_004433 RPA|REFPROT:NP_004424 DBA|XM:NM_004433 |NA:AF016295 |NA:AF017307 |NA:AF517841 |NA:BC003569 |NA:BX537368 |NA:U66894 |NA:U73843 |NA:U73844 |NA:U97156 PAC|XP:NP_004424 SYM|ELF3 NAM|E74-like factor 3 (ets domain transcription factor, epithelial-specific ) SYN|ERT |ESX |EPR-1 |ESE-1 FNC|E74-like factor 3 (ets domain transcription factor, epithelial-specific ) |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 |transcription from Pol II promoter ; GO:0006366 CHR|1 PRD|E74-like factor 3 (ets domain transcription factor) |ets domain transcription factor, serine box (epithelial-specific) |E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=67928 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1999[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230388 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004433 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004433 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=67928 DBL|UNIGENE:Hs.67928 |OMIM:602191 |SNP:1999 MAP|1q32.2 PHP|ETS domain transcriptional activator; activates expression of epithelial cell specific genes ENZ|transcription co-activator activity ; GO:0003713 |transcription activating factor ; GO:0003710 |transcription factor activity ; GO:0003700 HG|species == Mouse; gene == Elf3; score == 600; expect == 3e-172; MEOW:MGgn0003796 (87%) |species == rat; score == 570; expect == 6e-163; MEOW:ref|XP_222659.2| (87%) |species == Human; gene == EHF; score == 179; expect == 2.1e-45; MEOW:HUgn0026298 (81%) } # EOR GENR { RETE|ID 1 HUgn0002000 CHR 1 X DID 1 LocusLink:2000 MAP 1 Xq26 NAM 1 E74-like factor 4 (ets domain transcription factor) ORG 1 Homo sapiens SYM 1 ELF4 ID|HUgn0002000 DID|LocusLink:2000 ORG|Homo sapiens RSQ|REFSEQ:NM_001421 RPA|REFPROT:NP_001412 DBA|XM:NM_001421 |NA:AF000670 |NA:BC017194 |NA:U32645 PAC|XP:NP_001412 SYM|ELF4 NAM|E74-like factor 4 (ets domain transcription factor) SYN|MEF |ELFR FNC|E74-like factor 4 (ets domain transcription factor) |transcription from Pol II promoter ; GO:0006366 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=151139 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2000[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4244632 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001421 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001421 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=151139 DBL|UNIGENE:Hs.151139 |SNP:2000 MAP|Xq26 PHP|Member of the elf-1/E74 family of ETS transcription factors; activates transcription from the promoters of GM-CSF and IL-3 ENZ|transcription co-activator activity ; GO:0003713 |transcription activating factor ; GO:0003710 HG|species == Mouse; gene == Elf4; score == 929; expect == 0.0; MEOW:MGgn0015040 (78%) |species == rat; score == 914; expect == 0.0; MEOW:ref|XP_229125.1| (76%) |species == Zfish; gene == ef1; score == 331; expect == 5.5e-91; MEOW:ZFgn0000102 (57%) |species == Human; gene == ELF1; score == 307; expect == 1.9e-83; MEOW:HUgn0001997 (41%) |species == Mosquito; score == 174; expect == 6.1e-44; MEOW:AGgn0028605 (75%) |species == Fruitfly; gene == Eip74EF; score == 171; expect == 7.1e-43; MEOW:FBgn0000567 (72%) |species == Mosquito; score == 154; expect == 8.5e-38; MEOW:AGgn0025963 (76%) |species == Worm; gene == C24A1.2; score == 147; expect == 1.3e-35; MEOW:CEgn0005219 (71%) } # EOR GENR { RETE|ID 1 HUgn0002001 CHR 1 11 DID 1 LocusLink:2001 MAP 1 11p13-p12 NAM 1 E74-like factor 5 (ets domain transcription factor) ORG 1 Homo sapiens SYM 1 ELF5 ID|HUgn0002001 DID|LocusLink:2001 ORG|Homo sapiens RSQ|REFSEQ:NM_001422 |REFSEQ:NM_198381 RPA|REFPROT:NP_001413 |REFPROT:NP_938195 DBA|XM:NM_001422 |NA:AF049703 |NA:AF115402 |NA:AF115403 |NA:AK074633 |NA:AK075197 |NA:BC029743 |NA:BG260616 PAC|XP:NP_001413 SYM|ELF5 NAM|E74-like factor 5 (ets domain transcription factor) SYN|ESE2 FNC|E74-like factor 5 ESE-2a |E74-like factor 5 ESE-2b |cell proliferation ; GO:0008283 |transcription from Pol II promoter ; GO:0006366 REAB|The protein encoded by this gene is a member of an epithelium-specific subclass of |the Ets transcritpion factor family. In addition to its role in regulating the later |stages of terminal differentiation of keratinocytes, it appears to regulate a number |of epithelium-specific genes found in tissues containing glandular epithelium such |as salivary gland and prostate. It has very low affinity to DNA due to its negative |regulatory domain at the amino terminus. Two alternatively spliced transcript variants |encoding different isoforms have been described for this gene. CHR|11 PRD|epithelium-specific Ets transcription factor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=11713 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2001[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836230 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_198381 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_198381 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=11713 DBL|UNIGENE:Hs.11713 |OMIM:605169 |SNP:2001 MAP|11p13-p12 ENZ|transcription activating factor ; GO:0003710 HG|species == Mouse; gene == Elf5; score == 516; expect == 4e-147; MEOW:MGgn0003797 (94%) |species == rat; score == 515; expect == 1e-146; MEOW:ref|XP_345410.1| (93%) |species == Human; gene == EHF; score == 211; expect == 2.4e-55; MEOW:HUgn0026298 (40%) } # EOR GENR { RETE|ID 1 HUgn0002002 CHR 1 X DID 1 LocusLink:2002 MAP 1 Xp11.2 NAM 1 ELK1, member of ETS oncogene family ORG 1 Homo sapiens SYM 1 ELK1 ID|HUgn0002002 DID|LocusLink:2002 ORG|Homo sapiens RSQ|REFSEQ:NM_005229 RPA|REFPROT:NP_005220 DBA|XM:NM_005229 |NA:AB016194 |NA:AF080615 |NA:AF080616 |NA:AB016193 |NA:AF000672 |NA:AK093966 |NA:BC048296 |NA:BC056150 |NA:M25269 |NA:none PAC|XP:NP_005220 SYM|ELK1 NAM|ELK1, member of ETS oncogene family FNC|ELK1 protein |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene is a member of the Ets family of transcription factors and of the ternary |complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex |by binding to the the serum response factor and the serum reponse element in the |promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear |target for the ras-raf-MAPK signaling cascade. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=181128 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2002[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119867 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005229 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005229 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=181128 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 DBL|UNIGENE:Hs.181128 |OMIM:311040 |SNP:2002 MAP|Xp11.2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Elk1; score == 572; expect == 1e-163; MEOW:MGgn0003798 (85%) |species == rat; score == 572; expect == 1e-163; MEOW:ref|XP_234523.2| (86%) |species == Human; gene == ELK4; score == 195; expect == 4.7e-50; MEOW:HUgn0002005 (33%) |species == Human; gene == ELK3; score == 167; expect == 1.0e-41; MEOW:HUgn0002004 (55%) } # EOR GENR { RETE|ID 1 HUgn0002003 CHR 1 14 DID 1 LocusLink:2003 MAP 1 14q32.3 NAM 1 ELK2, member of ETS oncogene family, pseudogene 1 ORG 1 Homo sapiens SYM 1 ELK2P1 ID|HUgn0002003 DID|LocusLink:2003 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF080617 SYM|ELK2P1 NAM|ELK2, member of ETS oncogene family, pseudogene 1 SYN|ELK2 |ELK2.1 CHR|14 MAP|14q32.3 DBL|SNP:2003 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119868 } # EOR GENR { RETE|ID 1 HUgn0002004 CHR 1 12 DID 1 LocusLink:2004 MAP 1 12q23 NAM 1 ELK3, ETS-domain protein (SRF accessory protein 2) ORG 1 Homo sapiens SYM 1 ELK3 ID|HUgn0002004 DID|LocusLink:2004 ORG|Homo sapiens RSQ|REFSEQ:NM_005230 RPA|REFPROT:NP_005221 DBA|XM:NM_005230 |NA:BC017371 |NA:Z36715 |NA:none PAC|XP:NP_005221 SYM|ELK3 NAM|ELK3, ETS-domain protein (SRF accessory protein 2) SYN|ERP |NET |SAP2 FNC|ELK3 protein |signal transduction ; GO:0007165 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|The protein encoded by this gene is a member of the ETS-domain transcription factor |family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily |regulate transcription when recruited by serum response factor to bind to serum |response elements. This protein is activated by signal-induced phosphorylation; |studies in rodents suggest that it is a transcriptional inhibitor in the absence |of Ras, but activates transcription when Ras is present. CHR|12 PRD|ETS-domain protein |SRF accessory protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=288555 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2004[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433758 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005230 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005230 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=288555 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27752 DBL|UNIGENE:Hs.288555 |OMIM:600247 |SNP:2004 MAP|12q23 ENZ|transcription cofactor activity ; GO:0003712 |RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Elk3; score == 542; expect == 1e-154; MEOW:MGgn0003799 (89%) |species == rat; score == 511; expect == 4e-145; MEOW:ref|XP_343199.1| (91%) |species == Human; gene == ELK4; score == 300; expect == 7.9e-82; MEOW:HUgn0002005 (48%) } # EOR GENR { RETE|ID 1 HUgn0002005 CHR 1 1 DID 1 LocusLink:2005 MAP 1 1q32 NAM 1 ELK4, ETS-domain protein (SRF accessory protein 1) ORG 1 Homo sapiens SYM 1 ELK4 ID|HUgn0002005 DID|LocusLink:2005 ORG|Homo sapiens RSQ|REFSEQ:NM_001973 |REFSEQ:NM_021795 RPA|REFPROT:NP_001964 |REFPROT:NP_068567 DBA|XM:NM_001973 |XM:NM_021795 |NA:BC040145 |NA:BC043653 |NA:M85164 |NA:M85165 |NA:none PAC|XP:NP_001964 |XP:NP_068567 SYM|ELK4 NAM|ELK4, ETS-domain protein (SRF accessory protein 1) SYN|SAP1 FNC|ELK4 protein isoform a |ELK4 protein isoform b |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|This gene is a member of the Ets family of transcription factors and of the ternary |complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex |by binding to the the serum response factor and the serum reponse element in the |promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated |by the kinases, MAPK1 and MAPK8. Several transcript variants have been described |for this gene. CHR|1 PRD|ETS-domain protein |SRF accessory protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129969 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2005[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433755 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021795 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021795 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=129969 DBL|UNIGENE:Hs.129969 |OMIM:600246 |SNP:2005 MAP|1q32 ENZ|transcription cofactor activity ; GO:0003712 |protein binding ; GO:0005515 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 641; expect == 0.0; MEOW:ref|XP_222630.1| (85%) |species == Mouse; gene == Elk4; score == 634; expect == 0.0; MEOW:MGgn0003800 (84%) |species == Human; gene == ELK3; score == 300; expect == 7.9e-82; MEOW:HUgn0002004 (48%) } # EOR GENR { RETE|ID 1 HUgn0002006 CHR 1 7 DID 1 LocusLink:2006 MAP 1 7q11.23 NAM 1 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) ORG 1 Homo sapiens SYM 1 ELN ID|HUgn0002006 DID|LocusLink:2006 ORG|Homo sapiens RSQ|REFSEQ:NM_000501 RPA|REFPROT:NP_000492 DBA|XM:NM_000501 |XM:NM_000501 |NA:M16983 |NA:M17265 |NA:M17266 |NA:M17267 |NA:M17268 |NA:M17269 |NA:M17270 |NA:M17271 |NA:M17272 |NA:M17273 |NA:M17274 |NA:M17275 |NA:M17276 |NA:M17277 |NA:M17278 |NA:M17279 |NA:M17280 |NA:M17281 |NA:M17282 |NA:U77846 |NA:U93037 |NA:AK075554 |NA:AK092232 |NA:AK094138 |NA:AK122731 |NA:BX537939 |NA:BX538199 |NA:M24782 |NA:M36860 |NA:X52896 PAC|XP:NP_000492 |XP:NP_000492 SYM|ELN NAM|elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) SYN|WS |WBS |SVAS FNC|elastin |respiratory gaseous exchange ; GO:0007585 |circulation ; GO:0008015 |histogenesis and organogenesis ; GO:0007397 |cell shape and cell size control ; GO:0007148 |cell proliferation ; GO:0008283 CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=252418 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2006[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119107 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000501 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000501 |http://www.geneclinics.org/query?mim=130160 |http://www.ncbi.nlm.nih.gov/disease/Williams.html |http://www.williams-syndrome.org/ DBL|UNIGENE:Hs.252418 |OMIM:130160 |SNP:2006 |UWCM:119107.html MAP|7q11.23 PHP|Cutis laxa, AD |Supravalvar aortic stenosis |Williams-Beuren syndrome |Elastin; component of the extracellular matrix of arteries; similar to murine Eln ENZ|extracellular matrix structural constituent ; GO:0005201 CEL|extracellular matrix ; GO:0005578 |extracellular space ; GO:0005615 } # EOR GENR { RETE|ID 1 HUgn0002007 CHR 1 3 DID 1 LocusLink:2007 MAP 1 3q21-q22 NAM 1 elastin-like 1 ORG 1 Homo sapiens SYM 1 ELNL1 ID|HUgn0002007 DID|LocusLink:2007 ORG|Homo sapiens SYM|ELNL1 NAM|elastin-like 1 CHR|3 MAP|3q21-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:369075 } # EOR GENR { RETE|ID 1 HUgn0002008 DID 1 LocusLink:2008 NAM 1 elastin receptor 1, 67kDa ORG 1 Homo sapiens SYM 1 ELNR1 ID|HUgn0002008 DID|LocusLink:2008 ORG|Homo sapiens SYM|ELNR1 NAM|elastin receptor 1, 67kDa PRD|elastin receptor 1 (67kD) URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127960 } # EOR GENR { RETE|ID 1 HUgn0002009 CHR 1 14 DID 1 LocusLink:2009 MAP 1 14q32 NAM 1 echinoderm microtubule associated protein like 1 ORG 1 Homo sapiens SYM 1 EML1 ID|HUgn0002009 DID|LocusLink:2009 ORG|Homo sapiens RSQ|REFSEQ:NM_004434 RPA|REFPROT:NP_004425 DBA|XM:NM_004434 |NA:AK023861 |NA:BC032541 |NA:BC033043 |NA:U97018 |NA:none PAC|XP:NP_004425 SYM|EML1 NAM|echinoderm microtubule associated protein like 1 SYN|EMAP |ELP79 |EMAPL |HuEMAP FNC|echinoderm microtubule associated protein like 1 REAB|Human echinoderm microtubule-associated protein-like is a strong candidate for the |Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders |consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction |of variable onset and severity depending on the genetic type. The disease process |in USHs involves the entire brain and is not limited to the posterior fossa or auditory |and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, |USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the |most severe form. Gene loci responsible for these three types are all mapped. CHR|14 PRD|echinoderm microtubule-associated protein-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12451 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2009[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6328385 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004434 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004434 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=12451 DBL|UNIGENE:Hs.12451 |OMIM:602033 |SNP:2009 MAP|14q32 HG|species == Human; gene == EML2; score == 918; expect == 0.0; MEOW:HUgn0024139 (65%) |species == rat; score == 895; expect == 0.0; MEOW:ref|NP_620276.1| (64%) |species == Mouse; gene == 1600029N02Rik; score == 874; expect == 0.0; MEOW:MGgn0017049 (63%) |species == Human; gene == EML4; score == 812; expect == 0.0; MEOW:HUgn0027436 (56%) |species == Mosquito; score == 646; expect == 0.0; MEOW:AGgn0020028 (47%) |species == Fruitfly; gene == CG13466; score == 412; expect == 2e-115; MEOW:FBgn0036456 (37%) |species == Worm; gene == elp-1; score == 276; expect == 2.0e-74; MEOW:CEgn0010290 (27%) } # EOR GENR { RETE|ID 1 HUgn0002010 CHR 1 X DID 1 LocusLink:2010 MAP 1 Xq28 NAM 1 emerin (Emery-Dreifuss muscular dystrophy) ORG 1 Homo sapiens SYM 1 EMD ID|HUgn0002010 DID|LocusLink:2010 ORG|Homo sapiens RSQ|REFSEQ:NM_000117 RPA|REFPROT:NP_000108 DBA|XM:NM_000117 |NA:D64111 |NA:L44140 |NA:X86810 |NA:BC000738 |NA:X82434 |NA:none PAC|XP:NP_000108 SYM|EMD NAM|emerin (Emery-Dreifuss muscular dystrophy) SYN|STA |EDMD FNC|emerin |nonselective vesicle transport ; GO:0006899 |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated |protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery |muscular dystrophy is an X-linked inherited degenerative myopathy resulting from |mutation in the emerin gene. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2985 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2010[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119108 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000117 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000117 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2985 |http://www.geneclinics.org/query?mim=310300 |http://www.geneclinics.org/query?mim=300384 |http://www.dmd.nl |http://www.path.cam.ac.uk/emd/ DBL|UNIGENE:Hs.2985 |OMIM:300384 |SNP:2010 |UWCM:119108.html MAP|Xq28 PHP|Emery-Dreifuss muscular dystrophy CEL|nuclear membrane ; GO:0005635 |integral to membrane ; GO:0016021 HG|species == rat; score == 304; expect == 3.6e-83; MEOW:ref|NP_037080.1| (72%) |species == Mouse; gene == Emd; score == 303; expect == 4.7e-83; MEOW:MGgn0003812 (72%) } # EOR GENR { RETE|ID 1 HUgn0002011 CHR 1 11 DID 1 LocusLink:2011 MAP 1 11q12-q13 NAM 1 MAP/microtubule affinity-regulating kinase 2 ORG 1 Homo sapiens SYM 1 MARK2 ID|HUgn0002011 DID|LocusLink:2011 ORG|Homo sapiens RSQ|REFSEQ:NM_004954 |REFSEQ:NM_017490 RPA|REFPROT:NP_004945 |REFPROT:NP_059672 DBA|XM:NM_004954 |XM:NM_017490 |NA:U73647 |NA:AF387638 |NA:BC008771 |NA:BT007342 |NA:X97630 PAC|XP:NP_004945 |XP:NP_059672 SYM|MARK2 NAM|MAP/microtubule affinity-regulating kinase 2 SYN|EMK1 FNC|MAP/microtubule affinity-regulating kinase 2 isoform a |MAP/microtubule affinity-regulating kinase 2 isoform b |protein amino acid phosphorylation ; GO:0006468 REAB|EMK (ELKL Motif Kinase) is a small family of ser/thr protein kinases involved in |the control of cell polarity, microtubule stability and cancer. Several cDNA clones |have been isolated that encoded two isoforms of the human ser/thr protein kinase |EMK1. These isoforms were characterized by the presence of a 162-bp alternative |exon that gave rise to two forms, one containing the exon and the other one lacking |it. Both forms were found to be coexpressed in a number of selected cell lines and |tissue samples. The human EMK1 was shown to be encoded by a single mRNA ubiquitously |expressed. CHR|11 PRD|ELKL motif kinase |ELKL motif kinase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=157199 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2011[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386060 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017490 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017490 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=157199 DBL|UNIGENE:Hs.157199 |OMIM:600526 |SNP:2011 MAP|11q12-q13 ENZ|protein serine/threonine kinase activity ; GO:0004674 CEL|microtubule cytoskeleton ; GO:0015630 HG|species == rat; score == 1340; expect == 0.0; MEOW:ref|NP_067731.1| (97%) |species == Mouse; gene == Mark2; score == 1243; expect == 0.0; MEOW:MGgn0003814 (86%) |species == Human; gene == MARK1; score == 924; expect == 0.0; MEOW:HUgn0004139 (65%) |species == Human; gene == MARK3; score == 887; expect == 0.0; MEOW:HUgn0004140 (67%) |species == Fruitfly; gene == KP78a; score == 458; expect == 2e-129; MEOW:FBgn0026064 (42%) |species == Fruitfly; gene == KP78b; score == 421; expect == 5e-118; MEOW:FBgn0026063 (42%) |species == Mosquito; gene == LOC18227; score == 355; expect == 2.6e-98; MEOW:AGgn0018227 (54%) |species == Mosquito; score == 333; expect == 1.1e-91; MEOW:AGgn0004268 (50%) |species == Mosquito; score == 317; expect == 1.0e-86; MEOW:AGgn0018224 (62%) |species == Yeast; gene == SNF1; score == 293; expect == 6.2e-80; MEOW:SGgn0002885 (37%) |species == Mosquito; score == 292; expect == 2.8e-79; MEOW:AGgn0026774 (38%) |species == rice; score == 291; expect == 1.9e-78; MEOW:gnl|TIGR|8353.m04039 (42%) |species == Weed; gene == At3g29160; score == 289; expect == 2.9e-78; MEOW:ATgn0015422 (44%) |species == Weed; gene == At3g01090; score == 284; expect == 1.4e-76; MEOW:ATgn0011938 (40%) |species == Weed; gene == At5g39440; score == 278; expect == 5.7e-75; MEOW:ATgn0025605 (44%) |species == rice; score == 278; expect == 1.6e-74; MEOW:gnl|TIGR|8360.m01639 (44%) |species == Worm; gene == T01C8.1b; score == 258; expect == 7.1e-69; MEOW:CEgn0029625 (38%) |species == Worm; gene == T01C8.1a; score == 257; expect == 1.2e-68; MEOW:CEgn0029624 (38%) |species == Worm; gene == T01C8.1c; score == 257; expect == 1.1e-68; MEOW:CEgn0032427 (38%) |species == Worm; gene == B0496.3a; score == 255; expect == 1.6e-67; MEOW:CEgn0027722 (43%) |species == Worm; gene == B0496.3b; score == 255; expect == 1.7e-67; MEOW:CEgn0027723 (43%) |species == Worm; gene == PAR2.3a; score == 249; expect == 2.5e-66; MEOW:CEgn0032346 (47%) |species == rice; score == 244; expect == 1.1e-64; MEOW:gnl|TIGR|8360.m01877 (41%) |species == Weed; gene == At1g30270; score == 243; expect == 3.5e-64; MEOW:ATgn0006439 (40%) |species == Worm; gene == F49C5.4; score == 243; expect == 1.8e-64; MEOW:CEgn0011311 (47%) |species == Worm; gene == W03G1.6a; score == 243; expect == 1.8e-64; MEOW:CEgn0032600 (27%) |species == Weed; gene == At4g18700; score == 241; expect == 5.1e-64; MEOW:ATgn0019786 (45%) |species == Weed; gene == At5g21326; score == 240; expect == 1.3e-63; MEOW:ATgn0030555 (42%) |species == rice; score == 239; expect == 2.4e-63; MEOW:gnl|TIGR|8355.m00462 (42%) |species == Weed; gene == At1g01140; score == 238; expect == 5.0e-63; MEOW:ATgn0002263 (40%) |species == rice; score == 237; expect == 1.3e-62; MEOW:gnl|TIGR|8356.m03645 (40%) |species == rice; score == 236; expect == 1.9e-62; MEOW:gnl|TIGR|8355.m04669 (40%) |species == Weed; gene == At2g26980; score == 235; expect == 5.5e-62; MEOW:ATgn0009853 (41%) |species == Weed; gene == At2g30360; score == 234; expect == 1.2e-61; MEOW:ATgn0007878 (42%) |species == Weed; gene == At5g45810; score == 233; expect == 1.8e-61; MEOW:ATgn0025160 (43%) |species == Weed; gene == At4g24400; score == 232; expect == 3.6e-61; MEOW:ATgn0019018 (44%) |species == Worm; gene == W03G1.6b; score == 228; expect == 1.2e-59; MEOW:CEgn0032601 (44%) |species == Zfish; gene == stka; score == 157; expect == 1.3e-39; MEOW:ZFgn0002572 (32%) |species == chimp; score == 149; expect == 9.1e-38; MEOW:sp|BAC81132|BAC81132 (32%) |species == Zfish; gene == nek8; score == 147; expect == 1.3e-36; MEOW:ZFgn0002592 (35%) |species == Zfish; gene == prkci; score == 146; expect == 2.9e-36; MEOW:ZFgn0002337 (34%) |species == Zfish; gene == cask; score == 142; expect == 2.5e-35; MEOW:ZFgn0002612 (34%) |species == Zfish; gene == pim1; score == 130; expect == 1.6e-31; MEOW:ZFgn0000872 (30%) |species == chimp; score == 130; expect == 4.4e-32; MEOW:sp|BAC81129|BAC81129 (30%) } # EOR GENR { RETE|ID 1 HUgn0002012 CHR 1 12 DID 1 LocusLink:2012 MAP 1 12p12.3 NAM 1 epithelial membrane protein 1 ORG 1 Homo sapiens SYM 1 EMP1 ID|HUgn0002012 DID|LocusLink:2012 ORG|Homo sapiens RSQ|REFSEQ:NM_001423 RPA|REFPROT:NP_001414 DBA|XM:NM_001423 |NA:BC017854 |NA:BC047300 |NA:U43916 |NA:U77085 |NA:Y07909 |NA:Z50751 |NA:none PAC|XP:NP_001414 SYM|EMP1 NAM|epithelial membrane protein 1 SYN|TMP |CL-20 FNC|epithelial membrane protein 1 |epidermal differentiation ; GO:0008544 |cell death ; GO:0008219 |development ; GO:0007275 |cell proliferation ; GO:0008283 |cell growth ; GO:0016049 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=306692 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2012[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9754126 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001423 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001423 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=306692 DBL|UNIGENE:Hs.306692 |OMIM:602333 |SNP:2012 MAP|12p12.3 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 251; expect == 8.8e-68; MEOW:ref|NP_036975.1| (74%) |species == Mouse; gene == Emp1; score == 250; expect == 2.3e-67; MEOW:MGgn0003818 (75%) } # EOR GENR { RETE|ID 1 HUgn0002013 CHR 1 16 DID 1 LocusLink:2013 MAP 1 16p13.2 NAM 1 epithelial membrane protein 2 ORG 1 Homo sapiens SYM 1 EMP2 ID|HUgn0002013 DID|LocusLink:2013 ORG|Homo sapiens RSQ|REFSEQ:NM_001424 RPA|REFPROT:NP_001415 DBA|XM:NM_001424 |NA:BC009687 |NA:BC016019 |NA:U52100 |NA:X94770 |NA:none PAC|XP:NP_001415 SYM|EMP2 NAM|epithelial membrane protein 2 SYN|XMP FNC|epithelial membrane protein 2 |cell death ; GO:0008219 |development ; GO:0007275 |cell proliferation ; GO:0008283 CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511911 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2013[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9754127 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001424 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001424 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511911 DBL|UNIGENE:Hs.511911 |OMIM:602334 |SNP:2013 MAP|16p13.2 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Emp2; score == 249; expect == 4.3e-67; MEOW:MGgn0003819 (75%) |species == rat; score == 246; expect == 3.2e-66; MEOW:ref|XP_340745.1| (74%) } # EOR GENR { RETE|ID 1 HUgn0002014 CHR 1 19 DID 1 LocusLink:2014 MAP 1 19q13.3 NAM 1 epithelial membrane protein 3 ORG 1 Homo sapiens SYM 1 EMP3 ID|HUgn0002014 DID|LocusLink:2014 ORG|Homo sapiens RSQ|REFSEQ:NM_001425 RPA|REFPROT:NP_001416 DBA|XM:NM_001425 |NA:BC009718 |NA:U52101 |NA:U87947 |NA:X94771 |NA:none PAC|XP:NP_001416 SYM|EMP3 NAM|epithelial membrane protein 3 SYN|YMP FNC|epithelial membrane protein 3 |negative regulation of cell proliferation ; GO:0008285 |cell death ; GO:0008219 |development ; GO:0007275 |cell proliferation ; GO:0008283 |cell growth ; GO:0016049 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9999 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2014[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9754128 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001425 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001425 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9999 DBL|UNIGENE:Hs.9999 |OMIM:602335 |SNP:2014 MAP|19q13.3 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Emp3; score == 252; expect == 4.9e-68; MEOW:MGgn0003820 (92%) |species == rat; score == 249; expect == 4.7e-67; MEOW:ref|NP_110474.1| (92%) } # EOR GENR { RETE|ID 1 HUgn0002015 CHR 1 19 DID 1 LocusLink:2015 MAP 1 19p13.3 NAM 1 egf-like module containing, mucin-like, hormone receptor-like sequence 1 ORG 1 Homo sapiens SYM 1 EMR1 ID|HUgn0002015 DID|LocusLink:2015 ORG|Homo sapiens RSQ|REFSEQ:NM_001974 RPA|REFPROT:NP_001965 DBA|XM:NM_001974 |NA:BC059395 |NA:X81479 |NA:none PAC|XP:NP_001965 SYM|EMR1 NAM|egf-like module containing, mucin-like, hormone receptor-like sequence 1 FNC|egf-like module containing, mucin-like, hormone receptor-like sequence 1 |neuropeptide signaling pathway ; GO:0007218 |cell adhesion ; GO:0007155 REAB|Egf-like module containing, mucin-like, hormone receptor-like sequence 1 has a domain |resembling 7 transmembrane G protein-coupled hormone receptors at its C-terminus. |The N terminus of EMR1 has 6 EGF-like modules, separated from the transmembrane |segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, |single-span, integral membrane glycoproteins with adhesive properties. CHR|19 PRD|egf-like module containing, mucin-like, hormone receptor-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2375 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2015[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:378349 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001974 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001974 DBL|UNIGENE:Hs.2375 |OMIM:600493 |SNP:2015 MAP|19p13.3 ENZ|G-protein coupled receptor activity ; GO:0004930 |calcium ion binding ; GO:0005509 |receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 763; expect == 0.0; MEOW:ref|XP_236797.2| (56%) |species == Human; gene == EMR2; score == 453; expect == 2e-127; MEOW:HUgn0030817 (37%) |species == Human; gene == EMR3; score == 420; expect == 2e-117; MEOW:HUgn0084658 (38%) |species == Mouse; gene == Emr4; score == 384; expect == 9e-107; MEOW:MGgn0002324 (37%) |species == Worm; gene == lat-2; score == 186; expect == 6.6e-47; MEOW:CEgn0003348 (30%) |species == Mosquito; score == 172; expect == 4.2e-43; MEOW:AGgn0028714 (32%) |species == Mosquito; gene == LOC17954; score == 166; expect == 3.9e-41; MEOW:AGgn0017954 (36%) |species == Mosquito; gene == LOC11881; score == 165; expect == 6.7e-41; MEOW:AGgn0011881 (31%) |species == Worm; gene == ZK783.1; score == 156; expect == 5.0e-38; MEOW:CEgn0021184 (27%) |species == Fruitfly; gene == CG31999; score == 156; expect == 2.5e-38; MEOW:FBgn0051999 (34%) |species == Worm; gene == lat-1; score == 155; expect == 8.5e-38; MEOW:CEgn0031046 (30%) |species == Zfish; gene == fbln1; score == 144; expect == 8.5e-36; MEOW:ZFgn0000527 (34%) |species == Mosquito; gene == LOC16117; score == 142; expect == 8.1e-34; MEOW:AGgn0016117 (28%) } # EOR GENR { RETE|ID 1 HUgn0002016 CHR 1 2 DID 1 LocusLink:2016 MAP 1 2p14-p13 NAM 1 empty spiracles homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 EMX1 ID|HUgn0002016 DID|LocusLink:2016 ORG|Homo sapiens DBA|XM:XM_351440 |NA:X68879 |NA:none PAC|XP:XP_351441 SYM|EMX1 NAM|empty spiracles homolog 1 (Drosophila) CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=376580 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2016[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:277885 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=X68879 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=X68879 DBL|UNIGENE:Hs.376580 |OMIM:600034 |SNP:2016 MAP|2p14-p13 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Emx2; score == 290; expect == 4.6e-79; MEOW:MGgn0003885 (61%) |species == Human; gene == EMX2; score == 285; expect == 1.3e-77; MEOW:HUgn0002018 (61%) |species == Zfish; gene == emx2; score == 278; expect == 8.7e-77; MEOW:ZFgn0000558 (57%) |species == rat; score == 273; expect == 8.8e-74; MEOW:ref|XP_217652.2| (54%) |species == Zfish; gene == emx3; score == 263; expect == 5.9e-71; MEOW:ZFgn0000557 (56%) } # EOR GENR { RETE|ID 1 HUgn0002017 CHR 1 11 DID 1 LocusLink:2017 MAP 1 11q13 NAM 1 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) ORG 1 Homo sapiens SYM 1 EMS1 ID|HUgn0002017 DID|LocusLink:2017 ORG|Homo sapiens RSQ|REFSEQ:NM_005231 |REFSEQ:NM_138565 RPA|REFPROT:NP_005222 |REFPROT:NP_612632 DBA|XM:NM_005231 |XM:NM_138565 |NA:AJ288897 |NA:AK023333 |NA:AU124856 |NA:BC008799 |NA:BC033889 |NA:M98343 PAC|XP:NP_005222 |XP:NP_612632 SYM|EMS1 NAM|ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) SYN|Cttn FNC|cortactin isoform a |cortactin isoform b REAB|This gene is overexpressed in breast cancer and squamous cell carcinomas of the head |and neck. The encoded protein is localized in the cytoplasm and in areas of the |cell-substratum contacts. This gene has two roles: (1) regulating the interactions |between components of adherens-type junctions and (2) organizing the cytoskeleton |and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, |the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation |of this gene contributes to tumor cell invasion and metastasis. Two splice variants |that encode different isoforms have been identified for this gene. CHR|11 PRD|cortactin |oncogene EMS1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=301348 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2017[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:202962 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005231 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005231 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=301348 DBL|UNIGENE:Hs.301348 |OMIM:164765 |SNP:2017 MAP|11q13 CEL|soluble fraction ; GO:0005625 |peripheral plasma membrane protein ; GO:0000157 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Cttn; score == 956; expect == 0.0; MEOW:MGgn0001765 (92%) |species == rat; score == 840; expect == 0.0; MEOW:ref|NP_068640.1| (79%) |species == Fruitfly; gene == Cortactin; score == 376; expect == 1e-104; MEOW:FBgn0025865 (41%) |species == Human; gene == HCLS1; score == 336; expect == 2.3e-92; MEOW:HUgn0003059 (61%) |species == Mosquito; score == 283; expect == 7.4e-77; MEOW:AGgn0029554 (55%) |species == Mosquito; score == 253; expect == 1.1e-67; MEOW:AGgn0020974 (60%) } # EOR GENR { RETE|ID 1 HUgn0002018 CHR 1 10 DID 1 LocusLink:2018 MAP 1 10q26.1 NAM 1 empty spiracles homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 EMX2 ID|HUgn0002018 DID|LocusLink:2018 ORG|Homo sapiens RSQ|REFSEQ:NM_004098 RPA|REFPROT:NP_004089 DBA|XM:NM_004098 |NA:AF301598 |NA:AK055041 |NA:AL161811 |NA:BC010043 |NA:X68880 |NA:none PAC|XP:NP_004089 SYM|EMX2 NAM|empty spiracles homolog 2 (Drosophila) FNC|empty spiracles homolog 2 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|The homeodomain transcription factor EMX2 is critical for central nervous system |and urogenital development. EMX1 (MIM 600034) and EMX2 are related to the 'empty |spiracles' gene expressed in the developing Drosophila head.[supplied by OMIM] CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=202095 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2018[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:277886 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004098 |http://www.geneclinics.org/query?mim=600035 DBL|UNIGENE:Hs.202095 |OMIM:600035 |SNP:2018 MAP|10q26.1 PHP|Schizencephaly ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Emx2; score == 416; expect == 5e-117; MEOW:MGgn0003885 (99%) |species == Zfish; gene == emx2; score == 403; expect == 2e-114; MEOW:ZFgn0000558 (92%) |species == rat; score == 399; expect == 8e-112; MEOW:ref|XP_217652.2| (88%) |species == Human; gene == EMX1; score == 285; expect == 1.3e-77; MEOW:HUgn0002016 (61%) |species == Fruitfly; gene == E5; score == 130; expect == 5.3e-31; MEOW:FBgn0008646 (62%) } # EOR GENR { RETE|ID 1 HUgn0002019 CHR 1 2 DID 1 LocusLink:2019 MAP 1 2q13-q21 NAM 1 engrailed homolog 1 ORG 1 Homo sapiens SYM 1 EN1 ID|HUgn0002019 DID|LocusLink:2019 ORG|Homo sapiens RSQ|REFSEQ:NM_001426 RPA|REFPROT:NP_001417 DBA|XM:NM_001426 |NA:L12698 |NA:L12699 |NA:none PAC|XP:NP_001417 SYM|EN1 NAM|engrailed homolog 1 FNC|engrailed homolog 1 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 REAB|Homeobox-containing genes are thought to have a role in controlling development. |In Drosophila, the 'engrailed' (en) gene plays an important role during development |in segmentation, where it is required for the formation of posterior compartments. |Different mutations in the mouse homologs, En1 and En2, produced different developmental |defects that frequently are lethal. The human engrailed homologs 1 and 2 encode |homeodomain-containing proteins and have been implicated in the control of pattern |formation during development of the central nervous system. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=271977 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2019[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119869 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001426 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001426 DBL|UNIGENE:Hs.271977 |OMIM:131290 |SNP:2019 MAP|2q13-q21 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == En1; score == 400; expect == 4e-112; MEOW:MGgn0003886 (83%) |species == Zfish; gene == eng1b; score == 246; expect == 6.8e-66; MEOW:ZFgn0000191 (53%) |species == rat; score == 234; expect == 8.2e-62; MEOW:ref|XP_222571.2| (70%) |species == Zfish; gene == eng2a; score == 203; expect == 6.1e-54; MEOW:ZFgn0000030 (83%) |species == Human; gene == EN2; score == 201; expect == 7.6e-52; MEOW:HUgn0002020 (84%) |species == Zfish; gene == eng1a; score == 201; expect == 2.7e-52; MEOW:ZFgn0000052 (79%) |species == Zfish; gene == eng2b; score == 197; expect == 5.7e-52; MEOW:ZFgn0000131 (81%) |species == Mosquito; gene == LOC23635; score == 177; expect == 1.4e-44; MEOW:AGgn0023635 (70%) |species == Fruitfly; gene == en; score == 176; expect == 2.3e-44; MEOW:FBgn0000577 (70%) |species == Fruitfly; gene == inv; score == 166; expect == 2.5e-41; MEOW:FBgn0001269 (61%) } # EOR GENR { RETE|ID 1 HUgn0002020 CHR 1 7 DID 1 LocusLink:2020 MAP 1 7q36 NAM 1 engrailed homolog 2 ORG 1 Homo sapiens SYM 1 EN2 ID|HUgn0002020 DID|LocusLink:2020 ORG|Homo sapiens RSQ|REFSEQ:NM_001427 RPA|REFPROT:NP_001418 DBA|XM:NM_001427 |XM:NM_001427 |NA:J03066 |NA:L12700 |NA:L12701 |NA:none PAC|XP:NP_001418 |XP:NP_001418 SYM|EN2 NAM|engrailed homolog 2 FNC|engrailed homolog 2 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|Homeobox-containing genes are thought to have a role in controlling development. |In Drosophila, the 'engrailed' (en) gene plays an important role during development |in segmentation, where it is required for the formation of posterior compartments. |Different mutations in the mouse homologs, En1 and En2, produced different developmental |defects that frequently are lethal. The human engrailed homologs 1 and 2 encode |homeodomain-containing proteins and have been implicated in the control of pattern |formation during development of the central nervous system. CHR|7 PRD|Engrailed-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=134989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2020[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119870 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001427 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001427 DBL|UNIGENE:Hs.134989 |OMIM:131310 |SNP:2020 MAP|7q36 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == En2; score == 371; expect == 3e-103; MEOW:MGgn0003887 (83%) |species == Zfish; gene == eng2b; score == 221; expect == 3.1e-58; MEOW:ZFgn0000131 (55%) |species == Human; gene == EN1; score == 201; expect == 7.6e-52; MEOW:HUgn0002019 (84%) |species == Mouse; gene == En1; score == 201; expect == 7.8e-52; MEOW:MGgn0003886 (84%) |species == Zfish; gene == eng2a; score == 198; expect == 2.8e-51; MEOW:ZFgn0000030 (56%) |species == Zfish; gene == eng1b; score == 195; expect == 2.3e-50; MEOW:ZFgn0000191 (83%) |species == Zfish; gene == eng1a; score == 189; expect == 8.2e-49; MEOW:ZFgn0000052 (76%) |species == Fruitfly; gene == en; score == 179; expect == 3.6e-45; MEOW:FBgn0000577 (74%) |species == Mosquito; gene == LOC23635; score == 177; expect == 1.1e-44; MEOW:AGgn0023635 (68%) |species == Fruitfly; gene == inv; score == 167; expect == 1.9e-41; MEOW:FBgn0001269 (62%) |species == rat; score == 146; expect == 1.8e-35; MEOW:ref|XP_222571.2| (85%) } # EOR GENR { RETE|ID 1 HUgn0002021 CHR 1 9 DID 1 LocusLink:2021 MAP 1 9q34.1 NAM 1 endonuclease G ORG 1 Homo sapiens SYM 1 ENDOG ID|HUgn0002021 DID|LocusLink:2021 ORG|Homo sapiens RSQ|REFSEQ:NM_004435 RPA|REFPROT:NP_004426 DBA|XM:NM_004435 |NA:BC004922 |NA:BC016351 |NA:X79444 |NA:none PAC|XP:NP_004426 SYM|ENDOG NAM|endonuclease G FNC|endonuclease G precursor |DNA metabolism ; GO:0006259 REAB|Endonuclease G (ENDOG) is a nuclear encoded protein that is localized in the mitochondria. |Endonuclease G (Endo G) is widely distributed among animals and cleaves DNA at GC |tracts. Endo G is capable of generating the RNA primers required by DNA polymerase |gamma to initiate replication of mitochondrial DNA. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=420106 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2021[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386191 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004435 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004435 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=420106 DBL|UNIGENE:Hs.420106 |OMIM:600440 |SNP:2021 MAP|9q34.1 ENZ|endonuclease activity ; GO:0004519 |DNA binding ; GO:0003677 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Endog; score == 458; expect == 9e-130; MEOW:MGgn0003892 (94%) |species == rat; score == 457; expect == 3e-129; MEOW:ref|XP_342405.1| (93%) |species == Mosquito; gene == LOC18575; score == 264; expect == 3.4e-71; MEOW:AGgn0018575 (50%) |species == Fruitfly; gene == CG8862; score == 254; expect == 5.5e-68; MEOW:FBgn0033690 (48%) |species == Worm; gene == cps-6; score == 229; expect == 1.9e-60; MEOW:CEgn0029089 (48%) |species == Yeast; gene == NUC1; score == 178; expect == 4.1e-45; MEOW:SGgn0003744 (42%) |species == Human; gene == ENDOGL1; score == 173; expect == 1.2e-43; MEOW:HUgn0009941 (37%) } # EOR GENR { RETE|ID 1 HUgn0002022 CHR 1 9 DID 1 LocusLink:2022 MAP 1 9q33-q34.1 NAM 1 endoglin (Osler-Rendu-Weber syndrome 1) ORG 1 Homo sapiens SYM 1 ENG ID|HUgn0002022 DID|LocusLink:2022 ORG|Homo sapiens RSQ|REFSEQ:NM_000118 RPA|REFPROT:NP_000109 DBA|XM:NM_000118 |NA:AF035753 |NA:U37439 |NA:BC014271 |NA:BC020391 |NA:BT006872 |NA:J05481 |NA:X72012 |NA:none PAC|XP:NP_000109 SYM|ENG NAM|endoglin (Osler-Rendu-Weber syndrome 1) SYN|END |ORW |HHT1 |ORW1 |CD105 FNC|endoglin precursor |circulation ; GO:0008015 |histogenesis and organogenesis ; GO:0007397 |cell adhesion ; GO:0007155 REAB|Endoglin is a homodimeric transmembrane glycoprotein highly expressed by endothelial |cells. It is a component of the transforming growth factor beta receptor complex |as it binds TGFB1 and TGFB3 with high affinity. Mutations in the endoglin gene produce |hereditary hemorrhagic telangiectasia. CHR|9 PRD|Endoglin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76753 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2022[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137193 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000118 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000118 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76753 |http://www.geneclinics.org/query?mim=131195 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27785 DBL|UNIGENE:Hs.76753 |OMIM:131195 |SNP:2022 |PROW:948384634 |UWCM:137193.html MAP|9q33-q34.1 PHP|Hereditary hemorrhagic telangiectasia-1 ENZ|protein binding ; GO:0005515 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Eng; score == 804; expect == 0.0; MEOW:MGgn0003893 (69%) } # EOR GENR { RETE|ID 1 HUgn0002023 CHR 1 1 DID 1 LocusLink:2023 MAP 1 1p36.3-p36.2 NAM 1 enolase 1, (alpha) ORG 1 Homo sapiens SYM 1 ENO1 ID|HUgn0002023 DID|LocusLink:2023 ORG|Homo sapiens RSQ|REFSEQ:NM_001428 RPA|REFPROT:NP_001419 DBA|XM:NM_001428 |NA:X16287 |NA:X16288 |NA:AF035286 |NA:AK090592 |NA:AK098420 |NA:AL833741 |NA:BC001810 |NA:BC004325 |NA:BC004458 |NA:BC009218 |NA:BC009912 |NA:BC011130 |NA:BC015641 |NA:BC021166 |NA:BC022545 |NA:BC027725 |NA:BC050642 |NA:BT007163 |NA:BX537400 |NA:M14328 |NA:M55914 |NA:U88968 |NA:X84907 PAC|XP:NP_001419 SYM|ENO1 NAM|enolase 1, (alpha) SYN|NNE |PPH |MPB1 |MBP-1 |ENO1L1 FNC|enolase 1 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, |a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens |protein, tau-crystallin. The two proteins are made from the same message. The full |length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is |produced from an alternative translation start, is localized to the nucleus, and |has been found to bind to an element in the c-myc promoter. A pseudogene has been |identified that is located on the other arm of the same chromosome. CHR|1 PRD|tau-crystallin |non-neural enolase |phosphopyruvate hydratase |MYC promoter-binding protein 1 |2-phospho-D-glycerate hydro-lyase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433455 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2023[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119871 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001428 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001428 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433455 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00400 DBL|UNIGENE:Hs.433455 |OMIM:172430 |SNP:2023 ENZ|EC:4.2.1.11 |phosphopyruvate hydratase activity ; GO:0004634 |transcription co-repressor activity ; GO:0003714 |DNA binding ; GO:0003677 |transcription factor activity ; GO:0003700 MAP|1p36.3-p36.2 PHP|Enolase deficiency HG|species == Mouse; gene == Eno1; score == 824; expect == 0.0; MEOW:MGgn0003894 (94%) |species == rat; score == 815; expect == 0.0; MEOW:ref|NP_036686.1| (94%) |species == rat; score == 757; expect == 0.0; MEOW:ref|XP_214330.2| (88%) |species == rat; score == 753; expect == 0.0; MEOW:ref|XP_227366.2| (88%) |species == Human; gene == ENO2; score == 741; expect == 0.0; MEOW:HUgn0002026 (83%) |species == Mouse; gene == Eno3; score == 737; expect == 0.0; MEOW:MGgn0003896 (83%) |species == Mouse; gene == Eno2; score == 735; expect == 0.0; MEOW:MGgn0003895 (83%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_647541.1| (83%) |species == Human; gene == ENO3; score == 733; expect == 0.0; MEOW:HUgn0002027 (83%) |species == rat; score == 726; expect == 0.0; MEOW:ref|NP_037081.1| (82%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_231450.2| (82%) |species == rat; score == 678; expect == 0.0; MEOW:ref|XP_219757.2| (83%) |species == Mosquito; gene == LOC18531; score == 666; expect == 0.0; MEOW:AGgn0018531 (76%) |species == Worm; gene == T21B10.2a; score == 659; expect == 0.0; MEOW:CEgn0032526 (75%) |species == Fruitfly; gene == Eno; score == 637; expect == 0.0; MEOW:FBgn0000579 (72%) |species == Weed; gene == At2g36530; score == 607; expect == 3e-174; MEOW:ATgn0007823 (71%) |species == Weed; gene == At1g74030; score == 583; expect == 8e-167; MEOW:ATgn0000073 (68%) |species == rice; score == 581; expect == 2e-166; MEOW:gnl|TIGR|8354.m00350 (68%) |species == rice; score == 555; expect == 2e-158; MEOW:gnl|TIGR|8357.m01758 (67%) |species == Yeast; gene == ENO1; score == 554; expect == 9e-159; MEOW:SGgn0003486 (63%) |species == Yeast; gene == ENO2; score == 547; expect == 2e-156; MEOW:SGgn0001217 (62%) |species == rice; score == 547; expect == 1e-155; MEOW:gnl|TIGR|8362.m03556 (65%) |species == Yeast; gene == ERR1; score == 521; expect == 3e-148; MEOW:SGgn0005920 (59%) |species == Yeast; gene == ERR2; score == 521; expect == 3e-148; MEOW:SGgn0006202 (59%) |species == Yeast; gene == YMR323W; score == 520; expect == 1e-148; MEOW:SGgn0004942 (59%) |species == Weed; gene == At2g29560; score == 487; expect == 5e-138; MEOW:ATgn0007200 (56%) |species == ecoli; score == 407; expect == 7e-115; MEOW:ref|NP_417259.1| (52%) } # EOR GENR { RETE|ID 1 HUgn0002025 CHR 1 1 DID 1 LocusLink:2025 MAP 1 1q42.3 NAM 1 enolase 1, (alpha) pseudogene ORG 1 Homo sapiens SYM 1 ENO1P ID|HUgn0002025 DID|LocusLink:2025 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X15277 SYM|ENO1P NAM|enolase 1, (alpha) pseudogene CHR|1 MAP|1q42.3 DBL|SNP:2025 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135006 } # EOR GENR { RETE|ID 1 HUgn0002026 CHR 1 12 DID 1 LocusLink:2026 MAP 1 12p13 NAM 1 enolase 2, (gamma, neuronal) ORG 1 Homo sapiens SYM 1 ENO2 ID|HUgn0002026 DID|LocusLink:2026 ORG|Homo sapiens RSQ|REFSEQ:NM_001975 RPA|REFPROT:NP_001966 DBA|XM:NM_001975 |NA:U47924 |NA:X51956 |NA:AK124656 |NA:BC002745 |NA:BT007383 |NA:M22349 |NA:M36768 |NA:X13120 |NA:X14327 |NA:Y00691 |NA:none PAC|XP:NP_001966 SYM|ENO2 NAM|enolase 2, (gamma, neuronal) SYN|NSE FNC|enolase 2 |glycolysis ; GO:0006096 REAB|This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, |a homodimer, is found in mature neurons and cells of neuronal origin. A switch from |alpha enolase to gamma enolase occurs in neural tissue during development in rats |and primates. CHR|12 PRD|gamma enolase |neural enolase |neurone-specific enolase |enolase-2, gamma, neuronal |neuron specific gamma enolase |2-phospho-D-glycerate hydrolyase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511915 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2026[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119872 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001975 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001975 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511915 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00400 DBL|UNIGENE:Hs.511915 |OMIM:131360 |SNP:2026 ENZ|EC:4.2.1.11 |phosphopyruvate hydratase activity ; GO:0004634 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|12p13 CEL|phosphopyruvate hydratase complex ; GO:0000015 HG|species == Mouse; gene == Eno2; score == 853; expect == 0.0; MEOW:MGgn0003895 (98%) |species == rat; score == 847; expect == 0.0; MEOW:ref|NP_647541.1| (97%) |species == Human; gene == ENO1; score == 741; expect == 0.0; MEOW:HUgn0002023 (83%) |species == Mouse; gene == Eno3; score == 736; expect == 0.0; MEOW:MGgn0003896 (83%) |species == Human; gene == ENO3; score == 734; expect == 0.0; MEOW:HUgn0002027 (83%) |species == Mouse; gene == Eno1; score == 733; expect == 0.0; MEOW:MGgn0003894 (83%) |species == rat; score == 729; expect == 0.0; MEOW:ref|NP_036686.1| (83%) |species == rat; score == 721; expect == 0.0; MEOW:ref|NP_037081.1| (82%) |species == Mosquito; gene == LOC18531; score == 651; expect == 0.0; MEOW:AGgn0018531 (75%) |species == Worm; gene == T21B10.2a; score == 646; expect == 0.0; MEOW:CEgn0032526 (73%) |species == Fruitfly; gene == Eno; score == 627; expect == 2e-180; MEOW:FBgn0000579 (72%) |species == Weed; gene == At2g36530; score == 582; expect == 1e-166; MEOW:ATgn0007823 (69%) |species == Weed; gene == At1g74030; score == 577; expect == 6e-165; MEOW:ATgn0000073 (66%) |species == rice; score == 574; expect == 3e-164; MEOW:gnl|TIGR|8354.m00350 (68%) |species == rice; score == 554; expect == 7e-158; MEOW:gnl|TIGR|8357.m01758 (67%) |species == Yeast; gene == ENO1; score == 550; expect == 1e-157; MEOW:SGgn0003486 (62%) |species == Yeast; gene == ENO2; score == 538; expect == 5e-154; MEOW:SGgn0001217 (60%) |species == rice; score == 530; expect == 2e-150; MEOW:gnl|TIGR|8362.m03556 (64%) |species == Yeast; gene == ERR1; score == 521; expect == 3e-148; MEOW:SGgn0005920 (59%) |species == Yeast; gene == ERR2; score == 521; expect == 3e-148; MEOW:SGgn0006202 (59%) |species == Yeast; gene == YMR323W; score == 520; expect == 2e-148; MEOW:SGgn0004942 (58%) |species == Weed; gene == At2g29560; score == 486; expect == 8e-138; MEOW:ATgn0007200 (56%) |species == ecoli; score == 413; expect == 1e-116; MEOW:ref|NP_417259.1| (52%) } # EOR GENR { RETE|ID 1 HUgn0002027 CHR 1 17 DID 1 LocusLink:2027 MAP 1 17pter-p11 NAM 1 enolase 3, (beta, muscle) ORG 1 Homo sapiens SYM 1 ENO3 ID|HUgn0002027 DID|LocusLink:2027 ORG|Homo sapiens RSQ|REFSEQ:NM_001976 |REFSEQ:NM_053013 RPA|REFPROT:NP_001967 |REFPROT:NP_443739 DBA|XM:NM_001976 |XM:NM_053013 |NA:X56832 |NA:BC017249 |NA:X16504 |NA:X51957 |NA:none PAC|XP:NP_001967 |XP:NP_443739 SYM|ENO3 NAM|enolase 3, (beta, muscle) SYN|MSE FNC|enolase 3 |glycolysis ; GO:0006096 REAB|This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, |a homodimer, is found in skeletal muscle cells in the adult. A switch from alpha |enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations |in this gene can be associated with metabolic myopathies that may result from decreased |stability of the enzyme. Two transcripts have been identified for this gene that |differ only in their 5' UTR. CHR|17 PRD|beta enolase |enolase-3, beta, muscle |muscle specific enolase |skeletal muscle enolase |2-phospho-D-glycerate hydrolyase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=224171 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2027[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119873 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001976 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001976 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=224171 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00400 DBL|UNIGENE:Hs.224171 |OMIM:131370 |SNP:2027 ENZ|EC:4.2.1.11 |phosphopyruvate hydratase activity ; GO:0004634 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|17pter-p11 CEL|phosphopyruvate hydratase complex ; GO:0000015 HG|species == Mouse; gene == Eno3; score == 821; expect == 0.0; MEOW:MGgn0003896 (97%) |species == rat; score == 804; expect == 0.0; MEOW:ref|NP_037081.1| (95%) |species == rat; score == 736; expect == 0.0; MEOW:ref|NP_647541.1| (84%) |species == Mouse; gene == Eno1; score == 735; expect == 0.0; MEOW:MGgn0003894 (83%) |species == Human; gene == ENO2; score == 734; expect == 0.0; MEOW:HUgn0002026 (83%) |species == Human; gene == ENO1; score == 733; expect == 0.0; MEOW:HUgn0002023 (83%) |species == Mouse; gene == Eno2; score == 732; expect == 0.0; MEOW:MGgn0003895 (83%) |species == rat; score == 724; expect == 0.0; MEOW:ref|NP_036686.1| (82%) |species == rat; score == 674; expect == 0.0; MEOW:ref|XP_214330.2| (78%) |species == rat; score == 667; expect == 0.0; MEOW:ref|XP_227366.2| (78%) |species == Mosquito; gene == LOC18531; score == 640; expect == 0.0; MEOW:AGgn0018531 (74%) |species == Worm; gene == T21B10.2a; score == 637; expect == 0.0; MEOW:CEgn0032526 (73%) |species == Fruitfly; gene == Eno; score == 610; expect == 3e-175; MEOW:FBgn0000579 (72%) |species == Weed; gene == At2g36530; score == 595; expect == 2e-170; MEOW:ATgn0007823 (71%) |species == rice; score == 582; expect == 1e-166; MEOW:gnl|TIGR|8354.m00350 (68%) |species == Weed; gene == At1g74030; score == 574; expect == 3e-164; MEOW:ATgn0000073 (68%) |species == rice; score == 563; expect == 8e-161; MEOW:gnl|TIGR|8357.m01758 (69%) |species == Yeast; gene == ENO1; score == 549; expect == 1e-156; MEOW:SGgn0003486 (63%) |species == Yeast; gene == ENO2; score == 535; expect == 5e-153; MEOW:SGgn0001217 (62%) |species == Yeast; gene == ERR1; score == 523; expect == 8e-149; MEOW:SGgn0005920 (59%) |species == Yeast; gene == ERR2; score == 523; expect == 8e-149; MEOW:SGgn0006202 (59%) |species == Yeast; gene == YMR323W; score == 522; expect == 1e-148; MEOW:SGgn0004942 (59%) |species == rice; score == 503; expect == 8e-143; MEOW:gnl|TIGR|8362.m03556 (64%) |species == ecoli; score == 421; expect == 5e-119; MEOW:ref|NP_417259.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0002028 CHR 1 4 DID 1 LocusLink:2028 MAP 1 4q25 NAM 1 glutamyl aminopeptidase (aminopeptidase A) ORG 1 Homo sapiens SYM 1 ENPEP ID|HUgn0002028 DID|LocusLink:2028 ORG|Homo sapiens RSQ|REFSEQ:NM_001977 RPA|REFPROT:NP_001968 DBA|XM:NM_001977 |NA:BX641012 |NA:L12468 |NA:L14721 |NA:none PAC|XP:NP_001968 SYM|ENPEP NAM|glutamyl aminopeptidase (aminopeptidase A) SYN|APA |gp160 FNC|glutamyl aminopeptidase (aminopeptidase A) |proteolysis and peptidolysis ; GO:0006508 |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435765 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2028[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138283 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001977 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001977 DBL|UNIGENE:Hs.435765 |OMIM:138297 |SNP:2028 ENZ|EC:3.4.11.7 |glutamyl aminopeptidase activity ; GO:0004230 |metallopeptidase activity ; GO:0008237 |zinc ion binding ; GO:0008270 |membrane alanyl aminopeptidase activity ; GO:0004179 |hydrolase activity ; GO:0016787 MAP|4q25 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Enpep; score == 1505; expect == 0.0; MEOW:MGgn0003897 (77%) |species == Mosquito; score == 672; expect == 0.0; MEOW:AGgn0020286 (41%) |species == Fruitfly; gene == CG8773; score == 627; expect == 7e-180; MEOW:FBgn0038135 (37%) |species == Fruitfly; gene == CG32473; score == 624; expect == 5e-179; MEOW:FBgn0052473 (40%) |species == Fruitfly; gene == CG8774; score == 610; expect == 7e-175; MEOW:FBgn0038136 (39%) |species == Human; gene == ANPEP; score == 565; expect == 4e-161; MEOW:HUgn0000290 (35%) |species == rat; score == 546; expect == 3e-155; MEOW:ref|NP_112274.1| (34%) |species == Human; gene == LRAP; score == 539; expect == 3e-153; MEOW:HUgn0064167 (34%) |species == Human; gene == ARTS-1; score == 517; expect == 1e-146; MEOW:HUgn0051752 (33%) |species == Human; gene == TRHDE; score == 501; expect == 6e-142; MEOW:HUgn0029953 (33%) |species == Weed; gene == At4g33090; score == 495; expect == 6e-140; MEOW:ATgn0018022 (35%) |species == rice; score == 490; expect == 4e-138; MEOW:gnl|TIGR|8351.m01093 (35%) |species == rat; score == 487; expect == 2e-137; MEOW:ref|XP_340890.1| (34%) |species == Human; gene == NPEPPS; score == 483; expect == 2e-136; MEOW:HUgn0009520 (34%) |species == rat; score == 481; expect == 1e-135; MEOW:ref|XP_346609.1| (32%) |species == rat; score == 481; expect == 1e-135; MEOW:ref|XP_347365.1| (32%) |species == Human; gene == LNPEP; score == 473; expect == 2e-133; MEOW:HUgn0004012 (32%) |species == Yeast; gene == APE2; score == 453; expect == 5e-128; MEOW:SGgn0001640 (33%) |species == Yeast; gene == AAP1'; score == 447; expect == 4e-126; MEOW:SGgn0001089 (32%) |species == Worm; gene == T07F10.1; score == 413; expect == 2e-115; MEOW:CEgn0015724 (29%) } # EOR GENR { RETE|ID 1 HUgn0002029 CHR 1 1 DID 1 LocusLink:2029 MAP 1 1q21.3 NAM 1 endosulfine alpha ORG 1 Homo sapiens SYM 1 ENSA ID|HUgn0002029 DID|LocusLink:2029 ORG|Homo sapiens RSQ|REFSEQ:NM_004436 RPA|REFPROT:NP_004427 DBA|XM:NM_004436 |NA:AJ010966 |NA:AF157510 |NA:AK001981 |NA:BC000436 |NA:BC004461 |NA:X99906 PAC|XP:NP_004427 SYM|ENSA NAM|endosulfine alpha FNC|endosulfine alpha |transport ; GO:0006810 |response to nutrients ; GO:0007584 REAB|Sulfonylureas are a class of drugs commonly used in the management of noninsulin-dependent |diabetes mellitus. Their therapeutic action results primarily from their ability |to inhibit ATP-sensitive potassium channels in the beta cell plasma membrane and |thereby stimulate insulin release. The K(ATP) channel is an octameric complex of |two structurally unrelated types of subunits, Kir6.2 and the sulfonylurea receptor |(SUR). SUR, which belongs to a family of ATP-binding cassette transporter proteins, |acts as a receptor for many drugs and endows Kir6.2 with sensitivity, both to sulfonylureas |and to K+ channel openers. Two types of SUR have been cloned, with different pharmacologic |sensitivities: the beta cell K(ATP) channel is composed of Kir6.2 and SUR1, whereas |cardiac K(ATP) channels comprise Kir6.2 and SUR2A subunits. The existence of SUR1, |which binds sulfonylureas with a high affinity, and its interaction with Kir, which |argues for a physiologic regulatory role, suggested the existence of an endogenous |regulator of K(ATP) channel activity that interacts with the same site as these |drugs. This led to the purification of alpha- and beta-endosulfine, two peptides |that inhibit binding of sulfonylureas to their receptor in vitro. Alpha-endosulfine |was expressed in a wide range of tissues including muscle, brain, and endocrine |tissues. The recombinant protein inhibits binding of labeled glibenclamide to beta |cell membranes. It also inhibits cloned K(ATP) channel currents and thereby stimulates |insulin secretion. It was proposed that endosulfine is an endogenous regulator of |the K(ATP) channel, which has a key role in the control of insulin release and, |more generally, couples cell metabolism to electrical activity. CHR|1 PRD|alpha endosulfine URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511916 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2029[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864267 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004436 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004436 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511916 DBL|UNIGENE:Hs.511916 |OMIM:603061 |SNP:2029 MAP|1q21.3 ENZ|ion channel inhibitor activity ; GO:0008200 |receptor binding ; GO:0005102 HG|species == Mouse; gene == Ensa; score == 212; expect == 2.2e-56; MEOW:MGgn0014654 (98%) |species == rat; score == 212; expect == 2.1e-56; MEOW:ref|NP_068614.1| (98%) |species == Human; gene == ARPP-19; score == 165; expect == 3.8e-42; MEOW:HUgn0010776 (81%) |species == Human; gene == LOC377336; score == 155; expect == 3.0e-39; MEOW:HUgn0377336 (66%) |species == Human; gene == LOC129521; score == 148; expect == 2.6e-36; MEOW:HUgn0129521 (79%) |species == Human; gene == LOC376992; score == 144; expect == 1.6e-35; MEOW:HUgn0376992 (70%) } # EOR GENR { RETE|ID 1 HUgn0002030 CHR 1 6 DID 1 LocusLink:2030 MAP 1 6p21.1-p21.2 NAM 1 solute carrier family 29 (nucleoside transporters), member 1 ORG 1 Homo sapiens SYM 1 SLC29A1 ID|HUgn0002030 DID|LocusLink:2030 ORG|Homo sapiens RSQ|REFSEQ:NM_004955 RPA|REFPROT:NP_004946 DBA|XM:NM_004955 |NA:AF079117 |NA:AK090491 |NA:AK090615 |NA:BC001382 |NA:BC008954 |NA:U81375 |NA:none PAC|XP:NP_004946 SYM|SLC29A1 NAM|solute carrier family 29 (nucleoside transporters), member 1 SYN|ENT1 FNC|solute carrier family 29 (nucleoside transporters), member 1 |nucleoside transport ; GO:0015858 |transport ; GO:0006810 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=25450 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2030[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6185982 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004955 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004955 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=25450 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA154 DBL|UNIGENE:Hs.25450 |OMIM:602193 |SNP:2030 MAP|6p21.1-p21.2 ENZ|nucleoside transporter activity ; GO:0005337 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Slc29a1; score == 687; expect == 0.0; MEOW:MGgn0014982 (78%) |species == rat; score == 659; expect == 0.0; MEOW:ref|NP_113872.1| (78%) |species == Human; gene == SLC29A2; score == 338; expect == 3.7e-93; MEOW:HUgn0003177 (46%) |species == Mosquito; gene == LOC10645; score == 255; expect == 3.5e-68; MEOW:AGgn0010645 (35%) |species == Fruitfly; gene == Ent2; score == 201; expect == 7.0e-52; MEOW:FBgn0026585 (30%) |species == Fruitfly; gene == Ent1; score == 190; expect == 1.3e-48; MEOW:FBgn0031250 (31%) |species == Worm; gene == ent-1; score == 166; expect == 1.8e-41; MEOW:CEgn0021201 (26%) |species == Worm; gene == K09A9.3; score == 159; expect == 2.3e-39; MEOW:CEgn0013600 (26%) |species == Worm; gene == K02E11.1; score == 148; expect == 1.0e-35; MEOW:CEgn0013044 (26%) } # EOR GENR { RETE|ID 1 HUgn0002031 CHR 1 13 DID 1 LocusLink:2031 MAP 1 13q13-q14.3 NAM 1 enuresis, nocturnal 1 ORG 1 Homo sapiens SYM 1 ENUR1 ID|HUgn0002031 DID|LocusLink:2031 ORG|Homo sapiens SYM|ENUR1 NAM|enuresis, nocturnal 1 CHR|13 DBL|OMIM:600631 MAP|13q13-q14.3 PHP|Enuresis, nocturnal, 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:594516 } # EOR GENR { RETE|ID 1 HUgn0002032 CHR 1 12 DID 1 LocusLink:2032 MAP 1 12q13-q21 NAM 1 enuresis, nocturnal 2 ORG 1 Homo sapiens SYM 1 ENUR2 ID|HUgn0002032 DID|LocusLink:2032 ORG|Homo sapiens SYM|ENUR2 NAM|enuresis, nocturnal 2 CHR|12 DBL|OMIM:600808 MAP|12q13-q21 PHP|Enuresis, nocturnal, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:666422 } # EOR GENR { RETE|ID 1 HUgn0002033 CHR 1 22 DID 1 LocusLink:2033 MAP 1 22q13.2 NAM 1 E1A binding protein p300 ORG 1 Homo sapiens SYM 1 EP300 ID|HUgn0002033 DID|LocusLink:2033 ORG|Homo sapiens RSQ|REFSEQ:NM_001429 RPA|REFPROT:NP_001420 DBA|XM:NM_001429 |NA:BC053889 |NA:U01877 |NA:none PAC|XP:NP_001420 SYM|EP300 NAM|E1A binding protein p300 SYN|p300 FNC|E1A binding protein p300 |cell cycle ; GO:0007049 |regulation of transcription, DNA-dependent ; GO:0006355 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |transcription from Pol II promoter ; GO:0006366 REAB|EP300 encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator |protein. p300 is related by sequence to CPB (CREB-binding protein [CREB: cyclic-AMP |responsive element binding protein]), and like CPB can stimulate transcription through |activation of CREB. This EP300 activity is specifically inhibited by the adenovirus |oncoprotein E1A. EP300 has also been identified as a co-activator of HIF1A (hypoxia-inducible |factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes |such as VEGF. CHR|22 PRD|E1A-binding protein, 300kD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=271730 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2033[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862958 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001429 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001429 |http://www.ncbi.nlm.nih.gov/disease/Colon.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27807 DBL|UNIGENE:Hs.271730 |OMIM:602700 |SNP:2033 MAP|22q13.2 PHP|Colorectal cancer ENZ|histone acetyltransferase activity ; GO:0004402 |protein C-terminus binding ; GO:0008022 |zinc ion binding ; GO:0008270 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 |transferase activity ; GO:0016740 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Crebbp; score == 1989; expect == 0.0; MEOW:MGgn0001631 (60%) |species == Human; gene == CREBBP; score == 1421; expect == 0.0; MEOW:HUgn0001387 (79%) |species == Mosquito; score == 1140; expect == 0.0; MEOW:AGgn0004748 (70%) |species == Mosquito; score == 1140; expect == 0.0; MEOW:AGgn0025904 (70%) |species == Fruitfly; gene == nej; score == 1086; expect == 0.0; MEOW:FBgn0015624 (59%) |species == Worm; gene == cbp-1; score == 848; expect == 0.0; MEOW:CEgn0000134 (45%) |species == rat; score == 592; expect == 9e-169; MEOW:ref|NP_596894.1| (92%) |species == Weed; gene == At1g79000; score == 389; expect == 8e-108; MEOW:ATgn0005121 (30%) |species == Weed; gene == At1g16710; score == 349; expect == 7.0e-96; MEOW:ATgn0005002 (33%) |species == rice; score == 268; expect == 1.5e-71; MEOW:gnl|TIGR|8351.m00350 (39%) |species == rice; score == 229; expect == 2.6e-59; MEOW:gnl|TIGR|8354.m04600 (43%) |species == rice; score == 224; expect == 8.3e-58; MEOW:gnl|TIGR|8350.m01343 (38%) } # EOR GENR { RETE|ID 1 HUgn0002034 CHR 1 2 DID 1 LocusLink:2034 MAP 1 2p21-p16 NAM 1 endothelial PAS domain protein 1 ORG 1 Homo sapiens SYM 1 EPAS1 ID|HUgn0002034 DID|LocusLink:2034 ORG|Homo sapiens RSQ|REFSEQ:NM_001430 RPA|REFPROT:NP_001421 DBA|XM:NM_001430 |NA:BC015869 |NA:BC051338 |NA:U51626 |NA:U81984 |NA:none PAC|XP:NP_001421 SYM|EPAS1 NAM|endothelial PAS domain protein 1 SYN|MOP2 |HIF2A FNC|endothelial PAS domain protein 1 CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=8136 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2034[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838012 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001430 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001430 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=8136 DBL|UNIGENE:Hs.8136 |OMIM:603349 |SNP:2034 MAP|2p21-p16 HG|species == Mouse; gene == Epas1; score == 1439; expect == 0.0; MEOW:MGgn0003908 (86%) |species == rat; score == 1419; expect == 0.0; MEOW:ref|NP_075578.1| (85%) |species == Human; gene == HIF1A; score == 570; expect == 1e-162; MEOW:HUgn0003091 (44%) |species == Fruitfly; gene == sima; score == 273; expect == 4.3e-73; MEOW:FBgn0015542 (39%) |species == Mosquito; score == 234; expect == 4.4e-62; MEOW:AGgn0011017 (37%) |species == Zfish; gene == sim2; score == 233; expect == 2.2e-61; MEOW:ZFgn0002314 (36%) |species == Zfish; gene == sim1; score == 230; expect == 1.9e-60; MEOW:ZFgn0002627 (34%) |species == Mosquito; gene == LOC17527; score == 219; expect == 2.5e-57; MEOW:AGgn0017527 (35%) |species == Mosquito; score == 216; expect == 1.6e-56; MEOW:AGgn0018607 (33%) |species == Mosquito; score == 212; expect == 2.5e-55; MEOW:AGgn0017357 (34%) } # EOR GENR { RETE|ID 1 HUgn0002035 CHR 1 1 DID 1 LocusLink:2035 MAP 1 1p33-p32 NAM 1 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) ORG 1 Homo sapiens SYM 1 EPB41 ID|HUgn0002035 DID|LocusLink:2035 ORG|Homo sapiens RSQ|REFSEQ:NM_004437 RPA|REFPROT:NP_004428 DBA|XM:NM_004437 |NA:AF156225 |NA:AL833483 |NA:BC009063 |NA:BC033289 |NA:BC039079 |NA:J03796 |NA:M14993 |NA:M61733 |NA:none PAC|XP:NP_004428 SYM|EPB41 NAM|erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) SYN|HE |EL1 |4.1R FNC|erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) |circulation ; GO:0008015 REAB|Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes |and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis |results from mutation in any one of several genes encoding proteins of the red cell |membrane skeleton. The form discussed here is the one found in the 1950s to be linked |to Rh blood group and more recently shown to be caused by a defect in protein 4.1. |'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin |gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM |109270).[supplied by OMIM] CHR|1 PRD|erythrocyte surface protein band 4.1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458444 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2035[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119865 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004437 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004437 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=458444 DBL|UNIGENE:Hs.458444 |OMIM:130500 |SNP:2035 |UWCM:119865.html MAP|1p33-p32 PHP|Elliptocytosis-1 ENZ|actin binding ; GO:0003779 |structural constituent of cytoskeleton ; GO:0005200 CEL|spectrin ; GO:0008091 |cytoskeleton ; GO:0005856 |plasma membrane ; GO:0005886 HG|species == rat; score == 855; expect == 0.0; MEOW:ref|XP_232771.2| (90%) |species == Human; gene == EPB41L2; score == 619; expect == 1e-177; MEOW:HUgn0002037 (59%) |species == Mouse; gene == Epb4.1l2; score == 602; expect == 2e-172; MEOW:MGgn0003911 (64%) |species == Mouse; gene == Epb4.1l3; score == 573; expect == 5e-164; MEOW:MGgn0003912 (58%) |species == Human; gene == EPB41L3; score == 565; expect == 3e-161; MEOW:HUgn0023136 (62%) |species == Human; gene == EPB41L1; score == 531; expect == 6e-151; MEOW:HUgn0002036 (59%) |species == Mouse; gene == Epb4.1l1; score == 531; expect == 5e-151; MEOW:MGgn0003910 (60%) |species == Mosquito; gene == LOC9134; score == 432; expect == 1e-121; MEOW:AGgn0009134 (62%) |species == Fruitfly; gene == cora; score == 415; expect == 2e-116; MEOW:FBgn0010434 (55%) |species == Zfish; gene == epb41; score == 399; expect == 1e-112; MEOW:ZFgn0002675 (58%) |species == Worm; gene == frm-3; score == 238; expect == 1.1e-62; MEOW:CEgn0012641 (39%) |species == Worm; gene == frm-2; score == 230; expect == 1.3e-60; MEOW:CEgn0015359 (37%) } # EOR GENR { RETE|ID 1 HUgn0002036 CHR 1 20 DID 1 LocusLink:2036 MAP 1 20q11.2-q12 NAM 1 erythrocyte membrane protein band 4.1-like 1 ORG 1 Homo sapiens SYM 1 EPB41L1 ID|HUgn0002036 DID|LocusLink:2036 ORG|Homo sapiens RSQ|REFSEQ:NM_012156 |REFSEQ:NM_177996 RPA|REFPROT:NP_036288 |REFPROT:NP_818932 DBA|XM:NM_012156 |XM:NM_177996 |NA:AL121895 |NA:AB002336 |NA:AK096848 |NA:AK126875 |NA:AY049789 |NA:BC013885 |NA:BC040259 |NA:BI457725 |NA:BX537978 |NA:none PAC|XP:NP_036288 |XP:NP_818932 SYM|EPB41L1 NAM|erythrocyte membrane protein band 4.1-like 1 SYN|4.1N |KIAA0338 |MGC11072 FNC|erythrocyte membrane protein band 4.1-like 1 isoform a |erythrocyte membrane protein band 4.1-like 1 isoform b REAB|Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates |interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. |The protein encoded by this gene is a neuronally-enriched protein that is structurally |similar to EPB41. The encoded protein binds and stabilizes D2 and D3 dopamine receptors |at the neuronal plasma membrane. Multiple transcript variants encoding different |isoforms have been found for this gene, but the full-length nature of only two of |them has been determined. CHR|20 PRD|neuronal protein 4.1 |neuron-type nonerythroid protein 4.1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437422 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2036[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9675836 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012156 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012156 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437422 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0338 DBL|UNIGENE:Hs.437422 |OMIM:602879 |SNP:2036 MAP|20q11.2-q12 HG|species == Mouse; gene == Epb4.1l1; score == 1534; expect == 0.0; MEOW:MGgn0003910 (95%) |species == rat; score == 1532; expect == 0.0; MEOW:ref|NP_742087.1| (95%) |species == Human; gene == EPB41L2; score == 659; expect == 0.0; MEOW:HUgn0002037 (47%) |species == Human; gene == EPB41L3; score == 613; expect == 2e-175; MEOW:HUgn0023136 (65%) |species == Human; gene == EPB41; score == 531; expect == 6e-151; MEOW:HUgn0002035 (59%) |species == Mosquito; gene == LOC9134; score == 465; expect == 3e-131; MEOW:AGgn0009134 (56%) |species == Fruitfly; gene == cora; score == 453; expect == 1e-127; MEOW:FBgn0010434 (52%) |species == Zfish; gene == epb41; score == 366; expect == 1e-102; MEOW:ZFgn0002675 (51%) |species == Zfish; gene == ptpn4; score == 300; expect == 1.6e-82; MEOW:ZFgn0013152 (46%) |species == Worm; gene == frm-3; score == 257; expect == 1.6e-68; MEOW:CEgn0012641 (35%) |species == Worm; gene == frm-2; score == 221; expect == 8.6e-58; MEOW:CEgn0015359 (35%) } # EOR GENR { RETE|ID 1 HUgn0002037 CHR 1 6 DID 1 LocusLink:2037 MAP 1 6q23 NAM 1 erythrocyte membrane protein band 4.1-like 2 ORG 1 Homo sapiens SYM 1 EPB41L2 ID|HUgn0002037 DID|LocusLink:2037 ORG|Homo sapiens RSQ|REFSEQ:NM_001431 RPA|REFPROT:NP_001422 DBA|XM:NM_001431 |NA:AF027299 |NA:AF054999 |NA:AJ251209 |NA:AL050384 |NA:AY047584 |NA:BC034718 PAC|XP:NP_001422 SYM|EPB41L2 NAM|erythrocyte membrane protein band 4.1-like 2 SYN|4.1-G FNC|erythrocyte membrane protein band 4.1-like 2 |cell shape and cell size control ; GO:0007148 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440387 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2037[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848614 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001431 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001431 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440387 DBL|UNIGENE:Hs.440387 |OMIM:603237 |SNP:2037 MAP|6q23 PHP|Similar to protein 4.1 (EPB41), which stabilizes spectrin-actin interactions and is associated with hereditary elliptocytosis ENZ|structural constituent of cytoskeleton ; GO:0005200 CEL|spectrin ; GO:0008091 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Epb4.1l2; score == 1457; expect == 0.0; MEOW:MGgn0003911 (81%) |species == rat; score == 740; expect == 0.0; MEOW:ref|XP_232771.2| (48%) |species == rat; score == 664; expect == 0.0; MEOW:ref|NP_742087.1| (47%) |species == Human; gene == EPB41L1; score == 659; expect == 0.0; MEOW:HUgn0002036 (47%) |species == Human; gene == EPB41; score == 619; expect == 1e-177; MEOW:HUgn0002035 (59%) |species == Human; gene == EPB41L3; score == 599; expect == 3e-171; MEOW:HUgn0023136 (65%) |species == Mosquito; gene == LOC9134; score == 423; expect == 2e-118; MEOW:AGgn0009134 (61%) |species == Fruitfly; gene == cora; score == 418; expect == 1e-116; MEOW:FBgn0010434 (58%) |species == Zfish; gene == epb41; score == 367; expect == 4e-101; MEOW:ZFgn0002675 (55%) |species == Zfish; gene == ptpn4; score == 295; expect == 8.1e-80; MEOW:ZFgn0013152 (46%) |species == Worm; gene == frm-3; score == 233; expect == 2.8e-61; MEOW:CEgn0012641 (40%) |species == Worm; gene == frm-2; score == 233; expect == 1.7e-61; MEOW:CEgn0015359 (37%) } # EOR GENR { RETE|ID 1 HUgn0002038 CHR 1 15 DID 1 LocusLink:2038 MAP 1 15q15-q21 NAM 1 erythrocyte membrane protein band 4.2 ORG 1 Homo sapiens SYM 1 EPB42 ID|HUgn0002038 DID|LocusLink:2038 ORG|Homo sapiens RSQ|REFSEQ:NM_000119 RPA|REFPROT:NP_000110 DBA|XM:NM_000119 |NA:AF206511 |NA:AF206512 |NA:L06519 |NA:M29399 |NA:M30646 |NA:M30647 |NA:M60298 |NA:none PAC|XP:NP_000110 SYM|EPB42 NAM|erythrocyte membrane protein band 4.2 SYN|PA FNC|erythrocyte membrane protein band 4.2 |peptide cross-linking ; GO:0018149 REAB|Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate |the association of protein 3 with ankyrin. It probably has a role in erythrocyte |shape and mechanical property regulation. Mutations in the EPB42 gene are associated |with recessive spherocytic elliptocytosis and recessively transmitted hereditary |hemolytic anemia. CHR|15 PRD|Erythrocyte surface protein band 4.2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=368642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2038[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127385 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000119 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000119 DBL|UNIGENE:Hs.368642 |OMIM:177070 |SNP:2038 |UWCM:127385.html MAP|15q15-q21 PHP|Spherocytosis, hereditary, Japanese type ENZ|ATP binding ; GO:0005524 |structural constituent of cytoskeleton ; GO:0005200 CEL|cytoskeleton ; GO:0005856 |plasma membrane ; GO:0005886 HG|species == rat; score == 1015; expect == 0.0; MEOW:ref|XP_342504.1| (72%) |species == Mouse; gene == Epb4.2; score == 989; expect == 0.0; MEOW:MGgn0003917 (72%) |species == Human; gene == TGM7; score == 367; expect == 1e-101; MEOW:HUgn0116179 (33%) |species == Human; gene == TGM2; score == 363; expect == 2e-100; MEOW:HUgn0007052 (32%) |species == Human; gene == TGM3; score == 325; expect == 5.5e-89; MEOW:HUgn0007053 (30%) |species == Human; gene == TGM5; score == 301; expect == 9.7e-82; MEOW:HUgn0009333 (32%) |species == Human; gene == LOC343641; score == 297; expect == 2.2e-80; MEOW:HUgn0343641 (28%) |species == Mosquito; gene == LOC15956; score == 245; expect == 7.4e-65; MEOW:AGgn0015956 (28%) |species == Fruitfly; gene == CG7356; score == 221; expect == 1.2e-57; MEOW:FBgn0031975 (26%) |species == Mosquito; gene == LOC16504; score == 196; expect == 4.0e-50; MEOW:AGgn0016504 (26%) } # EOR GENR { RETE|ID 1 HUgn0002039 CHR 1 8 DID 1 LocusLink:2039 MAP 1 8p21.1 NAM 1 erythrocyte membrane protein band 4.9 (dematin) ORG 1 Homo sapiens SYM 1 EPB49 ID|HUgn0002039 DID|LocusLink:2039 ORG|Homo sapiens RSQ|REFSEQ:NM_001978 RPA|REFPROT:NP_001969 DBA|XM:NM_001978 |NA:AK055842 |NA:AK091581 |NA:BC006318 |NA:BC017445 |NA:BC052805 |NA:BT007396 |NA:L19713 |NA:U28389 |NA:none PAC|XP:NP_001969 SYM|EPB49 NAM|erythrocyte membrane protein band 4.9 (dematin) SYN|DMT |DEMATIN FNC|erythrocyte membrane protein band 4.9 (dematin) |cytoskeleton organization and biogenesis ; GO:0007010 CHR|8 PRD|Erythrocyte membrane protein band 49 (dematin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274122 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2039[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642103 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001978 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001978 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=274122 DBL|UNIGENE:Hs.274122 |OMIM:125305 |SNP:2039 MAP|8p21.1 ENZ|actin bundling activity ; GO:0003781 CEL|actin cytoskeleton ; GO:0015629 |plasma membrane ; GO:0005886 HG|species == rat; score == 586; expect == 9e-168; MEOW:ref|XP_341353.1| (91%) |species == Mouse; gene == Epb4.9; score == 574; expect == 2e-164; MEOW:MGgn0003918 (90%) |species == Human; gene == ABLIM1; score == 246; expect == 2.7e-65; MEOW:HUgn0003983 (40%) } # EOR GENR { RETE|ID 1 HUgn0002040 CHR 1 9 DID 1 LocusLink:2040 MAP 1 9q34.1 NAM 1 stomatin ORG 1 Homo sapiens SYM 1 STOM ID|HUgn0002040 DID|LocusLink:2040 ORG|Homo sapiens RSQ|REFSEQ:NM_004099 |REFSEQ:NM_198194 RPA|REFPROT:NP_004090 |REFPROT:NP_937837 DBA|XM:NM_004099 |NA:X85116 |NA:AL040491 |NA:AU137947 |NA:BC010703 |NA:BI763647 |NA:BM451470 |NA:BM925356 |NA:CA447945 |NA:M81635 |NA:X60067 |NA:none PAC|XP:NP_004090 SYM|STOM NAM|stomatin SYN|BND7 |EPB7 |EPB72 FNC|stomatin isoform a |stomatin isoform b CHR|9 PRD|erythrocyte membrane protein band 7.2 (stomatin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439776 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2040[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128993 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004099 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004099 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439776 DBL|UNIGENE:Hs.439776 |OMIM:133090 |SNP:2040 MAP|9q34.1 HG|species == rat; score == 469; expect == 8e-133; MEOW:ref|XP_216045.2| (88%) |species == Mouse; gene == Epb7.2; score == 463; expect == 5e-131; MEOW:MGgn0003919 (87%) |species == Human; gene == STOML3; score == 352; expect == 1.3e-97; MEOW:HUgn0161003 (67%) |species == Worm; gene == mec-2; score == 339; expect == 1.1e-93; MEOW:CEgn0001932 (68%) |species == Mosquito; gene == LOC1172; score == 335; expect == 9.6e-93; MEOW:AGgn0001172 (66%) |species == Fruitfly; gene == CG32245; score == 334; expect == 2.2e-92; MEOW:FBgn0052245 (66%) |species == Worm; gene == sto-2; score == 324; expect == 2.7e-89; MEOW:CEgn0002724 (69%) |species == Mosquito; score == 317; expect == 2.7e-87; MEOW:AGgn0000956 (64%) |species == Mosquito; gene == LOC24399; score == 317; expect == 2.7e-87; MEOW:AGgn0024399 (64%) |species == Fruitfly; gene == CG7635; score == 312; expect == 6.9e-86; MEOW:FBgn0030993 (62%) |species == Fruitfly; gene == CG7633; score == 309; expect == 5.8e-85; MEOW:FBgn0030992 (62%) |species == Worm; gene == unc-1; score == 281; expect == 2.6e-76; MEOW:CEgn0002887 (59%) |species == Worm; gene == sto-5; score == 278; expect == 2.2e-75; MEOW:CEgn0002727 (57%) |species == Worm; gene == sto-1; score == 277; expect == 3.8e-75; MEOW:CEgn0002723 (54%) } # EOR GENR { RETE|ID 1 HUgn0002041 CHR 1 7 DID 1 LocusLink:2041 MAP 1 7q34 NAM 1 EphA1 ORG 1 Homo sapiens SYM 1 EPHA1 ID|HUgn0002041 DID|LocusLink:2041 ORG|Homo sapiens RSQ|REFSEQ:NM_005232 RPA|REFPROT:NP_005223 DBA|XM:NM_005232 |XM:NM_005232 |NA:AF101171 |NA:AA723562 |NA:AU131228 |NA:M18391 |NA:Z27409 |NA:none PAC|XP:NP_005223 |XP:NP_005223 SYM|EPHA1 NAM|EphA1 SYN|EPH |EPHT |EPHT1 FNC|ephrin receptor EphA1 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human |cancer cell lines and has been implicated in carcinogenesis. CHR|7 PRD|oncogene EPH |eph tyrosine kinase 1 |ephrin type-A receptor 1 |tyrosine-protein kinase receptor EPH |erythropoietin-producing hepatoma amplified sequence URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89839 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2041[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119875 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005232 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005232 DBL|UNIGENE:Hs.89839 |OMIM:179610 |SNP:2041 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|7q34 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Epha1; score == 1574; expect == 0.0; MEOW:MGgn0003924 (83%) |species == rat; score == 1565; expect == 0.0; MEOW:ref|XP_231658.2| (83%) |species == Human; gene == EPHA2; score == 865; expect == 0.0; MEOW:HUgn0001969 (48%) |species == Human; gene == EPHA5; score == 753; expect == 0.0; MEOW:HUgn0002044 (42%) |species == Human; gene == EPHA4; score == 746; expect == 0.0; MEOW:HUgn0002043 (44%) |species == Zfish; gene == rtk4; score == 672; expect == 0.0; MEOW:ZFgn0000378 (42%) |species == Mosquito; score == 534; expect == 6e-152; MEOW:AGgn0007421 (35%) |species == Fruitfly; gene == Eph; score == 328; expect == 5.4e-90; MEOW:FBgn0025936 (50%) |species == Worm; gene == vab-1; score == 266; expect == 2.3e-71; MEOW:CEgn0003021 (45%) |species == Worm; gene == src-2; score == 214; expect == 1.0e-55; MEOW:CEgn0026958 (44%) |species == chimp; score == 167; expect == 4.7e-43; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 140; expect == 3.6e-33; MEOW:ATgn0017130 (32%) |species == rice; score == 139; expect == 1.3e-32; MEOW:gnl|TIGR|8357.m03093 (32%) |species == Weed; gene == At4g31170; score == 138; expect == 1.4e-32; MEOW:ATgn0018674 (32%) |species == Weed; gene == At2g24360; score == 133; expect == 4.4e-31; MEOW:ATgn0008622 (31%) |species == Weed; gene == At2g17700; score == 133; expect == 5.7e-31; MEOW:ATgn0028393 (30%) } # EOR GENR { RETE|ID 1 HUgn0002042 CHR 1 3 DID 1 LocusLink:2042 MAP 1 3p11.2 NAM 1 EphA3 ORG 1 Homo sapiens SYM 1 EPHA3 ID|HUgn0002042 DID|LocusLink:2042 ORG|Homo sapiens RSQ|REFSEQ:NM_005233 |REFSEQ:NM_182644 RPA|REFPROT:NP_005224 |REFPROT:NP_872585 DBA|XM:NM_005233 |XM:NM_182644 |NA:AF213459 |NA:AF213460 |NA:AK024352 |NA:BC026247 |NA:M83941 |NA:none PAC|XP:NP_005224 |XP:NP_872585 SYM|EPHA3 NAM|EphA3 SYN|ETK |HEK |ETK1 |HEK4 |TYRO4 FNC|ephrin receptor EphA3 isoform a precursor |ephrin receptor EphA3 isoform b precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds |ephrin-A ligands. Two alternatively spliced transcript variants have been described |for this gene. CHR|3 PRD|human embryo kinase 1 |eph-like tyrosine kinase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2042[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141573 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005233 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005233 DBL|UNIGENE:Hs.123642 |OMIM:179611 |SNP:2042 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|3p11.2 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1845; expect == 0.0; MEOW:ref|XP_346415.1| (96%) |species == Mouse; gene == Epha3; score == 1840; expect == 0.0; MEOW:MGgn0003926 (96%) |species == Human; gene == EPHA5; score == 1375; expect == 0.0; MEOW:HUgn0002044 (66%) |species == Human; gene == EPHA7; score == 1271; expect == 0.0; MEOW:HUgn0002045 (63%) |species == Human; gene == EPHA4; score == 1263; expect == 0.0; MEOW:HUgn0002043 (64%) |species == Human; gene == EPHA8; score == 1130; expect == 0.0; MEOW:HUgn0002046 (56%) |species == Zfish; gene == rtk4; score == 1119; expect == 0.0; MEOW:ZFgn0000378 (60%) |species == Human; gene == EPHB2; score == 1109; expect == 0.0; MEOW:HUgn0002048 (57%) |species == Mosquito; score == 691; expect == 0.0; MEOW:AGgn0007421 (39%) |species == Fruitfly; gene == Eph; score == 686; expect == 0.0; MEOW:FBgn0025936 (40%) |species == Worm; gene == vab-1; score == 339; expect == 4.7e-93; MEOW:CEgn0003021 (52%) |species == chimp; score == 176; expect == 7.7e-46; MEOW:sp|BAC78172|BAC78172 (34%) |species == Weed; gene == At4g35780; score == 161; expect == 1.5e-39; MEOW:ATgn0017130 (34%) |species == Weed; gene == At2g17700; score == 149; expect == 5.9e-36; MEOW:ATgn0028393 (32%) |species == rice; score == 147; expect == 6.5e-35; MEOW:gnl|TIGR|8357.m03093 (32%) |species == rice; score == 140; expect == 1.0e-32; MEOW:gnl|TIGR|8359.m03563 (32%) |species == rice; score == 138; expect == 3.0e-32; MEOW:gnl|TIGR|8350.m00074 (33%) |species == Weed; gene == At4g38470; score == 137; expect == 3.0e-32; MEOW:ATgn0020261 (31%) |species == Weed; gene == At4g31170; score == 136; expect == 8.8e-32; MEOW:ATgn0018674 (31%) |species == rice; score == 136; expect == 1.1e-31; MEOW:gnl|TIGR|8355.m02702 (32%) |species == Weed; gene == At1g62400; score == 135; expect == 1.5e-31; MEOW:ATgn0006564 (32%) |species == rice; score == 134; expect == 4.3e-31; MEOW:gnl|TIGR|8352.m04814 (31%) |species == rice; score == 134; expect == 4.3e-31; MEOW:gnl|TIGR|8352.m05524 (30%) |species == Weed; gene == At2g42630; score == 132; expect == 7.5e-31; MEOW:ATgn0008219 (33%) |species == Weed; gene == At3g06640; score == 132; expect == 7.5e-31; MEOW:ATgn0016813 (30%) |species == Weed; gene == At5g49470; score == 132; expect == 7.5e-31; MEOW:ATgn0022825 (32%) } # EOR GENR { RETE|ID 1 HUgn0002043 CHR 1 2 DID 1 LocusLink:2043 MAP 1 2q36.1 NAM 1 EphA4 ORG 1 Homo sapiens SYM 1 EPHA4 ID|HUgn0002043 DID|LocusLink:2043 ORG|Homo sapiens RSQ|REFSEQ:NM_004438 RPA|REFPROT:NP_004429 DBA|XM:NM_004438 |NA:AL603465 |NA:BC026327 |NA:BM724253 |NA:L36645 |NA:none PAC|XP:NP_004429 SYM|EPHA4 NAM|EphA4 SYN|SEK |HEK8 |TYRO1 FNC|ephrin receptor EphA4 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. CHR|2 PRD|ephrin type-A receptor 4 |TYRO1 protein tyrosine kinase |tyrosine-protein kinase receptor SEK |receptor protein-tyrosine kinase HEK8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73964 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2043[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134761 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004438 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004438 DBL|UNIGENE:Hs.73964 |OMIM:602188 |SNP:2043 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|2q36.1 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Epha4; score == 1935; expect == 0.0; MEOW:MGgn0003927 (98%) |species == Zfish; gene == rtk4; score == 1389; expect == 0.0; MEOW:ZFgn0000378 (76%) |species == Human; gene == EPHA5; score == 1288; expect == 0.0; MEOW:HUgn0002044 (64%) |species == Human; gene == EPHA7; score == 1288; expect == 0.0; MEOW:HUgn0002045 (63%) |species == rat; score == 1284; expect == 0.0; MEOW:ref|NP_599158.1| (63%) |species == rat; score == 1267; expect == 0.0; MEOW:ref|XP_346415.1| (64%) |species == Human; gene == EPHA3; score == 1263; expect == 0.0; MEOW:HUgn0002042 (64%) |species == rat; score == 1249; expect == 0.0; MEOW:ref|XP_341202.1| (65%) |species == Human; gene == EPHB2; score == 1159; expect == 0.0; MEOW:HUgn0002048 (59%) |species == Human; gene == EPHA8; score == 1156; expect == 0.0; MEOW:HUgn0002046 (57%) |species == rat; score == 1151; expect == 0.0; MEOW:ref|XP_217250.1| (60%) |species == Human; gene == EPHB1; score == 1146; expect == 0.0; MEOW:HUgn0002047 (59%) |species == rat; score == 1131; expect == 0.0; MEOW:ref|XP_342953.1| (55%) |species == Human; gene == EPHB3; score == 1114; expect == 0.0; MEOW:HUgn0002049 (58%) |species == rat; score == 1078; expect == 0.0; MEOW:ref|XP_221311.2| (56%) |species == Mosquito; score == 713; expect == 0.0; MEOW:AGgn0007421 (41%) |species == Fruitfly; gene == Eph; score == 704; expect == 0.0; MEOW:FBgn0025936 (41%) |species == Worm; gene == vab-1; score == 334; expect == 1.5e-91; MEOW:CEgn0003021 (45%) |species == chimp; score == 173; expect == 8.6e-45; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 157; expect == 3.7e-38; MEOW:ATgn0017130 (34%) |species == rice; score == 149; expect == 1.3e-35; MEOW:gnl|TIGR|8357.m03093 (32%) |species == Weed; gene == At2g17700; score == 141; expect == 2.7e-33; MEOW:ATgn0028393 (31%) |species == rice; score == 140; expect == 7.9e-33; MEOW:gnl|TIGR|8355.m02702 (33%) |species == Weed; gene == At4g38470; score == 139; expect == 1.0e-32; MEOW:ATgn0020261 (30%) |species == rice; score == 135; expect == 2.5e-31; MEOW:gnl|TIGR|8352.m05524 (30%) |species == rice; score == 135; expect == 2.5e-31; MEOW:gnl|TIGR|8359.m03563 (34%) |species == Weed; gene == At4g31170; score == 133; expect == 4.4e-31; MEOW:ATgn0018674 (31%) } # EOR GENR { RETE|ID 1 HUgn0002044 CHR 1 4 DID 1 LocusLink:2044 MAP 1 4q13.2 NAM 1 EphA5 ORG 1 Homo sapiens SYM 1 EPHA5 ID|HUgn0002044 DID|LocusLink:2044 ORG|Homo sapiens RSQ|REFSEQ:NM_004439 |REFSEQ:NM_182472 RPA|REFPROT:NP_004430 |REFPROT:NP_872272 DBA|XM:NM_004439 |XM:NM_182472 |NA:BX537946 |NA:L36644 |NA:none PAC|XP:NP_004430 |XP:NP_872272 SYM|EPHA5 NAM|EphA5 SYN|CEK7 |EHK1 |HEK7 |TYRO4 FNC|ephrin receptor EphA5 isoform a |ephrin receptor EphA5 isoform b |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. CHR|4 PRD|Eph homology kinase-1 |ephrin type-A receptor 5 |receptor protein-tyrosine kinase HEK7 |tyrosine-protein kinase receptor EHK-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=201920 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2044[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134762 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7219569 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004439 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004439 DBL|UNIGENE:Hs.201920 |OMIM:600004 |SNP:2044 ENZ|EC:2.7.1.112 |transmembrane-ephrin receptor activity ; GO:0005005 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|4q13.2 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1843; expect == 0.0; MEOW:ref|XP_341202.1| (93%) |species == Mouse; gene == Epha3; score == 1382; expect == 0.0; MEOW:MGgn0003926 (66%) |species == Human; gene == EPHA3; score == 1375; expect == 0.0; MEOW:HUgn0002042 (66%) |species == Human; gene == EPHA7; score == 1295; expect == 0.0; MEOW:HUgn0002045 (63%) |species == Mouse; gene == Epha7; score == 1291; expect == 0.0; MEOW:MGgn0003930 (63%) |species == Human; gene == EPHA4; score == 1288; expect == 0.0; MEOW:HUgn0002043 (64%) |species == Mouse; gene == Epha4; score == 1280; expect == 0.0; MEOW:MGgn0003927 (64%) |species == Mouse; gene == Epha6; score == 1226; expect == 0.0; MEOW:MGgn0003929 (58%) |species == Human; gene == EPHA8; score == 1194; expect == 0.0; MEOW:HUgn0002046 (57%) |species == Mouse; gene == Epha8; score == 1170; expect == 0.0; MEOW:MGgn0003931 (56%) |species == Human; gene == EPHB2; score == 1149; expect == 0.0; MEOW:HUgn0002048 (57%) |species == Zfish; gene == rtk4; score == 1124; expect == 0.0; MEOW:ZFgn0000378 (61%) |species == Human; gene == EPHB1; score == 1114; expect == 0.0; MEOW:HUgn0002047 (56%) |species == Mouse; gene == Ephb1; score == 1114; expect == 0.0; MEOW:MGgn0003932 (57%) |species == Mosquito; score == 715; expect == 0.0; MEOW:AGgn0007421 (39%) |species == Fruitfly; gene == Eph; score == 695; expect == 0.0; MEOW:FBgn0025936 (41%) |species == Worm; gene == vab-1; score == 327; expect == 1.5e-89; MEOW:CEgn0003021 (44%) |species == chimp; score == 174; expect == 5.3e-45; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 157; expect == 3.0e-38; MEOW:ATgn0017130 (35%) |species == rice; score == 150; expect == 8.1e-36; MEOW:gnl|TIGR|8357.m03093 (33%) |species == Weed; gene == At2g17700; score == 141; expect == 2.9e-33; MEOW:ATgn0028393 (31%) |species == rice; score == 141; expect == 4.9e-33; MEOW:gnl|TIGR|8355.m02702 (34%) |species == rice; score == 138; expect == 4.2e-32; MEOW:gnl|TIGR|8352.m05524 (31%) |species == Weed; gene == At4g38470; score == 137; expect == 3.2e-32; MEOW:ATgn0020261 (33%) |species == rice; score == 136; expect == 1.6e-31; MEOW:gnl|TIGR|8350.m00074 (32%) |species == rice; score == 136; expect == 1.6e-31; MEOW:gnl|TIGR|8359.m03563 (35%) |species == Weed; gene == At1g67890; score == 135; expect == 1.2e-31; MEOW:ATgn0006424 (34%) |species == Weed; gene == At5g49470; score == 135; expect == 1.6e-31; MEOW:ATgn0022825 (35%) |species == rice; score == 134; expect == 6.0e-31; MEOW:gnl|TIGR|8352.m04814 (32%) |species == rice; score == 134; expect == 7.8e-31; MEOW:gnl|TIGR|8356.m01204 (31%) |species == Weed; gene == At1g62400; score == 133; expect == 4.6e-31; MEOW:ATgn0006564 (33%) |species == Weed; gene == At4g31170; score == 133; expect == 4.6e-31; MEOW:ATgn0018674 (35%) } # EOR GENR { RETE|ID 1 HUgn0002045 CHR 1 6 DID 1 LocusLink:2045 MAP 1 6q16.1 NAM 1 EphA7 ORG 1 Homo sapiens SYM 1 EPHA7 ID|HUgn0002045 DID|LocusLink:2045 ORG|Homo sapiens RSQ|REFSEQ:NM_004440 RPA|REFPROT:NP_004431 DBA|XM:NM_004440 |NA:AL699163 |NA:BC027940 |NA:BM677016 |NA:L36642 |NA:none PAC|XP:NP_004431 SYM|EPHA7 NAM|EphA7 SYN|EHK3 |HEK11 FNC|ephrin receptor EphA7 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. CHR|6 PRD|Eph homology kinase-3 |ephrin type-A receptor 7 |receptor protein-tyrosine kinase HEK11 |tyrosine-protein kinase receptor EHK-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73962 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2045[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9015265 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004440 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004440 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73962 DBL|UNIGENE:Hs.73962 |OMIM:602190 |SNP:2045 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|6q16.1 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1992; expect == 0.0; MEOW:ref|NP_599158.1| (98%) |species == Mouse; gene == Epha7; score == 1984; expect == 0.0; MEOW:MGgn0003930 (98%) |species == Human; gene == EPHA5; score == 1295; expect == 0.0; MEOW:HUgn0002044 (63%) |species == Human; gene == EPHA4; score == 1288; expect == 0.0; MEOW:HUgn0002043 (63%) |species == Human; gene == EPHA3; score == 1271; expect == 0.0; MEOW:HUgn0002042 (63%) |species == Human; gene == EPHA8; score == 1177; expect == 0.0; MEOW:HUgn0002046 (57%) |species == Human; gene == EPHB2; score == 1153; expect == 0.0; MEOW:HUgn0002048 (58%) |species == Zfish; gene == rtk4; score == 1124; expect == 0.0; MEOW:ZFgn0000378 (60%) |species == Human; gene == EPHB1; score == 1123; expect == 0.0; MEOW:HUgn0002047 (57%) |species == Human; gene == EPHB3; score == 1067; expect == 0.0; MEOW:HUgn0002049 (56%) |species == Zfish; gene == rtk8; score == 921; expect == 0.0; MEOW:ZFgn0000381 (48%) |species == Mosquito; score == 723; expect == 0.0; MEOW:AGgn0007421 (41%) |species == Fruitfly; gene == Eph; score == 709; expect == 0.0; MEOW:FBgn0025936 (41%) |species == Worm; gene == vab-1; score == 328; expect == 1.4e-89; MEOW:CEgn0003021 (50%) |species == chimp; score == 172; expect == 1.9e-44; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 157; expect == 3.8e-38; MEOW:ATgn0017130 (35%) |species == rice; score == 151; expect == 5.9e-36; MEOW:gnl|TIGR|8357.m03093 (33%) |species == rice; score == 146; expect == 1.1e-34; MEOW:gnl|TIGR|8355.m02702 (35%) |species == Weed; gene == At2g17700; score == 143; expect == 4.3e-34; MEOW:ATgn0028393 (30%) |species == Weed; gene == At4g38470; score == 134; expect == 3.4e-31; MEOW:ATgn0020261 (32%) } # EOR GENR { RETE|ID 1 HUgn0002046 CHR 1 1 DID 1 LocusLink:2046 MAP 1 1p36.11 NAM 1 EphA8 ORG 1 Homo sapiens SYM 1 EPHA8 ID|HUgn0002046 DID|LocusLink:2046 ORG|Homo sapiens RSQ|REFSEQ:NM_020526 RPA|REFPROT:NP_065387 DBA|XM:NM_020526 |NA:AL035703 |NA:X59291 |NA:AB040892 |NA:BC038796 |NA:none PAC|XP:NP_065387 SYM|EPHA8 NAM|EphA8 SYN|EEK |HEK3 |KIAA1459 FNC|ephrin receptor EphA8 precursor REAB|This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase |family. EPH and EPH-related receptors have been implicated in mediating developmental |events, particularly in the nervous system. Receptors in the EPH subfamily typically |have a single kinase domain and an extracellular region containing a Cys-rich domain |and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions |as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated |axonal guidance during development of the mammalian nervous system. CHR|1 PRD|tyrosylprotein kinase |protein-tyrosine kinase |hydroxyaryl-protein kinase |ephrin type-A receptor 8 precursor |eph- and elk-related tyrosine kinase |tyrosine-protein kinase receptor eek URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=283613 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2046[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125195 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020526 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020526 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=283613 DBL|UNIGENE:Hs.283613 |OMIM:176945 |SNP:2046 ENZ|EC:2.7.1.112 MAP|1p36.11 HG|species == Mouse; gene == Epha8; score == 1848; expect == 0.0; MEOW:MGgn0003931 (94%) |species == rat; score == 1800; expect == 0.0; MEOW:ref|XP_342953.1| (93%) |species == Human; gene == EPHA5; score == 1194; expect == 0.0; MEOW:HUgn0002044 (57%) |species == Human; gene == EPHA7; score == 1177; expect == 0.0; MEOW:HUgn0002045 (57%) |species == Human; gene == EPHA4; score == 1156; expect == 0.0; MEOW:HUgn0002043 (57%) |species == Human; gene == EPHA3; score == 1130; expect == 0.0; MEOW:HUgn0002042 (56%) |species == Human; gene == EPHB2; score == 1025; expect == 0.0; MEOW:HUgn0002048 (51%) |species == Zfish; gene == rtk4; score == 1025; expect == 0.0; MEOW:ZFgn0000378 (56%) |species == Human; gene == EPHB1; score == 1012; expect == 0.0; MEOW:HUgn0002047 (52%) |species == Human; gene == EPHB3; score == 971; expect == 0.0; MEOW:HUgn0002049 (51%) |species == Mosquito; score == 660; expect == 0.0; MEOW:AGgn0007421 (39%) |species == Fruitfly; gene == Eph; score == 649; expect == 0.0; MEOW:FBgn0025936 (39%) |species == Worm; gene == vab-1; score == 406; expect == 4e-113; MEOW:CEgn0003021 (32%) |species == chimp; score == 176; expect == 1.0e-45; MEOW:sp|BAC78172|BAC78172 (37%) |species == Weed; gene == At4g35780; score == 153; expect == 4.2e-37; MEOW:ATgn0017130 (35%) |species == rice; score == 146; expect == 1.9e-34; MEOW:gnl|TIGR|8357.m03093 (31%) |species == rice; score == 144; expect == 7.3e-34; MEOW:gnl|TIGR|8355.m02702 (34%) |species == Weed; gene == At2g17700; score == 142; expect == 7.4e-34; MEOW:ATgn0028393 (33%) |species == rice; score == 137; expect == 6.9e-32; MEOW:gnl|TIGR|8352.m05524 (31%) |species == rice; score == 133; expect == 9.9e-31; MEOW:gnl|TIGR|8350.m00074 (31%) } # EOR GENR { RETE|ID 1 HUgn0002047 CHR 1 3 DID 1 LocusLink:2047 MAP 1 3q21-q23 NAM 1 EphB1 ORG 1 Homo sapiens SYM 1 EPHB1 ID|HUgn0002047 DID|LocusLink:2047 ORG|Homo sapiens RSQ|REFSEQ:NM_004441 RPA|REFPROT:NP_004432 DBA|XM:NM_004441 |NA:AF037333 |NA:AF037334 |NA:L40636 |NA:none PAC|XP:NP_004432 SYM|EPHB1 NAM|EphB1 SYN|ELK |NET |Hek6 |EPHT2 FNC|ephrin receptor EphB1 precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 REAB|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, |particularly in the nervous system. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the |membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, |which are transmembrane proteins. The Eph family of receptors are divided into 2 |groups based on the similarity of their extracellular domain sequences and their |affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the |largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded |by this gene is a receptor for ephrin-B family members. CHR|3 PRD|eph tyrosine kinase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272311 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2047[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:511631 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004441 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004441 DBL|UNIGENE:Hs.272311 |OMIM:600600 |SNP:2047 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|3q21-q23 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ephb1; score == 1871; expect == 0.0; MEOW:MGgn0003932 (99%) |species == rat; score == 1869; expect == 0.0; MEOW:ref|XP_217250.1| (99%) |species == Human; gene == EPHB2; score == 1488; expect == 0.0; MEOW:HUgn0002048 (73%) |species == Human; gene == EPHB3; score == 1375; expect == 0.0; MEOW:HUgn0002049 (70%) |species == Zfish; gene == ephb4a; score == 1031; expect == 0.0; MEOW:ZFgn0000379 (55%) |species == Zfish; gene == rtk4; score == 1023; expect == 0.0; MEOW:ZFgn0000378 (57%) |species == Zfish; gene == rtk8; score == 1020; expect == 0.0; MEOW:ZFgn0000381 (55%) |species == Mosquito; score == 734; expect == 0.0; MEOW:AGgn0007421 (42%) |species == Fruitfly; gene == Eph; score == 722; expect == 0.0; MEOW:FBgn0025936 (42%) |species == Worm; gene == vab-1; score == 323; expect == 2.7e-88; MEOW:CEgn0003021 (43%) |species == chimp; score == 176; expect == 1.3e-45; MEOW:sp|BAC78172|BAC78172 (33%) |species == Weed; gene == At4g35780; score == 162; expect == 6.7e-40; MEOW:ATgn0017130 (33%) |species == rice; score == 158; expect == 3.7e-38; MEOW:gnl|TIGR|8357.m03093 (31%) |species == rice; score == 149; expect == 1.3e-35; MEOW:gnl|TIGR|8355.m02702 (34%) |species == Weed; gene == At2g17700; score == 145; expect == 1.1e-34; MEOW:ATgn0028393 (31%) |species == Weed; gene == At4g38470; score == 144; expect == 2.5e-34; MEOW:ATgn0020261 (32%) |species == rice; score == 142; expect == 2.1e-33; MEOW:gnl|TIGR|8352.m05524 (30%) |species == Weed; gene == At1g73660; score == 141; expect == 1.6e-33; MEOW:ATgn0006971 (34%) |species == rice; score == 141; expect == 3.5e-33; MEOW:gnl|TIGR|8351.m04858 (33%) |species == Weed; gene == At4g31170; score == 140; expect == 4.7e-33; MEOW:ATgn0018674 (32%) |species == rice; score == 140; expect == 1.0e-32; MEOW:gnl|TIGR|8359.m03563 (33%) |species == Weed; gene == At3g06640; score == 139; expect == 1.0e-32; MEOW:ATgn0016813 (34%) |species == rice; score == 139; expect == 1.3e-32; MEOW:gnl|TIGR|8352.m04835 (33%) |species == Weed; gene == At1g18160; score == 138; expect == 1.8e-32; MEOW:ATgn0006749 (32%) |species == rice; score == 137; expect == 8.7e-32; MEOW:gnl|TIGR|8350.m00074 (31%) |species == rice; score == 136; expect == 1.9e-31; MEOW:gnl|TIGR|8355.m04796 (33%) |species == rice; score == 136; expect == 1.9e-31; MEOW:gnl|TIGR|8359.m03841 (35%) |species == Weed; gene == At1g04700; score == 135; expect == 1.5e-31; MEOW:ATgn0005540 (35%) |species == Weed; gene == At5g49470; score == 135; expect == 1.5e-31; MEOW:ATgn0022825 (33%) |species == Weed; gene == At5g11850; score == 134; expect == 2.6e-31; MEOW:ATgn0025217 (32%) } # EOR GENR { RETE|ID 1 HUgn0002048 CHR 1 1 DID 1 LocusLink:2048 MAP 1 1p36.1-p35 NAM 1 EphB2 ORG 1 Homo sapiens SYM 1 EPHB2 ID|HUgn0002048 DID|LocusLink:2048 ORG|Homo sapiens RSQ|REFSEQ:NM_004442 |REFSEQ:NM_017449 RPA|REFPROT:NP_004433 |REFPROT:NP_059145 DBA|XM:NM_004442 |XM:NM_017449 |NA:AL035704 |NA:X59292 |NA:AF025304 |NA:BC007903 |NA:BC018763 |NA:BC041017 |NA:D14717 |NA:D31661 |NA:D37827 |NA:L36643 |NA:L41939 PAC|XP:NP_004433 |XP:NP_059145 SYM|EPHB2 NAM|EphB2 SYN|DRT |ERK |Hek5 |EPHT3 |Tyro5 FNC|ephrin receptor EphB2 isoform 1 precursor |ephrin receptor EphB2 isoform 2 precursor |oncogenesis ; GO:0007048 |signal transduction ; GO:0007165 REAB|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, |particularly in the nervous system. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. The Eph family of receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest |subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this |gene is a receptor for ephrin-B family members. CHR|1 PRD|eph tyrosine kinase 3 |elk-related tyrosine kinase |developmentally-regulated eph-related tyrosine kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=125124 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2048[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568681 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004442 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004442 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=125124 DBL|UNIGENE:Hs.125124 |OMIM:600997 |SNP:2048 ENZ|EC:2.7.1.112 |transmembrane receptor protein tyrosine kinase activity ; GO:0004714 MAP|1p36.1-p35 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1494; expect == 0.0; MEOW:ref|XP_217250.1| (74%) |species == Mouse; gene == Ephb1; score == 1492; expect == 0.0; MEOW:MGgn0003932 (74%) |species == Human; gene == EPHB1; score == 1488; expect == 0.0; MEOW:HUgn0002047 (73%) |species == Human; gene == EPHB3; score == 1375; expect == 0.0; MEOW:HUgn0002049 (70%) |species == Mouse; gene == Ephb3; score == 1373; expect == 0.0; MEOW:MGgn0003934 (70%) |species == rat; score == 1326; expect == 0.0; MEOW:ref|XP_221311.2| (67%) |species == Zfish; gene == ephb4a; score == 1029; expect == 0.0; MEOW:ZFgn0000379 (54%) |species == Zfish; gene == rtk4; score == 1026; expect == 0.0; MEOW:ZFgn0000378 (57%) |species == Zfish; gene == rtk8; score == 995; expect == 0.0; MEOW:ZFgn0000381 (53%) |species == Mosquito; score == 731; expect == 0.0; MEOW:AGgn0007421 (41%) |species == Fruitfly; gene == Eph; score == 721; expect == 0.0; MEOW:FBgn0025936 (42%) |species == Worm; gene == vab-1; score == 325; expect == 1.2e-88; MEOW:CEgn0003021 (50%) |species == chimp; score == 175; expect == 1.7e-45; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 159; expect == 7.5e-39; MEOW:ATgn0017130 (34%) |species == rice; score == 151; expect == 4.5e-36; MEOW:gnl|TIGR|8357.m03093 (31%) |species == rice; score == 148; expect == 2.9e-35; MEOW:gnl|TIGR|8355.m02702 (34%) |species == Weed; gene == At2g17700; score == 145; expect == 1.5e-34; MEOW:ATgn0028393 (31%) |species == Weed; gene == At4g38470; score == 140; expect == 3.6e-33; MEOW:ATgn0020261 (32%) |species == Weed; gene == At1g73660; score == 139; expect == 1.0e-32; MEOW:ATgn0006971 (32%) |species == rice; score == 138; expect == 3.0e-32; MEOW:gnl|TIGR|8359.m03563 (34%) |species == Weed; gene == At1g18160; score == 136; expect == 8.8e-32; MEOW:ATgn0006749 (32%) |species == rice; score == 136; expect == 1.5e-31; MEOW:gnl|TIGR|8350.m00074 (31%) |species == Weed; gene == At4g31170; score == 134; expect == 3.4e-31; MEOW:ATgn0018674 (31%) |species == rice; score == 134; expect == 7.4e-31; MEOW:gnl|TIGR|8351.m04858 (32%) |species == rice; score == 134; expect == 7.4e-31; MEOW:gnl|TIGR|8352.m04835 (32%) |species == rice; score == 134; expect == 7.4e-31; MEOW:gnl|TIGR|8352.m05524 (29%) |species == rice; score == 133; expect == 9.7e-31; MEOW:gnl|TIGR|8355.m04796 (33%) |species == Weed; gene == At1g62400; score == 132; expect == 9.8e-31; MEOW:ATgn0006564 (31%) } # EOR GENR { RETE|ID 1 HUgn0002049 CHR 1 3 DID 1 LocusLink:2049 MAP 1 3q21-qter NAM 1 EphB3 ORG 1 Homo sapiens SYM 1 EPHB3 ID|HUgn0002049 DID|LocusLink:2049 ORG|Homo sapiens RSQ|REFSEQ:NM_004443 RPA|REFPROT:NP_004434 DBA|XM:NM_004443 |NA:BC052968 |NA:CB993133 |NA:X75208 |NA:none PAC|XP:NP_004434 SYM|EPHB3 NAM|EphB3 SYN|ETK2 |HEK2 |TYRO6 FNC|ephrin receptor EphB3 precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, |particularly in the nervous system. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. The Eph family of receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest |subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this |gene is a receptor for ephrin-B family members. CHR|3 PRD|human embryo kinase 2 |EPH-like tyrosine kinase-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2049[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230036 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004443 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004443 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2913 DBL|UNIGENE:Hs.2913 |OMIM:601839 |SNP:2049 ENZ|EC:2.7.1.112 |ephrin receptor activity ; GO:0005003 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|3q21-qter CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ephb3; score == 1862; expect == 0.0; MEOW:MGgn0003934 (97%) |species == rat; score == 1779; expect == 0.0; MEOW:ref|XP_221311.2| (92%) |species == Human; gene == EPHB1; score == 1375; expect == 0.0; MEOW:HUgn0002047 (70%) |species == Human; gene == EPHB2; score == 1375; expect == 0.0; MEOW:HUgn0002048 (70%) |species == Human; gene == EPHA4; score == 1114; expect == 0.0; MEOW:HUgn0002043 (58%) |species == Human; gene == EPHB4; score == 1110; expect == 0.0; MEOW:HUgn0002050 (59%) |species == Zfish; gene == ephb4a; score == 1059; expect == 0.0; MEOW:ZFgn0000379 (58%) |species == Zfish; gene == rtk8; score == 1030; expect == 0.0; MEOW:ZFgn0000381 (57%) |species == Zfish; gene == rtk4; score == 965; expect == 0.0; MEOW:ZFgn0000378 (54%) |species == Mosquito; score == 691; expect == 0.0; MEOW:AGgn0007421 (40%) |species == Fruitfly; gene == Eph; score == 668; expect == 0.0; MEOW:FBgn0025936 (39%) |species == Worm; gene == vab-1; score == 312; expect == 3.7e-85; MEOW:CEgn0003021 (50%) |species == chimp; score == 172; expect == 1.9e-44; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 153; expect == 4.2e-37; MEOW:ATgn0017130 (33%) |species == rice; score == 143; expect == 9.5e-34; MEOW:gnl|TIGR|8357.m03093 (31%) |species == rice; score == 139; expect == 2.3e-32; MEOW:gnl|TIGR|8355.m02702 (33%) |species == Weed; gene == At2g17700; score == 137; expect == 3.1e-32; MEOW:ATgn0028393 (31%) |species == Weed; gene == At1g73660; score == 135; expect == 1.2e-31; MEOW:ATgn0006971 (33%) |species == rice; score == 135; expect == 3.4e-31; MEOW:gnl|TIGR|8359.m03563 (35%) |species == Weed; gene == At4g38470; score == 133; expect == 5.8e-31; MEOW:ATgn0020261 (31%) |species == Weed; gene == At3g06640; score == 132; expect == 9.9e-31; MEOW:ATgn0016813 (34%) } # EOR GENR { RETE|ID 1 HUgn0002050 CHR 1 7 DID 1 LocusLink:2050 MAP 1 7q22 NAM 1 EphB4 ORG 1 Homo sapiens SYM 1 EPHB4 ID|HUgn0002050 DID|LocusLink:2050 ORG|Homo sapiens RSQ|REFSEQ:NM_004444 RPA|REFPROT:NP_004435 DBA|XM:NM_004444 |XM:NM_004444 |NA:AF312032 |NA:AY056047 |NA:AY056048 |NA:BC004264 |NA:BC052804 |NA:CB962032 |NA:U07695 |NA:none PAC|XP:NP_004435 |XP:NP_004435 SYM|EPHB4 NAM|EphB4 SYN|HTK |MYK1 |TYRO11 FNC|ephrin receptor EphB4 precursor REAB|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, |particularly in the nervous system. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. The Eph family of receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest |subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this |gene binds to ephrin-B2 and plays an essential role in vascular development. CHR|7 PRD|hepatoma transmembrane kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437008 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2050[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362753 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004444 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004444 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437008 DBL|UNIGENE:Hs.437008 |OMIM:600011 |SNP:2050 ENZ|EC:2.7.1.112 MAP|7q22 HG|species == Mouse; gene == Ephb4; score == 1774; expect == 0.0; MEOW:MGgn0003935 (92%) |species == Zfish; gene == ephb4a; score == 1167; expect == 0.0; MEOW:ZFgn0000379 (62%) |species == Zfish; gene == rtk8; score == 1127; expect == 0.0; MEOW:ZFgn0000381 (60%) |species == Human; gene == EPHB3; score == 1110; expect == 0.0; MEOW:HUgn0002049 (59%) |species == rat; score == 1068; expect == 0.0; MEOW:ref|XP_221311.2| (57%) |species == Human; gene == EPHB2; score == 1064; expect == 0.0; MEOW:HUgn0002048 (56%) |species == Human; gene == EPHB1; score == 1030; expect == 0.0; MEOW:HUgn0002047 (56%) |species == rat; score == 1028; expect == 0.0; MEOW:ref|XP_217250.1| (56%) |species == Human; gene == EPHA4; score == 943; expect == 0.0; MEOW:HUgn0002043 (51%) |species == rat; score == 930; expect == 0.0; MEOW:ref|NP_599158.1| (49%) |species == Human; gene == EPHA7; score == 929; expect == 0.0; MEOW:HUgn0002045 (49%) |species == Human; gene == EPHA5; score == 898; expect == 0.0; MEOW:HUgn0002044 (48%) |species == rat; score == 894; expect == 0.0; MEOW:ref|XP_346415.1| (48%) |species == Human; gene == EPHA3; score == 892; expect == 0.0; MEOW:HUgn0002042 (48%) |species == rat; score == 871; expect == 0.0; MEOW:ref|XP_341202.1| (47%) |species == Mosquito; score == 642; expect == 0.0; MEOW:AGgn0007421 (39%) |species == Fruitfly; gene == Eph; score == 618; expect == 5e-177; MEOW:FBgn0025936 (38%) |species == Worm; gene == vab-1; score == 319; expect == 3.0e-87; MEOW:CEgn0003021 (48%) |species == chimp; score == 175; expect == 1.7e-45; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At4g35780; score == 156; expect == 8.3e-38; MEOW:ATgn0017130 (32%) |species == rice; score == 142; expect == 2.1e-33; MEOW:gnl|TIGR|8357.m03093 (30%) |species == Weed; gene == At2g17700; score == 141; expect == 2.8e-33; MEOW:ATgn0028393 (30%) |species == rice; score == 139; expect == 1.4e-32; MEOW:gnl|TIGR|8355.m02702 (32%) |species == rice; score == 138; expect == 3.9e-32; MEOW:gnl|TIGR|8359.m03563 (34%) |species == Weed; gene == At3g06640; score == 134; expect == 3.4e-31; MEOW:ATgn0016813 (33%) |species == Weed; gene == At4g38470; score == 134; expect == 3.4e-31; MEOW:ATgn0020261 (30%) |species == rice; score == 134; expect == 5.7e-31; MEOW:gnl|TIGR|8351.m04858 (31%) |species == Weed; gene == At1g73660; score == 133; expect == 4.4e-31; MEOW:ATgn0006971 (33%) } # EOR GENR { RETE|ID 1 HUgn0002051 CHR 1 7 DID 1 LocusLink:2051 MAP 1 7q33-q35 NAM 1 EphB6 ORG 1 Homo sapiens SYM 1 EPHB6 ID|HUgn0002051 DID|LocusLink:2051 ORG|Homo sapiens RSQ|REFSEQ:NM_004445 RPA|REFPROT:NP_004436 DBA|XM:NM_004445 |XM:NM_004445 |NA:AF107256 |NA:AL832533 |NA:BC015495 |NA:BC047892 |NA:BC051028 |NA:BC056159 |NA:D83492 |NA:none PAC|XP:NP_004436 |XP:NP_004436 SYM|EPHB6 NAM|EphB6 SYN|HEP FNC|ephrin receptor EphB6 precursor |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 REAB|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, |particularly in the nervous system. Based on their structures and sequence relationships, |ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane |by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which |are transmembrane proteins. The Eph family of receptors are divided into 2 groups |based on the similarity of their extracellular domain sequences and their affinities |for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest |subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded |by this gene lacks the kinase activity of most receptor tyrosine kinases and binds |to ephrin-B ligands. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380089 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2051[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9032954 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004445 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004445 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380089 DBL|UNIGENE:Hs.380089 |OMIM:602757 |SNP:2051 MAP|7q33-q35 ENZ|ephrin receptor activity ; GO:0005003 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Ephb6; score == 1718; expect == 0.0; MEOW:MGgn0003937 (92%) |species == Human; gene == EPHB2; score == 914; expect == 0.0; MEOW:HUgn0002048 (46%) |species == rat; score == 880; expect == 0.0; MEOW:ref|XP_217250.1| (46%) |species == Human; gene == EPHB1; score == 879; expect == 0.0; MEOW:HUgn0002047 (46%) |species == Human; gene == EPHB3; score == 859; expect == 0.0; MEOW:HUgn0002049 (45%) |species == rat; score == 765; expect == 0.0; MEOW:ref|XP_221311.2| (44%) |species == Zfish; gene == rtk8; score == 746; expect == 0.0; MEOW:ZFgn0000381 (41%) |species == Human; gene == EPHB4; score == 745; expect == 0.0; MEOW:HUgn0002050 (42%) |species == rat; score == 712; expect == 0.0; MEOW:ref|NP_599158.1| (41%) |species == Zfish; gene == ephb4a; score == 675; expect == 0.0; MEOW:ZFgn0000379 (41%) |species == Zfish; gene == rtk4; score == 667; expect == 0.0; MEOW:ZFgn0000378 (41%) |species == Mosquito; score == 479; expect == 1e-135; MEOW:AGgn0007421 (31%) |species == Fruitfly; gene == Eph; score == 432; expect == 3e-121; MEOW:FBgn0025936 (30%) |species == Worm; gene == vab-1; score == 221; expect == 1.5e-57; MEOW:CEgn0003021 (36%) } # EOR GENR { RETE|ID 1 HUgn0002052 CHR 1 1 DID 1 LocusLink:2052 MAP 1 1q42.1 NAM 1 epoxide hydrolase 1, microsomal (xenobiotic) ORG 1 Homo sapiens SYM 1 EPHX1 ID|HUgn0002052 DID|LocusLink:2052 ORG|Homo sapiens RSQ|REFSEQ:NM_000120 RPA|REFPROT:NP_000111 DBA|XM:NM_000120 |NA:AF253417 |NA:U06661 |NA:X15459 |NA:BC003567 |NA:BC008291 |NA:J03518 |NA:L25878 |NA:L25879 |NA:M36374 |NA:X07936 |NA:Y00424 |NA:none PAC|XP:NP_000111 SYM|EPHX1 NAM|epoxide hydrolase 1, microsomal (xenobiotic) SYN|MEH |EPHX |EPOX FNC|epoxide hydrolase 1, microsomal (xenobiotic) |response to toxin ; GO:0009636 |xenobiotic metabolism ; GO:0006805 REAB|Epoxide hydrolase plays an important role in both the activation and detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons. CHR|1 PRD|Epoxide hydroxylase 1, microsomal (xenobiotic) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89649 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2052[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119876 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000120 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000120 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89649 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00625 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27829 DBL|UNIGENE:Hs.89649 |OMIM:132810 |SNP:2052 |UWCM:119876.html ENZ|EC:3.3.2.3 |epoxide hydrolase activity ; GO:0004301 |hydrolase activity ; GO:0016787 MAP|1q42.1 CEL|microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Ephx1; score == 818; expect == 0.0; MEOW:MGgn0003938 (83%) |species == rat; score == 732; expect == 0.0; MEOW:ref|NP_036976.1| (76%) |species == Worm; gene == W01A11.1; score == 377; expect == 5e-105; MEOW:CEgn0017286 (46%) |species == Mosquito; gene == LOC14385; score == 366; expect == 1e-101; MEOW:AGgn0014385 (42%) |species == Fruitfly; gene == Jheh2; score == 344; expect == 6.8e-95; MEOW:FBgn0034405 (42%) |species == Mosquito; score == 337; expect == 1.1e-92; MEOW:AGgn0026826 (42%) |species == Fruitfly; gene == Jheh3; score == 314; expect == 7.7e-86; MEOW:FBgn0034406 (37%) } # EOR GENR { RETE|ID 1 HUgn0002053 CHR 1 8 DID 1 LocusLink:2053 MAP 1 8p21-p12 NAM 1 epoxide hydrolase 2, cytoplasmic ORG 1 Homo sapiens SYM 1 EPHX2 ID|HUgn0002053 DID|LocusLink:2053 ORG|Homo sapiens RSQ|REFSEQ:NM_001979 RPA|REFPROT:NP_001970 DBA|XM:NM_001979 |NA:X97024 |NA:AF233334 |NA:AF233335 |NA:AF233336 |NA:AK096089 |NA:AK096770 |NA:BC007708 |NA:BC011628 |NA:BC013874 |NA:BT006885 |NA:L05779 |NA:none PAC|XP:NP_001970 SYM|EPHX2 NAM|epoxide hydrolase 2, cytoplasmic FNC|epoxide hydrolase 2, cytoplasmic CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=212088 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2053[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371845 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001979 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001979 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=212088 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00625 DBL|UNIGENE:Hs.212088 |OMIM:132811 |SNP:2053 ENZ|EC:3.3.2.3 MAP|8p21-p12 HG|species == Mouse; gene == Ephx2; score == 862; expect == 0.0; MEOW:MGgn0003939 (73%) |species == rat; score == 858; expect == 0.0; MEOW:ref|NP_075225.1| (72%) |species == Weed; gene == At4g02340; score == 189; expect == 3.5e-48; MEOW:ATgn0018579 (32%) |species == Weed; gene == At3g51000; score == 185; expect == 3.3e-47; MEOW:ATgn0016624 (35%) |species == Weed; gene == ATsEH; score == 183; expect == 1.9e-46; MEOW:ATgn0009807 (34%) |species == Weed; gene == At3g05600; score == 183; expect == 1.7e-46; MEOW:ATgn0015980 (34%) |species == rice; score == 180; expect == 3.6e-45; MEOW:gnl|TIGR|8360.m05544 (33%) |species == rice; score == 174; expect == 2.0e-43; MEOW:gnl|TIGR|8360.m05542 (32%) |species == Weed; gene == At2g26750; score == 173; expect == 2.0e-43; MEOW:ATgn0009809 (34%) |species == rice; score == 171; expect == 1.7e-42; MEOW:gnl|TIGR|8359.m04216 (33%) |species == rice; score == 168; expect == 1.4e-41; MEOW:gnl|TIGR|8350.m01419 (33%) |species == rice; score == 166; expect == 5.4e-41; MEOW:gnl|TIGR|8353.m01632 (32%) |species == Human; gene == FLJ90341; score == 158; expect == 3.9e-39; MEOW:HUgn0253152 (31%) |species == Weed; gene == At4g15960; score == 155; expect == 3.4e-38; MEOW:ATgn0020675 (30%) |species == Human; gene == FLJ22408; score == 134; expect == 1.0e-31; MEOW:HUgn0079852 (28%) } # EOR GENR { RETE|ID 1 HUgn0002054 CHR 1 12 DID 1 LocusLink:2054 MAP 1 12q24.33 NAM 1 epimorphin ORG 1 Homo sapiens SYM 1 EPIM ID|HUgn0002054 DID|LocusLink:2054 ORG|Homo sapiens RSQ|REFSEQ:NM_001980 |REFSEQ:NM_194356 RPA|REFPROT:NP_001971 |REFPROT:NP_919337 DBA|NA:AF052181 |NA:BC047496 |NA:CD300217 |NA:D14582 |NA:none SYM|EPIM NAM|epimorphin SYN|STX2A |STX2B |STX2C |MGC51014 FNC|epimorphin isoform 1 |epimorphin isoform 2 |ectoderm development ; GO:0007398 |intracellular protein transport ; GO:0006886 |histogenesis and organogenesis ; GO:0007397 |signal transduction ; GO:0007165 REAB|The product of this gene belongs to the syntaxin/epimorphin family of proteins. The |syntaxins are a large protein family implicated in the targeting and fusion of intracellular |transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions |and epithelial cell morphogenesis and activation. Alternatively spliced transcript |variants encoding different isoforms have been identified. CHR|12 PRD|syntaxin 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99865 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362733 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_194356 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_194356 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99865 DBL|UNIGENE:Hs.99865 |OMIM:132350 |SNP:2054 MAP|12q24.33 ENZ|protein transporter activity ; GO:0008565 CEL|microsome ; GO:0005792 |soluble fraction ; GO:0005625 |integral to membrane ; GO:0016021 HG|species == Human; gene == LOC374485; score == 483; expect == 3e-137; MEOW:HUgn0374485 (99%) |species == Mouse; gene == Epim; score == 458; expect == 9e-130; MEOW:MGgn0003941 (86%) |species == rat; score == 455; expect == 2e-128; MEOW:ref|NP_036880.1| (85%) |species == Zfish; gene == syntaxin1b; score == 333; expect == 3.7e-93; MEOW:ZFgn0000883 (64%) |species == Fruitfly; gene == Syx1A; score == 310; expect == 5.9e-85; MEOW:FBgn0013343 (61%) |species == Mosquito; score == 302; expect == 1.6e-82; MEOW:AGgn0027989 (60%) |species == Mosquito; score == 295; expect == 2.1e-80; MEOW:AGgn0021541 (63%) |species == Worm; gene == unc-64; score == 290; expect == 6.3e-79; MEOW:CEgn0002949 (56%) } # EOR GENR { RETE|ID 1 HUgn0002055 CHR 1 8 DID 1 LocusLink:2055 MAP 1 8p23 NAM 1 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ORG 1 Homo sapiens SYM 1 CLN8 ID|HUgn0002055 DID|LocusLink:2055 ORG|Homo sapiens RSQ|REFSEQ:NM_018941 RPA|REFPROT:NP_061764 DBA|XM:NM_018941 |NA:AF123757 |NA:AF123758 |NA:AF123759 |NA:AF123760 |NA:AF123761 |NA:BC007725 |NA:none PAC|XP:NP_061764 SYM|CLN8 NAM|ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) SYN|EPMR FNC|CLN8 protein |neurogenesis ; GO:0007399 REAB|This gene encodes a putative transmembrane domain protein located in the endoplasmic |reticulum (ER). The encoded protein may recycle between the ER and ER-Golgi intermediate |compartment. Mutations in this gene are associated with progressive epilepsy with |mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses |(NCL). CHR|8 PRD|epilepsy, progressive with mental retardation URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=127675 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2055[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:252118 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_018941 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_018941 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=127675 |http://www.ncbi.nlm.nih.gov/disease/Epilepsy.html DBL|UNIGENE:Hs.127675 |OMIM:607837 |SNP:2055 |UWCM:252118.html MAP|8p23 PHP|Ceroid lipofuscinosis, neuronal 8 CEL|ER-Golgi intermediate compartment ; GO:0005793 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == rat; score == 501; expect == 1e-142; MEOW:ref|XP_225033.2| (85%) |species == Mouse; gene == Cln8; score == 496; expect == 3e-141; MEOW:MGgn0001453 (85%) } # EOR GENR { RETE|ID 1 HUgn0002056 CHR 1 7 DID 1 LocusLink:2056 MAP 1 7q22 NAM 1 erythropoietin ORG 1 Homo sapiens SYM 1 EPO ID|HUgn0002056 DID|LocusLink:2056 ORG|Homo sapiens RSQ|REFSEQ:NM_000799 RPA|REFPROT:NP_000790 DBA|XM:NM_000799 |XM:NM_000799 |NA:AF053356 |NA:M11319 |NA:X02158 |NA:X02157 |NA:none PAC|XP:NP_000790 |XP:NP_000790 SYM|EPO NAM|erythropoietin SYN|EP FNC|erythropoietin |response to stress ; GO:0006950 |circulation ; GO:0008015 |development ; GO:0007275 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Human erythropoietin is an acidic glycoprotein hormone with a molecular mass of 34 |kD. As the prime regulator of red cell production, its major functions are to promote |erythroid differentiation and to initiate hemoglobin synthesis.[supplied by OMIM] CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2303 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2056[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119110 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000799 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000799 DBL|UNIGENE:Hs.2303 |OMIM:133170 |SNP:2056 MAP|7q22 ENZ|erythropoietin receptor binding ; GO:0005128 |hormone activity ; GO:0005179 |peptide hormone ; GO:0005180 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Epo; score == 268; expect == 1.0e-72; MEOW:MGgn0003945 (79%) |species == rat; score == 243; expect == 4.6e-65; MEOW:ref|NP_058697.1| (81%) |species == chimp; score == 229; expect == 4.1e-61; MEOW:sp|Q8HZ89|Q8HZ89 (98%) } # EOR GENR { RETE|ID 1 HUgn0002057 CHR 1 19 DID 1 LocusLink:2057 MAP 1 19p13.3-p13.2 NAM 1 erythropoietin receptor ORG 1 Homo sapiens SYM 1 EPOR ID|HUgn0002057 DID|LocusLink:2057 ORG|Homo sapiens RSQ|REFSEQ:NM_000121 RPA|REFPROT:NP_000112 DBA|XM:NM_000121 |NA:M76595 |NA:M77244 |NA:S45332 |NA:AK074082 |NA:M34986 |NA:M60459 |NA:X57282 |NA:X97671 PAC|XP:NP_000112 SYM|EPOR NAM|erythropoietin receptor FNC|erythropoietin receptor precursor |signal transduction ; GO:0007165 REAB|The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin |binding, the erythropoietin receptor activates Jak2 tyrosine kinase which activates |different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol |3-kinase and STAT transcription factors. The stimulated erythropoietin receptor |appears to have a role in erythroid cell survival. Defects in the erythropoietin |receptor may produce erythroleukemia and familial erythrocytosis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=127826 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2057[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125242 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000121 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000121 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27834 DBL|UNIGENE:Hs.127826 |OMIM:133171 |SNP:2057 MAP|19p13.3-p13.2 PHP|Erythrocytosis, familial ENZ|erythropoietin receptor activity ; GO:0004900 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Epor; score == 766; expect == 0.0; MEOW:MGgn0003946 (81%) |species == rat; score == 758; expect == 0.0; MEOW:ref|NP_058698.1| (80%) } # EOR GENR { RETE|ID 1 HUgn0002058 CHR 1 1 DID 1 LocusLink:2058 MAP 1 1q41-q42 NAM 1 glutamyl-prolyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 EPRS ID|HUgn0002058 DID|LocusLink:2058 ORG|Homo sapiens RSQ|REFSEQ:NM_004446 RPA|REFPROT:NP_004437 DBA|XM:NM_004446 |NA:X72396 |NA:X72397 |NA:X72398 |NA:X72399 |NA:X72400 |NA:X72401 |NA:X72402 |NA:X72403 |NA:X72404 |NA:X72405 |NA:X72406 |NA:X72407 |NA:X72408 |NA:X72409 |NA:X72410 |NA:X72411 |NA:X72412 |NA:X72413 |NA:X72414 |NA:X72415 |NA:X72416 |NA:X72417 |NA:X72418 |NA:X72419 |NA:X72420 |NA:X72421 |NA:BC058921 |NA:X07466 |NA:X54326 |NA:none PAC|XP:NP_004437 SYM|EPRS NAM|glutamyl-prolyl-tRNA synthetase SYN|PARS |QARS |QPRS FNC|glutamyl-prolyl tRNA synthetase |glutamyl-tRNA aminoacylation ; GO:0006424 |prolyl-tRNA aminoacylation ; GO:0006433 |protein complex assembly ; GO:0006461 REAB|Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate |amino acids. In humans, the glutamyl-tRNA synthetase (GluRS) and prolyl-tRNA synthetase |(ProRS) activities are contained within a single polypeptide chain, even though |these enzymes belong to different classes and are thought to have evolved along |independent evolutionary pathways. Glutamyl-prolyl-tRNA synthetase is made up of |1,440 amino acids encoded by 29 exons. The exons encoding the glutamyl-specific |and prolyl-specific parts of the enzyme are clustered at opposite ends of the gene, |separated by a long intervening DNA section with a number of exons which encode |functions that may be involved in the organization of the mammalian multienzyme |synthetase complex. CHR|1 PRD|glutamate tRNA ligase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171292 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2058[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126609 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004446 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004446 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27837 DBL|UNIGENE:Hs.171292 |OMIM:138295 |SNP:2058 ENZ|EC:6.1.1.15 |EC:6.1.1.17 |ATP binding ; GO:0005524 |glutamate-tRNA ligase activity ; GO:0004818 |proline-tRNA ligase activity ; GO:0004827 |ligase activity ; GO:0016874 MAP|1q41-q42 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 2505; expect == 0.0; MEOW:ref|XP_213969.2| (84%) |species == Mosquito; gene == LOC11064; score == 1647; expect == 0.0; MEOW:AGgn0011064 (58%) |species == Fruitfly; gene == Aats-glupro; score == 896; expect == 0.0; MEOW:FBgn0005674 (53%) |species == Worm; gene == ers-2; score == 813; expect == 0.0; MEOW:CEgn0020666 (51%) |species == Yeast; gene == YHR020W; score == 599; expect == 1e-171; MEOW:SGgn0001062 (56%) |species == Weed; gene == At5g26710; score == 565; expect == 3e-161; MEOW:ATgn0024879 (44%) |species == Weed; gene == At3g62120; score == 559; expect == 4e-159; MEOW:ATgn0014683 (55%) |species == Yeast; gene == YGL245W; score == 550; expect == 6e-157; MEOW:SGgn0003214 (45%) |species == rice; score == 543; expect == 1e-154; MEOW:gnl|TIGR|8350.m07034 (44%) |species == rice; score == 538; expect == 3e-152; MEOW:gnl|TIGR|8359.m02385 (52%) |species == ecoli; score == 297; expect == 1.6e-80; MEOW:ref|NP_415206.1| (34%) |species == Human; gene == QARS; score == 252; expect == 1.3e-66; MEOW:HUgn0005859 (33%) |species == Mouse; gene == Qars; score == 240; expect == 2.5e-63; MEOW:MGgn0015932 (33%) } # EOR GENR { RETE|ID 1 HUgn0002059 CHR 1 12 DID 1 LocusLink:2059 MAP 1 12q23-q24 NAM 1 epidermal growth factor receptor pathway substrate 8 ORG 1 Homo sapiens SYM 1 EPS8 ID|HUgn0002059 DID|LocusLink:2059 ORG|Homo sapiens RSQ|REFSEQ:NM_004447 RPA|REFPROT:NP_004438 DBA|XM:NM_004447 |NA:BC005836 |NA:BC030010 |NA:U12535 |NA:none PAC|XP:NP_004438 SYM|EPS8 NAM|epidermal growth factor receptor pathway substrate 8 FNC|epidermal growth factor receptor pathway substrate 8 |EGF receptor signaling pathway ; GO:0007173 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2132 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2059[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:434312 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004447 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004447 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2132 DBL|UNIGENE:Hs.2132 |OMIM:600206 |SNP:2059 MAP|12q23-q24 ENZ|SH3/SH2 adaptor protein activity ; GO:0005070 HG|species == rat; score == 1312; expect == 0.0; MEOW:ref|XP_232499.2| (90%) |species == Mouse; gene == Eps8; score == 1290; expect == 0.0; MEOW:MGgn0003950 (88%) |species == Human; gene == EPS8L2; score == 512; expect == 2e-145; MEOW:HUgn0064787 (41%) } # EOR GENR { RETE|ID 1 HUgn0002060 CHR 1 1 DID 1 LocusLink:2060 MAP 1 1p32 NAM 1 epidermal growth factor receptor pathway substrate 15 ORG 1 Homo sapiens SYM 1 EPS15 ID|HUgn0002060 DID|LocusLink:2060 ORG|Homo sapiens RSQ|REFSEQ:NM_001981 RPA|REFPROT:NP_001972 DBA|XM:NM_001981 |NA:AK090936 |NA:BC054006 |NA:BX647676 |NA:U07707 |NA:Z29064 |NA:none PAC|XP:NP_001972 SYM|EPS15 NAM|epidermal growth factor receptor pathway substrate 15 SYN|AF1P |AF-1P |MLLT5 FNC|epidermal growth factor receptor pathway substrate 15 |EGF receptor signaling pathway ; GO:0007173 |cell proliferation ; GO:0008283 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79095 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2060[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:360337 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001981 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001981 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.121 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79095 DBL|UNIGENE:Hs.79095 |OMIM:600051 |SNP:2060 MAP|1p32 ENZ|calcium ion binding ; GO:0005509 HG|species == Mouse; gene == Eps15; score == 1440; expect == 0.0; MEOW:MGgn0003948 (88%) |species == rat; score == 769; expect == 0.0; MEOW:ref|XP_233335.2| (82%) |species == Human; gene == EPS15R; score == 658; expect == 0.0; MEOW:HUgn0058513 (45%) |species == Mosquito; gene == LOC16740; score == 343; expect == 2.8e-94; MEOW:AGgn0016740 (35%) |species == Fruitfly; gene == Eps-15; score == 205; expect == 6.2e-53; MEOW:FBgn0035060 (26%) |species == Yeast; gene == EDE1; score == 134; expect == 8.4e-32; MEOW:SGgn0000143 (28%) } # EOR GENR { RETE|ID 1 HUgn0002063 CHR 1 19 DID 1 LocusLink:2063 MAP 1 19p13.1 NAM 1 nuclear receptor subfamily 2, group F, member 6 ORG 1 Homo sapiens SYM 1 NR2F6 ID|HUgn0002063 DID|LocusLink:2063 ORG|Homo sapiens RSQ|REFSEQ:NM_005234 RPA|REFPROT:NP_005225 DBA|XM:NM_005234 |NA:X12794 |NA:BC002669 |NA:none PAC|XP:NP_005225 SYM|NR2F6 NAM|nuclear receptor subfamily 2, group F, member 6 SYN|EAR2 |EAR-2 |ERBAL2 FNC|nuclear receptor subfamily 2, group F, member 6 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 CHR|19 PRD|ERBA-related gene-2 |v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=239752 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2063[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119878 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005234 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005234 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=239752 DBL|UNIGENE:Hs.239752 |OMIM:132880 |SNP:2063 MAP|19p13.1 ENZ|thyroid hormone receptor activity ; GO:0004887 |steroid hormone receptor activity ; GO:0003707 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Human; gene == NR2F2; score == 494; expect == 5e-140; MEOW:HUgn0007026 (70%) |species == Mouse; gene == Nr2f2; score == 494; expect == 5e-140; MEOW:MGgn0013428 (70%) |species == Zfish; gene == nr2f2; score == 494; expect == 5e-140; MEOW:ZFgn0000338 (68%) |species == rat; score == 494; expect == 5e-140; MEOW:ref|NP_542956.1| (70%) |species == Human; gene == NR2F1; score == 493; expect == 1e-139; MEOW:HUgn0007025 (69%) |species == Mouse; gene == Nr2f1; score == 493; expect == 1e-139; MEOW:MGgn0013427 (69%) |species == Zfish; gene == nr2f1; score == 492; expect == 2e-139; MEOW:ZFgn0000008 (69%) |species == Mosquito; gene == LOC2992; score == 477; expect == 8e-135; MEOW:AGgn0002992 (65%) |species == Fruitfly; gene == svp; score == 468; expect == 3e-132; MEOW:FBgn0003651 (66%) |species == Worm; gene == unc-55; score == 185; expect == 2.4e-47; MEOW:CEgn0002941 (33%) } # EOR GENR { RETE|ID 1 HUgn0002064 CHR 1 17 DID 1 LocusLink:2064 MAP 1 17q11.2-q12 NAM 1 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) ORG 1 Homo sapiens SYM 1 ERBB2 ID|HUgn0002064 DID|LocusLink:2064 ORG|Homo sapiens RSQ|REFSEQ:NM_004448 RPA|REFPROT:NP_004439 DBA|XM:NM_004448 |NA:AB025285 |NA:AB025286 |NA:AF177761 |NA:M11730 |NA:X03363 PAC|XP:NP_004439 SYM|ERBB2 NAM|v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) SYN|NEU |NGL |HER2 |TKR1 |HER-2 FNC|v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog |enzyme linked receptor protein signaling pathway ; GO:0007167 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |cell proliferation ; GO:0008283 |oncogenesis ; GO:0007048 |protein amino acid dephosphorylation ; GO:0006470 CHR|17 PRD|Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 |v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446352 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2064[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120613 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004448 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004448 DBL|UNIGENE:Hs.446352 |OMIM:164870 |SNP:2064 ENZ|EC:2.7.1.112 |Neu/ErbB-2 receptor activity ; GO:0005012 |receptor signaling protein tyrosine kinase activity ; GO:0004716 MAP|17q11.2-q12 PHP|Tyrosine kinase receptor, a component of IL-6 signalling through the MAP kinase pathway; similar to the EGF receptor HG|species == rat; score == 2140; expect == 0.0; MEOW:ref|NP_058699.1| (87%) |species == Human; gene == EGFR; score == 1159; expect == 0.0; MEOW:HUgn0001956 (49%) |species == Human; gene == ERBB4; score == 1100; expect == 0.0; MEOW:HUgn0002066 (46%) |species == Mouse; gene == Erbb2; score == 597; expect == 1e-170; MEOW:MGgn0003956 (88%) |species == Mouse; gene == Egfr; score == 569; expect == 2e-162; MEOW:MGgn0003731 (44%) |species == Mosquito; gene == LOC18805; score == 437; expect == 3e-122; MEOW:AGgn0018805 (45%) |species == Mosquito; gene == LOC24883; score == 437; expect == 3e-122; MEOW:AGgn0024883 (45%) |species == Fruitfly; gene == Egfr; score == 409; expect == 6e-114; MEOW:FBgn0003731 (39%) |species == Worm; gene == let-23; score == 251; expect == 2.0e-66; MEOW:CEgn0001128 (34%) |species == Zfish; gene == rtk6; score == 202; expect == 4.9e-53; MEOW:ZFgn0000380 (38%) |species == Zfish; gene == ephb4a; score == 201; expect == 1.1e-52; MEOW:ZFgn0000379 (38%) |species == Zfish; gene == rtk8; score == 198; expect == 7.1e-52; MEOW:ZFgn0000381 (37%) |species == Zfish; gene == ptk2; score == 198; expect == 7.1e-52; MEOW:ZFgn0002424 (39%) |species == Zfish; gene == ret1; score == 194; expect == 1.3e-50; MEOW:ZFgn0000090 (34%) |species == Zfish; gene == ek3; score == 193; expect == 3.0e-50; MEOW:ZFgn0000468 (37%) |species == Zfish; gene == ek1; score == 191; expect == 1.5e-49; MEOW:ZFgn0000466 (36%) |species == Zfish; gene == rtk4; score == 187; expect == 1.6e-48; MEOW:ZFgn0000378 (37%) |species == Zfish; gene == ek2; score == 185; expect == 6.2e-48; MEOW:ZFgn0000467 (37%) |species == Zfish; gene == fgfr3; score == 181; expect == 1.2e-46; MEOW:ZFgn0000918 (35%) |species == chimp; score == 138; expect == 3.9e-34; MEOW:sp|BAC78172|BAC78172 (32%) } # EOR GENR { RETE|ID 1 HUgn0002065 CHR 1 12 DID 1 LocusLink:2065 MAP 1 12q13 NAM 1 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) ORG 1 Homo sapiens SYM 1 ERBB3 ID|HUgn0002065 DID|LocusLink:2065 ORG|Homo sapiens RSQ|REFSEQ:NM_001982 RPA|REFPROT:NP_001973 DBA|XM:NM_001982 |NA:BC002706 |NA:BC041579 |NA:BT007226 |NA:M29366 |NA:M34309 |NA:S61953 |NA:none PAC|XP:NP_001973 SYM|ERBB3 NAM|v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) SYN|HER3 FNC|v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 CHR|12 PRD|Transformation gene ERBB-3 |v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=306251 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2065[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119880 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001982 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001982 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=306251 DBL|UNIGENE:Hs.306251 |OMIM:190151 |SNP:2065 ENZ|EC:2.7.1.112 |epidermal growth factor receptor activity ; GO:0005006 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|12q13 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 2279; expect == 0.0; MEOW:ref|NP_058914.2| (88%) |species == Human; gene == ERBB4; score == 1196; expect == 0.0; MEOW:HUgn0002066 (58%) |species == Mouse; gene == Egfr; score == 603; expect == 1e-172; MEOW:MGgn0003731 (46%) |species == Fruitfly; gene == Egfr; score == 456; expect == 3e-128; MEOW:FBgn0003731 (39%) |species == Mosquito; gene == LOC18805; score == 417; expect == 2e-116; MEOW:AGgn0018805 (36%) |species == Mosquito; gene == LOC24883; score == 416; expect == 5e-116; MEOW:AGgn0024883 (36%) |species == Worm; gene == let-23; score == 295; expect == 1.6e-79; MEOW:CEgn0001128 (28%) |species == Zfish; gene == ret1; score == 168; expect == 8.5e-43; MEOW:ZFgn0000090 (31%) |species == Zfish; gene == ptk2; score == 166; expect == 3.2e-42; MEOW:ZFgn0002424 (34%) |species == Zfish; gene == rtk6; score == 162; expect == 7.9e-41; MEOW:ZFgn0000380 (35%) |species == Zfish; gene == jak2b; score == 161; expect == 1.4e-40; MEOW:ZFgn0000012 (33%) |species == Zfish; gene == fgfr4; score == 159; expect == 5.1e-40; MEOW:ZFgn0000165 (33%) |species == Zfish; gene == rtk8; score == 157; expect == 1.5e-39; MEOW:ZFgn0000381 (30%) |species == Zfish; gene == ek1; score == 157; expect == 1.5e-39; MEOW:ZFgn0000466 (33%) |species == Zfish; gene == rtk4; score == 156; expect == 3.3e-39; MEOW:ZFgn0000378 (31%) |species == Zfish; gene == fgfr3; score == 156; expect == 3.3e-39; MEOW:ZFgn0000918 (32%) |species == Zfish; gene == ek3; score == 154; expect == 1.3e-38; MEOW:ZFgn0000468 (30%) } # EOR GENR { RETE|ID 1 HUgn0002066 CHR 1 2 DID 1 LocusLink:2066 MAP 1 2q33.3-q34 NAM 1 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) ORG 1 Homo sapiens SYM 1 ERBB4 ID|HUgn0002066 DID|LocusLink:2066 ORG|Homo sapiens RSQ|REFSEQ:NM_005235 RPA|REFPROT:NP_005226 DBA|XM:NM_005235 |NA:L07868 |NA:none PAC|XP:NP_005226 SYM|ERBB4 NAM|v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) SYN|HER4 FNC|v-erb-a erythroblastic leukemia viral oncogene homolog 4 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |protein amino acid phosphorylation ; GO:0006468 |development ; GO:0007275 |cell proliferation ; GO:0008283 REAB|The HER4/ERBB4 gene is a member of the type I receptor tyrosine kinase subfamily |that includes EGFR (MIM 131550), ERBB2 (MIM 164870), and ERBB3 (MIM 190151). It |encodes a receptor for NDF/heregulin (MIM 142445).[supplied by OMIM] CHR|2 PRD|avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 |v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1939 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2066[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:569348 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005235 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005235 DBL|UNIGENE:Hs.1939 |OMIM:600543 |SNP:2066 MAP|2q33.3-q34 ENZ|epidermal growth factor receptor activity ; GO:0005006 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 2630; expect == 0.0; MEOW:ref|NP_067719.1| (96%) |species == Human; gene == EGFR; score == 1231; expect == 0.0; MEOW:HUgn0001956 (50%) |species == Human; gene == ERBB3; score == 1196; expect == 0.0; MEOW:HUgn0002065 (58%) |species == Human; gene == ERBB2; score == 1100; expect == 0.0; MEOW:HUgn0002064 (46%) |species == Mouse; gene == Egfr; score == 644; expect == 0.0; MEOW:MGgn0003731 (48%) |species == Mosquito; gene == LOC18805; score == 458; expect == 1e-128; MEOW:AGgn0018805 (42%) |species == Mosquito; gene == LOC24883; score == 458; expect == 1e-128; MEOW:AGgn0024883 (42%) |species == Fruitfly; gene == Egfr; score == 445; expect == 1e-124; MEOW:FBgn0003731 (39%) |species == Worm; gene == let-23; score == 282; expect == 1.4e-75; MEOW:CEgn0001128 (28%) |species == Zfish; gene == ptk2; score == 215; expect == 7.7e-57; MEOW:ZFgn0002424 (39%) |species == Zfish; gene == rtk6; score == 208; expect == 9.4e-55; MEOW:ZFgn0000380 (35%) |species == Zfish; gene == ek1; score == 205; expect == 6.1e-54; MEOW:ZFgn0000466 (36%) |species == Zfish; gene == rtk4; score == 203; expect == 4.0e-53; MEOW:ZFgn0000378 (34%) |species == Zfish; gene == rtk8; score == 200; expect == 2.6e-52; MEOW:ZFgn0000381 (34%) |species == Zfish; gene == ephb4a; score == 194; expect == 1.4e-50; MEOW:ZFgn0000379 (34%) |species == Zfish; gene == ek2; score == 188; expect == 1.3e-48; MEOW:ZFgn0000467 (37%) |species == Zfish; gene == ek3; score == 188; expect == 1.0e-48; MEOW:ZFgn0000468 (33%) |species == Zfish; gene == fgfr4; score == 186; expect == 2.9e-48; MEOW:ZFgn0000165 (37%) |species == Zfish; gene == itk; score == 183; expect == 2.5e-47; MEOW:ZFgn0000238 (36%) |species == Weed; gene == At2g17700; score == 144; expect == 2.6e-34; MEOW:ATgn0028393 (31%) |species == Weed; gene == At4g35780; score == 143; expect == 7.5e-34; MEOW:ATgn0017130 (31%) |species == Weed; gene == At4g38470; score == 143; expect == 7.5e-34; MEOW:ATgn0020261 (31%) |species == chimp; score == 143; expect == 1.3e-35; MEOW:sp|BAC78172|BAC78172 (31%) |species == rice; score == 141; expect == 4.8e-33; MEOW:gnl|TIGR|8357.m03093 (31%) |species == Weed; gene == At3g50730; score == 135; expect == 1.6e-31; MEOW:ATgn0016552 (30%) } # EOR GENR { RETE|ID 1 HUgn0002067 CHR 1 19 DID 1 LocusLink:2067 MAP 1 19q13.2-q13.3 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) ORG 1 Homo sapiens SYM 1 ERCC1 ID|HUgn0002067 DID|LocusLink:2067 ORG|Homo sapiens RSQ|REFSEQ:NM_001983 RPA|REFPROT:NP_001974 DBA|XM:NM_001983 |NA:AB069681 |NA:AF001925 |NA:BC008930 |NA:BC052813 |NA:M13194 |NA:M28650 PAC|XP:NP_001974 SYM|ERCC1 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) SYN|UV20 FNC|excision repair cross-complementing 1 |nucleotide-excision repair ; GO:0006289 |embryogenesis and morphogenesis ; GO:0007345 |DNA repair ; GO:0006281 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435981 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2067[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119111 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001983 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001983 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435981 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA155 DBL|UNIGENE:Hs.435981 |OMIM:126380 |SNP:2067 MAP|19q13.2-q13.3 PHP|Endonuclease with role in nucleotide excision repair; mouse ortholog is essential protein Ercc1 ENZ|endodeoxyribonuclease activity ; GO:0004520 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ercc1; score == 514; expect == 1e-146; MEOW:MGgn0003960 (85%) |species == rat; score == 505; expect == 1e-143; MEOW:ref|XP_214833.1| (83%) |species == Weed; gene == At3g05210; score == 244; expect == 4.1e-65; MEOW:ATgn0015242 (44%) |species == rice; score == 239; expect == 3.7e-63; MEOW:gnl|TIGR|8362.m02984 (42%) |species == Mosquito; gene == LOC14862; score == 235; expect == 1.1e-62; MEOW:AGgn0014862 (46%) |species == Fruitfly; gene == Ercc1; score == 225; expect == 1.5e-59; MEOW:FBgn0028434 (46%) |species == Worm; gene == F10G8.7; score == 134; expect == 5.4e-32; MEOW:CEgn0008161 (32%) } # EOR GENR { RETE|ID 1 HUgn0002068 CHR 1 19 DID 1 LocusLink:2068 MAP 1 19q13.3 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ORG 1 Homo sapiens SYM 1 ERCC2 ID|HUgn0002068 DID|LocusLink:2068 ORG|Homo sapiens RSQ|REFSEQ:NM_000400 RPA|REFPROT:NP_000391 DBA|XM:NM_000400 |NA:L47234 |NA:BC008346 |NA:BT006883 |NA:X52221 |NA:X52222 |NA:none PAC|XP:NP_000391 SYM|ERCC2 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) SYN|EM9 |MAG |XPD FNC|excision repair cross-complementing rodent repair deficiency, complementation group 2 protein |nucleotide-excision repair ; GO:0006289 |hearing ; GO:0007605 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The |protein encoded by this gene is involved in transcription-coupled nucleotide excision |repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. |The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD |subfamily of helicases. Defects in this gene can result in three different disorders, |the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, |and Cockayne syndrome. CHR|19 PRD|malignancy-associated protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99987 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2068[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119112 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000400 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000400 |http://www.geneclinics.org/query?mim=126340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27848 DBL|UNIGENE:Hs.99987 |OMIM:126340 |SNP:2068 |UWCM:119112.html MAP|19q13.3 PHP|Cerebrooculofacioskeletal syndrome |Trichothiodystrophy |Xeroderma pigmentosum, group D ENZ|ATP dependent DNA helicase activity ; GO:0004003 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1451; expect == 0.0; MEOW:ref|XP_218424.2| (97%) |species == Mouse; gene == Ercc2; score == 1449; expect == 0.0; MEOW:MGgn0003961 (97%) |species == Fruitfly; gene == Xpd; score == 1033; expect == 0.0; MEOW:FBgn0015844 (68%) |species == Mosquito; score == 1023; expect == 0.0; MEOW:AGgn0018237 (69%) |species == Weed; gene == At1g03190; score == 846; expect == 0.0; MEOW:ATgn0004409 (55%) |species == Yeast; gene == RAD3; score == 807; expect == 0.0; MEOW:SGgn0000973 (52%) |species == Worm; gene == Y50D7A.2; score == 737; expect == 0.0; MEOW:CEgn0025556 (61%) |species == Human; gene == BRIP1; score == 171; expect == 1.4e-42; MEOW:HUgn0083990 (25%) } # EOR GENR { RETE|ID 1 HUgn0002069 CHR 1 4 DID 1 LocusLink:2069 MAP 1 4q21.21 NAM 1 epiregulin ORG 1 Homo sapiens SYM 1 EREG ID|HUgn0002069 DID|LocusLink:2069 ORG|Homo sapiens RSQ|REFSEQ:NM_001432 RPA|REFPROT:NP_001423 DBA|XM:NM_001432 |NA:D30783 |NA:none PAC|XP:NP_001423 SYM|EREG NAM|epiregulin SYN|ER FNC|epiregulin precursor |EGF receptor signaling pathway ; GO:0007173 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 |angiogenesis ; GO:0001525 REAB|Epiregulin is a member of the epidermal growth factor family. Epiregulin can function |as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most |members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=115263 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2069[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834161 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001432 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001432 DBL|UNIGENE:Hs.115263 |OMIM:602061 |SNP:2069 MAP|4q21.21 ENZ|epidermal growth factor receptor binding ; GO:0005154 |growth factor activity ; GO:0008083 CEL|integral to plasma membrane ; GO:0005887 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Ereg; score == 250; expect == 1.5e-67; MEOW:MGgn0003964 (80%) |species == rat; score == 247; expect == 2.5e-66; MEOW:ref|NP_067721.1| (83%) } # EOR GENR { RETE|ID 1 HUgn0002070 CHR 1 6 DID 1 LocusLink:2070 MAP 1 6q23 NAM 1 eyes absent homolog 4 (Drosophila) ORG 1 Homo sapiens SYM 1 EYA4 ID|HUgn0002070 DID|LocusLink:2070 ORG|Homo sapiens RSQ|REFSEQ:NM_004100 |REFSEQ:NM_172103 |REFSEQ:NM_172104 |REFSEQ:NM_172105 RPA|REFPROT:NP_004091 |REFPROT:NP_742101 |REFPROT:NP_742102 |REFPROT:NP_742103 DBA|XM:NM_004100 |XM:NM_172103 |XM:NM_172104 |XM:NM_172105 |NA:Y17847 |NA:AJ007993 |NA:AJ007994 |NA:BC014193 |NA:BC030588 |NA:BC041063 |NA:Y17114 |NA:none PAC|XP:NP_004091 |XP:NP_742101 |XP:NP_742102 |XP:NP_742103 SYM|EYA4 NAM|eyes absent homolog 4 (Drosophila) SYN|DFNA10 FNC|eyes absent 4 isoform a |eyes absent 4 isoform b |eyes absent 4 isoform c |eyes absent 4 isoform d |vision ; GO:0007601 |embryogenesis and morphogenesis ; GO:0007345 |metabolism ; GO:0008152 |development ; GO:0007275 REAB|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded |protein may act as a transciptional activator and be important for continued function |of the mature organ of Corti. Mutations in this gene are associated with postlingual, |progressive, autosomal dominant hearing loss at the deafness, autosomal dominant |nonsyndromic sensorineural 10 locus. Four transcript variants encoding four distinct |isoforms have been identified for this gene. CHR|6 PRD|deafness, autosomal dominant 10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=102408 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2070[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:700062 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172105 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172105 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=102408 DBL|UNIGENE:Hs.102408 |OMIM:603550 |SNP:2070 |UWCM:9862962.html MAP|6q23 PHP|Deafness, autosomal dominant 10 ENZ|hydrolase activity ; GO:0016787 HG|species == Mouse; gene == Eya4; score == 1079; expect == 0.0; MEOW:MGgn0004151 (90%) |species == rat; score == 1023; expect == 0.0; MEOW:ref|XP_217715.2| (97%) |species == Zfish; gene == eya1; score == 800; expect == 0.0; MEOW:ZFgn0000576 (68%) |species == Human; gene == EYA1; score == 780; expect == 0.0; MEOW:HUgn0002138 (67%) |species == Mosquito; score == 417; expect == 7e-117; MEOW:AGgn0015814 (48%) |species == Fruitfly; gene == eya; score == 409; expect == 1e-114; MEOW:FBgn0000320 (46%) |species == Weed; gene == At2g35320; score == 138; expect == 1.1e-32; MEOW:ATgn0007051 (33%) } # EOR GENR { RETE|ID 1 HUgn0002071 CHR 1 2 DID 1 LocusLink:2071 MAP 1 2q21 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) ORG 1 Homo sapiens SYM 1 ERCC3 ID|HUgn0002071 DID|LocusLink:2071 ORG|Homo sapiens RSQ|REFSEQ:NM_000122 RPA|REFPROT:NP_000113 DBA|XM:NM_000122 |NA:AK091500 |NA:AK095557 |NA:AK127469 |NA:BC008820 |NA:M31899 |NA:none PAC|XP:NP_000113 SYM|ERCC3 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) SYN|XPB |BTF2 |GTF2H |RAD25 |TFIIH FNC|excision repair cross-complementing rodent repair deficiency, complementation group 3 |hearing ; GO:0007605 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription-coupled nucleotide-excision repair ; GO:0006283 REAB|ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair |and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit |of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. CHR|2 PRD|xeroderma pigmentosum, complementation group B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77929 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2071[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119881 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000122 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000122 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77929 |http://www.geneclinics.org/query?mim=133510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.77929 |OMIM:133510 |SNP:2071 |UWCM:119881.html MAP|2q21 PHP|Trichothiodystrophy |Xeroderma pigmentosum, group B ENZ|damaged DNA binding ; GO:0003684 |ATP dependent DNA helicase activity ; GO:0004003 |ATP binding ; GO:0005524 |RNA polymerase II transcription factor activity ; GO:0003702 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1424; expect == 0.0; MEOW:ref|XP_214601.2| (96%) |species == Mouse; gene == Ercc3; score == 1417; expect == 0.0; MEOW:MGgn0003962 (96%) |species == Mosquito; score == 1070; expect == 0.0; MEOW:AGgn0013970 (70%) |species == Fruitfly; gene == hay; score == 1060; expect == 0.0; MEOW:FBgn0001179 (70%) |species == Worm; gene == Y66D12A.15; score == 951; expect == 0.0; MEOW:CEgn0029849 (63%) |species == Yeast; gene == SSL2; score == 770; expect == 0.0; MEOW:SGgn0001405 (55%) |species == Weed; gene == At5g41360; score == 756; expect == 0.0; MEOW:ATgn0021452 (56%) |species == Weed; gene == At5g41370; score == 748; expect == 0.0; MEOW:ATgn0021457 (55%) |species == rice; score == 727; expect == 0.0; MEOW:gnl|TIGR|8350.m04589 (50%) } # EOR GENR { RETE|ID 1 HUgn0002072 CHR 1 16 DID 1 LocusLink:2072 MAP 1 16p13.3-p13.11 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 4 ORG 1 Homo sapiens SYM 1 ERCC4 ID|HUgn0002072 DID|LocusLink:2072 ORG|Homo sapiens RSQ|REFSEQ:NM_005236 RPA|REFPROT:NP_005227 DBA|XM:NM_005236 |NA:L76568 |NA:L77890 |NA:U64315 |NA:none PAC|XP:NP_005227 SYM|ERCC4 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 4 SYN|XPF |RAD1 FNC|excision repair cross-complementing rodent repair deficiency, complementation group 4 |nucleotide-excision repair ; GO:0006289 CHR|16 PRD|xeroderma pigmentosum, complementation group F |excision-repair, complementing defective, in Chinese hamster URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511917 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2072[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119113 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005236 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005236 |http://www.geneclinics.org/query?mim=133520 DBL|UNIGENE:Hs.511917 |OMIM:133520 |SNP:2072 |UWCM:119113.html MAP|16p13.3-p13.11 PHP|Xeroderma pigmentosum, group F ENZ|endodeoxyribonuclease activity ; GO:0004520 |DNA binding ; GO:0003677 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ercc4; score == 1547; expect == 0.0; MEOW:MGgn0013649 (85%) |species == rat; score == 1198; expect == 0.0; MEOW:ref|XP_222534.2| (77%) |species == Mosquito; score == 635; expect == 0.0; MEOW:AGgn0028296 (39%) |species == Fruitfly; gene == mei-9; score == 618; expect == 5e-177; MEOW:FBgn0002707 (40%) |species == Mosquito; score == 588; expect == 6e-168; MEOW:AGgn0016793 (39%) |species == Weed; gene == At5g41150; score == 499; expect == 4e-141; MEOW:ATgn0021421 (36%) |species == Yeast; gene == RAD1; score == 395; expect == 9e-110; MEOW:SGgn0005943 (29%) |species == rice; score == 298; expect == 6.5e-81; MEOW:gnl|TIGR|8360.m00010 (32%) } # EOR GENR { RETE|ID 1 HUgn0002073 CHR 1 13 DID 1 LocusLink:2073 MAP 1 13q22 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) ORG 1 Homo sapiens SYM 1 ERCC5 ID|HUgn0002073 DID|LocusLink:2073 ORG|Homo sapiens RSQ|REFSEQ:NM_000123 RPA|REFPROT:NP_000114 DBA|XM:NM_000123 |NA:X71341 |NA:AF462447 |NA:BC031522 |NA:BX647399 |NA:D16305 |NA:L20046 |NA:X69978 |NA:none PAC|XP:NP_000114 SYM|ERCC5 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) SYN|XPG |UVDR |XPGC |ERCM2 FNC|XPG-complementing protein |hearing ; GO:0007605 |transcription-coupled nucleotide-excision repair ; GO:0006283 REAB|Excision repair cross-complementing rodent repair deficiency, complementation group |5 (xeroderma pigmentosum, complementation group G is involved in excision repair |of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized |by severe growth defects, mental retardation, and cachexia. CHR|13 PRD|xeroderma pigmentosum complementation group G |excision-repair, complementing defective, in Chinese hamster URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=258429 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2073[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120515 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000123 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000123 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=258429 |http://www.geneclinics.org/query?mim=133530 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27851 DBL|UNIGENE:Hs.258429 |OMIM:133530 |SNP:2073 |UWCM:120515.html MAP|13q22 PHP|Cerebrooculofacioskeletal syndrome |Xeroderma pigmentosum, group G ENZ|endodeoxyribonuclease activity ; GO:0004520 |single-stranded DNA binding ; GO:0003697 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Ercc5; score == 1342; expect == 0.0; MEOW:MGgn0013106 (67%) |species == rat; score == 1277; expect == 0.0; MEOW:ref|XP_217387.2| (64%) |species == Fruitfly; gene == mus201; score == 256; expect == 7.6e-68; MEOW:FBgn0002887 (41%) |species == Mosquito; gene == LOC21368; score == 243; expect == 6.1e-64; MEOW:AGgn0021368 (31%) |species == Weed; gene == At3g28030; score == 227; expect == 3.4e-59; MEOW:ATgn0013821 (33%) |species == Yeast; gene == RAD2; score == 191; expect == 2.4e-48; MEOW:SGgn0003490 (30%) |species == rice; score == 165; expect == 2.1e-40; MEOW:gnl|TIGR|8360.m00922 (23%) } # EOR GENR { RETE|ID 1 HUgn0002074 CHR 1 10 DID 1 LocusLink:2074 MAP 1 10q11 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 6 ORG 1 Homo sapiens SYM 1 ERCC6 ID|HUgn0002074 DID|LocusLink:2074 ORG|Homo sapiens RSQ|REFSEQ:NM_000124 RPA|REFPROT:NP_000115 DBA|XM:NM_000124 |NA:L04791 |NA:none PAC|XP:NP_000115 SYM|ERCC6 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 6 SYN|CSB |CKN2 |COFS |RAD26 FNC|excision repair cross-complementing rodent repair deficiency, complementation group 6 |hearing ; GO:0007605 |regulation of transcription, DNA-dependent ; GO:0006355 |DNA repair ; GO:0006281 |transcription from Pol II promoter ; GO:0006366 REAB|The ERCC6 protein is a DNA-binding protein important in transcription-coupled excision |repair. The protein has ATP-stimulated ATPase activity; there are contradictory |publications reporting presence or absence of helicase activity. The protein appears |to interact with several transcription and excision repair proteins, and may promote |complex formation at repair sites. CHR|10 PRD|Rad26 (yeast) homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99924 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2074[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119882 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000124 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000124 |http://www.geneclinics.org/query?mim=133540 DBL|UNIGENE:Hs.99924 |OMIM:133540 |SNP:2074 |UWCM:119882.html MAP|10q11 PHP|Cerebrooculofacioskeletal syndrome |Cockayne syndrome-2, type B |De Sanctis-Cacchione syndrome ENZ|DNA helicase activity ; GO:0003678 |ATP binding ; GO:0005524 |protein binding ; GO:0005515 |RNA polymerase II transcription factor activity ; GO:0003702 |DNA binding ; GO:0003677 |ATP dependent helicase activity ; GO:0008026 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1950; expect == 0.0; MEOW:ref|XP_224627.2| (73%) |species == rice; score == 605; expect == 1e-172; MEOW:gnl|TIGR|8350.m00031 (52%) |species == Yeast; gene == RAD26; score == 604; expect == 1e-172; MEOW:SGgn0003796 (50%) |species == Weed; gene == At2g18760; score == 596; expect == 2e-170; MEOW:ATgn0008711 (45%) |species == Mouse; gene == C130058G22Rik; score == 468; expect == 1e-131; MEOW:MGgn0042840 (76%) |species == Worm; gene == csb-1; score == 365; expect == 7e-101; MEOW:CEgn0011687 (35%) |species == Mosquito; gene == LOC8413; score == 308; expect == 8.5e-84; MEOW:AGgn0008413 (35%) |species == Fruitfly; gene == Hel89B; score == 294; expect == 1.8e-79; MEOW:FBgn0022787 (35%) |species == Human; gene == BTAF1; score == 293; expect == 6.7e-79; MEOW:HUgn0009044 (35%) |species == Human; gene == SMARCA5; score == 285; expect == 1.4e-76; MEOW:HUgn0008467 (36%) |species == Mosquito; gene == LOC16886; score == 282; expect == 8.6e-76; MEOW:AGgn0016886 (37%) |species == Fruitfly; gene == Iswi; score == 279; expect == 4.5e-75; MEOW:FBgn0011604 (35%) |species == Human; gene == RAD54L; score == 276; expect == 5.0e-74; MEOW:HUgn0008438 (35%) |species == Human; gene == RAD54B; score == 274; expect == 1.5e-73; MEOW:HUgn0025788 (34%) |species == Human; gene == SMARCA1; score == 272; expect == 9.4e-73; MEOW:HUgn0006594 (34%) |species == Mosquito; score == 271; expect == 1.2e-72; MEOW:AGgn0026244 (33%) |species == Mosquito; score == 268; expect == 9.8e-72; MEOW:AGgn0006590 (33%) |species == Mosquito; score == 268; expect == 9.8e-72; MEOW:AGgn0013716 (32%) |species == Fruitfly; gene == brm; score == 263; expect == 4.3e-70; MEOW:FBgn0000212 (32%) |species == Fruitfly; gene == Chd1; score == 263; expect == 4.3e-70; MEOW:FBgn0016132 (35%) |species == Human; gene == CHD2; score == 261; expect == 2.2e-69; MEOW:HUgn0001106 (34%) |species == Human; gene == CHD5; score == 260; expect == 6.3e-69; MEOW:HUgn0026038 (33%) |species == Fruitfly; gene == okr; score == 258; expect == 1.1e-68; MEOW:FBgn0002989 (31%) |species == Human; gene == CHD3; score == 258; expect == 1.8e-68; MEOW:HUgn0001107 (33%) |species == Mosquito; gene == LOC8665; score == 256; expect == 3.0e-68; MEOW:AGgn0008665 (33%) |species == Human; gene == CHD1; score == 256; expect == 5.4e-68; MEOW:HUgn0001105 (33%) |species == Mosquito; gene == LOC11045; score == 254; expect == 1.9e-67; MEOW:AGgn0011045 (33%) |species == Fruitfly; gene == Mi-2; score == 254; expect == 1.5e-67; MEOW:FBgn0013591 (33%) |species == Fruitfly; gene == Chd3; score == 253; expect == 3.4e-67; MEOW:FBgn0023395 (32%) |species == Human; gene == LOC375748; score == 246; expect == 3.0e-65; MEOW:HUgn0375748 (32%) |species == chimp; score == 138; expect == 3.6e-32; MEOW:sp|BAC81111|BAC81111 (38%) } # EOR GENR { RETE|ID 1 HUgn0002075 DID 1 LocusLink:2075 NAM 1 excision repair cross-complementing rodent repair deficiency, complementation group 8 ORG 1 Homo sapiens SYM 1 ERCC8 ID|HUgn0002075 DID|LocusLink:2075 ORG|Homo sapiens SYM|ERCC8 NAM|excision repair cross-complementing rodent repair deficiency, complementation group 8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:451944 } # EOR GENR { RETE|ID 1 HUgn0002076 CHR 1 3 DID 1 LocusLink:2076 MAP 1 3 NAM 1 excision repair complementing defective repair in mouse cells ORG 1 Homo sapiens SYM 1 ERCM1 ID|HUgn0002076 DID|LocusLink:2076 ORG|Homo sapiens SYM|ERCM1 NAM|excision repair complementing defective repair in mouse cells CHR|3 PRD|Excision-repair complementing defective repair in mouse cells DBL|OMIM:133535 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119883 } # EOR GENR { RETE|ID 1 HUgn0002077 CHR 1 19 DID 1 LocusLink:2077 MAP 1 19q13 NAM 1 Ets2 repressor factor ORG 1 Homo sapiens SYM 1 ERF ID|HUgn0002077 DID|LocusLink:2077 ORG|Homo sapiens RSQ|REFSEQ:NM_006494 RPA|REFPROT:NP_006485 DBA|XM:NM_006494 |NA:AC006486 |NA:U58535 |NA:BC022231 |NA:U15655 |NA:none PAC|XP:NP_006485 SYM|ERF NAM|Ets2 repressor factor SYN|PE-2 FNC|Ets2 repressor factor |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 |regulation of transcription from Pol II promoter ; GO:0006357 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440332 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2077[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006494 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006494 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440332 DBL|UNIGENE:Hs.440332 |SNP:2077 MAP|19q13 ENZ|ligand-regulated transcription factor activity ; GO:0003706 |transcription co-repressor activity ; GO:0003714 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Erf; score == 805; expect == 0.0; MEOW:MGgn0003965 (95%) |species == Mouse; gene == Etv3; score == 366; expect == 2e-101; MEOW:MGgn0008905 (44%) |species == rat; score == 247; expect == 9.9e-66; MEOW:ref|XP_227482.2| (73%) |species == Human; gene == LOC376527; score == 246; expect == 1.8e-65; MEOW:HUgn0376527 (56%) |species == rat; score == 245; expect == 7.0e-65; MEOW:ref|XP_218458.2| (57%) |species == Human; gene == ETV3; score == 219; expect == 3.1e-57; MEOW:HUgn0002117 (85%) } # EOR GENR { RETE|ID 1 HUgn0002078 CHR 1 21 DID 1 LocusLink:2078 MAP 1 21q22.3 NAM 1 v-ets erythroblastosis virus E26 oncogene like (avian) ORG 1 Homo sapiens SYM 1 ERG ID|HUgn0002078 DID|LocusLink:2078 ORG|Homo sapiens RSQ|REFSEQ:NM_004449 |REFSEQ:NM_182918 RPA|REFPROT:NP_004440 |REFPROT:NP_891548 DBA|XM:NM_004449 |NA:M17254 |NA:BC040168 |NA:M21535 |NA:S72621 |NA:none PAC|XP:NP_004440 SYM|ERG NAM|v-ets erythroblastosis virus E26 oncogene like (avian) FNC|v-ets erythroblastosis virus E26 oncogene like isoform 1 |v-ets erythroblastosis virus E26 oncogene like isoform 2 CHR|21 PRD|v-ets avian erythroblastosis virus E26 oncogene related |transcriptional regulator ERG (transforming protein ERG) |Erythroblastosis virus E26, avian, (v-ets) oncogene related URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=45514 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2078[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119884 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182918 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182918 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=45514 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27858 DBL|UNIGENE:Hs.45514 |OMIM:165080 |SNP:2078 MAP|21q22.3 HG|species == Mouse; gene == Erg; score == 912; expect == 0.0; MEOW:MGgn0003966 (92%) |species == rat; score == 912; expect == 0.0; MEOW:ref|NP_596888.1| (96%) |species == Human; gene == FLI1; score == 611; expect == 2e-175; MEOW:HUgn0002313 (66%) |species == Zfish; gene == fli1; score == 543; expect == 5e-155; MEOW:ZFgn0000142 (65%) |species == Fruitfly; gene == Ets65A; score == 240; expect == 1.9e-63; MEOW:FBgn0005658 (63%) |species == Mosquito; gene == LOC18519; score == 211; expect == 1.3e-55; MEOW:AGgn0018519 (63%) |species == Fruitfly; gene == Ets21C; score == 203; expect == 1.5e-52; MEOW:FBgn0005660 (43%) |species == Worm; gene == T08H4.3a; score == 201; expect == 4.2e-52; MEOW:CEgn0032484 (80%) |species == Worm; gene == T08H4.3b; score == 201; expect == 1.5e-52; MEOW:CEgn0032485 (80%) |species == Mosquito; score == 188; expect == 3.0e-48; MEOW:AGgn0011131 (79%) |species == Worm; gene == C42D8.4; score == 179; expect == 7.1e-46; MEOW:CEgn0006386 (78%) } # EOR GENR { RETE|ID 1 HUgn0002079 CHR 1 14 DID 1 LocusLink:2079 MAP 1 14q24.1 NAM 1 enhancer of rudimentary homolog (Drosophila) ORG 1 Homo sapiens SYM 1 ERH ID|HUgn0002079 DID|LocusLink:2079 ORG|Homo sapiens RSQ|REFSEQ:NM_004450 RPA|REFPROT:NP_004441 DBA|XM:NM_004450 |NA:BC014301 |NA:D85758 |NA:U66871 |NA:none PAC|XP:NP_004441 SYM|ERH NAM|enhancer of rudimentary homolog (Drosophila) SYN|DROER FNC|enhancer of rudimentary homolog |pyrimidine metabolism ; GO:0006205 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |regulation of cell cycle ; GO:0000074 CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433413 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2079[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642261 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004450 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004450 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433413 DBL|UNIGENE:Hs.433413 |OMIM:601191 |SNP:2079 MAP|14q24.1 ENZ|molecular_function unknown ; GO:0005554 HG|species == Mouse; gene == Erh; score == 218; expect == 2.0e-58; MEOW:MGgn0003967 (100%) |species == Zfish; gene == e(r); score == 218; expect == 3.1e-59; MEOW:ZFgn0000377 (99%) |species == rat; score == 218; expect == 1.8e-57; MEOW:ref|XP_216744.2| (100%) |species == Fruitfly; gene == e(r); score == 172; expect == 1.1e-44; MEOW:FBgn0011586 (79%) |species == Mosquito; gene == LOC19381; score == 169; expect == 1.2e-43; MEOW:AGgn0019381 (78%) } # EOR GENR { RETE|ID 1 HUgn0002081 CHR 1 16 DID 1 LocusLink:2081 MAP 1 16p12 NAM 1 ER to nucleus signalling 1 ORG 1 Homo sapiens SYM 1 ERN1 ID|HUgn0002081 DID|LocusLink:2081 ORG|Homo sapiens RSQ|REFSEQ:NM_001433 RPA|REFPROT:NP_001424 DBA|XM:NM_001433 |NA:AF059198 PAC|XP:NP_001424 SYM|ERN1 NAM|ER to nucleus signalling 1 SYN|IRE1 |IRE1P FNC|ER to nucleus signalling 1 |electron transport ; GO:0006118 |protein amino acid phosphorylation ; GO:0006468 REAB|ERN1 encodes the ER to nucleus signalling 1 protein, a humuan homologue of the yeast |Ire1 gene product. The ERN1 protein is important in altering gene expression as |a response to endoplasmic reticulum based stress signals. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=137575 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2081[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864268 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001433 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001433 DBL|UNIGENE:Hs.137575 |OMIM:604033 |SNP:2081 MAP|16p12 ENZ|endoribonuclease activity ; GO:0004521 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |DNA binding ; GO:0003677 |transferase activity ; GO:0016740 CEL|endoplasmic reticulum membrane ; GO:0005789 |nucleus ; GO:0005634 HG|species == Mouse; gene == Ern1; score == 1671; expect == 0.0; MEOW:MGgn0028185 (92%) |species == Human; gene == ERN2; score == 846; expect == 0.0; MEOW:HUgn0010595 (49%) |species == rat; score == 805; expect == 0.0; MEOW:ref|XP_344960.1| (47%) |species == Human; gene == LOC374284; score == 727; expect == 0.0; MEOW:HUgn0374284 (48%) |species == Mosquito; score == 452; expect == 5e-127; MEOW:AGgn0029215 (56%) |species == Mosquito; score == 449; expect == 3e-126; MEOW:AGgn0011285 (54%) |species == Worm; gene == ire-1; score == 441; expect == 1e-123; MEOW:CEgn0006318 (54%) |species == Fruitfly; gene == ire-1; score == 441; expect == 8e-124; MEOW:FBgn0038736 (53%) |species == Yeast; gene == IRE1; score == 323; expect == 1.1e-88; MEOW:SGgn0001121 (42%) |species == Weed; gene == At2g17520; score == 266; expect == 3.6e-71; MEOW:ATgn0008047 (34%) |species == Weed; gene == At5g24360; score == 251; expect == 1.3e-66; MEOW:ATgn0023297 (34%) |species == rice; score == 230; expect == 2.3e-60; MEOW:gnl|TIGR|8355.m02650 (32%) } # EOR GENR { RETE|ID 1 HUgn0002082 CHR 1 1 DID 1 LocusLink:2082 MAP 1 1pter-p36 NAM 1 endogenous retroviral pol gene-like sequence 1 (clone HLM2) ORG 1 Homo sapiens SYM 1 ERPL1 ID|HUgn0002082 DID|LocusLink:2082 ORG|Homo sapiens DBA|NA:M11348 SYM|ERPL1 NAM|endogenous retroviral pol gene-like sequence 1 (clone HLM2) SYN|HLM2 CHR|1 PRD|Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2) DBL|OMIM:131190 MAP|1pter-p36 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119114 ENZ|zinc ion binding ; GO:0008270 |DNA binding ; GO:0003677 |molecular_function unknown ; GO:0005554 |integrase activity ; GO:0008907 FNC|DNA integration ; GO:0015074 |DNA recombination ; GO:0006310 |biological_process unknown ; GO:0000004 CEL|cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0002083 CHR 1 5 DID 1 LocusLink:2083 MAP 1 5q33.2 NAM 1 endogenous retroviral pol gene-like sequence 2 ORG 1 Homo sapiens SYM 1 ERPL2 ID|HUgn0002083 DID|LocusLink:2083 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC112175 SYM|ERPL2 NAM|endogenous retroviral pol gene-like sequence 2 SYN|HLM-25 CHR|5 DBL|OMIM:131180 MAP|5q33.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119885 } # EOR GENR { RETE|ID 1 HUgn0002085 CHR 1 18 DID 1 LocusLink:2085 MAP 1 18p11.3-p11.21 NAM 1 endogenous retroviral sequence 1 ORG 1 Homo sapiens SYM 1 ERV1 ID|HUgn0002085 DID|LocusLink:2085 ORG|Homo sapiens DBA|NA:K02919 SYM|ERV1 NAM|endogenous retroviral sequence 1 CHR|18 PRD|Oncogene ERV1; endogenous retrovirus-1 DBL|OMIM:131150 MAP|18p11.3-p11.21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119115 } # EOR GENR { RETE|ID 1 HUgn0002086 CHR 1 7 DID 1 LocusLink:2086 MAP 1 7p12-q11 NAM 1 endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9) ORG 1 Homo sapiens SYM 1 ERV3 ID|HUgn0002086 DID|LocusLink:2086 ORG|Homo sapiens DBA|NA:K02271 |NA:M12140 SYM|ERV3 NAM|endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9) SYN|HERV-R CHR|7 PRD|H-PLK DBL|OMIM:131170 MAP|7p12-q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119116 } # EOR GENR { RETE|ID 1 HUgn0002087 CHR 1 X DID 1 LocusLink:2087 MAP 1 Xq28 NAM 1 endogenous retroviral sequence K(C4), 2 ORG 1 Homo sapiens SYM 1 ERVK2 ID|HUgn0002087 DID|LocusLink:2087 ORG|Homo sapiens DBA|NA:U87589 |NA:X74612 SYM|ERVK2 NAM|endogenous retroviral sequence K(C4), 2 SYN|HERV-K CHR|X MAP|Xq28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9806354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U87589 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U87589 ENZ|RNA binding ; GO:0003723 |RNA-directed DNA polymerase activity ; GO:0003964 |transferase activity ; GO:0016740 FNC|RNA dependent DNA replication ; GO:0006278 } # EOR GENR { RETE|ID 1 HUgn0002088 CHR 1 X DID 1 LocusLink:2088 MAP 1 Xq28 NAM 1 endogenous retroviral sequence K(C4), 3 ORG 1 Homo sapiens SYM 1 ERVK3 ID|HUgn0002088 DID|LocusLink:2088 ORG|Homo sapiens DBA|NA:X74613 SYM|ERVK3 NAM|endogenous retroviral sequence K(C4), 3 SYN|HERV-K CHR|X MAP|Xq28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9806358 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=X74613 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=X74613 } # EOR GENR { RETE|ID 1 HUgn0002089 CHR 1 14 DID 1 LocusLink:2089 MAP 1 14 NAM 1 endogenous retroviral sequence, truncated 1 (band T1, 26.0kb) ORG 1 Homo sapiens SYM 1 ERVT1 ID|HUgn0002089 DID|LocusLink:2089 ORG|Homo sapiens SYM|ERVT1 NAM|endogenous retroviral sequence, truncated 1 (band T1, 26.0kb) SYN|TRV1 CHR|14 DBL|OMIM:190940 MAP|14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135688 } # EOR GENR { RETE|ID 1 HUgn0002090 CHR 1 11 DID 1 LocusLink:2090 MAP 1 11q13-q22 NAM 1 esterase A4 ORG 1 Homo sapiens SYM 1 ESA4 ID|HUgn0002090 DID|LocusLink:2090 ORG|Homo sapiens SYM|ESA4 NAM|esterase A4 CHR|11 PRD|Esterase-A4 DBL|OMIM:133220 MAP|11q13-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119117 } # EOR GENR { RETE|ID 1 HUgn0002091 CHR 1 19 DID 1 LocusLink:2091 MAP 1 19q13.1 NAM 1 fibrillarin ORG 1 Homo sapiens SYM 1 FBL ID|HUgn0002091 DID|LocusLink:2091 ORG|Homo sapiens RSQ|REFSEQ:NM_001436 RPA|REFPROT:NP_001427 DBA|XM:NM_001436 |NA:AC005393 |NA:AC006950 |NA:BC015218 |NA:BC019260 |NA:BC019609 |NA:BT006830 |NA:M59849 |NA:X56597 |NA:none PAC|XP:NP_001427 SYM|FBL NAM|fibrillarin SYN|FIB |FLRN |RNU3IP1 FNC|fibrillarin |rRNA processing ; GO:0006364 REAB|This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) |particle thought to participate in the first step in processing preribosomal RNA. |It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the |dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an |N-terminal repetitive domain that is rich in glycine and arginine residues, like |fibrillarins in other species. Its central region resembles an RNA-binding domain |and contains an RNP consensus sequence. Antisera from approximately 8% of humans |with the autoimmune disease scleroderma recognize fibrillarin. CHR|19 PRD|34-kD nucleolar scleroderma antigen |RNA, U3 small nucleolar interacting protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99853 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2091[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127522 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001436 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001436 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99853 DBL|UNIGENE:Hs.99853 |OMIM:134795 |SNP:2091 MAP|19q13.1 ENZ|RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 |ribonucleoprotein complex ; GO:0030529 HG|species == Mouse; gene == Fbl; score == 485; expect == 1e-137; MEOW:MGgn0004214 (100%) |species == rat; score == 483; expect == 5e-137; MEOW:ref|XP_214836.2| (99%) |species == rat; score == 418; expect == 2e-117; MEOW:ref|XP_343875.1| (86%) |species == Mosquito; score == 412; expect == 9e-116; MEOW:AGgn0015622 (81%) |species == Weed; gene == Fib1; score == 384; expect == 3e-107; MEOW:ATgn0025178 (78%) |species == Weed; gene == At4g25630; score == 381; expect == 2e-106; MEOW:ATgn0019895 (78%) |species == Worm; gene == fib-1; score == 374; expect == 2e-104; MEOW:CEgn0000669 (75%) |species == rice; score == 371; expect == 2e-103; MEOW:gnl|TIGR|8351.m05540 (75%) |species == Yeast; gene == NOP1; score == 350; expect == 2.2e-97; MEOW:SGgn0002172 (70%) |species == rice; score == 346; expect == 1.9e-95; MEOW:gnl|TIGR|8353.m00692 (63%) |species == Human; gene == LOC345630; score == 323; expect == 4.3e-89; MEOW:HUgn0345630 (91%) |species == Fruitfly; gene == CG10909; score == 203; expect == 1.7e-52; MEOW:FBgn0038090 (44%) } # EOR GENR { RETE|ID 1 HUgn0002092 CHR 1 11 DID 1 LocusLink:2092 MAP 1 11 NAM 1 endogenous retroviral sequence, truncated 2 (band T2, 21.0kb) ORG 1 Homo sapiens SYM 1 ERVT2 ID|HUgn0002092 DID|LocusLink:2092 ORG|Homo sapiens SYM|ERVT2 NAM|endogenous retroviral sequence, truncated 2 (band T2, 21.0kb) SYN|TRV2 CHR|11 DBL|OMIM:190950 MAP|11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120461 } # EOR GENR { RETE|ID 1 HUgn0002093 CHR 1 12 DID 1 LocusLink:2093 MAP 1 12 NAM 1 endogenous retroviral sequence, truncated 3 (band T3, 17.8kb) ORG 1 Homo sapiens SYM 1 ERVT3 ID|HUgn0002093 DID|LocusLink:2093 ORG|Homo sapiens SYM|ERVT3 NAM|endogenous retroviral sequence, truncated 3 (band T3, 17.8kb) SYN|TRV3 CHR|12 DBL|OMIM:190960 MAP|12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120462 } # EOR GENR { RETE|ID 1 HUgn0002094 CHR 1 3 DID 1 LocusLink:2094 MAP 1 3 NAM 1 endogenous retroviral sequence, truncated 4 (band T4, 14.9kb) ORG 1 Homo sapiens SYM 1 ERVT4 ID|HUgn0002094 DID|LocusLink:2094 ORG|Homo sapiens SYM|ERVT4 NAM|endogenous retroviral sequence, truncated 4 (band T4, 14.9kb) SYN|TRV4 CHR|3 DBL|OMIM:190970 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120463 } # EOR GENR { RETE|ID 1 HUgn0002095 CHR 1 13 DID 1 LocusLink:2095 MAP 1 13q22 NAM 1 endogenous retroviral sequence, truncated 5 ORG 1 Homo sapiens SYM 1 ERVT5 ID|HUgn0002095 DID|LocusLink:2095 ORG|Homo sapiens SYM|ERVT5 NAM|endogenous retroviral sequence, truncated 5 SYN|TRV5 CHR|13 DBL|OMIM:190980 MAP|13q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120464 } # EOR GENR { RETE|ID 1 HUgn0002096 CHR 1 14 DID 1 LocusLink:2096 MAP 1 14 NAM 1 esterase activator ORG 1 Homo sapiens SYM 1 ESAT ID|HUgn0002096 DID|LocusLink:2096 ORG|Homo sapiens SYM|ESAT NAM|esterase activator CHR|14 DBL|OMIM:133250 MAP|14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119118 } # EOR GENR { RETE|ID 1 HUgn0002097 CHR 1 16 DID 1 LocusLink:2097 MAP 1 16 NAM 1 esterase B3 ORG 1 Homo sapiens SYM 1 ESB3 ID|HUgn0002097 DID|LocusLink:2097 ORG|Homo sapiens SYM|ESB3 NAM|esterase B3 CHR|16 PRD|Esterase-B3 DBL|OMIM:133290 MAP|16 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119119 } # EOR GENR { RETE|ID 1 HUgn0002098 CHR 1 13 DID 1 LocusLink:2098 MAP 1 13q14.1-q14.2 NAM 1 esterase D/formylglutathione hydrolase ORG 1 Homo sapiens SYM 1 ESD ID|HUgn0002098 DID|LocusLink:2098 ORG|Homo sapiens RSQ|REFSEQ:NM_001984 RPA|REFPROT:NP_001975 DBA|XM:XM_166266 |NA:AF052509 |NA:AF112219 |NA:AK098540 |NA:BC001169 |NA:M13450 |NA:none PAC|XP:XP_166266 SYM|ESD NAM|esterase D/formylglutathione hydrolase FNC|esterase D/formylglutathione hydrolase |biological_process unknown ; GO:0000004 CHR|13 PRD|Esterase D; S-formylglutathione hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=432491 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2098[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119886 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001984 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001984 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=432491 DBL|UNIGENE:Hs.432491 |OMIM:133280 |SNP:2098 ENZ|EC:3.1.1.1 |serine esterase activity ; GO:0004759 |hydrolase activity ; GO:0016787 MAP|13q14.1-q14.2 CEL|cytoplasmic vesicle ; GO:0016023 HG|species == Mouse; gene == Es10; score == 547; expect == 1e-156; MEOW:MGgn0003975 (89%) |species == rat; score == 543; expect == 5e-155; MEOW:ref|XP_214241.2| (88%) |species == Mosquito; gene == LOC10587; score == 378; expect == 1e-105; MEOW:AGgn0010587 (60%) |species == Fruitfly; gene == CG4390; score == 356; expect == 4.2e-99; MEOW:FBgn0038771 (57%) |species == Weed; gene == At2g41530; score == 321; expect == 2.5e-88; MEOW:ATgn0007507 (55%) |species == ecoli; score == 292; expect == 1.2e-79; MEOW:ref|NP_416659.1| (51%) |species == ecoli; score == 272; expect == 1.7e-73; MEOW:ref|NP_414889.1| (47%) |species == Yeast; gene == YJL068C; score == 199; expect == 3.2e-52; MEOW:SGgn0003604 (38%) |species == rice; score == 189; expect == 4.3e-48; MEOW:gnl|TIGR|8350.m06685 (55%) } # EOR GENR { RETE|ID 1 HUgn0002099 CHR 1 6 DID 1 LocusLink:2099 MAP 1 6q25.1 NAM 1 estrogen receptor 1 ORG 1 Homo sapiens SYM 1 ESR1 ID|HUgn0002099 DID|LocusLink:2099 ORG|Homo sapiens RSQ|REFSEQ:NM_000125 RPA|REFPROT:NP_000116 DBA|XM:NM_000125 |NA:AF258449 |NA:AF258450 |NA:AF258451 |NA:M12674 |NA:U47678 |NA:X03635 |NA:none PAC|XP:NP_000116 SYM|ESR1 NAM|estrogen receptor 1 SYN|ER |ESR |Era |ESRA |NR3A1 FNC|estrogen receptor 1 REAB|The estrogen receptor (ESR) is a ligand-activated transcription factor composed of |several domains important for hormone binding, DNA binding, and activation of transcription.[supplied |by OMIM] CHR|6 PRD|estrogen receptor 1 (alpha) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1657 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2099[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119120 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000125 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000125 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA156 DBL|UNIGENE:Hs.1657 |OMIM:133430 |SNP:2099 |UWCM:119120.html MAP|6q25.1 PHP|Breast cancer |Estrogen resistance |HDL response to hormone replacement, augmented HG|species == Mouse; gene == Esr1; score == 949; expect == 0.0; MEOW:MGgn0013379 (88%) |species == Human; gene == ESR2; score == 458; expect == 3e-129; MEOW:HUgn0002100 (48%) |species == Zfish; gene == esr1; score == 457; expect == 7e-129; MEOW:ZFgn0002618 (53%) |species == Zfish; gene == esr2a; score == 454; expect == 4e-128; MEOW:ZFgn0002638 (56%) |species == rat; score == 451; expect == 5e-127; MEOW:ref|NP_036886.1| (54%) |species == Zfish; gene == esr2b; score == 435; expect == 3e-122; MEOW:ZFgn0011932 (58%) } # EOR GENR { RETE|ID 1 HUgn0002100 CHR 1 14 DID 1 LocusLink:2100 MAP 1 14q NAM 1 estrogen receptor 2 (ER beta) ORG 1 Homo sapiens SYM 1 ESR2 ID|HUgn0002100 DID|LocusLink:2100 ORG|Homo sapiens RSQ|REFSEQ:NM_001437 RPA|REFPROT:NP_001428 DBA|XM:NM_001437 |NA:AB006589 |NA:AB006590 |NA:AF051427 |NA:AF051428 |NA:AF060555 |NA:AF061054 |NA:AF074599 |NA:AF124790 |NA:BC024181 |NA:X99101 |NA:none PAC|XP:NP_001428 SYM|ESR2 NAM|estrogen receptor 2 (ER beta) SYN|Erb |ESRB |NR3A2 |ER-BETA |ESR-BETA FNC|estrogen receptor 2 (ER beta) |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 |negative regulation of cell growth ; GO:0030308 |estrogen receptor signaling pathway ; GO:0030520 REAB|Estrogen receptor-beta (ESR2) is a member of the superfamily of nuclear receptors, |which can transduce extracellular signals into transcriptional responses.[supplied |by OMIM] CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443150 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2100[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4548088 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001437 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001437 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443150 DBL|UNIGENE:Hs.443150 |OMIM:601663 |SNP:2100 MAP|14q ENZ|steroid binding ; GO:0005496 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 |receptor antagonist activity ; GO:0048019 |estrogen receptor activity ; GO:0030284 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Esr2; score == 887; expect == 0.0; MEOW:MGgn0004080 (88%) |species == rat; score == 887; expect == 0.0; MEOW:ref|NP_036886.1| (88%) |species == Zfish; gene == esr2a; score == 552; expect == 8e-159; MEOW:ZFgn0002638 (55%) |species == Zfish; gene == esr2b; score == 523; expect == 4e-150; MEOW:ZFgn0011932 (55%) |species == Human; gene == ESR1; score == 458; expect == 3e-129; MEOW:HUgn0002099 (48%) |species == Zfish; gene == esr1; score == 445; expect == 1e-126; MEOW:ZFgn0002618 (50%) |species == chimp; score == 158; expect == 1.5e-40; MEOW:sp|O97775|ANDR_PANTR (32%) |species == Mosquito; score == 139; expect == 2.9e-33; MEOW:AGgn0017626 (26%) } # EOR GENR { RETE|ID 1 HUgn0002101 CHR 1 11 DID 1 LocusLink:2101 MAP 1 11q13 NAM 1 estrogen-related receptor alpha ORG 1 Homo sapiens SYM 1 ESRRA ID|HUgn0002101 DID|LocusLink:2101 ORG|Homo sapiens RSQ|REFSEQ:NM_004451 RPA|REFPROT:NP_004442 DBA|XM:NM_004451 |NA:BC007915 |NA:BC011528 |NA:BC033701 |NA:L38487 |NA:X51416 |NA:none PAC|XP:NP_004442 SYM|ESRRA NAM|estrogen-related receptor alpha SYN|ERR1 |ERRa |ESRL1 |NR3B1 |ERRalpha FNC|estrogen-related receptor alpha |regulation of transcription, DNA-dependent ; GO:0006355 REAB|The protein encoded by this gene is a nuclear receptor that is closely related to |the estrogen receptor. This protein acts as a site-specific transcription regulator |and has been also shown to interact with estrogen and the transcripton factor TFIIB |by direct protein-protein contact. The binding and regulatory activities of this |protein have been demonstrated in the regulation of a variety of genes including |lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and |thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome |13q12.1. CHR|11 PRD|estrogen receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=110849 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2101[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6054073 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004451 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004451 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=110849 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27887 DBL|UNIGENE:Hs.110849 |OMIM:601998 |SNP:2101 MAP|11q13 ENZ|steroid hormone receptor activity ; GO:0003707 |steroid binding ; GO:0005496 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Esrra; score == 546; expect == 7e-156; MEOW:MGgn0004016 (93%) |species == rat; score == 505; expect == 2e-143; MEOW:ref|XP_215174.2| (96%) |species == Mouse; gene == Esrrg; score == 475; expect == 3e-134; MEOW:MGgn0004018 (66%) |species == Human; gene == ESRRG; score == 463; expect == 7e-131; MEOW:HUgn0002104 (64%) |species == Human; gene == ESRRB; score == 449; expect == 2e-126; MEOW:HUgn0002103 (62%) |species == Mosquito; gene == LOC11619; score == 273; expect == 1.6e-73; MEOW:AGgn0011619 (42%) |species == Fruitfly; gene == ERR; score == 241; expect == 5.2e-64; MEOW:FBgn0035849 (43%) |species == Zfish; gene == esr2a; score == 231; expect == 1.0e-60; MEOW:ZFgn0002638 (39%) |species == Zfish; gene == esr2b; score == 218; expect == 5.8e-57; MEOW:ZFgn0011932 (38%) |species == chimp; score == 140; expect == 4.3e-33; MEOW:sp|O97775|ANDR_PANTR (32%) } # EOR GENR { RETE|ID 1 HUgn0002103 CHR 1 14 DID 1 LocusLink:2103 MAP 1 14q24.3 NAM 1 estrogen-related receptor beta ORG 1 Homo sapiens SYM 1 ESRRB ID|HUgn0002103 DID|LocusLink:2103 ORG|Homo sapiens RSQ|REFSEQ:NM_004452 RPA|REFPROT:NP_004443 DBA|XM:NM_004452 |NA:AC008050 |NA:AC016543 |NA:X51417 |NA:none PAC|XP:NP_004443 SYM|ESRRB NAM|estrogen-related receptor beta SYN|ERR2 |ERRb |ESRL2 |NR3B2 |ERRbeta |ERRbeta-2 FNC|estrogen-related receptor beta |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes a protein with similarity to the estrogen receptor. Its function |is unknown; however, a similar protein in mouse plays an essential role in placental |development. CHR|14 PRD|nuclear receptor ERRB2 |estrogen receptor-like 2 |steroid hormone receptor ERR2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=337489 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2103[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6054074 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004452 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004452 DBL|UNIGENE:Hs.337489 |OMIM:602167 |SNP:2103 MAP|14q24.3 ENZ|steroid hormone receptor activity ; GO:0003707 |steroid binding ; GO:0005496 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Esrrb; score == 756; expect == 0.0; MEOW:MGgn0004017 (93%) |species == Mouse; gene == Esrrg; score == 675; expect == 0.0; MEOW:MGgn0004018 (77%) |species == Human; gene == ESRRG; score == 664; expect == 0.0; MEOW:HUgn0002104 (76%) |species == rat; score == 549; expect == 2e-156; MEOW:ref|XP_234426.2| (95%) |species == Mosquito; gene == LOC11619; score == 294; expect == 3.8e-80; MEOW:AGgn0011619 (45%) |species == Fruitfly; gene == ERR; score == 285; expect == 1.8e-77; MEOW:FBgn0035849 (42%) |species == Zfish; gene == esr2a; score == 247; expect == 1.4e-65; MEOW:ZFgn0002638 (40%) |species == Zfish; gene == esr1; score == 246; expect == 8.4e-67; MEOW:ZFgn0002618 (39%) |species == Zfish; gene == esr2b; score == 238; expect == 2.3e-64; MEOW:ZFgn0011932 (37%) |species == Zfish; gene == rxrg; score == 199; expect == 1.5e-52; MEOW:ZFgn0000444 (33%) |species == chimp; score == 144; expect == 2.1e-36; MEOW:sp|O97775|ANDR_PANTR (30%) |species == Worm; gene == nhr-69; score == 138; expect == 4.3e-33; MEOW:CEgn0002212 (29%) } # EOR GENR { RETE|ID 1 HUgn0002104 CHR 1 1 DID 1 LocusLink:2104 MAP 1 1q41 NAM 1 estrogen-related receptor gamma ORG 1 Homo sapiens SYM 1 ESRRG ID|HUgn0002104 DID|LocusLink:2104 ORG|Homo sapiens RSQ|REFSEQ:NM_001438 RPA|REFPROT:NP_001429 DBA|XM:NM_001438 |NA:AB020639 |NA:AF058291 |NA:AF094518 |NA:AY388456 |NA:AY388460 |NA:BX647076 |NA:none PAC|XP:NP_001429 SYM|ESRRG NAM|estrogen-related receptor gamma SYN|ERR3 FNC|estrogen-related receptor gamma |regulation of transcription, DNA-dependent ; GO:0006355 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=151017 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2104[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9861425 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001438 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001438 DBL|UNIGENE:Hs.151017 |OMIM:602969 |SNP:2104 MAP|1q41 ENZ|steroid hormone receptor activity ; GO:0003707 |steroid binding ; GO:0005496 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Esrrg; score == 835; expect == 0.0; MEOW:MGgn0004018 (98%) |species == Human; gene == ESRRB; score == 664; expect == 0.0; MEOW:HUgn0002103 (76%) |species == rat; score == 491; expect == 4e-139; MEOW:ref|XP_234426.2| (79%) |species == Mosquito; gene == LOC11619; score == 285; expect == 2.0e-77; MEOW:AGgn0011619 (41%) |species == Fruitfly; gene == ERR; score == 263; expect == 8.3e-71; MEOW:FBgn0035849 (42%) |species == Zfish; gene == esr1; score == 245; expect == 2.1e-66; MEOW:ZFgn0002618 (38%) |species == Zfish; gene == esr2a; score == 242; expect == 1.8e-65; MEOW:ZFgn0002638 (38%) |species == Zfish; gene == esr2b; score == 226; expect == 1.3e-60; MEOW:ZFgn0011932 (37%) |species == Zfish; gene == rxrg; score == 216; expect == 1.0e-57; MEOW:ZFgn0000444 (35%) |species == Zfish; gene == rxre; score == 204; expect == 4.1e-54; MEOW:ZFgn0000145 (33%) |species == Zfish; gene == rxrd; score == 199; expect == 1.0e-52; MEOW:ZFgn0000443 (34%) |species == Worm; gene == nhr-69; score == 149; expect == 2.7e-36; MEOW:CEgn0002212 (29%) |species == chimp; score == 138; expect == 1.3e-34; MEOW:sp|O97775|ANDR_PANTR (30%) } # EOR GENR { RETE|ID 1 HUgn0002107 CHR 1 5 DID 1 LocusLink:2107 MAP 1 5q31.1 NAM 1 eukaryotic translation termination factor 1 ORG 1 Homo sapiens SYM 1 ETF1 ID|HUgn0002107 DID|LocusLink:2107 ORG|Homo sapiens RSQ|REFSEQ:NM_004730 RPA|REFPROT:NP_004721 DBA|XM:NM_004730 |NA:AF095901 |NA:BC014269 |NA:BT007374 |NA:M75715 |NA:U90176 |NA:X80916 |NA:X81625 |NA:none PAC|XP:NP_004721 SYM|ETF1 NAM|eukaryotic translation termination factor 1 SYN|ERF |RF1 |ERF1 |eRF1 |TB3-1 |D5S1995 |SUP45L1 FNC|eukaryotic translation termination factor 1 |regulation of translational termination ; GO:0006449 CHR|5 PRD|polypeptide chain release factor 1 |sup45 (yeast omnipotent suppressor 45) homolog-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77324 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2107[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136042 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004730 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004730 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77324 DBL|UNIGENE:Hs.77324 |OMIM:600285 |SNP:2107 MAP|5q31.1 ENZ|RNA binding ; GO:0003723 |translation release factor activity, codon specific ; GO:0016149 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == crf10; score == 865; expect == 0.0; MEOW:MGgn0045770 (99%) |species == rat; score == 847; expect == 0.0; MEOW:ref|XP_226047.2| (100%) |species == Mosquito; gene == LOC18843; score == 744; expect == 0.0; MEOW:AGgn0018843 (85%) |species == Fruitfly; gene == eRF1; score == 734; expect == 0.0; MEOW:FBgn0036974 (84%) |species == Worm; gene == T05H4.6a; score == 684; expect == 0.0; MEOW:CEgn0028060 (78%) |species == Worm; gene == T05H4.6b; score == 677; expect == 0.0; MEOW:CEgn0028061 (80%) |species == rice; score == 647; expect == 0.0; MEOW:gnl|TIGR|8360.m04437 (74%) |species == rice; score == 644; expect == 0.0; MEOW:gnl|TIGR|8355.m03781 (74%) |species == rice; score == 636; expect == 0.0; MEOW:gnl|TIGR|8350.m06682 (73%) |species == Weed; gene == At1g12920; score == 631; expect == 0.0; MEOW:ATgn0001048 (73%) |species == Weed; gene == At5g47880; score == 618; expect == 2e-177; MEOW:ATgn0021089 (72%) |species == Yeast; gene == SUP45; score == 604; expect == 1e-173; MEOW:SGgn0000347 (68%) |species == rice; score == 604; expect == 6e-173; MEOW:gnl|TIGR|8353.m02681 (68%) |species == Weed; gene == At3g26618; score == 567; expect == 3e-162; MEOW:ATgn0012151 (74%) } # EOR GENR { RETE|ID 1 HUgn0002108 CHR 1 15 DID 1 LocusLink:2108 MAP 1 15q23-q25 NAM 1 electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) ORG 1 Homo sapiens SYM 1 ETFA ID|HUgn0002108 DID|LocusLink:2108 ORG|Homo sapiens RSQ|REFSEQ:NM_000126 RPA|REFPROT:NP_000117 DBA|XM:NM_000126 |NA:AJ224002 |NA:BC015526 |NA:BC029995 |NA:BC034156 |NA:BT009796 |NA:J04058 |NA:none PAC|XP:NP_000117 SYM|ETFA NAM|electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) SYN|EMA |GA2 |MADD FNC|electron transfer flavoprotein, alpha polypeptide |electron transport ; GO:0006118 REAB|ETFA participates in catalyzing the initial step of the mitochondrial fatty acid |beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases |and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. |Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria |in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion |of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric |acids. CHR|15 PRD|Electron transfer flavoprotein, alpha polypeptide |electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria II) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169919 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2108[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119121 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000126 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000126 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169919 |http://www.geneclinics.org/query?mim=231680 DBL|UNIGENE:Hs.169919 |OMIM:608053 |SNP:2108 |UWCM:119121.html MAP|15q23-q25 PHP|Glutaricaciduria, type IIA ENZ|electron transfer flavoprotein ; GO:0008246 |electron transporter activity ; GO:0005489 CEL|mitochondrial matrix ; GO:0005759 HG|species == rat; score == 553; expect == 6e-158; MEOW:ref|XP_217155.1| (95%) |species == Mouse; gene == Etfa; score == 552; expect == 9e-158; MEOW:MGgn0004084 (95%) |species == Fruitfly; gene == wal; score == 412; expect == 1e-115; MEOW:FBgn0010516 (70%) |species == Mosquito; score == 396; expect == 7e-111; MEOW:AGgn0014287 (68%) |species == Weed; gene == At1g50940; score == 275; expect == 2.2e-74; MEOW:ATgn0002553 (48%) |species == Yeast; gene == YPR004C; score == 270; expect == 6.5e-73; MEOW:SGgn0006208 (48%) |species == rice; score == 232; expect == 5.4e-61; MEOW:gnl|TIGR|8360.m05601 (48%) } # EOR GENR { RETE|ID 1 HUgn0002109 CHR 1 19 DID 1 LocusLink:2109 MAP 1 19q13.3 NAM 1 electron-transfer-flavoprotein, beta polypeptide ORG 1 Homo sapiens SYM 1 ETFB ID|HUgn0002109 DID|LocusLink:2109 ORG|Homo sapiens RSQ|REFSEQ:NM_001985 RPA|REFPROT:NP_001976 DBA|XM:NM_001985 |NA:AK055285 |NA:X71129 |NA:none PAC|XP:NP_001976 SYM|ETFB NAM|electron-transfer-flavoprotein, beta polypeptide SYN|MADD FNC|electron-transfer-flavoprotein, beta polypeptide |electron transport ; GO:0006118 REAB|Electron-transfer-flavoprotein, beta polypeptide shuttles electrons between primary |flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid |catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. |ETFB deficiencies have been implicated in type II glutaricaciduria. CHR|19 PRD|Electron transfer flavoprotein, beta polypeptide |electron-transferring-flavoprotein, beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74047 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2109[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119887 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001985 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001985 |http://www.geneclinics.org/query?mim=130410 DBL|UNIGENE:Hs.74047 |OMIM:130410 |SNP:2109 |UWCM:119887.html MAP|19q13.3 PHP|Glutaricaciduria, type IIB ENZ|electron transfer flavoprotein ; GO:0008246 |electron transporter activity ; GO:0005489 CEL|mitochondrial matrix ; GO:0005759 HG|species == rice; score == 300; expect == 3.8e-82; MEOW:gnl|TIGR|8352.m00836 (61%) |species == Weed; gene == At5g43430; score == 299; expect == 8.4e-82; MEOW:ATgn0022982 (61%) |species == Mosquito; score == 298; expect == 8.3e-82; MEOW:AGgn0016103 (68%) |species == Fruitfly; gene == CG7834; score == 293; expect == 3.7e-80; MEOW:FBgn0039697 (70%) |species == Worm; gene == F23C8.5; score == 257; expect == 3.7e-69; MEOW:CEgn0009169 (59%) |species == Yeast; gene == YGR207C; score == 223; expect == 6.2e-59; MEOW:SGgn0003439 (46%) } # EOR GENR { RETE|ID 1 HUgn0002110 CHR 1 4 DID 1 LocusLink:2110 MAP 1 4q32-q35 NAM 1 electron-transferring-flavoprotein dehydrogenase ORG 1 Homo sapiens SYM 1 ETFDH ID|HUgn0002110 DID|LocusLink:2110 ORG|Homo sapiens RSQ|REFSEQ:NM_004453 RPA|REFPROT:NP_004444 DBA|XM:NM_004453 |NA:BC011890 |NA:BX538129 |NA:S69232 |NA:none PAC|XP:NP_004444 SYM|ETFDH NAM|electron-transferring-flavoprotein dehydrogenase SYN|MADD |ETFQO FNC|electron-transferring-flavoprotein dehydrogenase |electron transport ; GO:0006118 REAB|Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane |accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial |matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized |as a 67-kDa precursor which is targeted to mitochondria and processed in a single |step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency |in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some |patients with type II glutaricacidemia. CHR|4 PRD|ETF-ubiquinone oxidoreductase |Electron transfer flavoprotein:ubiquinone oxidoreductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511919 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2110[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004453 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004453 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511919 |http://www.geneclinics.org/query?mim=231675 DBL|UNIGENE:Hs.511919 |OMIM:231675 |SNP:2110 |UWCM:135992.html ENZ|EC:1.5.5.1 |electron acceptor activity ; GO:0009054 |electron-transferring-flavoprotein dehydrogenase activity ; GO:0004174 |oxidoreductase activity ; GO:0016491 MAP|4q32-q35 PHP|Glutaricaciduria, type IIC CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |mitochondrial inner membrane ; GO:0005743 HG|species == Mouse; gene == Etfdh; score == 1194; expect == 0.0; MEOW:MGgn0004086 (92%) |species == rat; score == 1167; expect == 0.0; MEOW:ref|XP_215588.2| (94%) |species == Mosquito; score == 870; expect == 0.0; MEOW:AGgn0013487 (69%) |species == Fruitfly; gene == CG12140; score == 848; expect == 0.0; MEOW:FBgn0033465 (66%) |species == Worm; gene == let-721; score == 754; expect == 0.0; MEOW:CEgn0001690 (63%) |species == Weed; gene == At2g43400; score == 614; expect == 5e-176; MEOW:ATgn0008825 (54%) |species == rice; score == 601; expect == 1e-171; MEOW:gnl|TIGR|8362.m02955 (52%) |species == Yeast; gene == YOR356W; score == 580; expect == 2e-166; MEOW:SGgn0005883 (52%) } # EOR GENR { RETE|ID 1 HUgn0002111 CHR 1 3 DID 1 LocusLink:2111 MAP 1 3q13 NAM 1 essential tremor 1 ORG 1 Homo sapiens SYM 1 ETM1 ID|HUgn0002111 DID|LocusLink:2111 ORG|Homo sapiens SYM|ETM1 NAM|essential tremor 1 SYN|FET1 CHR|3 DBL|OMIM:190300 MAP|3q13 PHP|Tremor, familial essential, 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9732523 |http://www.geneclinics.org/query?mim=190300 |http://www.ncbi.nlm.nih.gov/disease/Ess_tremor.html } # EOR GENR { RETE|ID 1 HUgn0002112 CHR 1 2 DID 1 LocusLink:2112 MAP 1 2p25-p22 NAM 1 essential tremor 2 ORG 1 Homo sapiens SYM 1 ETM2 ID|HUgn0002112 DID|LocusLink:2112 ORG|Homo sapiens SYM|ETM2 NAM|essential tremor 2 SYN|ETM CHR|2 DBL|OMIM:602134 MAP|2p25-p22 PHP|Tremor, familial essential, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:7009905 |http://www.geneclinics.org/query?mim=602134 |http://www.ncbi.nlm.nih.gov/disease/Ess_tremor.html } # EOR GENR { RETE|ID 1 HUgn0002113 CHR 1 11 DID 1 LocusLink:2113 MAP 1 11q23.3 NAM 1 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) ORG 1 Homo sapiens SYM 1 ETS1 ID|HUgn0002113 DID|LocusLink:2113 ORG|Homo sapiens RSQ|REFSEQ:NM_005238 RPA|REFPROT:NP_005229 DBA|XM:NM_005238 |NA:AK001630 |NA:BC017314 |NA:BX640634 |NA:J04101 |NA:X14798 |NA:none PAC|XP:NP_005229 SYM|ETS1 NAM|v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) FNC|v-ets erythroblastosis virus E26 oncogene homolog 1 |negative regulation of cell proliferation ; GO:0008285 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |immune response ; GO:0006955 |transcription from Pol II promoter ; GO:0006366 CHR|11 PRD|v-ets avian erythroblastosis virus E2 oncogene homolog 1 |v-ets avian erythroblastosis virus E26 oncogene homolog 1 |Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 |v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=18063 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2113[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119122 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005238 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005238 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.18 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=18063 DBL|UNIGENE:Hs.18063 |OMIM:164720 |SNP:2113 MAP|11q23.3 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 878; expect == 0.0; MEOW:ref|NP_036687.1| (98%) |species == Mouse; gene == Ets1; score == 828; expect == 0.0; MEOW:MGgn0004105 (93%) |species == Human; gene == ETS2; score == 411; expect == 6e-115; MEOW:HUgn0002114 (55%) |species == Mosquito; score == 214; expect == 4.3e-56; MEOW:AGgn0025810 (87%) |species == Fruitfly; gene == pnt; score == 209; expect == 1.1e-54; MEOW:FBgn0003118 (88%) |species == Zfish; gene == e4tf; score == 142; expect == 1.9e-35; MEOW:ZFgn0000960 (62%) |species == Zfish; gene == erm; score == 134; expect == 1.5e-31; MEOW:ZFgn0000674 (57%) |species == Zfish; gene == pea3; score == 127; expect == 4.9e-31; MEOW:ZFgn0000329 (60%) } # EOR GENR { RETE|ID 1 HUgn0002114 CHR 1 21 DID 1 LocusLink:2114 MAP 1 21q22.3 NAM 1 v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) ORG 1 Homo sapiens SYM 1 ETS2 ID|HUgn0002114 DID|LocusLink:2114 ORG|Homo sapiens RSQ|REFSEQ:NM_005239 RPA|REFPROT:NP_005230 DBA|XM:NM_005239 |NA:AF017257 |NA:X55181 |NA:AK096841 |NA:BC017040 |NA:BC042954 |NA:BT006838 |NA:J04102 |NA:none PAC|XP:NP_005230 SYM|ETS2 NAM|v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) FNC|v-ets erythroblastosis virus E26 oncogene homolog 2 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 CHR|21 PRD|Oncogene ETS-2 |human erythroblastosis virus oncogene homolog 2 |v-ets avian erythroblastosis virus E2 oncogene homolog 2 |v-ets avian erythroblastosis virus E26 oncogene homolog 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=292477 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2114[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119888 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005239 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005239 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=292477 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27903 DBL|UNIGENE:Hs.292477 |OMIM:164740 |SNP:2114 MAP|21q22.3 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 879; expect == 0.0; MEOW:ref|XP_239510.2| (91%) |species == Mouse; gene == Ets2; score == 869; expect == 0.0; MEOW:MGgn0004106 (91%) |species == Human; gene == ETS1; score == 411; expect == 6e-115; MEOW:HUgn0002113 (55%) |species == Mosquito; score == 207; expect == 7.4e-54; MEOW:AGgn0025810 (81%) |species == Fruitfly; gene == pnt; score == 206; expect == 1.0e-53; MEOW:FBgn0003118 (84%) |species == Zfish; gene == e4tf; score == 141; expect == 6.0e-35; MEOW:ZFgn0000960 (43%) |species == Worm; gene == C42D8.4; score == 132; expect == 1.7e-31; MEOW:CEgn0006386 (63%) |species == Zfish; gene == erm; score == 131; expect == 4.8e-32; MEOW:ZFgn0000674 (57%) } # EOR GENR { RETE|ID 1 HUgn0002115 CHR 1 7 DID 1 LocusLink:2115 MAP 1 7p22 NAM 1 ets variant gene 1 ORG 1 Homo sapiens SYM 1 ETV1 ID|HUgn0002115 DID|LocusLink:2115 ORG|Homo sapiens RSQ|REFSEQ:NM_004956 RPA|REFPROT:NP_004947 DBA|XM:NM_004956 |XM:NM_004956 |NA:AC004857 |NA:BC045776 |NA:BF346325 |NA:U17163 |NA:X87175 |NA:none PAC|XP:NP_004947 |XP:NP_004947 SYM|ETV1 NAM|ets variant gene 1 SYN|ER81 FNC|ets variant gene 1 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 CHR|7 DBL|OMIM:600541 |SNP:2115 MAP|7p22 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2115[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335229 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004956 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004956 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Etv1; score == 967; expect == 0.0; MEOW:MGgn0004108 (97%) |species == rat; score == 732; expect == 0.0; MEOW:ref|XP_343056.1| (69%) |species == Human; gene == ETV5; score == 594; expect == 4e-170; MEOW:HUgn0002119 (60%) |species == Zfish; gene == pea3; score == 503; expect == 1e-142; MEOW:ZFgn0000329 (54%) |species == Human; gene == ETV4; score == 483; expect == 8e-137; MEOW:HUgn0002118 (54%) |species == Mosquito; score == 187; expect == 1.3e-47; MEOW:AGgn0026464 (88%) |species == Fruitfly; gene == Ets96B; score == 180; expect == 1.0e-45; MEOW:FBgn0039225 (87%) } # EOR GENR { RETE|ID 1 HUgn0002116 CHR 1 19 DID 1 LocusLink:2116 MAP 1 19q13.11 NAM 1 ets variant gene 2 ORG 1 Homo sapiens SYM 1 ETV2 ID|HUgn0002116 DID|LocusLink:2116 ORG|Homo sapiens DBA|NA:AC002115 |NA:AF000671 |NA:none SYM|ETV2 NAM|ets variant gene 2 SYN|ER71 CHR|19 PRD|ets-related protein 71 MAP|19q13.11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:335231 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AF000671 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AF000671 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0002117 CHR 1 1 DID 1 LocusLink:2117 MAP 1 1q21-q23 NAM 1 ets variant gene 3 ORG 1 Homo sapiens SYM 1 ETV3 ID|HUgn0002117 DID|LocusLink:2117 ORG|Homo sapiens RSQ|REFSEQ:NM_005240 RPA|REFPROT:NP_005231 DBA|XM:NM_005240 |NA:AF218540 |NA:BC022868 |NA:L16464 |NA:none PAC|XP:NP_005231 SYM|ETV3 NAM|ets variant gene 3 SYN|PE1 |METS |PE-1 |bA110J1.4 FNC|ets variant gene 3 |regulation of transcription, DNA-dependent ; GO:0006355 |biological_process unknown ; GO:0000004 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=352672 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2117[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362716 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005240 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005240 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=352672 DBL|UNIGENE:Hs.352672 |OMIM:164873 |SNP:2117 MAP|1q21-q23 ENZ|molecular_function unknown ; GO:0005554 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Etv3; score == 287; expect == 1.0e-78; MEOW:MGgn0008905 (97%) |species == rat; score == 285; expect == 3.3e-77; MEOW:ref|XP_227482.2| (97%) |species == Human; gene == ERF; score == 219; expect == 3.1e-57; MEOW:HUgn0002077 (85%) |species == Human; gene == LOC376527; score == 212; expect == 2.2e-55; MEOW:HUgn0376527 (78%) } # EOR GENR { RETE|ID 1 HUgn0002118 CHR 1 17 DID 1 LocusLink:2118 MAP 1 17q21 NAM 1 ets variant gene 4 (E1A enhancer binding protein, E1AF) ORG 1 Homo sapiens SYM 1 ETV4 ID|HUgn0002118 DID|LocusLink:2118 ORG|Homo sapiens RSQ|REFSEQ:NM_001986 RPA|REFPROT:NP_001977 DBA|XM:NM_001986 |NA:AF095886 |NA:AF095887 |NA:AF095888 |NA:AF095889 |NA:AF095890 |NA:BC007242 |NA:BC016623 |NA:D12765 |NA:U18018 |NA:none PAC|XP:NP_001977 SYM|ETV4 NAM|ets variant gene 4 (E1A enhancer binding protein, E1AF) SYN|E1A-F |PEAS3 FNC|ets variant gene 4 (E1A enhancer binding protein, E1AF) |regulation of transcription, DNA-dependent ; GO:0006355 CHR|17 PRD|ets variant gene 4 (E1A enhancer-binding protein, E1AF) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434059 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2118[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:512230 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001986 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001986 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434059 DBL|UNIGENE:Hs.434059 |OMIM:600711 |SNP:2118 MAP|17q21 ENZ|transcription factor activity ; GO:0003700 |transcriptional activator activity ; GO:0016563 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Etv4; score == 924; expect == 0.0; MEOW:MGgn0008907 (91%) |species == rat; score == 883; expect == 0.0; MEOW:ref|XP_340911.1| (93%) |species == Zfish; gene == pea3; score == 540; expect == 4e-155; MEOW:ZFgn0000329 (59%) |species == Human; gene == ETV1; score == 483; expect == 8e-137; MEOW:HUgn0002115 (54%) |species == Human; gene == ETV5; score == 430; expect == 8e-121; MEOW:HUgn0002119 (50%) |species == Mosquito; score == 180; expect == 1.0e-45; MEOW:AGgn0026464 (84%) |species == Fruitfly; gene == Ets96B; score == 176; expect == 2.0e-44; MEOW:FBgn0039225 (62%) } # EOR GENR { RETE|ID 1 HUgn0002119 CHR 1 3 DID 1 LocusLink:2119 MAP 1 3q28 NAM 1 ets variant gene 5 (ets-related molecule) ORG 1 Homo sapiens SYM 1 ETV5 ID|HUgn0002119 DID|LocusLink:2119 ORG|Homo sapiens RSQ|REFSEQ:NM_004454 RPA|REFPROT:NP_004445 DBA|XM:NM_004454 |NA:X96381 |NA:BC007333 |NA:BT006713 |NA:X76184 |NA:none PAC|XP:NP_004445 SYM|ETV5 NAM|ets variant gene 5 (ets-related molecule) SYN|ERM FNC|ets variant gene 5 (ets-related molecule) |regulation of transcription, DNA-dependent ; GO:0006355 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=43697 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2119[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:361087 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004454 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004454 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=43697 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27908 DBL|UNIGENE:Hs.43697 |OMIM:601600 |SNP:2119 MAP|3q28 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Etv5; score == 942; expect == 0.0; MEOW:MGgn0004109 (95%) |species == rat; score == 844; expect == 0.0; MEOW:ref|XP_221387.2| (86%) |species == rat; score == 747; expect == 0.0; MEOW:ref|XP_226808.2| (75%) |species == Human; gene == ETV1; score == 594; expect == 4e-170; MEOW:HUgn0002115 (60%) |species == Zfish; gene == pea3; score == 435; expect == 3e-122; MEOW:ZFgn0000329 (48%) |species == Mosquito; score == 185; expect == 3.3e-47; MEOW:AGgn0026464 (87%) |species == Fruitfly; gene == Ets96B; score == 180; expect == 1.1e-45; MEOW:FBgn0039225 (87%) } # EOR GENR { RETE|ID 1 HUgn0002120 CHR 1 12 DID 1 LocusLink:2120 MAP 1 12p13 NAM 1 ets variant gene 6 (TEL oncogene) ORG 1 Homo sapiens SYM 1 ETV6 ID|HUgn0002120 DID|LocusLink:2120 ORG|Homo sapiens RSQ|REFSEQ:NM_001987 RPA|REFPROT:NP_001978 DBA|XM:NM_001987 |NA:U61375 |NA:U63312 |NA:U63313 |NA:U81834 |NA:BC020284 |NA:BC043399 |NA:BF510432 |NA:U11732 |NA:none PAC|XP:NP_001978 SYM|ETV6 NAM|ets variant gene 6 (TEL oncogene) SYN|TEL FNC|ets variant gene 6 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes an ETS family transcription factor. The product of this gene contains |two functional domains: a N-terminal pointed (PNT) domain that is involved in the |protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding |domain. Gene knockout studies in mice suggest that it is required for hematopoiesis |and maintenance of the developing vascular network. This gene is known to be involved |in a large number of chromosomal rearrangements associated with leukemia and congenital |fibrosarcoma. CHR|12 PRD|TEL1 oncogene URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171262 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2120[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595497 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001987 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001987 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=171262 DBL|UNIGENE:Hs.171262 |OMIM:600618 |SNP:2120 MAP|12p13 PHP|Leukemia, acute lymphoblastic ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Etv6; score == 811; expect == 0.0; MEOW:MGgn0004110 (88%) |species == rat; score == 629; expect == 1e-180; MEOW:ref|XP_232463.2| (82%) |species == Zfish; gene == etv6; score == 480; expect == 3e-137; MEOW:ZFgn0002282 (56%) |species == Human; gene == ETV7; score == 195; expect == 2.6e-50; MEOW:HUgn0051513 (53%) } # EOR GENR { RETE|ID 1 HUgn0002121 CHR 1 4 DID 1 LocusLink:2121 MAP 1 4p16 NAM 1 Ellis van Creveld syndrome ORG 1 Homo sapiens SYM 1 EVC ID|HUgn0002121 DID|LocusLink:2121 ORG|Homo sapiens RSQ|REFSEQ:NM_014556 |REFSEQ:NM_153717 RPA|REFPROT:NP_055371 |REFPROT:NP_714928 DBA|XM:NM_014556 |XM:NM_153717 |NA:AF216184 |NA:AF216185 |NA:AF239742 |NA:AK025394 |NA:BM670090 |NA:none PAC|XP:NP_055371 |XP:NP_714928 SYM|EVC NAM|Ellis van Creveld syndrome SYN|DWF-1 FNC|Ellis van Creveld syndrome protein |muscle development ; GO:0007517 |skeletal development ; GO:0001501 REAB|This gene encodes a protein containing a leucine zipper and a transmembrane domain. |This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers |acrodental dysostosis. Two transcript variants encoding the same protein have been |identified for this gene. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=28051 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2121[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:555573 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014556 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014556 |http://www.ncbi.nlm.nih.gov/disease/EVC.html DBL|UNIGENE:Hs.28051 |OMIM:604831 |SNP:2121 |UWCM:555573.html MAP|4p16 PHP|Ellis-van Creveld syndrome |Weyers acrodental dysostosis CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Evc; score == 1021; expect == 0.0; MEOW:MGgn0014657 (67%) |species == rat; score == 887; expect == 0.0; MEOW:ref|XP_223512.2| (60%) } # EOR GENR { RETE|ID 1 HUgn0002122 CHR 1 3 DID 1 LocusLink:2122 MAP 1 3q24-q28 NAM 1 ecotropic viral integration site 1 ORG 1 Homo sapiens SYM 1 EVI1 ID|HUgn0002122 DID|LocusLink:2122 ORG|Homo sapiens RSQ|REFSEQ:NM_005241 RPA|REFPROT:NP_005232 DBA|XM:NM_005241 |NA:AF164155 |NA:AF164157 |NA:AF487423 |NA:AF487424 |NA:AK025934 |NA:BC012450 |NA:BC031019 |NA:BX640908 |NA:BX647613 |NA:S82592 |NA:X54989 PAC|XP:NP_005232 SYM|EVI1 NAM|ecotropic viral integration site 1 SYN|PRDM3 |MDS1-EVI1 FNC|ecotropic viral integration site 1 |JNK cascade ; GO:0007254 |cell death ; GO:0008219 |regulation of transcription, DNA-dependent ; GO:0006355 |oncogenesis ; GO:0007048 CHR|3 PRD|oncogene EVI1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436019 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2122[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119889 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005241 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005241 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436019 DBL|UNIGENE:Hs.436019 |OMIM:165215 |SNP:2122 MAP|3q24-q28 PHP|3q21q26 syndrome |Overexpressed in leukemic blasts and acute myelogenous leukemic cell lines; ENZ|JUN kinase binding ; GO:0008432 |protein kinase inhibitor activity ; GO:0004860 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Evi1; score == 1850; expect == 0.0; MEOW:MGgn0004112 (92%) |species == rat; score == 1771; expect == 0.0; MEOW:ref|XP_226987.2| (84%) |species == Human; gene == PRDM16; score == 1002; expect == 0.0; MEOW:HUgn0063976 (53%) |species == Fruitfly; gene == ham; score == 389; expect == 3e-108; MEOW:FBgn0045852 (33%) |species == Mosquito; score == 255; expect == 5.9e-68; MEOW:AGgn0012083 (33%) |species == Mosquito; gene == LOC23743; score == 227; expect == 1.7e-59; MEOW:AGgn0023743 (67%) } # EOR GENR { RETE|ID 1 HUgn0002123 CHR 1 17 DID 1 LocusLink:2123 MAP 1 17q11.2 NAM 1 ecotropic viral integration site 2A ORG 1 Homo sapiens SYM 1 EVI2A ID|HUgn0002123 DID|LocusLink:2123 ORG|Homo sapiens RSQ|REFSEQ:NM_014210 RPA|REFPROT:NP_055025 DBA|XM:NM_014210 |NA:M55267 |NA:BC035572 |NA:none PAC|XP:NP_055025 SYM|EVI2A NAM|ecotropic viral integration site 2A SYN|EVDA |EVI2 FNC|ecotropic viral integration site 2A |cell proliferation ; GO:0008283 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=70499 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125191 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014210 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014210 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=70499 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27913 DBL|UNIGENE:Hs.70499 |OMIM:158380 |SNP:2123 MAP|17q11.2 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Evi2; score == 265; expect == 1.0e-71; MEOW:MGgn0004116 (64%) } # EOR GENR { RETE|ID 1 HUgn0002124 CHR 1 17 DID 1 LocusLink:2124 MAP 1 17q11.2 NAM 1 ecotropic viral integration site 2B ORG 1 Homo sapiens SYM 1 EVI2B ID|HUgn0002124 DID|LocusLink:2124 ORG|Homo sapiens RSQ|REFSEQ:NM_006495 RPA|REFPROT:NP_006486 DBA|XM:NM_006495 |NA:M60830 |NA:BC005926 |NA:none PAC|XP:NP_006486 SYM|EVI2B NAM|ecotropic viral integration site 2B SYN|EVDB |D17S376 FNC|ecotropic viral integration site 2B |cell growth and/or maintenance ; GO:0008151 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5509 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006495 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006495 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5509 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA27914 DBL|UNIGENE:Hs.5509 |OMIM:158381 |SNP:2124 MAP|17q11.2 CEL|integral to plasma membrane ; GO:0005887 } # EOR GENR { RETE|ID 1 HUgn0002125 CHR 1 17 DID 1 LocusLink:2125 MAP 1 17q25 NAM 1 envoplakin ORG 1 Homo sapiens SYM 1 EVPL ID|HUgn0002125 DID|LocusLink:2125 ORG|Homo sapiens RSQ|REFSEQ:NM_001988 RPA|REFPROT:NP_001979 DBA|XM:NM_001988 |NA:U72849 |NA:U53786 |NA:none PAC|XP:NP_001979 SYM|EVPL NAM|envoplakin SYN|EVPK FNC|envoplakin |epidermal differentiation ; GO:0008544 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=447550 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2125[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230202 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001988 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001988 DBL|UNIGENE:Hs.447550 |OMIM:601590 |SNP:2125 MAP|17q25 ENZ|structural molecule activity ; GO:0005198 CEL|plasmodesma ; GO:0009506 |cytoskeleton ; GO:0005856 HG|species == rat; score == 2793; expect == 0.0; MEOW:ref|XP_221129.2| (81%) |species == Mouse; gene == Ppl; score == 659; expect == 0.0; MEOW:MGgn0009354 (29%) |species == Human; gene == PPL; score == 624; expect == 2e-178; MEOW:HUgn0005493 (30%) |species == Fruitfly; gene == shot; score == 139; expect == 1.3e-32; MEOW:FBgn0013733 (26%) } # EOR GENR { RETE|ID 1 HUgn0002126 CHR 1 11 DID 1 LocusLink:2126 MAP 1 11q13-q23 NAM 1 exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) ORG 1 Homo sapiens SYM 1 EVR1 ID|HUgn0002126 DID|LocusLink:2126 ORG|Homo sapiens SYM|EVR1 NAM|exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) SYN|FEVR CHR|11 DBL|OMIM:133780 MAP|11q13-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134029 } # EOR GENR { RETE|ID 1 HUgn0002127 CHR 1 X DID 1 LocusLink:2127 MAP 1 Xp11.4 NAM 1 exudative vitreoretinopathy 2 (X-linked) ORG 1 Homo sapiens SYM 1 EVR2 ID|HUgn0002127 DID|LocusLink:2127 ORG|Homo sapiens SYM|EVR2 NAM|exudative vitreoretinopathy 2 (X-linked) SYN|FEVR CHR|X DBL|OMIM:305390 MAP|Xp11.4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136068 } # EOR GENR { RETE|ID 1 HUgn0002128 CHR 1 7 DID 1 LocusLink:2128 MAP 1 7p15-p14 NAM 1 eve, even-skipped homeo box homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 EVX1 ID|HUgn0002128 DID|LocusLink:2128 ORG|Homo sapiens RSQ|REFSEQ:NM_001989 RPA|REFPROT:NP_001980 DBA|XM:NM_001989 |XM:NM_001989 |NA:U68781 |NA:U68782 |NA:X60655 |NA:none PAC|XP:NP_001980 |XP:NP_001980 SYM|EVX1 NAM|eve, even-skipped homeo box homolog 1 (Drosophila) FNC|even-skipped homeo box 1 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|This gene encodes a protein that is a member of the vertebrate eve-related homeo |box family. This protein acts as a transcriptional repressor. A similar protein |in mice is critical for early embryogenesis. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=369879 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2128[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129081 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001989 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001989 DBL|UNIGENE:Hs.369879 |OMIM:142996 |SNP:2128 MAP|7p15-p14 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Evx1; score == 640; expect == 0.0; MEOW:MGgn0004127 (90%) |species == Zfish; gene == evx1; score == 359; expect == 1e-100; MEOW:ZFgn0000111 (76%) |species == Zfish; gene == evx2; score == 330; expect == 3.5e-92; MEOW:ZFgn0000051 (48%) |species == Human; gene == LOC344191; score == 288; expect == 2.9e-78; MEOW:HUgn0344191 (53%) |species == rat; score == 235; expect == 3.8e-62; MEOW:ref|XP_221512.2| (48%) |species == Mosquito; gene == LOC14201; score == 144; expect == 1.6e-35; MEOW:AGgn0014201 (65%) |species == Fruitfly; gene == eve; score == 144; expect == 5.2e-35; MEOW:FBgn0000606 (48%) } # EOR GENR { RETE|ID 1 HUgn0002129 CHR 1 2 DID 1 LocusLink:2129 MAP 1 2q31-q32 NAM 1 eve, even-skipped homeo box homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 EVX2 ID|HUgn0002129 DID|LocusLink:2129 ORG|Homo sapiens DBA|NA:M59982 |NA:M59983 |NA:none SYM|EVX2 NAM|eve, even-skipped homeo box homolog 2 (Drosophila) CHR|2 PRD|Even-skipped homeo box-2 |even-skipped homeo box 2 (homolog of Drosophila eve) DBL|OMIM:142991 MAP|2q31-q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:127528 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 |biological_process unknown ; GO:0000004 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0002130 CHR 1 22 DID 1 LocusLink:2130 MAP 1 22q12.2 NAM 1 Ewing sarcoma breakpoint region 1 ORG 1 Homo sapiens SYM 1 EWSR1 ID|HUgn0002130 DID|LocusLink:2130 ORG|Homo sapiens RSQ|REFSEQ:NM_005243 |REFSEQ:NM_013986 RPA|REFPROT:NP_005234 |REFPROT:NP_053733 DBA|XM:NM_005243 |XM:NM_013986 |NA:X72990 |NA:X98745 |NA:Y07848 |NA:AK026270 |NA:AK056309 |NA:AK056681 |NA:AK127624 |NA:BC000527 |NA:BC004817 |NA:BC011048 |NA:BX648769 |NA:X66899 PAC|XP:NP_005234 |XP:NP_053733 SYM|EWSR1 NAM|Ewing sarcoma breakpoint region 1 SYN|EWS FNC|Ewing sarcoma breakpoint region 1 isoform EWS |Ewing sarcoma breakpoint region 1 isoform EWS-b |oncogenesis ; GO:0007048 REAB|This gene encodes a putative RNA binding protein of unknown function. Mutations |in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause |Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative |splicing of this gene results in two products. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374477 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2130[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135984 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005243 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005243 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374477 DBL|UNIGENE:Hs.374477 |OMIM:133450 |SNP:2130 MAP|22q12.2 PHP|Chondrosarcoma, extraskeletal myxoid |Ewing sarcoma |Neuroepithelioma ENZ|RNA binding ; GO:0003723 HG|species == rat; score == 377; expect == 1e-104; MEOW:ref|XP_237930.2| (84%) |species == Human; gene == LOC284685; score == 279; expect == 3.3e-75; MEOW:HUgn0284685 (66%) |species == rat; score == 265; expect == 3.0e-71; MEOW:ref|XP_236260.2| (69%) |species == Mouse; gene == Fus; score == 143; expect == 2.6e-34; MEOW:MGgn0013653 (56%) |species == Mouse; gene == Taf15; score == 133; expect == 2.4e-31; MEOW:MGgn0021052 (59%) } # EOR GENR { RETE|ID 1 HUgn0002131 CHR 1 8 DID 1 LocusLink:2131 MAP 1 8q24.11-q24.13 NAM 1 exostoses (multiple) 1 ORG 1 Homo sapiens SYM 1 EXT1 ID|HUgn0002131 DID|LocusLink:2131 ORG|Homo sapiens RSQ|REFSEQ:NM_000127 RPA|REFPROT:NP_000118 DBA|XM:NM_000127 |NA:U70539 |NA:BC001174 |NA:S79639 |NA:none PAC|XP:NP_000118 SYM|EXT1 NAM|exostoses (multiple) 1 SYN|EXT FNC|exostoses (multiple) 1 |glycosaminoglycan biosynthesis ; GO:0006024 |cell growth and/or maintenance ; GO:0008151 |skeletal development ; GO:0001501 |signal transduction ; GO:0007165 |negative regulation of cell cycle ; GO:0045786 REAB|Exostoses (multiple) 1 (EXT1) is an ER-resident type II transmembrane glycosyltransferase |involved in the chain elongation step of heparan sulfate biosynthesis. It is involved |in hereditary multiple exostoses, a disorder characterized by cartilaginous excrescences |near the ends of the diaphyses of the bones of the extremities. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184161 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2131[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135994 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000127 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000127 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=184161 |http://www.geneclinics.org/query?mim=133700 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00532 DBL|UNIGENE:Hs.184161 |OMIM:133700 |SNP:2131 MAP|8q24.11-q24.13 PHP|Chondrosarcoma |Exostoses, multiple, type 1 CEL|endoplasmic reticulum membrane ; GO:0005789 |Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 ENZ|transferase activity, transferring glycosyl groups ; GO:0016757 |N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ; GO:0050509 HG|species == Mouse; gene == Ext1; score == 1460; expect == 0.0; MEOW:MGgn0004142 (98%) |species == rat; score == 838; expect == 0.0; MEOW:ref|XP_216920.2| (99%) |species == rat; score == 838; expect == 0.0; MEOW:ref|XP_347245.1| (99%) |species == Mosquito; score == 770; expect == 0.0; MEOW:AGgn0000148 (53%) |species == Fruitfly; gene == ttv; score == 755; expect == 0.0; MEOW:FBgn0020245 (52%) |species == Human; gene == EXTL1; score == 542; expect == 3e-154; MEOW:HUgn0002134 (45%) |species == Worm; gene == rib-1; score == 342; expect == 1.6e-94; MEOW:CEgn0002443 (49%) } # EOR GENR { RETE|ID 1 HUgn0002132 CHR 1 11 DID 1 LocusLink:2132 MAP 1 11p12-p11 NAM 1 exostoses (multiple) 2 ORG 1 Homo sapiens SYM 1 EXT2 ID|HUgn0002132 DID|LocusLink:2132 ORG|Homo sapiens RSQ|REFSEQ:NM_000401 RPA|REFPROT:NP_000392 DBA|XM:NM_000401 |NA:U67368 |NA:BC010058 |NA:BC013050 |NA:BX648142 |NA:U62740 |NA:U64511 |NA:U72263 |NA:none PAC|XP:NP_000392 SYM|EXT2 NAM|exostoses (multiple) 2 FNC|exostoses (multiple) 2 |glycosaminoglycan biosynthesis ; GO:0006024 |cell growth and/or maintenance ; GO:0008151 |skeletal development ; GO:0001501 |signal transduction ; GO:0007165 |negative regulation of cell cycle ; GO:0045786 REAB|Exostoses (multiple) 2 (EXT2) is a glycosyltransferase involved in the chain elongation |step of heparan sulfate biosynthesis. It is involved in hereditary multiple exostoses, |a disorder characterized by cartilaginous excrescences near the ends of the diaphyses |of the bones of the extremities. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75334 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2132[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344921 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000401 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000401 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75334 |http://www.geneclinics.org/query?mim=133701 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00532 DBL|UNIGENE:Hs.75334 |OMIM:133701 |SNP:2132 MAP|11p12-p11 PHP|Exostoses, multiple, type 2 CEL|endoplasmic reticulum membrane ; GO:0005789 |Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 ENZ|transferase activity, transferring glycosyl groups ; GO:0016757 |N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ; GO:0050509 HG|species == Mouse; gene == Ext2; score == 1406; expect == 0.0; MEOW:MGgn0004143 (95%) |species == rat; score == 1312; expect == 0.0; MEOW:ref|XP_230303.2| (94%) |species == Mosquito; gene == LOC8170; score == 708; expect == 0.0; MEOW:AGgn0008170 (51%) |species == Human; gene == EXT1; score == 410; expect == 1e-114; MEOW:HUgn0002131 (35%) |species == Fruitfly; gene == ttv; score == 380; expect == 1e-105; MEOW:FBgn0020245 (34%) |species == Worm; gene == rib-2; score == 228; expect == 6.3e-60; MEOW:CEgn0002444 (31%) |species == Weed; gene == At3g55830; score == 134; expect == 1.8e-31; MEOW:ATgn0015624 (32%) } # EOR GENR { RETE|ID 1 HUgn0002133 CHR 1 19 DID 1 LocusLink:2133 MAP 1 19p NAM 1 exostoses (multiple) 3 ORG 1 Homo sapiens SYM 1 EXT3 ID|HUgn0002133 DID|LocusLink:2133 ORG|Homo sapiens SYM|EXT3 NAM|exostoses (multiple) 3 SYN|EXT2 CHR|19 DBL|OMIM:600209 MAP|19p PHP|Exostoses, multiple, type 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:383780 } # EOR GENR { RETE|ID 1 HUgn0002134 CHR 1 1 DID 1 LocusLink:2134 MAP 1 1p36.1 NAM 1 exostoses (multiple)-like 1 ORG 1 Homo sapiens SYM 1 EXTL1 ID|HUgn0002134 DID|LocusLink:2134 ORG|Homo sapiens RSQ|REFSEQ:NM_004455 RPA|REFPROT:NP_004446 DBA|XM:NM_004455 |NA:AF083633 |NA:U67191 |NA:none PAC|XP:NP_004446 SYM|EXTL1 NAM|exostoses (multiple)-like 1 SYN|EXTL FNC|exostoses (multiple)-like 1 |cell growth and/or maintenance ; GO:0008151 |skeletal development ; GO:0001501 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150956 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2134[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6268492 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004455 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004455 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00532 DBL|UNIGENE:Hs.150956 |OMIM:601738 |SNP:2134 MAP|1p36.1 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|transferase activity, transferring glycosyl groups ; GO:0016757 |glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ; GO:0050508 HG|species == Mouse; gene == Extl1; score == 975; expect == 0.0; MEOW:MGgn0014497 (74%) |species == rat; score == 971; expect == 0.0; MEOW:ref|XP_233547.2| (71%) |species == Human; gene == EXT1; score == 542; expect == 3e-154; MEOW:HUgn0002131 (45%) |species == Mosquito; score == 447; expect == 7e-126; MEOW:AGgn0000148 (40%) |species == Fruitfly; gene == ttv; score == 434; expect == 4e-122; MEOW:FBgn0020245 (39%) } # EOR GENR { RETE|ID 1 HUgn0002135 CHR 1 1 DID 1 LocusLink:2135 MAP 1 1p21 NAM 1 exostoses (multiple)-like 2 ORG 1 Homo sapiens SYM 1 EXTL2 ID|HUgn0002135 DID|LocusLink:2135 ORG|Homo sapiens RSQ|REFSEQ:NM_001439 RPA|REFPROT:NP_001430 DBA|XM:NM_001439 |NA:AB009284 |NA:AF000416 |NA:AK096914 |NA:BC014910 |NA:BC036015 |NA:BC045681 |NA:U76189 |NA:none PAC|XP:NP_001430 SYM|EXTL2 NAM|exostoses (multiple)-like 2 SYN|EXTR2 FNC|exostoses (multiple)-like 2 CHR|1 PRD|Exostoses, multiple, like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=357637 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2135[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834880 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001439 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001439 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=357637 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00532 DBL|UNIGENE:Hs.357637 |OMIM:602411 |SNP:2135 MAP|1p21 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|transferase activity, transferring glycosyl groups ; GO:0016757 HG|species == Mouse; gene == Extl2; score == 550; expect == 3e-157; MEOW:MGgn0014498 (86%) |species == rat; score == 544; expect == 2e-155; MEOW:ref|XP_227614.2| (85%) |species == Human; gene == EXT2; score == 137; expect == 1.6e-32; MEOW:HUgn0002132 (31%) |species == Human; gene == EXTL3; score == 137; expect == 2.8e-32; MEOW:HUgn0002137 (31%) |species == Mosquito; gene == LOC8170; score == 136; expect == 1.3e-32; MEOW:AGgn0008170 (35%) } # EOR GENR { RETE|ID 1 HUgn0002136 CHR 1 2 DID 1 LocusLink:2136 MAP 1 2q24-q31 NAM 1 exostoses (multiple)-like 2 pseudogene ORG 1 Homo sapiens SYM 1 EXTL2P ID|HUgn0002136 DID|LocusLink:2136 CLA|Pseudogene ORG|Homo sapiens SYM|EXTL2P NAM|exostoses (multiple)-like 2 pseudogene CHR|2 MAP|2q24-q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834883 } # EOR GENR { RETE|ID 1 HUgn0002137 CHR 1 8 DID 1 LocusLink:2137 MAP 1 8p21 NAM 1 exostoses (multiple)-like 3 ORG 1 Homo sapiens SYM 1 EXTL3 ID|HUgn0002137 DID|LocusLink:2137 ORG|Homo sapiens RSQ|REFSEQ:NM_001440 RPA|REFPROT:NP_001431 DBA|XM:NM_001440 |NA:AB007042 |NA:AB011091 |NA:AF001690 |NA:AF029231 |NA:AF083551 |NA:BC006363 |NA:BT007353 |NA:U76188 |NA:none PAC|XP:NP_001431 SYM|EXTL3 NAM|exostoses (multiple)-like 3 SYN|REG |RPR |EXTR1 |KIAA0519 FNC|exostoses (multiple)-like 3 |cell growth and/or maintenance ; GO:0008151 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9018 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2137[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836495 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001440 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001440 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9018 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0519 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00532 DBL|UNIGENE:Hs.9018 |OMIM:605744 |SNP:2137 MAP|8p21 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 ENZ|transferase activity, transferring glycosyl groups ; GO:0016757 HG|species == rat; score == 1814; expect == 0.0; MEOW:ref|NP_064482.1| (97%) |species == Mouse; gene == Extl3; score == 1800; expect == 0.0; MEOW:MGgn0014276 (96%) |species == Mosquito; gene == LOC8532; score == 838; expect == 0.0; MEOW:AGgn0008532 (48%) |species == Fruitfly; gene == botv; score == 838; expect == 0.0; MEOW:FBgn0027535 (48%) |species == Worm; gene == rib-2; score == 439; expect == 4e-123; MEOW:CEgn0002444 (34%) |species == Human; gene == EXT2; score == 270; expect == 1.6e-72; MEOW:HUgn0002132 (52%) |species == rice; score == 143; expect == 8.7e-34; MEOW:gnl|TIGR|8354.m04602 (34%) |species == Weed; gene == At3g55830; score == 133; expect == 5.3e-31; MEOW:ATgn0015624 (34%) } # EOR GENR { RETE|ID 1 HUgn0002138 CHR 1 8 DID 1 LocusLink:2138 MAP 1 8q13.3 NAM 1 eyes absent homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 EYA1 ID|HUgn0002138 DID|LocusLink:2138 ORG|Homo sapiens RSQ|REFSEQ:NM_000503 |REFSEQ:NM_172058 |REFSEQ:NM_172059 |REFSEQ:NM_172060 RPA|REFPROT:NP_000494 |REFPROT:NP_742055 |REFPROT:NP_742056 |REFPROT:NP_742057 DBA|XM:NM_000503 |XM:NM_172058 |XM:NM_172059 |XM:NM_172060 |NA:Y10260 |NA:AF467247 |NA:AJ000097 |NA:AJ000098 |NA:AK127798 PAC|XP:NP_000494 |XP:NP_742055 |XP:NP_742056 |XP:NP_742057 SYM|EYA1 NAM|eyes absent homolog 1 (Drosophila) SYN|BOP |BOR FNC|eyes absent 1 isoform a |eyes absent 1 isoform b |eyes absent 1 isoform c |hearing ; GO:0007605 |embryogenesis and morphogenesis ; GO:0007345 REAB|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded |protein may play a role in the developing kidney, branchial arches, eye, and ear. |Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, |branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior |segment anomalies. A similar protein in mice can act as a transcriptional activator. |Four transcript variants encoding three distinct isoforms have been identified for |this gene. CHR|8 PRD|Melnick-Fraser syndrome |Eyes absent, Drosophila, homolog of, 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=94210 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2138[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5215167 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000503 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000503 |http://www.geneclinics.org/query?mim=113650 |http://www.geneclinics.org/query?mim=601653 DBL|UNIGENE:Hs.94210 |OMIM:601653 |SNP:2138 |UWCM:5215167.html MAP|8q13.3 PHP|Anterior segment anomalies and cataract |Branchiootic syndrome |Branchiootorenal syndrome |Branchiootorenal syndrome with cataract HG|species == Mouse; gene == Eya1; score == 954; expect == 0.0; MEOW:MGgn0004148 (92%) |species == Zfish; gene == eya1; score == 894; expect == 0.0; MEOW:ZFgn0000576 (84%) |species == Human; gene == EYA4; score == 780; expect == 0.0; MEOW:HUgn0002070 (67%) |species == rat; score == 770; expect == 0.0; MEOW:ref|XP_217715.2| (73%) |species == rat; score == 632; expect == 0.0; MEOW:ref|XP_230860.2| (62%) |species == Human; gene == EYA2; score == 626; expect == 1e-179; MEOW:HUgn0002139 (67%) |species == Mosquito; score == 412; expect == 3e-115; MEOW:AGgn0015814 (65%) |species == Fruitfly; gene == eya; score == 408; expect == 7e-114; MEOW:FBgn0000320 (64%) } # EOR GENR { RETE|ID 1 HUgn0002139 CHR 1 20 DID 1 LocusLink:2139 MAP 1 20q13.1 NAM 1 eyes absent homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 EYA2 ID|HUgn0002139 DID|LocusLink:2139 ORG|Homo sapiens RSQ|REFSEQ:NM_005244 |REFSEQ:NM_172110 |REFSEQ:NM_172111 |REFSEQ:NM_172112 |REFSEQ:NM_172113 RPA|REFPROT:NP_005235 |REFPROT:NP_742108 |REFPROT:NP_742109 |REFPROT:NP_742110 |REFPROT:NP_742111 DBA|XM:NM_005244 |XM:NM_172110 |XM:NM_172111 |XM:NM_172112 |XM:NM_172113 |NA:Y10261 |NA:AF055015 |NA:AF387364 |NA:AF455147 |NA:AF455148 |NA:AF455149 |NA:AF455150 |NA:AJ007992 |NA:BC000289 |NA:BC008803 |NA:BC013882 |NA:BT006682 |NA:U71207 |NA:U81601 PAC|XP:NP_005235 |XP:NP_742108 |XP:NP_742109 |XP:NP_742110 |XP:NP_742111 SYM|EYA2 NAM|eyes absent homolog 2 (Drosophila) SYN|EAB1 |MGC10614 FNC|eyes absent 2 isoform a |eyes absent 2 isoform b |eyes absent 2 isoform c |mesoderm cell fate specification ; GO:0007501 |eye morphogenesis (sensu Drosophila) ; GO:0007456 REAB|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded |protein may be post-translationally modified and may play a role in eye development. |A similar protein in mice can act as a transcriptional activator. Five transcript |variants encoding three distinct isoforms have been identified for this gene. CHR|20 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=29279 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2139[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6276679 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_172113 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_172113 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=29279 DBL|UNIGENE:Hs.29279 |OMIM:601654 |SNP:2139 MAP|20q13.1 HG|species == rat; score == 894; expect == 0.0; MEOW:ref|XP_230860.2| (86%) |species == Mouse; gene == Eya2; score == 683; expect == 0.0; MEOW:MGgn0004149 (70%) |species == Human; gene == EYA1; score == 626; expect == 1e-179; MEOW:HUgn0002138 (67%) |species == Mouse; gene == Eya1; score == 611; expect == 3e-175; MEOW:MGgn0004148 (64%) |species == Zfish; gene == eya1; score == 609; expect == 7e-176; MEOW:ZFgn0000576 (67%) |species == Human; gene == EYA4; score == 591; expect == 4e-169; MEOW:HUgn0002070 (60%) |species == Mouse; gene == Eya4; score == 555; expect == 2e-158; MEOW:MGgn0004151 (58%) |species == Mosquito; score == 399; expect == 1e-111; MEOW:AGgn0015814 (62%) |species == Fruitfly; gene == eya; score == 394; expect == 5e-110; MEOW:FBgn0000320 (56%) |species == Weed; gene == At2g35320; score == 133; expect == 1.4e-31; MEOW:ATgn0007051 (32%) } # EOR GENR { RETE|ID 1 HUgn0002140 CHR 1 1 DID 1 LocusLink:2140 MAP 1 1p36 NAM 1 eyes absent homolog 3 (Drosophila) ORG 1 Homo sapiens SYM 1 EYA3 ID|HUgn0002140 DID|LocusLink:2140 ORG|Homo sapiens RSQ|REFSEQ:NM_001990 |REFSEQ:NM_172098 RPA|REFPROT:NP_001981 |REFPROT:NP_742096 DBA|XM:NM_001990 |XM:NM_172098 |NA:Y10262 |NA:AJ007991 |NA:AL603098 |NA:BC029500 |NA:BC041667 |NA:BQ018346 |NA:BX648945 |NA:U81602 |NA:none PAC|XP:NP_001981 |XP:NP_742096 SYM|EYA3 NAM|eyes absent homolog 3 (Drosophila) SYN|DKFZp686C132 FNC|eyes absent 3 isoform a |eyes absent 3 isoform b REAB|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded |protein may act as a transcriptional activator and have a role during development. |A similar protein in mice can act as a transcriptional activator. Two transcript |variants encoding distinct isoforms have been identified for this gene. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=406072 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2140[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6276681 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001990 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001990 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=406072 DBL|UNIGENE:Hs.406072 |OMIM:601655 |SNP:2140 MAP|1p36 HG|species == rat; score == 816; expect == 0.0; MEOW:ref|XP_232735.2| (83%) |species == Mouse; gene == Eya3; score == 814; expect == 0.0; MEOW:MGgn0004150 (83%) |species == Human; gene == EYA4; score == 557; expect == 8e-159; MEOW:HUgn0002070 (56%) |species == Human; gene == EYA1; score == 511; expect == 6e-145; MEOW:HUgn0002138 (54%) |species == Zfish; gene == eya1; score == 480; expect == 5e-137; MEOW:ZFgn0000576 (48%) |species == Mosquito; score == 368; expect == 5e-102; MEOW:AGgn0015814 (59%) |species == Fruitfly; gene == eya; score == 357; expect == 1.4e-98; MEOW:FBgn0000320 (58%) } # EOR GENR { RETE|ID 1 HUgn0002141 CHR 1 19 DID 1 LocusLink:2141 MAP 1 19p13.1-q13.11 NAM 1 eye color 1 (green/blue) ORG 1 Homo sapiens SYM 1 EYCL1 ID|HUgn0002141 DID|LocusLink:2141 ORG|Homo sapiens SYM|EYCL1 NAM|eye color 1 (green/blue) SYN|GEY CHR|19 DBL|OMIM:227240 MAP|19p13.1-q13.11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119269 } # EOR GENR { RETE|ID 1 HUgn0002143 DID 1 LocusLink:2143 NAM 1 ferredoxin 2 ORG 1 Homo sapiens SYM 1 FDX2 ID|HUgn0002143 DID|LocusLink:2143 ORG|Homo sapiens SYM|FDX2 NAM|ferredoxin 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128254 } # EOR GENR { RETE|ID 1 HUgn0002144 CHR 1 15 DID 1 LocusLink:2144 MAP 1 15q11-q21 NAM 1 eye color 3 (brown) ORG 1 Homo sapiens SYM 1 EYCL3 ID|HUgn0002144 DID|LocusLink:2144 ORG|Homo sapiens SYM|EYCL3 NAM|eye color 3 (brown) SYN|BEY |BEY1 |BEY2 |EYCL |EYCL2 CHR|15 PRD|eye color 2 (central brown) |total brown iris pigmentation DBL|OMIM:227220 MAP|15q11-q21 PHP|Eye color, brown URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:4642815 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4590306 } # EOR GENR { RETE|ID 1 HUgn0002145 CHR 1 17 DID 1 LocusLink:2145 MAP 1 17q21.1-q21.3 NAM 1 enhancer of zeste homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 EZH1 ID|HUgn0002145 DID|LocusLink:2145 ORG|Homo sapiens RSQ|REFSEQ:NM_001991 RPA|REFPROT:NP_001982 DBA|XM:NM_001991 |NA:AB002386 |NA:AB004818 |NA:AL833159 |NA:BC015882 |NA:BT009782 |NA:U50315 |NA:none PAC|XP:NP_001982 SYM|EZH1 NAM|enhancer of zeste homolog 1 (Drosophila) SYN|KIAA0388 FNC|enhancer of zeste homolog 1 |regulation of transcription, DNA-dependent ; GO:0006355 |embryogenesis and morphogenesis ; GO:0007345 CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=194669 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2145[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1230513 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001991 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001991 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=194669 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0388 DBL|UNIGENE:Hs.194669 |OMIM:601674 |SNP:2145 MAP|17q21.1-q21.3 ENZ|chromatin binding ; GO:0003682 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1500; expect == 0.0; MEOW:ref|XP_220986.2| (94%) |species == Mouse; gene == Ezh1; score == 1497; expect == 0.0; MEOW:MGgn0004155 (97%) |species == Human; gene == LOC378198; score == 979; expect == 0.0; MEOW:HUgn0378198 (64%) |species == Human; gene == EZH2; score == 970; expect == 0.0; MEOW:HUgn0002146 (63%) |species == Mosquito; score == 749; expect == 0.0; MEOW:AGgn0012923 (50%) |species == Fruitfly; gene == E(z); score == 732; expect == 0.0; MEOW:FBgn0000629 (50%) |species == rice; score == 260; expect == 3.8e-69; MEOW:gnl|TIGR|8354.m01563 (40%) |species == Weed; gene == At2g23380; score == 255; expect == 5.6e-68; MEOW:ATgn0007957 (42%) |species == Weed; gene == At4g02020; score == 253; expect == 2.8e-67; MEOW:ATgn0018469 (40%) |species == Weed; gene == At1g02580; score == 251; expect == 8.1e-67; MEOW:ATgn0003446 (41%) |species == rice; score == 247; expect == 4.4e-65; MEOW:gnl|TIGR|8360.m01786 (40%) } # EOR GENR { RETE|ID 1 HUgn0002146 CHR 1 7 DID 1 LocusLink:2146 MAP 1 7q35-q36 NAM 1 enhancer of zeste homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 EZH2 ID|HUgn0002146 DID|LocusLink:2146 ORG|Homo sapiens RSQ|REFSEQ:NM_004456 |REFSEQ:NM_152998 RPA|REFPROT:NP_004447 |REFPROT:NP_694543 DBA|XM:NM_004456 |XM:NM_152998 |NA:AC006323 |NA:AK092676 |NA:BC010858 |NA:BG829016 |NA:BM974565 |NA:U61145 |NA:X95653 |NA:none PAC|XP:NP_004447 |XP:NP_694543 SYM|EZH2 NAM|enhancer of zeste homolog 2 (Drosophila) SYN|EZH1 |ENX-1 |MGC9169 FNC|enhancer of zeste 2 isoform a |enhancer of zeste 2 isoform b |establishment and/or maintenance of chromatin architecture ; GO:0006325 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes a member of the Polycomb-group (PcG) family. PcG family members |form multimeric protein complexes, which are involved in maintaining the transcriptional |repressive state of genes over successive cell generations. This protein associates |with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked |nuclear protein. This protein may play a role in the hematopoietic and central nervous |systems. Two transcript variants encoding distinct isoforms have been identified |for this gene. CHR|7 PRD|enhancer of zeste 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444082 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2146[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:701613 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004456 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004456 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=444082 DBL|UNIGENE:Hs.444082 |OMIM:601573 |SNP:2146 MAP|7q35-q36 ENZ|DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Human; gene == LOC378198; score == 1394; expect == 0.0; MEOW:HUgn0378198 (99%) |species == Mouse; gene == Ezh2; score == 1372; expect == 0.0; MEOW:MGgn0004156 (97%) |species == rat; score == 957; expect == 0.0; MEOW:ref|XP_220986.2| (61%) |species == Mosquito; score == 798; expect == 0.0; MEOW:AGgn0012923 (53%) |species == Fruitfly; gene == E(z); score == 764; expect == 0.0; MEOW:FBgn0000629 (53%) |species == rice; score == 261; expect == 1.7e-69; MEOW:gnl|TIGR|8360.m01786 (41%) |species == Weed; gene == At4g02020; score == 256; expect == 2.5e-68; MEOW:ATgn0018469 (41%) |species == Weed; gene == At2g23380; score == 254; expect == 1.3e-67; MEOW:ATgn0007957 (40%) |species == Weed; gene == At1g02580; score == 253; expect == 2.8e-67; MEOW:ATgn0003446 (38%) |species == rice; score == 252; expect == 6.7e-67; MEOW:gnl|TIGR|8354.m01563 (36%) } # EOR GENR { RETE|ID 1 HUgn0002147 CHR 1 11 DID 1 LocusLink:2147 MAP 1 11p11-q12 NAM 1 coagulation factor II (thrombin) ORG 1 Homo sapiens SYM 1 F2 ID|HUgn0002147 DID|LocusLink:2147 ORG|Homo sapiens RSQ|REFSEQ:NM_000506 RPA|REFPROT:NP_000497 DBA|XM:NM_000506 |NA:M17262 |NA:S50162 |NA:BC051332 |NA:M33031 |NA:V00595 |NA:none PAC|XP:NP_000497 SYM|F2 NAM|coagulation factor II (thrombin) SYN|PT FNC|coagulation factor II precursor |tyrosine phosphorylation of STAT protein ; GO:0007260 |caspase activation ; GO:0006919 |response to wounding ; GO:0009611 |STAT protein nuclear translocation ; GO:0007262 |acute-phase response ; GO:0006953 |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 |development ; GO:0007275 |apoptosis ; GO:0006915 |regulation of cell cycle ; GO:0000074 REAB|Coagulation factor II is proteolytically cleaved to form thrombin in the first step |of the coagulation cascade which ultimately results in the stemming of blood loss. | F2 also plays a role in maintaining vascular integrity during development and postnatal |life. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. CHR|11 PRD|prothrombin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76530 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2147[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119894 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000506 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000506 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76530 |http://www.geneclinics.org/query?mim=176930 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA157 DBL|UNIGENE:Hs.76530 |OMIM:176930 |SNP:2147 ENZ|EC:3.4.21.5 |thrombin activity ; GO:0003809 |trypsin activity ; GO:0004295 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|11p11-q12 PHP|Dysprothrombinemia |Hyperprothrombinemia |Hypoprothrombinemia CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == Mouse; gene == F2; score == 1067; expect == 0.0; MEOW:MGgn0004161 (81%) |species == rat; score == 1044; expect == 0.0; MEOW:ref|NP_075213.1| (79%) |species == Human; gene == PLG; score == 242; expect == 5.2e-64; MEOW:HUgn0005340 (30%) |species == Human; gene == LPA; score == 238; expect == 9.8e-63; MEOW:HUgn0004018 (31%) |species == Zfish; gene == mst1; score == 187; expect == 1.0e-48; MEOW:ZFgn0002616 (27%) |species == chimp; score == 161; expect == 2.1e-41; MEOW:sp|Q95ND7|Q95ND7 (38%) |species == Zfish; gene == f7; score == 160; expect == 1.0e-40; MEOW:ZFgn0002317 (35%) |species == Fruitfly; gene == CG4386; score == 159; expect == 3.4e-39; MEOW:FBgn0034661 (38%) |species == Mosquito; score == 154; expect == 6.1e-38; MEOW:AGgn0012201 (38%) |species == Mosquito; gene == LOC11601; score == 153; expect == 1.4e-37; MEOW:AGgn0011601 (37%) |species == Fruitfly; gene == CG18735; score == 151; expect == 5.4e-37; MEOW:FBgn0042098 (38%) |species == Mosquito; gene == LOC17112; score == 150; expect == 1.5e-36; MEOW:AGgn0017112 (31%) |species == chimp; score == 150; expect == 4.8e-38; MEOW:sp|Q95ND6|Q95ND6 (36%) |species == Fruitfly; gene == CG9372; score == 149; expect == 2.0e-36; MEOW:FBgn0036891 (36%) |species == Fruitfly; gene == CG4914; score == 148; expect == 4.6e-36; MEOW:FBgn0036436 (38%) |species == Mosquito; gene == LOC11642; score == 145; expect == 4.8e-35; MEOW:AGgn0011642 (37%) |species == Fruitfly; gene == CG11824; score == 145; expect == 3.9e-35; MEOW:FBgn0033360 (34%) |species == Mosquito; score == 144; expect == 8.2e-35; MEOW:AGgn0025294 (36%) |species == Fruitfly; gene == CG8172; score == 144; expect == 6.6e-35; MEOW:FBgn0033362 (35%) |species == Mosquito; gene == LOC4000; score == 142; expect == 3.1e-34; MEOW:AGgn0004000 (39%) |species == Mosquito; gene == LOC10961; score == 142; expect == 4.1e-34; MEOW:AGgn0010961 (36%) |species == Mosquito; gene == LOC12218; score == 142; expect == 2.4e-34; MEOW:AGgn0012218 (37%) |species == Fruitfly; gene == Sb; score == 141; expect == 5.6e-34; MEOW:FBgn0003319 (34%) |species == Mosquito; gene == LOC7690; score == 140; expect == 1.2e-33; MEOW:AGgn0007690 (31%) |species == Mosquito; score == 140; expect == 1.6e-33; MEOW:AGgn0028900 (34%) |species == Fruitfly; gene == Tequila; score == 136; expect == 3.1e-32; MEOW:FBgn0023479 (36%) |species == Fruitfly; gene == CG7432; score == 133; expect == 2.0e-31; MEOW:FBgn0038727 (34%) |species == Fruitfly; gene == CG8170; score == 132; expect == 2.6e-31; MEOW:FBgn0033365 (30%) } # EOR GENR { RETE|ID 1 HUgn0002148 CHR 1 X DID 1 LocusLink:2148 MAP 1 Xpter-q25 NAM 1 coagulation factor II (thrombin)-like ORG 1 Homo sapiens SYM 1 F2L ID|HUgn0002148 DID|LocusLink:2148 ORG|Homo sapiens SYM|F2L NAM|coagulation factor II (thrombin)-like CHR|X MAP|Xpter-q25 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119123 } # EOR GENR { RETE|ID 1 HUgn0002149 CHR 1 5 DID 1 LocusLink:2149 MAP 1 5q13 NAM 1 coagulation factor II (thrombin) receptor ORG 1 Homo sapiens SYM 1 F2R ID|HUgn0002149 DID|LocusLink:2149 ORG|Homo sapiens RSQ|REFSEQ:NM_001992 RPA|REFPROT:NP_001983 DBA|XM:NM_001992 |NA:AF054633 |NA:U35634 |NA:BC002464 |NA:BC016059 |NA:BC051909 |NA:BT007279 |NA:M62424 |NA:none PAC|XP:NP_001983 SYM|F2R NAM|coagulation factor II (thrombin) receptor SYN|TR |CF2R |PAR1 FNC|coagulation factor II receptor precursor |tyrosine phosphorylation of STAT protein ; GO:0007260 |caspase activation ; GO:0006919 |response to wounding ; GO:0009611 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |STAT protein nuclear translocation ; GO:0007262 |embryogenesis and morphogenesis ; GO:0007345 |blood coagulation ; GO:0007596 |invasive growth ; GO:0007125 |development ; GO:0007275 |apoptosis ; GO:0006915 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 REAB|Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation |of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. | F2R is a G-protein coupled receptor family member. CHR|5 PRD|thrombin receptor |protease-activated receptor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=128087 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2149[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127737 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001992 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001992 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=128087 DBL|UNIGENE:Hs.128087 |OMIM:187930 |SNP:2149 |UWCM:127737.html MAP|5q13 ENZ|thrombin receptor activity ; GO:0015057 |receptor binding ; GO:0005102 |rhodopsin-like receptor activity ; GO:0001584 CEL|Golgi apparatus ; GO:0005794 |integral to plasma membrane ; GO:0005887 HG|species == rat; score == 627; expect == 3e-180; MEOW:ref|NP_037082.1| (77%) |species == Mouse; gene == F2r; score == 610; expect == 2e-175; MEOW:MGgn0004162 (77%) |species == Human; gene == F2RL1; score == 235; expect == 4.8e-62; MEOW:HUgn0002150 (41%) |species == Human; gene == F2RL2; score == 193; expect == 1.1e-49; MEOW:HUgn0002151 (33%) } # EOR GENR { RETE|ID 1 HUgn0002150 CHR 1 5 DID 1 LocusLink:2150 MAP 1 5q13 NAM 1 coagulation factor II (thrombin) receptor-like 1 ORG 1 Homo sapiens SYM 1 F2RL1 ID|HUgn0002150 DID|LocusLink:2150 ORG|Homo sapiens RSQ|REFSEQ:NM_005242 RPA|REFPROT:NP_005233 DBA|XM:NM_005242 |NA:AF400075 |NA:U36753 |NA:Z49993 |NA:Z49994 |NA:AY336105 |NA:BC012453 |NA:BC018130 |NA:BT009856 |NA:U34038 |NA:none PAC|XP:NP_005233 SYM|F2RL1 NAM|coagulation factor II (thrombin) receptor-like 1 SYN|PAR2 |GPR11 FNC|coagulation factor II (thrombin) receptor-like 1 precursor |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |blood coagulation ; GO:0007596 REAB|Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large |family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding |proteins. F2RL1 is also a member of the protease-activated receptor family. It is |activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage |of its extracellular amino terminus. The new amino terminus functions as a tethered |ligand and activates the receptor. The F2RL1 gene contains two exons and is widely |expressed in human tissues. The predicted protein sequence is 83% identical to the |mouse receptor sequence. CHR|5 PRD|G protein-coupled receptor-11 |protease-activated receptor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154299 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2150[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439124 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005242 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005242 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154299 DBL|UNIGENE:Hs.154299 |OMIM:600933 |SNP:2150 MAP|5q13 ENZ|thrombin receptor activity ; GO:0015057 |receptor binding ; GO:0005102 |receptor activity ; GO:0004872 |rhodopsin-like receptor activity ; GO:0001584 CEL|Golgi apparatus ; GO:0005794 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == F2rl1; score == 632; expect == 0.0; MEOW:MGgn0004163 (83%) |species == rat; score == 628; expect == 1e-180; MEOW:ref|NP_446349.1| (82%) |species == Human; gene == F2R; score == 235; expect == 4.8e-62; MEOW:HUgn0002149 (41%) |species == Human; gene == F2RL2; score == 218; expect == 4.3e-57; MEOW:HUgn0002151 (36%) |species == Human; gene == P2RY8; score == 202; expect == 3.5e-52; MEOW:HUgn0286530 (36%) |species == Human; gene == F2RL3; score == 194; expect == 9.4e-50; MEOW:HUgn0009002 (35%) |species == chimp; score == 128; expect == 9.1e-32; MEOW:sp|Q9GLN9|Q9GLN9 (26%) } # EOR GENR { RETE|ID 1 HUgn0002151 CHR 1 5 DID 1 LocusLink:2151 MAP 1 5q13 NAM 1 coagulation factor II (thrombin) receptor-like 2 ORG 1 Homo sapiens SYM 1 F2RL2 ID|HUgn0002151 DID|LocusLink:2151 ORG|Homo sapiens RSQ|REFSEQ:NM_004101 RPA|REFPROT:NP_004092 DBA|XM:NM_004101 |NA:BM989640 |NA:BX537386 |NA:U92971 |NA:none PAC|XP:NP_004092 SYM|F2RL2 NAM|coagulation factor II (thrombin) receptor-like 2 SYN|PAR3 FNC|coagulation factor II (thrombin) receptor-like 2 precursor |phosphatidylinositol-4,5-bisphosphate hydrolysis ; GO:0007203 |response to wounding ; GO:0009611 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |blood coagulation ; GO:0007596 REAB|Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large |family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding |proteins. F2RL2 is also a member of the protease-activated receptor family and activated |by thrombin. F2RL2 is activated by proteolytic cleavage of its extracellular amino |terminus. The new amino terminus functions as a tethered ligand and activates the |receptor. F2RL2 is a cofactor for F2RL3 activation by thrombin. It mediates thrombin-triggered |phosphoinositide hydrolysis and is expressed in a variety of tissues. CHR|5 PRD|protease-activated receptor 3 |Coagulation factor II receptor-like 2 (protease-actovated receptor 3) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=42502 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9294463 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004101 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004101 DBL|UNIGENE:Hs.42502 |OMIM:601919 |SNP:2151 MAP|5q13 ENZ|thrombin receptor activity ; GO:0015057 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == F2rl2; score == 550; expect == 5e-157; MEOW:MGgn0004164 (71%) |species == rat; score == 226; expect == 2.1e-59; MEOW:ref|NP_446349.1| (39%) |species == Human; gene == F2RL1; score == 218; expect == 4.3e-57; MEOW:HUgn0002150 (36%) |species == Human; gene == F2RL3; score == 204; expect == 8.4e-53; MEOW:HUgn0009002 (36%) |species == Human; gene == F2R; score == 193; expect == 1.1e-49; MEOW:HUgn0002149 (33%) |species == rat; score == 188; expect == 6.3e-48; MEOW:ref|NP_037082.1| (36%) |species == Human; gene == P2RY8; score == 176; expect == 1.4e-44; MEOW:HUgn0286530 (33%) |species == chimp; score == 131; expect == 1.0e-32; MEOW:sp|P55920|IL8A_PANTR (31%) |species == chimp; score == 128; expect == 1.1e-31; MEOW:sp|Q8HZN8|Q8HZN8 (31%) |species == chimp; score == 127; expect == 2.5e-31; MEOW:sp|Q28807|IL8B_PANTR (29%) } # EOR GENR { RETE|ID 1 HUgn0002152 CHR 1 1 DID 1 LocusLink:2152 MAP 1 1p22-p21 NAM 1 coagulation factor III (thromboplastin, tissue factor) ORG 1 Homo sapiens SYM 1 F3 ID|HUgn0002152 DID|LocusLink:2152 ORG|Homo sapiens RSQ|REFSEQ:NM_001993 RPA|REFPROT:NP_001984 DBA|XM:NM_001993 |NA:J02846 |NA:AF497569 |NA:AF497570 |NA:AF497571 |NA:BC011029 |NA:J02931 |NA:M16553 |NA:M27436 |NA:X07680 |NA:none PAC|XP:NP_001984 SYM|F3 NAM|coagulation factor III (thromboplastin, tissue factor) SYN|TF |TFA |CD142 FNC|coagulation factor III precursor |blood coagulation ; GO:0007596 |immune response ; GO:0006955 REAB|This gene encodes coagulation factor III which is a cell surface glycoprotein. This |factor enables cells to initiate the blood coagulation cascades, and it functions |as the high-affinity receptor for the coagulation factor VII. The resulting complex |provides a catalytic event that is responsible for initiation of the coagulation |protease cascades by specific limited proteolysis. Unlike the other cofactors of |these protease cascades, which circulate as nonfunctional precursors, this factor |is a potent initiator that is fully functional when expressed on cell surfaces. |There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. |This protein is the only one in the coagulation pathway for which a congenital deficiency |has not been described. CHR|1 PRD|Coagulation factor III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=62192 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2152[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119895 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001993 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001993 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=62192 DBL|UNIGENE:Hs.62192 |OMIM:134390 |SNP:2152 |PROW:787762689 |UWCM:119895.html MAP|1p22-p21 ENZ|blood coagulation factor activity ; GO:0003801 |hematopoietin/interferon-class (D200-domain) cytokine receptor activity ; GO:0004896 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == F3; score == 277; expect == 4.3e-75; MEOW:MGgn0004166 (55%) |species == rat; score == 263; expect == 1.1e-70; MEOW:ref|NP_037189.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0002153 CHR 1 1 DID 1 LocusLink:2153 MAP 1 1q23 NAM 1 coagulation factor V (proaccelerin, labile factor) ORG 1 Homo sapiens SYM 1 F5 ID|HUgn0002153 DID|LocusLink:2153 ORG|Homo sapiens RSQ|REFSEQ:NM_000130 RPA|REFPROT:NP_000121 DBA|XM:NM_000130 |NA:L32755 |NA:L32779 |NA:AJ297255 |NA:M14335 |NA:M16967 |NA:M94010 |NA:none PAC|XP:NP_000121 SYM|F5 NAM|coagulation factor V (proaccelerin, labile factor) SYN|FVL |PCCF FNC|coagulation factor V precursor |blood coagulation ; GO:0007596 |cell adhesion ; GO:0007155 REAB|This gene encodes coagulation factor V which is an essential factor of the blood |coagulation cascade. This factor circulates in plasma, and is converted to the active |form by the release of the activation peptide by thrombin during coagulation. This |generates a heavy chain and a light chain which are held together by calcium ions. |The active factor V is a cofactor that participates with activated coagulation factor |X to activate prothrombin to thrombin. Defects in this gene result in either an |autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, |which is known as activated protein C resistance. CHR|1 PRD|labile factor |factor V Leiden URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=30054 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2153[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119896 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000130 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000130 |http://www.geneclinics.org/query?mim=227400 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA159 DBL|UNIGENE:Hs.30054 |OMIM:227400 |SNP:2153 MAP|1q23 PHP|Hemorrhagic diathesis due to factor V deficiency |Thromboembolism susceptibility due to factor V Leiden ENZ|blood coagulation factor activity ; GO:0003801 |copper ion binding ; GO:0005507 HG|species == Mouse; gene == F5; score == 2956; expect == 0.0; MEOW:MGgn0004167 (69%) |species == rat; score == 1733; expect == 0.0; MEOW:ref|XP_222831.2| (58%) |species == Human; gene == F8; score == 533; expect == 4e-151; MEOW:HUgn0002157 (41%) |species == Zfish; gene == cp; score == 357; expect == 1.1e-98; MEOW:ZFgn0002165 (35%) } # EOR GENR { RETE|ID 1 HUgn0002155 CHR 1 13 DID 1 LocusLink:2155 MAP 1 13q34 NAM 1 coagulation factor VII (serum prothrombin conversion accelerator) ORG 1 Homo sapiens SYM 1 F7 ID|HUgn0002155 DID|LocusLink:2155 ORG|Homo sapiens RSQ|REFSEQ:NM_000131 |REFSEQ:NM_019616 RPA|REFPROT:NP_000122 |REFPROT:NP_062562 DBA|XM:NM_000131 |XM:NM_019616 |NA:J02933 |NA:U14580 |NA:U40852 |NA:M13232 |NA:none PAC|XP:NP_000122 |XP:NP_062562 SYM|F7 NAM|coagulation factor VII (serum prothrombin conversion accelerator) FNC|coagulation factor VII precursor isoform a |coagulation factor VII precursor isoform b |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 REAB|This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential |for hemostasis. This factor circulates in the blood in a zymogen form, and is converted |to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor |proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic |domain and a light chain containing 2 EGF-like domains are generated, and two chains |are held together by a disulfide bond. In the presence of factor III and calcium |ions, the activated factor then further activates the coagulation cascade by converting |factor IX to factor IXa and/or factor X to factor Xa. Alternative splicing of this |gene results in 2 transcripts. Defects in this gene can cause coagulopathy. CHR|13 PRD|eptacog alfa |Coagulation factor VII URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2155[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119897 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000131 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000131 |http://europium.mrc.rpms.ac.uk/usr/WWW/WebPages/FVII/database.dir/titlepage.htm DBL|UNIGENE:Hs.36989 |OMIM:227500 |SNP:2155 ENZ|EC:3.4.21.21 |trypsin activity ; GO:0004295 |blood coagulation factor VII activity ; GO:0003802 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|13q34 PHP|Factor VII deficiency |Myocardial infarction, decreased susceptibility to CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == F7; score == 659; expect == 0.0; MEOW:MGgn0004168 (71%) |species == rat; score == 625; expect == 1e-179; MEOW:ref|NP_690059.1| (70%) |species == Zfish; gene == f7; score == 390; expect == 8e-109; MEOW:ZFgn0002317 (48%) |species == Zfish; gene == f7i; score == 368; expect == 4e-102; MEOW:ZFgn0009622 (44%) |species == chimp; score == 351; expect == 5.5e-97; MEOW:sp|Q95ND7|Q95ND7 (40%) |species == Human; gene == F9; score == 350; expect == 7.2e-97; MEOW:HUgn0002158 (40%) |species == Human; gene == F10; score == 344; expect == 9.5e-95; MEOW:HUgn0002159 (38%) |species == chimp; score == 341; expect == 4.4e-94; MEOW:sp|Q95ND6|Q95ND6 (40%) |species == Human; gene == PROC; score == 290; expect == 1.2e-78; MEOW:HUgn0005624 (39%) |species == Fruitfly; gene == CG13744; score == 138; expect == 6.0e-33; MEOW:FBgn0033363 (35%) |species == Fruitfly; gene == CG9294; score == 137; expect == 5.8e-33; MEOW:FBgn0034666 (37%) |species == Mosquito; gene == LOC17184; score == 134; expect == 9.8e-32; MEOW:AGgn0017184 (32%) |species == Mosquito; score == 134; expect == 7.9e-32; MEOW:AGgn0028900 (35%) |species == Fruitfly; gene == CG11824; score == 133; expect == 1.1e-31; MEOW:FBgn0033360 (34%) |species == Fruitfly; gene == Sb; score == 132; expect == 3.1e-31; MEOW:FBgn0003319 (36%) } # EOR GENR { RETE|ID 1 HUgn0002156 CHR 1 8 DID 1 LocusLink:2156 MAP 1 8p23.2-p23.1 NAM 1 coagulation factor VII regulator ORG 1 Homo sapiens SYM 1 F7R ID|HUgn0002156 DID|LocusLink:2156 ORG|Homo sapiens SYM|F7R NAM|coagulation factor VII regulator SYN|F7E CHR|8 DBL|OMIM:134450 MAP|8p23.2-p23.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119898 } # EOR GENR { RETE|ID 1 HUgn0002157 CHR 1 X DID 1 LocusLink:2157 MAP 1 Xq28 NAM 1 coagulation factor VIII, procoagulant component (hemophilia A) ORG 1 Homo sapiens SYM 1 F8 ID|HUgn0002157 DID|LocusLink:2157 ORG|Homo sapiens RSQ|REFSEQ:NM_000132 |REFSEQ:NM_019863 RPA|REFPROT:NP_000123 |REFPROT:NP_063916 DBA|XM:NM_000132 |XM:NM_019863 |NA:AF081784 |NA:AJ131818 |NA:M88648 |NA:BC022513 |NA:K01740 |NA:M14113 |NA:M90707 |NA:X01179 PAC|XP:NP_000123 |XP:NP_063916 SYM|F8 NAM|coagulation factor VIII, procoagulant component (hemophilia A) SYN|AHF |F8B |F8C |HEMA |FVIII |DXS1253E FNC|coagulation factor VIII isoform a precursor |coagulation factor VIII isoform b precursor |blood coagulation ; GO:0007596 REAB|This gene encodes coagulation factor VIII, which participates in the intrinsic pathway |of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence |of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene |produces two alternatively spliced transcripts. Transcript variant 1 encodes a large |glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand |factor in a noncovalent complex. This protein undergoes multiple cleavage events. |Transcript variant 2 encodes a putative small protein, isoform b, which consists |primarily of the phospholipid binding domain of factor VIIIc. This binding domain |is essential for coagulant activity. Defects in this gene results in hemophilia |A, a common recessive X-linked coagulation disorder. CHR|X PRD|Factor VIII F8B |procoagulant component |coagulation factor VIIIc URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=413083 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2157[loc]&TAXID=9606 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000132 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000132 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=413083 |http://www.geneclinics.org/query?mim=306700 |http://europium.mrc.rpms.ac.uk/usr/WWW/WebPages/main.dir/main.htm DBL|UNIGENE:Hs.413083 |OMIM:306700 |SNP:2157 |UWCM:119124.html |IXDB:7701 MAP|Xq28 PHP|Hemophilia A ENZ|blood coagulation factor activity ; GO:0003801 HG|species == Mouse; gene == F8; score == 3300; expect == 0.0; MEOW:MGgn0004169 (72%) |species == rat; score == 2228; expect == 0.0; MEOW:ref|XP_217580.2| (51%) |species == Human; gene == F5; score == 533; expect == 4e-151; MEOW:HUgn0002153 (41%) |species == Zfish; gene == cp; score == 336; expect == 2.7e-92; MEOW:ZFgn0002165 (32%) } # EOR GENR { RETE|ID 1 HUgn0002158 CHR 1 X DID 1 LocusLink:2158 MAP 1 Xq27.1-q27.2 NAM 1 coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ORG 1 Homo sapiens SYM 1 F9 ID|HUgn0002158 DID|LocusLink:2158 ORG|Homo sapiens RSQ|REFSEQ:NM_000133 RPA|REFPROT:NP_000124 DBA|XM:NM_000133 |NA:AF486577 |NA:K02053 |NA:K02402 |NA:M19063 |NA:S66752 |NA:S68634 |NA:J00136 |NA:J00137 |NA:M11309 |NA:M35672 |NA:none PAC|XP:NP_000124 SYM|F9 NAM|coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) SYN|FIX |PTC |HEMB FNC|coagulation factor IX |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 REAB|This gene encodes vitamin K-dependent coagulation factor IX that circulates in the |blood as an inactive zymogen. This factor is converted to an active form by factor |XIa, which excises the activation peptide and thus generates a heavy chain and a |light chain held together by one or more disulfide bonds. The role of this activated |factor IX in the blood coagulation cascade is to activate factor X to its active |form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. |Alterations of this gene, including point mutations, insertions and deletions, cause |factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia |B or Christmas disease. CHR|X PRD|Factor 9 |Factor IX |Christmas factor |Coagulation factor IX (plasma thromboplastic component) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1330 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2158[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119900 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000133 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000133 |http://www.geneclinics.org/query?mim=306900 |http://www.umds.ac.uk/molgen/ DBL|UNIGENE:Hs.1330 |OMIM:306900 |SNP:2158 |UWCM:119900.html |IXDB:52101 ENZ|EC:3.4.21.22 |blood coagulation factor IX activity ; GO:0003803 |trypsin activity ; GO:0004295 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|Xq27.1-q27.2 PHP|Hemophilia B |Warfarin sensitivity CEL|extracellular space ; GO:0005615 HG|species == chimp; score == 968; expect == 0.0; MEOW:sp|Q95ND7|Q95ND7 (99%) |species == chimp; score == 939; expect == 0.0; MEOW:sp|Q95ND6|Q95ND6 (97%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_346366.1| (73%) |species == Mouse; gene == F10; score == 407; expect == 3e-114; MEOW:MGgn0004158 (45%) |species == Human; gene == F10; score == 396; expect == 2e-110; MEOW:HUgn0002159 (44%) |species == Mouse; gene == F7; score == 359; expect == 1.7e-99; MEOW:MGgn0004168 (41%) |species == Human; gene == F7; score == 350; expect == 7.2e-97; MEOW:HUgn0002155 (40%) |species == Zfish; gene == f7; score == 331; expect == 2.4e-92; MEOW:ZFgn0002317 (41%) |species == Zfish; gene == f7i; score == 285; expect == 1.9e-78; MEOW:ZFgn0009622 (37%) |species == Mosquito; score == 172; expect == 1.5e-43; MEOW:AGgn0012201 (38%) |species == Mosquito; gene == LOC11601; score == 166; expect == 1.4e-41; MEOW:AGgn0011601 (38%) |species == Mosquito; gene == LOC4000; score == 164; expect == 4.0e-41; MEOW:AGgn0004000 (37%) |species == Fruitfly; gene == CG4386; score == 164; expect == 5.6e-41; MEOW:FBgn0034661 (37%) |species == Mosquito; gene == LOC12218; score == 162; expect == 1.2e-40; MEOW:AGgn0012218 (35%) |species == Mosquito; score == 159; expect == 1.7e-39; MEOW:AGgn0025294 (35%) |species == Worm; gene == C07G1.1; score == 159; expect == 1.1e-39; MEOW:CEgn0004322 (40%) |species == Mosquito; gene == LOC22018; score == 158; expect == 3.9e-39; MEOW:AGgn0022018 (38%) |species == Fruitfly; gene == CG4914; score == 156; expect == 1.2e-38; MEOW:FBgn0036436 (34%) |species == Mosquito; gene == LOC14938; score == 155; expect == 2.5e-38; MEOW:AGgn0014938 (36%) |species == Fruitfly; gene == Sb; score == 154; expect == 7.6e-38; MEOW:FBgn0003319 (36%) |species == Mosquito; gene == LOC17112; score == 153; expect == 1.2e-37; MEOW:AGgn0017112 (31%) |species == Fruitfly; gene == CG18735; score == 153; expect == 1.3e-37; MEOW:FBgn0042098 (35%) |species == Mosquito; gene == LOC11642; score == 152; expect == 1.3e-37; MEOW:AGgn0011642 (35%) |species == Fruitfly; gene == CG9372; score == 152; expect == 1.7e-37; MEOW:FBgn0036891 (34%) |species == Mosquito; gene == LOC12216; score == 148; expect == 4.0e-36; MEOW:AGgn0012216 (37%) |species == Fruitfly; gene == CG11824; score == 147; expect == 5.5e-36; MEOW:FBgn0033360 (34%) |species == Fruitfly; gene == CG4613; score == 147; expect == 5.5e-36; MEOW:FBgn0036427 (33%) |species == Fruitfly; gene == CG8172; score == 146; expect == 1.6e-35; MEOW:FBgn0033362 (32%) |species == Fruitfly; gene == CG13430; score == 143; expect == 1.3e-34; MEOW:FBgn0034518 (37%) |species == Fruitfly; gene == CG18065; score == 143; expect == 1.3e-34; MEOW:FBgn0034519 (37%) |species == Fruitfly; gene == CG6865; score == 138; expect == 3.5e-33; MEOW:FBgn0036817 (34%) } # EOR GENR { RETE|ID 1 HUgn0002159 CHR 1 13 DID 1 LocusLink:2159 MAP 1 13q34 NAM 1 coagulation factor X ORG 1 Homo sapiens SYM 1 F10 ID|HUgn0002159 DID|LocusLink:2159 ORG|Homo sapiens RSQ|REFSEQ:NM_000504 RPA|REFPROT:NP_000495 DBA|XM:NM_000504 |NA:AB005892 |NA:L00390 |NA:L29433 |NA:M33297 |NA:BC040125 |NA:BC046125 |NA:K01886 |NA:K03194 |NA:M22613 |NA:M57285 |NA:none PAC|XP:NP_000495 SYM|F10 NAM|coagulation factor X SYN|FX |FXA FNC|coagulation factor X precursor |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 REAB|This gene encodes the vitamin K-dependent coagulation factor X precursor of the blood |coagulation cascade. This factor precursor is converted to a mature two-chain form |by the excision of the tripeptide RKR. Two chains of the factor are held together |by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while |the heavy chain contains the catalytic domain which is structurally homologous to |those of the other hemostatic serine proteases. The mature factor is activated by |the cleavage of the activation peptide by factor IXa (in the intrisic pathway), |or by factor VIIa (in the extrinsic pathway). The activated factor then converts |prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during |blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic |condition of variable severity. CHR|13 PRD|factor Xa |prothrombinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=361463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2159[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119890 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000504 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000504 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=361463 DBL|UNIGENE:Hs.361463 |OMIM:227600 |SNP:2159 ENZ|EC:3.4.21.6 |trypsin activity ; GO:0004295 |blood coagulation factor X activity ; GO:0003804 |calcium ion binding ; GO:0005509 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|13q34 PHP|Factor X deficiency CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == F10; score == 752; expect == 0.0; MEOW:MGgn0004158 (76%) |species == rat; score == 745; expect == 0.0; MEOW:ref|NP_058839.1| (76%) |species == Human; gene == F9; score == 396; expect == 2e-110; MEOW:HUgn0002158 (44%) |species == chimp; score == 395; expect == 3e-110; MEOW:sp|Q95ND7|Q95ND7 (44%) |species == chimp; score == 382; expect == 3e-106; MEOW:sp|Q95ND6|Q95ND6 (43%) |species == Zfish; gene == f7; score == 351; expect == 3.9e-97; MEOW:ZFgn0002317 (42%) |species == Human; gene == F7; score == 344; expect == 9.5e-95; MEOW:HUgn0002155 (38%) |species == Zfish; gene == f7i; score == 313; expect == 1.2e-85; MEOW:ZFgn0009622 (38%) |species == Mosquito; gene == LOC17112; score == 178; expect == 4.7e-45; MEOW:AGgn0017112 (40%) |species == Mosquito; score == 174; expect == 3.8e-44; MEOW:AGgn0012201 (41%) |species == Mosquito; gene == LOC11601; score == 166; expect == 1.4e-41; MEOW:AGgn0011601 (37%) |species == Fruitfly; gene == CG18735; score == 150; expect == 9.0e-37; MEOW:FBgn0042098 (37%) |species == Mosquito; gene == LOC12218; score == 147; expect == 9.5e-36; MEOW:AGgn0012218 (36%) |species == Fruitfly; gene == CG4386; score == 147; expect == 7.6e-36; MEOW:FBgn0034661 (33%) |species == Fruitfly; gene == CG11836; score == 145; expect == 2.9e-35; MEOW:FBgn0039272 (38%) |species == Fruitfly; gene == Sb; score == 144; expect == 4.9e-35; MEOW:FBgn0003319 (35%) |species == Fruitfly; gene == CG4914; score == 144; expect == 6.4e-35; MEOW:FBgn0036436 (36%) |species == Fruitfly; gene == CG7432; score == 144; expect == 4.9e-35; MEOW:FBgn0038727 (32%) |species == Mosquito; gene == LOC12216; score == 143; expect == 1.1e-34; MEOW:AGgn0012216 (37%) |species == Fruitfly; gene == CG9372; score == 141; expect == 7.1e-34; MEOW:FBgn0036891 (33%) |species == Fruitfly; gene == CG10663; score == 138; expect == 4.6e-33; MEOW:FBgn0036287 (31%) |species == Fruitfly; gene == CG31728; score == 135; expect == 3.0e-32; MEOW:FBgn0051728 (31%) |species == Fruitfly; gene == CG9294; score == 134; expect == 6.4e-32; MEOW:FBgn0034666 (33%) |species == Fruitfly; gene == CG4613; score == 134; expect == 6.7e-32; MEOW:FBgn0036427 (36%) |species == Worm; gene == C07G1.1; score == 132; expect == 3.0e-31; MEOW:CEgn0004322 (36%) } # EOR GENR { RETE|ID 1 HUgn0002160 CHR 1 4 DID 1 LocusLink:2160 MAP 1 4q35 NAM 1 coagulation factor XI (plasma thromboplastin antecedent) ORG 1 Homo sapiens SYM 1 F11 ID|HUgn0002160 DID|LocusLink:2160 ORG|Homo sapiens RSQ|REFSEQ:NM_000128 |REFSEQ:NM_019559 RPA|REFPROT:NP_000119 |REFPROT:NP_062505 DBA|XM:NM_000128 |XM:NM_019559 |NA:AB004057 |NA:M18295 |NA:M20218 |NA:AF045649 |NA:BC034307 |NA:M13142 |NA:none PAC|XP:NP_000119 |XP:NP_062505 SYM|F11 NAM|coagulation factor XI (plasma thromboplastin antecedent) SYN|FXI FNC|plasma coagulation factor XI precursor isoform a |platelet coagulation factor XI isoform b |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 REAB|This gene encodes coagulation factor XI of the blood coagulation cascade. Alternative |splicing of the gene results in two transcripts. The full length transcript encodes |the circulating plasma factor XI and an alternate transcript lacking exon 5 encodes |the platelet factor XI. The plasma factor XI is present in plasma as a zymogen, |which is an unique plasma coagulation enzyme because it exists as a homodimer consisting |of two identical polypeptide chains linked by disulfide bonds. During activation |of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or |XII) in each of the two chains, resulting in activated factor XIa, a serine protease |composed of two heavy and two light chains held together by disulfide bonds. This |activated plasma factor XI triggers the middle phase of the intrisic pathway of |blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal |syndrome, a blood coagulation abnormality. The platelet factor XI is localized to |platelets and megakaryocytes but absent from other blood cells. The nature of this |platelet factor is not known, it may play an important role both in the maintenance |of normal hemostasis and as a substitute for plasma factor XI. CHR|4 PRD|plasma thromboplastin antecedent URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1430 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2160[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119891 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000128 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000128 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1430 |http://www.geneclinics.org/query?mim=264900 DBL|UNIGENE:Hs.1430 |OMIM:264900 |SNP:2160 |UWCM:119891.html ENZ|EC:3.4.21.27 |blood coagulation factor IX activity ; GO:0003803 |trypsin activity ; GO:0004295 |blood coagulation factor XI activity ; GO:0003805 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|4q35 PHP|Factor XI deficiency CEL|membrane ; GO:0016020 |extracellular ; GO:0005576 HG|species == Mouse; gene == F11; score == 1048; expect == 0.0; MEOW:MGgn0004159 (77%) |species == rat; score == 962; expect == 0.0; MEOW:ref|XP_224872.2| (70%) |species == Human; gene == KLKB1; score == 793; expect == 0.0; MEOW:HUgn0003818 (58%) |species == rat; score == 783; expect == 0.0; MEOW:ref|NP_036857.1| (58%) |species == Fruitfly; gene == Sb; score == 172; expect == 3.0e-43; MEOW:FBgn0003319 (38%) |species == Fruitfly; gene == CG31954; score == 172; expect == 3.0e-43; MEOW:FBgn0051954 (39%) |species == Fruitfly; gene == CG11824; score == 170; expect == 1.1e-42; MEOW:FBgn0033360 (37%) |species == Mosquito; gene == LOC4000; score == 169; expect == 1.6e-42; MEOW:AGgn0004000 (39%) |species == Mosquito; gene == LOC17112; score == 167; expect == 6.3e-42; MEOW:AGgn0017112 (39%) |species == Mosquito; gene == LOC18384; score == 167; expect == 1.2e-41; MEOW:AGgn0018384 (40%) |species == Mosquito; gene == LOC7690; score == 166; expect == 2.0e-41; MEOW:AGgn0007690 (37%) |species == Mosquito; score == 166; expect == 2.0e-41; MEOW:AGgn0018316 (38%) |species == Mosquito; gene == LOC22018; score == 166; expect == 2.7e-41; MEOW:AGgn0022018 (36%) |species == Mosquito; score == 166; expect == 1.6e-41; MEOW:AGgn0028900 (36%) |species == Fruitfly; gene == CG4386; score == 166; expect == 1.5e-41; MEOW:FBgn0034661 (37%) |species == Mosquito; score == 164; expect == 5.9e-41; MEOW:AGgn0012201 (38%) |species == Mosquito; score == 164; expect == 7.7e-41; MEOW:AGgn0026990 (39%) |species == Fruitfly; gene == CG2105; score == 164; expect == 6.2e-41; MEOW:FBgn0033192 (37%) |species == Fruitfly; gene == CG10663; score == 163; expect == 1.8e-40; MEOW:FBgn0036287 (36%) |species == Mosquito; score == 162; expect == 2.2e-40; MEOW:AGgn0018367 (38%) |species == Mosquito; gene == LOC12216; score == 160; expect == 7.8e-40; MEOW:AGgn0012216 (38%) |species == Mosquito; gene == LOC12218; score == 160; expect == 7.9e-40; MEOW:AGgn0012218 (39%) |species == Fruitfly; gene == CG4998; score == 159; expect == 2.0e-39; MEOW:FBgn0036612 (31%) |species == Fruitfly; gene == CG7432; score == 159; expect == 2.6e-39; MEOW:FBgn0038727 (36%) |species == Fruitfly; gene == CG18735; score == 158; expect == 5.8e-39; MEOW:FBgn0042098 (38%) |species == Mosquito; score == 157; expect == 6.7e-39; MEOW:AGgn0006368 (36%) |species == Worm; gene == C07G1.1; score == 157; expect == 1.5e-38; MEOW:CEgn0004322 (37%) |species == Fruitfly; gene == CG8172; score == 157; expect == 1.2e-38; MEOW:FBgn0033362 (34%) |species == Fruitfly; gene == CG8170; score == 157; expect == 1.7e-38; MEOW:FBgn0033365 (36%) |species == Mosquito; score == 155; expect == 1.8e-38; MEOW:AGgn0025294 (35%) |species == Zfish; gene == f7; score == 155; expect == 3.3e-39; MEOW:ZFgn0002317 (36%) |species == Mosquito; gene == LOC22345; score == 154; expect == 6.2e-38; MEOW:AGgn0022345 (39%) |species == chimp; score == 154; expect == 3.3e-39; MEOW:sp|Q95ND7|Q95ND7 (37%) |species == Fruitfly; gene == CG4613; score == 152; expect == 2.5e-37; MEOW:FBgn0036427 (36%) |species == Fruitfly; gene == &lgr;Try; score == 151; expect == 5.4e-37; MEOW:FBgn0043470 (36%) |species == Mosquito; gene == LOC16743; score == 149; expect == 3.7e-36; MEOW:AGgn0016743 (35%) |species == Mosquito; score == 148; expect == 2.0e-36; MEOW:AGgn0013290 (40%) |species == Mosquito; score == 148; expect == 2.8e-36; MEOW:AGgn0026788 (38%) |species == Fruitfly; gene == Tequila; score == 147; expect == 6.7e-36; MEOW:FBgn0023479 (37%) |species == Mosquito; gene == LOC16817; score == 146; expect == 3.8e-35; MEOW:AGgn0016817 (35%) |species == Mosquito; score == 146; expect == 1.6e-35; MEOW:AGgn0026121 (34%) |species == Fruitfly; gene == mas; score == 145; expect == 1.2e-34; MEOW:FBgn0011653 (34%) |species == Mosquito; gene == LOC15896; score == 144; expect == 5.6e-34; MEOW:AGgn0015896 (34%) |species == chimp; score == 144; expect == 2.6e-36; MEOW:sp|Q95ND6|Q95ND6 (36%) |species == Fruitfly; gene == CG6865; score == 143; expect == 1.1e-34; MEOW:FBgn0036817 (33%) |species == Mosquito; gene == LOC16874; score == 142; expect == 1.9e-34; MEOW:AGgn0016874 (40%) |species == Mosquito; score == 142; expect == 5.1e-34; MEOW:AGgn0020324 (35%) |species == Mosquito; gene == LOC21196; score == 141; expect == 3.9e-34; MEOW:AGgn0021196 (37%) |species == Mosquito; score == 139; expect == 1.9e-33; MEOW:AGgn0013584 (36%) |species == Mosquito; gene == LOC22520; score == 138; expect == 5.3e-33; MEOW:AGgn0022520 (33%) |species == Fruitfly; gene == &eegr;Try; score == 138; expect == 2.6e-33; MEOW:FBgn0011554 (36%) |species == Mosquito; gene == LOC23886; score == 137; expect == 7.0e-33; MEOW:AGgn0023886 (33%) } # EOR GENR { RETE|ID 1 HUgn0002161 CHR 1 5 DID 1 LocusLink:2161 MAP 1 5q33-qter NAM 1 coagulation factor XII (Hageman factor) ORG 1 Homo sapiens SYM 1 F12 ID|HUgn0002161 DID|LocusLink:2161 ORG|Homo sapiens RSQ|REFSEQ:NM_000505 RPA|REFPROT:NP_000496 DBA|XM:NM_000505 |NA:L43615 |NA:M17464 |NA:M17466 |NA:U71274 |NA:U71275 |NA:U71276 |NA:U71277 |NA:U71278 |NA:AB095845 |NA:BC012390 |NA:M11723 |NA:M13147 |NA:M31315 |NA:none PAC|XP:NP_000496 SYM|F12 NAM|coagulation factor XII (Hageman factor) SYN|HAF FNC|coagulation factor XII precursor |proteolysis and peptidolysis ; GO:0006508 |blood coagulation ; GO:0007596 |negative regulation of blood coagulation ; GO:0030195 REAB|This gene encodes coagulation factor XII which circulates in blood as a zymogen. |This single chain zymogen is converted to a two-chain serine protease with an heavy |chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type |domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a |proline-rich domain, whereas the light chain contains only a catalytic domain. On |activation, further cleavages takes place in the heavy chain, resulting in the production |of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor |XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which |then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. |The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, |and the generation of bradykinin and angiotensin. It activates coagulation factors |VII and XI. Defects in this gene do not cause any clinical symptoms and the sole |effect is that whole-blood clotting time is prolonged. CHR|5 PRD|Hageman factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1321 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2161[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119892 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000505 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000505 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1321 DBL|UNIGENE:Hs.1321 |OMIM:234000 |SNP:2161 ENZ|EC:3.4.21.38 |trypsin activity ; GO:0004295 |blood coagulation factor XI activity ; GO:0003805 |blood coagulation factor XII activity ; GO:0003806 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|5q33-qter PHP|Factor XII deficiency CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == F12; score == 907; expect == 0.0; MEOW:MGgn0014935 (69%) |species == rat; score == 832; expect == 0.0; MEOW:ref|XP_225172.2| (68%) |species == Human; gene == HGFAC; score == 449; expect == 2e-126; MEOW:HUgn0003083 (39%) |species == Fruitfly; gene == CG7432; score == 156; expect == 2.2e-38; MEOW:FBgn0038727 (38%) |species == Fruitfly; gene == CG2105; score == 155; expect == 4.8e-38; MEOW:FBgn0033192 (35%) |species == Fruitfly; gene == Tequila; score == 153; expect == 1.2e-37; MEOW:FBgn0023479 (35%) |species == Mosquito; gene == LOC10961; score == 150; expect == 1.5e-36; MEOW:AGgn0010961 (36%) |species == Fruitfly; gene == CG4613; score == 147; expect == 1.3e-35; MEOW:FBgn0036427 (38%) |species == Mosquito; gene == LOC11601; score == 146; expect == 2.8e-35; MEOW:AGgn0011601 (37%) |species == Mosquito; gene == LOC21796; score == 146; expect == 2.8e-35; MEOW:AGgn0021796 (36%) |species == Mosquito; score == 146; expect == 2.8e-35; MEOW:AGgn0025376 (36%) |species == Fruitfly; gene == CG8172; score == 145; expect == 5.0e-35; MEOW:FBgn0033362 (34%) |species == Mosquito; gene == LOC12218; score == 144; expect == 6.2e-35; MEOW:AGgn0012218 (36%) |species == Mosquito; gene == LOC4000; score == 142; expect == 2.4e-34; MEOW:AGgn0004000 (38%) |species == Mosquito; gene == LOC17112; score == 142; expect == 3.1e-34; MEOW:AGgn0017112 (33%) |species == Worm; gene == C07G1.1; score == 141; expect == 8.4e-34; MEOW:CEgn0004322 (34%) |species == Mosquito; gene == LOC15747; score == 140; expect == 1.2e-33; MEOW:AGgn0015747 (41%) |species == Fruitfly; gene == CG6048; score == 140; expect == 1.4e-33; MEOW:FBgn0029827 (39%) |species == Mosquito; gene == LOC14938; score == 139; expect == 2.0e-33; MEOW:AGgn0014938 (33%) |species == Mosquito; gene == LOC22345; score == 139; expect == 2.6e-33; MEOW:AGgn0022345 (35%) |species == Fruitfly; gene == Sb; score == 138; expect == 6.1e-33; MEOW:FBgn0003319 (35%) |species == Fruitfly; gene == CG9294; score == 137; expect == 1.0e-32; MEOW:FBgn0034666 (37%) |species == Fruitfly; gene == CG18735; score == 137; expect == 1.4e-32; MEOW:FBgn0042098 (35%) |species == Fruitfly; gene == CG11824; score == 134; expect == 6.8e-32; MEOW:FBgn0033360 (35%) |species == Fruitfly; gene == CG14780; score == 131; expect == 4.0e-31; MEOW:FBgn0025383 (40%) |species == chimp; score == 130; expect == 5.0e-32; MEOW:sp|Q95ND7|Q95ND7 (35%) |species == Zfish; gene == f7; score == 129; expect == 3.2e-31; MEOW:ZFgn0002317 (33%) } # EOR GENR { RETE|ID 1 HUgn0002162 CHR 1 6 DID 1 LocusLink:2162 MAP 1 6p25.3-p24.3 NAM 1 coagulation factor XIII, A1 polypeptide ORG 1 Homo sapiens SYM 1 F13A1 ID|HUgn0002162 DID|LocusLink:2162 ORG|Homo sapiens RSQ|REFSEQ:NM_000129 RPA|REFPROT:NP_000120 DBA|XM:NM_000129 |NA:AF218234 |NA:AL133326 |NA:M22001 |NA:AK130666 |NA:BC027963 |NA:M14354 |NA:M14539 |NA:none PAC|XP:NP_000120 SYM|F13A1 NAM|coagulation factor XIII, A1 polypeptide SYN|F13A FNC|coagulation factor XIII A1 subunit precursor |blood coagulation ; GO:0007596 |peptide cross-linking ; GO:0018149 REAB|This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII |is the last zymogen to become activated in the blood coagulation cascade. Plasma |factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A |subunits have catalytic function, and the B subunits do not have enzymatic activity |and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only |of 2 A subunits, which are identical to those of plasma origin. Upon activation |by the cleavage of the activation peptide by thrombin and in the presence of calcium |ion, the plasma factor XIII dissociates its B subunits and yields the same active |enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase |to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between |fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin |inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency |is classified into two categories: type I deficiency, characterized by the lack |of both the A and B subunits; and type II deficiency, characterized by the lack |of the A subunit alone. These defects can result in a lifelong bleeding tendency, |defective wound healing, and habitual abortion. CHR|6 PRD|TGase |Coagulation factor XIII, A polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80424 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2162[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120614 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000129 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000129 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80424 DBL|UNIGENE:Hs.80424 |OMIM:134570 |SNP:2162 |UWCM:120614.html ENZ|EC:2.3.2.13 |blood coagulation factor activity ; GO:0003801 |acyltransferase activity ; GO:0008415 |protein-glutamine gamma-glutamyltransferase activity ; GO:0003810 |calcium ion binding ; GO:0005509 |transferase activity ; GO:0016740 MAP|6p25.3-p24.3 PHP|Factor XIIIA deficiency CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == F13a; score == 1347; expect == 0.0; MEOW:MGgn0016549 (86%) |species == rat; score == 1310; expect == 0.0; MEOW:ref|NP_067730.1| (84%) |species == Human; gene == TGM1; score == 578; expect == 5e-165; MEOW:HUgn0007051 (43%) |species == Mosquito; gene == LOC15956; score == 427; expect == 6e-120; MEOW:AGgn0015956 (36%) |species == Mosquito; gene == LOC16504; score == 395; expect == 2e-110; MEOW:AGgn0016504 (33%) |species == Fruitfly; gene == CG7356; score == 388; expect == 4e-108; MEOW:FBgn0031975 (33%) } # EOR GENR { RETE|ID 1 HUgn0002163 DID 1 LocusLink:2163 NAM 1 coagulation factor XIII, A2 polypeptide ORG 1 Homo sapiens SYM 1 F13A2 ID|HUgn0002163 DID|LocusLink:2163 ORG|Homo sapiens SYM|F13A2 NAM|coagulation factor XIII, A2 polypeptide URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118793 } # EOR GENR { RETE|ID 1 HUgn0002164 DID 1 LocusLink:2164 NAM 1 coagulation factor XIII, A3 polypeptide ORG 1 Homo sapiens SYM 1 F13A3 ID|HUgn0002164 DID|LocusLink:2164 ORG|Homo sapiens SYM|F13A3 NAM|coagulation factor XIII, A3 polypeptide URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118794 } # EOR GENR { RETE|ID 1 HUgn0002165 CHR 1 1 DID 1 LocusLink:2165 MAP 1 1q31-q32.1 NAM 1 coagulation factor XIII, B polypeptide ORG 1 Homo sapiens SYM 1 F13B ID|HUgn0002165 DID|LocusLink:2165 ORG|Homo sapiens RSQ|REFSEQ:NM_001994 RPA|REFPROT:NP_001985 DBA|XM:NM_001994 |NA:M64554 |NA:M14057 |NA:X51823 |NA:none PAC|XP:NP_001985 SYM|F13B NAM|coagulation factor XIII, B polypeptide SYN|FXIIIB FNC|coagulation factor XIII B subunit precursor |blood coagulation ; GO:0007596 REAB|This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the |last zymogen to become activated in the blood coagulation cascade. Plasma factor |XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits |have catalytic function, and the B subunits do not have enzymatic activity and may |serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 |A subunits, which are identical to those of plasma origin. Upon activation by the |cleavage of the activation peptide by thrombin and in the presence of calcium ion, |the plasma factor XIII dissociates its B subunits and yields the same active enzyme, |factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to |catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin |molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified |into two categories: type I deficiency, characterized by the lack of both the A |and B subunits; and type II deficiency, characterized by the lack of the A subunit |alone. These defects can result in a lifelong bleeding tendency, defective wound |healing, and habitual abortion. CHR|1 PRD|TGase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435782 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2165[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119893 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001994 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001994 DBL|UNIGENE:Hs.435782 |OMIM:134580 |SNP:2165 |UWCM:119893.html ENZ|EC:2.3.2.13 |blood coagulation factor activity ; GO:0003801 MAP|1q31-q32.1 PHP|Factor XIIIB deficiency HG|species == Mouse; gene == F13b; score == 1139; expect == 0.0; MEOW:MGgn0004160 (77%) |species == rat; score == 1093; expect == 0.0; MEOW:ref|XP_222693.2| (75%) |species == Human; gene == FHR5; score == 275; expect == 3.8e-74; MEOW:HUgn0081494 (31%) |species == Human; gene == HF1; score == 260; expect == 2.0e-69; MEOW:HUgn0003075 (26%) |species == chimp; score == 128; expect == 2.1e-31; MEOW:sp|Q29531|Q29531 (29%) |species == chimp; score == 127; expect == 3.6e-31; MEOW:sp|Q29530|Q29530 (29%) } # EOR GENR { RETE|ID 1 HUgn0002166 CHR 1 1 DID 1 LocusLink:2166 MAP 1 1p35-p34 NAM 1 fatty acid amide hydrolase ORG 1 Homo sapiens SYM 1 FAAH ID|HUgn0002166 DID|LocusLink:2166 ORG|Homo sapiens RSQ|REFSEQ:NM_001441 RPA|REFPROT:NP_001432 DBA|XM:NM_001441 |NA:AF098019 |NA:AK057420 |NA:AL050372 |NA:BC014441 |NA:BC016907 |NA:BC034478 |NA:U82535 PAC|XP:NP_001432 SYM|FAAH NAM|fatty acid amide hydrolase FNC|fatty acid amide hydrolase |fatty acid metabolism ; GO:0006631 REAB|FAAH encodes the integral membrane enzyme fatty acid amide hydrolase. FAAH is responsible |for the hydrolysis of a number of primary and secondary fatty acid amides, including |the neuromodulatory compounds anandamide and oleamide. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439794 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2166[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9032975 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001441 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001441 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439794 DBL|UNIGENE:Hs.439794 |OMIM:602935 |SNP:2166 MAP|1p35-p34 PHP|Drug addiction, susceptibility to ENZ|amidase activity ; GO:0004040 |receptor binding ; GO:0005102 CEL|insoluble fraction ; GO:0005626 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Faah; score == 870; expect == 0.0; MEOW:MGgn0004173 (84%) |species == rat; score == 856; expect == 0.0; MEOW:ref|NP_077046.1| (82%) |species == Worm; gene == B0218.1a; score == 313; expect == 2.2e-85; MEOW:CEgn0031557 (38%) |species == Worm; gene == F58H7.2; score == 291; expect == 8.8e-79; MEOW:CEgn0012425 (35%) |species == Worm; gene == B0218.2; score == 278; expect == 4.1e-75; MEOW:CEgn0003236 (38%) } # EOR GENR { RETE|ID 1 HUgn0002167 CHR 1 8 DID 1 LocusLink:2167 MAP 1 8q21 NAM 1 fatty acid binding protein 4, adipocyte ORG 1 Homo sapiens SYM 1 FABP4 ID|HUgn0002167 DID|LocusLink:2167 ORG|Homo sapiens RSQ|REFSEQ:NM_001442 RPA|REFPROT:NP_001433 DBA|XM:NM_001442 |NA:BC003672 |NA:J02874 |NA:none PAC|XP:NP_001433 SYM|FABP4 NAM|fatty acid binding protein 4, adipocyte SYN|A-FABP FNC|fatty acid binding protein 4, adipocyte |transport ; GO:0006810 REAB|FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding |proteins are a family of small, highly conserved, cytoplasmic proteins that bind |long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles |include fatty acid uptake, transport, and metabolism. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=391561 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2167[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128030 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001442 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001442 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=391561 DBL|UNIGENE:Hs.391561 |OMIM:600434 |SNP:2167 MAP|8q21 ENZ|transporter activity ; GO:0005215 |fatty acid binding ; GO:0005504 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Fabp4; score == 245; expect == 3.8e-66; MEOW:MGgn0000420 (91%) |species == rat; score == 241; expect == 7.9e-65; MEOW:ref|XP_346620.1| (89%) |species == Human; gene == PMP2; score == 183; expect == 3.3e-47; MEOW:HUgn0005375 (67%) |species == Human; gene == FABP3; score == 177; expect == 1.4e-45; MEOW:HUgn0002170 (64%) |species == Zfish; gene == fabp3; score == 172; expect == 2.4e-45; MEOW:ZFgn0002456 (62%) |species == Human; gene == FABP7; score == 158; expect == 8.8e-40; MEOW:HUgn0002173 (56%) } # EOR GENR { RETE|ID 1 HUgn0002168 CHR 1 2 DID 1 LocusLink:2168 MAP 1 2p11 NAM 1 fatty acid binding protein 1, liver ORG 1 Homo sapiens SYM 1 FABP1 ID|HUgn0002168 DID|LocusLink:2168 ORG|Homo sapiens RSQ|REFSEQ:NM_001443 RPA|REFPROT:NP_001434 DBA|XM:NM_001443 |NA:BC022287 |NA:BC032801 |NA:M10050 |NA:M10617 |NA:none PAC|XP:NP_001434 SYM|FABP1 NAM|fatty acid binding protein 1, liver SYN|FABPL |L-FABP FNC|fatty acid binding protein 1, liver |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 |histogenesis and organogenesis ; GO:0007397 |cell-cell signaling ; GO:0007267 REAB|FABP1 encodes the fatty acid binding protein found in liver. Fatty acid binding |proteins are a family of small, highly conserved, cytoplasmic proteins that bind |long-chain fatty acids and other hydrophobic ligands. FABP1 and FABP6 (the ileal |fatty acid binding protein) are also able to bind bile acids. It is thought that |FABPs roles include fatty acid uptake, transport, and metabolism. CHR|2 PRD|Fatty acid-binding protein, liver URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=380135 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2168[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119126 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001443 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001443 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=380135 DBL|UNIGENE:Hs.380135 |OMIM:134650 |SNP:2168 MAP|2p11 ENZ|lipid binding ; GO:0008289 |lipid transporter activity ; GO:0005319 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Fabp1; score == 215; expect == 2.9e-57; MEOW:MGgn0004180 (84%) |species == rat; score == 212; expect == 3.6e-56; MEOW:ref|NP_036688.1| (82%) } # EOR GENR { RETE|ID 1 HUgn0002169 CHR 1 4 DID 1 LocusLink:2169 MAP 1 4q28-q31 NAM 1 fatty acid binding protein 2, intestinal ORG 1 Homo sapiens SYM 1 FABP2 ID|HUgn0002169 DID|LocusLink:2169 ORG|Homo sapiens RSQ|REFSEQ:NM_000134 RPA|REFPROT:NP_000125 DBA|XM:NM_000134 |NA:M18079 |NA:AK025079 |NA:none PAC|XP:NP_000125 SYM|FABP2 NAM|fatty acid binding protein 2, intestinal SYN|FABPI, I-FABP FNC|intestinal fatty acid binding protein 2 |transport ; GO:0006810 |fatty acid metabolism ; GO:0006631 |digestion ; GO:0007586 REAB|The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family |with nearly twenty identified members. FABPs are divided into at least three distinct |types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins |and are thought to participate in the uptake, intracellular metabolism and/or transport |of long-chain fatty acids. They may also be responsible in the modulation of cell |growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains |four exons and is an abundant cytosolic protein in small intestine epithelial cells. |This gene has a polymorphism at codon 54 that identified an alanine-encoding allele |and a threonine-encoding allele. Thr-54 protein is associated with increased fat |oxidation and insulin resistance. CHR|4 PRD|I-FABP |Fatty acid-binding protein, intestinal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282265 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2169[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119127 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000134 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000134 DBL|UNIGENE:Hs.282265 |OMIM:134640 |SNP:2169 |UWCM:119127.html MAP|4q28-q31 ENZ|lipid transporter activity ; GO:0005319 |fatty acid binding ; GO:0005504 HG|species == rat; score == 227; expect == 1.2e-60; MEOW:ref|NP_037200.1| (81%) |species == Mouse; gene == Fabp2; score == 219; expect == 1.7e-58; MEOW:MGgn0004179 (78%) |species == Zfish; gene == fabp2; score == 186; expect == 2.8e-49; MEOW:ZFgn0000608 (67%) } # EOR GENR { RETE|ID 1 HUgn0002170 CHR 1 1 DID 1 LocusLink:2170 MAP 1 1p33-p32 NAM 1 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) ORG 1 Homo sapiens SYM 1 FABP3 ID|HUgn0002170 DID|LocusLink:2170 ORG|Homo sapiens RSQ|REFSEQ:NM_004102 RPA|REFPROT:NP_004093 DBA|XM:NM_004102 |NA:U17081 |NA:U57623 |NA:BC007021 |NA:S67314 |NA:X56549 |NA:Y10255 |NA:none PAC|XP:NP_004093 SYM|FABP3 NAM|fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) SYN|MDGI |FABP11 |O-FABP FNC|fatty acid binding protein 3 |negative regulation of cell proliferation ; GO:0008285 |transport ; GO:0006810 |lipid binding ; GO:0006630 REAB|The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. |FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- |and cardiac-type. They form 14-15 kDa proteins and are thought to participate in |the uptake, intracellular metabolism and/or transport of long-chain fatty acids. |They may also be responsible in the modulation of cell growth and proliferation. |Fatty acid-binding protein 3 gene contains four exons and its function is to arrest |growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene |for human breast cancer. CHR|1 PRD|H-FABP |fatty acid binding protein 11 |mammary-derived growth inhibitor |Fatty acid-binding protein 3, muscle URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112669 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2170[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128008 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004102 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004102 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=112669 DBL|UNIGENE:Hs.112669 |OMIM:134651 |SNP:2170 MAP|1p33-p32 ENZ|lipid transporter activity ; GO:0005319 |fatty acid binding ; GO:0005504 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 245; expect == 5.6e-66; MEOW:ref|NP_077076.1| (89%) |species == Mouse; gene == Fabp3; score == 240; expect == 1.2e-64; MEOW:MGgn0004177 (85%) |species == Zfish; gene == fabp3; score == 202; expect == 3.8e-54; MEOW:ZFgn0002456 (74%) |species == Human; gene == FABP7; score == 188; expect == 1.0e-48; MEOW:HUgn0002173 (67%) |species == Human; gene == FABP4; score == 177; expect == 1.4e-45; MEOW:HUgn0002167 (64%) |species == Human; gene == PMP2; score == 176; expect == 4.1e-45; MEOW:HUgn0005375 (63%) |species == Fruitfly; gene == BcDNA:SD12036; score == 129; expect == 2.8e-31; MEOW:FBgn0064779 (54%) } # EOR GENR { RETE|ID 1 HUgn0002171 CHR 1 8 DID 1 LocusLink:2171 MAP 1 8q21.13 NAM 1 fatty acid binding protein 5 (psoriasis-associated) ORG 1 Homo sapiens SYM 1 FABP5 ID|HUgn0002171 DID|LocusLink:2171 ORG|Homo sapiens RSQ|REFSEQ:NM_001444 RPA|REFPROT:NP_001435 DBA|XM:NM_001444 |NA:BC019385 |NA:M94856 |NA:none PAC|XP:NP_001435 SYM|FABP5 NAM|fatty acid binding protein 5 (psoriasis-associated) SYN|EFABP |E-FABP |PAFABP |PA-FABP FNC|fatty acid binding protein 5 (psoriasis-associated) |epidermal differentiation ; GO:0008544 |transport ; GO:0006810 |lipid metabolism ; GO:0006629 REAB|This gene encodes the fatty acid binding protein found in epidermal cells, and was |first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins |are a family of small, highly conserved, cytoplasmic proteins that bind long-chain |fatty acids and other hydrophobic ligands. It is thought that FABPs roles include |fatty acid uptake, transport, and metabolism. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408061 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2171[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136450 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001444 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001444 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408061 DBL|UNIGENE:Hs.408061 |OMIM:605168 |SNP:2171 MAP|8q21.13 ENZ|transporter activity ; GO:0005215 |fatty acid binding ; GO:0005504 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Fabp5; score == 240; expect == 1.3e-64; MEOW:MGgn0006776 (80%) |species == Human; gene == LOC344332; score == 214; expect == 1.1e-56; MEOW:HUgn0344332 (91%) |species == rat; score == 194; expect == 1.2e-50; MEOW:ref|XP_231258.2| (69%) |species == Human; gene == LOC220832; score == 190; expect == 1.2e-49; MEOW:HUgn0220832 (91%) |species == Human; gene == LOC378208; score == 190; expect == 1.2e-49; MEOW:HUgn0378208 (91%) |species == rat; score == 156; expect == 4.4e-39; MEOW:ref|XP_342215.1| (58%) } # EOR GENR { RETE|ID 1 HUgn0002172 CHR 1 5 DID 1 LocusLink:2172 MAP 1 5q23-q35 NAM 1 fatty acid binding protein 6, ileal (gastrotropin) ORG 1 Homo sapiens SYM 1 FABP6 ID|HUgn0002172 DID|LocusLink:2172 ORG|Homo sapiens RSQ|REFSEQ:NM_001445 RPA|REFPROT:NP_001436 DBA|XM:NM_001445 |NA:BC022489 |NA:U19869 |NA:X90908 |NA:none PAC|XP:NP_001436 SYM|FABP6 NAM|fatty acid binding protein 6, ileal (gastrotropin) SYN|ILBP |I-15P |ILBP3 |ILLBP |I-BABP FNC|gastrotropin |negative regulation of cell proliferation ; GO:0008285 |transport ; GO:0006810 |lipid metabolism ; GO:0006629 |lipid binding ; GO:0006630 REAB|FABP6 encodes the ileal fatty acid binding protein. Fatty acid binding proteins are |a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty |acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding |protein) are also able to bind bile acids. It is thought that FABPs roles include |fatty acid uptake, transport, and metabolism. CHR|5 PRD|I-BAP |illeal lipid-binding protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147391 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2172[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:456104 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001445 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001445 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=147391 DBL|UNIGENE:Hs.147391 |OMIM:600422 |SNP:2172 MAP|5q23-q35 ENZ|transporter activity ; GO:0005215 |fatty acid binding ; GO:0005504 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Fabp6; score == 216; expect == 1.3e-57; MEOW:MGgn0006373 (79%) |species == rat; score == 214; expect == 9.5e-57; MEOW:ref|NP_058794.1| (78%) } # EOR GENR { RETE|ID 1 HUgn0002173 CHR 1 6 DID 1 LocusLink:2173 MAP 1 6q22-q23 NAM 1 fatty acid binding protein 7, brain ORG 1 Homo sapiens SYM 1 FABP7 ID|HUgn0002173 DID|LocusLink:2173 ORG|Homo sapiens RSQ|REFSEQ:NM_001446 RPA|REFPROT:NP_001437 DBA|XM:NM_001446 |NA:AI879148 |NA:AJ002962 |NA:AK091664 |NA:AL512688 |NA:AW156936 |NA:BC012299 |NA:BI860090 |NA:D50373 |NA:D88648 |NA:U51338 |NA:U81235 PAC|XP:NP_001437 SYM|FABP7 NAM|fatty acid binding protein 7, brain SYN|FABPB |B-FABP FNC|fatty acid binding protein 7, brain |negative regulation of cell proliferation ; GO:0008285 |fatty acid metabolism ; GO:0006631 |neurogenesis ; GO:0007399 REAB|The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid |binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins |that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought |to play roles in fatty acid uptake, transport, and metabolism. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26770 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2173[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9798392 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001446 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001446 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=26770 DBL|UNIGENE:Hs.26770 |OMIM:602965 |SNP:2173 MAP|6q22-q23 ENZ|intracellular transporter activity ; GO:0005478 |lipid binding ; GO:0008289 HG|species == rat; score == 241; expect == 1.0e-64; MEOW:ref|NP_110459.1| (88%) |species == Mouse; gene == Fabp7; score == 238; expect == 4.7e-64; MEOW:MGgn0000813 (87%) |species == Zfish; gene == fabp3; score == 193; expect == 2.3e-51; MEOW:ZFgn0002456 (65%) |species == Human; gene == FABP3; score == 188; expect == 1.0e-48; MEOW:HUgn0002170 (67%) |species == Zfish; gene == fabp7; score == 185; expect == 2.8e-48; MEOW:ZFgn0000963 (82%) |species == Human; gene == PMP2; score == 160; expect == 1.8e-40; MEOW:HUgn0005375 (59%) |species == Human; gene == FABP4; score == 158; expect == 8.8e-40; MEOW:HUgn0002167 (56%) |species == Fruitfly; gene == BcDNA:SD12036; score == 129; expect == 2.1e-31; MEOW:FBgn0064779 (54%) } # EOR GENR { RETE|ID 1 HUgn0002174 DID 1 LocusLink:2174 NAM 1 fatty acid binding protein 9, testis ORG 1 Homo sapiens SYM 1 FABP9 ID|HUgn0002174 DID|LocusLink:2174 ORG|Homo sapiens SYM|FABP9 NAM|fatty acid binding protein 9, testis SYN|PERF PRD|T-FABP URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9798393 } # EOR GENR { RETE|ID 1 HUgn0002175 CHR 1 16 DID 1 LocusLink:2175 MAP 1 16q24.3 NAM 1 Fanconi anemia, complementation group A ORG 1 Homo sapiens SYM 1 FANCA ID|HUgn0002175 DID|LocusLink:2175 ORG|Homo sapiens RSQ|REFSEQ:NM_000135 RPA|REFPROT:NP_000126 DBA|XM:NM_000135 |NA:AJ131189 |NA:AJ131190 |NA:Z83067 |NA:BC008979 |NA:BC022498 |NA:X99226 |NA:none PAC|XP:NP_000126 SYM|FANCA NAM|Fanconi anemia, complementation group A SYN|FA |FA1 |FAA |FAH |FA-H |FACA |FANCH FNC|Fanconi anemia, complementation group A |DNA repair ; GO:0006281 |protein complex assembly ; GO:0006461 REAB|Type 1 Fanconi pancytopenia is an autosomal recessive disorder affecting all bone |marrow elements and associated with cardiac, renal, and limb malformations as well |as dermal pigmentary changes. There are at least 8 complementation groups in Fanconi |anemia: FANCA, FANCB (MIM 227660), FANCC (MIM 227645), FANCD1 (MIM 605724), FANCD2 |(MIM 227646), FANCE (MIM 600901), FANCF (MIM 603467), FANCG (MIM 602956). The previously |designated FANCH complementation group (Joenje et al., 1997 [PubMed 9382107]) was |found by Joenje et al. (2000) [PubMed 10936108] to be the same as FANCA. Exclusion |from group A was apparently based on phenotypic reversion to wildtype rather than |on genuine complementation in fusion hybrids. They suggested that to avoid the pitfall |of reversion, future assignments of patients with FA to new complementation groups |should conform with more stringent criteria. A new group should be based on at least |2 patients with FA whose cell lines are excluded from all known groups and fail |to complement each other in fusion hybrids, or, if only one such cell line were |available, on a new complementing gene that carries pathogenic mutations in this |cell line.[supplied by OMIM] CHR|16 PRD|Fanconi anemia, complementation group H URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284153 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2175[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:701221 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000135 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000135 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=284153 |http://www.geneclinics.org/query?mim=227650 |http://www.rockefeller.edu/fanconi/mutate/ DBL|UNIGENE:Hs.284153 |OMIM:607139 |SNP:2175 MAP|16q24.3 PHP|Fanconi anemia, complementation group A CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Fanca; score == 1786; expect == 0.0; MEOW:MGgn0004188 (66%) |species == rat; score == 948; expect == 0.0; MEOW:ref|XP_341714.1| (62%) } # EOR GENR { RETE|ID 1 HUgn0002176 CHR 1 9 DID 1 LocusLink:2176 MAP 1 9q22.3 NAM 1 Fanconi anemia, complementation group C ORG 1 Homo sapiens SYM 1 FANCC ID|HUgn0002176 DID|LocusLink:2176 ORG|Homo sapiens RSQ|REFSEQ:NM_000136 RPA|REFPROT:NP_000127 DBA|XM:NM_000136 |NA:L02664 |NA:BC006303 |NA:BC015748 |NA:BC034271 |NA:BC041030 |NA:X66893 |NA:X66894 |NA:none PAC|XP:NP_000127 SYM|FANCC NAM|Fanconi anemia, complementation group C SYN|FA3 |FAC |FACC FNC|Fanconi anemia, complementation group C |DNA repair ; GO:0006281 |protein complex assembly ; GO:0006461 REAB|The function of FANCC is unknown but defects in this gene have been associated with Fanconi anemia. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=253236 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2176[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000136 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000136 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=253236 |http://www.geneclinics.org/query?mim=227645 |http://www.rockefeller.edu/fanconi/mutate/ DBL|UNIGENE:Hs.253236 |OMIM:227645 |SNP:2176 MAP|9q22.3 PHP|Fanconi anemia, complementation group C CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 718; expect == 0.0; MEOW:ref|NP_036689.1| (65%) |species == Mouse; gene == Fancc; score == 688; expect == 0.0; MEOW:MGgn0004189 (62%) } # EOR GENR { RETE|ID 1 HUgn0002177 CHR 1 3 DID 1 LocusLink:2177 MAP 1 3p26 NAM 1 Fanconi anemia, complementation group D2 ORG 1 Homo sapiens SYM 1 FANCD2 ID|HUgn0002177 DID|LocusLink:2177 ORG|Homo sapiens RSQ|REFSEQ:NM_033084 RPA|REFPROT:NP_149075 DBA|XM:NM_033084 |NA:AF273251 |NA:AF230336 |NA:AF340183 |NA:AK022613 |NA:BC038666 PAC|XP:NP_149075 SYM|FANCD2 NAM|Fanconi anemia, complementation group D2 SYN|FA4 |FAD |FACD |FAD2 |FA-D2 |FANCD FNC|Fanconi anemia, complementation group D2 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=208388 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2177[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:698345 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033084 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033084 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=208388 |http://www.geneclinics.org/query?mim=227646 DBL|UNIGENE:Hs.208388 |OMIM:227646 |SNP:2177 MAP|3p26 PHP|Fanconi anemia, complementation group D2 HG|species == rat; score == 1959; expect == 0.0; MEOW:ref|XP_232273.2| (72%) |species == Human; gene == LOC285373; score == 704; expect == 0.0; MEOW:HUgn0285373 (86%) |species == rice; score == 355; expect == 3.1e-97; MEOW:gnl|TIGR|8355.m00496 (24%) |species == Mosquito; gene == LOC8849; score == 264; expect == 1.8e-70; MEOW:AGgn0008849 (23%) |species == Fruitfly; gene == Fancd2; score == 242; expect == 7.8e-64; MEOW:FBgn0038827 (23%) |species == Mouse; gene == 2410150O07Rik; score == 188; expect == 1.5e-47; MEOW:MGgn0020500 (73%) |species == Weed; gene == At4g14970; score == 178; expect == 2.1e-44; MEOW:ATgn0019567 (27%) } # EOR GENR { RETE|ID 1 HUgn0002178 CHR 1 6 DID 1 LocusLink:2178 MAP 1 6p21-p22 NAM 1 Fanconi anemia, complementation group E ORG 1 Homo sapiens SYM 1 FANCE ID|HUgn0002178 DID|LocusLink:2178 ORG|Homo sapiens RSQ|REFSEQ:NM_021922 RPA|REFPROT:NP_068741 DBA|XM:NM_021922 |NA:AF265210 |NA:BC046359 PAC|XP:NP_068741 SYM|FANCE NAM|Fanconi anemia, complementation group E SYN|FAE |FACE FNC|Fanconi anemia, complementation group E CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=302003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2178[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220236 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021922 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021922 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=302003 |http://www.geneclinics.org/query?mim=600901 DBL|UNIGENE:Hs.302003 |OMIM:600901 |SNP:2178 MAP|6p21-p22 PHP|Fanconi anemia, complementation group E ENZ|molecular_function unknown ; GO:0005554 CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 HG|species == rat; score == 211; expect == 1.1e-54; MEOW:ref|XP_228032.2| (48%) |species == Mouse; gene == 2810451D06Rik; score == 161; expect == 2.4e-40; MEOW:MGgn0021928 (55%) } # EOR GENR { RETE|ID 1 HUgn0002179 CHR 1 3 DID 1 LocusLink:2179 MAP 1 3q13 NAM 1 fatty-acid-Coenzyme A ligase, long-chain 1 ORG 1 Homo sapiens SYM 1 FACL1 ID|HUgn0002179 DID|LocusLink:2179 ORG|Homo sapiens RSQ|REFSEQ:NM_001995 RPA|REFPROT:NP_001986 DBA|XM:NM_001995 |NA:BC033479 |NA:BC050073 |NA:L09229 |NA:none PAC|XP:NP_001986 SYM|FACL1 NAM|fatty-acid-Coenzyme A ligase, long-chain 1 SYN|ACS1 |LACS |LACS1 FNC|long-chain fatty-acid-coenzyme A ligase 1 |fatty acid metabolism ; GO:0006631 |metabolism ; GO:0008152 REAB|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme |A ligase family. Although differing in substrate specificity, subcellular localization, |and tissue distribution, all isozymes of this family convert free long-chain fatty |acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis |and fatty acid degradation. This isozyme is mainly present in brain, and its amino |acid sequence is 85% identical to that of rat homolog. CHR|3 PRD|lignoceroyl-CoA synthase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511920 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135721 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001995 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001995 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511920 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=2179 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.511920 |OMIM:152425 |SNP:2179 ENZ|EC:6.2.1.3 |long-chain-fatty-acid-CoA ligase activity ; GO:0004467 |magnesium ion binding ; GO:0000287 |ligase activity ; GO:0016874 MAP|3q13 HG|species == Human; gene == FACL2; score == 1333; expect == 0.0; MEOW:HUgn0002180 (96%) |species == rat; score == 1184; expect == 0.0; MEOW:ref|NP_036952.1| (83%) |species == Mouse; gene == Facl2; score == 1179; expect == 0.0; MEOW:MGgn0004181 (82%) |species == Mosquito; gene == LOC12026; score == 658; expect == 0.0; MEOW:AGgn0012026 (53%) |species == Worm; gene == Y65B4BL.5; score == 622; expect == 2e-178; MEOW:CEgn0022464 (50%) |species == Fruitfly; gene == CG3961; score == 591; expect == 3e-169; MEOW:FBgn0036821 (51%) |species == Worm; gene == Y76A2B.3; score == 557; expect == 6e-159; MEOW:CEgn0019992 (46%) |species == Weed; gene == At5g27600; score == 488; expect == 6e-138; MEOW:ATgn0025630 (41%) |species == rice; score == 476; expect == 2e-134; MEOW:gnl|TIGR|8359.m00398 (42%) |species == rice; score == 471; expect == 8e-133; MEOW:gnl|TIGR|8358.m00401 (42%) |species == Weed; gene == At3g05970; score == 465; expect == 3e-131; MEOW:ATgn0016083 (41%) |species == Weed; gene == At4g23850; score == 419; expect == 2e-117; MEOW:ATgn0018860 (37%) |species == Weed; gene == At4g11030; score == 402; expect == 4e-112; MEOW:ATgn0018234 (36%) |species == Weed; gene == At1g64400; score == 396; expect == 3e-110; MEOW:ATgn0001625 (36%) |species == rice; score == 394; expect == 9e-110; MEOW:gnl|TIGR|8350.m04291 (37%) |species == Weed; gene == At1g49430; score == 391; expect == 1e-108; MEOW:ATgn0000894 (36%) |species == Yeast; gene == FAA2; score == 311; expect == 8.6e-85; MEOW:SGgn0000817 (34%) |species == Yeast; gene == FAA1; score == 258; expect == 8.0e-69; MEOW:SGgn0005844 (29%) |species == ecoli; score == 133; expect == 3.0e-31; MEOW:ref|NP_416319.1| (27%) } # EOR GENR { RETE|ID 1 HUgn0002180 CHR 1 4 DID 1 LocusLink:2180 MAP 1 4q34-q35 NAM 1 fatty-acid-Coenzyme A ligase, long-chain 2 ORG 1 Homo sapiens SYM 1 FACL2 ID|HUgn0002180 DID|LocusLink:2180 ORG|Homo sapiens RSQ|REFSEQ:NM_021122 RPA|REFPROT:NP_066945 DBA|XM:NM_021122 |NA:AK096117 |NA:BC026290 |NA:D10040 |NA:none PAC|XP:NP_066945 SYM|FACL2 NAM|fatty-acid-Coenzyme A ligase, long-chain 2 SYN|LACS |FACL1 |LACS2 FNC|long-chain fatty-acid-Coenzyme A ligase 2 REAB|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme |A ligase family. Although differing in substrate specificity, subcellular localization, |and tissue distribution, all isozymes of this family convert free long-chain fatty |acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis |and fatty acid degradation. This isozyme is mainly present in brain, and its amino |acid sequence is 85% identical to that of rat homolog. CHR|4 PRD|long-chain acyl-CoA synthetase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511920 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2180[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127357 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021122 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021122 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511920 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.511920 |OMIM:152426 |SNP:2180 ENZ|EC:6.2.1.3 MAP|4q34-q35 HG|species == Human; gene == FACL1; score == 1333; expect == 0.0; MEOW:HUgn0002179 (96%) |species == rat; score == 1234; expect == 0.0; MEOW:ref|NP_036952.1| (85%) |species == Mouse; gene == Facl2; score == 1229; expect == 0.0; MEOW:MGgn0004181 (84%) |species == Mosquito; gene == LOC12026; score == 679; expect == 0.0; MEOW:AGgn0012026 (51%) |species == Worm; gene == Y65B4BL.5; score == 637; expect == 0.0; MEOW:CEgn0022464 (49%) |species == Fruitfly; gene == CG3961; score == 603; expect == 1e-172; MEOW:FBgn0036821 (52%) |species == Worm; gene == Y76A2B.3; score == 558; expect == 4e-159; MEOW:CEgn0019992 (46%) |species == Weed; gene == At5g27600; score == 497; expect == 8e-141; MEOW:ATgn0025630 (42%) |species == rice; score == 488; expect == 4e-138; MEOW:gnl|TIGR|8359.m00398 (42%) |species == rice; score == 483; expect == 2e-136; MEOW:gnl|TIGR|8358.m00401 (43%) |species == Weed; gene == At3g05970; score == 478; expect == 4e-135; MEOW:ATgn0016083 (42%) |species == Weed; gene == At4g23850; score == 428; expect == 4e-120; MEOW:ATgn0018860 (37%) |species == Weed; gene == At4g11030; score == 409; expect == 3e-114; MEOW:ATgn0018234 (36%) |species == Weed; gene == At1g49430; score == 400; expect == 2e-111; MEOW:ATgn0000894 (36%) |species == Weed; gene == At1g64400; score == 399; expect == 4e-111; MEOW:ATgn0001625 (36%) |species == rice; score == 399; expect == 4e-111; MEOW:gnl|TIGR|8350.m04291 (37%) |species == Yeast; gene == FAA2; score == 314; expect == 1.3e-85; MEOW:SGgn0000817 (34%) |species == Yeast; gene == FAA1; score == 269; expect == 4.6e-72; MEOW:SGgn0005844 (29%) |species == ecoli; score == 139; expect == 3.2e-33; MEOW:ref|NP_416319.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0002181 CHR 1 2 DID 1 LocusLink:2181 MAP 1 2q34-q35 NAM 1 fatty-acid-Coenzyme A ligase, long-chain 3 ORG 1 Homo sapiens SYM 1 FACL3 ID|HUgn0002181 DID|LocusLink:2181 ORG|Homo sapiens RSQ|REFSEQ:NM_004457 RPA|REFPROT:NP_004448 DBA|XM:NM_004457 |NA:AB061712 |NA:AF116690 |NA:AK001471 |NA:AK023191 |NA:BC012066 |NA:BC032144 |NA:BC041692 |NA:D89053 PAC|XP:NP_004448 SYM|FACL3 NAM|fatty-acid-Coenzyme A ligase, long-chain 3 SYN|ACS3 |PRO2194 FNC|long-chain fatty-acid-Coenzyme A ligase 3 REAB|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme |A ligase family. Although differing in substrate specificity, subcellular localization, |and tissue distribution, all isozymes of this family convert free long-chain fatty |acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis |and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially |utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino |acid sequence of this isozyme is 92% identical to that of rat homolog. CHR|2 PRD|lignoceroyl-CoA synthase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268012 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2181[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6054072 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004457 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004457 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=268012 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.268012 |OMIM:602371 |SNP:2181 ENZ|EC:6.2.1.3 |fatty-acyl-CoA synthase activity ; GO:0004321 MAP|2q34-q35 HG|species == Mouse; gene == Facl3; score == 1367; expect == 0.0; MEOW:MGgn0021206 (92%) |species == rat; score == 1362; expect == 0.0; MEOW:ref|NP_476448.1| (92%) |species == Human; gene == FACL4; score == 943; expect == 0.0; MEOW:HUgn0002182 (67%) |species == Fruitfly; gene == l(2)44DEa; score == 646; expect == 0.0; MEOW:FBgn0010609 (49%) |species == Mosquito; gene == LOC11356; score == 624; expect == 2e-179; MEOW:AGgn0011356 (46%) |species == rice; score == 598; expect == 7e-171; MEOW:gnl|TIGR|8359.m00608 (48%) |species == Weed; gene == At1g77590; score == 596; expect == 1e-170; MEOW:ATgn0003846 (46%) |species == Worm; gene == C46F4.2; score == 585; expect == 2e-167; MEOW:CEgn0006588 (44%) |species == Weed; gene == At2g04350; score == 584; expect == 7e-167; MEOW:ATgn0009018 (47%) |species == Worm; gene == F37C12.7; score == 572; expect == 1e-163; MEOW:CEgn0010239 (45%) |species == rice; score == 559; expect == 2e-159; MEOW:gnl|TIGR|8358.m00604 (44%) |species == rice; score == 529; expect == 3e-150; MEOW:gnl|TIGR|8353.m02146 (40%) |species == Yeast; gene == FAA4; score == 311; expect == 1.0e-84; MEOW:SGgn0004860 (33%) |species == Yeast; gene == FAA1; score == 301; expect == 2.4e-82; MEOW:SGgn0005844 (31%) |species == Yeast; gene == FAA3; score == 297; expect == 1.2e-80; MEOW:SGgn0001271 (32%) } # EOR GENR { RETE|ID 1 HUgn0002182 CHR 1 X DID 1 LocusLink:2182 MAP 1 Xq22.3-q23 NAM 1 fatty-acid-Coenzyme A ligase, long-chain 4 ORG 1 Homo sapiens SYM 1 FACL4 ID|HUgn0002182 DID|LocusLink:2182 ORG|Homo sapiens RSQ|REFSEQ:NM_004458 |REFSEQ:NM_022977 RPA|REFPROT:NP_004449 |REFPROT:NP_075266 DBA|XM:NM_004458 |XM:NM_022977 |NA:AL138968 |NA:AB061713 |NA:AB061714 |NA:AF030555 |NA:BC034959 |NA:Y12777 |NA:Y13058 |NA:none PAC|XP:NP_004449 |XP:NP_075266 SYM|FACL4 NAM|fatty-acid-Coenzyme A ligase, long-chain 4 SYN|ACS4 |LACS4 |MRX63 FNC|long-chain fatty-acid-Coenzyme A ligase 4 isoform 1 |long-chain fatty-acid-Coenzyme A ligase 4 isoform 2 |learning and/or memory ; GO:0007611 |fatty acid metabolism ; GO:0006631 REAB|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme |A ligase family. Although differing in substrate specificity, subcellular localization, |and tissue distribution, all isozymes of this family convert free long-chain fatty |acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis |and fatty acid degradation. This isozyme preferentially utilizes arachidonate as |substrate. The absence of this enzyme may contribute to the mental retardation or |Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. CHR|X PRD|lignoceroyl-CoA synthase |Fatty acid coenzyme A ligase, long-chain 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=269559 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2182[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6091169 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022977 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022977 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=269559 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.269559 |OMIM:300157 |SNP:2182 ENZ|EC:6.2.1.3 |long-chain-fatty-acid-CoA ligase activity ; GO:0004467 |magnesium ion binding ; GO:0000287 |ligase activity ; GO:0016874 MAP|Xq22.3-q23 PHP|Mental retardation, X-linked nonspecific, 63 HG|species == rat; score == 1337; expect == 0.0; MEOW:ref|NP_446075.1| (97%) |species == Mouse; gene == Facl4; score == 1331; expect == 0.0; MEOW:MGgn0013754 (96%) |species == Human; gene == FACL3; score == 943; expect == 0.0; MEOW:HUgn0002181 (67%) |species == Fruitfly; gene == l(2)44DEa; score == 629; expect == 0.0; MEOW:FBgn0010609 (50%) |species == Mosquito; gene == LOC11356; score == 617; expect == 4e-177; MEOW:AGgn0011356 (48%) |species == Worm; gene == C46F4.2; score == 613; expect == 6e-176; MEOW:CEgn0006588 (46%) |species == Weed; gene == At2g04350; score == 605; expect == 3e-173; MEOW:ATgn0009018 (46%) |species == rice; score == 599; expect == 3e-171; MEOW:gnl|TIGR|8359.m00608 (48%) |species == Weed; gene == At1g77590; score == 591; expect == 5e-169; MEOW:ATgn0003846 (47%) |species == Worm; gene == F37C12.7; score == 590; expect == 6e-169; MEOW:CEgn0010239 (46%) |species == rice; score == 553; expect == 2e-157; MEOW:gnl|TIGR|8358.m00604 (46%) |species == rice; score == 512; expect == 3e-145; MEOW:gnl|TIGR|8353.m02146 (40%) |species == Yeast; gene == FAA4; score == 317; expect == 1.1e-86; MEOW:SGgn0004860 (32%) |species == Yeast; gene == FAA1; score == 302; expect == 1.3e-82; MEOW:SGgn0005844 (31%) |species == Yeast; gene == FAA3; score == 299; expect == 1.1e-81; MEOW:SGgn0001271 (30%) } # EOR GENR { RETE|ID 1 HUgn0002184 CHR 1 15 DID 1 LocusLink:2184 MAP 1 15q23-q25 NAM 1 fumarylacetoacetate hydrolase (fumarylacetoacetase) ORG 1 Homo sapiens SYM 1 FAH ID|HUgn0002184 DID|LocusLink:2184 ORG|Homo sapiens RSQ|REFSEQ:NM_000137 RPA|REFPROT:NP_000128 DBA|XM:NM_000137 |NA:BC002527 |NA:BT007160 |NA:BX537608 |NA:D28440 |NA:M55150 |NA:X51728 |NA:none PAC|XP:NP_000128 SYM|FAH NAM|fumarylacetoacetate hydrolase (fumarylacetoacetase) FNC|fumarylacetoacetate hydrolase (fumarylacetoacetase) |tyrosine catabolism ; GO:0006572 |phenylalanine catabolism ; GO:0006559 |metabolism ; GO:0008152 |aromatic amino acid family metabolism ; GO:0009072 REAB|This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). CHR|15 PRD|fumarylacetoacetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73875 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2184[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000137 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000137 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73875 |http://www.geneclinics.org/query?mim=276700 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00011 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00643 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 DBL|UNIGENE:Hs.73875 |OMIM:276700 |SNP:2184 |UWCM:119901.html ENZ|EC:3.7.1.2 |fumarylacetoacetase activity ; GO:0004334 |hydrolase activity ; GO:0016787 MAP|15q23-q25 PHP|Tyrosinemia, type I HG|species == Mouse; gene == Fah; score == 783; expect == 0.0; MEOW:MGgn0004185 (88%) |species == rat; score == 779; expect == 0.0; MEOW:ref|NP_058877.1| (88%) |species == Worm; gene == K10C2.4; score == 551; expect == 2e-157; MEOW:CEgn0013723 (64%) |species == Mosquito; gene == LOC17396; score == 519; expect == 1e-147; MEOW:AGgn0017396 (61%) |species == Fruitfly; gene == Faa; score == 506; expect == 5e-144; MEOW:FBgn0016013 (60%) |species == Weed; gene == At1g12050; score == 505; expect == 3e-143; MEOW:ATgn0000023 (58%) |species == rice; score == 491; expect == 5e-139; MEOW:gnl|TIGR|8351.m00900 (57%) } # EOR GENR { RETE|ID 1 HUgn0002185 CHR 1 8 DID 1 LocusLink:2185 MAP 1 8p21.1 NAM 1 PTK2B protein tyrosine kinase 2 beta ORG 1 Homo sapiens SYM 1 PTK2B ID|HUgn0002185 DID|LocusLink:2185 ORG|Homo sapiens RSQ|REFSEQ:NM_004103 |REFSEQ:NM_173174 |REFSEQ:NM_173175 |REFSEQ:NM_173176 RPA|REFPROT:NP_004094 |REFPROT:NP_775266 |REFPROT:NP_775267 |REFPROT:NP_775268 DBA|XM:NM_004103 |XM:NM_173174 |XM:NM_173175 |XM:NM_173176 |NA:BC036651 |NA:BC042599 |NA:BF796371 |NA:D45853 |NA:L49207 |NA:U33284 |NA:U43522 |NA:none PAC|XP:NP_004094 |XP:NP_775266 |XP:NP_775267 |XP:NP_775268 SYM|PTK2B NAM|PTK2B protein tyrosine kinase 2 beta SYN|PKB |PTK |CAKB |FAK2 |PYK2 |CADTK |FADK2 |RAFTK FNC|PTK2B protein tyrosine kinase 2 beta isoform a |PTK2B protein tyrosine kinase 2 beta isoform b |signal complex formation ; GO:0007172 |positive regulation of cell proliferation ; GO:0008284 |response to stress ; GO:0006950 |protein amino acid phosphorylation ; GO:0006468 |cell adhesion ; GO:0007155 |apoptosis ; GO:0006915 |protein complex assembly ; GO:0006461 |signal transduction ; GO:0007165 REAB|This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced |regulation of ion channels and activation of the map kinase signaling pathway. The |encoded protein may represent an important signaling intermediate between neuropeptide-activated |receptors or neurotransmitters that increase calcium flux and the downstream signals |that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation |and activation in response to increases in the intracellular calcium concentration, |nicotinic acetylcholine receptor activation, membrane depolarization, or protein |kinase C activation. This protein has been shown to bind CRK-associated substrate, |nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. |The encoded protein is a member of the FAK subfamily of protein tyrosine kinases |but lacks significant sequence similarity to kinases from other subfamilies. Four |transcript variants encoding two different isoforms have been found for this gene. CHR|8 PRD|CAK beta |protein kinase B |focal adhesion kinase 2 |cell adhesion kinase beta |proline-rich tyrosine kinase 2 |protein tyrosine kinase 2 beta |calcium-dependent tyrosine kinase |related adhesion focal tyrosine kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405474 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2185[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9467868 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_173174 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_173174 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=405474 DBL|UNIGENE:Hs.405474 |OMIM:601212 |SNP:2185 ENZ|EC:2.7.1.112 |non-membrane spanning protein tyrosine kinase activity ; GO:0004715 |focal adhesion kinase activity ; GO:0004717 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |transferase activity ; GO:0016740 MAP|8p21.1 CEL|cytoskeleton ; GO:0005856 HG|species == rat; score == 1885; expect == 0.0; MEOW:ref|NP_059014.1| (95%) |species == Mouse; gene == Ptk2b; score == 1733; expect == 0.0; MEOW:MGgn0009562 (91%) |species == Zfish; gene == ptk2; score == 769; expect == 0.0; MEOW:ZFgn0002424 (46%) |species == Human; gene == PTK2; score == 766; expect == 0.0; MEOW:HUgn0005747 (45%) |species == Mosquito; gene == LOC8377; score == 518; expect == 4e-147; MEOW:AGgn0008377 (32%) |species == Fruitfly; gene == Fak56D; score == 471; expect == 1e-132; MEOW:FBgn0020440 (31%) |species == Worm; gene == kin-32; score == 308; expect == 6.6e-84; MEOW:CEgn0030618 (30%) |species == chimp; score == 148; expect == 3.0e-37; MEOW:sp|BAC78172|BAC78172 (35%) } # EOR GENR { RETE|ID 1 HUgn0002186 CHR 1 17 DID 1 LocusLink:2186 MAP 1 17q24.3 NAM 1 fetal Alzheimer antigen ORG 1 Homo sapiens SYM 1 FALZ ID|HUgn0002186 DID|LocusLink:2186 ORG|Homo sapiens RSQ|REFSEQ:NM_004459 |REFSEQ:NM_182641 RPA|REFPROT:NP_004450 |REFPROT:NP_872579 DBA|XM:NM_004459 |NA:AB032251 |NA:AK022570 |NA:AK025776 |NA:AK027184 |NA:AL833375 |NA:AY282495 |NA:BC037422 |NA:BC039881 |NA:BC050566 |NA:U05237 PAC|XP:NP_004450 SYM|FALZ NAM|fetal Alzheimer antigen SYN|BPTF |FAC1 |NURF301 FNC|fetal Alzheimer antigen isoform 1 |fetal Alzheimer antigen isoform 2 |neurogenesis ; GO:0007399 REAB|This gene was identified by the reactivity of its encoded protein to a monoclonal |antibody prepared against brain homogenates from patients with Alzheimer's disease. |Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified |as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested |it might play a role in the regulation of transcription. High levels of FAC1 were |detected in fetal brain and in patients with neurodegenerative diseases. The protein |encoded by this gene is actually much larger than originally thought, and it also |contains a C-terminal bromodomain characteristic of proteins that regulate transcription |during proliferation. The encoded protein is highly similar to the largest subunit |of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the |NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific |transcription factors, is necessary for the chromatin remodeling required for transcription. |Two alternative transcripts encoding different isoforms have been described completely. CHR|17 PRD|fetal Alz-50 reactive clone 1 |nucleosome remodeling factor, large subunit |bromodomain and PHD domain transcription factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440947 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2186[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573958 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182641 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182641 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440947 DBL|UNIGENE:Hs.440947 |OMIM:601819 |SNP:2186 MAP|17q24.3 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 913; expect == 0.0; MEOW:ref|XP_221050.2| (68%) |species == Fruitfly; gene == E(bx); score == 364; expect == 5e-101; MEOW:FBgn0000541 (51%) |species == Worm; gene == F26H11.2a; score == 188; expect == 1.1e-47; MEOW:CEgn0027962 (32%) |species == Worm; gene == F26H11.2b; score == 188; expect == 1.1e-47; MEOW:CEgn0027963 (32%) } # EOR GENR { RETE|ID 1 HUgn0002187 DID 1 LocusLink:2187 NAM 1 Fanconi anemia, complementation group B ORG 1 Homo sapiens SYM 1 FANCB ID|HUgn0002187 DID|LocusLink:2187 ORG|Homo sapiens SYM|FANCB NAM|Fanconi anemia, complementation group B SYN|FAB DBL|OMIM:227660 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9864269 |http://www.geneclinics.org/query?mim=227660 } # EOR GENR { RETE|ID 1 HUgn0002188 CHR 1 11 DID 1 LocusLink:2188 MAP 1 11p15 NAM 1 Fanconi anemia, complementation group F ORG 1 Homo sapiens SYM 1 FANCF ID|HUgn0002188 DID|LocusLink:2188 ORG|Homo sapiens RSQ|REFSEQ:NM_022725 RPA|REFPROT:NP_073562 DBA|XM:NM_022725 |NA:AF181994 |NA:AF181995 |NA:AK001716 |NA:AK023153 |NA:BC005077 |NA:BC047028 |NA:BX640996 |NA:none PAC|XP:NP_073562 SYM|FANCF NAM|Fanconi anemia, complementation group F SYN|FAF FNC|Fanconi anemia, complementation group F |DNA repair ; GO:0006281 |biological_process unknown ; GO:0000004 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65328 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=523543 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2188[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864270 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022725 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022725 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=65328 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=523543 |http://www.geneclinics.org/query?mim=603467 DBL|UNIGENE:Hs.65328 |UNIGENE:Hs.523543 |OMIM:603467 |SNP:2188 MAP|11p15 PHP|Fanconi anemia, complementation group F ENZ|molecular_function unknown ; GO:0005554 CEL|nucleus ; GO:0005634 |cellular_component unknown ; GO:0008372 } # EOR GENR { RETE|ID 1 HUgn0002189 CHR 1 9 DID 1 LocusLink:2189 MAP 1 9p13 NAM 1 Fanconi anemia, complementation group G ORG 1 Homo sapiens SYM 1 FANCG ID|HUgn0002189 DID|LocusLink:2189 ORG|Homo sapiens RSQ|REFSEQ:NM_004629 RPA|REFPROT:NP_004620 DBA|XM:NM_004629 |NA:AC004472 |NA:AJ007669 |NA:BC000032 |NA:BC011623 |NA:BT009813 |NA:U70310 |NA:none PAC|XP:NP_004620 SYM|FANCG NAM|Fanconi anemia, complementation group G SYN|FAG |XRCC9 FNC|Fanconi anemia, complementation group G |cell cycle checkpoint ; GO:0000075 |DNA repair ; GO:0006281 REAB|FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin |C. FANCG contains a 5-prime GC-rich untranslated region characteristic of housekeeping |genes. The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. | Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, |including developmental anomalies, bone marrow failure, and early occurrence of |malignancies. A minimum of 8 FA genes have been identified. The FANCG gene is responsible |for complementation group G. CHR|9 PRD|DNA repair protein XRCC9 |X-ray repair, complementing defective, in Chinese hamster, 9 |X-ray repair complementing defective repair in Chinese hamster cells 9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434873 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2189[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6873947 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004629 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004629 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434873 |http://www.geneclinics.org/query?mim=602956 DBL|UNIGENE:Hs.434873 |OMIM:602956 |SNP:2189 MAP|9p13 PHP|Fanconi anemia, complementation group G ENZ|damaged DNA binding ; GO:0003684 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fancg; score == 708; expect == 0.0; MEOW:MGgn0014779 (72%) } # EOR GENR { RETE|ID 1 HUgn0002191 CHR 1 2 DID 1 LocusLink:2191 MAP 1 2q23 NAM 1 fibroblast activation protein, alpha ORG 1 Homo sapiens SYM 1 FAP ID|HUgn0002191 DID|LocusLink:2191 ORG|Homo sapiens RSQ|REFSEQ:NM_004460 RPA|REFPROT:NP_004451 DBA|XM:NM_004460 |NA:AF007822 |NA:AK055327 |NA:BC026250 |NA:U09278 |NA:U76833 |NA:none PAC|XP:NP_004451 SYM|FAP NAM|fibroblast activation protein, alpha SYN|FAPA |DPPIV |SEPRASE FNC|fibroblast activation protein, alpha subunit REAB|The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging |to the serine protease family. It is selectively expressed in reactive stromal fibroblasts |of epithelial cancers, granulation tissue of healing wounds, and malignant cells |of bone and soft tissue sarcomas. This protein is thought to be involved in the |control of fibroblast growth or epithelial-mesenchymal interactions during development, |tissue repair, and epithelial carcinogenesis. CHR|2 PRD|seprase |integral membrane serine protease URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436852 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2191[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:374184 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004460 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004460 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436852 DBL|UNIGENE:Hs.436852 |OMIM:600403 |SNP:2191 MAP|2q23 HG|species == Mouse; gene == Fap; score == 1431; expect == 0.0; MEOW:MGgn0004190 (89%) |species == rat; score == 1401; expect == 0.0; MEOW:ref|NP_620205.1| (88%) |species == Human; gene == DPP4; score == 833; expect == 0.0; MEOW:HUgn0001803 (53%) |species == Mosquito; score == 454; expect == 8e-128; MEOW:AGgn0015082 (37%) |species == Fruitfly; gene == ome; score == 404; expect == 8e-113; MEOW:FBgn0002997 (32%) |species == Fruitfly; gene == CG11034; score == 376; expect == 1e-104; MEOW:FBgn0031741 (31%) |species == Yeast; gene == DAP2; score == 287; expect == 2.5e-77; MEOW:SGgn0001070 (28%) |species == Worm; gene == C27C12.7; score == 263; expect == 3.0e-70; MEOW:CEgn0005496 (30%) |species == Worm; gene == T23F1.7a; score == 263; expect == 2.2e-70; MEOW:CEgn0016762 (29%) |species == Worm; gene == T23F1.7b; score == 262; expect == 5.0e-70; MEOW:CEgn0016763 (30%) |species == Yeast; gene == STE13; score == 241; expect == 1.4e-63; MEOW:SGgn0005745 (25%) |species == Weed; gene == At5g24260; score == 205; expect == 8.7e-53; MEOW:ATgn0023267 (27%) |species == rice; score == 182; expect == 8.2e-46; MEOW:gnl|TIGR|8351.m01730 (26%) } # EOR GENR { RETE|ID 1 HUgn0002192 CHR 1 22 DID 1 LocusLink:2192 MAP 1 22q13.31 NAM 1 fibulin 1 ORG 1 Homo sapiens SYM 1 FBLN1 ID|HUgn0002192 DID|LocusLink:2192 ORG|Homo sapiens RSQ|REFSEQ:NM_001996 |REFSEQ:NM_006485 |REFSEQ:NM_006486 |REFSEQ:NM_006487 RPA|REFPROT:NP_001987 |REFPROT:NP_006476 |REFPROT:NP_006477 |REFPROT:NP_006478 DBA|XM:NM_001996 |XM:NM_006485 |XM:NM_006486 |XM:NM_006487 |NA:Z98047 |NA:AF126110 |NA:AF217999 |NA:AI092723 |NA:AK075460 |NA:AK075566 |NA:BC022497 |NA:BX403501 |NA:BX424750 |NA:BX443677 |NA:U01244 |NA:X53741 |NA:X53742 |NA:X53743 PAC|XP:NP_001987 |XP:NP_006476 |XP:NP_006477 |XP:NP_006478 SYM|FBLN1 NAM|fibulin 1 SYN|FBLN FNC|fibulin 1 isoform A precursor |fibulin 1 isoform B precursor |fibulin 1 isoform C precursor |fibulin 1 isoform D REAB|Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular |matrix. Calcium-binding is apparently required to mediate its binding to laminin |and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants |which differ in the 3' end have been identified. Each variant encodes a different |isoform, but no functional distinctions have been identified among the four variants. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445240 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2192[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:278285 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006486 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006486 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445240 DBL|UNIGENE:Hs.445240 |OMIM:135820 |SNP:2192 MAP|22q13.31 PHP|Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses ENZ|extracellular matrix glycoprotein ; GO:0005207 CEL|extracellular matrix ; GO:0005578 |soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == rat; score == 1257; expect == 0.0; MEOW:ref|XP_243637.2| (86%) |species == Mouse; gene == Fbln1; score == 1042; expect == 0.0; MEOW:MGgn0004215 (72%) |species == Zfish; gene == fbln1; score == 679; expect == 0.0; MEOW:ZFgn0000527 (50%) |species == Human; gene == FBLN2; score == 644; expect == 0.0; MEOW:HUgn0002199 (55%) |species == Mosquito; gene == LOC17954; score == 319; expect == 2.1e-87; MEOW:AGgn0017954 (32%) |species == Fruitfly; gene == CG31999; score == 307; expect == 8.6e-84; MEOW:FBgn0051999 (33%) |species == Worm; gene == ZK783.1; score == 188; expect == 5.2e-48; MEOW:CEgn0021184 (31%) } # EOR GENR { RETE|ID 1 HUgn0002193 CHR 1 19 DID 1 LocusLink:2193 MAP 1 19p13.2 NAM 1 phenylalanine-tRNA synthetase-like ORG 1 Homo sapiens SYM 1 FARSL ID|HUgn0002193 DID|LocusLink:2193 ORG|Homo sapiens RSQ|REFSEQ:NM_004461 RPA|REFPROT:NP_004452 DBA|XM:NM_004461 |NA:AD000092 |NA:AF042347 |NA:AK092093 |NA:AK130195 |NA:BC006495 |NA:BC035438 |NA:BC043565 |NA:BT007198 |NA:D84471 |NA:U07424 |NA:none PAC|XP:NP_004452 SYM|FARSL NAM|phenylalanine-tRNA synthetase-like SYN|FRSA |CML33 |PheHA FNC|phenylalanine-tRNA synthetase-like protein |pathogenesis ; GO:0009405 |phenylalanyl-tRNA aminoacylation ; GO:0006432 REAB|Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate |amino acids. FARSL encodes a product which is similar to the catalytic subunit of |prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). |FARSL has been shown to be expressed in a tumor-selective and cell cycle stage- |and differentiation-dependent manner, the first member of the tRNA synthetase gene |family shown to exhibit this type of regulated expression CHR|19 PRD|phenylalanine-tRNA synthetase alpha-subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23111 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2193[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6284294 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004461 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004461 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=23111 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00400 DBL|UNIGENE:Hs.23111 |OMIM:602918 |SNP:2193 MAP|19p13.2 ENZ|phenylalanine-tRNA ligase activity ; GO:0004826 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 922; expect == 0.0; MEOW:ref|XP_213840.2| (92%) |species == Fruitfly; gene == CG2263; score == 601; expect == 2e-172; MEOW:FBgn0030007 (62%) |species == Mosquito; gene == LOC21060; score == 590; expect == 6e-169; MEOW:AGgn0021060 (57%) |species == Worm; gene == frs-1; score == 579; expect == 1e-165; MEOW:CEgn0030934 (60%) |species == Weed; gene == At4g39280; score == 532; expect == 1e-151; MEOW:ATgn0020553 (54%) |species == Mouse; gene == 0610012A19Rik; score == 505; expect == 1e-143; MEOW:MGgn0015330 (90%) |species == rice; score == 467; expect == 8e-132; MEOW:gnl|TIGR|8362.m01968 (52%) |species == Yeast; gene == FRS2; score == 456; expect == 2e-128; MEOW:SGgn0001872 (49%) } # EOR GENR { RETE|ID 1 HUgn0002194 CHR 1 17 DID 1 LocusLink:2194 MAP 1 17q25 NAM 1 fatty acid synthase ORG 1 Homo sapiens SYM 1 FASN ID|HUgn0002194 DID|LocusLink:2194 ORG|Homo sapiens RSQ|REFSEQ:NM_004104 RPA|REFPROT:NP_004095 DBA|XM:NM_004104 |NA:U52428 |NA:BC007267 |NA:BC007305 |NA:BC007909 |NA:BC014631 |NA:BC014634 |NA:BC021544 |NA:S80437 |NA:U26644 |NA:U29344 |NA:none PAC|XP:NP_004095 SYM|FASN NAM|fatty acid synthase SYN|FAS |OA-519 |MGC14367 |MGC15706 FNC|fatty acid synthase |fatty acid biosynthesis ; GO:0006633 |biosynthesis ; GO:0009058 REAB|The enzyme encoded by this gene is a multifunctional protein. Its main function is |to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence |of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this |protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which |the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83190 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2194[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:342064 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004104 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004104 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83190 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00061 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 DBL|UNIGENE:Hs.83190 |OMIM:600212 |SNP:2194 ENZ|EC:2.3.1.85 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |S-adenosylmethionine-dependent methyltransferase activity ; GO:0008757 |zinc ion binding ; GO:0008270 |[acyl-carrier protein] S-malonyltransferase activity ; GO:0004314 |oxidoreductase activity ; GO:0016491 |transferase activity ; GO:0016740 |hydrolase activity, acting on ester bonds ; GO:0016788 |lyase activity ; GO:0016829 |oleoyl-[acyl-carrier protein] hydrolase activity ; GO:0004320 MAP|17q25 HG|species == Mouse; gene == Fasn; score == 3961; expect == 0.0; MEOW:MGgn0004206 (80%) |species == Worm; gene == F32H2.5; score == 1830; expect == 0.0; MEOW:CEgn0009857 (41%) |species == Mosquito; gene == LOC16695; score == 1102; expect == 0.0; MEOW:AGgn0016695 (49%) |species == Fruitfly; gene == CG3523; score == 1085; expect == 0.0; MEOW:FBgn0027571 (48%) |species == Fruitfly; gene == v(2)k05816; score == 907; expect == 0.0; MEOW:FBgn0042627 (45%) } # EOR GENR { RETE|ID 1 HUgn0002195 CHR 1 4 DID 1 LocusLink:2195 MAP 1 4q34-q35 NAM 1 FAT tumor suppressor homolog 1 (Drosophila) ORG 1 Homo sapiens SYM 1 FAT ID|HUgn0002195 DID|LocusLink:2195 ORG|Homo sapiens RSQ|REFSEQ:NM_005245 RPA|REFPROT:NP_005236 DBA|XM:NM_005245 |NA:D88798 |NA:X87241 |NA:none PAC|XP:NP_005236 SYM|FAT NAM|FAT tumor suppressor homolog 1 (Drosophila) SYN|ME5 |CDHF7 FNC|FAT tumor suppressor precursor |homophilic cell adhesion ; GO:0007156 |embryogenesis and morphogenesis ; GO:0007345 |cell adhesion ; GO:0007155 |cell-cell signaling ; GO:0007267 REAB|This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor |essential for controlling cell proliferation during Drosophila development. The |gene product is a member of the cadherin superfamily, a group of integral membrane |proteins characterized by the presence of cadherin-type repeats. In addition to |containing 34 tandem cadherin-type repeats, the gene product has five epidermal |growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed |at high levels in a number of fetal epithelia. Its product probably functions as |an adhesion molecule and/or signaling receptor, and is likely to be important in |developmental processes and cell communication. Transcript variants derived from |alternative splicing and/or alternative promoter usage exist, but they have not |been fully described. CHR|4 PRD|cadherin ME5 |homolog of Drosophila Fat protein |cadherin family member 7 precursor |homolog of Drosophila Fat protein precursor |cadherin-related tumor suppressor homolog precursor |homolog of Drosophila tumor suppressor Fat precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166994 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2195[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:624592 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005245 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005245 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28007 DBL|UNIGENE:Hs.166994 |OMIM:600976 |SNP:2195 MAP|4q34-q35 ENZ|calcium ion binding ; GO:0005509 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 8001; expect == 0.0; MEOW:ref|XP_346490.1| (87%) |species == Human; gene == FAT2; score == 3474; expect == 0.0; MEOW:HUgn0002196 (45%) |species == Human; gene == FAT3; score == 3126; expect == 0.0; MEOW:HUgn0120114 (48%) |species == Fruitfly; gene == fat2; score == 2702; expect == 0.0; MEOW:FBgn0036930 (36%) |species == Mosquito; gene == LOC14551; score == 1389; expect == 0.0; MEOW:AGgn0014551 (37%) |species == Mosquito; score == 1120; expect == 0.0; MEOW:AGgn0007226 (27%) |species == Mouse; gene == Cdh23; score == 867; expect == 0.0; MEOW:MGgn0028480 (28%) |species == Worm; gene == R10F2.1; score == 368; expect == 4e-101; MEOW:CEgn0014784 (25%) |species == Zfish; gene == pcdh8; score == 202; expect == 2.4e-52; MEOW:ZFgn0000061 (30%) } # EOR GENR { RETE|ID 1 HUgn0002196 CHR 1 5 DID 1 LocusLink:2196 MAP 1 5q32-q33 NAM 1 FAT tumor suppressor homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 FAT2 ID|HUgn0002196 DID|LocusLink:2196 ORG|Homo sapiens RSQ|REFSEQ:NM_001447 RPA|REFPROT:NP_001438 DBA|XM:NM_001447 |NA:AB011535 |NA:AF231022 |NA:AL157443 |NA:BC039143 |NA:none PAC|XP:NP_001438 SYM|FAT2 NAM|FAT tumor suppressor homolog 2 (Drosophila) SYN|CDHF8 |HFAT2 |MEGF1 FNC|FAT tumor suppressor 2 precursor |homophilic cell adhesion ; GO:0007156 |biological_process unknown ; GO:0000004 REAB|This gene is the second identified human homolog of the Drosophila fat gene, which |encodes a tumor suppressor essential for controlling cell proliferation during Drosophila |development. The gene product is a member of the cadherin superfamily, a group of |integral membrane proteins characterized by the presence of cadherin-type repeats. |In addition to containing 34 tandem cadherin-type repeats, the gene product has |two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein |most likely functions as a cell adhesion molecule, controlling cell proliferation |and playing an important role in cerebellum development. CHR|5 PRD|protocadherin FAT2 |cadherin family member 8 |multiple epidermal growth factor-like domains 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=132158 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2196[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001447 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001447 DBL|UNIGENE:Hs.132158 |OMIM:604269 |SNP:2196 MAP|5q32-q33 ENZ|calcium ion binding ; GO:0005509 CEL|integral to membrane ; GO:0016021 |cellular_component unknown ; GO:0008372 HG|species == rat; score == 5149; expect == 0.0; MEOW:ref|XP_346394.1| (82%) |species == Human; gene == FAT; score == 3474; expect == 0.0; MEOW:HUgn0002195 (45%) |species == Fruitfly; gene == fat2; score == 1993; expect == 0.0; MEOW:FBgn0036930 (33%) |species == Mosquito; score == 921; expect == 0.0; MEOW:AGgn0007226 (25%) |species == Mosquito; gene == LOC14551; score == 889; expect == 0.0; MEOW:AGgn0014551 (35%) |species == Mouse; gene == Cdh23; score == 849; expect == 0.0; MEOW:MGgn0028480 (28%) |species == Worm; gene == R10F2.1; score == 345; expect == 3.0e-94; MEOW:CEgn0014784 (24%) |species == Zfish; gene == pcdh8; score == 216; expect == 9.0e-57; MEOW:ZFgn0000061 (30%) } # EOR GENR { RETE|ID 1 HUgn0002197 CHR 1 11 DID 1 LocusLink:2197 MAP 1 11q13 NAM 1 Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); ribosomal protein S30 ORG 1 Homo sapiens SYM 1 FAU ID|HUgn0002197 DID|LocusLink:2197 ORG|Homo sapiens RSQ|REFSEQ:NM_001997 RPA|REFPROT:NP_001988 DBA|XM:NM_001997 |NA:X65921 |NA:AK026639 |NA:BC033877 |NA:D28403 |NA:X65923 |NA:none PAC|XP:NP_001988 SYM|FAU NAM|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); ribosomal protein S30 SYN|FAU1 |RPS30 FNC|ubiquitin-like protein fubi and ribosomal protein S30 precursor |protein biosynthesis ; GO:0006412 REAB|This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly |murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like |protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has |been proposed that the fusion protein is post-translationally processed to generate |free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, |and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas |the function of fubi is currently unknown, ribosomal protein S30 is a component |of the 40S subunit of the cytoplasmic ribosome. Pseudogenes derived from this gene |are present in the genome. Similar to ribosomal protein S30, ribosomal proteins |S27a and L40 are synthesized as fusion proteins with ubiquitin. CHR|11 PRD|40S ribosomal protein S30 |ubiquitin-like protein fubi |ubiquitin-like-S30 fusion protein |FAU-encoded ubiquitin-like protein |FBR-MuSV-associated ubiquitously expressed gene URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387208 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2197[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135476 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001997 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001997 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=387208 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=03010 DBL|UNIGENE:Hs.387208 |OMIM:134690 |SNP:2197 MAP|11q13 ENZ|ubiquitin ; GO:0005551 |structural protein of ribosome ; GO:0003735 |RNA binding ; GO:0003723 CEL|ribosome ; GO:0005840 |cytoplasm ; GO:0005737 HG|species == rat; score == 219; expect == 4.3e-58; MEOW:ref|XP_342001.1| (98%) |species == Mouse; gene == Fau; score == 216; expect == 1.5e-57; MEOW:MGgn0004210 (97%) |species == rat; score == 215; expect == 5.7e-57; MEOW:ref|XP_343942.1| (89%) |species == rat; score == 204; expect == 1.1e-53; MEOW:ref|XP_345683.1| (98%) } # EOR GENR { RETE|ID 1 HUgn0002198 CHR 1 11 DID 1 LocusLink:2198 MAP 1 11q13 NAM 1 FAU neighboring area cluster ORG 1 Homo sapiens SYM 1 FAUNA@ ID|HUgn0002198 DID|LocusLink:2198 ORG|Homo sapiens SYM|FAUNA@ NAM|FAU neighboring area cluster CHR|11 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9539631 } # EOR GENR { RETE|ID 1 HUgn0002199 CHR 1 3 DID 1 LocusLink:2199 MAP 1 3p25-p24 NAM 1 fibulin 2 ORG 1 Homo sapiens SYM 1 FBLN2 ID|HUgn0002199 DID|LocusLink:2199 ORG|Homo sapiens RSQ|REFSEQ:NM_001998 RPA|REFPROT:NP_001989 DBA|XM:NM_001998 |NA:AK129883 |NA:AL050095 |NA:AY130459 |NA:BC051690 |NA:X82494 PAC|XP:NP_001989 SYM|FBLN2 NAM|fibulin 2 FNC|fibulin 2 precursor REAB|Fibulin-2 is an extracellular matrix protein containing 3 consecutive anaphylatoxin-related |segments in its central region followed by 10 EGF-like repeats, 9 of which had a |consensus sequence for calcium binding. It may regulate interactions between adhesion |receptors and the cytoskeleton. CHR|3 PRD|Fibulin-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=198862 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2199[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:293037 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001998 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001998 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=198862 DBL|UNIGENE:Hs.198862 |OMIM:135821 |SNP:2199 MAP|3p25-p24 ENZ|extracellular matrix glycoprotein ; GO:0005207 |calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 1849; expect == 0.0; MEOW:ref|XP_232197.2| (78%) |species == Mouse; gene == Fbln2; score == 1847; expect == 0.0; MEOW:MGgn0004216 (78%) |species == Human; gene == FBLN1; score == 644; expect == 0.0; MEOW:HUgn0002192 (55%) |species == Zfish; gene == fbln1; score == 469; expect == 2e-132; MEOW:ZFgn0000527 (45%) |species == Fruitfly; gene == CG31999; score == 322; expect == 4.7e-88; MEOW:FBgn0051999 (31%) |species == Mosquito; gene == LOC17954; score == 316; expect == 3.1e-86; MEOW:AGgn0017954 (31%) |species == Mosquito; score == 271; expect == 7.0e-73; MEOW:AGgn0004359 (34%) |species == Worm; gene == ZK783.1; score == 183; expect == 3.1e-46; MEOW:CEgn0021184 (28%) } # EOR GENR { RETE|ID 1 HUgn0002200 CHR 1 15 DID 1 LocusLink:2200 MAP 1 15q21.1 NAM 1 fibrillin 1 (Marfan syndrome) ORG 1 Homo sapiens SYM 1 FBN1 ID|HUgn0002200 DID|LocusLink:2200 ORG|Homo sapiens RSQ|REFSEQ:NM_000138 RPA|REFPROT:NP_000129 DBA|XM:NM_000138 |NA:L13923 |NA:W81203 |NA:X63556 |NA:none PAC|XP:NP_000129 SYM|FBN1 NAM|fibrillin 1 (Marfan syndrome) SYN|FBN |SGS |MASS |MFS1 |OCTD FNC|fibrillin 1 |vision ; GO:0007601 |skeletal development ; GO:0001501 |development ; GO:0007275 REAB|This gene encodes the fibrillin protein, an important component of extracellular |microfibrils. The encoded protein is found in elastic and nonelastic connective |tissues of the body. Mutations in this gene cause Marfan syndrome. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=750 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2200[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127115 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000138 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000138 |http://www.geneclinics.org/query?mim=134797 |http://www.ncbi.nlm.nih.gov/disease/Marfan.html |http://www.umd.necker.fr/Site%20Marfan/Marfan_Home_Page.html DBL|UNIGENE:Hs.750 |OMIM:134797 |SNP:2200 |UWCM:127115.html MAP|15q21.1 PHP|Ectopia lentis, familial |Marfan syndrome |MASS syndrome |Shprintzen-Goldberg syndrome ENZ|extracellular matrix structural constituent ; GO:0005201 |calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Fbn1; score == 6040; expect == 0.0; MEOW:MGgn0004220 (96%) |species == rat; score == 5216; expect == 0.0; MEOW:ref|NP_114013.1| (96%) |species == Human; gene == FBN3; score == 3901; expect == 0.0; MEOW:HUgn0084467 (59%) |species == Human; gene == FBN2; score == 3878; expect == 0.0; MEOW:HUgn0002201 (69%) |species == Mosquito; gene == LOC5397; score == 538; expect == 1e-152; MEOW:AGgn0005397 (29%) |species == Fruitfly; gene == N; score == 511; expect == 2e-144; MEOW:FBgn0004647 (29%) |species == Zfish; gene == notch1a; score == 505; expect == 1e-142; MEOW:ZFgn0000457 (28%) |species == Mosquito; score == 434; expect == 1e-121; MEOW:AGgn0004359 (33%) |species == Worm; gene == ZK783.1; score == 287; expect == 6.5e-77; MEOW:CEgn0021184 (27%) } # EOR GENR { RETE|ID 1 HUgn0002201 CHR 1 5 DID 1 LocusLink:2201 MAP 1 5q23-q31 NAM 1 fibrillin 2 (congenital contractural arachnodactyly) ORG 1 Homo sapiens SYM 1 FBN2 ID|HUgn0002201 DID|LocusLink:2201 ORG|Homo sapiens RSQ|REFSEQ:NM_001999 RPA|REFPROT:NP_001990 DBA|XM:NM_001999 |NA:AF193046 |NA:U03272 |NA:none PAC|XP:NP_001990 SYM|FBN2 NAM|fibrillin 2 (congenital contractural arachnodactyly) SYN|CCA FNC|fibrillin 2 (congenital contractural arachnodactyly) |embryogenesis and morphogenesis ; GO:0007345 |histogenesis and organogenesis ; GO:0007397 REAB|Fibrillin 2 is an extracellular matrix protein, which may regulate the formation |and maintenance of extracellular microfibrils. Mutations in FBN2 may cause congenital |contractural arachnodactyly. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79432 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2201[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128122 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001999 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001999 |http://www.geneclinics.org/query?mim=121050 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28017 DBL|UNIGENE:Hs.79432 |OMIM:121050 |SNP:2201 MAP|5q23-q31 PHP|Contractural arachnodactyly, congenital ENZ|extracellular matrix structural constituent ; GO:0005201 |calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Fbn2; score == 6031; expect == 0.0; MEOW:MGgn0004221 (95%) |species == rat; score == 5969; expect == 0.0; MEOW:ref|NP_114014.1| (94%) |species == Human; gene == FBN3; score == 4318; expect == 0.0; MEOW:HUgn0084467 (66%) |species == Human; gene == FBN1; score == 3878; expect == 0.0; MEOW:HUgn0002200 (69%) |species == Mosquito; gene == LOC5397; score == 538; expect == 2e-152; MEOW:AGgn0005397 (28%) |species == Fruitfly; gene == N; score == 527; expect == 4e-149; MEOW:FBgn0004647 (29%) |species == Zfish; gene == notch1a; score == 500; expect == 4e-142; MEOW:ZFgn0000457 (29%) |species == Mosquito; score == 437; expect == 3e-122; MEOW:AGgn0004359 (32%) |species == Worm; gene == ZK783.1; score == 295; expect == 1.8e-79; MEOW:CEgn0021184 (27%) } # EOR GENR { RETE|ID 1 HUgn0002202 CHR 1 2 DID 1 LocusLink:2202 MAP 1 2p16 NAM 1 EGF-containing fibulin-like extracellular matrix protein 1 ORG 1 Homo sapiens SYM 1 EFEMP1 ID|HUgn0002202 DID|LocusLink:2202 ORG|Homo sapiens RSQ|REFSEQ:NM_004105 |REFSEQ:NM_018894 RPA|REFPROT:NP_004096 |REFPROT:NP_061489 DBA|XM:NM_004105 |XM:NM_018894 |NA:BC014410 |NA:U03877 |NA:none PAC|XP:NP_004096 |XP:NP_061489 SYM|EFEMP1 NAM|EGF-containing fibulin-like extracellular matrix protein 1 SYN|DHRD |DRAD |FBNL |MLVT |S1-5 |FBLN3 FNC|EGF-containing fibulin-like extracellular matrix protein 1 isoform a precursor |EGF-containing fibulin-like extracellular matrix protein 1 isoform b |vision ; GO:0007601 REAB|This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Two |transcripts with distinct 5' UTR have been described; the resulting proteins have |distinct N-terminal amino acid sequences. Translation initiation from internal |methionine residues was observed with in vitro translation. A signal peptide sequence |is predicted for translation initiation sites 1, 2, and 4. The protein isoforms |contain 5 or 6 calcium-binding EGF2 domains and 5 or 6 EGF2 domains. Mutations in |this gene cause the retinal disease Malattia Leventinese. CHR|2 PRD|fibrillin-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76224 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2202[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1220111 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004105 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004105 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76224 |http://www.geneclinics.org/query?mim=601548 |http://www.retina-international.com/sci-news/efempmut.htm DBL|UNIGENE:Hs.76224 |OMIM:601548 |SNP:2202 MAP|2p16 PHP|Doyne honeycomb degeneration of retina ENZ|calcium ion binding ; GO:0005509 CEL|extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Efemp1; score == 801; expect == 0.0; MEOW:MGgn0003717 (95%) |species == rat; score == 517; expect == 6e-147; MEOW:ref|XP_344274.1| (85%) |species == rat; score == 451; expect == 4e-127; MEOW:ref|XP_238154.2| (56%) |species == Human; gene == EFEMP2; score == 443; expect == 9e-125; MEOW:HUgn0030008 (56%) |species == Human; gene == FBLN5; score == 414; expect == 4e-116; MEOW:HUgn0010516 (41%) |species == Mosquito; gene == LOC17954; score == 206; expect == 1.8e-53; MEOW:AGgn0017954 (28%) |species == Fruitfly; gene == CG31999; score == 202; expect == 2.0e-52; MEOW:FBgn0051999 (28%) |species == Zfish; gene == fbln1; score == 200; expect == 6.8e-53; MEOW:ZFgn0000527 (35%) |species == Mosquito; score == 175; expect == 3.3e-44; MEOW:AGgn0004359 (28%) |species == Worm; gene == ZK783.1; score == 136; expect == 2.7e-32; MEOW:CEgn0021184 (36%) } # EOR GENR { RETE|ID 1 HUgn0002203 CHR 1 9 DID 1 LocusLink:2203 MAP 1 9q22.3 NAM 1 fructose-1,6-bisphosphatase 1 ORG 1 Homo sapiens SYM 1 FBP1 ID|HUgn0002203 DID|LocusLink:2203 ORG|Homo sapiens RSQ|REFSEQ:NM_000507 RPA|REFPROT:NP_000498 DBA|XM:NM_000507 |NA:U21925 |NA:U21931 |NA:AF073475 |NA:BC012927 |NA:D26054 |NA:D26055 |NA:D26056 |NA:L10320 |NA:M19922 |NA:U47918 |NA:U47919 |NA:none PAC|XP:NP_000498 SYM|FBP1 NAM|fructose-1,6-bisphosphatase 1 SYN|FBP FNC|fructose-1,6-bisphosphatase 1 |fructose metabolism ; GO:0006000 |gluconeogenesis ; GO:0006094 |carbohydrate metabolism ; GO:0005975 REAB|Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the |hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. |Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic |acidosis. CHR|9 PRD|fructose-bisphosphatase 1 |liver fructose-bisphosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=360509 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2203[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141539 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000507 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000507 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=360509 |http://www.geneclinics.org/query?mim=229700 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00710 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00030 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 DBL|UNIGENE:Hs.360509 |OMIM:229700 |SNP:2203 |UWCM:141539.html ENZ|EC:3.1.3.11 |fructose-2,6-bisphosphate 2-phosphatase activity ; GO:0004331 |hydrolase activity ; GO:0016787 |fructose-bisphosphatase activity ; GO:0042132 |phosphoric ester hydrolase activity ; GO:0042578 MAP|9q22.3 PHP|Fructose-bisphosphatase deficiency HG|species == Mouse; gene == Fbp1; score == 604; expect == 2e-173; MEOW:MGgn0004223 (84%) |species == rat; score == 528; expect == 1e-150; MEOW:ref|NP_446168.1| (75%) |species == Human; gene == FBP2; score == 508; expect == 2e-144; MEOW:HUgn0008789 (76%) |species == Mouse; gene == Fbp2; score == 508; expect == 1e-144; MEOW:MGgn0004222 (76%) |species == Worm; gene == fbp-1; score == 414; expect == 5e-116; MEOW:CEgn0030917 (62%) |species == Fruitfly; gene == fbp; score == 408; expect == 1e-114; MEOW:FBgn0032820 (64%) |species == Mosquito; gene == LOC16841; score == 406; expect == 1e-113; MEOW:AGgn0016841 (63%) |species == Weed; gene == At1g43670; score == 381; expect == 3e-106; MEOW:ATgn0003161 (59%) |species == rice; score == 374; expect == 6e-104; MEOW:gnl|TIGR|8350.m06078 (54%) |species == rice; score == 357; expect == 7.3e-99; MEOW:gnl|TIGR|8353.m03218 (53%) |species == Yeast; gene == FBP1; score == 295; expect == 2.5e-80; MEOW:SGgn0004369 (47%) |species == ecoli; score == 274; expect == 4.3e-74; MEOW:ref|NP_418653.1| (44%) } # EOR GENR { RETE|ID 1 HUgn0002204 CHR 1 19 DID 1 LocusLink:2204 MAP 1 19q13.2-q13.4 NAM 1 Fc fragment of IgA, receptor for ORG 1 Homo sapiens SYM 1 FCAR ID|HUgn0002204 DID|LocusLink:2204 ORG|Homo sapiens RSQ|REFSEQ:NM_002000 |REFSEQ:NM_133269 |REFSEQ:NM_133271 |REFSEQ:NM_133272 |REFSEQ:NM_133273 |REFSEQ:NM_133274 |REFSEQ:NM_133277 |REFSEQ:NM_133278 |REFSEQ:NM_133279 |REFSEQ:NM_133280 RPA|REFPROT:NP_001991 |REFPROT:NP_579803 |REFPROT:NP_579805 |REFPROT:NP_579806 |REFPROT:NP_579807 |REFPROT:NP_579808 |REFPROT:NP_579811 |REFPROT:NP_579812 |REFPROT:NP_579813 |REFPROT:NP_579814 DBA|XM:NM_002000 |XM:NM_133269 |XM:NM_133271 |XM:NM_133272 |XM:NM_133273 |XM:NM_133274 |XM:NM_133277 |XM:NM_133278 |XM:NM_133279 |XM:NM_133280 |NA:AB071192 |NA:AB071193 |NA:AF091543 |NA:AF091544 |NA:X87765 |NA:X87766 |NA:X87767 |NA:X87769 |NA:BC027953 |NA:D87853 |NA:D87854 |NA:D87855 |NA:D87856 |NA:D87857 |NA:D87858 |NA:D87859 |NA:D87860 |NA:D87861 |NA:D87862 |NA:S82919 |NA:U43677 |NA:U43774 |NA:U56236 |NA:U56237 |NA:X90753 |NA:X92558 |NA:X92559 |NA:X92560 |NA:X92561 |NA:X92562 PAC|XP:NP_001991 |XP:NP_579803 |XP:NP_579805 |XP:NP_579806 |XP:NP_579807 |XP:NP_579808 |XP:NP_579811 |XP:NP_579812 |XP:NP_579813 |XP:NP_579814 SYM|FCAR NAM|Fc fragment of IgA, receptor for SYN|CD89 FNC|Fc alpha receptor isoform a precursor |Fc alpha receptor isoform b precursor |Fc alpha receptor isoform c precursor |Fc alpha receptor isoform d |Fc alpha receptor isoform e |Fc alpha receptor isoform f |Fc alpha receptor isoform g |Fc alpha receptor isoform h |Fc alpha receptor isoform i precursor |Fc alpha receptor isoform j |immune response ; GO:0006955 REAB|This gene is a member of the immunoglobulin gene superfamily and encodes a receptor |for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on |the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, |and eosinophils, where it mediates immunologic responses to pathogens. It interacts |with IgA-opsonized targets and triggers several immunologic defense processes, including |phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of |the release of inflammatory mediators. Ten transcript variants encoding different |isoforms have been described for this gene. CHR|19 PRD|IgA Fc receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=193122 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2204[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127543 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002000 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002000 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_003.figgrp.4 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=193122 DBL|UNIGENE:Hs.193122 |OMIM:147045 |SNP:2204 |PROW:965996871 MAP|19q13.2-q13.4 ENZ|receptor activity ; GO:0004872 |receptor signaling protein activity ; GO:0005057 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Human; gene == GP6; score == 136; expect == 1.1e-32; MEOW:HUgn0051206 (38%) |species == Human; gene == LILRA2; score == 131; expect == 4.8e-31; MEOW:HUgn0011027 (39%) |species == chimp; score == 126; expect == 2.4e-31; MEOW:sp|Q8MJZ4|Q8MJZ4 (39%) |species == chimp; score == 125; expect == 5.3e-31; MEOW:sp|Q8MJZ5|Q8MJZ5 (39%) } # EOR GENR { RETE|ID 1 HUgn0002205 CHR 1 1 DID 1 LocusLink:2205 MAP 1 1q23 NAM 1 Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide ORG 1 Homo sapiens SYM 1 FCER1A ID|HUgn0002205 DID|LocusLink:2205 ORG|Homo sapiens RSQ|REFSEQ:NM_002001 RPA|REFPROT:NP_001992 DBA|XM:NM_002001 |NA:L14075 |NA:BC005912 |NA:BC015185 |NA:BC015195 |NA:J03605 |NA:X06948 |NA:none PAC|XP:NP_001992 SYM|FCER1A NAM|Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide SYN|FCE1A |FcERI FNC|Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide precursor |immune response ; GO:0006955 REAB|The IgE receptor plays a central role in allergic disease, coupling allergen and |mast cell to initiate the inflammatory and immediate hypersensitivity responses |that are characteristic of disorders such as hay fever and asthma. The allergic |response occurs when 2 or more high-affinity IgE receptors are crosslinked via IgE |molecules that in turn are bound to an allergen (antigen) molecule. A perturbation |occurs that brings about the release of histamine and proteases from the granules |in the cytoplasm of the mast cell and leads to the synthesis of prostaglandins and |leukotrienes--potent effectors of the hypersensitivity response. The IgE receptor |consists of 3 subunits: alpha, beta (MIM 147138), and gamma (MIM 147139); only the |alpha subunit is glycosylated.[supplied by OMIM] CHR|1 PRD|Fc-epsilon RI-alpha |Fc IgE receptor, alpha polypeptide |high affinity immunoglobulin epsilon receptor alpha-subunit |immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=897 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2205[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119902 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002001 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002001 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=897 DBL|UNIGENE:Hs.897 |OMIM:147140 |SNP:2205 MAP|1q23 ENZ|receptor activity ; GO:0004872 |receptor signaling protein activity ; GO:0005057 |IgE binding ; GO:0019863 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Fcer1a; score == 244; expect == 2.9e-65; MEOW:MGgn0004227 (51%) |species == rat; score == 234; expect == 4.5e-62; MEOW:ref|NP_036856.1| (49%) |species == Human; gene == FCGR3A; score == 164; expect == 4.4e-41; MEOW:HUgn0002214 (41%) |species == Human; gene == FCGR3B; score == 157; expect == 4.1e-39; MEOW:HUgn0002215 (40%) |species == Human; gene == FCGR1A; score == 148; expect == 3.2e-36; MEOW:HUgn0002209 (39%) |species == Human; gene == FCGR2C; score == 144; expect == 6.1e-35; MEOW:HUgn0009103 (37%) |species == Human; gene == FCGR2A; score == 138; expect == 3.3e-33; MEOW:HUgn0002212 (38%) |species == chimp; score == 138; expect == 5.2e-35; MEOW:sp|Q8SPV8|Q8SPV8 (37%) |species == Human; gene == FCGR2B; score == 137; expect == 5.7e-33; MEOW:HUgn0002213 (36%) } # EOR GENR { RETE|ID 1 HUgn0002206 CHR 1 11 DID 1 LocusLink:2206 MAP 1 11q13 NAM 1 membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) ORG 1 Homo sapiens SYM 1 MS4A2 ID|HUgn0002206 DID|LocusLink:2206 ORG|Homo sapiens RSQ|REFSEQ:NM_000139 RPA|REFPROT:NP_000130 DBA|XM:NM_000139 |NA:AB042033 |NA:M89796 |NA:D10583 |NA:X66187 |NA:none PAC|XP:NP_000130 SYM|MS4A2 NAM|membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) SYN|FCERI |MS4A1 |FCER1B FNC|membrane-spanning 4-domains, subfamily A, member 2 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |humoral immune response ; GO:0006959 |cell proliferation ; GO:0008283 REAB|The allergic response involves the binding of allergen to receptor-bound IgE followed |by cell activation and the release of mediators responsible for the manifestations |of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked |gamma chains, is found on the surface of mast cells and basophils. This gene encodes |the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning |4A gene family. Members of this nascent protein family are characterized by common |structural features and similar intron/exon splice boundaries and display unique |expression patterns among hematopoietic cells and nonlymphoid tissues. This family |member is localized to 11q12, among a cluster of family members. CHR|11 PRD|Fc IgE receptor, beta chain |Fc epsilon receptor I beta-chain |immunoglobulin E receptor, high affinity, beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386748 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2206[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132654 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000139 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000139 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA31109 DBL|UNIGENE:Hs.386748 |OMIM:147138 |SNP:2206 MAP|11q13 PHP|Asthma, atopic, susceptibility to ENZ|calcium channel activity ; GO:0005262 |receptor activity ; GO:0004872 |IgE binding ; GO:0019863 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Ms4a2; score == 268; expect == 1.4e-72; MEOW:MGgn0004228 (57%) |species == rat; score == 229; expect == 1.3e-60; MEOW:ref|NP_036977.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0002207 CHR 1 1 DID 1 LocusLink:2207 MAP 1 1q23 NAM 1 Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide ORG 1 Homo sapiens SYM 1 FCER1G ID|HUgn0002207 DID|LocusLink:2207 ORG|Homo sapiens RSQ|REFSEQ:NM_004106 RPA|REFPROT:NP_004097 DBA|XM:NM_004106 |NA:M33196 |NA:BC020763 |NA:BC033872 |NA:M33195 |NA:none PAC|XP:NP_004097 SYM|FCER1G NAM|Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide FNC|Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide precursor |cell surface receptor linked signal transduction ; GO:0007166 |immune response ; GO:0006955 REAB|The high affinity IgE receptor is a key molecule involved in allergic reactions. |It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains |are also subunits of other Fc receptors. CHR|1 PRD|immunoglobulin E receptor, high affinity, gamma chain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433300 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2207[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004106 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004106 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433300 DBL|UNIGENE:Hs.433300 |OMIM:147139 |SNP:2207 MAP|1q23 ENZ|receptor signaling protein activity ; GO:0005057 |transmembrane receptor activity ; GO:0004888 |IgE binding ; GO:0019863 CEL|integral to plasma membrane ; GO:0005887 } # EOR GENR { RETE|ID 1 HUgn0002208 CHR 1 19 DID 1 LocusLink:2208 MAP 1 19p13.3 NAM 1 Fc fragment of IgE, low affinity II, receptor for (CD23A) ORG 1 Homo sapiens SYM 1 FCER2 ID|HUgn0002208 DID|LocusLink:2208 ORG|Homo sapiens RSQ|REFSEQ:NM_002002 RPA|REFPROT:NP_001993 DBA|XM:NM_002002 |NA:BC014108 |NA:BC027879 |NA:M14766 |NA:M15059 |NA:X04772 |NA:none PAC|XP:NP_001993 SYM|FCER2 NAM|Fc fragment of IgE, low affinity II, receptor for (CD23A) SYN|CD23 |FCE2 |CD23A |IGEBF FNC|Fc fragment of IgE, low affinity II, receptor for (CD23A) |heterophilic cell adhesion ; GO:0007157 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1416 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2208[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118888 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002002 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002002 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1416 DBL|UNIGENE:Hs.1416 |OMIM:151445 |SNP:2208 |PROW:1267951442 MAP|19p13.3 ENZ|sugar binding ; GO:0005529 |integrin binding ; GO:0005178 |receptor activity ; GO:0004872 |receptor signaling protein activity ; GO:0005057 |IgE binding ; GO:0019863 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Fcer2a; score == 335; expect == 2.0e-92; MEOW:MGgn0004230 (54%) |species == rat; score == 322; expect == 1.7e-88; MEOW:ref|NP_598234.1| (55%) } # EOR GENR { RETE|ID 1 HUgn0002209 CHR 1 1 DID 1 LocusLink:2209 MAP 1 1q21.2-q21.3 NAM 1 Fc fragment of IgG, high affinity Ia, receptor for (CD64) ORG 1 Homo sapiens SYM 1 FCGR1A ID|HUgn0002209 DID|LocusLink:2209 ORG|Homo sapiens RSQ|REFSEQ:NM_000566 RPA|REFPROT:NP_000557 DBA|XM:NM_000566 |NA:M63830 |NA:M63831 |NA:M63832 |NA:M63833 |NA:M63834 |NA:M63835 |NA:BC032634 |NA:BC032860 |NA:L03418 |NA:X14355 |NA:X14356 PAC|XP:NP_000557 SYM|FCGR1A NAM|Fc fragment of IgG, high affinity Ia, receptor for (CD64) SYN|CD64 |FCRI |IGFR1 FNC|Fc fragment of IgG, high affinity Ia, receptor for (CD64) |phagocytosis, engulfment ; GO:0006911 |immune response ; GO:0006955 |signal transduction ; GO:0007165 CHR|1 PRD|Fc-gamma receptor I A1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77424 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2209[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000566 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000566 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77424 DBL|UNIGENE:Hs.77424 |OMIM:146760 |SNP:2209 |PROW:1336793022 |UWCM:135911.html MAP|1q21.2-q21.3 PHP|IgG receptor I, phagocytic, familial deficiency of |Fc gamma RI; receptor for the Fc domain of IgG, has a role in immune response; member of the immunoglobulin superfamily ENZ|receptor signaling protein activity ; GO:0005057 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Fcgr1; score == 484; expect == 3e-137; MEOW:MGgn0004231 (70%) |species == rat; score == 438; expect == 2e-123; MEOW:ref|XP_215643.2| (65%) |species == chimp; score == 171; expect == 1.5e-44; MEOW:sp|Q8SPV8|Q8SPV8 (47%) |species == Human; gene == FCGR3B; score == 170; expect == 1.3e-42; MEOW:HUgn0002215 (41%) |species == Human; gene == FCGR3A; score == 167; expect == 6.7e-42; MEOW:HUgn0002214 (40%) |species == Human; gene == FCGR2B; score == 163; expect == 1.6e-40; MEOW:HUgn0002213 (39%) |species == Human; gene == FCGR2C; score == 163; expect == 1.6e-40; MEOW:HUgn0009103 (39%) |species == Human; gene == FCGR2A; score == 160; expect == 1.4e-39; MEOW:HUgn0002212 (45%) |species == Human; gene == IRTA2; score == 157; expect == 2.1e-38; MEOW:HUgn0083416 (36%) |species == Human; gene == IRTA1; score == 156; expect == 2.6e-38; MEOW:HUgn0083417 (36%) |species == Human; gene == FREB; score == 154; expect == 5.5e-38; MEOW:HUgn0084824 (42%) |species == Human; gene == FCER1A; score == 148; expect == 3.2e-36; MEOW:HUgn0002205 (39%) |species == Human; gene == FCRH3; score == 143; expect == 3.0e-34; MEOW:HUgn0115352 (34%) } # EOR GENR { RETE|ID 1 HUgn0002210 CHR 1 1 DID 1 LocusLink:2210 MAP 1 1q21.1 NAM 1 Fc fragment of IgG, high affinity Ib, receptor for (CD64) ORG 1 Homo sapiens SYM 1 FCGR1B ID|HUgn0002210 DID|LocusLink:2210 ORG|Homo sapiens SYM|FCGR1B NAM|Fc fragment of IgG, high affinity Ib, receptor for (CD64) SYN|CD64 |IGFRB CHR|1 DBL|OMIM:601502 MAP|1q21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135923 } # EOR GENR { RETE|ID 1 HUgn0002211 CHR 1 1 DID 1 LocusLink:2211 MAP 1 1q21.1 NAM 1 Fc fragment of IgG, high affinity Ic, receptor for (CD64) ORG 1 Homo sapiens SYM 1 FCGR1C ID|HUgn0002211 DID|LocusLink:2211 ORG|Homo sapiens SYM|FCGR1C NAM|Fc fragment of IgG, high affinity Ic, receptor for (CD64) SYN|CD64 |IGFRC CHR|1 DBL|OMIM:601503 MAP|1q21.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135940 } # EOR GENR { RETE|ID 1 HUgn0002212 CHR 1 1 DID 1 LocusLink:2212 MAP 1 1q23 NAM 1 Fc fragment of IgG, low affinity IIa, receptor for (CD32) ORG 1 Homo sapiens SYM 1 FCGR2A ID|HUgn0002212 DID|LocusLink:2212 ORG|Homo sapiens RSQ|REFSEQ:NM_021642 RPA|REFPROT:NP_067674 DBA|XM:NM_021642 |NA:BC019931 |NA:BC020823 |NA:J03619 |NA:M28697 |NA:X62572 |NA:none PAC|XP:NP_067674 SYM|FCGR2A NAM|Fc fragment of IgG, low affinity IIa, receptor for (CD32) SYN|CD32 |FCG2 |FcGR |CDw32 |FCGR2 |IGFR2 |FCGR2A1 FNC|Fc fragment of IgG, low affinity IIa, receptor for (CD32) |immune response ; GO:0006955 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=352642 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2212[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119903 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021642 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021642 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28063 DBL|UNIGENE:Hs.352642 |OMIM:146790 |SNP:2212 MAP|1q23 PHP|Lupus nephritis, susceptibility to ENZ|receptor activity ; GO:0004872 |receptor signaling protein activity ; GO:0005057 |IgG binding ; GO:0019864 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == chimp; score == 545; expect == 3e-157; MEOW:sp|Q8SPV8|Q8SPV8 (97%) |species == Human; gene == FCGR2C; score == 377; expect == 3e-105; MEOW:HUgn0009103 (88%) |species == Human; gene == FCGR2B; score == 375; expect == 2e-104; MEOW:HUgn0002213 (90%) |species == Mouse; gene == Fcgr2b; score == 253; expect == 6.6e-68; MEOW:MGgn0004232 (51%) |species == Mouse; gene == Fcgr3; score == 235; expect == 1.6e-62; MEOW:MGgn0004233 (59%) |species == rat; score == 235; expect == 2.8e-62; MEOW:ref|XP_341153.1| (50%) |species == rat; score == 229; expect == 2.0e-60; MEOW:ref|NP_786932.1| (50%) |species == rat; score == 220; expect == 5.4e-58; MEOW:ref|NP_446295.2| (48%) } # EOR GENR { RETE|ID 1 HUgn0002213 CHR 1 1 DID 1 LocusLink:2213 MAP 1 1q23 NAM 1 Fc fragment of IgG, low affinity IIb, receptor for (CD32) ORG 1 Homo sapiens SYM 1 FCGR2B ID|HUgn0002213 DID|LocusLink:2213 ORG|Homo sapiens RSQ|REFSEQ:NM_004001 RPA|REFPROT:NP_003992 DBA|XM:NM_004001 |NA:AF543826 |NA:M28696 |NA:M31933 |NA:M31934 |NA:M31935 |NA:U87564 |NA:U87565 |NA:U90941 |NA:X52473 |NA:X62573 |NA:none PAC|XP:NP_003992 SYM|FCGR2B NAM|Fc fragment of IgG, low affinity IIb, receptor for (CD32) SYN|CD32 |FCG2 |FCGR2 |IGFR2 FNC|Fc fragment of IgG, low affinity IIb, receptor for (CD32) |cell growth and/or maintenance ; GO:0008151 |immune response ; GO:0006955 |signal transduction ; GO:0007165 CHR|1 PRD|Fc fragment of IgG, low affinity II, receptor for (CD32) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=126384 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2213[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128183 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004001 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004001 DBL|UNIGENE:Hs.126384 |OMIM:604590 |SNP:2213 MAP|1q23 PHP|Lymphoma, progression of ENZ|internalization receptor activity ; GO:0015029 |IgG binding ; GO:0019864 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Human; gene == FCGR2C; score == 585; expect == 8e-168; MEOW:HUgn0009103 (97%) |species == chimp; score == 377; expect == 1e-106; MEOW:sp|Q8SPV8|Q8SPV8 (89%) |species == Mouse; gene == Fcgr2b; score == 297; expect == 6.8e-81; MEOW:MGgn0004232 (56%) |species == rat; score == 268; expect == 3.6e-72; MEOW:ref|NP_786932.1| (53%) |species == rat; score == 223; expect == 1.1e-58; MEOW:ref|XP_341153.1| (51%) } # EOR GENR { RETE|ID 1 HUgn0002214 CHR 1 1 DID 1 LocusLink:2214 MAP 1 1q23 NAM 1 Fc fragment of IgG, low affinity IIIa, receptor for (CD16) ORG 1 Homo sapiens SYM 1 FCGR3A ID|HUgn0002214 DID|LocusLink:2214 ORG|Homo sapiens RSQ|REFSEQ:NM_000569 RPA|REFPROT:NP_000560 DBA|XM:NM_000569 |NA:Z46222 |NA:BC017865 |NA:BC033678 |NA:BC036723 |NA:S76824 |NA:X52645 |NA:none PAC|XP:NP_000560 SYM|FCGR3A NAM|Fc fragment of IgG, low affinity IIIa, receptor for (CD16) SYN|CD16 |FCG3 |FCGR3 |IGFR3 FNC|Fc fragment of IgG, low affinity IIIa, receptor for (CD16) |immune response ; GO:0006955 CHR|1 PRD|Fc fragment of IgG, low affinity III, receptor for (CD16) DBL|OMIM:146740 |SNP:2214 |UWCM:119904.html MAP|1q23 PHP|Lupus erythematosus, systemic, susceptibility |Neutropenia, alloimmune neonatal |Viral infections, recurrent URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2214[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119904 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000569 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000569 |http://www.geneclinics.org/query?mim=146740 ENZ|receptor activity ; GO:0004872 |IgG binding ; GO:0019864 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Human; gene == FCGR3B; score == 447; expect == 2e-126; MEOW:HUgn0002215 (97%) |species == Mouse; gene == Fcrl3; score == 323; expect == 4.1e-89; MEOW:MGgn0040513 (61%) |species == rat; score == 290; expect == 6.3e-79; MEOW:ref|XP_222878.1| (59%) |species == chimp; score == 169; expect == 2.4e-44; MEOW:sp|Q8SPV8|Q8SPV8 (42%) } # EOR GENR { RETE|ID 1 HUgn0002215 CHR 1 1 DID 1 LocusLink:2215 MAP 1 1q23 NAM 1 Fc fragment of IgG, low affinity IIIb, receptor for (CD16) ORG 1 Homo sapiens SYM 1 FCGR3B ID|HUgn0002215 DID|LocusLink:2215 ORG|Homo sapiens RSQ|REFSEQ:NM_000570 RPA|REFPROT:NP_000561 DBA|XM:NM_000570 |NA:Z46223 |NA:X16863 |NA:none PAC|XP:NP_000561 SYM|FCGR3B NAM|Fc fragment of IgG, low affinity IIIb, receptor for (CD16) SYN|CD16 |FCG3 |FCGR3 FNC|Fc fragment of IgG, low affinity IIIb, receptor for (CD16) |immune response ; GO:0006955 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=372679 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128176 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000570 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000570 DBL|UNIGENE:Hs.372679 |SNP:2215 MAP|1q23 ENZ|receptor activity ; GO:0004872 |IgG binding ; GO:0019864 HG|species == Human; gene == FCGR3A; score == 447; expect == 2e-126; MEOW:HUgn0002214 (97%) |species == Mouse; gene == Fcrl3; score == 293; expect == 7.7e-80; MEOW:MGgn0040513 (61%) |species == rat; score == 263; expect == 6.0e-71; MEOW:ref|XP_222878.1| (59%) |species == rat; score == 213; expect == 5.4e-56; MEOW:ref|XP_341153.1| (50%) |species == chimp; score == 172; expect == 2.9e-45; MEOW:sp|Q8SPV8|Q8SPV8 (48%) } # EOR GENR { RETE|ID 1 HUgn0002216 CHR 1 21 DID 1 LocusLink:2216 MAP 1 21q21.3 NAM 1 ferredoxin pseudogene 2 ORG 1 Homo sapiens SYM 1 FDXP2 ID|HUgn0002216 DID|LocusLink:2216 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M34789 SYM|FDXP2 NAM|ferredoxin pseudogene 2 CHR|21 PRD|adrenodoxin pseudogene MAP|21q21.3 DBL|SNP:2216 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128220 } # EOR GENR { RETE|ID 1 HUgn0002217 CHR 1 19 DID 1 LocusLink:2217 MAP 1 19q13.3 NAM 1 Fc fragment of IgG, receptor, transporter, alpha ORG 1 Homo sapiens SYM 1 FCGRT ID|HUgn0002217 DID|LocusLink:2217 ORG|Homo sapiens RSQ|REFSEQ:NM_004107 RPA|REFPROT:NP_004098 DBA|XM:NM_004107 |NA:AK074734 |NA:AK075510 |NA:AK075532 |NA:BC008734 |NA:BC020421 |NA:BT006828 |NA:BX647163 |NA:U12255 |NA:none PAC|XP:NP_004098 SYM|FCGRT NAM|Fc fragment of IgG, receptor, transporter, alpha SYN|FCRN FNC|Fc fragment of IgG, receptor, transporter, alpha |pregnancy ; GO:0007565 |immune response ; GO:0006955 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=111903 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2217[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:453287 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004107 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004107 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=111903 DBL|UNIGENE:Hs.111903 |OMIM:601437 |SNP:2217 MAP|19q13.3 ENZ|receptor activity ; GO:0004872 |IgG binding ; GO:0019864 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Fcgrt; score == 448; expect == 2e-126; MEOW:MGgn0004234 (66%) |species == rat; score == 442; expect == 1e-124; MEOW:ref|NP_203502.1| (65%) |species == Human; gene == MR1; score == 138; expect == 3.8e-33; MEOW:HUgn0003140 (29%) |species == chimp; score == 136; expect == 1.5e-32; MEOW:sp|Q9BCU4|Q9BCU4 (29%) |species == chimp; score == 132; expect == 4.4e-33; MEOW:sp|Q9BCU3|Q9BCU3 (29%) |species == chimp; score == 126; expect == 3.1e-31; MEOW:sp|Q9MXL5|Q9MXL5 (32%) } # EOR GENR { RETE|ID 1 HUgn0002218 CHR 1 9 DID 1 LocusLink:2218 MAP 1 9q31-q33 NAM 1 Fukuyama type congenital muscular dystrophy (fukutin) ORG 1 Homo sapiens SYM 1 FCMD ID|HUgn0002218 DID|LocusLink:2218 ORG|Homo sapiens RSQ|REFSEQ:NM_006731 RPA|REFPROT:NP_006722 DBA|XM:NM_006731 |NA:AB038490 |NA:AB008226 |NA:none PAC|XP:NP_006722 SYM|FCMD NAM|Fukuyama type congenital muscular dystrophy (fukutin) SYN|FKTN |fukutin FNC|fukutin |muscle development ; GO:0007517 |neurogenesis ; GO:0007399 REAB|The protein encoded by this gene regulates the migration and assembly of neurons |during cortical histogenesis. Fukuyama congenital muscular dystrophy results from |mutations in this gene. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=55777 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2218[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:250412 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006731 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006731 |http://www.dmd.nl DBL|UNIGENE:Hs.55777 |OMIM:607440 |SNP:2218 MAP|9q31-q33 PHP|Muscular dystrophy, Fukuyama congenital CEL|extracellular space ; GO:0005615 HG|species == rat; score == 859; expect == 0.0; MEOW:ref|XP_342839.1| (89%) |species == Mouse; gene == Fcmd; score == 856; expect == 0.0; MEOW:MGgn0040512 (89%) } # EOR GENR { RETE|ID 1 HUgn0002219 CHR 1 9 DID 1 LocusLink:2219 MAP 1 9q34 NAM 1 ficolin (collagen/fibrinogen domain containing) 1 ORG 1 Homo sapiens SYM 1 FCN1 ID|HUgn0002219 DID|LocusLink:2219 ORG|Homo sapiens RSQ|REFSEQ:NM_002003 RPA|REFPROT:NP_001994 DBA|XM:NM_002003 |NA:D63394 |NA:BC020635 |NA:D83920 |NA:S80990 PAC|XP:NP_001994 SYM|FCN1 NAM|ficolin (collagen/fibrinogen domain containing) 1 SYN|FCNM FNC|ficolin 1 precursor |opsinization ; GO:0008228 |antimicrobial humoral response (sensu Invertebrata) ; GO:0006960 REAB|The ficolin family of proteins are characterized by the presence of a leader peptide, |a short N-terminal segment, followed by a collagen-like region, and a C-terminal |fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also |found separately in other proteins such as complement protein C1q, C-type lectins |known as collectins, and tenascins. However, all these proteins recognize different |targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly |expressed in the peripheral blood leukocytes, and has been postulated to function |as a plasma protein with elastin-binding activity. CHR|9 PRD|ficolin (collagen/fibrinogen domain-containing) 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440898 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2219[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1386727 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002003 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002003 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440898 DBL|UNIGENE:Hs.440898 |OMIM:601252 |SNP:2219 MAP|9q34 ENZ|lectin ; GO:0005530 |opsonin activity ; GO:0008229 |plasma protein ; GO:0005209 |calcium ion binding ; GO:0005509 HG|species == rat; score == 531; expect == 1e-151; MEOW:ref|NP_446086.1| (76%) |species == Human; gene == FCN2; score == 492; expect == 1e-139; MEOW:HUgn0002220 (74%) |species == Mouse; gene == Fcna; score == 389; expect == 1e-108; MEOW:MGgn0004235 (61%) |species == Zfish; gene == tenc; score == 198; expect == 1.6e-52; MEOW:ZFgn0000002 (44%) |species == Mosquito; score == 196; expect == 7.0e-51; MEOW:AGgn0002335 (48%) |species == Mosquito; score == 190; expect == 3.3e-49; MEOW:AGgn0020316 (47%) |species == Mosquito; gene == LOC10235; score == 188; expect == 1.7e-48; MEOW:AGgn0010235 (43%) |species == Mosquito; score == 185; expect == 1.8e-47; MEOW:AGgn0021318 (45%) |species == Zfish; gene == angpt1; score == 180; expect == 1.5e-45; MEOW:ZFgn0002319 (43%) |species == Mosquito; gene == LOC20281; score == 179; expect == 1.0e-45; MEOW:AGgn0020281 (47%) |species == Mosquito; score == 177; expect == 3.0e-45; MEOW:AGgn0011252 (45%) |species == Zfish; gene == angpt2; score == 177; expect == 1.2e-44; MEOW:ZFgn0002320 (43%) |species == Mosquito; gene == LOC13811; score == 173; expect == 5.7e-44; MEOW:AGgn0013811 (48%) |species == Mosquito; score == 172; expect == 6.3e-44; MEOW:AGgn0016460 (47%) |species == Mosquito; gene == LOC25169; score == 172; expect == 1.3e-43; MEOW:AGgn0025169 (45%) |species == Mosquito; score == 172; expect == 1.4e-43; MEOW:AGgn0027566 (53%) |species == Zfish; gene == tenw; score == 171; expect == 2.3e-42; MEOW:ZFgn0000239 (46%) |species == Mosquito; gene == LOC8282; score == 165; expect == 5.3e-41; MEOW:AGgn0008282 (51%) |species == Mosquito; gene == LOC15680; score == 162; expect == 1.6e-40; MEOW:AGgn0015680 (47%) |species == Fruitfly; gene == CG30280; score == 162; expect == 1.4e-40; MEOW:FBgn0050280 (42%) |species == Fruitfly; gene == CG30281; score == 162; expect == 1.4e-40; MEOW:FBgn0050281 (42%) |species == Mosquito; gene == LOC11478; score == 161; expect == 1.7e-39; MEOW:AGgn0011478 (48%) |species == Mosquito; gene == LOC25020; score == 161; expect == 4.9e-40; MEOW:AGgn0025020 (44%) |species == Mosquito; score == 160; expect == 7.7e-40; MEOW:AGgn0015683 (42%) |species == Fruitfly; gene == CG8642; score == 154; expect == 2.9e-38; MEOW:FBgn0033312 (42%) |species == Fruitfly; gene == sca; score == 139; expect == 1.6e-33; MEOW:FBgn0003326 (39%) |species == Fruitfly; gene == CG9500; score == 139; expect == 1.2e-33; MEOW:FBgn0031804 (42%) |species == Fruitfly; gene == CG1791; score == 135; expect == 1.8e-32; MEOW:FBgn0030163 (42%) } # EOR GENR { RETE|ID 1 HUgn0002220 CHR 1 9 DID 1 LocusLink:2220 MAP 1 9q34 NAM 1 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ORG 1 Homo sapiens SYM 1 FCN2 ID|HUgn0002220 DID|LocusLink:2220 ORG|Homo sapiens RSQ|REFSEQ:NM_004108 |REFSEQ:NM_015837 |REFSEQ:NM_015838 |REFSEQ:NM_015839 RPA|REFPROT:NP_004099 |REFPROT:NP_056652 |REFPROT:NP_056653 |REFPROT:NP_056654 DBA|XM:NM_004108 |XM:NM_015837 |XM:NM_015838 |XM:NM_015839 |NA:D63158 |NA:D63160 |NA:D49353 |NA:none PAC|XP:NP_004099 |XP:NP_056652 |XP:NP_056653 |XP:NP_056654 SYM|FCN2 NAM|ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) SYN|P35 |FCNL |EBP-37 FNC|ficolin 2 isoform a precursor |ficolin 2 isoform b precursor |ficolin 2 isoform c precursor |ficolin 2 isoform d precursor |opsinization ; GO:0008228 |regulation of transcription, DNA-dependent ; GO:0006355 |heterophilic cell adhesion ; GO:0007157 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 REAB|The ficolin family of proteins are characterized by the presence of a leader peptide, |a short N-terminal segment, followed by a collagen-like region, and a C-terminal |fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also |found separately in other proteins such as complement protein C1q, C-type lectins |known as collectins, and tenascins. However, all these proteins recognize different |targets, and are functionally distinct. Ficolin 2 encoded by FCN2 is predominantly |expressed in the liver, and has been shown to have carbohydrate binding and opsonic |activities. Four transcript variants of FCN2 that arise by alternative splicing, |and encode different isoforms of ficolin 2, have been described. CHR|9 PRD|hucolin |ficolin (collagen/fibrinogen domain-containing lectin) 2 |ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54517 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2220[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1386730 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015839 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015839 DBL|UNIGENE:Hs.54517 |OMIM:601624 |SNP:2220 MAP|9q34 ENZ|sugar binding ; GO:0005529 |antigen binding ; GO:0003823 |calcium ion binding ; GO:0005509 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Human; gene == FCN1; score == 492; expect == 1e-139; MEOW:HUgn0002219 (74%) |species == rat; score == 470; expect == 4e-133; MEOW:ref|NP_446086.1| (70%) |species == Mouse; gene == Fcna; score == 379; expect == 2e-105; MEOW:MGgn0004235 (57%) |species == Zfish; gene == tenc; score == 204; expect == 1.5e-52; MEOW:ZFgn0000002 (45%) |species == Mosquito; score == 196; expect == 1.0e-50; MEOW:AGgn0020316 (49%) |species == Mosquito; score == 194; expect == 2.0e-50; MEOW:AGgn0002335 (48%) |species == Mosquito; gene == LOC10235; score == 191; expect == 1.9e-49; MEOW:AGgn0010235 (46%) |species == Zfish; gene == tenw; score == 190; expect == 3.7e-48; MEOW:ZFgn0000239 (49%) |species == Mosquito; score == 184; expect == 2.3e-47; MEOW:AGgn0021318 (46%) |species == Mosquito; gene == LOC20281; score == 180; expect == 4.3e-46; MEOW:AGgn0020281 (47%) |species == Mosquito; gene == LOC25169; score == 179; expect == 6.1e-46; MEOW:AGgn0025169 (46%) |species == Zfish; gene == angpt1; score == 176; expect == 7.9e-46; MEOW:ZFgn0002319 (45%) |species == Mosquito; score == 174; expect == 3.2e-44; MEOW:AGgn0011252 (52%) |species == Zfish; gene == angpt2; score == 173; expect == 6.7e-45; MEOW:ZFgn0002320 (44%) |species == Mosquito; gene == LOC13811; score == 172; expect == 1.2e-43; MEOW:AGgn0013811 (48%) |species == Mosquito; score == 172; expect == 8.3e-44; MEOW:AGgn0027566 (49%) |species == Mosquito; score == 171; expect == 1.4e-43; MEOW:AGgn0016460 (47%) |species == Mosquito; gene == LOC8282; score == 169; expect == 2.8e-42; MEOW:AGgn0008282 (51%) |species == Fruitfly; gene == CG30280; score == 168; expect == 2.4e-42; MEOW:FBgn0050280 (44%) |species == Fruitfly; gene == CG30281; score == 168; expect == 2.4e-42; MEOW:FBgn0050281 (44%) |species == Mosquito; score == 166; expect == 1.8e-41; MEOW:AGgn0015683 (43%) |species == Mosquito; gene == LOC25020; score == 160; expect == 8.4e-40; MEOW:AGgn0025020 (47%) |species == Mosquito; gene == LOC21297; score == 157; expect == 4.1e-39; MEOW:AGgn0021297 (43%) |species == Fruitfly; gene == CG8642; score == 154; expect == 4.6e-38; MEOW:FBgn0033312 (42%) |species == Fruitfly; gene == sca; score == 142; expect == 1.1e-34; MEOW:FBgn0003326 (42%) |species == Fruitfly; gene == CG9500; score == 141; expect == 2.7e-34; MEOW:FBgn0031804 (43%) |species == Fruitfly; gene == CG1791; score == 136; expect == 6.2e-33; MEOW:FBgn0030163 (42%) } # EOR GENR { RETE|ID 1 HUgn0002221 CHR 1 X DID 1 LocusLink:2221 MAP 1 Xp22.3-p22.2 NAM 1 F-cell production 1 ORG 1 Homo sapiens SYM 1 FCP1 ID|HUgn0002221 DID|LocusLink:2221 ORG|Homo sapiens SYM|FCP1 NAM|F-cell production 1 SYN|FCP |FCPX CHR|X DBL|OMIM:305435 MAP|Xp22.3-p22.2 PHP|Heterocellular hereditary persistence of fetal hemoglobin, Swiss type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:347490 } # EOR GENR { RETE|ID 1 HUgn0002222 CHR 1 8 DID 1 LocusLink:2222 MAP 1 8p23.1-p22 NAM 1 farnesyl-diphosphate farnesyltransferase 1 ORG 1 Homo sapiens SYM 1 FDFT1 ID|HUgn0002222 DID|LocusLink:2222 ORG|Homo sapiens RSQ|REFSEQ:NM_004462 RPA|REFPROT:NP_004453 DBA|XM:NM_004462 |NA:AK057726 |NA:AK098682 |NA:BC003573 |NA:BC009251 |NA:BC029641 |NA:BC034440 |NA:BT006704 |NA:L06070 |NA:L06105 |NA:S76822 |NA:X69141 |NA:none PAC|XP:NP_004453 SYM|FDFT1 NAM|farnesyl-diphosphate farnesyltransferase 1 SYN|DGPT FNC|farnesyl-diphosphate farnesyltransferase 1 |isoprenoid biosynthesis ; GO:0008299 |cholesterol biosynthesis ; GO:0006695 |steroid biosynthesis ; GO:0006694 CHR|8 PRD|Squalene synthase |Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=191435 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2222[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:203902 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004462 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004462 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=191435 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00900 DBL|UNIGENE:Hs.191435 |OMIM:184420 |SNP:2222 ENZ|EC:2.5.1.21 |magnesium ion binding ; GO:0000287 |farnesyl-diphosphate farnesyltransferase activity ; GO:0004310 |oxidoreductase activity ; GO:0016491 |transferase activity ; GO:0016740 MAP|8p23.1-p22 CEL|endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Fdft1; score == 756; expect == 0.0; MEOW:MGgn0004239 (88%) |species == rat; score == 742; expect == 0.0; MEOW:ref|NP_062111.1| (86%) |species == Weed; gene == SQS2; score == 321; expect == 4.2e-88; MEOW:ATgn0019272 (44%) |species == Weed; gene == SQS1; score == 320; expect == 6.9e-88; MEOW:ATgn0019270 (42%) |species == Yeast; gene == ERG9; score == 303; expect == 2.5e-83; MEOW:SGgn0001233 (48%) |species == rice; score == 257; expect == 2.1e-68; MEOW:gnl|TIGR|8360.m05315 (39%) } # EOR GENR { RETE|ID 1 HUgn0002224 CHR 1 1 DID 1 LocusLink:2224 MAP 1 1q22 NAM 1 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) ORG 1 Homo sapiens SYM 1 FDPS ID|HUgn0002224 DID|LocusLink:2224 ORG|Homo sapiens RSQ|REFSEQ:NM_002004 RPA|REFPROT:NP_001995 DBA|XM:NM_002004 |NA:AK021828 |NA:BC010004 |NA:D14697 |NA:J05262 |NA:M29863 PAC|XP:NP_001995 SYM|FDPS NAM|farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) SYN|FPS FNC|farnesyl diphosphate synthase |cholesterol biosynthesis ; GO:0006695 REAB|The isoprene biosynthetic pathway provides the cell with cholesterol, ubiquinone, |dolichol, and other nonsterol metabolites. Farnesylpyrophosphate synthetase (EC |2.5.1.10) catalyzes the formation of both geranyl and farnesylpyrophosphate from |isopentenylpyrophosphate and dimethylallyl pyrophosphate.[supplied by OMIM] CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=335918 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2224[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128629 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002004 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002004 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=335918 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00900 DBL|UNIGENE:Hs.335918 |OMIM:134629 |SNP:2224 ENZ|EC:2.5.1.1 |EC:2.5.1.10 MAP|1q22 HG|species == rat; score == 615; expect == 1e-176; MEOW:ref|NP_114028.1| (85%) |species == Mouse; gene == Fdps; score == 614; expect == 3e-176; MEOW:MGgn0004240 (84%) |species == rat; score == 562; expect == 1e-160; MEOW:ref|XP_228802.2| (78%) |species == Human; gene == LOC127184; score == 549; expect == 1e-156; MEOW:HUgn0127184 (79%) |species == Human; gene == LOC343332; score == 531; expect == 2e-151; MEOW:HUgn0343332 (81%) |species == Weed; gene == FPS2; score == 318; expect == 3.5e-87; MEOW:ATgn0018077 (47%) |species == Weed; gene == FPS1; score == 312; expect == 3.3e-85; MEOW:ATgn0026327 (45%) |species == Fruitfly; gene == Fpps; score == 306; expect == 1.1e-83; MEOW:FBgn0025373 (46%) |species == Yeast; gene == ERG20; score == 304; expect == 1.5e-83; MEOW:SGgn0003703 (45%) |species == rice; score == 295; expect == 2.1e-80; MEOW:gnl|TIGR|8350.m04697 (48%) |species == Mosquito; score == 291; expect == 2.6e-79; MEOW:AGgn0011119 (43%) |species == rice; score == 287; expect == 2.5e-77; MEOW:gnl|TIGR|8352.m05249 (42%) |species == Worm; gene == R06C1.2; score == 199; expect == 2.2e-51; MEOW:CEgn0014497 (35%) } # EOR GENR { RETE|ID 1 HUgn0002225 CHR 1 1 DID 1 LocusLink:2225 MAP 1 1q24-q31 NAM 1 farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) ORG 1 Homo sapiens SYM 1 FDPSL1 ID|HUgn0002225 DID|LocusLink:2225 ORG|Homo sapiens SYM|FDPSL1 NAM|farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) SYN|FPSL1 |CHR39A CHR|1 DBL|OMIM:134631 MAP|1q24-q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119918 } # EOR GENR { RETE|ID 1 HUgn0002226 CHR 1 7 DID 1 LocusLink:2226 MAP 1 7 NAM 1 farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2) ORG 1 Homo sapiens SYM 1 FDPSL2 ID|HUgn0002226 DID|LocusLink:2226 ORG|Homo sapiens SYM|FDPSL2 NAM|farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2) SYN|FPSL2 CHR|7 PRD|TCAG_1641456 DBL|OMIM:134632 MAP|7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119919 } # EOR GENR { RETE|ID 1 HUgn0002227 CHR 1 14 DID 1 LocusLink:2227 MAP 1 14 NAM 1 farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) ORG 1 Homo sapiens SYM 1 FDPSL3 ID|HUgn0002227 DID|LocusLink:2227 ORG|Homo sapiens SYM|FDPSL3 NAM|farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) SYN|FPSL3 CHR|14 DBL|OMIM:134633 MAP|14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119920 } # EOR GENR { RETE|ID 1 HUgn0002228 CHR 1 15 DID 1 LocusLink:2228 MAP 1 15q14-q21 NAM 1 farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4) ORG 1 Homo sapiens SYM 1 FDPSL4 ID|HUgn0002228 DID|LocusLink:2228 ORG|Homo sapiens SYM|FDPSL4 NAM|farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4) SYN|FPSL4 |CHR39B CHR|15 PRD|cholesterol-repressible protein 39B DBL|OMIM:118480 |OMIM:134634 MAP|15q14-q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119921 } # EOR GENR { RETE|ID 1 HUgn0002229 CHR 1 X DID 1 LocusLink:2229 MAP 1 Xq21-q22 NAM 1 farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) ORG 1 Homo sapiens SYM 1 FDPSL5 ID|HUgn0002229 DID|LocusLink:2229 ORG|Homo sapiens SYM|FDPSL5 NAM|farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) SYN|FPSL5 |CHR39C CHR|X PRD|cholesterol-repressible protein 39C DBL|OMIM:302920 |OMIM:305425 MAP|Xq21-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119922 } # EOR GENR { RETE|ID 1 HUgn0002230 CHR 1 11 DID 1 LocusLink:2230 MAP 1 11q22 NAM 1 ferredoxin 1 ORG 1 Homo sapiens SYM 1 FDX1 ID|HUgn0002230 DID|LocusLink:2230 ORG|Homo sapiens RSQ|REFSEQ:NM_004109 RPA|REFPROT:NP_004100 DBA|XM:NM_004109 |NA:M23665 |NA:M23668 |NA:M34785 |NA:M34786 |NA:BC010284 |NA:BC017063 |NA:BQ650029 |NA:J03548 |NA:M18003 |NA:M34788 |NA:none PAC|XP:NP_004100 SYM|FDX1 NAM|ferredoxin 1 SYN|ADX |FDX FNC|ferredoxin 1 precursor |vitamin metabolism ; GO:0006766 |steroid metabolism ; GO:0008202 |electron transport ; GO:0006118 |energy pathways ; GO:0006091 REAB|The product of this gene is a small iron-sulfur protein that transfers electrons |from NADPH through ferredoxin reductase to a terminal cytochrome P450. This particular |oxidation/reduction system is found in steroidogenic tissues, and is involved with |the synthesis of bile acid and vitamin D. In addition to the expressed gene at this |chromosomal locus (11q22), there are pseudogenes located on chromosomes 20 and 21. |This gene product has been identified in a number of different tissues but all forms |have been shown to be identical and are not tissue specific. CHR|11 PRD|adrenodoxin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=744 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2230[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119657 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004109 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004109 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=744 DBL|UNIGENE:Hs.744 |OMIM:103260 |SNP:2230 MAP|11q22 ENZ|adrenodoxin-type ferredoxin ; GO:0009493 |iron ion binding ; GO:0005506 |electron transporter activity ; GO:0005489 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 253; expect == 5.5e-68; MEOW:ref|NP_058822.1| (81%) |species == Mouse; gene == Fdx1; score == 252; expect == 9.4e-68; MEOW:MGgn0004250 (81%) |species == Fruitfly; gene == CG1319; score == 146; expect == 5.5e-36; MEOW:FBgn0035529 (62%) |species == Mosquito; score == 141; expect == 1.3e-34; MEOW:AGgn0014725 (60%) } # EOR GENR { RETE|ID 1 HUgn0002231 CHR 1 20 DID 1 LocusLink:2231 MAP 1 20cen-q13.1 NAM 1 ferredoxin pseudogene 1 ORG 1 Homo sapiens SYM 1 FDXP1 ID|HUgn0002231 DID|LocusLink:2231 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M34787 SYM|FDXP1 NAM|ferredoxin pseudogene 1 SYN|ADXP1 CHR|20 MAP|20cen-q13.1 DBL|SNP:2231 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119658 } # EOR GENR { RETE|ID 1 HUgn0002232 CHR 1 17 DID 1 LocusLink:2232 MAP 1 17q24-q25 NAM 1 ferredoxin reductase ORG 1 Homo sapiens SYM 1 FDXR ID|HUgn0002232 DID|LocusLink:2232 ORG|Homo sapiens RSQ|REFSEQ:NM_004110 |REFSEQ:NM_024417 RPA|REFPROT:NP_004101 |REFPROT:NP_077728 DBA|XM:NM_004110 |XM:NM_024417 |NA:M58508 |NA:M58509 |NA:AK094120 |NA:AK098648 |NA:BC002960 |NA:BC011521 |NA:BC018911 |NA:BC034763 |NA:BT006684 |NA:J03826 |NA:none PAC|XP:NP_004101 |XP:NP_077728 SYM|FDXR NAM|ferredoxin reductase SYN|ADXR FNC|ferredoxin reductase isoform 1 precursor |ferredoxin reductase isoform 2 precursor |electron transport ; GO:0006118 |steroid biosynthesis ; GO:0006694 |energy pathways ; GO:0006091 REAB|This gene encodes a mitochondrial flavoprotein that initiates electron transport |for cytochromes P450 receiving electrons from NADPH. Two alternatively spliced transcripts |for this gene exist. CHR|17 PRD|adrenodoxin reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=69745 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2232[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119659 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004110 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004110 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=69745 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28086 DBL|UNIGENE:Hs.69745 |OMIM:103270 |SNP:2232 ENZ|EC:1.18.1.2 |ferredoxin-NADP reductase activity ; GO:0004324 |oxidoreductase activity ; GO:0016491 MAP|17q24-q25 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Fdxr; score == 818; expect == 0.0; MEOW:MGgn0004251 (85%) |species == rat; score == 811; expect == 0.0; MEOW:ref|NP_077067.1| (85%) |species == Fruitfly; gene == dare; score == 382; expect == 2e-106; MEOW:FBgn0015582 (47%) |species == Mosquito; gene == LOC14217; score == 380; expect == 7e-106; MEOW:AGgn0014217 (47%) |species == Weed; gene == At4g32360; score == 365; expect == 4e-101; MEOW:ATgn0020781 (46%) |species == rice; score == 353; expect == 1.3e-97; MEOW:gnl|TIGR|8351.m01603 (44%) |species == Worm; gene == Y62E10A.6; score == 251; expect == 4.5e-67; MEOW:CEgn0019626 (36%) |species == Yeast; gene == ARH1; score == 223; expect == 1.5e-58; MEOW:SGgn0002784 (33%) } # EOR GENR { RETE|ID 1 HUgn0002233 CHR 1 8 DID 1 LocusLink:2233 MAP 1 8q13-8q21 NAM 1 febrile convulsions 1 ORG 1 Homo sapiens SYM 1 FEB1 ID|HUgn0002233 DID|LocusLink:2233 ORG|Homo sapiens SYM|FEB1 NAM|febrile convulsions 1 CHR|8 PRD|febrile convulsions 1febrile convulsions 1 DBL|OMIM:602476 MAP|8q13-8q21 PHP|Convulsions, familial febrile, 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9787383 |http://www.geneclinics.org/query?mim=602476 } # EOR GENR { RETE|ID 1 HUgn0002234 CHR 1 19 DID 1 LocusLink:2234 MAP 1 19p13.3 NAM 1 febrile convulsions 2 ORG 1 Homo sapiens SYM 1 FEB2 ID|HUgn0002234 DID|LocusLink:2234 ORG|Homo sapiens SYM|FEB2 NAM|febrile convulsions 2 CHR|19 DBL|OMIM:602477 MAP|19p13.3 PHP|Convulsions, familial febrile, 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9787381 |http://www.geneclinics.org/query?mim=602477 } # EOR GENR { RETE|ID 1 HUgn0002235 CHR 1 18 DID 1 LocusLink:2235 MAP 1 18q21.3 NAM 1 ferrochelatase (protoporphyria) ORG 1 Homo sapiens SYM 1 FECH ID|HUgn0002235 DID|LocusLink:2235 ORG|Homo sapiens RSQ|REFSEQ:NM_000140 RPA|REFPROT:NP_000131 DBA|XM:NM_000140 |NA:L36178 |NA:AK092416 |NA:BC039841 |NA:BX571744 |NA:D00726 |NA:none PAC|XP:NP_000131 SYM|FECH NAM|ferrochelatase (protoporphyria) SYN|EPP |FCE FNC|ferrochelatase |heme biosynthesis ; GO:0006783 |response to light ; GO:0009416 |energy pathways ; GO:0006091 REAB|Ferrochelatase is localized to the mitochondrion where it catalyzes the insertion |of ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Defects |in ferrochelatase are associated with protoporphyria. CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443610 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2235[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127282 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000140 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000140 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443610 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=2235 |http://www.geneclinics.org/query?mim=177000 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.443610 |OMIM:177000 |SNP:2235 ENZ|EC:4.99.1.1 |ferrochelatase activity ; GO:0004325 |ferrous iron binding ; GO:0008198 |lyase activity ; GO:0016829 MAP|18q21.3 PHP|Protoporphyria, erythropoietic |Protoporphyria, erythropoietic, recessive, with liver failure CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Fech; score == 712; expect == 0.0; MEOW:MGgn0004253 (88%) |species == rat; score == 619; expect == 2e-177; MEOW:ref|XP_341623.1| (92%) |species == Zfish; gene == fech; score == 618; expect == 2e-177; MEOW:ZFgn0000975 (80%) |species == Mosquito; gene == LOC15226; score == 426; expect == 8e-120; MEOW:AGgn0015226 (56%) |species == Fruitfly; gene == ferrochelatase; score == 426; expect == 1e-119; MEOW:FBgn0024891 (55%) |species == Yeast; gene == HEM15; score == 353; expect == 9.2e-98; MEOW:SGgn0005702 (51%) |species == Weed; gene == At2g30390; score == 249; expect == 2.6e-66; MEOW:ATgn0007881 (43%) |species == rice; score == 237; expect == 1.2e-62; MEOW:gnl|TIGR|8353.m02548 (43%) |species == Weed; gene == At5g26030; score == 233; expect == 1.3e-61; MEOW:ATgn0024359 (41%) } # EOR GENR { RETE|ID 1 HUgn0002236 CHR 1 3 DID 1 LocusLink:2236 MAP 1 3p23-p22 NAM 1 ferrochelatase pseudogene ORG 1 Homo sapiens SYM 1 FECHP ID|HUgn0002236 DID|LocusLink:2236 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X69299 SYM|FECHP NAM|ferrochelatase pseudogene CHR|3 MAP|3p23-p22 DBL|SNP:2236 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:351050 } # EOR GENR { RETE|ID 1 HUgn0002237 CHR 1 11 DID 1 LocusLink:2237 MAP 1 11q12 NAM 1 flap structure-specific endonuclease 1 ORG 1 Homo sapiens SYM 1 FEN1 ID|HUgn0002237 DID|LocusLink:2237 ORG|Homo sapiens RSQ|REFSEQ:NM_004111 RPA|REFPROT:NP_004102 DBA|XM:NM_004111 |NA:AC004770 |NA:U73629 |NA:BC000323 |NA:L37374 |NA:X76771 |NA:none PAC|XP:NP_004102 SYM|FEN1 NAM|flap structure-specific endonuclease 1 SYN|MF1 |RAD2 |FEN-1 FNC|flap structure-specific endonuclease 1 |UV protection ; GO:0009650 |DNA replication ; GO:0006260 |double-strand break repair ; GO:0006302 REAB|The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes |the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical |interaction between this protein and AP endonuclease 1 during long-patch base excision |repair provides coordinated loading of the proteins onto the substrate, thus passing |the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 |endonuclease family and is one of ten proteins essential for cell-free DNA replication. |DNA secondary structure can inhibit flap processing at certain trinucleotide repeats |in a length-dependent manner by concealing the 5' end of the flap that is necessary |for both binding and cleavage by the protein encoded by this gene. Therefore, secondary |structure can deter the protective function of this protein, leading to site-specific |trinucleotide expansions. CHR|11 PRD|DNase IV |maturation factor-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409065 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2237[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:451178 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004111 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004111 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=409065 DBL|UNIGENE:Hs.409065 |OMIM:600393 |SNP:2237 MAP|11q12 ENZ|double-stranded DNA specific exodeoxyribonuclease activity ; GO:0008309 |exonuclease activity ; GO:0004527 |damaged DNA binding ; GO:0003684 |double-stranded DNA binding ; GO:0003690 |endonuclease activity ; GO:0004519 |hydrolase activity ; GO:0016787 CEL|nucleus ; GO:0005634 HG|species == rat; score == 657; expect == 0.0; MEOW:ref|NP_445882.1| (96%) |species == Mouse; gene == Fen1; score == 643; expect == 0.0; MEOW:MGgn0004258 (96%) |species == Mosquito; gene == LOC14920; score == 479; expect == 1e-135; MEOW:AGgn0014920 (63%) |species == Fruitfly; gene == Fen1; score == 455; expect == 1e-128; MEOW:FBgn0025832 (63%) |species == Yeast; gene == RAD27; score == 405; expect == 3e-113; MEOW:SGgn0001596 (60%) |species == Weed; gene == At5g26680; score == 399; expect == 2e-111; MEOW:ATgn0024876 (53%) |species == rice; score == 246; expect == 5.9e-65; MEOW:gnl|TIGR|8360.m05586 (50%) |species == rice; score == 199; expect == 4.2e-51; MEOW:gnl|TIGR|8353.m04121 (44%) |species == Human; gene == LOC284696; score == 186; expect == 2.2e-48; MEOW:HUgn0284696 (90%) } # EOR GENR { RETE|ID 1 HUgn0002238 CHR 1 1 DID 1 LocusLink:2238 MAP 1 1p22.2 NAM 1 flap endonuclease-like 1 ORG 1 Homo sapiens SYM 1 FENL1 ID|HUgn0002238 DID|LocusLink:2238 ORG|Homo sapiens SYM|FENL1 NAM|flap endonuclease-like 1 CHR|1 MAP|1p22.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:553283 } # EOR GENR { RETE|ID 1 HUgn0002239 CHR 1 X DID 1 LocusLink:2239 MAP 1 Xq26.1 NAM 1 glypican 4 ORG 1 Homo sapiens SYM 1 GPC4 ID|HUgn0002239 DID|LocusLink:2239 ORG|Homo sapiens RSQ|REFSEQ:NM_001448 RPA|REFPROT:NP_001439 DBA|XM:NM_001448 |NA:AF030186 |NA:AF064826 |NA:AY052833 |NA:BC017166 |NA:none PAC|XP:NP_001439 SYM|GPC4 NAM|glypican 4 FNC|glypican 4 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 |cell proliferation ; GO:0008283 REAB|Cell surface heparan sulfate proteoglycans are composed of a membrane-associated |protein core substituted with a variable number of heparan sulfate chains. Members |of the glypican-related integral membrane proteoglycan family (GRIPS) contain a |core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol |linkage. These proteins may play a role in the control of cell division and growth |regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a |role in Simpson-Golabi-Behmel syndrome. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=58367 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2239[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3770727 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001448 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001448 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=58367 DBL|UNIGENE:Hs.58367 |OMIM:300168 |SNP:2239 MAP|Xq26.1 ENZ|transmembrane receptor activity ; GO:0004888 CEL|membrane ; GO:0016020 |proteoglycan integral to plasma membrane ; GO:0005888 |extracellular matrix ; GO:0005578 HG|species == Mouse; gene == Gpc4; score == 998; expect == 0.0; MEOW:MGgn0004866 (94%) |species == rat; score == 933; expect == 0.0; MEOW:ref|XP_228677.2| (91%) |species == Human; gene == GPC6; score == 689; expect == 0.0; MEOW:HUgn0010082 (65%) |species == Zfish; gene == kny; score == 594; expect == 4e-170; MEOW:ZFgn0002341 (60%) |species == Fruitfly; gene == dlp; score == 286; expect == 4.0e-77; MEOW:FBgn0041604 (40%) |species == Mosquito; gene == LOC10459; score == 275; expect == 2.1e-74; MEOW:AGgn0010459 (44%) } # EOR GENR { RETE|ID 1 HUgn0002240 CHR 1 12 DID 1 LocusLink:2240 MAP 1 12p11.2-q12 NAM 1 fibrosis of the extraocular muscles, congenital, 1 ORG 1 Homo sapiens SYM 1 FEOM1 ID|HUgn0002240 DID|LocusLink:2240 ORG|Homo sapiens SYM|FEOM1 NAM|fibrosis of the extraocular muscles, congenital, 1 SYN|FEOM |CFEOM |CFEOM1 CHR|12 PRD|Fibrosis of extraocular muscles, congenital, 1, autosomal dominant DBL|OMIM:135700 MAP|12p11.2-q12 PHP|Fibrosis of extraocular muscles, congenital, 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:345037 |http://www.geneclinics.org/query?mim=135700 } # EOR GENR { RETE|ID 1 HUgn0002241 CHR 1 5 DID 1 LocusLink:2241 MAP 1 5q21 NAM 1 fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) ORG 1 Homo sapiens SYM 1 FER ID|HUgn0002241 DID|LocusLink:2241 ORG|Homo sapiens RSQ|REFSEQ:NM_005246 RPA|REFPROT:NP_005237 DBA|XM:NM_005246 |NA:J03358 |NA:none PAC|XP:NP_005237 SYM|FER NAM|fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) SYN|TYK3 FNC|fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 REAB|Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine |kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface |to the cytoskeleton via growth factor receptors. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121558 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2241[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125243 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005246 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005246 DBL|UNIGENE:Hs.121558 |OMIM:176942 |SNP:2241 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|5q21 CEL|nucleus ; GO:0005634 HG|species == Human; gene == FES; score == 781; expect == 0.0; MEOW:HUgn0002242 (50%) |species == Mouse; gene == Fert2; score == 771; expect == 0.0; MEOW:MGgn0004260 (90%) |species == rat; score == 739; expect == 0.0; MEOW:ref|XP_346083.1| (68%) |species == Fruitfly; gene == Fps85D; score == 523; expect == 1e-148; MEOW:FBgn0000723 (37%) |species == Mosquito; gene == LOC20257; score == 413; expect == 1e-115; MEOW:AGgn0020257 (55%) |species == Worm; gene == abl-1; score == 271; expect == 9.8e-73; MEOW:CEgn0000002 (39%) |species == Worm; gene == kin-14; score == 265; expect == 7.0e-71; MEOW:CEgn0001053 (38%) |species == Zfish; gene == itk; score == 259; expect == 2.2e-70; MEOW:ZFgn0000238 (38%) |species == Worm; gene == ZK622.1; score == 255; expect == 2.8e-68; MEOW:CEgn0021057 (38%) |species == Worm; gene == src-2; score == 249; expect == 4.0e-66; MEOW:CEgn0026958 (38%) |species == Worm; gene == C35E7.10a; score == 238; expect == 3.7e-63; MEOW:CEgn0006078 (37%) |species == Worm; gene == C55C3.4; score == 238; expect == 3.7e-63; MEOW:CEgn0007185 (37%) |species == Zfish; gene == ptk2; score == 235; expect == 1.1e-61; MEOW:ZFgn0002424 (41%) |species == Worm; gene == C25A8.5; score == 233; expect == 1.9e-61; MEOW:CEgn0005327 (37%) |species == Worm; gene == F26E4.5; score == 228; expect == 5.6e-60; MEOW:CEgn0009376 (37%) |species == Worm; gene == F57B9.8; score == 225; expect == 4.4e-59; MEOW:CEgn0012208 (36%) |species == Worm; gene == kin-26; score == 223; expect == 1.2e-58; MEOW:CEgn0001063 (34%) |species == Worm; gene == F23C8.7; score == 223; expect == 2.0e-58; MEOW:CEgn0009171 (36%) |species == Worm; gene == kin-31; score == 218; expect == 5.3e-57; MEOW:CEgn0030552 (34%) |species == Zfish; gene == rtk4; score == 216; expect == 2.1e-57; MEOW:ZFgn0000378 (44%) |species == Zfish; gene == ret1; score == 214; expect == 6.1e-57; MEOW:ZFgn0000090 (39%) |species == Zfish; gene == ek1; score == 213; expect == 1.8e-56; MEOW:ZFgn0000466 (42%) |species == Zfish; gene == ek2; score == 213; expect == 2.3e-56; MEOW:ZFgn0000467 (44%) |species == Zfish; gene == ek3; score == 213; expect == 2.3e-56; MEOW:ZFgn0000468 (43%) |species == Weed; gene == At4g38470; score == 169; expect == 5.9e-42; MEOW:ATgn0020261 (34%) |species == rice; score == 169; expect == 1.7e-41; MEOW:gnl|TIGR|8352.m05524 (36%) |species == chimp; score == 168; expect == 2.3e-43; MEOW:sp|BAC78172|BAC78172 (34%) |species == rice; score == 167; expect == 3.8e-41; MEOW:gnl|TIGR|8357.m03093 (33%) |species == Weed; gene == At2g24360; score == 164; expect == 1.9e-40; MEOW:ATgn0008622 (37%) |species == rice; score == 161; expect == 1.5e-39; MEOW:gnl|TIGR|8359.m00564 (32%) |species == rice; score == 160; expect == 1.3e-39; MEOW:gnl|TIGR|8354.m04232 (36%) |species == Weed; gene == At4g35780; score == 157; expect == 2.3e-38; MEOW:ATgn0017130 (32%) |species == Weed; gene == At4g31170; score == 157; expect == 1.8e-38; MEOW:ATgn0018674 (35%) |species == rice; score == 157; expect == 6.7e-38; MEOW:gnl|TIGR|8352.m04814 (36%) |species == Weed; gene == At2g17700; score == 156; expect == 6.7e-38; MEOW:ATgn0028393 (32%) |species == rice; score == 155; expect == 2.5e-37; MEOW:gnl|TIGR|8351.m00694 (36%) |species == rice; score == 151; expect == 2.8e-36; MEOW:gnl|TIGR|8356.m01204 (33%) |species == rice; score == 150; expect == 8.2e-36; MEOW:gnl|TIGR|8353.m03928 (32%) |species == Weed; gene == At1g73660; score == 147; expect == 3.1e-35; MEOW:ATgn0006971 (33%) |species == rice; score == 146; expect == 1.2e-34; MEOW:gnl|TIGR|8351.m04858 (31%) |species == Weed; gene == At3g01490; score == 145; expect == 1.2e-34; MEOW:ATgn0012063 (29%) |species == rice; score == 145; expect == 2.0e-34; MEOW:gnl|TIGR|8360.m00536 (31%) |species == Weed; gene == At1g18160; score == 144; expect == 2.7e-34; MEOW:ATgn0006749 (32%) |species == Weed; gene == At5g11850; score == 144; expect == 2.0e-34; MEOW:ATgn0025217 (31%) |species == Weed; gene == At1g67890; score == 143; expect == 3.5e-34; MEOW:ATgn0006424 (33%) |species == Weed; gene == At3g50730; score == 143; expect == 1.7e-34; MEOW:ATgn0016552 (32%) |species == rice; score == 142; expect == 4.0e-34; MEOW:gnl|TIGR|8353.m04475 (29%) |species == Weed; gene == At5g50000; score == 141; expect == 6.9e-34; MEOW:ATgn0023588 (30%) |species == rice; score == 140; expect == 1.2e-33; MEOW:gnl|TIGR|8350.m04150 (30%) } # EOR GENR { RETE|ID 1 HUgn0002242 CHR 1 15 DID 1 LocusLink:2242 MAP 1 15q26.1 NAM 1 feline sarcoma oncogene ORG 1 Homo sapiens SYM 1 FES ID|HUgn0002242 DID|LocusLink:2242 ORG|Homo sapiens RSQ|REFSEQ:NM_002005 RPA|REFPROT:NP_001996 DBA|XM:NM_002005 |NA:X06292 |NA:BC035357 |NA:X52192 |NA:none PAC|XP:NP_001996 SYM|FES NAM|feline sarcoma oncogene SYN|FPS FNC|V-FES feline sarcoma viral/V-FPS fujinami avian sarcoma viral oncogene homolog |protein amino acid phosphorylation ; GO:0006468 |development ; GO:0007275 |intracellular signaling cascade ; GO:0007242 |cell proliferation ; GO:0008283 REAB|This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein |with transforming capabilities. The gene product has tyrosine-specific protein kinase |activity and that activity is required for maintenance of cellular transformation. |Its chromosomal location has linked it to a specific translocation event identified |in patients with acute promyelocytic leukemia but it is also involved in normal |hematopoiesis. A truncated transcript has been identified that is generated utilizing |a start site in one of the far downstream exons but a protein product associated |with this transcript has not been identified. CHR|15 PRD|Oncogene FES, feline sarcoma virus |feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7636 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2242[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119906 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002005 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002005 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7636 DBL|UNIGENE:Hs.7636 |OMIM:190030 |SNP:2242 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|15q26.1 HG|species == Human; gene == FER; score == 781; expect == 0.0; MEOW:HUgn0002241 (50%) |species == rat; score == 696; expect == 0.0; MEOW:ref|XP_341877.1| (78%) |species == Fruitfly; gene == Fps85D; score == 503; expect == 2e-142; MEOW:FBgn0000723 (36%) |species == Mouse; gene == Fert2; score == 497; expect == 6e-141; MEOW:MGgn0004260 (62%) |species == Mosquito; gene == LOC20257; score == 417; expect == 2e-116; MEOW:AGgn0020257 (54%) |species == Worm; gene == abl-1; score == 257; expect == 1.5e-68; MEOW:CEgn0000002 (37%) |species == Worm; gene == kin-14; score == 246; expect == 1.3e-65; MEOW:CEgn0001053 (36%) |species == Zfish; gene == itk; score == 245; expect == 3.3e-66; MEOW:ZFgn0000238 (36%) |species == Worm; gene == src-2; score == 241; expect == 8.3e-64; MEOW:CEgn0026958 (37%) |species == Worm; gene == ZK622.1; score == 237; expect == 1.2e-62; MEOW:CEgn0021057 (36%) |species == Worm; gene == C25A8.5; score == 221; expect == 4.5e-58; MEOW:CEgn0005327 (34%) |species == Worm; gene == F23C8.7; score == 221; expect == 4.5e-58; MEOW:CEgn0009171 (34%) |species == Zfish; gene == igf1rb; score == 219; expect == 1.9e-58; MEOW:ZFgn0002591 (39%) |species == Zfish; gene == ltk; score == 217; expect == 9.5e-58; MEOW:ZFgn0013982 (44%) |species == Zfish; gene == rtk4; score == 214; expect == 8.0e-57; MEOW:ZFgn0000378 (41%) |species == Worm; gene == C55C3.4; score == 212; expect == 2.8e-55; MEOW:CEgn0007185 (34%) |species == Worm; gene == ZC581.7; score == 212; expect == 2.5e-55; MEOW:CEgn0020739 (34%) |species == Worm; gene == C35E7.10a; score == 211; expect == 4.8e-55; MEOW:CEgn0006078 (33%) |species == Zfish; gene == ek1; score == 210; expect == 1.2e-55; MEOW:ZFgn0000466 (43%) |species == Zfish; gene == ek2; score == 209; expect == 2.6e-55; MEOW:ZFgn0000467 (42%) |species == Zfish; gene == ptk2; score == 205; expect == 3.7e-54; MEOW:ZFgn0002424 (39%) |species == Zfish; gene == ek3; score == 204; expect == 8.3e-54; MEOW:ZFgn0000468 (42%) |species == Zfish; gene == rtk6; score == 199; expect == 2.0e-52; MEOW:ZFgn0000380 (42%) |species == Zfish; gene == fgfr1; score == 196; expect == 3.0e-51; MEOW:ZFgn0000064 (36%) |species == chimp; score == 165; expect == 1.5e-42; MEOW:sp|BAC78172|BAC78172 (34%) |species == Weed; gene == At4g38470; score == 163; expect == 3.2e-40; MEOW:ATgn0020261 (34%) |species == rice; score == 161; expect == 4.6e-39; MEOW:gnl|TIGR|8357.m03093 (33%) |species == Weed; gene == At4g35780; score == 149; expect == 6.3e-36; MEOW:ATgn0017130 (31%) |species == Weed; gene == At2g17700; score == 149; expect == 6.3e-36; MEOW:ATgn0028393 (32%) |species == Weed; gene == At3g50730; score == 145; expect == 1.2e-34; MEOW:ATgn0016552 (34%) |species == rice; score == 144; expect == 4.5e-34; MEOW:gnl|TIGR|8350.m05058 (32%) |species == rice; score == 144; expect == 3.4e-34; MEOW:gnl|TIGR|8352.m05524 (35%) |species == rice; score == 143; expect == 1.0e-33; MEOW:gnl|TIGR|8353.m03928 (31%) |species == Weed; gene == At1g67890; score == 141; expect == 2.2e-33; MEOW:ATgn0006424 (33%) |species == Weed; gene == At2g24360; score == 141; expect == 1.7e-33; MEOW:ATgn0008622 (31%) |species == Weed; gene == At5g49470; score == 141; expect == 1.7e-33; MEOW:ATgn0022825 (33%) |species == rice; score == 141; expect == 3.8e-33; MEOW:gnl|TIGR|8355.m02702 (30%) |species == rice; score == 139; expect == 1.9e-32; MEOW:gnl|TIGR|8351.m00694 (31%) |species == rice; score == 139; expect == 1.4e-32; MEOW:gnl|TIGR|8354.m04232 (31%) |species == rice; score == 139; expect == 1.1e-32; MEOW:gnl|TIGR|8359.m00564 (31%) |species == Weed; gene == At5g03730; score == 138; expect == 1.5e-32; MEOW:ATgn0024018 (37%) |species == Weed; gene == At4g31170; score == 137; expect == 2.5e-32; MEOW:ATgn0018674 (30%) |species == Weed; gene == At1g62400; score == 136; expect == 5.5e-32; MEOW:ATgn0006564 (32%) |species == rice; score == 136; expect == 1.2e-31; MEOW:gnl|TIGR|8352.m04814 (30%) |species == rice; score == 136; expect == 1.2e-31; MEOW:gnl|TIGR|8360.m03494 (31%) |species == Weed; gene == At5g50000; score == 134; expect == 6.5e-32; MEOW:ATgn0023588 (29%) |species == Weed; gene == At3g50720; score == 132; expect == 4.1e-31; MEOW:ATgn0016550 (34%) } # EOR GENR { RETE|ID 1 HUgn0002243 CHR 1 4 DID 1 LocusLink:2243 MAP 1 4q28 NAM 1 fibrinogen, A alpha polypeptide ORG 1 Homo sapiens SYM 1 FGA ID|HUgn0002243 DID|LocusLink:2243 ORG|Homo sapiens RSQ|REFSEQ:NM_000508 |REFSEQ:NM_021871 RPA|REFPROT:NP_000499 |REFPROT:NP_068657 DBA|XM:NM_000508 |XM:NM_021871 |NA:M58569 |NA:M64982 |NA:S82092 |NA:BC020764 |NA:J00127 |NA:J00128 |NA:K02272 |NA:M26878 PAC|XP:NP_000499 |XP:NP_068657 SYM|FGA NAM|fibrinogen, A alpha polypeptide FNC|fibrinogen, alpha chain isoform alpha preproprotein |fibrinogen, alpha chain isoform alpha-E preproprotein |regulation of blood pressure ; GO:0008217 |positive regulation of cell proliferation ; GO:0008284 |blood coagulation ; GO:0007596 REAB|The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne |glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following |vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most |abundant component of blood clots. In addition, various cleavage products of fibrinogen |and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic |activities, and are mitogens for several cell types. Mutations in this gene lead |to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia |and renal amyloidosis. Alternative splicing results in two isoforms which vary in |the carboxy-terminus. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=351593 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2243[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119129 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000508 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000508 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=351593 DBL|UNIGENE:Hs.351593 |OMIM:134820 |SNP:2243 |UWCM:119129.html MAP|4q28 PHP|Afibrinogenemia |Amyloidosis, hereditary renal |Dysfibrinogenemia, alpha type, causing bleeding diathesis |Dysfibrinogenemia, alpha type, causing recurrent thrombosis ENZ|fibrinogen ; GO:0008001 |cell adhesion molecule activity ; GO:0005194 CEL|fibrinogen alpha chain ; GO:0005972 |soluble fraction ; GO:0005625 HG|species == rat; score == 983; expect == 0.0; MEOW:ref|XP_342268.1| (66%) |species == Mouse; gene == Fga; score == 548; expect == 3e-156; MEOW:MGgn0004263 (55%) |species == Human; gene == FGB; score == 207; expect == 1.4e-53; MEOW:HUgn0002244 (39%) |species == Human; gene == FGG; score == 203; expect == 3.9e-52; MEOW:HUgn0002266 (42%) |species == Human; gene == FGL1; score == 203; expect == 3.0e-52; MEOW:HUgn0002267 (43%) |species == Human; gene == ANGPTL2; score == 197; expect == 2.1e-50; MEOW:HUgn0023452 (42%) |species == Human; gene == ANGPTL1; score == 196; expect == 2.5e-50; MEOW:HUgn0009068 (40%) |species == Human; gene == ANGPT4; score == 185; expect == 1.1e-46; MEOW:HUgn0051378 (43%) |species == Human; gene == CDT6; score == 181; expect == 1.6e-45; MEOW:HUgn0010218 (40%) |species == Human; gene == ANGPTL6; score == 181; expect == 1.0e-45; MEOW:HUgn0083854 (41%) |species == Mosquito; score == 177; expect == 2.9e-45; MEOW:AGgn0021318 (43%) |species == Human; gene == ANGPT2; score == 174; expect == 1.0e-43; MEOW:HUgn0000285 (39%) |species == Human; gene == FLJ14810; score == 174; expect == 1.5e-43; MEOW:HUgn0084929 (42%) |species == Zfish; gene == angpt2; score == 169; expect == 3.1e-43; MEOW:ZFgn0002320 (38%) |species == Zfish; gene == angpt1; score == 167; expect == 9.1e-43; MEOW:ZFgn0002319 (39%) |species == Mosquito; score == 166; expect == 3.8e-41; MEOW:AGgn0002335 (41%) |species == Mosquito; score == 164; expect == 1.1e-40; MEOW:AGgn0011252 (38%) |species == Mosquito; score == 160; expect == 2.1e-39; MEOW:AGgn0020316 (43%) |species == Fruitfly; gene == CG30280; score == 156; expect == 3.2e-38; MEOW:FBgn0050280 (41%) |species == Fruitfly; gene == CG30281; score == 156; expect == 3.2e-38; MEOW:FBgn0050281 (41%) |species == Mosquito; gene == LOC10235; score == 152; expect == 4.4e-37; MEOW:AGgn0010235 (38%) |species == Mosquito; gene == LOC15680; score == 150; expect == 2.2e-36; MEOW:AGgn0015680 (35%) |species == Mosquito; gene == LOC25169; score == 150; expect == 2.2e-36; MEOW:AGgn0025169 (40%) |species == Mosquito; gene == LOC11564; score == 148; expect == 1.9e-36; MEOW:AGgn0011564 (43%) |species == Fruitfly; gene == CG8642; score == 147; expect == 1.1e-35; MEOW:FBgn0033312 (42%) |species == Mosquito; score == 146; expect == 2.4e-35; MEOW:AGgn0015683 (36%) |species == Mosquito; gene == LOC20281; score == 146; expect == 2.4e-35; MEOW:AGgn0020281 (40%) |species == Mosquito; score == 144; expect == 3.5e-35; MEOW:AGgn0019563 (42%) |species == Zfish; gene == tenc; score == 143; expect == 1.8e-35; MEOW:ZFgn0000002 (38%) |species == Zfish; gene == angptl3; score == 136; expect == 2.2e-33; MEOW:ZFgn0002321 (37%) |species == Fruitfly; gene == CG6788; score == 133; expect == 2.9e-31; MEOW:FBgn0030880 (37%) |species == Fruitfly; gene == CG32496; score == 133; expect == 2.9e-31; MEOW:FBgn0052496 (37%) |species == Fruitfly; gene == CG1791; score == 132; expect == 3.8e-31; MEOW:FBgn0030163 (39%) } # EOR GENR { RETE|ID 1 HUgn0002244 CHR 1 4 DID 1 LocusLink:2244 MAP 1 4q28 NAM 1 fibrinogen, B beta polypeptide ORG 1 Homo sapiens SYM 1 FGB ID|HUgn0002244 DID|LocusLink:2244 ORG|Homo sapiens RSQ|REFSEQ:NM_005141 RPA|REFPROT:NP_005132 DBA|XM:NM_005141 |NA:J00131 |NA:M26877 |NA:M64983 |NA:X05018 |NA:BC007030 |NA:BC036007 |NA:J00129 |NA:none PAC|XP:NP_005132 SYM|FGB NAM|fibrinogen, B beta polypeptide FNC|fibrinogen, beta chain preproprotein |regulation of blood pressure ; GO:0008217 |positive regulation of cell proliferation ; GO:0008284 |blood coagulation ; GO:0007596 REAB|The protein encoded by this gene is the beta component of fibrinogen, a blood-borne |glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following |vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most |abundant component of blood clots. In addition, various cleavage products of fibrinogen |and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic |activities, and are mitogens for several cell types. Mutations in this gene lead |to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia |and thrombotic tendency. S1 mapping studies on the 5'-flanking region of this gene |revealed three transcription initiation points. Transcript variants utilizing alternative |polyA signals have been described in the literature. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300774 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2244[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119130 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005141 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005141 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=300774 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA163 DBL|UNIGENE:Hs.300774 |OMIM:134830 |SNP:2244 |UWCM:119130.html MAP|4q28 PHP|Afibrinogenemia, congenital |Dysfibrinogenemia, beta type |Thrombophilia, dysfibrinogenemic ENZ|fibrinogen ; GO:0008001 CEL|fibrinogen beta chain ; GO:0005973 |soluble fraction ; GO:0005625 HG|species == Mouse; gene == Fgb; score == 862; expect == 0.0; MEOW:MGgn0004264 (83%) |species == rat; score == 832; expect == 0.0; MEOW:ref|NP_064456.1| (81%) |species == Human; gene == FGG; score == 235; expect == 4.8e-62; MEOW:HUgn0002266 (32%) |species == Human; gene == FGA; score == 207; expect == 1.4e-53; MEOW:HUgn0002243 (39%) |species == Human; gene == FGL1; score == 193; expect == 1.5e-49; MEOW:HUgn0002267 (42%) |species == Human; gene == ANGPTL2; score == 190; expect == 1.4e-48; MEOW:HUgn0023452 (39%) |species == Mosquito; score == 165; expect == 2.6e-41; MEOW:AGgn0002335 (39%) |species == Mosquito; score == 164; expect == 5.8e-41; MEOW:AGgn0021318 (39%) |species == Zfish; gene == angpt1; score == 154; expect == 5.5e-39; MEOW:ZFgn0002319 (28%) |species == Zfish; gene == tenc; score == 148; expect == 3.0e-37; MEOW:ZFgn0000002 (35%) |species == Zfish; gene == angpt2; score == 148; expect == 4.0e-37; MEOW:ZFgn0002320 (26%) |species == Mosquito; gene == LOC15680; score == 147; expect == 9.6e-36; MEOW:AGgn0015680 (32%) |species == Zfish; gene == angptl3; score == 147; expect == 5.2e-37; MEOW:ZFgn0002321 (29%) |species == Fruitfly; gene == CG30280; score == 146; expect == 1.3e-35; MEOW:FBgn0050280 (36%) |species == Fruitfly; gene == CG30281; score == 146; expect == 1.3e-35; MEOW:FBgn0050281 (36%) |species == Mosquito; score == 141; expect == 4.0e-34; MEOW:AGgn0011252 (32%) |species == Mosquito; score == 141; expect == 6.9e-34; MEOW:AGgn0020316 (38%) |species == Mosquito; gene == LOC25169; score == 141; expect == 5.3e-34; MEOW:AGgn0025169 (37%) |species == Mosquito; gene == LOC11248; score == 139; expect == 1.5e-33; MEOW:AGgn0011248 (38%) |species == Mosquito; gene == LOC13811; score == 139; expect == 2.0e-33; MEOW:AGgn0013811 (34%) |species == Mosquito; gene == LOC8282; score == 138; expect == 4.5e-33; MEOW:AGgn0008282 (30%) |species == Mosquito; score == 137; expect == 1.0e-32; MEOW:AGgn0021698 (37%) |species == Fruitfly; gene == CG8642; score == 137; expect == 6.1e-33; MEOW:FBgn0033312 (30%) |species == Zfish; gene == tenw; score == 131; expect == 5.0e-32; MEOW:ZFgn0000239 (37%) } # EOR GENR { RETE|ID 1 HUgn0002245 CHR 1 X DID 1 LocusLink:2245 MAP 1 Xp11.21 NAM 1 faciogenital dysplasia (Aarskog-Scott syndrome) ORG 1 Homo sapiens SYM 1 FGD1 ID|HUgn0002245 DID|LocusLink:2245 ORG|Homo sapiens RSQ|REFSEQ:NM_004463 RPA|REFPROT:NP_004454 DBA|XM:NM_004463 |NA:BC034530 |NA:U11690 |NA:none PAC|XP:NP_004454 SYM|FGD1 NAM|faciogenital dysplasia (Aarskog-Scott syndrome) SYN|AAS |FGDY |ZFYVE3 FNC|faciogenital dysplasia protein |histogenesis and organogenesis ; GO:0007397 |development ; GO:0007275 |signal transduction ; GO:0007165 REAB|FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically |to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated |form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade |leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic |development, and FGD1 gene mutations result in the human developmental disorder, |Aarskog-Scott syndrome. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104349 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2245[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119131 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004463 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004463 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=104349 |http://www.geneclinics.org/query?mim=305400 DBL|UNIGENE:Hs.104349 |OMIM:305400 |SNP:2245 |UWCM:119131.html MAP|Xp11.21 PHP|Aarskog-Scott syndrome |Mental retardation, X-linked nonsyndromic ENZ|zinc ion binding ; GO:0008270 |guanyl-nucleotide exchange factor activity ; GO:0005085 HG|species == Mouse; gene == Fgd1; score == 1588; expect == 0.0; MEOW:MGgn0004265 (94%) |species == rat; score == 1137; expect == 0.0; MEOW:ref|XP_343780.1| (90%) |species == Human; gene == FRABIN; score == 644; expect == 0.0; MEOW:HUgn0121512 (53%) |species == Human; gene == FGD2; score == 560; expect == 1e-159; MEOW:HUgn0221472 (53%) |species == Human; gene == FGD3; score == 547; expect == 6e-156; MEOW:HUgn0089846 (51%) |species == Zfish; gene == fgd; score == 500; expect == 7e-143; MEOW:ZFgn0000739 (59%) |species == Worm; gene == exc-5; score == 230; expect == 2.2e-60; MEOW:CEgn0000633 (28%) } # EOR GENR { RETE|ID 1 HUgn0002246 CHR 1 5 DID 1 LocusLink:2246 MAP 1 5q31 NAM 1 fibroblast growth factor 1 (acidic) ORG 1 Homo sapiens SYM 1 FGF1 ID|HUgn0002246 DID|LocusLink:2246 ORG|Homo sapiens RSQ|REFSEQ:NM_000800 |REFSEQ:NM_033136 |REFSEQ:NM_033137 RPA|REFPROT:NP_000791 |REFPROT:NP_149127 |REFPROT:NP_149128 DBA|XM:NM_000800 |XM:NM_033136 |XM:NM_033137 |NA:M23087 |NA:M30492 |NA:X59065 |NA:AF211169 |NA:BC032697 |NA:BG706412 |NA:L01485 |NA:L01487 |NA:M13361 |NA:M60515 |NA:M60516 |NA:S67291 |NA:S67292 |NA:S67294 |NA:X51943 |NA:X65778 |NA:X65779 PAC|XP:NP_000791 |XP:NP_149127 |XP:NP_149128 SYM|FGF1 NAM|fibroblast growth factor 1 (acidic) SYN|AFGF |ECGF |FGFA |ECGFA |ECGFB |HBGF1 |GLIO703 |ECGF-beta |FGF-alpha FNC|fibroblast growth factor 1 (acidic) isoform 1 precursor |fibroblast growth factor 1 (acidic) isoform 2 precursor |fibroblast growth factor 1 (acidic) isoform 3 precursor |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |functions as a modifier of endothelial cell migration and proliferation, as well |as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived |cells in vitro, thus is thought to be involved in organogenesis. Three alternatively |spliced variants encoding different isoforms have been described. CHR|5 PRD|endothelial cell growth factor, beta |endothelial cell growth factor, alpha |heparin-binding growth factor 1 precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278954 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=483638 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2246[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119909 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000800 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000800 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278954 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=483638 DBL|UNIGENE:Hs.278954 |UNIGENE:Hs.483638 |OMIM:131220 |SNP:2246 MAP|5q31 ENZ|fibroblast growth factor receptor ligand ; GO:0005162 |growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Fgf1; score == 310; expect == 1.0e-85; MEOW:MGgn0004267 (95%) |species == rat; score == 310; expect == 1.5e-85; MEOW:ref|NP_036978.1| (95%) |species == Human; gene == FGF2; score == 160; expect == 2.6e-40; MEOW:HUgn0002247 (54%) } # EOR GENR { RETE|ID 1 HUgn0002247 CHR 1 4 DID 1 LocusLink:2247 MAP 1 4q26-q27 NAM 1 fibroblast growth factor 2 (basic) ORG 1 Homo sapiens SYM 1 FGF2 ID|HUgn0002247 DID|LocusLink:2247 ORG|Homo sapiens RSQ|REFSEQ:NM_002006 RPA|REFPROT:NP_001997 DBA|XM:NM_002006 |NA:S81809 |NA:X04431 |NA:X04433 |NA:Y13468 |NA:BE439775 |NA:J04513 |NA:M17599 |NA:M27968 |NA:none PAC|XP:NP_001997 SYM|FGF2 NAM|fibroblast growth factor 2 (basic) SYN|BFGF |FGFB |HBGH-2 FNC|fibroblast growth factor 2 |activation of MAPK ; GO:0000187 |positive regulation of cell proliferation ; GO:0008284 |RAS protein signal transduction ; GO:0007265 |chemotaxis ; GO:0006935 |muscle development ; GO:0007517 |histogenesis and organogenesis ; GO:0007397 |neurogenesis ; GO:0007399 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 |angiogenesis ; GO:0001525 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |is a wide-spectrum mitogenic, angiogenic, and neurotrophic factor, which has been |implicated in diverse biological processes, such as limb and nervous system development, |angiogenesis, wound healing, and tumor growth. There is evidence for multiple polyadenylation |sites of this gene. The protein translation is reported to initiate at different |sites by alternative CUG or ATG codons. CHR|4 PRD|prostatropin |heparin-binding growth factor 2 precusor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=284244 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2247[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119910 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002006 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002006 DBL|UNIGENE:Hs.284244 |OMIM:134920 |SNP:2247 MAP|4q26-q27 ENZ|heparin binding ; GO:0008201 |growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 |cytoplasm ; GO:0005737 HG|species == rat; score == 311; expect == 1.6e-85; MEOW:ref|NP_062178.1| (96%) |species == Mouse; gene == Fgf2; score == 305; expect == 4.8e-84; MEOW:MGgn0004276 (94%) |species == Human; gene == FGF1; score == 160; expect == 2.6e-40; MEOW:HUgn0002246 (54%) } # EOR GENR { RETE|ID 1 HUgn0002248 CHR 1 11 DID 1 LocusLink:2248 MAP 1 11q13 NAM 1 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ORG 1 Homo sapiens SYM 1 FGF3 ID|HUgn0002248 DID|LocusLink:2248 ORG|Homo sapiens RSQ|REFSEQ:NM_005247 RPA|REFPROT:NP_005238 DBA|XM:NM_005247 |NA:X14445 |NA:none PAC|XP:NP_005238 SYM|FGF3 NAM|fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) SYN|INT2 |HBGF-3 FNC|fibroblast growth factor 3 precursor |embryogenesis and morphogenesis ; GO:0007345 |histogenesis and organogenesis ; GO:0007397 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities |and are involved in a variety of biological processes including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene |was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated |in virally induced mammary tumors in the mouse. Frequent amplification of this gene |has been found in human tumors, which may be important for neoplastic transformation |and tumor progression. Studies of the similar genes in mouse and chicken suggested |the role in inner ear formation. CHR|11 PRD|oncogene INT2 |INT-2 proto-oncogene protein precursor |murine mammary tumor virus integration site 2, mouse, included |V-INT2 murine mammary tumor virus integration site oncogene homolog URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37092 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2248[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120103 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005247 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005247 DBL|UNIGENE:Hs.37092 |OMIM:164950 |SNP:2248 MAP|11q13 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 363; expect == 6e-101; MEOW:ref|NP_570830.1| (91%) |species == Mouse; gene == Fgf3; score == 357; expect == 2.5e-99; MEOW:MGgn0004277 (89%) |species == Zfish; gene == fgf3; score == 268; expect == 2.1e-72; MEOW:ZFgn0000037 (72%) |species == Human; gene == FGF10; score == 133; expect == 7.6e-32; MEOW:HUgn0002255 (47%) |species == Human; gene == FGF16; score == 131; expect == 2.2e-31; MEOW:HUgn0008823 (44%) } # EOR GENR { RETE|ID 1 HUgn0002249 CHR 1 11 DID 1 LocusLink:2249 MAP 1 11q13.3 NAM 1 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) ORG 1 Homo sapiens SYM 1 FGF4 ID|HUgn0002249 DID|LocusLink:2249 ORG|Homo sapiens RSQ|REFSEQ:NM_002007 RPA|REFPROT:NP_001998 DBA|XM:NM_002007 |NA:J02986 |NA:M17446 PAC|XP:NP_001998 SYM|FGF4 NAM|fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) SYN|HST |KFGF |HST-1 |HSTF1 |K-FGF |HBGF-4 FNC|fibroblast growth factor 4 precursor |positive regulation of cell proliferation ; GO:0008284 |oncogenesis ; GO:0007048 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities |and are involved in a variety of biological processes including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene |was identified by its oncogenic transforming activity. This gene and FGF3, another |oncogenic growth factor, are located closely on chromosome 11. Co-amplification |of both genes was found in various kinds of human tumors. Studies on the mouse homolog |suggested a function in bone morphogenesis and limb development through the sonic |hedgehog (SHH) signaling pathway. CHR|11 PRD|oncogene HST |kaposi sarcoma oncogene |transforming protein KS3 |heparin secretory transforming protein 1 |human stomach cancer, transforming factor from FGF-related oncogene URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1755 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2249[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120066 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002007 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002007 DBL|UNIGENE:Hs.1755 |OMIM:164980 |SNP:2249 MAP|11q13.3 ENZ|growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == Fgf4; score == 299; expect == 4.1e-82; MEOW:MGgn0004278 (86%) |species == rat; score == 263; expect == 4.9e-71; MEOW:ref|NP_446261.1| (78%) |species == Zfish; gene == fgf4; score == 218; expect == 2.0e-57; MEOW:ZFgn0000973 (60%) |species == Human; gene == FGF6; score == 195; expect == 1.3e-50; MEOW:HUgn0002251 (53%) } # EOR GENR { RETE|ID 1 HUgn0002250 CHR 1 4 DID 1 LocusLink:2250 MAP 1 4q21 NAM 1 fibroblast growth factor 5 ORG 1 Homo sapiens SYM 1 FGF5 ID|HUgn0002250 DID|LocusLink:2250 ORG|Homo sapiens RSQ|REFSEQ:NM_004464 |REFSEQ:NM_033143 RPA|REFPROT:NP_004455 |REFPROT:NP_149134 DBA|XM:NM_004464 |XM:NM_033143 |NA:M23534 |NA:M23536 |NA:AB016517 |NA:AF171928 |NA:AF535149 |NA:AK090557 |NA:M37825 |NA:none PAC|XP:NP_004455 |XP:NP_149134 SYM|FGF5 NAM|fibroblast growth factor 5 SYN|FGF5S FNC|fibroblast growth factor 5 isoform 1 precursor |fibroblast growth factor 5 isoform 2 precursor |FGF receptor signaling pathway ; GO:0008543 |neurogenesis ; GO:0007399 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene |was identified as an oncogene, which confers transforming potential when transfected |into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted |in the phenotype of abnormally long hair, which suggested a function as an inhibitor |of hair elongation. Two alternatively spliced variants encoding different isoforms |have been described. CHR|4 PRD|fibroblast growth factor 5S URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37055 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2250[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119907 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004464 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004464 DBL|UNIGENE:Hs.37055 |OMIM:165190 |SNP:2250 MAP|4q21 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Fgf5; score == 377; expect == 3e-105; MEOW:MGgn0004279 (83%) |species == rat; score == 362; expect == 1e-100; MEOW:ref|NP_071547.1| (82%) } # EOR GENR { RETE|ID 1 HUgn0002251 CHR 1 12 DID 1 LocusLink:2251 MAP 1 12p13 NAM 1 fibroblast growth factor 6 ORG 1 Homo sapiens SYM 1 FGF6 ID|HUgn0002251 DID|LocusLink:2251 ORG|Homo sapiens RSQ|REFSEQ:NM_020996 RPA|REFPROT:NP_066276 DBA|XM:NM_020996 |NA:X14071 |NA:X14072 |NA:X14073 |NA:X57075 |NA:X63454 |NA:none PAC|XP:NP_066276 SYM|FGF6 NAM|fibroblast growth factor 6 SYN|HST2 |HBGF-6 FNC|fibroblast growth factor 6 precursor |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 |angiogenesis ; GO:0001525 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene |displayed oncogenic transforming activity when transfected into mammalian cells. |The mouse homolog of this gene exhibits a restricted expression profile predominantly |in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166015 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2251[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119908 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020996 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020996 DBL|UNIGENE:Hs.166015 |OMIM:134921 |SNP:2251 MAP|12p13 ENZ|growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 HG|species == rat; score == 395; expect == 8e-111; MEOW:ref|NP_571983.1| (93%) |species == Zfish; gene == fgf4; score == 216; expect == 3.1e-58; MEOW:ZFgn0000973 (59%) |species == Mouse; gene == Fgf4; score == 199; expect == 7.6e-52; MEOW:MGgn0004278 (54%) |species == Human; gene == FGF4; score == 195; expect == 1.3e-50; MEOW:HUgn0002249 (53%) } # EOR GENR { RETE|ID 1 HUgn0002252 CHR 1 15 DID 1 LocusLink:2252 MAP 1 15q15-q21.1 NAM 1 fibroblast growth factor 7 (keratinocyte growth factor) ORG 1 Homo sapiens SYM 1 FGF7 ID|HUgn0002252 DID|LocusLink:2252 ORG|Homo sapiens RSQ|REFSEQ:NM_002009 RPA|REFPROT:NP_002000 DBA|XM:NM_002009 |NA:BC010956 |NA:M60828 |NA:S81661 |NA:none PAC|XP:NP_002000 SYM|FGF7 NAM|fibroblast growth factor 7 (keratinocyte growth factor) SYN|KGF |HBGF-7 FNC|fibroblast growth factor 7 precursor |epidermal differentiation ; GO:0008544 |response to wounding ; GO:0009611 |positive regulation of cell proliferation ; GO:0008284 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |is a potent epithelial cell-specific growth factor, whose mitogenic activity is |predominantly exhibited in keratinocytes but not in fibroblasts and endothelial |cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis |of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. CHR|15 PRD|keratinocyte growth factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374988 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433252 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131444 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002009 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002009 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374988 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433252 DBL|UNIGENE:Hs.374988 |UNIGENE:Hs.433252 |OMIM:148180 |SNP:2252 MAP|15q15-q21.1 ENZ|growth factor activity ; GO:0008083 CEL|extracellular ; GO:0005576 HG|species == Mouse; gene == Fgf7; score == 386; expect == 2e-108; MEOW:MGgn0004281 (94%) |species == rat; score == 382; expect == 8e-107; MEOW:ref|XP_346673.1| (92%) |species == Human; gene == LOC377754; score == 198; expect == 1.3e-51; MEOW:HUgn0377754 (86%) |species == Human; gene == FGF10; score == 181; expect == 1.7e-46; MEOW:HUgn0002255 (45%) |species == Human; gene == LOC377766; score == 170; expect == 1.5e-43; MEOW:HUgn0377766 (79%) } # EOR GENR { RETE|ID 1 HUgn0002253 CHR 1 10 DID 1 LocusLink:2253 MAP 1 10q24 NAM 1 fibroblast growth factor 8 (androgen-induced) ORG 1 Homo sapiens SYM 1 FGF8 ID|HUgn0002253 DID|LocusLink:2253 ORG|Homo sapiens RSQ|REFSEQ:NM_006119 |REFSEQ:NM_033163 |REFSEQ:NM_033164 |REFSEQ:NM_033165 RPA|REFPROT:NP_006110 |REFPROT:NP_149353 |REFPROT:NP_149354 |REFPROT:NP_149355 DBA|XM:NM_006119 |XM:NM_033163 |XM:NM_033164 |XM:NM_033165 |NA:D38752 |NA:S78466 |NA:U36228 |NA:U47011 |NA:AB014615 |NA:U36223 |NA:U46211 |NA:U46212 |NA:U46213 |NA:none PAC|XP:NP_006110 |XP:NP_149353 |XP:NP_149354 |XP:NP_149355 SYM|FGF8 NAM|fibroblast growth factor 8 (androgen-induced) SYN|AIGF |HBGF-8 FNC|fibroblast growth factor 8 isoform A precursor |fibroblast growth factor 8 isoform B precursor |fibroblast growth factor 8 isoform E precursor |fibroblast growth factor 8 isoform F precursor |gastrulation ; GO:0007369 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |is known to be a factor that supports androgen and anchorage independent growth |of mammary tumor cells. Overexpression of this gene has been shown to increase tumor |growth and angiogensis. The adult expression of this gene is restricted to testes |and ovaries. Temporal and spatial pattern of this gene expression suggests its function |as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed |roles in midbrain and lim development, organogenesis, embryo gastrulation and left-right |axis determination. The alternative splicing of this gene results in four transcript |variants. CHR|10 PRD|androgen-induced growth factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57710 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2253[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:591889 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033163 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033163 DBL|UNIGENE:Hs.57710 |OMIM:600483 |SNP:2253 MAP|10q24 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 |cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Fgf8; score == 374; expect == 2e-104; MEOW:MGgn0004282 (98%) |species == rat; score == 374; expect == 2e-104; MEOW:ref|NP_579820.1| (100%) |species == Zfish; gene == fgf8; score == 300; expect == 1.7e-83; MEOW:ZFgn0000382 (81%) |species == Human; gene == FGF17; score == 242; expect == 9.5e-65; MEOW:HUgn0008822 (64%) |species == Human; gene == FGF18; score == 208; expect == 1.5e-54; MEOW:HUgn0008817 (57%) } # EOR GENR { RETE|ID 1 HUgn0002254 CHR 1 13 DID 1 LocusLink:2254 MAP 1 13q11-q12 NAM 1 fibroblast growth factor 9 (glia-activating factor) ORG 1 Homo sapiens SYM 1 FGF9 ID|HUgn0002254 DID|LocusLink:2254 ORG|Homo sapiens RSQ|REFSEQ:NM_002010 RPA|REFPROT:NP_002001 DBA|XM:NM_002010 |NA:AL139378 |NA:D14838 |NA:none PAC|XP:NP_002001 SYM|FGF9 NAM|fibroblast growth factor 9 (glia-activating factor) SYN|GAF |HBFG-9 FNC|fibroblast growth factor 9 precursor |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 |cell differentiation ; GO:0030154 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured |glial cells. In nervous system, this protein is produced mainly by neurons and may |be important for glial cell development. Expression of the mouse homolog of this |gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the |homolog gene displayed a male-to-female sex reversal phenotype, which suggested |a role in testicular embryogenesis. CHR|13 PRD|glia-activating factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=111 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2254[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:207221 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002010 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28126 DBL|UNIGENE:Hs.111 |OMIM:600921 |SNP:2254 MAP|13q11-q12 ENZ|heparin binding ; GO:0008201 |growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Fgf9; score == 400; expect == 3e-112; MEOW:MGgn0004283 (99%) |species == rat; score == 397; expect == 2e-111; MEOW:ref|NP_037084.1| (99%) |species == Human; gene == FGF16; score == 298; expect == 1.8e-81; MEOW:HUgn0008823 (71%) |species == Mouse; gene == Fgf16; score == 294; expect == 2.0e-80; MEOW:MGgn0028542 (71%) |species == Human; gene == FGF20; score == 292; expect == 7.5e-80; MEOW:HUgn0026281 (68%) |species == Mouse; gene == Fgf20; score == 289; expect == 4.3e-79; MEOW:MGgn0028543 (68%) } # EOR GENR { RETE|ID 1 HUgn0002255 CHR 1 5 DID 1 LocusLink:2255 MAP 1 5p13-p12 NAM 1 fibroblast growth factor 10 ORG 1 Homo sapiens SYM 1 FGF10 ID|HUgn0002255 DID|LocusLink:2255 ORG|Homo sapiens RSQ|REFSEQ:NM_004465 RPA|REFPROT:NP_004456 DBA|XM:NM_004465 |NA:AB002097 |NA:U67918 |NA:none PAC|XP:NP_004456 SYM|FGF10 NAM|fibroblast growth factor 10 FNC|fibroblast growth factor 10 precursor |histogenesis and organogenesis ; GO:0007397 |signal transduction ; GO:0007165 |regulation of cell cycle ; GO:0000074 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein |exhibits mitogenic activity for keratinizing epidermal cells, but essentially no |activity for fibroblasts, which is similar to the biological activity of FGF7. Studies |of the mouse homolog of suggested that this gene is required for embryonic epidermal |morphogenesis including brain development, lung morphogenesis, and initiation of |lim bud formation. This gene is also implicated to be a primary factor in the process |of wound healing. CHR|5 PRD|keratinocyte growth factor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434809 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2255[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5218411 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004465 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004465 DBL|UNIGENE:Hs.434809 |OMIM:602115 |SNP:2255 MAP|5p13-p12 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 373; expect == 3e-104; MEOW:ref|NP_037083.1| (93%) |species == Mouse; gene == Fgf10; score == 355; expect == 4.9e-99; MEOW:MGgn0004268 (89%) |species == Human; gene == FGF7; score == 181; expect == 1.7e-46; MEOW:HUgn0002252 (45%) |species == Human; gene == FGF22; score == 172; expect == 1.1e-43; MEOW:HUgn0027006 (54%) |species == Zfish; gene == fgf3; score == 141; expect == 1.3e-35; MEOW:ZFgn0000037 (48%) } # EOR GENR { RETE|ID 1 HUgn0002256 CHR 1 17 DID 1 LocusLink:2256 MAP 1 17p13.1 NAM 1 fibroblast growth factor 11 ORG 1 Homo sapiens SYM 1 FGF11 ID|HUgn0002256 DID|LocusLink:2256 ORG|Homo sapiens RSQ|REFSEQ:NM_004112 RPA|REFPROT:NP_004103 DBA|XM:NM_004112 |NA:BC032502 |NA:U66199 |NA:Z70275 |NA:none PAC|XP:NP_004103 SYM|FGF11 NAM|fibroblast growth factor 11 SYN|FHF3 FNC|fibroblast growth factor 11 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function |of this gene has not yet been determined. The expression pattern of the the mouse |homolog implicates a role in nervous system development. CHR|17 PRD|fibroblast growth factor homologous factor 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=31339 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2256[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4073037 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004112 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004112 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=31339 DBL|UNIGENE:Hs.31339 |OMIM:601514 |SNP:2256 MAP|17p13.1 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == Fgf11; score == 444; expect == 2e-125; MEOW:MGgn0004269 (97%) |species == rat; score == 443; expect == 5e-125; MEOW:ref|NP_570829.1| (96%) |species == rat; score == 272; expect == 1.4e-73; MEOW:ref|NP_570827.1| (61%) |species == Mouse; gene == Fgf12; score == 269; expect == 1.1e-72; MEOW:MGgn0004270 (61%) |species == rat; score == 269; expect == 7.9e-73; MEOW:ref|NP_071559.2| (63%) |species == Human; gene == FGF14; score == 268; expect == 2.3e-72; MEOW:HUgn0002259 (63%) |species == Mouse; gene == Fgf14; score == 265; expect == 9.8e-72; MEOW:MGgn0004272 (63%) |species == Mouse; gene == Fgf13; score == 252; expect == 1.1e-67; MEOW:MGgn0004271 (58%) |species == Human; gene == FGF13; score == 248; expect == 2.1e-66; MEOW:HUgn0002258 (58%) |species == Human; gene == FGF12; score == 221; expect == 1.3e-58; MEOW:HUgn0002257 (67%) |species == rat; score == 221; expect == 2.4e-58; MEOW:ref|NP_445880.1| (65%) } # EOR GENR { RETE|ID 1 HUgn0002257 CHR 1 3 DID 1 LocusLink:2257 MAP 1 3q28 NAM 1 fibroblast growth factor 12 ORG 1 Homo sapiens SYM 1 FGF12 ID|HUgn0002257 DID|LocusLink:2257 ORG|Homo sapiens RSQ|REFSEQ:NM_004113 |REFSEQ:NM_021032 RPA|REFPROT:NP_004104 |REFPROT:NP_066360 DBA|XM:NM_004113 |XM:NM_021032 |NA:AK125307 |NA:BC022524 |NA:BI494808 |NA:U66197 |NA:U76381 |NA:Z70276 PAC|XP:NP_004104 |XP:NP_066360 SYM|FGF12 NAM|fibroblast growth factor 12 SYN|FHF1 |FGF12B FNC|fibroblast growth factor 12 isoform 1 |fibroblast growth factor 12 isoform 2 |heart development ; GO:0007507 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth |factor lacks the N-terminal signal sequence present in most of the FGF family members, |but it contains clusters of basic residues that have been demonstrated to act as |a nuclear localization signal. When transfected into mammalian cells, this protein |accumulated in the nucleus, but was not secreted. The specific function of this |gene has not yet been determined. Two alternatively spliced transcript variants |encoding distinct isoforms have been reported. CHR|3 PRD|myocyte-activating factor |fibroblast growth factor 12B |fibroblast growth factor FGF-12b |fibroblast growth factor homologous factor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=343809 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2257[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4073038 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004113 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004113 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=343809 DBL|UNIGENE:Hs.343809 |OMIM:601513 |SNP:2257 MAP|3q28 ENZ|growth factor activity ; GO:0008083 CEL|extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == Mouse; gene == Fgf12; score == 360; expect == 1e-100; MEOW:MGgn0004270 (99%) |species == rat; score == 360; expect == 2e-100; MEOW:ref|NP_570827.1| (99%) |species == Human; gene == FGF14; score == 286; expect == 4.2e-78; MEOW:HUgn0002259 (73%) |species == Human; gene == FGF13; score == 264; expect == 1.7e-71; MEOW:HUgn0002258 (68%) } # EOR GENR { RETE|ID 1 HUgn0002258 CHR 1 X DID 1 LocusLink:2258 MAP 1 Xq26.3 NAM 1 fibroblast growth factor 13 ORG 1 Homo sapiens SYM 1 FGF13 ID|HUgn0002258 DID|LocusLink:2258 ORG|Homo sapiens RSQ|REFSEQ:NM_004114 |REFSEQ:NM_033642 RPA|REFPROT:NP_004105 |REFPROT:NP_378668 DBA|XM:NM_004114 |XM:NM_033642 |NA:AL031386 |NA:AF100143 |NA:AF100144 |NA:BC012347 |NA:BC034340 |NA:U66198 |NA:none PAC|XP:NP_004105 |XP:NP_378668 SYM|FGF13 NAM|fibroblast growth factor 13 SYN|FGF2 |FHF2 FNC|fibroblast growth factor 13 isoform 1A |fibroblast growth factor 13 isoform 1B |regulation of transcription, DNA-dependent ; GO:0006355 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene |is located to a region associated with Borjeson-Forssman-Lehmann syndrome (BFLS), |a syndromal X-linked mental retardation, which suggests it may be a candidate gene |for familial cases of the BFL syndrome. The function of this gene has not yet been |determined. Two alternatively spliced transcripts encoding different isoforms have |been described for this gene. CHR|X PRD|fibroblast growth factor homologous factor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6540 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2258[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5218393 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004114 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004114 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=6540 DBL|UNIGENE:Hs.6540 |OMIM:300070 |SNP:2258 MAP|Xq26.3 ENZ|growth factor activity ; GO:0008083 |DNA binding ; GO:0003677 CEL|extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == Mouse; gene == Fgf13; score == 490; expect == 2e-139; MEOW:MGgn0004271 (99%) |species == rat; score == 371; expect == 1e-103; MEOW:ref|NP_445880.1| (97%) |species == rat; score == 341; expect == 1.9e-94; MEOW:ref|NP_071559.2| (67%) |species == Human; gene == FGF14; score == 340; expect == 3.1e-94; MEOW:HUgn0002259 (67%) |species == rat; score == 320; expect == 3.3e-88; MEOW:ref|NP_570827.1| (65%) } # EOR GENR { RETE|ID 1 HUgn0002259 CHR 1 13 DID 1 LocusLink:2259 MAP 1 13q34 NAM 1 fibroblast growth factor 14 ORG 1 Homo sapiens SYM 1 FGF14 ID|HUgn0002259 DID|LocusLink:2259 ORG|Homo sapiens RSQ|REFSEQ:NM_004115 |REFSEQ:NM_175929 RPA|REFPROT:NP_004106 |REFPROT:NP_787125 DBA|XM:NM_004115 |XM:NM_175929 |NA:AY188178 |NA:U66200 |NA:none PAC|XP:NP_004106 |XP:NP_787125 SYM|FGF14 NAM|fibroblast growth factor 14 SYN|FHF4 FNC|fibroblast growth factor 14 isoform 1A |fibroblast growth factor 14 isoform 1B REAB|The protein encoded by this gene is a member of the fibroblast growth factor (FGF) |family. FGF family members possess broad mitogenic and cell survival activities, |and are involved in a variety of biological processes, including embryonic development, |cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation |in this gene is associated with autosomal dominant cerebral ataxia. Alternatively |spliced transcript variants have been found for this gene. CHR|13 PRD|fibroblast growth factor homologous factor 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=223851 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2259[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5302693 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_175929 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_175929 DBL|UNIGENE:Hs.223851 |OMIM:601515 |SNP:2259 MAP|13q34 PHP|Cerebellar ataxia, autosomal dominant, FGF14-related HG|species == rat; score == 469; expect == 8e-133; MEOW:ref|NP_071559.2| (98%) |species == Mouse; gene == Fgf14; score == 464; expect == 1e-131; MEOW:MGgn0004272 (98%) |species == Human; gene == FGF13; score == 340; expect == 3.1e-94; MEOW:HUgn0002258 (67%) |species == Human; gene == FGF12; score == 286; expect == 4.2e-78; MEOW:HUgn0002257 (73%) } # EOR GENR { RETE|ID 1 HUgn0002260 CHR 1 8 DID 1 LocusLink:2260 MAP 1 8p11.2-p11.1 NAM 1 fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) ORG 1 Homo sapiens SYM 1 FGFR1 ID|HUgn0002260 DID|LocusLink:2260 ORG|Homo sapiens RSQ|REFSEQ:NM_000604 |REFSEQ:NM_015850 |REFSEQ:NM_023105 |REFSEQ:NM_023106 |REFSEQ:NM_023107 |REFSEQ:NM_023108 |REFSEQ:NM_023109 |REFSEQ:NM_023110 |REFSEQ:NM_023111 RPA|REFPROT:NP_000595 |REFPROT:NP_056934 |REFPROT:NP_075593 |REFPROT:NP_075594 |REFPROT:NP_075595 |REFPROT:NP_075596 |REFPROT:NP_075597 |REFPROT:NP_075598 |REFPROT:NP_075599 DBA|XM:NM_000604 |XM:NM_015850 |XM:NM_023105 |XM:NM_023106 |XM:NM_023107 |XM:NM_023108 |XM:NM_023109 |XM:NM_023110 |XM:NM_023111 |NA:AK024388 |NA:BC015035 |NA:BC018128 |NA:BX649167 |NA:M34185 |NA:M34186 |NA:M34187 |NA:M34188 |NA:M34641 |NA:M37722 |NA:M60485 |NA:M63887 |NA:M63888 |NA:M63889 |NA:X51803 |NA:X52833 |NA:X57118 |NA:X57119 |NA:X57120 |NA:X57121 |NA:X57122 |NA:X66945 |NA:Y00665 PAC|XP:NP_000595 |XP:NP_056934 |XP:NP_075593 |XP:NP_075594 |XP:NP_075595 |XP:NP_075596 |XP:NP_075597 |XP:NP_075598 |XP:NP_075599 SYM|FGFR1 NAM|fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) SYN|H2 |H3 |H4 |H5 |CEK |FLG |FLT2 |KAL2 |BFGFR |C-FGR |N-SAM |FLJ14326 FNC|fibroblast growth factor receptor 1 isoform 1 precursor |fibroblast growth factor receptor 1 isoform 2 precursor |fibroblast growth factor receptor 1 isoform 3 precursor |fibroblast growth factor receptor 1 isoform 4 precursor |fibroblast growth factor receptor 1 isoform 5 precursor |fibroblast growth factor receptor 1 isoform 6 precursor |fibroblast growth factor receptor 1 isoform 7 precursor |fibroblast growth factor receptor 1 isoform 8 precursor |fibroblast growth factor receptor 1 isoform 9 precursor |FGF receptor signaling pathway ; GO:0008543 |MAPKKK cascade ; GO:0000165 |skeletal development ; GO:0001501 |oncogenesis ; GO:0007048 REAB|The protein encoded by this gene is a member of the fibroblast growth factor receptor |family, where amino acid sequence is highly conserved between members and throughout |evolution. FGFR family members differ from one another in their ligand affinities |and tissue distribution. A full-length representative protein consists of an extracellular |region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning |segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the |protein interacts with fibroblast growth factors, setting in motion a cascade of |downstream signals, ultimately influencing mitogenesis and differentiation. This |particular family member binds both acidic and basic fibroblast growth factors and |is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome |and Jackson-Weiss syndrome. The genomic organization of this gene is very similar |to family members 2-4, encompassing 19 exons that are subject to complex alternative |splicing, which allows for structural, tissue expression and ligand affinity variations |among the isoforms. CHR|8 PRD|FLG protein |N-sam tyrosine kinase |tyrosylprotein kinase |protein-tyrosine kinase |FMS-like tyrosine kinase 2 |hydroxyaryl-protein kinase |fms-related tyrosine kinase-2 |heparin-binding growth factor receptor |basic fibroblast growth factor receptor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=748 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2260[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119913 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_023109 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_023109 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=748 |http://www.geneclinics.org/query?mim=136350 DBL|UNIGENE:Hs.748 |OMIM:136350 |SNP:2260 |UWCM:119913.html ENZ|EC:2.7.1.112 |fibroblast growth factor receptor activity ; GO:0005007 MAP|8p11.2-p11.1 PHP|Jackson-Weiss sydnrome |Kallmann syndrome 2 |Pfeiffer syndrome CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Fgfr1; score == 1562; expect == 0.0; MEOW:MGgn0004285 (97%) |species == Zfish; gene == fgfr1; score == 1166; expect == 0.0; MEOW:ZFgn0000064 (72%) |species == Human; gene == FGFR2; score == 1165; expect == 0.0; MEOW:HUgn0002263 (70%) |species == Zfish; gene == fgfr3; score == 1027; expect == 0.0; MEOW:ZFgn0000918 (64%) |species == rat; score == 981; expect == 0.0; MEOW:ref|NP_445881.1| (66%) |species == Human; gene == FGFR3; score == 977; expect == 0.0; MEOW:HUgn0002261 (67%) |species == Zfish; gene == fgfr4; score == 939; expect == 0.0; MEOW:ZFgn0000165 (62%) |species == rat; score == 939; expect == 0.0; MEOW:ref|XP_346492.1| (97%) |species == rat; score == 878; expect == 0.0; MEOW:ref|XP_341941.1| (74%) |species == rat; score == 869; expect == 0.0; MEOW:ref|XP_344571.1| (60%) |species == Mosquito; gene == LOC3182; score == 529; expect == 2e-150; MEOW:AGgn0003182 (44%) |species == Mosquito; score == 526; expect == 2e-149; MEOW:AGgn0026153 (44%) |species == Fruitfly; gene == htl; score == 438; expect == 4e-123; MEOW:FBgn0010389 (39%) |species == Fruitfly; gene == btl; score == 430; expect == 1e-120; MEOW:FBgn0005592 (37%) |species == Worm; gene == egl-15; score == 413; expect == 2e-115; MEOW:CEgn0000492 (36%) |species == Worm; gene == F58A3.2d; score == 406; expect == 2e-113; MEOW:CEgn0032211 (37%) |species == chimp; score == 183; expect == 8.9e-48; MEOW:sp|BAC78172|BAC78172 (38%) |species == Weed; gene == At5g11850; score == 147; expect == 3.1e-35; MEOW:ATgn0025217 (32%) |species == rice; score == 147; expect == 4.1e-35; MEOW:gnl|TIGR|8357.m03093 (30%) |species == rice; score == 145; expect == 2.0e-34; MEOW:gnl|TIGR|8354.m04232 (32%) |species == Weed; gene == At2g17700; score == 142; expect == 5.9e-34; MEOW:ATgn0028393 (29%) |species == rice; score == 140; expect == 6.5e-33; MEOW:gnl|TIGR|8356.m01204 (30%) |species == Weed; gene == At4g35780; score == 138; expect == 1.1e-32; MEOW:ATgn0017130 (27%) |species == rice; score == 138; expect == 3.2e-32; MEOW:gnl|TIGR|8351.m00694 (31%) |species == Weed; gene == At1g62400; score == 137; expect == 1.9e-32; MEOW:ATgn0006564 (29%) |species == Weed; gene == At4g31170; score == 137; expect == 2.5e-32; MEOW:ATgn0018674 (30%) |species == Weed; gene == At4g38470; score == 137; expect == 3.2e-32; MEOW:ATgn0020261 (29%) |species == rice; score == 136; expect == 1.2e-31; MEOW:gnl|TIGR|8350.m05058 (28%) |species == rice; score == 136; expect == 1.2e-31; MEOW:gnl|TIGR|8352.m04814 (30%) |species == rice; score == 135; expect == 2.1e-31; MEOW:gnl|TIGR|8362.m02217 (29%) |species == Weed; gene == At2g24360; score == 134; expect == 1.6e-31; MEOW:ATgn0008622 (30%) |species == rice; score == 134; expect == 3.6e-31; MEOW:gnl|TIGR|8353.m03928 (28%) |species == rice; score == 134; expect == 3.6e-31; MEOW:gnl|TIGR|8359.m00564 (28%) |species == Weed; gene == At5g49470; score == 132; expect == 6.1e-31; MEOW:ATgn0022825 (31%) } # EOR GENR { RETE|ID 1 HUgn0002261 CHR 1 4 DID 1 LocusLink:2261 MAP 1 4p16.3 NAM 1 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ORG 1 Homo sapiens SYM 1 FGFR3 ID|HUgn0002261 DID|LocusLink:2261 ORG|Homo sapiens RSQ|REFSEQ:NM_000142 |REFSEQ:NM_022965 RPA|REFPROT:NP_000133 |REFPROT:NP_075254 DBA|XM:NM_000142 |XM:NM_022965 |NA:S76733 |NA:AF238374 |NA:AF245114 |NA:AF369212 |NA:AF369213 |NA:M58051 |NA:M59374 |NA:M64347 |NA:X84939 PAC|XP:NP_000133 |XP:NP_075254 SYM|FGFR3 NAM|fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) SYN|ACH |CEK2 |JTK4 |HSFGFR3EX FNC|fibroblast growth factor receptor 3 isoform 1 precursor |fibroblast growth factor receptor 3 isoform 2 precursor |JAK-STAT cascade ; GO:0007259 |FGF receptor signaling pathway ; GO:0008543 |MAPKKK cascade ; GO:0000165 |skeletal development ; GO:0001501 |oncogenesis ; GO:0007048 REAB|The protein encoded by this gene is a member of the fibroblast growth factor receptor |family, where amino acid sequence is highly conserved between members and throughout |evolution. FGFR family members differ from one another in their ligand affinities |and tissue distribution. A full-length representative protein would consist of an |extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic |membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular |portion of the protein interacts with fibroblast growth factors, setting in motion |a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. |This particular family member binds acidic and basic fibroblast growth hormone and |plays a role in bone development and maintenance. Mutations in this gene lead to |craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing |occurs and additional variants have been described, including those utilizing alternate |exon 8 rather than 9, but their full-length nature has not been determined. CHR|4 PRD|tyrosine kinase JTK4 |hydroxyaryl-protein kinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1420 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2261[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127526 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000142 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000142 |http://www.geneclinics.org/query?mim=100800 |http://www.geneclinics.org/query?mim=134934 DBL|UNIGENE:Hs.1420 |OMIM:134934 |SNP:2261 |UWCM:127526.html ENZ|EC:2.7.1.112 |fibroblast growth factor receptor activity ; GO:0005007 MAP|4p16.3 PHP|Achondroplasia |Bladder cancer |Cervical cancer, somatic |Colorectal cancer, somatic |Crouzon syndrome with acanthosis nigricans |Hypochondroplasia |Muencke syndrome |Thanatophoric dysplasia, types I and II CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1399; expect == 0.0; MEOW:ref|NP_445881.1| (93%) |species == Mouse; gene == Fgfr3; score == 1370; expect == 0.0; MEOW:MGgn0004287 (93%) |species == Zfish; gene == fgfr3; score == 1156; expect == 0.0; MEOW:ZFgn0000918 (76%) |species == Human; gene == FGFR2; score == 999; expect == 0.0; MEOW:HUgn0002263 (70%) |species == Zfish; gene == fgfr4; score == 979; expect == 0.0; MEOW:ZFgn0000165 (65%) |species == Human; gene == FGFR1; score == 977; expect == 0.0; MEOW:HUgn0002260 (67%) |species == Zfish; gene == fgfr1; score == 942; expect == 0.0; MEOW:ZFgn0000064 (62%) |species == Human; gene == FGFR4; score == 874; expect == 0.0; MEOW:HUgn0002264 (63%) |species == Mosquito; score == 521; expect == 5e-148; MEOW:AGgn0026153 (45%) |species == Mosquito; gene == LOC3182; score == 518; expect == 4e-147; MEOW:AGgn0003182 (45%) |species == Fruitfly; gene == htl; score == 453; expect == 1e-127; MEOW:FBgn0010389 (41%) |species == Fruitfly; gene == btl; score == 437; expect == 9e-123; MEOW:FBgn0005592 (36%) |species == Worm; gene == egl-15; score == 408; expect == 5e-114; MEOW:CEgn0000492 (38%) |species == Worm; gene == F58A3.2d; score == 403; expect == 1e-112; MEOW:CEgn0032211 (38%) |species == chimp; score == 179; expect == 9.7e-47; MEOW:sp|BAC78172|BAC78172 (36%) |species == rice; score == 149; expect == 1.4e-35; MEOW:gnl|TIGR|8354.m04232 (32%) |species == Weed; gene == At2g17700; score == 147; expect == 2.3e-35; MEOW:ATgn0028393 (29%) |species == rice; score == 145; expect == 2.0e-34; MEOW:gnl|TIGR|8356.m01204 (32%) |species == rice; score == 145; expect == 2.0e-34; MEOW:gnl|TIGR|8357.m03093 (29%) |species == rice; score == 144; expect == 5.7e-34; MEOW:gnl|TIGR|8351.m00694 (32%) |species == Weed; gene == At4g31170; score == 143; expect == 4.4e-34; MEOW:ATgn0018674 (31%) |species == Weed; gene == At1g62400; score == 142; expect == 7.5e-34; MEOW:ATgn0006564 (30%) |species == Weed; gene == At5g11850; score == 142; expect == 5.8e-34; MEOW:ATgn0025217 (30%) |species == Weed; gene == At4g35780; score == 141; expect == 1.7e-33; MEOW:ATgn0017130 (27%) |species == rice; score == 141; expect == 3.7e-33; MEOW:gnl|TIGR|8352.m04814 (31%) |species == rice; score == 139; expect == 1.4e-32; MEOW:gnl|TIGR|8350.m05058 (28%) |species == Weed; gene == At2g24360; score == 138; expect == 1.1e-32; MEOW:ATgn0008622 (31%) |species == Weed; gene == At4g38470; score == 138; expect == 1.4e-32; MEOW:ATgn0020261 (28%) |species == rice; score == 138; expect == 2.4e-32; MEOW:gnl|TIGR|8353.m03928 (28%) |species == Weed; gene == At5g49470; score == 134; expect == 1.6e-31; MEOW:ATgn0022825 (29%) |species == rice; score == 134; expect == 4.5e-31; MEOW:gnl|TIGR|8355.m02702 (28%) } # EOR GENR { RETE|ID 1 HUgn0002262 CHR 1 13 DID 1 LocusLink:2262 MAP 1 13q32 NAM 1 glypican 5 ORG 1 Homo sapiens SYM 1 GPC5 ID|HUgn0002262 DID|LocusLink:2262 ORG|Homo sapiens RSQ|REFSEQ:NM_004466 RPA|REFPROT:NP_004457 DBA|XM:NM_004466 |NA:AF001462 |NA:BC030584 |NA:BC039730 |NA:U66033 |NA:none PAC|XP:NP_004457 SYM|GPC5 NAM|glypican 5 FNC|glypican 5 |regulation of transcription, DNA-dependent ; GO:0006355 |signal transduction ; GO:0007165 REAB|Cell surface heparan sulfate proteoglycans are composed of a membrane-associated |protein core substituted with a variable number of heparan sulfate chains. Members |of the glypican-related integral membrane proteoglycan family (GRIPS) contain a |core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol |linkage. These proteins may play a role in the control of cell division and growth |regulation. CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76828 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2262[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5215220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004466 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004466 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76828 DBL|UNIGENE:Hs.76828 |OMIM:602446 |SNP:2262 MAP|13q32 ENZ|signal transducer activity ; GO:0004871 |transcription factor activity ; GO:0003700 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |extracellular matrix ; GO:0005578 |nucleus ; GO:0005634 HG|species == Mouse; gene == Gpc5; score == 983; expect == 0.0; MEOW:MGgn0004867 (85%) |species == rat; score == 667; expect == 0.0; MEOW:ref|XP_224489.2| (87%) |species == Human; gene == GPC3; score == 427; expect == 1e-119; MEOW:HUgn0002719 (46%) |species == Zfish; gene == kny; score == 185; expect == 2.7e-48; MEOW:ZFgn0002341 (27%) |species == Fruitfly; gene == dally; score == 178; expect == 4.9e-45; MEOW:FBgn0011577 (28%) |species == Fruitfly; gene == dlp; score == 155; expect == 3.4e-38; MEOW:FBgn0041604 (26%) |species == Mosquito; gene == LOC10459; score == 132; expect == 2.9e-31; MEOW:AGgn0010459 (25%) } # EOR GENR { RETE|ID 1 HUgn0002263 CHR 1 10 DID 1 LocusLink:2263 MAP 1 10q26 NAM 1 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ORG 1 Homo sapiens SYM 1 FGFR2 ID|HUgn0002263 DID|LocusLink:2263 ORG|Homo sapiens RSQ|REFSEQ:NM_000141 |REFSEQ:NM_022969 |REFSEQ:NM_022970 |REFSEQ:NM_022971 |REFSEQ:NM_022972 |REFSEQ:NM_022973 |REFSEQ:NM_022974 |REFSEQ:NM_022975 |REFSEQ:NM_022976 |REFSEQ:NM_023028 |REFSEQ:NM_023029 |REFSEQ:NM_023030 |REFSEQ:NM_023031 RPA|REFPROT:NP_000132 |REFPROT:NP_075258 |REFPROT:NP_075259 |REFPROT:NP_075260 |REFPROT:NP_075261 |REFPROT:NP_075262 |REFPROT:NP_075263 |REFPROT:NP_075264 |REFPROT:NP_075265 |REFPROT:NP_075417 |REFPROT:NP_075418 |REFPROT:NP_075419 |REFPROT:NP_075420 DBA|XM:NM_000141 |XM:NM_022969 |XM:NM_022970 |XM:NM_022971 |XM:NM_022972 |XM:NM_022973 |XM:NM_022974 |XM:NM_022975 |XM:NM_022976 |XM:NM_023028 |XM:NM_023029 |XM:NM_023030 |XM:NM_023031 |NA:AF097353 |NA:AF360695 |NA:L49237 |NA:L49238 |NA:L49239 |NA:L49240 |NA:L49241 |NA:L49242 |NA:Y17131 |NA:AB030073 |NA:AB030074 |NA:AB030075 |NA:AB030076 |NA:AB030077 |NA:AB030078 |NA:AB084153 |NA:AK026508 |NA:BC037338 |NA:BC039243 |NA:M55614 |NA:M80634 |NA:M87770 |NA:M87771 |NA:M87772 |NA:M97193 |NA:S41878 |NA:U11814 |NA:X52832 |NA:X56191 |NA:Z71929 PAC|XP:NP_000132 |XP:NP_075258 |XP:NP_075259 |XP:NP_075260 |XP:NP_075261 |XP:NP_075262 |XP:NP_075263 |XP:NP_075264 |XP:NP_075265 |XP:NP_075417 |XP:NP_075418 |XP:NP_075419 |XP:NP_075420 SYM|FGFR2 NAM|fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) SYN|BEK |JWS |CEK3 |CFD1 |ECT1 |KGFR |TK14 |TK25 |BFR-1 |K-SAM FNC|fibroblast growth factor receptor 2 isoform 1 precursor |fibroblast growth factor receptor 2 isoform 10 precursor |fibroblast growth factor receptor 2 isoform 11 precursor |fibroblast growth factor receptor 2 isoform 12 precursor |fibroblast growth factor receptor 2 isoform 13 precursor |fibroblast growth factor receptor 2 isoform 2 precursor |fibroblast growth factor receptor 2 isoform 3 precursor |fibroblast growth factor receptor 2 isoform 4 precursor |fibroblast growth factor receptor 2 isoform 5 precursor |fibroblast growth factor receptor 2 isoform 6 precursor |fibroblast growth factor receptor 2 isoform 7 precursor |fibroblast growth factor receptor 2 isoform 8 precursor |fibroblast growth factor receptor 2 isoform 9 precursor REAB|The protein encoded by this gene is a member of the fibroblast growth factor receptor |family, where amino acid sequence is highly conserved between members and throughout |evolution. FGFR family members differ from one another in their ligand affinities |and tissue distribution. A full-length representative protein consists of an extracellular |region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning |segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the |protein interacts with fibroblast growth factors, setting in motion a cascade of |downstream signals, ultimately influencing mitogenesis and differentiation. This |particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte |growth factor, depending on the isoform. Mutations in this gene are associated with |many craniosynostotic syndromes and bone malformations. The genomic organization |of this gene encompasses 20 exons. Alternative splicing in multiple exons, including |those encoding the Ig-like domains, the transmembrane region and the carboxyl terminus, |results in varied isoforms which differ in structure and specificity. CHR|10 PRD|FGF receptor |K-sam protein |tyrosylprotein kinase |bacteria-expressed kinase |hydroxyaryl-protein kinase |keratinocyte growth factor receptor |fibroblast growth factor receptor BEK |protein tyrosine kinase, receptor like 14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=404081 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2263[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127273 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_023028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_023028 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=404081 |http://www.geneclinics.org/query?mim=176943 DBL|UNIGENE:Hs.404081 |OMIM:176943 |SNP:2263 |UWCM:127273.html ENZ|EC:2.7.1.112 MAP|10q26 PHP|Antley-Bixler syndrome |Apert syndrome |Beare-Stevenson cutis gyrata syndrome |Craniofacial-skeletal-dermatologic dysplasia |Craniosynostosis, nonspecific |Crouzon syndrome |Gastric cancer, somatic |Jackson-Weiss syndrome |Pfeiffer syndrome |Saethre-Chotzen syndrome HG|species == Mouse; gene == Fgfr2; score == 1525; expect == 0.0; MEOW:MGgn0004286 (96%) |species == Human; gene == FGFR1; score == 1165; expect == 0.0; MEOW:HUgn0002260 (70%) |species == Zfish; gene == fgfr3; score == 1077; expect == 0.0; MEOW:ZFgn0000918 (69%) |species == Zfish; gene == fgfr1; score == 1052; expect == 0.0; MEOW:ZFgn0000064 (67%) |species == rat; score == 1047; expect == 0.0; MEOW:ref|XP_341941.1| (93%) |species == rat; score == 1008; expect == 0.0; MEOW:ref|NP_445881.1| (69%) |species == Human; gene == FGFR3; score == 999; expect == 0.0; MEOW:HUgn0002261 (70%) |species == Zfish; gene == fgfr4; score == 969; expect == 0.0; MEOW:ZFgn0000165 (65%) |species == rat; score == 849; expect == 0.0; MEOW:ref|XP_344571.1| (57%) |species == Mosquito; gene == LOC3182; score == 542; expect == 2e-154; MEOW:AGgn0003182 (46%) |species == Mosquito; score == 533; expect == 1e-151; MEOW:AGgn0026153 (45%) |species == Fruitfly; gene == btl; score == 458; expect == 4e-129; MEOW:FBgn0005592 (42%) |species == Fruitfly; gene == htl; score == 435; expect == 3e-122; MEOW:FBgn0010389 (41%) |species == Worm; gene == egl-15; score == 413; expect == 2e-115; MEOW:CEgn0000492 (37%) |species == Worm; gene == F58A3.2d; score == 408; expect == 5e-114; MEOW:CEgn0032211 (38%) |species == chimp; score == 179; expect == 7.6e-47; MEOW:sp|BAC78172|BAC78172 (35%) |species == rice; score == 150; expect == 6.3e-36; MEOW:gnl|TIGR|8357.m03093 (30%) |species == rice; score == 142; expect == 1.7e-33; MEOW:gnl|TIGR|8354.m04232 (30%) |species == Weed; gene == At2g17700; score == 139; expect == 5.0e-33; MEOW:ATgn0028393 (28%) |species == Weed; gene == At1g62400; score == 138; expect == 1.5e-32; MEOW:ATgn0006564 (30%) |species == rice; score == 137; expect == 5.5e-32; MEOW:gnl|TIGR|8356.m01204 (30%) |species == Weed; gene == At4g31170; score == 135; expect == 1.2e-31; MEOW:ATgn0018674 (30%) |species == Weed; gene == At4g38470; score == 135; expect == 9.4e-32; MEOW:ATgn0020261 (28%) |species == Weed; gene == At4g35780; score == 134; expect == 1.6e-31; MEOW:ATgn0017130 (26%) |species == rice; score == 134; expect == 4.6e-31; MEOW:gnl|TIGR|8350.m05058 (28%) |species == rice; score == 134; expect == 6.1e-31; MEOW:gnl|TIGR|8351.m00694 (30%) |species == rice; score == 134; expect == 6.1e-31; MEOW:gnl|TIGR|8353.m03928 (27%) |species == Weed; gene == At5g11850; score == 133; expect == 3.6e-31; MEOW:ATgn0025217 (30%) |species == Weed; gene == At2g24360; score == 132; expect == 8.0e-31; MEOW:ATgn0008622 (29%) } # EOR GENR { RETE|ID 1 HUgn0002264 CHR 1 5 DID 1 LocusLink:2264 MAP 1 5q35.1-qter NAM 1 fibroblast growth factor receptor 4 ORG 1 Homo sapiens SYM 1 FGFR4 ID|HUgn0002264 DID|LocusLink:2264 ORG|Homo sapiens RSQ|REFSEQ:NM_002011 |REFSEQ:NM_022963 RPA|REFPROT:NP_002002 |REFPROT:NP_075252 DBA|XM:NM_002011 |XM:NM_022963 |NA:X68559 |NA:Y13901 |NA:AF202063 |NA:AF359241 |NA:AF359246 |NA:BC011847 |NA:L03840 |NA:M59373 |NA:X57205 |NA:none PAC|XP:NP_002002 |XP:NP_075252 SYM|FGFR4 NAM|fibroblast growth factor receptor 4 SYN|TKF |JTK2 FNC|fibroblast growth factor receptor 4 isoform 1 precursor |fibroblast growth factor receptor 4 isoform 2 precursor |FGF receptor signaling pathway ; GO:0008543 |protein amino acid phosphorylation ; GO:0006468 REAB|The protein encoded by this gene is a member of the fibroblast growth factor receptor |family, where amino acid sequence is highly conserved between members and throughout |evolution. FGFR family members differ from one another in their ligand affinities |and tissue distribution. A full-length representative protein would consist of an |extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic |membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular |portion of the protein interacts with fibroblast growth factors, setting in motion |a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. |The genomic organization of this gene, compared to members 1-3, encompasses 18 exons |rather than 19 or 20. Although alternative splicing has been observed, there is |no evidence that the C-terminal half of the IgIII domain of this protein varies |between three alternate forms, as indicated for members 1-3. This particular family |member preferentially binds acidic fibroblast growth factor and, although its specific |function is unknown, it is overexpressed in gynecological tumor samples, suggesting |a role in breast and ovarian tumorigenesis. CHR|5 PRD|tyrosylprotein kinase |protein-tyrosine kinase |hydroxyaryl-protein kinase |tyrosine kinase related to fibroblast growth factor receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=165950 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2264[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127929 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002011 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002011 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=165950 DBL|UNIGENE:Hs.165950 |OMIM:134935 |SNP:2264 ENZ|EC:2.7.1.112 |fibroblast growth factor receptor activity ; GO:0005007 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|5q35.1-qter PHP|Cancer progression/metastasis CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Fgfr4; score == 1303; expect == 0.0; MEOW:MGgn0004289 (88%) |species == rat; score == 1292; expect == 0.0; MEOW:ref|XP_344571.1| (89%) |species == Zfish; gene == fgfr4; score == 932; expect == 0.0; MEOW:ZFgn0000165 (65%) |species == Zfish; gene == fgfr3; score == 907; expect == 0.0; MEOW:ZFgn0000918 (60%) |species == Human; gene == FGFR3; score == 874; expect == 0.0; MEOW:HUgn0002261 (63%) |species == Human; gene == FGFR1; score == 851; expect == 0.0; MEOW:HUgn0002260 (60%) |species == Human; gene == FGFR2; score == 840; expect == 0.0; MEOW:HUgn0002263 (61%) |species == Zfish; gene == fgfr1; score == 825; expect == 0.0; MEOW:ZFgn0000064 (57%) |species == Mosquito; gene == LOC3182; score == 483; expect == 2e-136; MEOW:AGgn0003182 (43%) |species == Mosquito; score == 481; expect == 7e-136; MEOW:AGgn0026153 (44%) |species == Fruitfly; gene == htl; score == 412; expect == 5e-115; MEOW:FBgn0010389 (40%) |species == Fruitfly; gene == btl; score == 401; expect == 9e-112; MEOW:FBgn0005592 (37%) |species == Worm; gene == egl-15; score == 293; expect == 4.6e-79; MEOW:CEgn0000492 (49%) |species == Worm; gene == F58A3.2d; score == 288; expect == 1.2e-77; MEOW:CEgn0032211 (48%) |species == chimp; score == 188; expect == 2.1e-49; MEOW:sp|BAC78172|BAC78172 (37%) |species == Weed; gene == At2g17700; score == 154; expect == 2.5e-37; MEOW:ATgn0028393 (30%) |species == rice; score == 151; expect == 4.7e-36; MEOW:gnl|TIGR|8357.m03093 (29%) |species == Weed; gene == At4g38470; score == 148; expect == 1.1e-35; MEOW:ATgn0020261 (29%) |species == rice; score == 148; expect == 2.3e-35; MEOW:gnl|TIGR|8354.m04232 (33%) |species == rice; score == 147; expect == 3.9e-35; MEOW:gnl|TIGR|8356.m01204 (33%) |species == Weed; gene == At4g35780; score == 146; expect == 5.2e-35; MEOW:ATgn0017130 (28%) |species == rice; score == 144; expect == 3.3e-34; MEOW:gnl|TIGR|8351.m00694 (33%) |species == rice; score == 143; expect == 9.7e-34; MEOW:gnl|TIGR|8352.m05524 (30%) |species == Weed; gene == At4g31170; score == 141; expect == 1.7e-33; MEOW:ATgn0018674 (32%) |species == rice; score == 141; expect == 3.7e-33; MEOW:gnl|TIGR|8352.m04814 (32%) |species == Weed; gene == At2g24360; score == 137; expect == 2.4e-32; MEOW:ATgn0008622 (31%) |species == Weed; gene == At1g62400; score == 135; expect == 1.2e-31; MEOW:ATgn0006564 (29%) |species == Weed; gene == At5g49470; score == 134; expect == 2.7e-31; MEOW:ATgn0022825 (31%) |species == rice; score == 134; expect == 3.5e-31; MEOW:gnl|TIGR|8355.m02702 (30%) |species == rice; score == 133; expect == 7.7e-31; MEOW:gnl|TIGR|8360.m03494 (30%) } # EOR GENR { RETE|ID 1 HUgn0002265 CHR 1 6 DID 1 LocusLink:2265 NAM 1 fibroblast growth factor receptor 6 ORG 1 Homo sapiens SYM 1 FGFR6 ID|HUgn0002265 DID|LocusLink:2265 ORG|Homo sapiens DBA|NA:L25647 |NA:U49177 SYM|FGFR6 NAM|fibroblast growth factor receptor 6 CHR|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:342070 } # EOR GENR { RETE|ID 1 HUgn0002266 CHR 1 4 DID 1 LocusLink:2266 MAP 1 4q28 NAM 1 fibrinogen, gamma polypeptide ORG 1 Homo sapiens SYM 1 FGG ID|HUgn0002266 DID|LocusLink:2266 ORG|Homo sapiens RSQ|REFSEQ:NM_000509 |REFSEQ:NM_021870 RPA|REFPROT:NP_000500 |REFPROT:NP_068656 DBA|XM:NM_000509 |XM:NM_021870 |NA:K02569 |NA:M10014 |NA:BC007044 |NA:BC021674 |NA:BT007081 |NA:BX538098 |NA:X00086 |NA:X51473 |NA:none PAC|XP:NP_000500 |XP:NP_068656 SYM|FGG NAM|fibrinogen, gamma polypeptide FNC|fibrinogen, gamma chain isoform gamma-A precursor |fibrinogen, gamma chain isoform gamma-B precursor |regulation of blood pressure ; GO:0008217 |positive regulation of cell proliferation ; GO:0008284 |blood coagulation ; GO:0007596 REAB|The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne |glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following |vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most |abundant component of blood clots. In addition, various cleavage products of fibrinogen |and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic |activities, and are mitogens for several cell types. Mutations in this gene lead |to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. |Alternative splicing results in two isoforms, varying in the carboxy-terminus. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75431 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2266[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119132 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021870 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021870 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75431 DBL|UNIGENE:Hs.75431 |OMIM:134850 |SNP:2266 |UWCM:119132.html MAP|4q28 PHP|Dysfibrinogenemia, gamma type |Hypofibrinogenemia, gamma type |Thrombophilia, dysfibrinogenemic ENZ|fibrinogen ; GO:0008001 CEL|fibrinogen gamma chain ; GO:0005974 HG|species == Mouse; gene == Fgg; score == 740; expect == 0.0; MEOW:MGgn0004292 (83%) |species == rat; score == 713; expect == 0.0; MEOW:ref|NP_036691.1| (80%) |species == Human; gene == FGB; score == 235; expect == 4.8e-62; MEOW:HUgn0002244 (32%) |species == Human; gene == FGL1; score == 217; expect == 5.7e-57; MEOW:HUgn0002267 (45%) |species == Human; gene == FGA; score == 203; expect == 3.9e-52; MEOW:HUgn0002243 (42%) |species == Zfish; gene == angpt1; score == 156; expect == 1.7e-39; MEOW:ZFgn0002319 (29%) |species == Zfish; gene == angpt2; score == 148; expect == 3.5e-37; MEOW:ZFgn0002320 (29%) |species == Mosquito; gene == LOC13811; score == 140; expect == 7.8e-34; MEOW:AGgn0013811 (35%) |species == Mosquito; gene == LOC15680; score == 138; expect == 3.9e-33; MEOW:AGgn0015680 (36%) |species == Mosquito; score == 137; expect == 8.1e-33; MEOW:AGgn0027693 (28%) |species == Mosquito; score == 133; expect == 1.2e-31; MEOW:AGgn0011252 (39%) |species == Mosquito; gene == LOC20281; score == 133; expect == 1.2e-31; MEOW:AGgn0020281 (38%) |species == Mosquito; gene == LOC19678; score == 131; expect == 1.7e-31; MEOW:AGgn0019678 (40%) |species == Mosquito; score == 131; expect == 3.6e-31; MEOW:AGgn0027566 (38%) |species == Mosquito; score == 130; expect == 8.1e-31; MEOW:AGgn0016460 (37%) |species == Zfish; gene == angptl3; score == 128; expect == 3.7e-31; MEOW:ZFgn0002321 (39%) } # EOR GENR { RETE|ID 1 HUgn0002267 CHR 1 8 DID 1 LocusLink:2267 MAP 1 8p22-p21.3 NAM 1 fibrinogen-like 1 ORG 1 Homo sapiens SYM 1 FGL1 ID|HUgn0002267 DID|LocusLink:2267 ORG|Homo sapiens RSQ|REFSEQ:NM_004467 |REFSEQ:NM_147203 RPA|REFPROT:NP_004458 |REFPROT:NP_671736 DBA|XM:NM_004467 |XM:NM_147203 |NA:AF042354 |NA:AF168954 |NA:AL514837 |NA:AL531132 |NA:BC007047 |NA:BC033243 |NA:BG567956 |NA:BT006635 |NA:D14446 |NA:D87342 |NA:none PAC|XP:NP_004458 |XP:NP_671736 SYM|FGL1 NAM|fibrinogen-like 1 SYN|HFREP1 |HP-041 |LFIRE1 |HFREP-1 FNC|fibrinogen-like 1 precursor REAB|Fibrinogen-like 1 is a member of a fibrinogen family. FGL1 is homologous to the carboxy |terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved |cysteines of fibrinogens and fibrinogen related proteins. However, FGL1 lacks the |platelet-binding site, cross-linking region and a thrombin-sensitive site which |are necessary for fibrin clot formation. FGL1 may play a role in the development |of hepatocellular carcinomas. Two transcript variants encoding the same protein |exist for this gene. CHR|8 PRD|hepassocin |hepatocellular carcinoma-related sequence |hepatocyte-derived fibrinogen-related protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=107 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2267[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:207251 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004467 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004467 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=107 DBL|UNIGENE:Hs.107 |OMIM:605776 |SNP:2267 MAP|8p22-p21.3 ENZ|fibrinogen ; GO:0008001 CEL|fibrinogen complex ; GO:0005577 HG|species == Mouse; gene == Fgl1; score == 557; expect == 2e-159; MEOW:MGgn0004293 (81%) |species == rat; score == 436; expect == 8e-123; MEOW:ref|NP_742007.1| (79%) |species == Human; gene == FGG; score == 217; expect == 5.7e-57; MEOW:HUgn0002266 (45%) |species == Human; gene == FLJ14810; score == 215; expect == 2.9e-56; MEOW:HUgn0084929 (47%) |species == Human; gene == ANGPTL1; score == 205; expect == 3.0e-53; MEOW:HUgn0009068 (44%) |species == Human; gene == ANGPTL2; score == 204; expect == 1.2e-52; MEOW:HUgn0023452 (43%) |species == Human; gene == FGA; score == 203; expect == 3.0e-52; MEOW:HUgn0002243 (43%) |species == Human; gene == CDT6; score == 203; expect == 1.1e-52; MEOW:HUgn0010218 (39%) |species == Zfish; gene == angpt2; score == 195; expect == 4.2e-50; MEOW:ZFgn0002320 (39%) |species == Human; gene == FCN1; score == 193; expect == 1.5e-49; MEOW:HUgn0002219 (43%) |species == Human; gene == FGB; score == 193; expect == 1.5e-49; MEOW:HUgn0002244 (42%) |species == Human; gene == FGL2; score == 193; expect == 1.2e-49; MEOW:HUgn0010875 (44%) |species == Human; gene == ANGPT1; score == 188; expect == 5.2e-48; MEOW:HUgn0000284 (42%) |species == Human; gene == ANGPT2; score == 188; expect == 8.9e-48; MEOW:HUgn0000285 (42%) |species == Human; gene == MFAP4; score == 187; expect == 4.7e-48; MEOW:HUgn0004239 (43%) |species == Human; gene == ANGPT4; score == 180; expect == 1.4e-45; MEOW:HUgn0051378 (40%) |species == Mosquito; score == 176; expect == 6.4e-45; MEOW:AGgn0021318 (43%) |species == Zfish; gene == angpt1; score == 176; expect == 2.1e-44; MEOW:ZFgn0002319 (34%) |species == Mosquito; score == 174; expect == 1.8e-44; MEOW:AGgn0019563 (45%) |species == Mosquito; score == 171; expect == 2.4e-43; MEOW:AGgn0002335 (43%) |species == Mosquito; score == 169; expect == 2.3e-42; MEOW:AGgn0011252 (38%) |species == Fruitfly; gene == CG6788; score == 167; expect == 6.3e-42; MEOW:FBgn0030880 (36%) |species == Fruitfly; gene == CG32496; score == 167; expect == 3.8e-42; MEOW:FBgn0052496 (36%) |species == Mosquito; gene == LOC13811; score == 159; expect == 1.4e-39; MEOW:AGgn0013811 (40%) |species == Zfish; gene == tenc; score == 159; expect == 1.3e-40; MEOW:ZFgn0000002 (38%) |species == Zfish; gene == angptl3; score == 159; expect == 3.1e-39; MEOW:ZFgn0002321 (34%) |species == Mosquito; gene == LOC10235; score == 157; expect == 4.0e-39; MEOW:AGgn0010235 (40%) |species == Mosquito; score == 157; expect == 2.1e-39; MEOW:AGgn0016460 (42%) |species == Mosquito; gene == LOC15680; score == 156; expect == 1.2e-38; MEOW:AGgn0015680 (39%) |species == Fruitfly; gene == CG30280; score == 153; expect == 7.9e-38; MEOW:FBgn0050280 (42%) |species == Fruitfly; gene == CG30281; score == 153; expect == 7.9e-38; MEOW:FBgn0050281 (42%) |species == Mosquito; gene == LOC20281; score == 152; expect == 9.8e-38; MEOW:AGgn0020281 (42%) |species == Mosquito; score == 152; expect == 9.8e-38; MEOW:AGgn0027566 (40%) |species == Mosquito; gene == LOC11564; score == 148; expect == 1.9e-36; MEOW:AGgn0011564 (42%) |species == Fruitfly; gene == CG8642; score == 148; expect == 3.8e-36; MEOW:FBgn0033312 (33%) |species == Mosquito; gene == LOC15012; score == 141; expect == 2.3e-34; MEOW:AGgn0015012 (42%) |species == Fruitfly; gene == sca; score == 136; expect == 1.3e-32; MEOW:FBgn0003326 (35%) } # EOR GENR { RETE|ID 1 HUgn0002268 CHR 1 1 DID 1 LocusLink:2268 MAP 1 1p36.2-p36.1 NAM 1 Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog ORG 1 Homo sapiens SYM 1 FGR ID|HUgn0002268 DID|LocusLink:2268 ORG|Homo sapiens RSQ|REFSEQ:NM_005248 RPA|REFPROT:NP_005239 DBA|XM:NM_005248 |NA:M12502 |NA:AK130188 |NA:M19722 |NA:none PAC|XP:NP_005239 SYM|FGR NAM|Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog SYN|SRC2 |c-fgr |p55c-fgr FNC|Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog |response to virus ; GO:0009615 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 CHR|1 PRD|Oncogene FGR URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1422 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2268[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120615 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005248 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005248 DBL|UNIGENE:Hs.1422 |OMIM:164940 |SNP:2268 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|1p36.2-p36.1 HG|species == rat; score == 923; expect == 0.0; MEOW:ref|NP_077059.1| (84%) |species == Mouse; gene == Fgr; score == 916; expect == 0.0; MEOW:MGgn0004295 (84%) |species == Mouse; gene == Fyn; score == 772; expect == 0.0; MEOW:MGgn0004482 (70%) |species == Human; gene == FYN; score == 758; expect == 0.0; MEOW:HUgn0002534 (70%) |species == rat; score == 757; expect == 0.0; MEOW:ref|NP_036887.1| (70%) |species == Human; gene == YES1; score == 752; expect == 0.0; MEOW:HUgn0007525 (70%) |species == Mouse; gene == Yes; score == 744; expect == 0.0; MEOW:MGgn0013129 (67%) |species == rat; score == 743; expect == 0.0; MEOW:ref|XP_343645.1| (70%) |species == Human; gene == SRC; score == 716; expect == 0.0; MEOW:HUgn0006714 (67%) |species == Mosquito; score == 542; expect == 1e-154; MEOW:AGgn0005994 (56%) |species == Worm; gene == src-2; score == 483; expect == 1e-136; MEOW:CEgn0026958 (55%) |species == Mosquito; score == 474; expect == 2e-134; MEOW:AGgn0010020 (51%) |species == Fruitfly; gene == Src64B; score == 472; expect == 1e-133; MEOW:FBgn0003501 (50%) |species == Zfish; gene == itk; score == 302; expect == 1.4e-83; MEOW:ZFgn0000238 (39%) |species == rice; score == 159; expect == 1.1e-38; MEOW:gnl|TIGR|8355.m02702 (35%) |species == chimp; score == 157; expect == 1.9e-40; MEOW:sp|BAC78172|BAC78172 (31%) |species == Weed; gene == At4g38470; score == 152; expect == 5.9e-37; MEOW:ATgn0020261 (34%) |species == rice; score == 150; expect == 3.7e-36; MEOW:gnl|TIGR|8357.m03093 (33%) |species == Weed; gene == At2g17700; score == 149; expect == 3.8e-36; MEOW:ATgn0028393 (34%) |species == Weed; gene == At4g35780; score == 146; expect == 2.5e-35; MEOW:ATgn0017130 (33%) |species == rice; score == 139; expect == 8.6e-33; MEOW:gnl|TIGR|8352.m05524 (33%) |species == Weed; gene == At4g31170; score == 138; expect == 8.8e-33; MEOW:ATgn0018674 (33%) |species == rice; score == 137; expect == 4.3e-32; MEOW:gnl|TIGR|8356.m01204 (32%) |species == rice; score == 135; expect == 1.2e-31; MEOW:gnl|TIGR|8354.m04232 (31%) |species == Weed; gene == At1g67890; score == 134; expect == 9.7e-32; MEOW:ATgn0006424 (34%) |species == Weed; gene == At5g49470; score == 134; expect == 1.3e-31; MEOW:ATgn0022825 (33%) |species == rice; score == 134; expect == 3.6e-31; MEOW:gnl|TIGR|8352.m04814 (32%) |species == Weed; gene == At2g24360; score == 133; expect == 2.2e-31; MEOW:ATgn0008622 (32%) |species == Weed; gene == At5g11850; score == 132; expect == 3.7e-31; MEOW:ATgn0025217 (33%) |species == rice; score == 132; expect == 8.1e-31; MEOW:gnl|TIGR|8351.m00694 (31%) |species == Weed; gene == At3g06640; score == 131; expect == 8.2e-31; MEOW:ATgn0016813 (32%) } # EOR GENR { RETE|ID 1 HUgn0002269 CHR 1 X DID 1 LocusLink:2269 MAP 1 Xq12-q21.31 NAM 1 FG syndrome 1 ORG 1 Homo sapiens SYM 1 FGS1 ID|HUgn0002269 DID|LocusLink:2269 ORG|Homo sapiens SYM|FGS1 NAM|FG syndrome 1 CHR|X DBL|OMIM:305450 MAP|Xq12-q21.31 PHP|FG syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836950 |http://www.geneclinics.org/query?mim=305450 } # EOR GENR { RETE|ID 1 HUgn0002270 CHR 1 X DID 1 LocusLink:2270 MAP 1 Xq11-q28 NAM 1 FG syndrome 2 ORG 1 Homo sapiens SYM 1 FGS2 ID|HUgn0002270 DID|LocusLink:2270 ORG|Homo sapiens SYM|FGS2 NAM|FG syndrome 2 CHR|X DBL|OMIM:300321 MAP|Xq11-q28 PHP|FG syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836952 } # EOR GENR { RETE|ID 1 HUgn0002271 CHR 1 1 DID 1 LocusLink:2271 MAP 1 1q42.1 NAM 1 fumarate hydratase ORG 1 Homo sapiens SYM 1 FH ID|HUgn0002271 DID|LocusLink:2271 ORG|Homo sapiens RSQ|REFSEQ:NM_000143 RPA|REFPROT:NP_000134 DBA|XM:NM_000143 |NA:AL591898 |NA:AL606476 |NA:BC003108 |NA:BC017444 |NA:BT009839 |NA:M15502 |NA:U48857 |NA:U59309 |NA:none PAC|XP:NP_000134 SYM|FH NAM|fumarate hydratase SYN|LRCC |HLRCC |FUMARASE FNC|fumarate hydratase precursor |fumarate metabolism ; GO:0006106 |tricarboxylic acid cycle ; GO:0006099 |negative regulation of cell cycle ; GO:0045786 REAB|The protein encoded by this gene is an enzymatic component of the tricarboxylic acid |(TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. |It exists in both a cytosolic form and an N-terminal extended form, differing only |in the translation start site used. The N-terminal extended form is targeted to |the mitochondrion, where the removal of the extension generates the same form as |in the cytoplasm. It is similar to some thermostable class II fumarases and functions |as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead |to progressive encephalopathy. CHR|1 PRD|fumarase |Leiomyomatosis and renal cell cancer URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=391168 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2271[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119133 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000143 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000143 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=391168 |http://www.geneclinics.org/query?mim=136850 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00720 DBL|UNIGENE:Hs.391168 |OMIM:136850 |SNP:2271 ENZ|EC:4.2.1.2 |fumarate hydratase activity ; GO:0004333 |lyase activity ; GO:0016829 MAP|1q42.1 PHP|Fumarase deficiency |Leiomyomatosis and renal cell cancer |Multiple cutaneous and uterine leiomyomata, CEL|mitochondrion ; GO:0005739 |TCA cycle enzyme complex ; GO:0045239 HG|species == rat; score == 899; expect == 0.0; MEOW:ref|NP_058701.1| (92%) |species == Mouse; gene == Fh1; score == 884; expect == 0.0; MEOW:MGgn0004298 (96%) |species == Mosquito; gene == LOC20828; score == 718; expect == 0.0; MEOW:AGgn0020828 (79%) |species == Fruitfly; gene == CG4094; score == 705; expect == 0.0; MEOW:FBgn0029889 (76%) |species == Weed; gene == At2g47510; score == 668; expect == 0.0; MEOW:ATgn0011211 (69%) |species == Fruitfly; gene == CG4095; score == 650; expect == 0.0; MEOW:FBgn0029890 (70%) |species == Weed; gene == At5g50950; score == 634; expect == 0.0; MEOW:ATgn0024467 (71%) |species == Yeast; gene == FUM1; score == 622; expect == 1e-178; MEOW:SGgn0006183 (66%) |species == Fruitfly; gene == CG6140; score == 617; expect == 2e-177; MEOW:FBgn0036162 (68%) |species == rice; score == 574; expect == 4e-164; MEOW:gnl|TIGR|8360.m02035 (66%) |species == ecoli; score == 537; expect == 7e-154; MEOW:ref|NP_416128.1| (60%) |species == Worm; gene == fum-1; score == 474; expect == 2e-134; MEOW:CEgn0032241 (75%) |species == Human; gene == LOC341651; score == 384; expect == 2e-107; MEOW:HUgn0341651 (92%) } # EOR GENR { RETE|ID 1 HUgn0002272 CHR 1 3 DID 1 LocusLink:2272 MAP 1 3p14.2 NAM 1 fragile histidine triad gene ORG 1 Homo sapiens SYM 1 FHIT ID|HUgn0002272 DID|LocusLink:2272 ORG|Homo sapiens RSQ|REFSEQ:NM_002012 RPA|REFPROT:NP_002003 DBA|NA:AF023460 |NA:U76263 |NA:U76264 |NA:U76265 |NA:U76266 |NA:U76267 |NA:U76268 |NA:U76269 |NA:U76270 |NA:U76271 |NA:U76272 |NA:U88866 |NA:BC032336 |NA:U46922 |NA:none SYM|FHIT NAM|fragile histidine triad gene SYN|FRA3B |AP3Aase FNC|fragile histidine triad gene |nucleotide metabolism ; GO:0009117 |negative regulation of cell cycle ; GO:0045786 REAB|This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate |hydrolase involved in purine metabolism. The gene encompasses the common fragile |site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations |and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene |have been found in about half of all esophageal, stomach, and colon carcinomas. CHR|3 PRD|AP3A hydrolase |dinucleosidetriphosphatase |bis(5'-adenosyl)-triphosphatase |diadenosine 5',5'''-P1,P3-triphosphate hydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77252 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4250809 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002012 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002012 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28140 DBL|UNIGENE:Hs.77252 |OMIM:601153 |SNP:2272 ENZ|EC:3.6.1.29 |hydrolase activity ; GO:0016787 |bis(5'-adenosyl)-triphosphatase activity ; GO:0047710 MAP|3p14.2 HG|species == Mouse; gene == Fhit; score == 271; expect == 9.7e-74; MEOW:MGgn0004302 (89%) |species == rat; score == 268; expect == 6.3e-73; MEOW:ref|NP_068542.1| (87%) |species == Weed; gene == At5g58240; score == 143; expect == 2.9e-35; MEOW:ATgn0024270 (54%) } # EOR GENR { RETE|ID 1 HUgn0002273 CHR 1 X DID 1 LocusLink:2273 MAP 1 Xq26 NAM 1 four and a half LIM domains 1 ORG 1 Homo sapiens SYM 1 FHL1 ID|HUgn0002273 DID|LocusLink:2273 ORG|Homo sapiens RSQ|REFSEQ:NM_001449 RPA|REFPROT:NP_001440 DBA|XM:NM_001449 |NA:AF110763 |NA:AF063002 |NA:AK091702 |NA:AK094024 |NA:AK122708 |NA:BC010998 |NA:U29538 |NA:U60115 |NA:U60118 |NA:none PAC|XP:NP_001440 SYM|FHL1 NAM|four and a half LIM domains 1 SYN|KYO-T |SLIM1 FNC|four and a half LIM domains 1 CHR|X PRD|Four-and-a-half LIM domains 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421383 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2273[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874904 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001449 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001449 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421383 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28141 DBL|UNIGENE:Hs.421383 |OMIM:300163 |SNP:2273 MAP|Xq26 HG|species == Mouse; gene == Fhl1; score == 610; expect == 2e-175; MEOW:MGgn0004303 (94%) |species == rat; score == 479; expect == 1e-135; MEOW:ref|XP_234993.2| (72%) |species == Human; gene == FHL2; score == 335; expect == 1.2e-92; MEOW:HUgn0002274 (48%) |species == Fruitfly; gene == Lmpt; score == 298; expect == 1.3e-81; MEOW:FBgn0036672 (44%) |species == Worm; gene == F25H5.1a; score == 296; expect == 2.5e-80; MEOW:CEgn0009292 (42%) |species == Mosquito; gene == LOC14266; score == 294; expect == 2.3e-80; MEOW:AGgn0014266 (43%) |species == Human; gene == ACT; score == 290; expect == 4.6e-79; MEOW:HUgn0009457 (44%) |species == Human; gene == FHL3; score == 285; expect == 2.5e-77; MEOW:HUgn0002275 (42%) |species == Worm; gene == F25H5.1b; score == 253; expect == 1.2e-67; MEOW:CEgn0009293 (43%) } # EOR GENR { RETE|ID 1 HUgn0002274 CHR 1 2 DID 1 LocusLink:2274 MAP 1 2q12-q14 NAM 1 four and a half LIM domains 2 ORG 1 Homo sapiens SYM 1 FHL2 ID|HUgn0002274 DID|LocusLink:2274 ORG|Homo sapiens RSQ|REFSEQ:NM_001450 RPA|REFPROT:NP_001441 DBA|XM:NM_001450 |NA:BC012742 |NA:BC014397 |NA:BC036085 |NA:BC038780 |NA:L42176 |NA:U29332 |NA:U60117 |NA:none PAC|XP:NP_001441 SYM|FHL2 NAM|four and a half LIM domains 2 SYN|DRAL |SLIM3 FNC|four and a half LIM domains 2 CHR|2 PRD|down-regulated in rhabdomyosarcoma LIM protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=8302 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2274[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874905 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001450 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001450 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=8302 DBL|UNIGENE:Hs.8302 |OMIM:602633 |SNP:2274 MAP|2q12-q14 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fhl2; score == 594; expect == 2e-170; MEOW:MGgn0004304 (92%) |species == rat; score == 591; expect == 1e-169; MEOW:ref|NP_113865.1| (91%) |species == Human; gene == ACT; score == 406; expect == 6e-114; MEOW:HUgn0009457 (60%) |species == Mosquito; gene == LOC14266; score == 388; expect == 2e-108; MEOW:AGgn0014266 (56%) |species == Worm; gene == F25H5.1a; score == 388; expect == 1e-108; MEOW:CEgn0009292 (55%) |species == Fruitfly; gene == Lmpt; score == 380; expect == 2e-106; MEOW:FBgn0036672 (56%) |species == Human; gene == FHL3; score == 368; expect == 2e-102; MEOW:HUgn0002275 (52%) |species == Human; gene == FHL1; score == 335; expect == 1.2e-92; MEOW:HUgn0002273 (48%) |species == Worm; gene == F25H5.1b; score == 315; expect == 1.2e-86; MEOW:CEgn0009293 (54%) } # EOR GENR { RETE|ID 1 HUgn0002275 CHR 1 1 DID 1 LocusLink:2275 MAP 1 1p34 NAM 1 four and a half LIM domains 3 ORG 1 Homo sapiens SYM 1 FHL3 ID|HUgn0002275 DID|LocusLink:2275 ORG|Homo sapiens RSQ|REFSEQ:NM_004468 RPA|REFPROT:NP_004459 DBA|XM:NM_004468 |NA:U60116 |NA:none PAC|XP:NP_004459 SYM|FHL3 NAM|four and a half LIM domains 3 SYN|SLIM2 FNC|four and a half LIM domains 3 |muscle development ; GO:0007517 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=57687 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2275[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6874906 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004468 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004468 DBL|UNIGENE:Hs.57687 |SNP:2275 MAP|1p34 HG|species == Mouse; gene == Fhl3; score == 605; expect == 1e-173; MEOW:MGgn0004305 (95%) |species == rat; score == 593; expect == 4e-170; MEOW:ref|XP_233499.1| (90%) |species == Human; gene == FHL2; score == 368; expect == 2e-102; MEOW:HUgn0002274 (52%) |species == Fruitfly; gene == Lmpt; score == 350; expect == 1.6e-96; MEOW:FBgn0036672 (50%) |species == Worm; gene == F25H5.1a; score == 343; expect == 1.4e-94; MEOW:CEgn0009292 (47%) |species == Mosquito; gene == LOC14266; score == 342; expect == 2.3e-94; MEOW:AGgn0014266 (49%) |species == Human; gene == ACT; score == 329; expect == 8.9e-91; MEOW:HUgn0009457 (47%) } # EOR GENR { RETE|ID 1 HUgn0002277 CHR 1 X DID 1 LocusLink:2277 MAP 1 Xp22.31 NAM 1 c-fos induced growth factor (vascular endothelial growth factor D) ORG 1 Homo sapiens SYM 1 FIGF ID|HUgn0002277 DID|LocusLink:2277 ORG|Homo sapiens RSQ|REFSEQ:NM_004469 RPA|REFPROT:NP_004460 DBA|XM:NM_004469 |NA:U69570 |NA:Y12864 |NA:Y12865 |NA:Y12866 |NA:Y12867 |NA:Y12868 |NA:Y12869 |NA:Y12870 |NA:AJ000185 |NA:BC027948 |NA:D89630 |NA:Y12863 |NA:none PAC|XP:NP_004460 SYM|FIGF NAM|c-fos induced growth factor (vascular endothelial growth factor D) SYN|VEGFD |VEGF-D FNC|vascular endothelial growth factor D preproprotein |positive regulation of cell proliferation ; GO:0008284 |cell proliferation ; GO:0008283 |regulation of cell cycle ; GO:0000074 |angiogenesis ; GO:0001525 REAB|The protein encoded by this gene is a member of the platelet-derived growth factor/vascular |endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, |and endothelial cell growth. This secreted protein undergoes a complex proteolytic |maturation, generating multiple processed forms which bind and activate VEGFR-2 |and VEGFR-3 receptors. This protein is structurally and functionally similar to |vascular endothelial growth factor C. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=11392 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2277[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5967153 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004469 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004469 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=11392 DBL|UNIGENE:Hs.11392 |OMIM:300091 |SNP:2277 MAP|Xp22.31 ENZ|platelet-derived growth factor receptor binding ; GO:0005161 |growth factor activity ; GO:0008083 CEL|membrane ; GO:0016020 |extracellular space ; GO:0005615 HG|species == Mouse; gene == Figf; score == 647; expect == 0.0; MEOW:MGgn0004309 (83%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|XP_346873.1| (85%) |species == Human; gene == VEGFC; score == 258; expect == 2.7e-69; MEOW:HUgn0007424 (38%) } # EOR GENR { RETE|ID 1 HUgn0002278 CHR 1 6 DID 1 LocusLink:2278 MAP 1 6p23-p22.3 NAM 1 Friend-murine leukemia virus integration site 1 homolog ORG 1 Homo sapiens SYM 1 FIM1 ID|HUgn0002278 DID|LocusLink:2278 ORG|Homo sapiens SYM|FIM1 NAM|Friend-murine leukemia virus integration site 1 homolog CHR|6 PRD|Friend murine leukemia virus integration site 1, homolog of DBL|OMIM:136750 MAP|6p23-p22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119911 } # EOR GENR { RETE|ID 1 HUgn0002279 CHR 1 3 DID 1 LocusLink:2279 MAP 1 3q27 NAM 1 Friend-murine leukemia virus integration site 3 homolog ORG 1 Homo sapiens SYM 1 FIM3 ID|HUgn0002279 DID|LocusLink:2279 ORG|Homo sapiens SYM|FIM3 NAM|Friend-murine leukemia virus integration site 3 homolog CHR|3 PRD|Friend murine leukemia virus integration site 3, homolog of DBL|OMIM:136770 MAP|3q27 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119134 } # EOR GENR { RETE|ID 1 HUgn0002280 CHR 1 20 DID 1 LocusLink:2280 MAP 1 20p13 NAM 1 FK506 binding protein 1A, 12kDa ORG 1 Homo sapiens SYM 1 FKBP1A ID|HUgn0002280 DID|LocusLink:2280 ORG|Homo sapiens RSQ|REFSEQ:NM_000801 |REFSEQ:NM_054014 RPA|REFPROT:NP_000792 |REFPROT:NP_463460 DBA|XM:NM_000801 |XM:NM_054014 |NA:AL136531 |NA:M80199 |NA:M80204 |NA:M92423 |NA:M93060 |NA:X55741 |NA:AF205192 |NA:BC001925 |NA:BC005147 |NA:D28444 |NA:M34539 |NA:X52220 |NA:none PAC|XP:NP_000792 |XP:NP_463460 SYM|FKBP1A NAM|FK506 binding protein 1A, 12kDa SYN|FKBP1 |PKC12 |PKCI2 |FKBP12 |PPIASE |FKBP-12 |FKBP12C FNC|FK506-binding protein 1A |regulation of transcription, DNA-dependent ; GO:0006355 |protein folding ; GO:0006457 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular |signal transduction proteins including type I TGF-beta receptor. It also interacts |with multiple intracellular calcium release channels including the tetrameric skeletal |muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital |heart disorder known as noncompaction of left ventricular myocardium. There is evidence |of multiple alternatively spliced transcript variants for this gene, but the full |length nature of some variants has not been determined. CHR|20 PRD|rotamase |immunophilin FKBP12 |FK506-binding protein 1 |protein kinase C inhibitor 2 |FK506 binding protein 1A (12kD) |FK506-binding protein 1A (12kD) |peptidyl-prolyl cis-trans isomerase |FK506-binding protein, T-cell, 12-kD URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=374638 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2280[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128854 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000801 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000801 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=374638 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28153 DBL|UNIGENE:Hs.374638 |OMIM:186945 |SNP:2280 ENZ|EC:5.2.1.8 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |DNA binding ; GO:0003677 |receptor activity ; GO:0004872 |FK506 binding ; GO:0005528 |isomerase activity ; GO:0016853 MAP|20p13 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fkbp1a; score == 217; expect == 4.4e-58; MEOW:MGgn0004331 (97%) |species == rat; score == 217; expect == 6.7e-58; MEOW:ref|NP_445760.1| (97%) |species == Human; gene == LOC135521; score == 215; expect == 3.3e-57; MEOW:HUgn0135521 (95%) |species == rat; score == 214; expect == 5.7e-57; MEOW:ref|NP_037234.1| (96%) |species == Human; gene == FKBP1B; score == 197; expect == 9.4e-52; MEOW:HUgn0002281 (83%) |species == Mouse; gene == Fkbp1b; score == 194; expect == 3.0e-51; MEOW:MGgn0004332 (82%) |species == Fruitfly; gene == FK506-bp2; score == 175; expect == 2.2e-45; MEOW:FBgn0013954 (75%) |species == Mosquito; gene == LOC14046; score == 166; expect == 1.8e-42; MEOW:AGgn0014046 (73%) |species == Yeast; gene == FPR1; score == 136; expect == 1.9e-33; MEOW:SGgn0005079 (58%) |species == Worm; gene == fkb-2; score == 128; expect == 2.8e-31; MEOW:CEgn0000671 (60%) } # EOR GENR { RETE|ID 1 HUgn0002281 CHR 1 2 DID 1 LocusLink:2281 MAP 1 2p24.1 NAM 1 FK506 binding protein 1B, 12.6 kDa ORG 1 Homo sapiens SYM 1 FKBP1B ID|HUgn0002281 DID|LocusLink:2281 ORG|Homo sapiens RSQ|REFSEQ:NM_004116 |REFSEQ:NM_054033 RPA|REFPROT:NP_004107 |REFPROT:NP_473374 DBA|XM:NM_004116 |XM:NM_054033 |NA:AF322070 |NA:BC002614 |NA:BC050998 |NA:D38037 |NA:L37086 |NA:S69800 |NA:S69815 |NA:none PAC|XP:NP_004107 |XP:NP_473374 SYM|FKBP1B NAM|FK506 binding protein 1B, 12.6 kDa SYN|OTK4 |FKBP9 |FKBP1L |PKBP1L |PPIase |FKBP12.6 FNC|FK506-binding protein 1B isoform a |FK506-binding protein 1B isoform b |regulation of transcription, DNA-dependent ; GO:0006355 |muscle contraction ; GO:0006936 |protein folding ; GO:0006457 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding |protein 1A. Its physiological role is thought to be in excitation-contraction coupling |in cardiac muscle. There are two alternatively spliced transcript variants of this |gene encoding different isoforms. CHR|2 PRD|rotamase |immunophilin FKBP12.6 |FK506-binding protein 1-like |FK506 binding protein 1B (12.6 kD) |FK506-binding protein 1B (12.6 kD) |peptidyl-prolyl cis-trans isomerase DBL|OMIM:600620 |SNP:2281 ENZ|EC:5.2.1.8 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |DNA binding ; GO:0003677 |isomerase activity ; GO:0016853 MAP|2p24.1 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2281[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362749 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_054033 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_054033 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Fkbp1b; score == 218; expect == 2.6e-58; MEOW:MGgn0004332 (97%) |species == Human; gene == FKBP1A; score == 197; expect == 9.4e-52; MEOW:HUgn0002280 (83%) |species == Mouse; gene == Fkbp1a; score == 191; expect == 2.6e-50; MEOW:MGgn0004331 (81%) |species == rat; score == 191; expect == 4.0e-50; MEOW:ref|NP_445760.1| (81%) |species == Human; gene == LOC135521; score == 188; expect == 4.4e-49; MEOW:HUgn0135521 (79%) |species == rat; score == 188; expect == 3.3e-49; MEOW:ref|NP_037234.1| (80%) |species == Fruitfly; gene == FK506-bp2; score == 163; expect == 1.2e-41; MEOW:FBgn0013954 (69%) |species == Mosquito; gene == LOC14046; score == 157; expect == 1.1e-39; MEOW:AGgn0014046 (69%) |species == Yeast; gene == FPR1; score == 127; expect == 1.9e-31; MEOW:SGgn0005079 (56%) } # EOR GENR { RETE|ID 1 HUgn0002282 DID 1 LocusLink:2282 NAM 1 FK506 binding protein 1 pseudogene 1 ORG 1 Homo sapiens SYM 1 FKBP1P1 ID|HUgn0002282 DID|LocusLink:2282 CLA|Pseudogene ORG|Homo sapiens SYM|FKBP1P1 NAM|FK506 binding protein 1 pseudogene 1 PRD|FK506-binding protein 1 pseudogene 1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:133970 } # EOR GENR { RETE|ID 1 HUgn0002283 DID 1 LocusLink:2283 NAM 1 FK506 binding protein 1 pseudogene 2 ORG 1 Homo sapiens SYM 1 FKBP1P2 ID|HUgn0002283 DID|LocusLink:2283 CLA|Pseudogene ORG|Homo sapiens SYM|FKBP1P2 NAM|FK506 binding protein 1 pseudogene 2 PRD|FK506-binding protein 1 pseudogene 2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:133971 } # EOR GENR { RETE|ID 1 HUgn0002284 DID 1 LocusLink:2284 NAM 1 FK506 binding protein 1 pseudogene 3 ORG 1 Homo sapiens SYM 1 FKBP1P3 ID|HUgn0002284 DID|LocusLink:2284 CLA|Pseudogene ORG|Homo sapiens SYM|FKBP1P3 NAM|FK506 binding protein 1 pseudogene 3 PRD|FK506-binding protein 1 pseudogene 3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:133973 } # EOR GENR { RETE|ID 1 HUgn0002285 DID 1 LocusLink:2285 NAM 1 FK506 binding protein 1 pseudogene 4 ORG 1 Homo sapiens SYM 1 FKBP1P4 ID|HUgn0002285 DID|LocusLink:2285 CLA|Pseudogene ORG|Homo sapiens SYM|FKBP1P4 NAM|FK506 binding protein 1 pseudogene 4 PRD|FK506-binding protein 1 pseudogene 4 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:133972 } # EOR GENR { RETE|ID 1 HUgn0002286 CHR 1 11 DID 1 LocusLink:2286 MAP 1 11q13.1-q13.3 NAM 1 FK506 binding protein 2, 13kDa ORG 1 Homo sapiens SYM 1 FKBP2 ID|HUgn0002286 DID|LocusLink:2286 ORG|Homo sapiens RSQ|REFSEQ:NM_004470 |REFSEQ:NM_057092 RPA|REFPROT:NP_004461 |REFPROT:NP_476433 DBA|XM:NM_004470 |XM:NM_057092 |NA:L18980 |NA:BC003384 |NA:M65128 |NA:M75099 |NA:none PAC|XP:NP_004461 |XP:NP_476433 SYM|FKBP2 NAM|FK506 binding protein 2, 13kDa SYN|PPIase |FKBP-13 FNC|FK506-binding protein 2 precursor |protein folding ; GO:0006457 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds the immunosuppressants FK506 and rapamycin. It is thought to function as an |ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. |This gene has two alternatively spliced transcript variants that encode the same |isoform. Multiple polyadenylation sites have been described for this gene, but the |full length nature of this gene has not been determined. CHR|11 PRD|proline isomerase |rapamycin-binding protein |FK506 binding protein 2 (13kD) |FK506-binding protein 2 (13kD) |peptidyl-prolyl cis-trans isomerase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=227729 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2286[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133728 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004470 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004470 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=227729 DBL|UNIGENE:Hs.227729 |OMIM:186946 |SNP:2286 ENZ|EC:5.2.1.8 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |FK506 binding ; GO:0005528 |isomerase activity ; GO:0016853 MAP|11q13.1-q13.3 CEL|endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Fkbp2; score == 275; expect == 5.2e-75; MEOW:MGgn0004333 (95%) |species == rat; score == 275; expect == 4.4e-75; MEOW:ref|XP_215196.1| (95%) |species == Mosquito; gene == LOC16706; score == 192; expect == 3.0e-50; MEOW:AGgn0016706 (68%) |species == Worm; gene == fkb-1; score == 171; expect == 6.6e-44; MEOW:CEgn0000670 (65%) |species == rice; score == 156; expect == 8.2e-39; MEOW:gnl|TIGR|8350.m06473 (52%) |species == Weed; gene == At5g48580; score == 151; expect == 1.3e-37; MEOW:ATgn0021298 (54%) |species == Fruitfly; gene == CG14715; score == 149; expect == 3.9e-37; MEOW:FBgn0037930 (57%) |species == Weed; gene == At3g25220; score == 148; expect == 8.5e-37; MEOW:ATgn0017062 (57%) |species == rice; score == 139; expect == 1.0e-33; MEOW:gnl|TIGR|8357.m02783 (63%) |species == Fruitfly; gene == Fkbp13; score == 132; expect == 1.6e-31; MEOW:FBgn0010470 (55%) } # EOR GENR { RETE|ID 1 HUgn0002287 CHR 1 14 DID 1 LocusLink:2287 MAP 1 14q21.3 NAM 1 FK506 binding protein 3, 25kDa ORG 1 Homo sapiens SYM 1 FKBP3 ID|HUgn0002287 DID|LocusLink:2287 ORG|Homo sapiens RSQ|REFSEQ:NM_002013 RPA|REFPROT:NP_002004 DBA|XM:NM_002013 |NA:Z58738 |NA:BC016288 |NA:BC020809 |NA:M96256 |NA:none PAC|XP:NP_002004 SYM|FKBP3 NAM|FK506 binding protein 3, 25kDa SYN|PPIase |FKBP-25 FNC|FK506-binding protein 3 |protein folding ; GO:0006457 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds the immunosuppressants FK506 and rapamycin. It has a higher affinity for rapamycin |than for FK506 and thus may be an important target molecule for immunosuppression |by rapamycin. CHR|14 PRD|rotamase |rapamycin binding protein |FK506 binding protein 3 (25kD) |FK506-binding protein 3 (25kD) |FK506-binding protein 25, T-cell |peptidyl-prolyl cis-trans isomerase |rapamycin-selective 25 kDa immunophilin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=379557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2287[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132611 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002013 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002013 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=379557 DBL|UNIGENE:Hs.379557 |OMIM:186947 |SNP:2287 ENZ|EC:5.2.1.8 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |receptor activity ; GO:0004872 |FK506 binding ; GO:0005528 |isomerase activity ; GO:0016853 MAP|14q21.3 CEL|nucleus ; GO:0005634 HG|species == rat; score == 436; expect == 4e-123; MEOW:ref|XP_216717.1| (95%) |species == Mouse; gene == Fkbp3; score == 435; expect == 5e-123; MEOW:MGgn0013510 (94%) } # EOR GENR { RETE|ID 1 HUgn0002288 CHR 1 12 DID 1 LocusLink:2288 MAP 1 12p13.33 NAM 1 FK506 binding protein 4, 59kDa ORG 1 Homo sapiens SYM 1 FKBP4 ID|HUgn0002288 DID|LocusLink:2288 ORG|Homo sapiens RSQ|REFSEQ:NM_002014 RPA|REFPROT:NP_002005 DBA|XM:NM_002014 |NA:BC001786 |NA:BC002887 |NA:BC007924 |NA:M88279 |NA:none PAC|XP:NP_002005 SYM|FKBP4 NAM|FK506 binding protein 4, 59kDa SYN|HBI |p52 |Hsp56 |FKBP52 |FKBP59 |PPIase FNC|FK506-binding protein 4 |protein folding ; GO:0006457 |biological_process unknown ; GO:0000004 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds to the immunosuppressants FK506 and rapamycin. It has high structural and |functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this |protein does not have immunosuppressant activity when complexed with FK506. It interacts |with interferon regulatory factor-4 and plays an important role in immunoregulatory |gene expression in B and T lymphocytes. This encoded protein is known to associate |with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock |proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking |of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates |strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant |increase in AAV-mediated transgene expression in human cell lines. Thus this encoded |protein is thought to have important implications for the optimal use of AAV vectors |in human gene therapy. This gene has been found to have multiple polyadenylation |sites. CHR|12 PRD|rotamase |p59 protein |HSP binding immunophilin |FK506 binding protein 4 (59kD) |FK506-binding protein 4 (59kD) |T-cell FK506-binding protein, 59kD |peptidylprolyl cis-trans isomerase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=848 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2288[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134670 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002014 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002014 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=848 DBL|UNIGENE:Hs.848 |OMIM:600611 |SNP:2288 ENZ|EC:5.2.1.8 |Hsp70/Hsp90 organizing protein activity ; GO:0008077 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |FK506 binding ; GO:0005528 |isomerase activity ; GO:0016853 MAP|12p13.33 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 814; expect == 0.0; MEOW:ref|XP_342764.1| (89%) |species == Mouse; gene == Fkbp4; score == 811; expect == 0.0; MEOW:MGgn0004334 (89%) |species == Human; gene == LOC377749; score == 666; expect == 0.0; MEOW:HUgn0377749 (80%) |species == Fruitfly; gene == FKBP59; score == 362; expect == 1e-100; MEOW:FBgn0029174 (45%) |species == Worm; gene == fkb-6; score == 334; expect == 3.7e-92; MEOW:CEgn0009713 (41%) |species == Mosquito; score == 323; expect == 9.0e-89; MEOW:AGgn0025947 (42%) |species == Weed; gene == At3g25230; score == 264; expect == 6.8e-71; MEOW:ATgn0017064 (38%) |species == Weed; gene == At5g48570; score == 259; expect == 2.2e-69; MEOW:ATgn0021296 (37%) |species == rice; score == 247; expect == 1.2e-65; MEOW:gnl|TIGR|8356.m04023 (36%) |species == rice; score == 246; expect == 5.5e-65; MEOW:gnl|TIGR|8352.m02602 (36%) |species == rice; score == 210; expect == 2.6e-54; MEOW:gnl|TIGR|8351.m02713 (34%) } # EOR GENR { RETE|ID 1 HUgn0002289 CHR 1 6 DID 1 LocusLink:2289 MAP 1 6p21.3-21.2 NAM 1 FK506 binding protein 5 ORG 1 Homo sapiens SYM 1 FKBP5 ID|HUgn0002289 DID|LocusLink:2289 ORG|Homo sapiens RSQ|REFSEQ:NM_004117 RPA|REFPROT:NP_004108 DBA|XM:NM_004117 |NA:AF194172 |NA:AL122066 |NA:BC042605 |NA:BX647390 |NA:U42031 |NA:U71321 |NA:X97300 |NA:none PAC|XP:NP_004108 SYM|FKBP5 NAM|FK506 binding protein 5 SYN|P54 |FKBP51 |FKBP54 |PPIase |Ptg-10 FNC|FK506 binding protein 5 |protein folding ; GO:0006457 REAB|The protein encoded by this gene is a member of the immunophilin protein family, |which play a role in immunoregulation and basic cellular processes involving protein |folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that |binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin |inhibition. It also interacts functionally with mature hetero-oligomeric progesterone |receptor complexes along with the 90 kDa heat shock protein and P23 protein. This |gene has been found to have multiple polyadenylation sites. CHR|6 PRD|rotamase |FF1 antigen |FK506-binding protein 5 |HSP90-binding immunophilin |T-cell FK506-binding protein |51 kDa FK506-binding protein 5 |peptidylprolyl cis-trans isomerase |54 kDa progesterone receptor-associated immunophilin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2289[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5886492 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004117 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004117 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7557 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28162 DBL|UNIGENE:Hs.7557 |OMIM:602623 |SNP:2289 ENZ|EC:5.2.1.8 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |FK506 binding ; GO:0005528 |isomerase activity ; GO:0016853 MAP|6p21.3-21.2 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fkbp5; score == 808; expect == 0.0; MEOW:MGgn0004335 (87%) |species == rat; score == 785; expect == 0.0; MEOW:ref|XP_342104.1| (74%) |species == Human; gene == FKBP4; score == 519; expect == 2e-147; MEOW:HUgn0002288 (55%) |species == Mosquito; score == 333; expect == 6.6e-92; MEOW:AGgn0025947 (45%) |species == Fruitfly; gene == FKBP59; score == 322; expect == 2.1e-88; MEOW:FBgn0029174 (41%) |species == Worm; gene == fkb-6; score == 308; expect == 3.7e-84; MEOW:CEgn0009713 (41%) |species == Weed; gene == At3g25230; score == 242; expect == 2.8e-64; MEOW:ATgn0017064 (34%) |species == rice; score == 235; expect == 9.7e-62; MEOW:gnl|TIGR|8352.m02602 (35%) |species == Weed; gene == At5g48570; score == 231; expect == 4.9e-61; MEOW:ATgn0021296 (35%) |species == rice; score == 226; expect == 2.1e-59; MEOW:gnl|TIGR|8356.m04023 (34%) } # EOR GENR { RETE|ID 1 HUgn0002290 CHR 1 14 DID 1 LocusLink:2290 MAP 1 14q12-q13 NAM 1 forkhead box G1B ORG 1 Homo sapiens SYM 1 FOXG1B ID|HUgn0002290 DID|LocusLink:2290 ORG|Homo sapiens RSQ|REFSEQ:NM_005249 RPA|REFPROT:NP_005240 DBA|XM:NM_005249 |NA:BC035020 |NA:BC050072 |NA:X74142 |NA:none PAC|XP:NP_005240 SYM|FOXG1B NAM|forkhead box G1B SYN|BF1 |QIN |FKH2 |HFK1 |FKHL1 |FKHL4 |HBF-1 FNC|forkhead box G1B |brain development ; GO:0007420 |regulation of transcription, DNA-dependent ; GO:0006355 |embryogenesis and morphogenesis ; GO:0007345 |development ; GO:0007275 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct forkhead domain. The specific function of this gene has not yet been |determined; however, it may play a role in the development of the brain and telencephalon. CHR|14 PRD|oncogene QIN |forkhead (Drosophila)-like 1 |forkhead (Drosophila)-like 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=525266 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2290[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269886 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005249 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005249 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=525266 DBL|UNIGENE:Hs.525266 |OMIM:164874 |SNP:2290 MAP|14q12-q13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxg1; score == 572; expect == 1e-163; MEOW:MGgn0004402 (92%) |species == rat; score == 572; expect == 2e-163; MEOW:ref|NP_036692.1| (92%) |species == Zfish; gene == foxg1; score == 523; expect == 4e-150; MEOW:ZFgn0000525 (87%) |species == Mosquito; gene == LOC25119; score == 200; expect == 7.1e-52; MEOW:AGgn0025119 (66%) |species == Fruitfly; gene == slp2; score == 196; expect == 1.8e-50; MEOW:FBgn0004567 (66%) |species == Fruitfly; gene == slp1; score == 172; expect == 1.7e-43; MEOW:FBgn0003430 (69%) |species == Worm; gene == fkh-2; score == 157; expect == 8.5e-39; MEOW:CEgn0029101 (62%) |species == Human; gene == LOC344167; score == 145; expect == 6.3e-35; MEOW:HUgn0344167 (34%) |species == Human; gene == FOXC2; score == 142; expect == 4.1e-34; MEOW:HUgn0002303 (68%) |species == Human; gene == FOXC1; score == 140; expect == 2.0e-33; MEOW:HUgn0002296 (66%) |species == Human; gene == FOXL1; score == 138; expect == 7.7e-33; MEOW:HUgn0002300 (58%) |species == Human; gene == FOXL2; score == 136; expect == 2.2e-32; MEOW:HUgn0000668 (44%) |species == Human; gene == FOXI1; score == 135; expect == 6.5e-32; MEOW:HUgn0002299 (56%) |species == Human; gene == FOXD3; score == 134; expect == 8.5e-32; MEOW:HUgn0027022 (47%) } # EOR GENR { RETE|ID 1 HUgn0002291 CHR 1 14 DID 1 LocusLink:2291 MAP 1 14q13 NAM 1 forkhead box G1A ORG 1 Homo sapiens SYM 1 FOXG1A ID|HUgn0002291 DID|LocusLink:2291 ORG|Homo sapiens DBA|NA:X78202 |NA:BC040960 |NA:X74143 |NA:none SYM|FOXG1A NAM|forkhead box G1A SYN|BF2 |HBF2 |HFK2 |KHL2 |FKHL2 |HBF-2 |HBF-G2 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct forkhead domain. The specific function of this gene has not yet |been determined; however, it may play a role in the development of the brain and |the telencephalon. CHR|14 PRD|brain factor 2 |forkhead (Drosophila)-like 2 |Forkhead, drosophila, homolog-like 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169277 |http://www.gdb.org/gdb-bin/genera/accno?GDB:375747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC040960 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC040960 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169277 DBL|UNIGENE:Hs.169277 |OMIM:600779 |SNP:2291 MAP|14q13 ENZ|transcription factor activity ; GO:0003700 FNC|brain development ; GO:0007420 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0002292 CHR 1 14 DID 1 LocusLink:2292 MAP 1 14q11.2 NAM 1 forkhead box G1C ORG 1 Homo sapiens SYM 1 FOXG1C ID|HUgn0002292 DID|LocusLink:2292 ORG|Homo sapiens DBA|NA:X74144 |NA:none SYM|FOXG1C NAM|forkhead box G1C SYN|HFK3 |FHKL3 |FKHL3 |HBF-3 CHR|14 PRD|forkhead (Drosophila)-like 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=386249 |http://www.gdb.org/gdb-bin/genera/accno?GDB:375755 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=X74144 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=X74144 DBL|UNIGENE:Hs.386249 |OMIM:605524 MAP|14q11.2 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0002294 CHR 1 16 DID 1 LocusLink:2294 MAP 1 16q24 NAM 1 forkhead box F1 ORG 1 Homo sapiens SYM 1 FOXF1 ID|HUgn0002294 DID|LocusLink:2294 ORG|Homo sapiens RSQ|REFSEQ:NM_001451 RPA|REFPROT:NP_001442 DBA|XM:NM_001451 |NA:AF085343 |NA:U13219 |NA:none PAC|XP:NP_001442 SYM|FOXF1 NAM|forkhead box F1 SYN|FKHL5 |FREAC1 FNC|forkhead box F1 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct forkhead domain. The specific function of this gene has not yet been |determined; however, it may play a role in the regulation of pulmonary genes as |well as embryonic development. CHR|16 PRD|forkhead (Drosophila)-like 5 |forkhead-related activator 1 |Forkhead, drosophila, homolog-like 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155591 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2294[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450216 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001451 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001451 DBL|UNIGENE:Hs.155591 |OMIM:601089 |SNP:2294 MAP|16q24 ENZ|protein binding ; GO:0005515 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == Foxf1a; score == 591; expect == 1e-169; MEOW:MGgn0004399 (94%) |species == Human; gene == FOXF2; score == 285; expect == 3.5e-77; MEOW:HUgn0002295 (55%) |species == Mosquito; score == 146; expect == 2.5e-35; MEOW:AGgn0013579 (70%) |species == Fruitfly; gene == slp1; score == 130; expect == 9.6e-31; MEOW:FBgn0003430 (53%) } # EOR GENR { RETE|ID 1 HUgn0002295 CHR 1 6 DID 1 LocusLink:2295 MAP 1 6p25.3 NAM 1 forkhead box F2 ORG 1 Homo sapiens SYM 1 FOXF2 ID|HUgn0002295 DID|LocusLink:2295 ORG|Homo sapiens RSQ|REFSEQ:NM_001452 RPA|REFPROT:NP_001443 DBA|XM:NM_001452 |NA:U13220 |NA:none PAC|XP:NP_001443 SYM|FOXF2 NAM|forkhead box F2 SYN|FKHL6 |FREAC2 FNC|forkhead box F2 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster |transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has |been shown to transcriptionally activate several lung-specific genes. CHR|6 PRD|forkhead (Drosophila)-like 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=44481 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2295[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450218 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001452 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001452 DBL|UNIGENE:Hs.44481 |OMIM:603250 |SNP:2295 MAP|6p25.3 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 CEL|transcription factor complex ; GO:0005667 |nucleus ; GO:0005634 HG|species == Mouse; gene == Foxf2; score == 521; expect == 4e-148; MEOW:MGgn0004401 (87%) |species == Human; gene == FOXF1; score == 285; expect == 3.5e-77; MEOW:HUgn0002294 (55%) |species == Mosquito; score == 149; expect == 3.8e-36; MEOW:AGgn0013579 (55%) |species == rat; score == 134; expect == 8.9e-32; MEOW:ref|XP_214474.1| (45%) } # EOR GENR { RETE|ID 1 HUgn0002296 CHR 1 6 DID 1 LocusLink:2296 MAP 1 6p25 NAM 1 forkhead box C1 ORG 1 Homo sapiens SYM 1 FOXC1 ID|HUgn0002296 DID|LocusLink:2296 ORG|Homo sapiens RSQ|REFSEQ:NM_001453 RPA|REFPROT:NP_001444 DBA|XM:NM_001453 |NA:AF048693 |NA:AF078096 |NA:U13221 |NA:none PAC|XP:NP_001444 SYM|FOXC1 NAM|forkhead box C1 SYN|ARA |IGDA |IHG1 |FKHL7 |IRID1 |FREAC3 FNC|forkhead box C1 |vision ; GO:0007601 |regulation of transcription, DNA-dependent ; GO:0006355 |embryogenesis and morphogenesis ; GO:0007345 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct DNA-binding forkhead domain. The specific function of this gene has |not yet been determined; however, it has been shown to play a role in the regulation |of embryonic and ocular development. Mutations in this gene cause various glaucoma |phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis |anomaly, and Axenfeld-Rieger anomaly. CHR|6 PRD|iridogoniodysgenesis type 1 |forkhead (Drosophila)-like 7 |forkhead-related activator 3 |Forkhead, drosophila, homolog-like 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348883 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2296[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001453 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001453 |http://www.geneclinics.org/query?mim=601090 DBL|UNIGENE:Hs.348883 |OMIM:601090 |SNP:2296 MAP|6p25 PHP|Anterior segment mesenchymal dysgenesis |Axenfeld anomaly |Iridogoniodysgenesis |Iris hypoplasia and glaucoma |Rieger anomaly ENZ|transcription factor activity ; GO:0003700 |transcriptional activator activity ; GO:0016563 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxc1; score == 667; expect == 0.0; MEOW:MGgn0004393 (89%) |species == Zfish; gene == foxc1a; score == 552; expect == 2e-157; MEOW:ZFgn0002131 (63%) |species == Zfish; gene == foxc1b; score == 490; expect == 5e-139; MEOW:ZFgn0002146 (53%) |species == Human; gene == FOXC2; score == 399; expect == 2e-111; MEOW:HUgn0002303 (47%) |species == Fruitfly; gene == croc; score == 209; expect == 2.2e-54; MEOW:FBgn0014143 (83%) |species == Mosquito; gene == LOC13521; score == 193; expect == 1.4e-49; MEOW:AGgn0013521 (91%) |species == Mosquito; gene == LOC22150; score == 171; expect == 7.4e-43; MEOW:AGgn0022150 (50%) |species == rat; score == 171; expect == 3.8e-43; MEOW:ref|XP_230740.2| (46%) |species == rat; score == 161; expect == 1.1e-39; MEOW:ref|XP_346677.1| (64%) |species == rat; score == 158; expect == 5.3e-39; MEOW:ref|NP_036874.1| (38%) |species == rat; score == 157; expect == 1.1e-38; MEOW:ref|NP_058773.1| (65%) |species == rat; score == 147; expect == 1.5e-35; MEOW:ref|NP_620264.1| (64%) |species == rat; score == 146; expect == 2.1e-35; MEOW:ref|XP_220287.1| (47%) |species == Worm; gene == pha-4; score == 144; expect == 1.5e-34; MEOW:CEgn0002363 (54%) |species == rat; score == 144; expect == 1.3e-34; MEOW:ref|XP_233422.2| (54%) |species == rat; score == 144; expect == 1.7e-34; MEOW:ref|XP_341950.1| (45%) |species == rat; score == 142; expect == 3.8e-34; MEOW:ref|XP_233428.2| (61%) |species == rat; score == 142; expect == 6.5e-34; MEOW:ref|XP_345145.1| (58%) |species == rat; score == 140; expect == 2.0e-33; MEOW:ref|NP_036692.1| (66%) |species == rat; score == 139; expect == 1.9e-33; MEOW:ref|XP_345950.1| (40%) |species == rat; score == 139; expect == 3.3e-33; MEOW:ref|XP_345976.1| (55%) |species == Worm; gene == lin-31; score == 132; expect == 1.6e-31; MEOW:CEgn0001848 (60%) } # EOR GENR { RETE|ID 1 HUgn0002297 CHR 1 5 DID 1 LocusLink:2297 MAP 1 5q12-q13 NAM 1 forkhead box D1 ORG 1 Homo sapiens SYM 1 FOXD1 ID|HUgn0002297 DID|LocusLink:2297 ORG|Homo sapiens RSQ|REFSEQ:NM_004472 RPA|REFPROT:NP_004463 DBA|XM:NM_004472 |NA:U59831 |NA:U13222 |NA:U59832 |NA:none PAC|XP:NP_004463 SYM|FOXD1 NAM|forkhead box D1 SYN|FKHL8 |FREAC4 FNC|forkhead box D1 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This intronless gene belongs to the forkhead family of transcription factors which |is characterized by a distinct forkhead domain. The specific function of this gene |has not yet been determined; however, it may play a role in tumor formation. CHR|5 PRD|forkhead (Drosophila)-like 8 |forkhead-related activator 4 |Forkhead, drosophila, homolog-like 8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=96028 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2297[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450222 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004472 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004472 DBL|UNIGENE:Hs.96028 |OMIM:601091 |SNP:2297 MAP|5q12-q13 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 231; expect == 6.6e-61; MEOW:ref|XP_345145.1| (97%) |species == Human; gene == FOXD2; score == 230; expect == 1.4e-60; MEOW:HUgn0002306 (96%) |species == Mouse; gene == Foxd1; score == 230; expect == 7.3e-61; MEOW:MGgn0004395 (97%) |species == Mouse; gene == Foxd2; score == 230; expect == 9.5e-61; MEOW:MGgn0004396 (96%) |species == rat; score == 230; expect == 1.5e-60; MEOW:ref|XP_233422.2| (96%) |species == Zfish; gene == foxd1; score == 217; expect == 6.5e-58; MEOW:ZFgn0000450 (98%) |species == Zfish; gene == foxd3; score == 214; expect == 4.7e-56; MEOW:ZFgn0000023 (58%) |species == Human; gene == FOXD3; score == 208; expect == 4.5e-54; MEOW:HUgn0027022 (93%) |species == Mouse; gene == Foxd3; score == 208; expect == 3.0e-54; MEOW:MGgn0004397 (93%) |species == Human; gene == LOC286380; score == 200; expect == 1.2e-51; MEOW:HUgn0286380 (72%) |species == Human; gene == FOXD4L1; score == 198; expect == 3.9e-51; MEOW:HUgn0200350 (82%) |species == Human; gene == FOXD4b; score == 198; expect == 6.9e-51; MEOW:HUgn0349334 (73%) |species == Human; gene == LOC375741; score == 198; expect == 5.9e-51; MEOW:HUgn0375741 (73%) |species == Fruitfly; gene == fd59A; score == 197; expect == 1.0e-50; MEOW:FBgn0004896 (83%) |species == Zfish; gene == foxd5; score == 196; expect == 1.6e-51; MEOW:ZFgn0000448 (89%) |species == Mouse; gene == Foxd4; score == 195; expect == 2.6e-50; MEOW:MGgn0004398 (91%) |species == Mosquito; gene == LOC10531; score == 194; expect == 3.8e-50; MEOW:AGgn0010531 (88%) |species == Human; gene == FOXD4; score == 190; expect == 1.2e-48; MEOW:HUgn0002298 (70%) |species == Worm; gene == unc-130; score == 179; expect == 1.9e-45; MEOW:CEgn0003007 (77%) } # EOR GENR { RETE|ID 1 HUgn0002298 CHR 1 9 DID 1 LocusLink:2298 MAP 1 9p11-q11 NAM 1 forkhead box D4 ORG 1 Homo sapiens SYM 1 FOXD4 ID|HUgn0002298 DID|LocusLink:2298 ORG|Homo sapiens DBA|XM:XM_095746 |NA:U13223 |NA:none PAC|XP:XP_095746 SYM|FOXD4 NAM|forkhead box D4 SYN|FKHL9 |FREAC5 CHR|9 PRD|forkhead-like 9 |myeloid factor-alpha |forkhead-related activator 5 |forkhead, Drosophila, homolog-like 9 |forkhead-related transcription factor 5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443709 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450225 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U13223 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U13223 DBL|UNIGENE:Hs.443709 |OMIM:601092 |SNP:2298 MAP|9p11-q11 ENZ|transcription factor activity ; GO:0003700 FNC|regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CEL|nucleus ; GO:0005634 HG|species == Human; gene == LOC286380; score == 532; expect == 1e-151; MEOW:HUgn0286380 (94%) |species == Human; gene == LOC375741; score == 526; expect == 1e-149; MEOW:HUgn0375741 (93%) |species == Human; gene == FOXD4b; score == 513; expect == 1e-145; MEOW:HUgn0349334 (93%) |species == Mouse; gene == Foxd4; score == 289; expect == 2.5e-78; MEOW:MGgn0004398 (50%) |species == Zfish; gene == foxd3; score == 199; expect == 1.3e-52; MEOW:ZFgn0000023 (89%) |species == Zfish; gene == foxd5; score == 199; expect == 1.7e-51; MEOW:ZFgn0000448 (56%) |species == rat; score == 195; expect == 4.9e-50; MEOW:ref|XP_233422.2| (60%) |species == Zfish; gene == foxd1; score == 193; expect == 1.4e-49; MEOW:ZFgn0000450 (89%) |species == Fruitfly; gene == fd59A; score == 188; expect == 4.5e-48; MEOW:FBgn0004896 (68%) |species == rat; score == 186; expect == 1.9e-47; MEOW:ref|XP_345145.1| (87%) |species == Mosquito; gene == LOC10531; score == 183; expect == 1.1e-47; MEOW:AGgn0010531 (82%) |species == Worm; gene == unc-130; score == 168; expect == 3.3e-42; MEOW:CEgn0003007 (73%) |species == rat; score == 163; expect == 2.0e-40; MEOW:ref|XP_233428.2| (55%) |species == rat; score == 158; expect == 5.0e-39; MEOW:ref|NP_620264.1| (57%) |species == Mosquito; score == 147; expect == 8.4e-36; MEOW:AGgn0003064 (62%) |species == Mosquito; gene == LOC13521; score == 147; expect == 6.4e-36; MEOW:AGgn0013521 (62%) |species == Mosquito; gene == LOC24098; score == 147; expect == 5.4e-36; MEOW:AGgn0024098 (62%) } # EOR GENR { RETE|ID 1 HUgn0002299 CHR 1 5 DID 1 LocusLink:2299 MAP 1 5q34 NAM 1 forkhead box I1 ORG 1 Homo sapiens SYM 1 FOXI1 ID|HUgn0002299 DID|LocusLink:2299 ORG|Homo sapiens RSQ|REFSEQ:NM_012188 |REFSEQ:NM_144769 RPA|REFPROT:NP_036320 |REFPROT:NP_658982 DBA|XM:NM_012188 |XM:NM_144769 |NA:U13224 |NA:BC029778 |NA:L13203 |NA:none PAC|XP:NP_036320 |XP:NP_658982 SYM|FOXI1 NAM|forkhead box I1 SYN|HFH3 |FKHL10 |FREAC6 FNC|forkhead box I1 isoform a |forkhead box I1 isoform b |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct forkhead domain. The specific function of this gene has not yet been |determined; however, it is possible that this gene plays an important role in the |development of the cochlea and vestibulum, as well as embryogenesis. Mutations in |this gene may be associated with the common cavity phenotype. Two transcript variants |encoding different isoforms have been found for this gene. CHR|5 PRD|HNF-3/fork-head homolog-3 |forkhead-related activator 6 |forkhead (Drosophila)-like 10 |Forkhead, drosophila, homolog-like 10 |hepatocyte nuclear factor 3 forkhead homolog 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=87236 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2299[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450228 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012188 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012188 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=87236 DBL|UNIGENE:Hs.87236 |OMIM:601093 |SNP:2299 MAP|5q34 ENZ|DNA bending activity ; GO:0008301 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxi1; score == 617; expect == 4e-177; MEOW:MGgn0004340 (83%) |species == rat; score == 615; expect == 2e-176; MEOW:ref|XP_220287.1| (82%) |species == Human; gene == LOC344167; score == 231; expect == 6.0e-61; MEOW:HUgn0344167 (47%) |species == Zfish; gene == foxc1b; score == 150; expect == 1.3e-36; MEOW:ZFgn0002146 (34%) |species == Zfish; gene == foxc1a; score == 144; expect == 4.2e-36; MEOW:ZFgn0002131 (34%) |species == Mosquito; gene == LOC13521; score == 141; expect == 2.9e-34; MEOW:AGgn0013521 (62%) |species == Fruitfly; gene == croc; score == 141; expect == 1.3e-33; MEOW:FBgn0014143 (57%) |species == Zfish; gene == foxg1; score == 135; expect == 5.6e-32; MEOW:ZFgn0000525 (56%) |species == Zfish; gene == foxd3; score == 134; expect == 3.3e-33; MEOW:ZFgn0000023 (64%) |species == Zfish; gene == foxd1; score == 134; expect == 3.3e-33; MEOW:ZFgn0000450 (64%) |species == Mosquito; gene == LOC13200; score == 133; expect == 1.0e-31; MEOW:AGgn0013200 (64%) |species == Fruitfly; gene == slp1; score == 133; expect == 1.5e-31; MEOW:FBgn0003430 (58%) |species == Mosquito; gene == LOC25119; score == 131; expect == 3.9e-31; MEOW:AGgn0025119 (65%) |species == Worm; gene == unc-130; score == 131; expect == 3.7e-31; MEOW:CEgn0003007 (63%) |species == Mosquito; gene == LOC10531; score == 130; expect == 6.7e-31; MEOW:AGgn0010531 (63%) |species == Zfish; gene == foxd5; score == 128; expect == 2.4e-31; MEOW:ZFgn0000448 (62%) } # EOR GENR { RETE|ID 1 HUgn0002300 CHR 1 16 DID 1 LocusLink:2300 MAP 1 16q24 NAM 1 forkhead box L1 ORG 1 Homo sapiens SYM 1 FOXL1 ID|HUgn0002300 DID|LocusLink:2300 ORG|Homo sapiens RSQ|REFSEQ:NM_005250 RPA|REFPROT:NP_005241 DBA|XM:NM_005250 |NA:AF315075 |NA:U13225 |NA:none PAC|XP:NP_005241 SYM|FOXL1 NAM|forkhead box L1 SYN|FKH6 |FKHL11 |FREAC7 FNC|forkhead box L1 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|16 PRD|forkhead (Drosophila)-like 11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=381273 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2300[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:450231 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005250 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005250 DBL|UNIGENE:Hs.381273 |OMIM:603252 |SNP:2300 MAP|16q24 ENZ|DNA bending activity ; GO:0008301 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxl1; score == 313; expect == 1.1e-85; MEOW:MGgn0004406 (65%) |species == Human; gene == FOXC2; score == 168; expect == 7.4e-42; MEOW:HUgn0002303 (43%) |species == Zfish; gene == foxc1b; score == 166; expect == 2.3e-41; MEOW:ZFgn0002146 (40%) |species == Human; gene == FOXC1; score == 163; expect == 1.5e-40; MEOW:HUgn0002296 (78%) |species == Zfish; gene == foxc1a; score == 161; expect == 3.9e-41; MEOW:ZFgn0002131 (77%) |species == rat; score == 158; expect == 3.4e-39; MEOW:ref|XP_230740.2| (60%) |species == Fruitfly; gene == croc; score == 156; expect == 2.9e-38; MEOW:FBgn0014143 (56%) |species == Human; gene == FKHL18; score == 156; expect == 2.2e-38; MEOW:HUgn0002307 (43%) |species == Mosquito; gene == LOC13521; score == 154; expect == 5.0e-38; MEOW:AGgn0013521 (73%) |species == Human; gene == LOC344167; score == 153; expect == 1.6e-37; MEOW:HUgn0344167 (65%) |species == Fruitfly; gene == fd64A; score == 151; expect == 6.2e-37; MEOW:FBgn0004895 (61%) |species == Human; gene == FOXL2; score == 151; expect == 7.6e-37; MEOW:HUgn0000668 (67%) |species == Human; gene == FOXE1; score == 151; expect == 7.6e-37; MEOW:HUgn0002304 (73%) |species == rat; score == 151; expect == 7.7e-37; MEOW:ref|NP_620264.1| (73%) |species == rat; score == 151; expect == 6.4e-37; MEOW:ref|XP_220287.1| (56%) |species == rat; score == 151; expect == 6.5e-37; MEOW:ref|XP_345976.1| (66%) |species == Zfish; gene == foxb1.1; score == 150; expect == 8.0e-37; MEOW:ZFgn0000385 (54%) |species == Zfish; gene == foxa1; score == 148; expect == 4.9e-36; MEOW:ZFgn0000386 (59%) |species == Human; gene == FOXI1; score == 147; expect == 1.2e-35; MEOW:HUgn0002299 (56%) |species == Fruitfly; gene == fkh; score == 144; expect == 1.2e-34; MEOW:FBgn0000659 (54%) |species == Mosquito; score == 143; expect == 1.7e-35; MEOW:AGgn0020366 (74%) |species == Human; gene == FOXE3; score == 142; expect == 3.5e-34; MEOW:HUgn0002301 (70%) |species == Human; gene == FOXB1; score == 142; expect == 3.5e-34; MEOW:HUgn0027023 (65%) |species == rat; score == 142; expect == 3.6e-34; MEOW:ref|XP_233428.2| (70%) |species == rat; score == 142; expect == 3.1e-34; MEOW:ref|XP_341950.1| (43%) |species == rat; score == 142; expect == 3.6e-34; MEOW:ref|XP_345950.1| (65%) |species == Mosquito; gene == LOC24098; score == 141; expect == 2.6e-34; MEOW:AGgn0024098 (67%) |species == Zfish; gene == foxa2; score == 141; expect == 7.5e-34; MEOW:ZFgn0000135 (62%) |species == Zfish; gene == foxb1.2; score == 141; expect == 2.4e-35; MEOW:ZFgn0000555 (65%) |species == Mosquito; gene == LOC13200; score == 140; expect == 7.5e-34; MEOW:AGgn0013200 (64%) |species == Zfish; gene == foxd3; score == 140; expect == 5.4e-35; MEOW:ZFgn0000023 (66%) |species == Mosquito; gene == LOC10531; score == 139; expect == 1.7e-33; MEOW:AGgn0010531 (65%) |species == Fruitfly; gene == fd59A; score == 139; expect == 1.0e-33; MEOW:FBgn0004896 (67%) |species == Mosquito; score == 138; expect == 3.4e-33; MEOW:AGgn0003064 (39%) |species == Human; gene == FOXG1B; score == 138; expect == 7.7e-33; MEOW:HUgn0002290 (58%) |species == Zfish; gene == foxd1; score == 138; expect == 2.1e-34; MEOW:ZFgn0000450 (66%) |species == Worm; gene == pha-4; score == 137; expect == 1.1e-32; MEOW:CEgn0002363 (55%) |species == Fruitfly; gene == fd96Cb; score == 137; expect == 4.7e-33; MEOW:FBgn0004898 (62%) |species == rat; score == 137; expect == 6.7e-33; MEOW:ref|XP_233422.2| (66%) |species == Fruitfly; gene == slp1; score == 136; expect == 2.3e-32; MEOW:FBgn0003430 (57%) |species == Fruitfly; gene == fd96Ca; score == 136; expect == 1.1e-32; MEOW:FBgn0004897 (65%) |species == rat; score == 136; expect == 2.0e-32; MEOW:ref|XP_345145.1| (65%) |species == rat; score == 136; expect == 2.6e-32; MEOW:ref|XP_346677.1| (64%) |species == Mosquito; gene == LOC22150; score == 135; expect == 1.9e-32; MEOW:AGgn0022150 (66%) |species == Mosquito; gene == LOC25119; score == 135; expect == 1.9e-32; MEOW:AGgn0025119 (63%) |species == Zfish; gene == foxg1; score == 135; expect == 2.3e-33; MEOW:ZFgn0000525 (67%) |species == rat; score == 135; expect == 4.7e-32; MEOW:ref|XP_345002.1| (62%) |species == Zfish; gene == foxd5; score == 134; expect == 5.1e-33; MEOW:ZFgn0000448 (63%) |species == rat; score == 134; expect == 1.1e-31; MEOW:ref|NP_036692.1| (63%) |species == Worm; gene == unc-130; score == 132; expect == 1.9e-31; MEOW:CEgn0003007 (60%) |species == Fruitfly; gene == slp2; score == 132; expect == 1.6e-31; MEOW:FBgn0004567 (65%) |species == rat; score == 132; expect == 1.1e-31; MEOW:ref|XP_344084.1| (60%) |species == Worm; gene == lin-31; score == 130; expect == 6.2e-31; MEOW:CEgn0001848 (63%) } # EOR GENR { RETE|ID 1 HUgn0002301 CHR 1 1 DID 1 LocusLink:2301 MAP 1 1p32 NAM 1 forkhead box E3 ORG 1 Homo sapiens SYM 1 FOXE3 ID|HUgn0002301 DID|LocusLink:2301 ORG|Homo sapiens RSQ|REFSEQ:NM_012186 RPA|REFPROT:NP_036318 DBA|XM:NM_012186 |NA:U42990 |NA:AF275722 |NA:none PAC|XP:NP_036318 SYM|FOXE3 NAM|forkhead box E3 SYN|ASMD |FKHL12 |FREAC8 FNC|forkhead box E3 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 CHR|1 PRD|forkhead (Drosophila)-like 12 |Forkhead, drosophila, homolog-like 12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=112968 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2301[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:581099 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012186 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012186 |http://www.geneclinics.org/query?mim=601094 DBL|UNIGENE:Hs.112968 |OMIM:601094 |SNP:2301 MAP|1p32 PHP|Anterior segment mesenchymal dysgenesis ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxe3; score == 273; expect == 6.0e-74; MEOW:MGgn0013652 (82%) |species == rat; score == 227; expect == 7.6e-60; MEOW:ref|XP_233428.2| (71%) |species == Human; gene == FOXE1; score == 191; expect == 6.0e-49; MEOW:HUgn0002304 (81%) |species == rat; score == 191; expect == 6.0e-49; MEOW:ref|NP_620264.1| (81%) |species == Human; gene == FOXD1; score == 166; expect == 3.3e-41; MEOW:HUgn0002297 (74%) |species == Zfish; gene == foxd1; score == 166; expect == 1.1e-42; MEOW:ZFgn0000450 (75%) |species == Human; gene == FOXD2; score == 165; expect == 3.5e-41; MEOW:HUgn0002306 (75%) |species == Human; gene == FOXD3; score == 163; expect == 1.3e-40; MEOW:HUgn0027022 (73%) |species == Zfish; gene == foxd3; score == 163; expect == 7.1e-42; MEOW:ZFgn0000023 (73%) |species == Fruitfly; gene == fd59A; score == 162; expect == 1.7e-40; MEOW:FBgn0004896 (73%) |species == Human; gene == FOXD4L1; score == 162; expect == 2.4e-40; MEOW:HUgn0200350 (55%) |species == Human; gene == LOC286380; score == 162; expect == 2.1e-40; MEOW:HUgn0286380 (54%) |species == Human; gene == FOXD4b; score == 162; expect == 2.5e-40; MEOW:HUgn0349334 (54%) |species == Human; gene == LOC375741; score == 162; expect == 2.1e-40; MEOW:HUgn0375741 (54%) |species == Zfish; gene == foxd5; score == 161; expect == 6.7e-40; MEOW:ZFgn0000448 (53%) |species == Mosquito; gene == LOC10531; score == 159; expect == 1.4e-39; MEOW:AGgn0010531 (70%) |species == Human; gene == FOXD4; score == 158; expect == 5.0e-39; MEOW:HUgn0002298 (53%) |species == Human; gene == FOXC2; score == 155; expect == 6.4e-38; MEOW:HUgn0002303 (38%) |species == Zfish; gene == foxc1a; score == 152; expect == 9.6e-39; MEOW:ZFgn0002131 (66%) |species == Worm; gene == unc-130; score == 151; expect == 7.2e-37; MEOW:CEgn0003007 (64%) |species == Zfish; gene == foxc1b; score == 150; expect == 6.2e-38; MEOW:ZFgn0002146 (65%) |species == Fruitfly; gene == fd96Cb; score == 149; expect == 2.0e-36; MEOW:FBgn0004898 (40%) |species == Fruitfly; gene == croc; score == 148; expect == 2.0e-36; MEOW:FBgn0014143 (65%) |species == Mosquito; gene == LOC13521; score == 146; expect == 7.3e-36; MEOW:AGgn0013521 (63%) |species == Mosquito; score == 144; expect == 4.7e-35; MEOW:AGgn0003064 (64%) |species == Mosquito; gene == LOC24098; score == 144; expect == 4.7e-35; MEOW:AGgn0024098 (65%) |species == Zfish; gene == foxb1.1; score == 144; expect == 2.6e-36; MEOW:ZFgn0000385 (61%) |species == Zfish; gene == foxb1.2; score == 144; expect == 2.6e-36; MEOW:ZFgn0000555 (61%) |species == Fruitfly; gene == fd96Ca; score == 143; expect == 6.4e-35; MEOW:FBgn0004897 (64%) |species == Mosquito; gene == LOC22150; score == 139; expect == 8.9e-34; MEOW:AGgn0022150 (62%) |species == Fruitfly; gene == fkh; score == 139; expect == 1.2e-33; MEOW:FBgn0000659 (61%) |species == Zfish; gene == foxa2; score == 137; expect == 4.2e-34; MEOW:ZFgn0000135 (59%) |species == Zfish; gene == foxa; score == 137; expect == 5.4e-34; MEOW:ZFgn0000384 (56%) |species == Zfish; gene == foxa1; score == 137; expect == 5.4e-34; MEOW:ZFgn0000386 (60%) |species == Fruitfly; gene == fd64A; score == 133; expect == 8.6e-32; MEOW:FBgn0004895 (57%) |species == Mosquito; gene == LOC13200; score == 132; expect == 1.1e-31; MEOW:AGgn0013200 (60%) } # EOR GENR { RETE|ID 1 HUgn0002302 CHR 1 17 DID 1 LocusLink:2302 MAP 1 17q22-17q25 NAM 1 forkhead box J1 ORG 1 Homo sapiens SYM 1 FOXJ1 ID|HUgn0002302 DID|LocusLink:2302 ORG|Homo sapiens RSQ|REFSEQ:NM_001454 RPA|REFPROT:NP_001445 DBA|XM:NM_001454 |NA:X99350 |NA:BC046460 |NA:U69537 |NA:X99349 |NA:none PAC|XP:NP_001445 SYM|FOXJ1 NAM|forkhead box J1 SYN|HFH4 |HFH-4 |FKHL13 FNC|forkhead box J1 |regulation of transcription, DNA-dependent ; GO:0006355 |spermatogenesis ; GO:0007283 CHR|17 PRD|forkhead (Drosophila)-like 13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370041 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2302[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4627385 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001454 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001454 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370041 DBL|UNIGENE:Hs.370041 |OMIM:602291 |SNP:2302 MAP|17q22-17q25 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxj1; score == 675; expect == 0.0; MEOW:MGgn0004404 (86%) } # EOR GENR { RETE|ID 1 HUgn0002303 CHR 1 16 DID 1 LocusLink:2303 MAP 1 16q22-16q24 NAM 1 forkhead box C2 (MFH-1, mesenchyme forkhead 1) ORG 1 Homo sapiens SYM 1 FOXC2 ID|HUgn0002303 DID|LocusLink:2303 ORG|Homo sapiens RSQ|REFSEQ:NM_005251 RPA|REFPROT:NP_005242 DBA|XM:NM_005251 |NA:Y08223 |NA:none PAC|XP:NP_005242 SYM|FOXC2 NAM|forkhead box C2 (MFH-1, mesenchyme forkhead 1) SYN|MFH1 |MFH-1 |FKHL14 FNC|forkhead box C2 |mesoderm development ; GO:0007498 |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct DNA-binding forkhead domain. The specific function of this gene has |not yet been determined; however, it may play a role in the development of mesenchymal |tissues. CHR|16 PRD|MFH-1,mesenchyme forkhead 1 |forkhead (Drosophila)-like 14 |forkhead, Drosophila, homolog-like 14 |forkhead (Drosophila)-like 14 (MFH-1, mesenchyme forkhead 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436448 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2303[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5592613 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005251 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005251 |http://www.geneclinics.org/query?mim=602402 DBL|UNIGENE:Hs.436448 |OMIM:602402 |SNP:2303 MAP|16q22-16q24 PHP|Lymphedema and ptosis |Lymphedema, hereditary II |Lymphedema-distichiasis syndrome |Yellow nail syndrome ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxc2; score == 785; expect == 0.0; MEOW:MGgn0004394 (85%) |species == Zfish; gene == foxc1a; score == 406; expect == 6e-115; MEOW:ZFgn0002131 (49%) |species == Human; gene == FOXC1; score == 399; expect == 2e-111; MEOW:HUgn0002296 (47%) |species == Zfish; gene == foxc1b; score == 337; expect == 4.7e-94; MEOW:ZFgn0002146 (44%) |species == Fruitfly; gene == croc; score == 209; expect == 1.3e-54; MEOW:FBgn0014143 (53%) |species == Mosquito; gene == LOC13521; score == 208; expect == 3.6e-54; MEOW:AGgn0013521 (79%) |species == rat; score == 173; expect == 2.3e-43; MEOW:ref|XP_346677.1| (42%) |species == Mosquito; gene == LOC22150; score == 167; expect == 1.1e-41; MEOW:AGgn0022150 (62%) |species == rat; score == 166; expect == 2.1e-41; MEOW:ref|XP_230740.2| (36%) |species == rat; score == 161; expect == 6.3e-40; MEOW:ref|NP_036874.1| (53%) |species == rat; score == 159; expect == 4.0e-39; MEOW:ref|XP_233422.2| (69%) |species == rat; score == 157; expect == 8.4e-39; MEOW:ref|NP_058773.1| (66%) |species == rat; score == 157; expect == 1.3e-38; MEOW:ref|NP_620264.1| (47%) |species == rat; score == 157; expect == 7.1e-39; MEOW:ref|XP_345145.1| (68%) |species == rat; score == 150; expect == 1.6e-36; MEOW:ref|XP_233428.2| (42%) |species == rat; score == 149; expect == 3.6e-36; MEOW:ref|XP_345002.1| (45%) |species == rat; score == 148; expect == 8.0e-36; MEOW:ref|XP_220287.1| (41%) |species == Worm; gene == pha-4; score == 147; expect == 1.4e-35; MEOW:CEgn0002363 (40%) |species == Worm; gene == unc-130; score == 142; expect == 3.9e-34; MEOW:CEgn0003007 (55%) |species == rat; score == 142; expect == 4.1e-34; MEOW:ref|NP_036692.1| (68%) |species == rat; score == 142; expect == 3.1e-34; MEOW:ref|XP_341950.1| (66%) |species == rat; score == 139; expect == 1.9e-33; MEOW:ref|XP_345976.1| (62%) |species == Worm; gene == lin-31; score == 136; expect == 2.1e-32; MEOW:CEgn0001848 (50%) } # EOR GENR { RETE|ID 1 HUgn0002304 CHR 1 9 DID 1 LocusLink:2304 MAP 1 9q22 NAM 1 forkhead box E1 (thyroid transcription factor 2) ORG 1 Homo sapiens SYM 1 FOXE1 ID|HUgn0002304 DID|LocusLink:2304 ORG|Homo sapiens RSQ|REFSEQ:NM_004473 RPA|REFPROT:NP_004464 DBA|XM:NM_004473 |NA:Y13386 |NA:U89995 |NA:none PAC|XP:NP_004464 SYM|FOXE1 NAM|forkhead box E1 (thyroid transcription factor 2) SYN|TTF2 |TITF2 |TTF-2 |FKHL15 FNC|forkhead box E1 |ectoderm development ; GO:0007398 |regulation of transcription, DNA-dependent ; GO:0006355 |embryogenesis and morphogenesis ; GO:0007345 |transcription from Pol II promoter ; GO:0006366 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|This intronless gene belongs to the forkhead family of transcription factors, which |is characterized by a distinct forkhead domain. This gene functions as a thyroid |transcription factor which likely plays a crucial role in thyroid morphogenesis. |Mutations in this gene are associated with congenital hypothyroidism and cleft palate |with thyroid dysgenesis. The map localization of this gene suggests it may also |be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy |type I. CHR|9 PRD|forkhead (Drosophila)-like 15 |thyroid transcription factor-2 |Forkhead, drosophila, homolog-like 15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159234 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2304[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5592614 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004473 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004473 |http://www.geneclinics.org/query?mim=602617 DBL|UNIGENE:Hs.159234 |OMIM:602617 |SNP:2304 |UWCM:5592614.html MAP|9q22 PHP|Bamforth-Lazarus syndrome ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 344; expect == 6.8e-95; MEOW:ref|NP_620264.1| (80%) |species == Mouse; gene == Foxe3; score == 207; expect == 5.3e-54; MEOW:MGgn0013652 (68%) |species == Human; gene == FOXE3; score == 191; expect == 6.0e-49; MEOW:HUgn0002301 (81%) |species == Zfish; gene == foxd3; score == 166; expect == 1.5e-41; MEOW:ZFgn0000023 (60%) |species == Zfish; gene == foxd5; score == 164; expect == 4.6e-41; MEOW:ZFgn0000448 (51%) |species == Human; gene == FOXD4L1; score == 163; expect == 1.8e-40; MEOW:HUgn0200350 (40%) |species == Human; gene == LOC286380; score == 160; expect == 1.4e-39; MEOW:HUgn0286380 (58%) |species == Human; gene == FOXD4b; score == 160; expect == 1.6e-39; MEOW:HUgn0349334 (58%) |species == Human; gene == LOC375741; score == 160; expect == 1.4e-39; MEOW:HUgn0375741 (58%) |species == Fruitfly; gene == fd59A; score == 158; expect == 6.8e-39; MEOW:FBgn0004896 (70%) |species == Human; gene == FOXD4; score == 158; expect == 6.5e-39; MEOW:HUgn0002298 (58%) |species == Mosquito; gene == LOC10531; score == 157; expect == 6.4e-40; MEOW:AGgn0010531 (70%) |species == Human; gene == FOXC2; score == 157; expect == 1.7e-38; MEOW:HUgn0002303 (43%) |species == Worm; gene == unc-130; score == 151; expect == 5.5e-37; MEOW:CEgn0003007 (63%) |species == Zfish; gene == foxb1.1; score == 151; expect == 4.7e-37; MEOW:ZFgn0000385 (61%) |species == Zfish; gene == foxb1.2; score == 151; expect == 6.1e-37; MEOW:ZFgn0000555 (67%) |species == Zfish; gene == foxc1b; score == 150; expect == 1.3e-36; MEOW:ZFgn0002146 (63%) |species == Fruitfly; gene == fd96Cb; score == 149; expect == 1.2e-36; MEOW:FBgn0004898 (41%) |species == Mosquito; gene == LOC24098; score == 148; expect == 1.9e-36; MEOW:AGgn0024098 (66%) |species == Fruitfly; gene == croc; score == 147; expect == 1.8e-35; MEOW:FBgn0014143 (56%) |species == Zfish; gene == foxc1a; score == 147; expect == 1.7e-35; MEOW:ZFgn0002131 (64%) |species == Zfish; gene == foxa; score == 141; expect == 6.0e-34; MEOW:ZFgn0000384 (57%) |species == Zfish; gene == foxa3; score == 139; expect == 3.1e-33; MEOW:ZFgn0000141 (57%) |species == Fruitfly; gene == fd96Ca; score == 136; expect == 1.6e-32; MEOW:FBgn0004897 (67%) |species == Zfish; gene == foxd1; score == 136; expect == 8.6e-34; MEOW:ZFgn0000450 (68%) |species == Mosquito; score == 135; expect == 2.9e-32; MEOW:AGgn0003064 (66%) |species == Mosquito; gene == LOC25119; score == 135; expect == 2.1e-32; MEOW:AGgn0025119 (46%) |species == Mosquito; score == 133; expect == 1.3e-32; MEOW:AGgn0020366 (68%) |species == Fruitfly; gene == fd64A; score == 133; expect == 1.3e-31; MEOW:FBgn0004895 (63%) |species == Mosquito; gene == LOC13521; score == 132; expect == 2.3e-31; MEOW:AGgn0013521 (61%) |species == Fruitfly; gene == slp2; score == 132; expect == 3.0e-31; MEOW:FBgn0004567 (56%) |species == Mosquito; gene == LOC13200; score == 131; expect == 1.6e-31; MEOW:AGgn0013200 (66%) } # EOR GENR { RETE|ID 1 HUgn0002305 CHR 1 12 DID 1 LocusLink:2305 MAP 1 12p13 NAM 1 forkhead box M1 ORG 1 Homo sapiens SYM 1 FOXM1 ID|HUgn0002305 DID|LocusLink:2305 ORG|Homo sapiens RSQ|REFSEQ:NM_021953 RPA|REFPROT:NP_068772 DBA|XM:NM_021953 |NA:BC006192 |NA:BC006529 |NA:BC012863 |NA:BC035437 |NA:BT006986 |NA:L16783 |NA:U74612 |NA:U74613 |NA:U83113 |NA:none PAC|XP:NP_068772 SYM|FOXM1 NAM|forkhead box M1 SYN|MPP2 |HFH11 |HNF-3 |INS-1 |MPP-2 |FKHL16 |FOXM1B |HFH-11 |TRIDENT |MPHOSPH2 FNC|forkhead box M1 |regulation of transcription, DNA-dependent ; GO:0006355 |response to oxidative stress ; GO:0006979 |transcription from Pol II promoter ; GO:0006366 CHR|12 PRD|trident |forkhead (Drosophila)-like 16 |Forkhead, drosophila, homolog-like 16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=479302 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511941 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2305[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6383034 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021953 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021953 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=479302 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511941 DBL|UNIGENE:Hs.479302 |UNIGENE:Hs.511941 |OMIM:602341 |SNP:2305 MAP|12p13 ENZ|RNA polymerase II transcription factor activity ; GO:0003702 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1123; expect == 0.0; MEOW:ref|NP_113821.1| (79%) |species == Mouse; gene == Foxm1; score == 1110; expect == 0.0; MEOW:MGgn0004407 (79%) } # EOR GENR { RETE|ID 1 HUgn0002306 CHR 1 1 DID 1 LocusLink:2306 MAP 1 1p34-p32 NAM 1 forkhead box D2 ORG 1 Homo sapiens SYM 1 FOXD2 ID|HUgn0002306 DID|LocusLink:2306 ORG|Homo sapiens RSQ|REFSEQ:NM_004474 RPA|REFPROT:NP_004465 DBA|XM:NM_004474 |NA:AF042832 |NA:none PAC|XP:NP_004465 SYM|FOXD2 NAM|forkhead box D2 SYN|FKHL17 |FREAC9 FNC|forkhead box D2 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene belongs to the forkhead family of transcription factors which is characterized |by a distinct forkhead domain. The specific function of this gene has not yet been |determined. CHR|1 PRD|freac-9 |forkhead-related activator 9 |forkhead (Drosophila)-like 17 |Forkhead, drosophila, homolog-like 17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166188 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2306[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6540613 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004474 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004474 DBL|UNIGENE:Hs.166188 |OMIM:602211 |SNP:2306 MAP|1p34-p32 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Foxd2; score == 253; expect == 2.2e-67; MEOW:MGgn0004396 (90%) |species == Human; gene == FOXD1; score == 230; expect == 1.4e-60; MEOW:HUgn0002297 (96%) |species == rat; score == 225; expect == 3.9e-59; MEOW:ref|XP_233422.2| (100%) |species == rat; score == 222; expect == 1.8e-58; MEOW:ref|XP_345145.1| (97%) |species == Mouse; gene == Foxd1; score == 221; expect == 5.0e-58; MEOW:MGgn0004395 (97%) |species == Zfish; gene == foxd1; score == 215; expect == 2.6e-56; MEOW:ZFgn0000450 (90%) |species == Zfish; gene == foxd3; score == 213; expect == 1.8e-55; MEOW:ZFgn0000023 (63%) |species == Mouse; gene == Foxd3; score == 206; expect == 2.9e-53; MEOW:MGgn0004397 (65%) |species == Human; gene == FOXD3; score == 205; expect == 3.9e-53; MEOW:HUgn0027022 (91%) |species == Human; gene == LOC286380; score == 201; expect == 6.9e-52; MEOW:HUgn0286380 (81%) |species == Human; gene == FOXD4L1; score == 199; expect == 1.8e-51; MEOW:HUgn0200350 (81%) |species == Human; gene == FOXD4b; score == 198; expect == 4.0e-51; MEOW:HUgn0349334 (82%) |species == Human; gene == LOC375741; score == 198; expect == 3.4e-51; MEOW:HUgn0375741 (82%) |species == Zfish; gene == foxd5; score == 198; expect == 2.9e-51; MEOW:ZFgn0000448 (68%) |species == Fruitfly; gene == fd59A; score == 197; expect == 1.3e-50; MEOW:FBgn0004896 (84%) |species == Mosquito; gene == LOC10531; score == 194; expect == 4.1e-50; MEOW:AGgn0010531 (88%) |species == Human; gene == FOXD4; score == 193; expect == 2.4e-49; MEOW:HUgn0002298 (80%) |species == Worm; gene == unc-130; score == 179; expect == 1.9e-45; MEOW:CEgn0003007 (77%) } # EOR GENR { RETE|ID 1 HUgn0002307 CHR 1 20 DID 1 LocusLink:2307 MAP 1 20q11.1-q11.2 NAM 1 forkhead-like 18 (Drosophila) ORG 1 Homo sapiens SYM 1 FKHL18 ID|HUgn0002307 DID|LocusLink:2307 ORG|Homo sapiens RSQ|REFSEQ:NM_004118 RPA|REFPROT:NP_004109 DBA|XM:NM_004118 |NA:AL160175 |NA:AF042831 |NA:BC013408 |NA:BT009768 |NA:none PAC|XP:NP_004109 SYM|FKHL18 NAM|forkhead-like 18 (Drosophila) SYN|FREAC10 |MGC4544 FNC|forkhead-like 18 |regulation of transcription, DNA-dependent ; GO:0006355 |development ; GO:0007275 REAB|The forkhead family of transcription factors belongs to the winged helix class of |DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead |domain and is found predominantly in aorta and kidney. The function of the encoded |protein is unknown. CHR|20 PRD|forkhead-related activator 10 |forkhead-related transcription factor 10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=149997 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2307[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6540633 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004118 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004118 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=149997 DBL|UNIGENE:Hs.149997 |OMIM:602939 |SNP:2307 MAP|20q11.1-q11.2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 506; expect == 7e-144; MEOW:ref|XP_230740.2| (76%) |species == Mouse; gene == Fkh3; score == 483; expect == 4e-137; MEOW:MGgn0004341 (75%) |species == Human; gene == FOXC1; score == 176; expect == 1.6e-44; MEOW:HUgn0002296 (44%) |species == Zfish; gene == foxc1b; score == 175; expect == 1.4e-45; MEOW:ZFgn0002146 (41%) |species == Human; gene == FOXC2; score == 170; expect == 1.9e-42; MEOW:HUgn0002303 (37%) |species == Zfish; gene == foxc1a; score == 170; expect == 4.6e-44; MEOW:ZFgn0002131 (56%) |species == Fruitfly; gene == croc; score == 159; expect == 1.5e-39; MEOW:FBgn0014143 (71%) |species == Mosquito; gene == LOC13521; score == 158; expect == 2.5e-39; MEOW:AGgn0013521 (74%) |species == Human; gene == FOXL1; score == 156; expect == 2.2e-38; MEOW:HUgn0002300 (43%) |species == Zfish; gene == foxb1.1; score == 154; expect == 5.5e-38; MEOW:ZFgn0000385 (50%) |species == Human; gene == FOXE3; score == 152; expect == 3.2e-37; MEOW:HUgn0002301 (45%) |species == Human; gene == FOXD2; score == 151; expect == 4.2e-37; MEOW:HUgn0002306 (43%) |species == Zfish; gene == foxb1.2; score == 149; expect == 1.8e-36; MEOW:ZFgn0000555 (60%) |species == Human; gene == FOXD4L1; score == 146; expect == 1.3e-35; MEOW:HUgn0200350 (44%) |species == Human; gene == FOXD1; score == 145; expect == 3.9e-35; MEOW:HUgn0002297 (36%) |species == Human; gene == LOC286380; score == 143; expect == 1.5e-34; MEOW:HUgn0286380 (51%) |species == Human; gene == LOC344167; score == 142; expect == 3.7e-34; MEOW:HUgn0344167 (63%) |species == Human; gene == FOXD4b; score == 142; expect == 2.5e-34; MEOW:HUgn0349334 (43%) |species == Zfish; gene == foxd3; score == 140; expect == 5.1e-35; MEOW:ZFgn0000023 (62%) |species == Fruitfly; gene == fd64A; score == 139; expect == 3.2e-33; MEOW:FBgn0004895 (46%) |species == Mosquito; gene == LOC13200; score == 136; expect == 1.0e-32; MEOW:AGgn0013200 (64%) |species == Fruitfly; gene == fd59A; score == 135; expect == 1.8e-32; MEOW:FBgn0004896 (61%) |species == Mosquito; gene == LOC10531; score == 134; expect == 3.9e-32; MEOW:AGgn0010531 (64%) |species == Worm; gene == lin-31; score == 134; expect == 3.7e-32; MEOW:CEgn0001848 (45%) |species == Mosquito; score == 133; expect == 1.3e-32; MEOW:AGgn0020366 (70%) |species == Worm; gene == unc-130; score == 131; expect == 5.3e-31; MEOW:CEgn0003007 (63%) |species == Mosquito; gene == LOC24098; score == 130; expect == 5.6e-31; MEOW:AGgn0024098 (40%) } # EOR GENR { RETE|ID 1 HUgn0002308 CHR 1 13 DID 1 LocusLink:2308 MAP 1 13q14.1 NAM 1 forkhead box O1A (rhabdomyosarcoma) ORG 1 Homo sapiens SYM 1 FOXO1A ID|HUgn0002308 DID|LocusLink:2308 ORG|Homo sapiens RSQ|REFSEQ:NM_002015 RPA|REFPROT:NP_002006 DBA|XM:NM_002015 |NA:AF032885 |NA:BC021981 |NA:BT007455 |NA:BX648278 |NA:U02310 |NA:none PAC|XP:NP_002006 SYM|FOXO1A NAM|forkhead box O1A (rhabdomyosarcoma) SYN|FKH1 |FKHR |FOXO1 FNC|forkhead box O1A |anti-apoptosis ; GO:0006916 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|This gene belongs to the forkhead family of transcription factors which are characterized |by a distinct forkhead domain. The specific function of this gene has not yet been |determined; however, it may play a role in myogenic growth and differentiation. |Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. CHR|13 PRD|forkhead (Drosophila) homolog 1 (rhabdomyosarcoma) |forkhead, Drosophila, homolog of, in rhabdomyosarcoma URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170133 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2308[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:266367 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002015 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002015 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170133 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28237 DBL|UNIGENE:Hs.170133 |OMIM:136533 |SNP:2308 MAP|13q14.1 PHP|Rhabdomyosarcoma, alveolar ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 988; expect == 0.0; MEOW:ref|XP_342245.1| (87%) |species == Mouse; gene == Foxo1; score == 983; expect == 0.0; MEOW:MGgn0014660 (91%) |species == Human; gene == FOXO3A; score == 407; expect == 8e-114; MEOW:HUgn0002309 (41%) |species == Zfish; gene == foxo5; score == 352; expect == 1.9e-98; MEOW:ZFgn0000570 (43%) |species == Worm; gene == daf-16; score == 148; expect == 6.5e-36; MEOW:CEgn0000359 (31%) } # EOR GENR { RETE|ID 1 HUgn0002309 CHR 1 6 DID 1 LocusLink:2309 MAP 1 6q21 NAM 1 forkhead box O3A ORG 1 Homo sapiens SYM 1 FOXO3A ID|HUgn0002309 DID|LocusLink:2309 ORG|Homo sapiens RSQ|REFSEQ:NM_001455 RPA|REFPROT:NP_001446 DBA|XM:NM_001455 |NA:AJ001590 |NA:AF032886 |NA:AF041336 |NA:AJ001589 |NA:AK122861 |NA:BC020227 |NA:BC021224 |NA:BC045800 |NA:none PAC|XP:NP_001446 SYM|FOXO3A NAM|forkhead box O3A SYN|AF6q21 |FKHRL1 |FKHRL1P2 FNC|forkhead box O3A |induction of apoptosis ; GO:0006917 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |apoptosis ; GO:0006915 |transcription from Pol II promoter ; GO:0006366 REAB|This gene belongs to the forkhead family of transcription factors which are characterized |by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis |through expression of genes necessary for cell death. Translocation of this gene |with the MLL gene is associated with secondary acute leukemia. CHR|6 PRD|forkhead (Drosophila) homolog (rhabdomyosarcoma) like 1 |forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=14845 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2309[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6261978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001455 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001455 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=14845 DBL|UNIGENE:Hs.14845 |OMIM:602681 |SNP:2309 MAP|6q21 ENZ|transcription factor activity ; GO:0003700 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == rat; score == 989; expect == 0.0; MEOW:ref|XP_215421.2| (93%) |species == Mouse; gene == Foxo3; score == 974; expect == 0.0; MEOW:MGgn0014661 (93%) |species == Zfish; gene == foxo5; score == 529; expect == 9e-152; MEOW:ZFgn0000570 (52%) |species == Human; gene == FOXO1A; score == 407; expect == 8e-114; MEOW:HUgn0002308 (41%) |species == Worm; gene == daf-16; score == 150; expect == 2.2e-36; MEOW:CEgn0000359 (37%) } # EOR GENR { RETE|ID 1 HUgn0002310 CHR 1 17 DID 1 LocusLink:2310 MAP 1 17p11 NAM 1 forkhead box O3B ORG 1 Homo sapiens SYM 1 FOXO3B ID|HUgn0002310 DID|LocusLink:2310 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF032887 SYM|FOXO3B NAM|forkhead box O3B SYN|FKHRL1P1 CHR|17 PRD|forkhead(Drosophila) homolog (rhabdomyosarcoma) 1 like pseudogene 1 |forkhead (Drosophila) homolog (rhabdomyosarcoma) like 1 pseudogene 1 MAP|17p11 DBL|SNP:2310 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6261980 } # EOR GENR { RETE|ID 1 HUgn0002311 CHR 1 5 DID 1 LocusLink:2311 MAP 1 5q35.2-35.3 NAM 1 forkhead box O1B ORG 1 Homo sapiens SYM 1 FOXO1B ID|HUgn0002311 DID|LocusLink:2311 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF032888 SYM|FOXO1B NAM|forkhead box O1B SYN|FKHRP1 CHR|5 PRD|forkhead (Drosophila) homolog (rhabdomyosarcoma) pseudogene 1 MAP|5q35.2-35.3 DBL|SNP:2311 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:6261979 } # EOR GENR { RETE|ID 1 HUgn0002312 CHR 1 1 DID 1 LocusLink:2312 MAP 1 1q21 NAM 1 filaggrin ORG 1 Homo sapiens SYM 1 FLG ID|HUgn0002312 DID|LocusLink:2312 ORG|Homo sapiens DBA|XM:XM_048104 |NA:M24355 |NA:M60502 |NA:none PAC|XP:XP_048104 SYM|FLG NAM|filaggrin CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73995 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=490172 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119912 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=M60502 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=M60502 DBL|UNIGENE:Hs.73995 |UNIGENE:Hs.490172 |OMIM:135940 |SNP:2312 MAP|1q21 ENZ|structural molecule activity ; GO:0005198 FNC|development ; GO:0007275 CEL|intermediate filament ; GO:0005882 HG|species == Human; gene == LOC376659; score == 309; expect == 3.6e-83; MEOW:HUgn0376659 (27%) |species == rat; score == 262; expect == 8.3e-70; MEOW:ref|XP_238235.2| (29%) |species == Mouse; gene == 1110033K19Rik; score == 254; expect == 6.8e-67; MEOW:MGgn0016105 (25%) |species == rat; score == 210; expect == 6.9e-54; MEOW:ref|XP_228426.1| (21%) |species == Worm; gene == T02H6.3; score == 168; expect == 2.2e-41; MEOW:CEgn0015244 (19%) } # EOR GENR { RETE|ID 1 HUgn0002313 CHR 1 11 DID 1 LocusLink:2313 MAP 1 11q24.1-q24.3 NAM 1 Friend leukemia virus integration 1 ORG 1 Homo sapiens SYM 1 FLI1 ID|HUgn0002313 DID|LocusLink:2313 ORG|Homo sapiens RSQ|REFSEQ:NM_002017 RPA|REFPROT:NP_002008 DBA|XM:NM_002017 |NA:AF275879 |NA:AF147318 |NA:AY029368 |NA:BC001670 |NA:BC010115 |NA:M93255 |NA:M98833 |NA:S45205 |NA:X67001 |NA:none PAC|XP:NP_002008 SYM|FLI1 NAM|Friend leukemia virus integration 1 SYN|EWSR2 |SIC-1 FNC|Friend leukemia virus integration 1 |hemostasis ; GO:0007599 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription, DNA-dependent ; GO:0006355 |histogenesis and organogenesis ; GO:0007397 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=257049 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2313[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127565 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002017 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002017 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=257049 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28170 DBL|UNIGENE:Hs.257049 |OMIM:193067 |SNP:2313 MAP|11q24.1-q24.3 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fli1; score == 922; expect == 0.0; MEOW:MGgn0004347 (96%) |species == rat; score == 858; expect == 0.0; MEOW:ref|XP_235979.2| (95%) |species == Zfish; gene == fli1; score == 686; expect == 0.0; MEOW:ZFgn0000142 (78%) |species == Human; gene == ERG; score == 611; expect == 2e-175; MEOW:HUgn0002078 (66%) |species == Fruitfly; gene == Ets65A; score == 256; expect == 8.1e-69; MEOW:FBgn0005658 (65%) |species == Mosquito; gene == LOC18519; score == 232; expect == 1.6e-61; MEOW:AGgn0018519 (66%) |species == Fruitfly; gene == Ets21C; score == 213; expect == 1.3e-55; MEOW:FBgn0005660 (40%) |species == Mosquito; score == 209; expect == 1.1e-54; MEOW:AGgn0011131 (47%) |species == Worm; gene == T08H4.3a; score == 206; expect == 1.9e-53; MEOW:CEgn0032484 (75%) |species == Worm; gene == T08H4.3b; score == 202; expect == 1.1e-52; MEOW:CEgn0032485 (80%) |species == Worm; gene == C42D8.4; score == 181; expect == 1.9e-46; MEOW:CEgn0006386 (79%) } # EOR GENR { RETE|ID 1 HUgn0002314 CHR 1 17 DID 1 LocusLink:2314 MAP 1 17p11.2 NAM 1 flightless I homolog (Drosophila) ORG 1 Homo sapiens SYM 1 FLII ID|HUgn0002314 DID|LocusLink:2314 ORG|Homo sapiens RSQ|REFSEQ:NM_002018 RPA|REFPROT:NP_002009 DBA|XM:NM_002018 |NA:U80184 |NA:BC001582 |NA:BC017030 |NA:BC021885 |NA:BC025300 |NA:U01184 |NA:none PAC|XP:NP_002009 SYM|FLII NAM|flightless I homolog (Drosophila) SYN|FLI |FLIL |Fli1 |MGC39265 FNC|flightless I homolog |muscle contraction ; GO:0006936 |development ; GO:0007275 REAB|This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal |leucine-rich repeat-protein protein interaction domain. The protein is similar to |a Drosophila protein involved in early embryogenesis and the structural organization |of indirect flight muscle. The gene is located within the Smith-Magenis syndrome |region on chromosome 17. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445182 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2314[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:270675 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002018 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002018 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445182 DBL|UNIGENE:Hs.445182 |OMIM:600362 |SNP:2314 MAP|17p11.2 ENZ|actin binding ; GO:0003779 HG|species == Mouse; gene == Fliih; score == 2242; expect == 0.0; MEOW:MGgn0004348 (94%) |species == rat; score == 2239; expect == 0.0; MEOW:ref|XP_213330.2| (94%) |species == Fruitfly; gene == fliI; score == 1356; expect == 0.0; MEOW:FBgn0000709 (56%) |species == Mosquito; gene == LOC15009; score == 1343; expect == 0.0; MEOW:AGgn0015009 (56%) |species == Human; gene == AVIL; score == 280; expect == 3.1e-75; MEOW:HUgn0010677 (29%) |species == Human; gene == GSN; score == 259; expect == 5.3e-69; MEOW:HUgn0002934 (27%) |species == Weed; gene == At3g57410; score == 249; expect == 5.3e-66; MEOW:ATgn0016583 (26%) |species == Human; gene == VIL1; score == 242; expect == 1.1e-63; MEOW:HUgn0007429 (26%) |species == Weed; gene == At2g41740; score == 240; expect == 2.5e-63; MEOW:ATgn0007565 (26%) |species == Weed; gene == At5g57320; score == 237; expect == 2.1e-62; MEOW:ATgn0023405 (27%) |species == Weed; gene == At4g30160; score == 236; expect == 6.2e-62; MEOW:ATgn0017510 (26%) |species == rice; score == 233; expect == 5.3e-61; MEOW:gnl|TIGR|8354.m04192 (25%) |species == rice; score == 203; expect == 5.5e-52; MEOW:gnl|TIGR|8352.m04762 (25%) |species == rice; score == 195; expect == 9.6e-50; MEOW:gnl|TIGR|8360.m02189 (24%) |species == Worm; gene == K06A4.3; score == 147; expect == 1.3e-35; MEOW:CEgn0013304 (27%) } # EOR GENR { RETE|ID 1 HUgn0002315 CHR 1 9 DID 1 LocusLink:2315 MAP 1 9p24.1 NAM 1 melan-A ORG 1 Homo sapiens SYM 1 MLANA ID|HUgn0002315 DID|LocusLink:2315 ORG|Homo sapiens RSQ|REFSEQ:NM_005511 RPA|REFPROT:NP_005502 DBA|XM:NM_005511 |NA:BC014423 |NA:U06452 |NA:U06654 |NA:none PAC|XP:NP_005502 SYM|MLANA NAM|melan-A SYN|MART1 |MART-1 FNC|melan-A CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154069 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2315[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:358979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005511 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005511 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154069 DBL|UNIGENE:Hs.154069 |OMIM:605513 |SNP:2315 MAP|9p24.1 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 152; expect == 2.6e-38; MEOW:ref|XP_215234.1| (71%) |species == Mouse; gene == Mlana; score == 138; expect == 2.5e-34; MEOW:MGgn0007405 (67%) } # EOR GENR { RETE|ID 1 HUgn0002316 CHR 1 X DID 1 LocusLink:2316 MAP 1 Xq28 NAM 1 filamin A, alpha (actin binding protein 280) ORG 1 Homo sapiens SYM 1 FLNA ID|HUgn0002316 DID|LocusLink:2316 ORG|Homo sapiens RSQ|REFSEQ:NM_001456 RPA|REFPROT:NP_001447 DBA|XM:NM_001456 |NA:L44140 |NA:X70085 |NA:AK074048 |NA:AK090427 |NA:AL050396 |NA:BC014654 |NA:BC041179 |NA:X53416 |NA:none PAC|XP:NP_001447 SYM|FLNA NAM|filamin A, alpha (actin binding protein 280) SYN|FLN |FMD |MNS |ABPX |FLN1 |NHBP |OPD1 |OPD2 |ABP-280 FNC|filamin 1 (actin-binding protein-280) CHR|X PRD|filamin 1 |actin-binding protein-280 |filamin A, alpha (actin-binding protein-280) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=195464 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2316[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:137276 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001456 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001456 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=195464 |http://www.geneclinics.org/query?mim=300017 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28172 DBL|UNIGENE:Hs.195464 |OMIM:300017 |SNP:2316 MAP|Xq28 PHP|Frontometaphyseal dysplasia |Heterotopia, periventricular |Melnick-Needles syndrome |Otopalatodigital syndrome, type I, 311300, Otopalatodigital syndrome, type II HG|species == rat; score == 5077; expect == 0.0; MEOW:ref|XP_238167.2| (97%) |species == Human; gene == FLNB; score == 3698; expect == 0.0; MEOW:HUgn0002317 (69%) |species == Human; gene == FLNC; score == 3227; expect == 0.0; MEOW:HUgn0002318 (63%) |species == Mosquito; score == 1520; expect == 0.0; MEOW:AGgn0003616 (42%) |species == Mosquito; score == 1306; expect == 0.0; MEOW:AGgn0029522 (47%) |species == Fruitfly; gene == cher; score == 1303; expect == 0.0; MEOW:FBgn0014141 (47%) |species == Worm; gene == Y66H1B.2; score == 702; expect == 0.0; MEOW:CEgn0022479 (43%) |species == Mouse; gene == Actn4; score == 157; expect == 4.0e-38; MEOW:MGgn0014762 (37%) |species == Mouse; gene == Actn2; score == 156; expect == 1.2e-37; MEOW:MGgn0000104 (37%) |species == Mouse; gene == Actn3; score == 156; expect == 8.9e-38; MEOW:MGgn0000106 (37%) |species == Zfish; gene == sptb; score == 145; expect == 1.5e-35; MEOW:ZFgn0000936 (38%) |species == Mouse; gene == Spnb1; score == 144; expect == 4.6e-34; MEOW:MGgn0011193 (40%) |species == Mouse; gene == Spnb2; score == 144; expect == 6.0e-34; MEOW:MGgn0011194 (40%) |species == Mouse; gene == Macf1; score == 137; expect == 5.6e-32; MEOW:MGgn0000058 (38%) |species == Mouse; gene == Spnb4; score == 136; expect == 1.6e-31; MEOW:MGgn0028805 (36%) } # EOR GENR { RETE|ID 1 HUgn0002317 CHR 1 3 DID 1 LocusLink:2317 MAP 1 3p14.3 NAM 1 filamin B, beta (actin binding protein 278) ORG 1 Homo sapiens SYM 1 FLNB ID|HUgn0002317 DID|LocusLink:2317 ORG|Homo sapiens RSQ|REFSEQ:NM_001457 RPA|REFPROT:NP_001448 DBA|XM:NM_001457 |NA:AF042166 |NA:AF043045 |NA:AF238609 |NA:AK022486 |NA:AK098160 |NA:AL137574 |NA:BX641085 |NA:M62994 PAC|XP:NP_001448 SYM|FLNB NAM|filamin B, beta (actin binding protein 278) SYN|FH1 |TAP |TABP |FLN1L |ABP-278 FNC|filamin B, beta (actin binding protein 278) CHR|3 PRD|beta filamin |Filamin B, beta |filamin 1 (actin-binding protein-280)-like |filamin B, beta (actin-binding protein-278) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81008 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=476435 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2317[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:216171 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001457 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001457 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28173 DBL|UNIGENE:Hs.81008 |UNIGENE:Hs.476435 |OMIM:603381 |SNP:2317 MAP|3p14.3 HG|species == rat; score == 4922; expect == 0.0; MEOW:ref|XP_224561.2| (92%) |species == Human; gene == FLNA; score == 3698; expect == 0.0; MEOW:HUgn0002316 (69%) |species == Human; gene == FLNC; score == 3103; expect == 0.0; MEOW:HUgn0002318 (61%) |species == Mosquito; score == 1509; expect == 0.0; MEOW:AGgn0003616 (42%) |species == Mosquito; score == 1278; expect == 0.0; MEOW:AGgn0029522 (47%) |species == Fruitfly; gene == cher; score == 1261; expect == 0.0; MEOW:FBgn0014141 (46%) |species == Worm; gene == Y66H1B.2; score == 683; expect == 0.0; MEOW:CEgn0022479 (40%) |species == Mouse; gene == Actn2; score == 159; expect == 1.0e-38; MEOW:MGgn0000104 (37%) |species == Mouse; gene == Actn3; score == 159; expect == 1.3e-38; MEOW:MGgn0000106 (37%) |species == Mouse; gene == Actn4; score == 156; expect == 8.7e-38; MEOW:MGgn0014762 (36%) |species == Zfish; gene == sptb; score == 144; expect == 4.4e-35; MEOW:ZFgn0000936 (38%) |species == Mouse; gene == Macf1; score == 141; expect == 3.8e-33; MEOW:MGgn0000058 (39%) |species == Mouse; gene == Spnb1; score == 140; expect == 8.5e-33; MEOW:MGgn0011193 (37%) |species == Mouse; gene == Spnb2; score == 139; expect == 1.1e-32; MEOW:MGgn0011194 (39%) |species == Mouse; gene == Spnb4; score == 137; expect == 5.5e-32; MEOW:MGgn0028805 (37%) } # EOR GENR { RETE|ID 1 HUgn0002318 CHR 1 7 DID 1 LocusLink:2318 MAP 1 7q32-q35 NAM 1 filamin C, gamma (actin binding protein 280) ORG 1 Homo sapiens SYM 1 FLNC ID|HUgn0002318 DID|LocusLink:2318 ORG|Homo sapiens RSQ|REFSEQ:NM_001458 RPA|REFPROT:NP_001449 DBA|XM:NM_001458 |XM:NM_001458 |NA:AF089841 |NA:AF146692 |NA:AJ012737 |NA:X70083 |NA:X70084 |NA:none PAC|XP:NP_001449 |XP:NP_001449 SYM|FLNC NAM|filamin C, gamma (actin binding protein 280) SYN|ABPA |ABPL |FLN2 |ABP-280 |ABP280A FNC|gamma filamin REAB|Human actin-binding protein (ABP), also called filamin, crosslinks actin filaments |into orthogonal networks in cortical cytoplasm and participates in the anchoring |of membrane proteins for the actin cytoskeleton. Filamin has 3 functional domains: |an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, |and a membrane glycoprotein-binding domain. FLNC encodes the actin-binding protein |gamma-filamin. FLNC is one of three related filamin genes, the original member (FLNA) |encoding the acting-binding protein of 280 Kd. CHR|7 PRD|filamin 2 |actin-binding protein 280 |filamin C, gamma (actin-binding protein-280) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=58414 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2318[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:206564 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001458 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001458 DBL|UNIGENE:Hs.58414 |OMIM:102565 |SNP:2318 MAP|7q32-q35 ENZ|actin binding ; GO:0003779 CEL|actin cytoskeleton ; GO:0015629 HG|species == rat; score == 5205; expect == 0.0; MEOW:ref|XP_342654.1| (95%) |species == Human; gene == FLNA; score == 3227; expect == 0.0; MEOW:HUgn0002316 (63%) |species == Human; gene == FLNB; score == 3103; expect == 0.0; MEOW:HUgn0002317 (61%) |species == Mosquito; score == 1313; expect == 0.0; MEOW:AGgn0003616 (38%) |species == Fruitfly; gene == cher; score == 915; expect == 0.0; MEOW:FBgn0014141 (39%) |species == Worm; gene == Y66H1B.3; score == 526; expect == 3e-149; MEOW:CEgn0022480 (34%) |species == Worm; gene == Y66H1B.2; score == 438; expect == 6e-123; MEOW:CEgn0022479 (33%) |species == Mouse; gene == Actn3; score == 161; expect == 3.7e-39; MEOW:MGgn0000106 (37%) |species == Mouse; gene == Actn2; score == 160; expect == 6.3e-39; MEOW:MGgn0000104 (37%) |species == Mouse; gene == Actn4; score == 157; expect == 6.9e-38; MEOW:MGgn0014762 (36%) |species == Zfish; gene == sptb; score == 149; expect == 1.4e-36; MEOW:ZFgn0000936 (39%) |species == Mouse; gene == Spnb1; score == 146; expect == 1.2e-34; MEOW:MGgn0011193 (38%) |species == Mouse; gene == Spnb2; score == 146; expect == 9.4e-35; MEOW:MGgn0011194 (40%) |species == Mouse; gene == Macf1; score == 142; expect == 1.4e-33; MEOW:MGgn0000058 (39%) |species == Mouse; gene == Spnb4; score == 142; expect == 1.4e-33; MEOW:MGgn0028805 (37%) } # EOR GENR { RETE|ID 1 HUgn0002319 CHR 1 17 DID 1 LocusLink:2319 MAP 1 17q11-q12 NAM 1 flotillin 2 ORG 1 Homo sapiens SYM 1 FLOT2 ID|HUgn0002319 DID|LocusLink:2319 ORG|Homo sapiens RSQ|REFSEQ:NM_004475 RPA|REFPROT:NP_004466 DBA|XM:NM_004475 |NA:BC003683 |NA:BC017292 |NA:M60922 |NA:none PAC|XP:NP_004466 SYM|FLOT2 NAM|flotillin 2 SYN|ESA |ECS1 |ESA1 |ECS-1 |M17S1 FNC|flotillin 2 |epidermal differentiation ; GO:0008544 |cell adhesion ; GO:0007155 REAB|Caveolae are small domains on the inner cell membrane involved in vesicular trafficking |and signal transduction. FLOT2 encodes a caveolae-associated, integral membrane |protein. Flotillin 2 is though to function in neuronal signaling. CHR|17 PRD|Flotillin 2 (epidermal surface antigen 1) |membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=18799 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2319[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127271 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004475 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004475 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=18799 DBL|UNIGENE:Hs.18799 |OMIM:131560 |SNP:2319 MAP|17q11-q12 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 |flotillin complex ; GO:0016600 HG|species == Mouse; gene == Flot2; score == 659; expect == 0.0; MEOW:MGgn0004352 (99%) |species == rat; score == 644; expect == 0.0; MEOW:ref|NP_114018.1| (97%) |species == Zfish; gene == flot2a; score == 564; expect == 3e-161; MEOW:ZFgn0002563 (80%) |species == Mosquito; score == 442; expect == 2e-124; MEOW:AGgn0015278 (64%) |species == Fruitfly; gene == Flo-2; score == 441; expect == 3e-124; MEOW:FBgn0024753 (63%) |species == chimp; score == 329; expect == 3.3e-92; MEOW:sp|BAC78174|BAC78174 (47%) |species == Human; gene == FLOT1; score == 327; expect == 8.7e-90; MEOW:HUgn0010211 (47%) } # EOR GENR { RETE|ID 1 HUgn0002321 CHR 1 13 DID 1 LocusLink:2321 MAP 1 13q12 NAM 1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) ORG 1 Homo sapiens SYM 1 FLT1 ID|HUgn0002321 DID|LocusLink:2321 ORG|Homo sapiens RSQ|REFSEQ:NM_002019 RPA|REFPROT:NP_002010 DBA|XM:NM_002019 |NA:AF063657 |NA:BC039007 |NA:S77812 |NA:S77814 |NA:U01134 |NA:none PAC|XP:NP_002010 SYM|FLT1 NAM|fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) SYN|FLT |VEGFR1 FNC|fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |positive regulation of cell proliferation ; GO:0008284 |pregnancy ; GO:0007565 |protein amino acid phosphorylation ; GO:0006468 |angiogenesis ; GO:0001525 CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=347713 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2321[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120616 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002019 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002019 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=347713 DBL|UNIGENE:Hs.347713 |OMIM:165070 |SNP:2321 ENZ|EC:2.7.1.112 |vascular endothelial growth factor receptor activity ; GO:0005021 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|13q12 CEL|integral to plasma membrane ; GO:0005887 |extracellular space ; GO:0005615 HG|species == rat; score == 2186; expect == 0.0; MEOW:ref|NP_062179.1| (82%) |species == Mouse; gene == Flt1; score == 2164; expect == 0.0; MEOW:MGgn0004354 (81%) |species == Zfish; gene == kdr; score == 1014; expect == 0.0; MEOW:ZFgn0000823 (44%) |species == Human; gene == KDR; score == 996; expect == 0.0; MEOW:HUgn0003791 (45%) |species == Human; gene == FLT4; score == 891; expect == 0.0; MEOW:HUgn0002324 (41%) |species == Mosquito; score == 316; expect == 3.7e-86; MEOW:AGgn0026153 (32%) |species == Mosquito; gene == LOC3182; score == 313; expect == 2.4e-85; MEOW:AGgn0003182 (32%) |species == Fruitfly; gene == btl; score == 265; expect == 6.0e-71; MEOW:FBgn0005592 (41%) |species == Fruitfly; gene == htl; score == 261; expect == 1.1e-69; MEOW:FBgn0010389 (29%) |species == Mosquito; gene == LOC13218; score == 259; expect == 5.3e-69; MEOW:AGgn0013218 (41%) |species == Fruitfly; gene == Cad96Ca; score == 243; expect == 3.2e-64; MEOW:FBgn0022800 (37%) |species == Worm; gene == egl-15; score == 238; expect == 1.3e-62; MEOW:CEgn0000492 (40%) |species == Worm; gene == F58A3.2d; score == 235; expect == 1.2e-61; MEOW:CEgn0032211 (39%) |species == Worm; gene == ver-4; score == 234; expect == 2.9e-61; MEOW:CEgn0012571 (28%) |species == Worm; gene == ver-3; score == 231; expect == 1.1e-60; MEOW:CEgn0012568 (22%) } # EOR GENR { RETE|ID 1 HUgn0002322 CHR 1 13 DID 1 LocusLink:2322 MAP 1 13q12 NAM 1 fms-related tyrosine kinase 3 ORG 1 Homo sapiens SYM 1 FLT3 ID|HUgn0002322 DID|LocusLink:2322 ORG|Homo sapiens RSQ|REFSEQ:NM_004119 RPA|REFPROT:NP_004110 DBA|XM:NM_004119 |NA:U02687 |NA:Z26652 |NA:none PAC|XP:NP_004110 SYM|FLT3 NAM|fms-related tyrosine kinase 3 SYN|FLK2 |STK1 |CD135 FNC|fms-related tyrosine kinase 3 |transmembrane receptor protein tyrosine kinase signaling pathway ; GO:0007169 |positive regulation of cell proliferation ; GO:0008284 |protein amino acid phosphorylation ; GO:0006468 CHR|13 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=385 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2322[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125193 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004119 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004119 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28181 DBL|UNIGENE:Hs.385 |OMIM:136351 |SNP:2322 |PROW:1254032235 ENZ|EC:2.7.1.112 |vascular endothelial growth factor receptor activity ; GO:0005021 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transferase activity ; GO:0016740 MAP|13q12 PHP|Leukemia, acute myeloid |Leukemia, acute myeloid, reduced survival in CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Flt3; score == 1688; expect == 0.0; MEOW:MGgn0004355 (86%) |species == rat; score == 1627; expect == 0.0; MEOW:ref|XP_221874.2| (80%) |species == Zfish; gene == kit; score == 476; expect == 1e-135; MEOW:ZFgn0000153 (39%) |species == Human; gene == KIT; score == 453; expect == 3e-127; MEOW:HUgn0003815 (37%) |species == Zfish; gene == csf1r; score == 445; expect == 3e-126; MEOW:ZFgn0001968 (35%) |species == Human; gene == CSF1R; score == 441; expect == 8e-124; MEOW:HUgn0001436 (36%) |species == Human; gene == PDGFRA; score == 421; expect == 1e-117; MEOW:HUgn0005156 (36%) |species == Human; gene == PDGFRB; score == 397; expect == 2e-110; MEOW:HUgn0005159 (35%) |species == Fruitfly; gene == btl; score == 245; expect == 4.6e-65; MEOW:FBgn0005592 (38%) |species == Fruitfly; gene == htl; score == 238; expect == 7.4e-63; MEOW:FBgn0010389 (38%) |species == Mosquito; gene == LOC3182; score == 235; expect == 6.0e-62; MEOW:AGgn0003182 (32%) |species == Mosquito; score == 235; expect == 6.0e-62; MEOW:AGgn0026153 (32%) |species == Worm; gene == egl-15; score == 235; expect == 9.6e-62; MEOW:CEgn0000492 (37%) |species == Worm; gene == F58A3.2d; score == 231; expect == 8.1e-61; MEOW:CEgn0032211 (36%) |species == Fruitfly; gene == Cad96Ca; score == 218; expect == 6.1e-57; MEOW:FBgn0022800 (36%) |species == Worm; gene == C24G6.2a; score == 204; expect == 1.1e-52; MEOW:CEgn0005272 (33%) |species == Worm; gene == C24G6.2b; score == 204; expect == 1.1e-52; MEOW:CEgn0005273 (33%) |species == Fruitfly; gene == CG3277; score == 199; expect == 2.9e-51; MEOW:FBgn0031518 (33%) } # EOR GENR { RETE|ID 1 HUgn0002323 CHR 1 19 DID 1 LocusLink:2323 MAP 1 19q13.3 NAM 1 fms-related tyrosine kinase 3 ligand ORG 1 Homo sapiens SYM 1 FLT3LG ID|HUgn0002323 DID|LocusLink:2323 ORG|Homo sapiens RSQ|REFSEQ:NM_001459 RPA|REFPROT:NP_001450 DBA|XM:NM_001459 |NA:U29874 |NA:AI792400 |NA:BC028001 |NA:U03858 |NA:U04806 |NA:none PAC|XP:NP_001450 SYM|FLT3LG NAM|fms-related tyrosine kinase 3 ligand FNC|fms-related tyrosine kinase 3 ligand |positive regulation of cell proliferation ; GO:0008284 |signal transduction ; GO:0007165 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=428 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2323[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:344928 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001459 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001459 DBL|UNIGENE:Hs.428 |OMIM:600007 |SNP:2323 MAP|19q13.3 ENZ|cytokine activity ; GO:0005125 CEL|soluble fraction ; GO:0005625 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Flt3l; score == 258; expect == 2.5e-69; MEOW:MGgn0004356 (69%) |species == rat; score == 210; expect == 6.1e-55; MEOW:ref|XP_341855.1| (61%) } # EOR GENR { RETE|ID 1 HUgn0002324 CHR 1 5 DID 1 LocusLink:2324 MAP 1 5q34-q35 NAM 1 fms-related tyrosine kinase 4 ORG 1 Homo sapiens SYM 1 FLT4 ID|HUgn0002324 DID|LocusLink:2324 ORG|Homo sapiens RSQ|REFSEQ:NM_002020 |REFSEQ:NM_182925 RPA|REFPROT:NP_002011 |REFPROT:NP_891555 DBA|XM:NM_002020 |NA:AY233382 |NA:AY233383 |NA:U43143 |NA:X68203 |NA:X69878 |NA:none PAC|XP:NP_002011 SYM|FLT4 NAM|fms-related tyrosine kinase 4 SYN|PCL |VEGFR3 FNC|fms-related tyrosine kinase 4 isoform 1 |fms-related tyrosine kinase 4 isoform 2 CHR|5 PRD|fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) DBL|OMIM:136352 |SNP:2324 ENZ|EC:2.7.1.112 MAP|5q34-q35 PHP|Hemangioma, capillary infantile, somatic |Lymphedema, hereditary I URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2324[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128732 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_182925 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_182925 |http://www.geneclinics.org/query?mim=136352 HG|species == Mouse; gene == Flt4; score == 2291; expect == 0.0; MEOW:MGgn0004357 (88%) |species == rat; score == 2291; expect == 0.0; MEOW:ref|XP_346390.1| (88%) |species == Human; gene == KDR; score == 1011; expect == 0.0; MEOW:HUgn0003791 (44%) |species == Human; gene == FLT1; score == 891; expect == 0.0; MEOW:HUgn0002321 (41%) |species == Zfish; gene == kdr; score == 833; expect == 0.0; MEOW:ZFgn0000823 (41%) |species == Mosquito; gene == LOC3182; score == 283; expect == 1.9e-76; MEOW:AGgn0003182 (30%) |species == Mosquito; score == 280; expect == 2.2e-75; MEOW:AGgn0026153 (30%) |species == Mosquito; gene == LOC13218; score == 251; expect == 1.4e-66; MEOW:AGgn0013218 (41%) |species == Fruitfly; gene == btl; score == 246; expect == 3.6e-65; MEOW:FBgn0005592 (42%) |species == Fruitfly; gene == htl; score == 241; expect == 1.5e-63; MEOW:FBgn0010389 (30%) |species == Mosquito; gene == LOC19144; score == 240; expect == 3.2e-63; MEOW:AGgn0019144 (39%) |species == Fruitfly; gene == Ret; score == 239; expect == 5.8e-63; MEOW:FBgn0011829 (39%) |species == Fruitfly; gene == Cad96Ca; score == 235; expect == 6.4e-62; MEOW:FBgn0022800 (37%) |species == Worm; gene == egl-15; score == 229; expect == 4.1e-60; MEOW:CEgn0000492 (41%) |species == Worm; gene == F58A3.2d; score == 226; expect == 3.5e-59; MEOW:CEgn0032211 (40%) |species == Fruitfly; gene == Pvr; score == 202; expect == 7.8e-52; MEOW:FBgn0032006 (24%) |species == Fruitfly; gene == CG3277; score == 198; expect == 1.2e-50; MEOW:FBgn0031518 (32%) } # EOR GENR { RETE|ID 1 HUgn0002325 CHR 1 15 DID 1 LocusLink:2325 MAP 1 15q13-q14 NAM 1 formin (limb deformity) ORG 1 Homo sapiens SYM 1 FMN ID|HUgn0002325 DID|LocusLink:2325 ORG|Homo sapiens DBA|NA:M38684 |NA:M38685 |NA:AI040235 |NA:AI381838 |NA:AI417633 SYM|FMN NAM|formin (limb deformity) SYN|LD CHR|15 DBL|OMIM:136535 MAP|15q13-q14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125259 } # EOR GENR { RETE|ID 1 HUgn0002326 CHR 1 1 DID 1 LocusLink:2326 MAP 1 1q23-q25 NAM 1 flavin containing monooxygenase 1 ORG 1 Homo sapiens SYM 1 FMO1 ID|HUgn0002326 DID|LocusLink:2326 ORG|Homo sapiens RSQ|REFSEQ:NM_002021 RPA|REFPROT:NP_002012 DBA|XM:NM_002021 |NA:AK097039 |NA:BC047129 |NA:M64082 |NA:none PAC|XP:NP_002012 SYM|FMO1 NAM|flavin containing monooxygenase 1 FNC|flavin containing monooxygenase 1 |electron transport ; GO:0006118 REAB|Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated |by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism |in man resulting in a small subpopulation with reduced TMA N-oxidation capacity |resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 |found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered |in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes |that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, |and xenobiotics. CHR|1 PRD|Flavin-containing monooxygenase 1 (fetal liver) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1424 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2326[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126689 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002021 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002021 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1424 DBL|UNIGENE:Hs.1424 |OMIM:136130 |SNP:2326 ENZ|EC:1.14.13.8 |dimethylaniline monooxygenase (N-oxide-forming) activity ; GO:0004499 |disulfide oxidoreductase activity ; GO:0015036 MAP|1q23-q25 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Fmo1; score == 901; expect == 0.0; MEOW:MGgn0004363 (83%) |species == rat; score == 891; expect == 0.0; MEOW:ref|NP_036924.1| (82%) |species == chimp; score == 649; expect == 0.0; MEOW:sp|Q8HZ70|Q8HZ70 (57%) |species == Human; gene == FMO3; score == 598; expect == 2e-171; MEOW:HUgn0002328 (55%) |species == chimp; score == 598; expect == 4e-173; MEOW:sp|AAP57529|AAP57529 (55%) |species == Human; gene == FMO2; score == 593; expect == 7e-170; MEOW:HUgn0002327 (58%) |species == Human; gene == FMO5; score == 554; expect == 5e-158; MEOW:HUgn0002330 (52%) |species == Human; gene == FMO4; score == 550; expect == 1e-156; MEOW:HUgn0002329 (52%) |species == Human; gene == LOC375037; score == 511; expect == 5e-145; MEOW:HUgn0375037 (48%) |species == Worm; gene == fmo-15; score == 374; expect == 4e-104; MEOW:CEgn0012809 (39%) |species == Worm; gene == fmo-12; score == 361; expect == 4e-100; MEOW:CEgn0013497 (41%) |species == Worm; gene == fmo-13; score == 361; expect == 4e-100; MEOW:CEgn0022013 (38%) |species == Worm; gene == fmo-11; score == 355; expect == 3.2e-98; MEOW:CEgn0013494 (39%) |species == Worm; gene == fmo-14; score == 329; expect == 1.9e-90; MEOW:CEgn0011642 (35%) |species == Mosquito; score == 166; expect == 1.3e-41; MEOW:AGgn0028857 (28%) |species == Mosquito; gene == LOC22373; score == 156; expect == 2.3e-38; MEOW:AGgn0022373 (29%) |species == Fruitfly; gene == Fmo-2; score == 139; expect == 2.3e-33; MEOW:FBgn0033079 (36%) } # EOR GENR { RETE|ID 1 HUgn0002327 CHR 1 1 DID 1 LocusLink:2327 MAP 1 1q23-q25 NAM 1 flavin containing monooxygenase 2 ORG 1 Homo sapiens SYM 1 FMO2 ID|HUgn0002327 DID|LocusLink:2327 ORG|Homo sapiens RSQ|REFSEQ:NM_001460 RPA|REFPROT:NP_001451 DBA|XM:NM_001460 |NA:AL833218 |NA:BC005894 |NA:BT006979 |NA:Y09267 |NA:none PAC|XP:NP_001451 SYM|FMO2 NAM|flavin containing monooxygenase 2 FNC|flavin containing monooxygenase 2 |electron transport ; GO:0006118 REAB|Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated |by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism |in man resulting in a small subpopulation with reduced TMA N-oxidation capacity |resulting in the fish odor syndrome Trimethylaminuria. Three forms of the enzyme, |FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes |clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent |flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers |in drugs, pesticides, and xenobiotics. The major FMO2 allele encodes a truncated |polypeptide which is catalytically inactive. CHR|1 PRD|Flavin-containing monooxygenase 2 (adult liver) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=361155 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2327[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335399 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001460 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001460 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=361155 DBL|UNIGENE:Hs.361155 |OMIM:603955 |SNP:2327 ENZ|EC:1.14.13.8 |magnesium ion binding ; GO:0000287 |dimethylaniline monooxygenase (N-oxide-forming) activity ; GO:0004499 MAP|1q23-q25 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == chimp; score == 960; expect == 0.0; MEOW:sp|Q8HZ70|Q8HZ70 (99%) |species == Mouse; gene == Fmo2; score == 854; expect == 0.0; MEOW:MGgn0019582 (86%) |species == rat; score == 761; expect == 0.0; MEOW:ref|NP_653338.1| (85%) |species == Human; gene == FMO1; score == 593; expect == 7e-170; MEOW:HUgn0002326 (58%) |species == Human; gene == FMO5; score == 593; expect == 7e-170; MEOW:HUgn0002330 (58%) |species == Human; gene == FMO3; score == 592; expect == 1e-169; MEOW:HUgn0002328 (58%) |species == Human; gene == FMO4; score == 544; expect == 5e-155; MEOW:HUgn0002329 (55%) |species == Human; gene == LOC375037; score == 528; expect == 2e-150; MEOW:HUgn0375037 (56%) |species == Worm; gene == fmo-15; score == 407; expect == 4e-114; MEOW:CEgn0012809 (42%) |species == Worm; gene == fmo-13; score == 406; expect == 1e-113; MEOW:CEgn0022013 (42%) |species == Worm; gene == fmo-11; score == 398; expect == 2e-111; MEOW:CEgn0013494 (42%) |species == Worm; gene == fmo-12; score == 384; expect == 5e-107; MEOW:CEgn0013497 (40%) |species == Worm; gene == fmo-14; score == 357; expect == 7.2e-99; MEOW:CEgn0011642 (37%) |species == Mosquito; gene == LOC22373; score == 180; expect == 1.1e-45; MEOW:AGgn0022373 (32%) |species == Mosquito; score == 167; expect == 1.3e-41; MEOW:AGgn0028857 (29%) |species == Weed; gene == At1g19250; score == 132; expect == 3.2e-31; MEOW:ATgn0000820 (26%) |species == Weed; gene == At1g12160; score == 131; expect == 7.1e-31; MEOW:ATgn0000064 (34%) } # EOR GENR { RETE|ID 1 HUgn0002328 CHR 1 1 DID 1 LocusLink:2328 MAP 1 1q23-q25 NAM 1 flavin containing monooxygenase 3 ORG 1 Homo sapiens SYM 1 FMO3 ID|HUgn0002328 DID|LocusLink:2328 ORG|Homo sapiens RSQ|REFSEQ:NM_006894 RPA|REFPROT:NP_008825 DBA|XM:NM_006894 |NA:U39960 |NA:U39961 |NA:U39962 |NA:U39963 |NA:U39964 |NA:U39965 |NA:U39966 |NA:U39967 |NA:BC032016 |NA:M83772 |NA:Z47552 |NA:none PAC|XP:NP_008825 SYM|FMO3 NAM|flavin containing monooxygenase 3 SYN|FMOII |dJ127D3.1 FNC|flavin containing monooxygenase 3 |electron transport ; GO:0006118 CHR|1 PRD|Flavin-containing monooxygenase-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80876 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2328[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135136 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006894 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006894 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80876 |http://www.geneclinics.org/query?mim=136132 DBL|UNIGENE:Hs.80876 |OMIM:136132 |SNP:2328 ENZ|EC:1.14.13.8 |dimethylaniline monooxygenase (N-oxide-forming) activity ; GO:0004499 |disulfide oxidoreductase activity ; GO:0015036 MAP|1q23-q25 PHP|Fish-odor syndrome CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == chimp; score == 1060; expect == 0.0; MEOW:sp|AAP57529|AAP57529 (99%) |species == rat; score == 897; expect == 0.0; MEOW:ref|XP_346449.1| (81%) |species == Mouse; gene == Fmo3; score == 876; expect == 0.0; MEOW:MGgn0004364 (79%) |species == rat; score == 812; expect == 0.0; MEOW:ref|XP_222818.2| (73%) |species == Human; gene == LOC375037; score == 662; expect == 0.0; MEOW:HUgn0375037 (62%) |species == Human; gene == FMO1; score == 598; expect == 2e-171; MEOW:HUgn0002326 (55%) |species == Human; gene == FMO2; score == 592; expect == 1e-169; MEOW:HUgn0002327 (58%) |species == Human; gene == FMO4; score == 579; expect == 2e-165; MEOW:HUgn0002329 (52%) |species == Human; gene == FMO5; score == 559; expect == 2e-159; MEOW:HUgn0002330 (55%) |species == Worm; gene == fmo-13; score == 401; expect == 5e-112; MEOW:CEgn0022013 (42%) |species == Worm; gene == fmo-11; score == 386; expect == 2e-107; MEOW:CEgn0013494 (38%) |species == Worm; gene == fmo-15; score == 385; expect == 2e-107; MEOW:CEgn0012809 (42%) |species == Worm; gene == fmo-12; score == 362; expect == 3e-100; MEOW:CEgn0013497 (40%) |species == Worm; gene == fmo-14; score == 350; expect == 1.6e-96; MEOW:CEgn0011642 (36%) |species == Mosquito; gene == LOC22373; score == 154; expect == 6.5e-38; MEOW:AGgn0022373 (29%) |species == Mosquito; score == 143; expect == 2.1e-34; MEOW:AGgn0028857 (27%) |species == Weed; gene == At1g19250; score == 139; expect == 2.8e-33; MEOW:ATgn0000820 (28%) |species == Mosquito; gene == LOC10229; score == 133; expect == 2.1e-31; MEOW:AGgn0010229 (36%) } # EOR GENR { RETE|ID 1 HUgn0002329 CHR 1 1 DID 1 LocusLink:2329 MAP 1 1q23-q25 NAM 1 flavin containing monooxygenase 4 ORG 1 Homo sapiens SYM 1 FMO4 ID|HUgn0002329 DID|LocusLink:2329 ORG|Homo sapiens RSQ|REFSEQ:NM_002022 RPA|REFPROT:NP_002013 DBA|XM:NM_002022 |NA:BC002780 |NA:BT007444 |NA:Z11737 |NA:none PAC|XP:NP_002013 SYM|FMO4 NAM|flavin containing monooxygenase 4 SYN|FMO2 FNC|flavin containing monooxygenase 4 |xenobiotic metabolism ; GO:0006805 |electron transport ; GO:0006118 REAB|Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated |by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism |in man resulting in a small subpopulation with reduced TMA N-oxidation capacity |resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 |found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered |in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes |that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, |and xenobiotics. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2664 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2329[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127981 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002022 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002022 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2664 DBL|UNIGENE:Hs.2664 |OMIM:136131 |SNP:2329 ENZ|EC:1.14.13.8 |dimethylaniline monooxygenase (N-oxide-forming) activity ; GO:0004499 MAP|1q23-q25 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Fmo4; score == 906; expect == 0.0; MEOW:MGgn0043974 (80%) |species == rat; score == 699; expect == 0.0; MEOW:ref|NP_653148.1| (78%) |species == chimp; score == 602; expect == 2e-172; MEOW:sp|Q8HZ70|Q8HZ70 (55%) |species == chimp; score == 581; expect == 7e-168; MEOW:sp|AAP57529|AAP57529 (52%) |species == Human; gene == FMO3; score == 579; expect == 2e-165; MEOW:HUgn0002328 (52%) |species == rat; score == 560; expect == 8e-160; MEOW:ref|XP_346449.1| (52%) |species == Human; gene == FMO1; score == 550; expect == 1e-156; MEOW:HUgn0002326 (52%) |species == Human; gene == FMO2; score == 544; expect == 5e-155; MEOW:HUgn0002327 (55%) |species == Human; gene == FMO5; score == 543; expect == 1e-154; MEOW:HUgn0002330 (53%) |species == Human; gene == LOC375037; score == 473; expect == 2e-133; MEOW:HUgn0375037 (46%) |species == Worm; gene == fmo-13; score == 377; expect == 1e-104; MEOW:CEgn0022013 (40%) |species == Worm; gene == fmo-15; score == 368; expect == 5e-102; MEOW:CEgn0012809 (42%) |species == Worm; gene == fmo-11; score == 361; expect == 5e-100; MEOW:CEgn0013494 (39%) |species == Worm; gene == fmo-14; score == 332; expect == 3.4e-91; MEOW:CEgn0011642 (36%) |species == Worm; gene == fmo-12; score == 327; expect == 1.3e-89; MEOW:CEgn0013497 (38%) |species == Mosquito; gene == LOC22373; score == 162; expect == 3.1e-40; MEOW:AGgn0022373 (28%) |species == Mosquito; score == 147; expect == 1.1e-35; MEOW:AGgn0028857 (27%) |species == Fruitfly; gene == Fmo-1; score == 132; expect == 3.9e-31; MEOW:FBgn0034943 (35%) |species == Mosquito; gene == LOC10229; score == 131; expect == 8.3e-31; MEOW:AGgn0010229 (35%) } # EOR GENR { RETE|ID 1 HUgn0002330 CHR 1 1 DID 1 LocusLink:2330 MAP 1 1q21.1 NAM 1 flavin containing monooxygenase 5 ORG 1 Homo sapiens SYM 1 FMO5 ID|HUgn0002330 DID|LocusLink:2330 ORG|Homo sapiens RSQ|REFSEQ:NM_001461 RPA|REFPROT:NP_001452 DBA|XM:NM_001461 |NA:AK022172 |NA:BC020872 |NA:BC035687 |NA:L37080 |NA:Z47553 |NA:none PAC|XP:NP_001452 SYM|FMO5 NAM|flavin containing monooxygenase 5 FNC|flavin containing monooxygenase 5 |electron transport ; GO:0006118 |biological_process unknown ; GO:0000004 REAB|Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated |by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism |in man resulting in a small subpopulation with reduced TMA N-oxidation capacity |resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 |found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered |in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes |that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, |and xenobiotics. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=396595 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2330[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335372 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001461 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001461 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=396595 DBL|UNIGENE:Hs.396595 |OMIM:603957 |SNP:2330 ENZ|EC:1.14.13.8 |dimethylaniline monooxygenase (N-oxide-forming) activity ; GO:0004499 |disulfide oxidoreductase activity ; GO:0015036 MAP|1q21.1 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == rat; score == 936; expect == 0.0; MEOW:ref|XP_346631.1| (84%) |species == Mouse; gene == Fmo5; score == 932; expect == 0.0; MEOW:MGgn0004365 (83%) |species == chimp; score == 642; expect == 0.0; MEOW:sp|Q8HZ70|Q8HZ70 (56%) |species == Human; gene == FMO2; score == 593; expect == 7e-170; MEOW:HUgn0002327 (58%) |species == Human; gene == FMO3; score == 559; expect == 2e-159; MEOW:HUgn0002328 (55%) |species == chimp; score == 559; expect == 2e-161; MEOW:sp|AAP57529|AAP57529 (55%) |species == Human; gene == FMO1; score == 554; expect == 5e-158; MEOW:HUgn0002326 (52%) |species == Human; gene == FMO4; score == 543; expect == 1e-154; MEOW:HUgn0002329 (53%) |species == Worm; gene == fmo-13; score == 449; expect == 2e-126; MEOW:CEgn0022013 (44%) |species == Worm; gene == fmo-15; score == 442; expect == 2e-124; MEOW:CEgn0012809 (44%) |species == Worm; gene == fmo-11; score == 438; expect == 2e-123; MEOW:CEgn0013494 (44%) |species == Worm; gene == fmo-12; score == 437; expect == 7e-123; MEOW:CEgn0013497 (43%) |species == Worm; gene == fmo-14; score == 417; expect == 1e-116; MEOW:CEgn0011642 (42%) |species == Mosquito; gene == LOC22373; score == 176; expect == 2.1e-44; MEOW:AGgn0022373 (31%) |species == Mosquito; score == 158; expect == 4.8e-39; MEOW:AGgn0028857 (29%) |species == Weed; gene == At1g19250; score == 149; expect == 2.7e-36; MEOW:ATgn0000820 (27%) |species == rice; score == 134; expect == 1.2e-31; MEOW:gnl|TIGR|8352.m01274 (27%) |species == Fruitfly; gene == Fmo-2; score == 132; expect == 2.8e-31; MEOW:FBgn0033079 (36%) } # EOR GENR { RETE|ID 1 HUgn0002331 CHR 1 1 DID 1 LocusLink:2331 MAP 1 1q32 NAM 1 fibromodulin ORG 1 Homo sapiens SYM 1 FMOD ID|HUgn0002331 DID|LocusLink:2331 ORG|Homo sapiens RSQ|REFSEQ:NM_002023 RPA|REFPROT:NP_002014 DBA|XM:NM_002023 |NA:X72913 |NA:AK092899 |NA:BC035281 |NA:U05291 |NA:X75546 |NA:none PAC|XP:NP_002014 SYM|FMOD NAM|fibromodulin SYN|SLRR2E FNC|fibromodulin precursor REAB|Fibromodulin is a member of a family of small interstitial proteoglycans, containing |a central region composed of leucine-rich repeats with 4 keratan sulfate chains |flanked by disulfide-bonded terminal domains. It may participate in the assembly |of the extracellular matrix as it interacts with type I and type II collagen fibrils |and inhibits fibrillogenesis in vitro. It may also regulate TGF-beta activities |by sequestering TGF-beta into the extracellular matrix. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=442844 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2331[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:228979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002023 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002023 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=442844 DBL|UNIGENE:Hs.442844 |OMIM:600245 |SNP:2331 MAP|1q32 HG|species == Mouse; gene == Fmod; score == 648; expect == 0.0; MEOW:MGgn0004366 (92%) |species == rat; score == 648; expect == 0.0; MEOW:ref|NP_542429.1| (92%) |species == Human; gene == LUM; score == 303; expect == 1.3e-82; MEOW:HUgn0004060 (45%) |species == Human; gene == PRELP; score == 258; expect == 4.9e-69; MEOW:HUgn0005549 (41%) |species == Human; gene == KERA; score == 248; expect == 3.9e-66; MEOW:HUgn0011081 (40%) } # EOR GENR { RETE|ID 1 HUgn0002332 CHR 1 X DID 1 LocusLink:2332 MAP 1 Xq27.3 NAM 1 fragile X mental retardation 1 ORG 1 Homo sapiens SYM 1 FMR1 ID|HUgn0002332 DID|LocusLink:2332 ORG|Homo sapiens RSQ|REFSEQ:NM_002024 RPA|REFPROT:NP_002015 DBA|XM:NM_002024 |NA:L29074 |NA:BC038998 |NA:M67468 |NA:S65791 |NA:X69962 |NA:none PAC|XP:NP_002015 SYM|FMR1 NAM|fragile X mental retardation 1 SYN|FMRP |FRAXA FNC|fragile X mental retardation 1 REAB|X-linked mental retardation associated with marXq28, or fragile X syndrome, is characterized |by moderate to severe mental retardation, macroorchidism, large ears, prominent |jaw, and high-pitched jocular speech. Expression is variable, with mental retardation |being the most common feature. This phenotype is associated with mutations in the |FMR1 gene. McCabe et al. (1999) [PubMed 10398250] summarized the proceedings of |a workshop on the fragile X syndrome held in December 1998.[supplied by OMIM] CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89764 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2332[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129038 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002024 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002024 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89764 |http://www.geneclinics.org/query?mim=309550 |http://www.ncbi.nlm.nih.gov/disease/FMR1.html DBL|UNIGENE:Hs.89764 |OMIM:309550 |SNP:2332 |UWCM:129038.html |IXDB:8301 MAP|Xq27.3 PHP|Fragile X syndrome ENZ|mRNA binding ; GO:0003729 CEL|polysome ; GO:0005844 |nucleoplasm ; GO:0005654 |soluble fraction ; GO:0005625 |ribosome ; GO:0005840 HG|species == Mouse; gene == Fmr1; score == 1107; expect == 0.0; MEOW:MGgn0004367 (93%) |species == rat; score == 1050; expect == 0.0; MEOW:ref|NP_434691.1| (89%) |species == Zfish; gene == fmr1; score == 555; expect == 1e-159; MEOW:ZFgn0002609 (80%) |species == Human; gene == FXR1; score == 505; expect == 3e-143; MEOW:HUgn0008087 (73%) |species == Human; gene == FXR2; score == 485; expect == 3e-137; MEOW:HUgn0009513 (71%) |species == Fruitfly; gene == Fmr1; score == 273; expect == 1.6e-73; MEOW:FBgn0028734 (46%) } # EOR GENR { RETE|ID 1 HUgn0002334 CHR 1 X DID 1 LocusLink:2334 MAP 1 Xq28 NAM 1 fragile X mental retardation 2 ORG 1 Homo sapiens SYM 1 FMR2 ID|HUgn0002334 DID|LocusLink:2334 ORG|Homo sapiens RSQ|REFSEQ:NM_002025 RPA|REFPROT:NP_002016 DBA|XM:NM_002025 |NA:AF012624 |NA:AB102644 |NA:AJ001550 |NA:L76569 |NA:U48436 |NA:X95463 |NA:none PAC|XP:NP_002016 SYM|FMR2 NAM|fragile X mental retardation 2 SYN|MRX2 |OX19 |FRAXE FNC|fragile X mental retardation 2 |brain development ; GO:0007420 |learning and/or memory ; GO:0007611 |pathogenesis ; GO:0009405 |development ; GO:0007275 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=54472 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2334[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141566 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002025 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002025 |http://www.geneclinics.org/query?mim=309548 DBL|UNIGENE:Hs.54472 |OMIM:309548 |SNP:2334 MAP|Xq28 PHP|Mental retardation, X-linked, FRAXE type HG|species == chimp; score == 2045; expect == 0.0; MEOW:sp|BAC81114|BAC81114 (96%) |species == Mouse; gene == Fmr2; score == 1823; expect == 0.0; MEOW:MGgn0004368 (83%) |species == rat; score == 1243; expect == 0.0; MEOW:ref|XP_219832.2| (81%) |species == Human; gene == LAF4; score == 355; expect == 7.4e-98; MEOW:HUgn0003899 (34%) } # EOR GENR { RETE|ID 1 HUgn0002335 CHR 1 2 DID 1 LocusLink:2335 MAP 1 2q34 NAM 1 fibronectin 1 ORG 1 Homo sapiens SYM 1 FN1 ID|HUgn0002335 DID|LocusLink:2335 ORG|Homo sapiens RSQ|REFSEQ:NM_002026 |REFSEQ:NM_054034 RPA|REFPROT:NP_002017 |REFPROT:NP_473375 DBA|XM:NM_002026 |XM:NM_054034 |NA:M12549 |NA:M15801 |NA:X07717 |NA:X07718 |NA:AJ276395 |NA:AJ320525 |NA:AJ320526 |NA:AJ320527 |NA:AJ535086 |NA:AK026737 |NA:AL832202 |NA:AL832771 |NA:BC005858 |NA:BC016875 |NA:BX537590 |NA:BX538017 |NA:BX538018 |NA:BX538045 |NA:BX640608 |NA:BX640638 |NA:BX640731 |NA:BX640802 |NA:BX640803 |NA:BX640875 |NA:BX640920 |NA:BX640999 |NA:BX649182 |NA:M10905 |NA:M14059 |NA:M14060 |NA:M27589 |NA:M27590 |NA:U41724 |NA:U41850 |NA:U42404 |NA:U42455 |NA:U42456 |NA:U42457 |NA:U42458 |NA:U42592 |NA:U42593 |NA:U42594 |NA:U60067 |NA:U60068 |NA:X02761 PAC|XP:NP_002017 |XP:NP_473375 SYM|FN1 NAM|fibronectin 1 SYN|FN |CIG |FINC |LETS FNC|fibronectin 1 isoform 1 preproprotein |fibronectin 1 isoform 2 preproprotein |cell adhesion ; GO:0007155 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 REAB|This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in |plasma, and in a dimeric or multimeric form at the cell surface and in extracellular |matrix. Fibronectin is involved in cell adhesion and migration processes including |embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The |gene has three regions subject to alternative splicing, with the potential to produce |20 different transcript variants. However, the full length sequence of only two |variants is known. CHR|2 PRD|cold-insoluble globulin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418138 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2335[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119135 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002026 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002026 DBL|UNIGENE:Hs.418138 |OMIM:135600 |SNP:2335 MAP|2q34 ENZ|cell adhesion molecule activity ; GO:0005194 CEL|extracellular matrix ; GO:0005578 |soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == rat; score == 2689; expect == 0.0; MEOW:ref|NP_062016.1| (69%) |species == Zfish; gene == fn1; score == 1282; expect == 0.0; MEOW:ZFgn0000738 (68%) |species == Mouse; gene == Fn1; score == 559; expect == 4e-159; MEOW:MGgn0004370 (90%) |species == Human; gene == COL12A1; score == 365; expect == 2e-100; MEOW:HUgn0001303 (25%) |species == Human; gene == TNC; score == 359; expect == 8.8e-99; MEOW:HUgn0003371 (23%) |species == Human; gene == TNR; score == 353; expect == 3.8e-97; MEOW:HUgn0007143 (30%) |species == Human; gene == TNN; score == 315; expect == 1.4e-85; MEOW:HUgn0063923 (29%) |species == Fruitfly; gene == Ptp10D; score == 162; expect == 1.3e-39; MEOW:FBgn0004370 (21%) |species == Mosquito; score == 161; expect == 2.7e-39; MEOW:AGgn0013354 (22%) |species == Fruitfly; gene == Ptp4E; score == 142; expect == 1.8e-33; MEOW:FBgn0004368 (20%) |species == Mosquito; score == 133; expect == 7.9e-31; MEOW:AGgn0006103 (22%) } # EOR GENR { RETE|ID 1 HUgn0002336 DID 1 LocusLink:2336 NAM 1 frontonasal dysplasia ORG 1 Homo sapiens SYM 1 FND ID|HUgn0002336 DID|LocusLink:2336 ORG|Homo sapiens SYM|FND NAM|frontonasal dysplasia URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265284 } # EOR GENR { RETE|ID 1 HUgn0002337 CHR 1 2 DID 1 LocusLink:2337 MAP 1 2p16-p14 NAM 1 fibronectin-like 1 ORG 1 Homo sapiens SYM 1 FNL1 ID|HUgn0002337 DID|LocusLink:2337 ORG|Homo sapiens SYM|FNL1 NAM|fibronectin-like 1 CHR|2 MAP|2p16-p14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119136 } # EOR GENR { RETE|ID 1 HUgn0002338 CHR 1 19 DID 1 LocusLink:2338 MAP 1 19p NAM 1 fibronectin receptor, beta polypeptide-like ORG 1 Homo sapiens SYM 1 FNRBL ID|HUgn0002338 DID|LocusLink:2338 CLA|Pseudogene ORG|Homo sapiens SYM|FNRBL NAM|fibronectin receptor, beta polypeptide-like SYN|ITGB1L CHR|19 PRD|Fibronectin receptor, beta subunit, pseudogene (insertion polymorphism) MAP|19p URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119916 } # EOR GENR { RETE|ID 1 HUgn0002339 CHR 1 8 DID 1 LocusLink:2339 MAP 1 8p22-q11 NAM 1 farnesyltransferase, CAAX box, alpha ORG 1 Homo sapiens SYM 1 FNTA ID|HUgn0002339 DID|LocusLink:2339 ORG|Homo sapiens RSQ|REFSEQ:NM_002027 RPA|REFPROT:NP_002018 DBA|XM:NM_002027 |NA:AK123002 |NA:BC017029 |NA:BC037295 |NA:BT009854 |NA:L00634 |NA:L10413 PAC|XP:NP_002018 SYM|FNTA NAM|farnesyltransferase, CAAX box, alpha SYN|FPTA |PGGT1A FNC|farnesyltransferase, CAAX box, alpha |C-terminal protein farnesylation ; GO:0006503 |C-terminal protein geranylgeranylation ; GO:0006504 |TGFbeta receptor signaling pathway ; GO:0007179 CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=356463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2339[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138173 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002027 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002027 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=356463 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00130 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.356463 |OMIM:134635 |SNP:2339 ENZ|EC:2.5.1.- |protein farnesyltransferase activity ; GO:0004660 |protein geranylgeranyltransferase activity ; GO:0004661 MAP|8p22-q11 PHP|Alpha subunit of CAAX farnesyltransferase and GGTase-I; transfers farnesyl and geranylgeranyl groups to proteins CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Fnta; score == 624; expect == 3e-179; MEOW:MGgn0004374 (92%) |species == rat; score == 622; expect == 1e-178; MEOW:ref|NP_036979.1| (94%) |species == Human; gene == LOC283226; score == 387; expect == 4e-108; MEOW:HUgn0283226 (87%) |species == Mosquito; score == 330; expect == 8.5e-91; MEOW:AGgn0020029 (50%) |species == Fruitfly; gene == CG2976; score == 327; expect == 4.3e-90; MEOW:FBgn0031633 (48%) |species == rice; score == 240; expect == 1.4e-63; MEOW:gnl|TIGR|8357.m02875 (54%) |species == Weed; gene == At3g59380; score == 237; expect == 7.0e-63; MEOW:ATgn0012350 (41%) |species == Worm; gene == R02D3.5; score == 237; expect == 5.7e-63; MEOW:CEgn0014271 (40%) |species == Yeast; gene == RAM2; score == 142; expect == 2.4e-34; MEOW:SGgn0001502 (26%) } # EOR GENR { RETE|ID 1 HUgn0002340 CHR 1 11 DID 1 LocusLink:2340 MAP 1 11q13.4-q14.1 NAM 1 farnesyltransferase, CAAX box, alpha-like 1 ORG 1 Homo sapiens SYM 1 FNTAL1 ID|HUgn0002340 DID|LocusLink:2340 ORG|Homo sapiens SYM|FNTAL1 NAM|farnesyltransferase, CAAX box, alpha-like 1 CHR|11 MAP|11q13.4-q14.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:229988 } # EOR GENR { RETE|ID 1 HUgn0002341 CHR 1 13 DID 1 LocusLink:2341 MAP 1 13 NAM 1 farnesyltransferase, CAAX box, alpha-like 2 ORG 1 Homo sapiens SYM 1 FNTAL2 ID|HUgn0002341 DID|LocusLink:2341 ORG|Homo sapiens SYM|FNTAL2 NAM|farnesyltransferase, CAAX box, alpha-like 2 CHR|13 MAP|13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:230055 } # EOR GENR { RETE|ID 1 HUgn0002342 CHR 1 14 DID 1 LocusLink:2342 MAP 1 14q23-q24 NAM 1 farnesyltransferase, CAAX box, beta ORG 1 Homo sapiens SYM 1 FNTB ID|HUgn0002342 DID|LocusLink:2342 ORG|Homo sapiens RSQ|REFSEQ:NM_002028 RPA|REFPROT:NP_002019 DBA|XM:NM_002028 |NA:AK093298 |NA:BC013574 |NA:BC020232 |NA:BC035148 |NA:BC052775 |NA:L00635 |NA:L10414 |NA:none PAC|XP:NP_002019 SYM|FNTB NAM|farnesyltransferase, CAAX box, beta SYN|FPTB FNC|farnesyltransferase, CAAX box, beta |C-terminal protein farnesylation ; GO:0006503 CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=276 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2342[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138174 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002028 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=276 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00130 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.276 |OMIM:134636 |SNP:2342 ENZ|EC:2.5.1.- |protein farnesyltransferase activity ; GO:0004660 |prenyltransferase activity ; GO:0004659 |transferase activity ; GO:0016740 MAP|14q23-q24 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 869; expect == 0.0; MEOW:ref|NP_742031.1| (96%) |species == Mouse; gene == Fntb; score == 867; expect == 0.0; MEOW:MGgn0014280 (95%) |species == Fruitfly; gene == CG17565; score == 376; expect == 1e-104; MEOW:FBgn0038424 (52%) |species == Mosquito; gene == LOC8499; score == 365; expect == 2e-101; MEOW:AGgn0008499 (50%) |species == Worm; gene == F23B12.6; score == 320; expect == 5.2e-88; MEOW:CEgn0009163 (46%) |species == Weed; gene == ERA1; score == 308; expect == 3.9e-84; MEOW:ATgn0026467 (41%) |species == rice; score == 273; expect == 3.9e-73; MEOW:gnl|TIGR|8350.m04983 (40%) |species == Yeast; gene == RAM1; score == 233; expect == 4.5e-62; MEOW:SGgn0002248 (39%) |species == Human; gene == RABGGTB; score == 146; expect == 1.3e-35; MEOW:HUgn0005876 (28%) } # EOR GENR { RETE|ID 1 HUgn0002343 CHR 1 9 DID 1 LocusLink:2343 MAP 1 9 NAM 1 farnesyltransferase, CAAX box, beta-like 1 ORG 1 Homo sapiens SYM 1 FNTBL1 ID|HUgn0002343 DID|LocusLink:2343 ORG|Homo sapiens SYM|FNTBL1 NAM|farnesyltransferase, CAAX box, beta-like 1 CHR|9 MAP|9 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:230056 } # EOR GENR { RETE|ID 1 HUgn0002344 CHR 1 11 DID 1 LocusLink:2344 MAP 1 11q14 NAM 1 folate hydrolase 2 ORG 1 Homo sapiens SYM 1 FOLH2 ID|HUgn0002344 DID|LocusLink:2344 ORG|Homo sapiens DBA|NA:U93598 |NA:U93599 SYM|FOLH2 NAM|folate hydrolase 2 SYN|PSM |FOLHP CHR|11 PRD|folate hydrolase pseudogene MAP|11q14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9834886 } # EOR GENR { RETE|ID 1 HUgn0002345 CHR 1 8 DID 1 LocusLink:2345 MAP 1 8 NAM 1 fibronectin, influences presence on cell surface ORG 1 Homo sapiens SYM 1 FNZ ID|HUgn0002345 DID|LocusLink:2345 ORG|Homo sapiens SYM|FNZ NAM|fibronectin, influences presence on cell surface CHR|8 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119137 } # EOR GENR { RETE|ID 1 HUgn0002346 CHR 1 11 DID 1 LocusLink:2346 MAP 1 11p11.2 NAM 1 folate hydrolase (prostate-specific membrane antigen) 1 ORG 1 Homo sapiens SYM 1 FOLH1 ID|HUgn0002346 DID|LocusLink:2346 ORG|Homo sapiens RSQ|REFSEQ:NM_004476 RPA|REFPROT:NP_004467 DBA|XM:NM_004476 |NA:AF007544 |NA:AF176574 |NA:AY101595 |NA:BC025672 |NA:M99487 |NA:none PAC|XP:NP_004467 SYM|FOLH1 NAM|folate hydrolase (prostate-specific membrane antigen) 1 SYN|PSM |FOLH |GCP2 |PSMA |NAALAD1 |NAALAdase FNC|folate hydrolase (prostate-specific membrane antigen) 1 |proteolysis and peptidolysis ; GO:0006508 CHR|11 PRD|glutamate carboxylase II |folate hydrolase 1 (prostate-specific membrane antigen) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1915 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2346[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5276128 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004476 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004476 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1915 DBL|UNIGENE:Hs.1915 |OMIM:600934 |SNP:2346 MAP|11p11.2 ENZ|carboxypeptidase activity ; GO:0004180 |metallopeptidase activity ; GO:0008237 |dipeptidase activity ; GO:0016805 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Folh1; score == 1313; expect == 0.0; MEOW:MGgn0013919 (84%) |species == rat; score == 1288; expect == 0.0; MEOW:ref|NP_476533.1| (83%) |species == Human; gene == NAALAD2; score == 1075; expect == 0.0; MEOW:HUgn0010003 (69%) |species == rice; score == 399; expect == 5e-111; MEOW:gnl|TIGR|8350.m05024 (35%) |species == Weed; gene == At5g19740; score == 397; expect == 2e-110; MEOW:ATgn0025073 (35%) |species == Worm; gene == R57.1a; score == 392; expect == 3e-109; MEOW:CEgn0032399 (34%) |species == rice; score == 364; expect == 2e-100; MEOW:gnl|TIGR|8350.m05003 (33%) |species == Worm; gene == C35C5.2; score == 332; expect == 1.0e-90; MEOW:CEgn0006044 (32%) |species == Weed; gene == At3g54720; score == 320; expect == 2.4e-87; MEOW:ATgn0014067 (30%) |species == Yeast; gene == VPS70; score == 200; expect == 7.8e-52; MEOW:SGgn0003887 (27%) |species == Human; gene == PSMAL/GCP III; score == 885; expect == 0.0; MEOW:HUgn0219595 (97%) } # EOR GENR { RETE|ID 1 HUgn0002348 CHR 1 11 DID 1 LocusLink:2348 MAP 1 11q13.3-q14.1 NAM 1 folate receptor 1 (adult) ORG 1 Homo sapiens SYM 1 FOLR1 ID|HUgn0002348 DID|LocusLink:2348 ORG|Homo sapiens RSQ|REFSEQ:NM_000802 |REFSEQ:NM_016724 |REFSEQ:NM_016725 |REFSEQ:NM_016729 |REFSEQ:NM_016730 |REFSEQ:NM_016731 RPA|REFPROT:NP_000793 |REFPROT:NP_057936 |REFPROT:NP_057937 |REFPROT:NP_057941 |REFPROT:NP_057942 |REFPROT:NP_057943 DBA|XM:NM_000802 |XM:NM_016724 |XM:NM_016725 |XM:NM_016729 |XM:NM_016730 |XM:NM_016731 |NA:U20391 |NA:BC002947 |NA:J05013 |NA:M25317 |NA:M28099 |NA:M35069 |NA:S73474 |NA:S73490 |NA:U78793 |NA:U78794 |NA:X62753 |NA:none PAC|XP:NP_000793 |XP:NP_057936 |XP:NP_057937 |XP:NP_057941 |XP:NP_057942 |XP:NP_057943 SYM|FOLR1 NAM|folate receptor 1 (adult) SYN|FBP |FOLR |MOv18 |FR-alpha FNC|folate receptor 1 precursor |receptor mediated endocytosis ; GO:0006898 |folate transport ; GO:0015884 REAB|The protein encoded by this gene is a member of the folate receptor (FOLR) family. |Members of this gene family have a high affinity for folic acid and for several |reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate |to the interior of cells. This gene is composed of 7 exons; exons 1 through 4 encode |the 5' UTR and exons 4 through 7 encode the open reading frame. Due to the presence |of 2 promoters, multiple transcription start sites, and alternative splicing of |exons, several transcript variants are derived from this gene. These variants differ |in the lengths of 5' and 3' UTR, but they encode an identical amino acid sequence. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=73769 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2348[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128061 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016730 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016730 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=73769 DBL|UNIGENE:Hs.73769 |OMIM:136430 |SNP:2348 MAP|11q13.3-q14.1 PHP|?Congenital anomalies, susceptibility to ENZ|folic acid binding ; GO:0005542 |GPI-anchored membrane-bound receptor ; GO:0015025 |receptor activity ; GO:0004872 CEL|membrane ; GO:0016020 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Folr1; score == 450; expect == 4e-127; MEOW:MGgn0004377 (78%) |species == rat; score == 436; expect == 8e-123; MEOW:ref|NP_598211.1| (79%) |species == Human; gene == FOLR3; score == 401; expect == 2e-112; MEOW:HUgn0002352 (75%) |species == Human; gene == FOLR2; score == 399; expect == 8e-112; MEOW:HUgn0002350 (76%) |species == Mouse; gene == Folr2; score == 374; expect == 2e-104; MEOW:MGgn0004378 (71%) |species == rat; score == 369; expect == 9e-103; MEOW:ref|XP_215013.2| (67%) } # EOR GENR { RETE|ID 1 HUgn0002349 DID 1 LocusLink:2349 NAM 1 folate receptor 1 (adult) pseudogene ORG 1 Homo sapiens SYM 1 FOLR1P ID|HUgn0002349 DID|LocusLink:2349 CLA|Pseudogene ORG|Homo sapiens SYM|FOLR1P NAM|folate receptor 1 (adult) pseudogene URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132233 } # EOR GENR { RETE|ID 1 HUgn0002350 CHR 1 11 DID 1 LocusLink:2350 MAP 1 11q13.3-q13.5 NAM 1 folate receptor 2 (fetal) ORG 1 Homo sapiens SYM 1 FOLR2 ID|HUgn0002350 DID|LocusLink:2350 ORG|Homo sapiens RSQ|REFSEQ:NM_000803 RPA|REFPROT:NP_000794 DBA|XM:NM_000803 |NA:U02714 |NA:X69516 |NA:AF000380 |NA:BC058036 |NA:J02876 PAC|XP:NP_000794 SYM|FOLR2 NAM|folate receptor 2 (fetal) SYN|FR-P3 |FR-beta |FBP/PL-1 |beta-hFR FNC|folate receptor 2 precursor |folate transport ; GO:0015884 REAB|The protein encoded by this gene is a member of the folate receptor (FOLR) family. |Members of this gene family have a high affinity for folic acid and for several |reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate |to the interior of cells. This protein has a 68% and 79% sequence homology with |the FOLR1 and FOLR3 proteins, respectively. The FOLR2 protein was originally thought |to exist only in placenta, but is also detected in spleen, bone marrow, and thymus. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433159 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2350[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132232 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000803 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000803 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433159 DBL|UNIGENE:Hs.433159 |OMIM:136425 |SNP:2350 MAP|11q13.3-q13.5 ENZ|folic acid binding ; GO:0005542 CEL|membrane fraction ; GO:0005624 HG|species == Human; gene == FOLR3; score == 441; expect == 1e-124; MEOW:HUgn0002352 (82%) |species == rat; score == 424; expect == 2e-119; MEOW:ref|XP_215013.2| (74%) |species == Mouse; gene == Folr2; score == 419; expect == 4e-118; MEOW:MGgn0004378 (81%) |species == Human; gene == FOLR1; score == 399; expect == 8e-112; MEOW:HUgn0002348 (76%) |species == Mouse; gene == Folr1; score == 391; expect == 2e-109; MEOW:MGgn0004377 (73%) |species == rat; score == 386; expect == 5e-108; MEOW:ref|NP_598211.1| (74%) } # EOR GENR { RETE|ID 1 HUgn0002351 CHR 1 11 DID 1 LocusLink:2351 MAP 1 11q NAM 1 folate receptor 2 (fetal) like ORG 1 Homo sapiens SYM 1 FOLR2L ID|HUgn0002351 DID|LocusLink:2351 ORG|Homo sapiens SYM|FOLR2L NAM|folate receptor 2 (fetal) like CHR|11 MAP|11q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132234 } # EOR GENR { RETE|ID 1 HUgn0002352 CHR 1 11 DID 1 LocusLink:2352 MAP 1 11q13 NAM 1 folate receptor 3 (gamma) ORG 1 Homo sapiens SYM 1 FOLR3 ID|HUgn0002352 DID|LocusLink:2352 ORG|Homo sapiens RSQ|REFSEQ:NM_000804 RPA|REFPROT:NP_000795 DBA|XM:NM_000804 |NA:AF100161 |NA:U08470 |NA:U08471 |NA:Z32564 |NA:Z32633 |NA:none PAC|XP:NP_000795 SYM|FOLR3 NAM|folate receptor 3 (gamma) SYN|FR-G |FR-gamma |gamma-hFR FNC|folate receptor 3 precursor |folate transport ; GO:0015884 REAB|The protein encoded by this gene is a member of the folate receptor (FOLR) family. |Members of this gene family have a high affinity for folic acid and for several |reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate |to the interior of cells. This protein is constitutively secreted in hematopoietic |tissues and is a potential serum marker for certain hematopoietic malignancies. |This protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, |respectively. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=352 |http://www.gdb.org/gdb-bin/genera/accno?GDB:306562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000804 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000804 DBL|UNIGENE:Hs.352 |OMIM:602469 |SNP:2352 MAP|11q13 ENZ|folic acid binding ; GO:0005542 |GPI-anchored membrane-bound receptor ; GO:0015025 |receptor activity ; GO:0004872 CEL|membrane fraction ; GO:0005624 HG|species == Human; gene == FOLR2; score == 441; expect == 1e-124; MEOW:HUgn0002350 (82%) |species == Human; gene == FOLR1; score == 401; expect == 2e-112; MEOW:HUgn0002348 (75%) |species == Mouse; gene == Folr2; score == 401; expect == 3e-112; MEOW:MGgn0004378 (75%) |species == rat; score == 395; expect == 2e-110; MEOW:ref|XP_215013.2| (70%) |species == Mouse; gene == Folr1; score == 390; expect == 5e-109; MEOW:MGgn0004377 (72%) |species == rat; score == 383; expect == 5e-107; MEOW:ref|NP_598211.1| (72%) } # EOR GENR { RETE|ID 1 HUgn0002353 CHR 1 14 DID 1 LocusLink:2353 MAP 1 14q24.3 NAM 1 v-fos FBJ murine osteosarcoma viral oncogene homolog ORG 1 Homo sapiens SYM 1 FOS ID|HUgn0002353 DID|LocusLink:2353 ORG|Homo sapiens RSQ|REFSEQ:NM_005252 RPA|REFPROT:NP_005243 DBA|XM:NM_005252 |NA:AF111167 |NA:K00650 |NA:V01512 |NA:AK097379 |NA:BC004490 |NA:BX647104 |NA:none PAC|XP:NP_005243 SYM|FOS NAM|v-fos FBJ murine osteosarcoma viral oncogene homolog FNC|v-fos FBJ murine osteosarcoma viral oncogene homolog |DNA methylation ; GO:0006306 |cell growth and/or maintenance ; GO:0008151 |regulation of transcription from Pol II promoter ; GO:0006357 |inflammatory response ; GO:0006954 REAB|The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes |encode leucine zipper proteins that can dimerize with proteins of the JUN family, |thereby forming the transcription factor complex AP-1. As such, the FOS proteins |have been implicated as regulators of cell proliferation, differentiation, and transformation. | In some cases, expression of the FOS gene has also been associated with apoptotic |cell death. CHR|14 PRD|FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=25647 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2353[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119917 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005252 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005252 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=25647 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28212 DBL|UNIGENE:Hs.25647 |OMIM:164810 |SNP:2353 MAP|14q24.3 ENZ|specific RNA polymerase II transcription factor activity ; GO:0003704 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == rat; score == 587; expect == 3e-168; MEOW:ref|XP_234422.2| (94%) |species == Mouse; gene == Fos; score == 585; expect == 9e-168; MEOW:MGgn0004383 (93%) |species == Human; gene == FOSL2; score == 163; expect == 1.7e-40; MEOW:HUgn0002355 (42%) |species == Human; gene == FOSB; score == 147; expect == 7.3e-36; MEOW:HUgn0002354 (45%) } # EOR GENR { RETE|ID 1 HUgn0002354 CHR 1 19 DID 1 LocusLink:2354 MAP 1 19q13.32 NAM 1 FBJ murine osteosarcoma viral oncogene homolog B ORG 1 Homo sapiens SYM 1 FOSB ID|HUgn0002354 DID|LocusLink:2354 ORG|Homo sapiens RSQ|REFSEQ:NM_006732 RPA|REFPROT:NP_006723 DBA|XM:NM_006732 |NA:BC036724 |NA:L49169 |NA:none PAC|XP:NP_006723 SYM|FOSB NAM|FBJ murine osteosarcoma viral oncogene homolog B SYN|GOS3 |GOSB FNC|FBJ murine osteosarcoma viral oncogene homolog B |regulation of transcription, DNA-dependent ; GO:0006355 |behavior ; GO:0007610 |development ; GO:0007275 |regulation of cell cycle ; GO:0000074 |negative regulation of transcription from Pol II promoter ; GO:0000122 REAB|The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes |encode leucine zipper proteins that can dimerize with proteins of the JUN family, |thereby forming the transcription factor complex AP-1. As such, the FOS proteins |have been implicated as regulators of cell proliferation, differentiation, and transformation. CHR|19 PRD|G0S3 |Oncogene FOS-B URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75678 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2354[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132586 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006732 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006732 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75678 DBL|UNIGENE:Hs.75678 |OMIM:164772 |SNP:2354 MAP|19q13.32 ENZ|transcription factor binding ; GO:0008134 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fosb; score == 470; expect == 5e-133; MEOW:MGgn0004384 (95%) |species == rat; score == 464; expect == 4e-131; MEOW:ref|XP_218419.1| (95%) |species == Human; gene == FOS; score == 147; expect == 7.3e-36; MEOW:HUgn0002353 (45%) } # EOR GENR { RETE|ID 1 HUgn0002355 CHR 1 2 DID 1 LocusLink:2355 MAP 1 2p23-p22 NAM 1 FOS-like antigen 2 ORG 1 Homo sapiens SYM 1 FOSL2 ID|HUgn0002355 DID|LocusLink:2355 ORG|Homo sapiens RSQ|REFSEQ:NM_005253 RPA|REFPROT:NP_005244 DBA|XM:NM_005253 |NA:AK055579 |NA:BC022791 |NA:BQ574214 |NA:X16706 |NA:none PAC|XP:NP_005244 SYM|FOSL2 NAM|FOS-like antigen 2 SYN|FRA2 FNC|FOS-like antigen 2 |cell death ; GO:0008219 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes |encode leucine zipper proteins that can dimerize with proteins of the JUN family, |thereby forming the transcription factor complex AP-1. As such, the FOS proteins |have been implicated as regulators of cell proliferation, differentiation, and transformation. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=301612 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2355[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:273622 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005253 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005253 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=301612 DBL|UNIGENE:Hs.301612 |OMIM:601575 |SNP:2355 MAP|2p23-p22 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fosl2; score == 458; expect == 2e-129; MEOW:MGgn0004386 (93%) |species == rat; score == 164; expect == 1.1e-40; MEOW:ref|XP_234422.2| (43%) |species == Human; gene == FOS; score == 163; expect == 1.7e-40; MEOW:HUgn0002353 (42%) } # EOR GENR { RETE|ID 1 HUgn0002356 CHR 1 9 DID 1 LocusLink:2356 MAP 1 9cen-q34 NAM 1 folylpolyglutamate synthase ORG 1 Homo sapiens SYM 1 FPGS ID|HUgn0002356 DID|LocusLink:2356 ORG|Homo sapiens RSQ|REFSEQ:NM_004957 RPA|REFPROT:NP_004948 DBA|XM:NM_004957 |NA:AY007209 |NA:U24253 |NA:U40868 |NA:AK056920 |NA:BC007121 |NA:BC009901 |NA:M98045 |NA:none PAC|XP:NP_004948 SYM|FPGS NAM|folylpolyglutamate synthase FNC|folylpolyglutamate synthase |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 |regulation of transcription, DNA-dependent ; GO:0006355 |one-carbon compound metabolism ; GO:0006730 |biosynthesis ; GO:0009058 |folic acid and derivative biosynthesis ; GO:0009396 CHR|9 PRD|folylpolyglutamate synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=754 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2356[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119138 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004957 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004957 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=754 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00790 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA167 DBL|UNIGENE:Hs.754 |OMIM:136510 |SNP:2356 ENZ|EC:6.3.2.17 |tetrahydrofolylpolyglutamate synthase activity ; GO:0004326 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 |ligase activity ; GO:0016874 MAP|9cen-q34 CEL|cytosol ; GO:0005829 |mitochondrion ; GO:0005739 |nucleus ; GO:0005634 HG|species == Mouse; gene == Fpgs; score == 157; expect == 1.1e-38; MEOW:MGgn0004409 (90%) } # EOR GENR { RETE|ID 1 HUgn0002357 CHR 1 19 DID 1 LocusLink:2357 MAP 1 19q13.4 NAM 1 formyl peptide receptor 1 ORG 1 Homo sapiens SYM 1 FPR1 ID|HUgn0002357 DID|LocusLink:2357 ORG|Homo sapiens RSQ|REFSEQ:NM_002029 RPA|REFPROT:NP_002020 DBA|XM:NM_002029 |NA:L10820 |NA:BC005315 |NA:BQ016000 |NA:BT007429 |NA:CB993626 |NA:M37128 |NA:M60626 |NA:M60627 |NA:none PAC|XP:NP_002020 SYM|FPR1 NAM|formyl peptide receptor 1 SYN|FPR |FMLP FNC|formyl peptide receptor 1 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=753 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2357[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127999 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002029 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002029 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=753 DBL|UNIGENE:Hs.753 |OMIM:136537 |SNP:2357 MAP|19q13.4 HG|species == chimp; score == 682; expect == 0.0; MEOW:sp|P79241|FMLR_PANTR (98%) |species == Mouse; gene == Fpr1; score == 538; expect == 1e-153; MEOW:MGgn0004415 (75%) |species == rat; score == 514; expect == 3e-146; MEOW:ref|XP_218012.2| (74%) |species == Human; gene == FPRL1; score == 485; expect == 1e-137; MEOW:HUgn0002358 (68%) |species == Mouse; gene == Fpr-rs2; score == 455; expect == 1e-128; MEOW:MGgn0004411 (64%) |species == rat; score == 453; expect == 1e-127; MEOW:ref|XP_218013.1| (63%) |species == rat; score == 413; expect == 8e-116; MEOW:ref|XP_218016.1| (58%) |species == Human; gene == FPRL2; score == 398; expect == 2e-111; MEOW:HUgn0002359 (57%) |species == Zfish; gene == cxcr4b; score == 153; expect == 6.3e-39; MEOW:ZFgn0002126 (32%) |species == Fruitfly; gene == AlCR2; score == 151; expect == 4.5e-37; MEOW:FBgn0036789 (30%) |species == Zfish; gene == cxcr4a; score == 142; expect == 1.5e-35; MEOW:ZFgn0002418 (31%) |species == Zfish; gene == oprm1; score == 136; expect == 1.0e-33; MEOW:ZFgn0002044 (34%) |species == Zfish; gene == oprd1; score == 134; expect == 4.0e-33; MEOW:ZFgn0000223 (30%) |species == Fruitfly; gene == star1; score == 131; expect == 3.7e-31; MEOW:FBgn0036790 (30%) } # EOR GENR { RETE|ID 1 HUgn0002358 CHR 1 19 DID 1 LocusLink:2358 MAP 1 19q13.3-q13.4 NAM 1 formyl peptide receptor-like 1 ORG 1 Homo sapiens SYM 1 FPRL1 ID|HUgn0002358 DID|LocusLink:2358 ORG|Homo sapiens RSQ|REFSEQ:NM_001462 RPA|REFPROT:NP_001453 DBA|XM:NM_001462 |NA:AF054013 |NA:BC029125 |NA:D10922 |NA:M76672 |NA:M84562 |NA:M88107 |NA:U81501 |NA:X63819 |NA:none PAC|XP:NP_001453 SYM|FPRL1 NAM|formyl peptide receptor-like 1 SYN|ALXR |HM63 |FMLPX |FPR2A |FPRH1 |FPRH2 |LXA4R |FMLP-R-II FNC|formyl peptide receptor-like 1 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cell adhesion ; GO:0007155 |cell motility ; GO:0006928 |inflammatory response ; GO:0006954 CHR|19 PRD|lipoxin A4 receptor (formyl peptide receptor related) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99855 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=502270 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2358[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127554 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001462 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001462 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=99855 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=502270 DBL|UNIGENE:Hs.99855 |UNIGENE:Hs.502270 |OMIM:136538 |SNP:2358 MAP|19q13.3-q13.4 ENZ|N-formyl peptide receptor activity ; GO:0004982 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == chimp; score == 610; expect == 5e-177; MEOW:sp|P79242|FML1_PANTR (98%) |species == rat; score == 550; expect == 3e-157; MEOW:ref|XP_218013.1| (75%) |species == Human; gene == FPRL2; score == 511; expect == 2e-145; MEOW:HUgn0002359 (71%) |species == chimp; score == 509; expect == 1e-144; MEOW:sp|P79243|FML2_PANTR (72%) |species == Mouse; gene == Fpr-rs2; score == 502; expect == 1e-142; MEOW:MGgn0004411 (76%) |species == Mouse; gene == Fprl1; score == 491; expect == 3e-139; MEOW:MGgn0004416 (73%) |species == Human; gene == FPR1; score == 485; expect == 1e-137; MEOW:HUgn0002357 (68%) |species == Mouse; gene == Fpr-rs1; score == 485; expect == 2e-137; MEOW:MGgn0004410 (73%) |species == Mouse; gene == Fpr1; score == 451; expect == 3e-127; MEOW:MGgn0004415 (64%) |species == Mouse; gene == Fpr-rs7; score == 417; expect == 6e-117; MEOW:MGgn0043977 (60%) |species == Mouse; gene == Fpr-rs3; score == 416; expect == 1e-116; MEOW:MGgn0004412 (65%) } # EOR GENR { RETE|ID 1 HUgn0002359 CHR 1 19 DID 1 LocusLink:2359 MAP 1 19q13.3-q13.4 NAM 1 formyl peptide receptor-like 2 ORG 1 Homo sapiens SYM 1 FPRL2 ID|HUgn0002359 DID|LocusLink:2359 ORG|Homo sapiens RSQ|REFSEQ:NM_002030 RPA|REFPROT:NP_002021 DBA|XM:NM_002030 |NA:AK123030 |NA:BC059388 |NA:CB996360 |NA:M76673 |NA:none PAC|XP:NP_002021 SYM|FPRL2 NAM|formyl peptide receptor-like 2 SYN|FMLPY |FPRH1 |FPRH2 |RMLP-R-I FNC|formyl peptide receptor-like 2 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |chemotaxis ; GO:0006935 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511953 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128855 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002030 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002030 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511953 DBL|UNIGENE:Hs.511953 |OMIM:136539 |SNP:2359 MAP|19q13.3-q13.4 ENZ|N-formyl peptide receptor activity ; GO:0004982 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == chimp; score == 698; expect == 0.0; MEOW:sp|P79243|FML2_PANTR (98%) |species == Human; gene == FPRL1; score == 511; expect == 2e-145; MEOW:HUgn0002358 (71%) |species == Mouse; gene == Fpr-rs2; score == 461; expect == 1e-130; MEOW:MGgn0004411 (62%) |species == rat; score == 460; expect == 5e-130; MEOW:ref|XP_218013.1| (61%) |species == Mouse; gene == Fprl1; score == 443; expect == 4e-125; MEOW:MGgn0004416 (60%) |species == Mouse; gene == Fpr-rs1; score == 434; expect == 2e-122; MEOW:MGgn0004410 (59%) |species == rat; score == 423; expect == 6e-119; MEOW:ref|XP_218016.1| (58%) |species == rat; score == 384; expect == 6e-107; MEOW:ref|XP_344849.1| (56%) |species == rat; score == 380; expect == 6e-106; MEOW:ref|XP_218022.1| (54%) |species == Mouse; gene == Fpr-rs4; score == 378; expect == 2e-105; MEOW:MGgn0004413 (56%) |species == Mouse; gene == Fpr1; score == 374; expect == 4e-104; MEOW:MGgn0004415 (54%) |species == Mouse; gene == Fpr-rs3; score == 372; expect == 8e-104; MEOW:MGgn0004412 (54%) |species == Zfish; gene == cxcr4a; score == 152; expect == 1.4e-38; MEOW:ZFgn0002418 (30%) |species == Zfish; gene == cxcr4b; score == 148; expect == 2.7e-37; MEOW:ZFgn0002126 (31%) |species == Fruitfly; gene == AlCR2; score == 136; expect == 8.9e-33; MEOW:FBgn0036789 (26%) |species == Zfish; gene == oprd1; score == 132; expect == 1.5e-32; MEOW:ZFgn0000223 (30%) |species == Zfish; gene == oprm1; score == 129; expect == 1.3e-31; MEOW:ZFgn0002044 (32%) } # EOR GENR { RETE|ID 1 HUgn0002360 CHR 1 1 DID 1 LocusLink:2360 MAP 1 1p36 NAM 1 fragile site, aphidicolin type, common, fra(1)(p36) ORG 1 Homo sapiens SYM 1 FRA1A ID|HUgn0002360 DID|LocusLink:2360 ORG|Homo sapiens SYM|FRA1A NAM|fragile site, aphidicolin type, common, fra(1)(p36) CHR|1 MAP|1p36 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119168 } # EOR GENR { RETE|ID 1 HUgn0002361 CHR 1 1 DID 1 LocusLink:2361 MAP 1 1p32 NAM 1 fragile site, aphidicolin type, common, fra(1)(p32) ORG 1 Homo sapiens SYM 1 FRA1B ID|HUgn0002361 DID|LocusLink:2361 ORG|Homo sapiens SYM|FRA1B NAM|fragile site, aphidicolin type, common, fra(1)(p32) CHR|1 MAP|1p32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119169 } # EOR GENR { RETE|ID 1 HUgn0002362 CHR 1 1 DID 1 LocusLink:2362 MAP 1 1p31.2 NAM 1 fragile site, aphidicolin type, common, fra(1)(p31.2) ORG 1 Homo sapiens SYM 1 FRA1C ID|HUgn0002362 DID|LocusLink:2362 ORG|Homo sapiens SYM|FRA1C NAM|fragile site, aphidicolin type, common, fra(1)(p31.2) CHR|1 MAP|1p31.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119170 } # EOR GENR { RETE|ID 1 HUgn0002363 CHR 1 1 DID 1 LocusLink:2363 MAP 1 1p22 NAM 1 fragile site, aphidicolin type, common, fra(1)(p22) ORG 1 Homo sapiens SYM 1 FRA1D ID|HUgn0002363 DID|LocusLink:2363 ORG|Homo sapiens SYM|FRA1D NAM|fragile site, aphidicolin type, common, fra(1)(p22) CHR|1 MAP|1p22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119171 } # EOR GENR { RETE|ID 1 HUgn0002364 CHR 1 1 DID 1 LocusLink:2364 MAP 1 1p21.2 NAM 1 fragile site, aphidicolin type, common, fra(1)(p21.2) ORG 1 Homo sapiens SYM 1 FRA1E ID|HUgn0002364 DID|LocusLink:2364 ORG|Homo sapiens SYM|FRA1E NAM|fragile site, aphidicolin type, common, fra(1)(p21.2) CHR|1 MAP|1p21.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119172 } # EOR GENR { RETE|ID 1 HUgn0002365 CHR 1 1 DID 1 LocusLink:2365 MAP 1 1q21 NAM 1 fragile site, aphidicolin type, common, fra(1)(q21) ORG 1 Homo sapiens SYM 1 FRA1F ID|HUgn0002365 DID|LocusLink:2365 ORG|Homo sapiens SYM|FRA1F NAM|fragile site, aphidicolin type, common, fra(1)(q21) CHR|1 MAP|1q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119932 } # EOR GENR { RETE|ID 1 HUgn0002366 CHR 1 1 DID 1 LocusLink:2366 MAP 1 1q25.1 NAM 1 fragile site, aphidicolin type, common, fra(1)(q25.1) ORG 1 Homo sapiens SYM 1 FRA1G ID|HUgn0002366 DID|LocusLink:2366 ORG|Homo sapiens SYM|FRA1G NAM|fragile site, aphidicolin type, common, fra(1)(q25.1) CHR|1 MAP|1q25.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119173 } # EOR GENR { RETE|ID 1 HUgn0002367 CHR 1 1 DID 1 LocusLink:2367 MAP 1 1q42.1 NAM 1 fragile site, 5-azacytidine type, common, fra(1)(q42) ORG 1 Homo sapiens SYM 1 FRA1H ID|HUgn0002367 DID|LocusLink:2367 ORG|Homo sapiens SYM|FRA1H NAM|fragile site, 5-azacytidine type, common, fra(1)(q42) CHR|1 MAP|1q42.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119174 } # EOR GENR { RETE|ID 1 HUgn0002368 CHR 1 1 DID 1 LocusLink:2368 MAP 1 1q44 NAM 1 fragile site, aphidicolin type, common, fra(1)(q44) ORG 1 Homo sapiens SYM 1 FRA1I ID|HUgn0002368 DID|LocusLink:2368 ORG|Homo sapiens SYM|FRA1I NAM|fragile site, aphidicolin type, common, fra(1)(q44) CHR|1 MAP|1q44 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119933 } # EOR GENR { RETE|ID 1 HUgn0002369 CHR 1 1 DID 1 LocusLink:2369 MAP 1 1q12 NAM 1 fragile site, 5-azacytidine type, common, fra(1)(q12) ORG 1 Homo sapiens SYM 1 FRA1J ID|HUgn0002369 DID|LocusLink:2369 ORG|Homo sapiens SYM|FRA1J NAM|fragile site, 5-azacytidine type, common, fra(1)(q12) CHR|1 MAP|1q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119934 } # EOR GENR { RETE|ID 1 HUgn0002370 CHR 1 1 DID 1 LocusLink:2370 MAP 1 1q31 NAM 1 fragile site, aphidicolin type, common, fra(1)(q31) ORG 1 Homo sapiens SYM 1 FRA1K ID|HUgn0002370 DID|LocusLink:2370 ORG|Homo sapiens SYM|FRA1K NAM|fragile site, aphidicolin type, common, fra(1)(q31) CHR|1 MAP|1q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119935 } # EOR GENR { RETE|ID 1 HUgn0002371 CHR 1 1 DID 1 LocusLink:2371 MAP 1 1p31 NAM 1 fragile site, aphidicolin type, common, fra(1)(p31) ORG 1 Homo sapiens SYM 1 FRA1L ID|HUgn0002371 DID|LocusLink:2371 ORG|Homo sapiens SYM|FRA1L NAM|fragile site, aphidicolin type, common, fra(1)(p31) CHR|1 MAP|1p31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119936 } # EOR GENR { RETE|ID 1 HUgn0002372 CHR 1 1 DID 1 LocusLink:2372 MAP 1 1p21.3 NAM 1 fragile site, folic acid type, rare, fra(1)(p21.3) ORG 1 Homo sapiens SYM 1 FRA1M ID|HUgn0002372 DID|LocusLink:2372 ORG|Homo sapiens SYM|FRA1M NAM|fragile site, folic acid type, rare, fra(1)(p21.3) CHR|1 MAP|1p21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134036 } # EOR GENR { RETE|ID 1 HUgn0002373 CHR 1 2 DID 1 LocusLink:2373 MAP 1 2q11.2 NAM 1 fragile site, folic acid type, rare, fra(2)(q11.2) ORG 1 Homo sapiens SYM 1 FRA2A ID|HUgn0002373 DID|LocusLink:2373 ORG|Homo sapiens SYM|FRA2A NAM|fragile site, folic acid type, rare, fra(2)(q11.2) CHR|2 MAP|2q11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119179 } # EOR GENR { RETE|ID 1 HUgn0002374 CHR 1 2 DID 1 LocusLink:2374 MAP 1 2q13 NAM 1 fragile site, folic acid type, rare, fra(2)(q13) ORG 1 Homo sapiens SYM 1 FRA2B ID|HUgn0002374 DID|LocusLink:2374 ORG|Homo sapiens SYM|FRA2B NAM|fragile site, folic acid type, rare, fra(2)(q13) CHR|2 MAP|2q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119180 } # EOR GENR { RETE|ID 1 HUgn0002375 CHR 1 2 DID 1 LocusLink:2375 MAP 1 2p24.2 NAM 1 fragile site, aphidicolin type, common, fra(2)(p24.2) ORG 1 Homo sapiens SYM 1 FRA2C ID|HUgn0002375 DID|LocusLink:2375 ORG|Homo sapiens SYM|FRA2C NAM|fragile site, aphidicolin type, common, fra(2)(p24.2) CHR|2 MAP|2p24.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119181 } # EOR GENR { RETE|ID 1 HUgn0002376 CHR 1 2 DID 1 LocusLink:2376 MAP 1 2p16.2 NAM 1 fragile site, aphidicolin type, common, fra(2)(p16.2) ORG 1 Homo sapiens SYM 1 FRA2D ID|HUgn0002376 DID|LocusLink:2376 ORG|Homo sapiens SYM|FRA2D NAM|fragile site, aphidicolin type, common, fra(2)(p16.2) CHR|2 MAP|2p16.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119182 } # EOR GENR { RETE|ID 1 HUgn0002377 CHR 1 2 DID 1 LocusLink:2377 MAP 1 2p13 NAM 1 fragile site, aphidicolin type, common, fra(2)(p13) ORG 1 Homo sapiens SYM 1 FRA2E ID|HUgn0002377 DID|LocusLink:2377 ORG|Homo sapiens SYM|FRA2E NAM|fragile site, aphidicolin type, common, fra(2)(p13) CHR|2 MAP|2p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119183 } # EOR GENR { RETE|ID 1 HUgn0002378 CHR 1 2 DID 1 LocusLink:2378 MAP 1 2q21.3 NAM 1 fragile site, aphidicolin type, common, fra(2)(q21.3) ORG 1 Homo sapiens SYM 1 FRA2F ID|HUgn0002378 DID|LocusLink:2378 ORG|Homo sapiens SYM|FRA2F NAM|fragile site, aphidicolin type, common, fra(2)(q21.3) CHR|2 MAP|2q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119184 } # EOR GENR { RETE|ID 1 HUgn0002379 CHR 1 2 DID 1 LocusLink:2379 MAP 1 2q31 NAM 1 fragile site, aphidicolin type, common, fra(2)(q31) ORG 1 Homo sapiens SYM 1 FRA2G ID|HUgn0002379 DID|LocusLink:2379 ORG|Homo sapiens SYM|FRA2G NAM|fragile site, aphidicolin type, common, fra(2)(q31) CHR|2 MAP|2q31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119185 } # EOR GENR { RETE|ID 1 HUgn0002380 CHR 1 2 DID 1 LocusLink:2380 MAP 1 2q32.1 NAM 1 fragile site, aphidicolin type, common, fra(2)(q32.1) ORG 1 Homo sapiens SYM 1 FRA2H ID|HUgn0002380 DID|LocusLink:2380 ORG|Homo sapiens SYM|FRA2H NAM|fragile site, aphidicolin type, common, fra(2)(q32.1) CHR|2 MAP|2q32.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119186 } # EOR GENR { RETE|ID 1 HUgn0002381 CHR 1 2 DID 1 LocusLink:2381 MAP 1 2q33 NAM 1 fragile site, aphidicolin type, common, fra(2)(q33) ORG 1 Homo sapiens SYM 1 FRA2I ID|HUgn0002381 DID|LocusLink:2381 ORG|Homo sapiens SYM|FRA2I NAM|fragile site, aphidicolin type, common, fra(2)(q33) CHR|2 MAP|2q33 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119187 } # EOR GENR { RETE|ID 1 HUgn0002382 CHR 1 2 DID 1 LocusLink:2382 MAP 1 2q37.3 NAM 1 fragile site, aphidicolin type, common, fra(2)(q37.3) ORG 1 Homo sapiens SYM 1 FRA2J ID|HUgn0002382 DID|LocusLink:2382 ORG|Homo sapiens SYM|FRA2J NAM|fragile site, aphidicolin type, common, fra(2)(q37.3) CHR|2 MAP|2q37.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119188 } # EOR GENR { RETE|ID 1 HUgn0002383 CHR 1 2 DID 1 LocusLink:2383 MAP 1 2q22.3 NAM 1 fragile site, folic acid type, rare, fra(2)(q22.3) ORG 1 Homo sapiens SYM 1 FRA2K ID|HUgn0002383 DID|LocusLink:2383 ORG|Homo sapiens SYM|FRA2K NAM|fragile site, folic acid type, rare, fra(2)(q22.3) CHR|2 MAP|2q22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119189 } # EOR GENR { RETE|ID 1 HUgn0002384 CHR 1 3 DID 1 LocusLink:2384 MAP 1 3p24.2 NAM 1 fragile site, aphidicolin type, common, fra(3)(p24.2) ORG 1 Homo sapiens SYM 1 FRA3A ID|HUgn0002384 DID|LocusLink:2384 ORG|Homo sapiens SYM|FRA3A NAM|fragile site, aphidicolin type, common, fra(3)(p24.2) CHR|3 MAP|3p24.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119190 } # EOR GENR { RETE|ID 1 HUgn0002385 CHR 1 3 DID 1 LocusLink:2385 MAP 1 3p14.2 NAM 1 fragile site, aphidicolin type, common, fra(3)(p14.2) ORG 1 Homo sapiens SYM 1 FRA3B ID|HUgn0002385 DID|LocusLink:2385 ORG|Homo sapiens DBA|NA:U06118 |NA:U39799 |NA:U39800 |NA:U39801 |NA:U40401 |NA:U66722 |NA:U85047 SYM|FRA3B NAM|fragile site, aphidicolin type, common, fra(3)(p14.2) CHR|3 MAP|3p14.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119191 } # EOR GENR { RETE|ID 1 HUgn0002386 CHR 1 3 DID 1 LocusLink:2386 MAP 1 3q27 NAM 1 fragile site, aphidicolin type, common, fra(3)(q27) ORG 1 Homo sapiens SYM 1 FRA3C ID|HUgn0002386 DID|LocusLink:2386 ORG|Homo sapiens SYM|FRA3C NAM|fragile site, aphidicolin type, common, fra(3)(q27) CHR|3 MAP|3q27 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119192 } # EOR GENR { RETE|ID 1 HUgn0002387 CHR 1 3 DID 1 LocusLink:2387 MAP 1 3q25 NAM 1 fragile site, aphidicolin type, common, fra(3)(q25) ORG 1 Homo sapiens SYM 1 FRA3D ID|HUgn0002387 DID|LocusLink:2387 ORG|Homo sapiens SYM|FRA3D NAM|fragile site, aphidicolin type, common, fra(3)(q25) CHR|3 MAP|3q25 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119937 } # EOR GENR { RETE|ID 1 HUgn0002388 CHR 1 4 DID 1 LocusLink:2388 MAP 1 4p16.1 NAM 1 fragile site, aphidicolin type, common, fra(4)(p16.1) ORG 1 Homo sapiens SYM 1 FRA4A ID|HUgn0002388 DID|LocusLink:2388 ORG|Homo sapiens SYM|FRA4A NAM|fragile site, aphidicolin type, common, fra(4)(p16.1) CHR|4 MAP|4p16.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119193 } # EOR GENR { RETE|ID 1 HUgn0002389 CHR 1 4 DID 1 LocusLink:2389 MAP 1 4q12 NAM 1 fragile site, BrdU type, common, fra(4)(q12) ORG 1 Homo sapiens SYM 1 FRA4B ID|HUgn0002389 DID|LocusLink:2389 ORG|Homo sapiens SYM|FRA4B NAM|fragile site, BrdU type, common, fra(4)(q12) CHR|4 MAP|4q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119194 } # EOR GENR { RETE|ID 1 HUgn0002390 CHR 1 4 DID 1 LocusLink:2390 MAP 1 4q31.1 NAM 1 fragile site, aphidicolin type, common, fra(4)(q31.1) ORG 1 Homo sapiens SYM 1 FRA4C ID|HUgn0002390 DID|LocusLink:2390 ORG|Homo sapiens SYM|FRA4C NAM|fragile site, aphidicolin type, common, fra(4)(q31.1) CHR|4 MAP|4q31.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119195 } # EOR GENR { RETE|ID 1 HUgn0002391 CHR 1 4 DID 1 LocusLink:2391 MAP 1 4p15 NAM 1 fragile site, aphidicolin type, common, fra(4)(p15) ORG 1 Homo sapiens SYM 1 FRA4D ID|HUgn0002391 DID|LocusLink:2391 ORG|Homo sapiens SYM|FRA4D NAM|fragile site, aphidicolin type, common, fra(4)(p15) CHR|4 MAP|4p15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119196 } # EOR GENR { RETE|ID 1 HUgn0002392 CHR 1 4 DID 1 LocusLink:2392 MAP 1 4q27 NAM 1 fragile site, unclassified, common, fra(4)(q27) ORG 1 Homo sapiens SYM 1 FRA4E ID|HUgn0002392 DID|LocusLink:2392 ORG|Homo sapiens SYM|FRA4E NAM|fragile site, unclassified, common, fra(4)(q27) CHR|4 MAP|4q27 } # EOR GENR { RETE|ID 1 HUgn0002393 CHR 1 5 DID 1 LocusLink:2393 MAP 1 5p13 NAM 1 fragile site, BrdU type, common, fra(5)(p13) ORG 1 Homo sapiens SYM 1 FRA5A ID|HUgn0002393 DID|LocusLink:2393 ORG|Homo sapiens SYM|FRA5A NAM|fragile site, BrdU type, common, fra(5)(p13) CHR|5 MAP|5p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119198 } # EOR GENR { RETE|ID 1 HUgn0002394 CHR 1 5 DID 1 LocusLink:2394 MAP 1 5q15 NAM 1 fragile site, BrdU type, common, fra(5)(q15) ORG 1 Homo sapiens SYM 1 FRA5B ID|HUgn0002394 DID|LocusLink:2394 ORG|Homo sapiens SYM|FRA5B NAM|fragile site, BrdU type, common, fra(5)(q15) CHR|5 MAP|5q15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119199 } # EOR GENR { RETE|ID 1 HUgn0002395 CHR 1 9 DID 1 LocusLink:2395 MAP 1 9q13-q21.1 NAM 1 Friedreich ataxia ORG 1 Homo sapiens SYM 1 FRDA ID|HUgn0002395 DID|LocusLink:2395 ORG|Homo sapiens RSQ|REFSEQ:NM_000144 |REFSEQ:NM_181425 RPA|REFPROT:NP_000135 |REFPROT:NP_852090 DBA|XM:NM_000144 |XM:NM_181425 |NA:AF028240 |NA:U43752 |NA:U43753 |NA:U93173 |NA:U93174 |NA:U93175 |NA:Y13751 |NA:AI951739 |NA:BC023633 |NA:BC048097 |NA:U43747 |NA:none PAC|XP:NP_000135 |XP:NP_852090 SYM|FRDA NAM|Friedreich ataxia SYN|FA |Fxn |X25 |FARR |MGC57199 |frataxin FNC|frataxin isoform 1 preproprotein |frataxin isoform 2 preproprotein |iron ion homeostasis ; GO:0006879 |electron transport ; GO:0006118 |pathogenesis ; GO:0009405 |synaptic transmission ; GO:0007268 |vesicle-mediated transport ; GO:0016192 REAB|This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. |The protein functions in regulating mitochondrial iron transport and respiration. |The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. |Alternative splicing occurs at this locus and two transcript variants encoding distinct |isoforms have been identified. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=360041 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2395[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119951 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_181425 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_181425 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=360041 |http://www.geneclinics.org/query?mim=229300 |http://www.geneclinics.org/query?mim=606829 |http://www.ncbi.nlm.nih.gov/disease/Frda.html DBL|UNIGENE:Hs.360041 |OMIM:606829 |SNP:2395 |UWCM:119951.html MAP|9q13-q21.1 PHP|Friedreich ataxia |Friedreich ataxia with retained reflexes ENZ|iron ion transporter activity ; GO:0005381 |iron-sulfur electron transfer carrier ; GO:0008042 |inositol/phosphatidylinositol kinase activity ; GO:0004428 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Frda; score == 287; expect == 2.4e-78; MEOW:MGgn0004419 (73%) |species == rat; score == 174; expect == 1.0e-43; MEOW:ref|XP_345013.1| (59%) |species == Fruitfly; gene == fh; score == 132; expect == 1.1e-31; MEOW:FBgn0030092 (53%) } # EOR GENR { RETE|ID 1 HUgn0002396 CHR 1 5 DID 1 LocusLink:2396 MAP 1 5q31.1 NAM 1 fragile site, aphidicolin type, common, fra(5)(q31.1) ORG 1 Homo sapiens SYM 1 FRA5C ID|HUgn0002396 DID|LocusLink:2396 ORG|Homo sapiens SYM|FRA5C NAM|fragile site, aphidicolin type, common, fra(5)(q31.1) CHR|5 MAP|5q31.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119200 } # EOR GENR { RETE|ID 1 HUgn0002397 CHR 1 5 DID 1 LocusLink:2397 MAP 1 5q15 NAM 1 fragile site, aphidicolin type, common, fra(5)(q15) ORG 1 Homo sapiens SYM 1 FRA5D ID|HUgn0002397 DID|LocusLink:2397 ORG|Homo sapiens SYM|FRA5D NAM|fragile site, aphidicolin type, common, fra(5)(q15) CHR|5 MAP|5q15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119938 } # EOR GENR { RETE|ID 1 HUgn0002398 CHR 1 5 DID 1 LocusLink:2398 MAP 1 5p14 NAM 1 fragile site, aphidicolin type, common, fra(5)(p14) ORG 1 Homo sapiens SYM 1 FRA5E ID|HUgn0002398 DID|LocusLink:2398 ORG|Homo sapiens SYM|FRA5E NAM|fragile site, aphidicolin type, common, fra(5)(p14) CHR|5 MAP|5p14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119939 } # EOR GENR { RETE|ID 1 HUgn0002399 CHR 1 5 DID 1 LocusLink:2399 MAP 1 5q21 NAM 1 fragile site, aphidicolin type, common, fra(5)(q21) ORG 1 Homo sapiens SYM 1 FRA5F ID|HUgn0002399 DID|LocusLink:2399 ORG|Homo sapiens SYM|FRA5F NAM|fragile site, aphidicolin type, common, fra(5)(q21) CHR|5 MAP|5q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119940 } # EOR GENR { RETE|ID 1 HUgn0002400 CHR 1 5 DID 1 LocusLink:2400 MAP 1 5q35 NAM 1 fragile site, folic acid type, rare, fra(5)(q35) ORG 1 Homo sapiens SYM 1 FRA5G ID|HUgn0002400 DID|LocusLink:2400 ORG|Homo sapiens SYM|FRA5G NAM|fragile site, folic acid type, rare, fra(5)(q35) CHR|5 MAP|5q35 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134037 } # EOR GENR { RETE|ID 1 HUgn0002401 CHR 1 6 DID 1 LocusLink:2401 MAP 1 6p23 NAM 1 fragile site, folic acid type, rare, fra(6)(p23) ORG 1 Homo sapiens SYM 1 FRA6A ID|HUgn0002401 DID|LocusLink:2401 ORG|Homo sapiens SYM|FRA6A NAM|fragile site, folic acid type, rare, fra(6)(p23) CHR|6 MAP|6p23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119201 } # EOR GENR { RETE|ID 1 HUgn0002402 CHR 1 6 DID 1 LocusLink:2402 MAP 1 6p25.1 NAM 1 fragile site, aphidicolin type, common, fra(6)(p25.1) ORG 1 Homo sapiens SYM 1 FRA6B ID|HUgn0002402 DID|LocusLink:2402 ORG|Homo sapiens SYM|FRA6B NAM|fragile site, aphidicolin type, common, fra(6)(p25.1) CHR|6 MAP|6p25.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119202 } # EOR GENR { RETE|ID 1 HUgn0002403 CHR 1 6 DID 1 LocusLink:2403 MAP 1 6p22.2 NAM 1 fragile site, aphidicolin type, common, fra(6)(p22.2) ORG 1 Homo sapiens SYM 1 FRA6C ID|HUgn0002403 DID|LocusLink:2403 ORG|Homo sapiens SYM|FRA6C NAM|fragile site, aphidicolin type, common, fra(6)(p22.2) CHR|6 MAP|6p22.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119203 } # EOR GENR { RETE|ID 1 HUgn0002404 CHR 1 6 DID 1 LocusLink:2404 MAP 1 6q13 NAM 1 fragile site, BrdU type, common, fra(6)(q13) ORG 1 Homo sapiens SYM 1 FRA6D ID|HUgn0002404 DID|LocusLink:2404 ORG|Homo sapiens SYM|FRA6D NAM|fragile site, BrdU type, common, fra(6)(q13) CHR|6 MAP|6q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119204 } # EOR GENR { RETE|ID 1 HUgn0002405 CHR 1 6 DID 1 LocusLink:2405 MAP 1 6q26 NAM 1 fragile site, aphidicolin type, common, fra(6)(q26) ORG 1 Homo sapiens SYM 1 FRA6E ID|HUgn0002405 DID|LocusLink:2405 ORG|Homo sapiens SYM|FRA6E NAM|fragile site, aphidicolin type, common, fra(6)(q26) CHR|6 MAP|6q26 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119941 } # EOR GENR { RETE|ID 1 HUgn0002406 CHR 1 6 DID 1 LocusLink:2406 MAP 1 6q21 NAM 1 fragile site, aphidicolin type, common, fra(6)(q21) ORG 1 Homo sapiens SYM 1 FRA6F ID|HUgn0002406 DID|LocusLink:2406 ORG|Homo sapiens SYM|FRA6F NAM|fragile site, aphidicolin type, common, fra(6)(q21) CHR|6 MAP|6q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119942 } # EOR GENR { RETE|ID 1 HUgn0002407 CHR 1 6 DID 1 LocusLink:2407 MAP 1 6q15 NAM 1 fragile site, aphidicolin type, common, fra(6)(q15) ORG 1 Homo sapiens SYM 1 FRA6G ID|HUgn0002407 DID|LocusLink:2407 ORG|Homo sapiens SYM|FRA6G NAM|fragile site, aphidicolin type, common, fra(6)(q15) CHR|6 MAP|6q15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119943 } # EOR GENR { RETE|ID 1 HUgn0002408 CHR 1 7 DID 1 LocusLink:2408 MAP 1 7p11.2 NAM 1 fragile site, folic acid type, rare, fra(7)(p11.2) ORG 1 Homo sapiens SYM 1 FRA7A ID|HUgn0002408 DID|LocusLink:2408 ORG|Homo sapiens SYM|FRA7A NAM|fragile site, folic acid type, rare, fra(7)(p11.2) CHR|7 MAP|7p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119205 } # EOR GENR { RETE|ID 1 HUgn0002409 CHR 1 7 DID 1 LocusLink:2409 MAP 1 7p22 NAM 1 fragile site, aphidicolin type, common, fra(7)(p22) ORG 1 Homo sapiens SYM 1 FRA7B ID|HUgn0002409 DID|LocusLink:2409 ORG|Homo sapiens SYM|FRA7B NAM|fragile site, aphidicolin type, common, fra(7)(p22) CHR|7 MAP|7p22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119206 } # EOR GENR { RETE|ID 1 HUgn0002410 CHR 1 7 DID 1 LocusLink:2410 MAP 1 7p14.2 NAM 1 fragile site, aphidicolin type, common, fra(7)(p14.2) ORG 1 Homo sapiens SYM 1 FRA7C ID|HUgn0002410 DID|LocusLink:2410 ORG|Homo sapiens SYM|FRA7C NAM|fragile site, aphidicolin type, common, fra(7)(p14.2) CHR|7 MAP|7p14.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119207 } # EOR GENR { RETE|ID 1 HUgn0002411 CHR 1 7 DID 1 LocusLink:2411 MAP 1 7p13 NAM 1 fragile site, aphidicolin type, common, fra(7)(p13) ORG 1 Homo sapiens SYM 1 FRA7D ID|HUgn0002411 DID|LocusLink:2411 ORG|Homo sapiens SYM|FRA7D NAM|fragile site, aphidicolin type, common, fra(7)(p13) CHR|7 MAP|7p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119208 } # EOR GENR { RETE|ID 1 HUgn0002412 CHR 1 7 DID 1 LocusLink:2412 MAP 1 7q21.2 NAM 1 fragile site, aphidicolin type, common, fra(7)(q21.2) ORG 1 Homo sapiens SYM 1 FRA7E ID|HUgn0002412 DID|LocusLink:2412 ORG|Homo sapiens SYM|FRA7E NAM|fragile site, aphidicolin type, common, fra(7)(q21.2) CHR|7 MAP|7q21.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119209 } # EOR GENR { RETE|ID 1 HUgn0002413 CHR 1 7 DID 1 LocusLink:2413 MAP 1 7q22 NAM 1 fragile site, aphidicolin type, common, fra(7)(q22) ORG 1 Homo sapiens SYM 1 FRA7F ID|HUgn0002413 DID|LocusLink:2413 ORG|Homo sapiens SYM|FRA7F NAM|fragile site, aphidicolin type, common, fra(7)(q22) CHR|7 MAP|7q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119210 } # EOR GENR { RETE|ID 1 HUgn0002414 CHR 1 7 DID 1 LocusLink:2414 MAP 1 7q31.2 NAM 1 fragile site, aphidicolin type, common, fra(7)(q31.2) ORG 1 Homo sapiens SYM 1 FRA7G ID|HUgn0002414 DID|LocusLink:2414 ORG|Homo sapiens SYM|FRA7G NAM|fragile site, aphidicolin type, common, fra(7)(q31.2) SYN|D7S486 CHR|7 MAP|7q31.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119211 } # EOR GENR { RETE|ID 1 HUgn0002415 CHR 1 7 DID 1 LocusLink:2415 MAP 1 7q32.3 NAM 1 fragile site, aphidicolin type, common, fra(7)(q32.3) ORG 1 Homo sapiens SYM 1 FRA7H ID|HUgn0002415 DID|LocusLink:2415 ORG|Homo sapiens SYM|FRA7H NAM|fragile site, aphidicolin type, common, fra(7)(q32.3) CHR|7 MAP|7q32.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119212 } # EOR GENR { RETE|ID 1 HUgn0002416 CHR 1 7 DID 1 LocusLink:2416 MAP 1 7q36 NAM 1 fragile site, aphidicolin type, common, fra(7)(q36) ORG 1 Homo sapiens SYM 1 FRA7I ID|HUgn0002416 DID|LocusLink:2416 ORG|Homo sapiens SYM|FRA7I NAM|fragile site, aphidicolin type, common, fra(7)(q36) CHR|7 MAP|7q36 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119213 } # EOR GENR { RETE|ID 1 HUgn0002417 CHR 1 7 DID 1 LocusLink:2417 MAP 1 7q11 NAM 1 fragile site, aphidicolin type, common, fra(7)(q11) ORG 1 Homo sapiens SYM 1 FRA7J ID|HUgn0002417 DID|LocusLink:2417 ORG|Homo sapiens SYM|FRA7J NAM|fragile site, aphidicolin type, common, fra(7)(q11) CHR|7 MAP|7q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119944 } # EOR GENR { RETE|ID 1 HUgn0002418 CHR 1 8 DID 1 LocusLink:2418 MAP 1 8q22.3 NAM 1 fragile site, folic acid type, rare, fra(8)(q22.3) ORG 1 Homo sapiens SYM 1 FRA8A ID|HUgn0002418 DID|LocusLink:2418 ORG|Homo sapiens SYM|FRA8A NAM|fragile site, folic acid type, rare, fra(8)(q22.3) CHR|8 MAP|8q22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119214 } # EOR GENR { RETE|ID 1 HUgn0002419 CHR 1 8 DID 1 LocusLink:2419 MAP 1 8q22.1 NAM 1 fragile site, aphidicolin type, common, fra(8)(q22.1) ORG 1 Homo sapiens SYM 1 FRA8B ID|HUgn0002419 DID|LocusLink:2419 ORG|Homo sapiens SYM|FRA8B NAM|fragile site, aphidicolin type, common, fra(8)(q22.1) CHR|8 MAP|8q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119215 } # EOR GENR { RETE|ID 1 HUgn0002420 DID 1 LocusLink:2420 NAM 1 Friedreich ataxia 2 ORG 1 Homo sapiens SYM 1 FRDA2 ID|HUgn0002420 DID|LocusLink:2420 ORG|Homo sapiens SYM|FRDA2 NAM|Friedreich ataxia 2 PHP|Friedreich ataxia URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9097651 } # EOR GENR { RETE|ID 1 HUgn0002421 CHR 1 8 DID 1 LocusLink:2421 MAP 1 8q24.1 NAM 1 fragile site, aphidicolin type, common, fra(8)(q24.1) ORG 1 Homo sapiens SYM 1 FRA8C ID|HUgn0002421 DID|LocusLink:2421 ORG|Homo sapiens SYM|FRA8C NAM|fragile site, aphidicolin type, common, fra(8)(q24.1) CHR|8 MAP|8q24.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119216 } # EOR GENR { RETE|ID 1 HUgn0002422 CHR 1 8 DID 1 LocusLink:2422 MAP 1 8q24.3 NAM 1 fragile site, aphidicolin type, common, fra(8)(q24.3) ORG 1 Homo sapiens SYM 1 FRA8D ID|HUgn0002422 DID|LocusLink:2422 ORG|Homo sapiens SYM|FRA8D NAM|fragile site, aphidicolin type, common, fra(8)(q24.3) CHR|8 MAP|8q24.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119217 } # EOR GENR { RETE|ID 1 HUgn0002423 CHR 1 8 DID 1 LocusLink:2423 MAP 1 8q24.1 NAM 1 fragile site, distamycin A type, rare, fra(8)(q24.1) ORG 1 Homo sapiens SYM 1 FRA8E ID|HUgn0002423 DID|LocusLink:2423 ORG|Homo sapiens SYM|FRA8E NAM|fragile site, distamycin A type, rare, fra(8)(q24.1) CHR|8 MAP|8q24.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119218 } # EOR GENR { RETE|ID 1 HUgn0002424 CHR 1 8 DID 1 LocusLink:2424 MAP 1 8q13 NAM 1 fragile site, unclassified, rare, fra(8)(q13) ORG 1 Homo sapiens SYM 1 FRA8F ID|HUgn0002424 DID|LocusLink:2424 ORG|Homo sapiens SYM|FRA8F NAM|fragile site, unclassified, rare, fra(8)(q13) CHR|8 MAP|8q13 } # EOR GENR { RETE|ID 1 HUgn0002425 CHR 1 9 DID 1 LocusLink:2425 MAP 1 9p21 NAM 1 fragile site, folic acid type, rare, fra(9)(p21) ORG 1 Homo sapiens SYM 1 FRA9A ID|HUgn0002425 DID|LocusLink:2425 ORG|Homo sapiens SYM|FRA9A NAM|fragile site, folic acid type, rare, fra(9)(p21) CHR|9 MAP|9p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119220 } # EOR GENR { RETE|ID 1 HUgn0002426 CHR 1 9 DID 1 LocusLink:2426 MAP 1 9q32 NAM 1 fragile site, folic acid type, rare, fra(9)(q32) ORG 1 Homo sapiens SYM 1 FRA9B ID|HUgn0002426 DID|LocusLink:2426 ORG|Homo sapiens SYM|FRA9B NAM|fragile site, folic acid type, rare, fra(9)(q32) CHR|9 MAP|9q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119221 } # EOR GENR { RETE|ID 1 HUgn0002427 CHR 1 9 DID 1 LocusLink:2427 MAP 1 9p21 NAM 1 fragile site, BrdU type, common, fra(9)(p21) ORG 1 Homo sapiens SYM 1 FRA9C ID|HUgn0002427 DID|LocusLink:2427 ORG|Homo sapiens SYM|FRA9C NAM|fragile site, BrdU type, common, fra(9)(p21) CHR|9 MAP|9p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119222 } # EOR GENR { RETE|ID 1 HUgn0002428 CHR 1 9 DID 1 LocusLink:2428 MAP 1 9q22.1 NAM 1 fragile site, aphidicolin type, common, fra(9)(q22.1) ORG 1 Homo sapiens SYM 1 FRA9D ID|HUgn0002428 DID|LocusLink:2428 ORG|Homo sapiens SYM|FRA9D NAM|fragile site, aphidicolin type, common, fra(9)(q22.1) CHR|9 MAP|9q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119945 } # EOR GENR { RETE|ID 1 HUgn0002429 CHR 1 9 DID 1 LocusLink:2429 MAP 1 9q32 NAM 1 fragile site, aphidicolin type, common, fra(9)(q32) ORG 1 Homo sapiens SYM 1 FRA9E ID|HUgn0002429 DID|LocusLink:2429 ORG|Homo sapiens SYM|FRA9E NAM|fragile site, aphidicolin type, common, fra(9)(q32) CHR|9 MAP|9q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119223 } # EOR GENR { RETE|ID 1 HUgn0002430 CHR 1 9 DID 1 LocusLink:2430 MAP 1 9q12 NAM 1 fragile site, 5-azacytidine type, common, fra(9)(q12) ORG 1 Homo sapiens SYM 1 FRA9F ID|HUgn0002430 DID|LocusLink:2430 ORG|Homo sapiens SYM|FRA9F NAM|fragile site, 5-azacytidine type, common, fra(9)(q12) CHR|9 MAP|9q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119946 } # EOR GENR { RETE|ID 1 HUgn0002431 CHR 1 10 DID 1 LocusLink:2431 MAP 1 10q23.3 or 10q24.2 NAM 1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) ORG 1 Homo sapiens SYM 1 FRA10A ID|HUgn0002431 DID|LocusLink:2431 ORG|Homo sapiens SYM|FRA10A NAM|fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) CHR|10 MAP|10q23.3 or 10q24.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119139 } # EOR GENR { RETE|ID 1 HUgn0002432 CHR 1 10 DID 1 LocusLink:2432 MAP 1 10q25.2 NAM 1 fragile site, BrdU type, rare, fra(10)(q25.2) ORG 1 Homo sapiens SYM 1 FRA10B ID|HUgn0002432 DID|LocusLink:2432 ORG|Homo sapiens DBA|NA:AF053500 |NA:AF053501 |NA:AF053502 |NA:AF053503 |NA:AF053504 |NA:AF053505 |NA:AF053506 |NA:AF053507 |NA:AF053508 |NA:AF053509 |NA:AF053510 |NA:AF053511 |NA:AF053512 |NA:AF053513 |NA:AF053514 |NA:AF053515 |NA:AF053516 |NA:AF053517 |NA:AF053518 |NA:AF053519 SYM|FRA10B NAM|fragile site, BrdU type, rare, fra(10)(q25.2) CHR|10 MAP|10q25.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119140 } # EOR GENR { RETE|ID 1 HUgn0002433 CHR 1 10 DID 1 LocusLink:2433 MAP 1 10q21 NAM 1 fragile site, BrdU type, common, fra(10)(q21) ORG 1 Homo sapiens SYM 1 FRA10C ID|HUgn0002433 DID|LocusLink:2433 ORG|Homo sapiens SYM|FRA10C NAM|fragile site, BrdU type, common, fra(10)(q21) CHR|10 MAP|10q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119141 } # EOR GENR { RETE|ID 1 HUgn0002434 CHR 1 10 DID 1 LocusLink:2434 MAP 1 10q22.1 NAM 1 fragile site, aphidicolin type, common, fra(10)(q22.1) ORG 1 Homo sapiens SYM 1 FRA10D ID|HUgn0002434 DID|LocusLink:2434 ORG|Homo sapiens SYM|FRA10D NAM|fragile site, aphidicolin type, common, fra(10)(q22.1) CHR|10 MAP|10q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119142 } # EOR GENR { RETE|ID 1 HUgn0002435 CHR 1 10 DID 1 LocusLink:2435 MAP 1 10q25.2 NAM 1 fragile site, aphidicolin type, common, fra(10)(q25.2) ORG 1 Homo sapiens SYM 1 FRA10E ID|HUgn0002435 DID|LocusLink:2435 ORG|Homo sapiens SYM|FRA10E NAM|fragile site, aphidicolin type, common, fra(10)(q25.2) CHR|10 MAP|10q25.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119143 } # EOR GENR { RETE|ID 1 HUgn0002436 CHR 1 10 DID 1 LocusLink:2436 MAP 1 10q26.1 NAM 1 fragile site, aphidicolin type, common, fra(10)(q26.1) ORG 1 Homo sapiens SYM 1 FRA10F ID|HUgn0002436 DID|LocusLink:2436 ORG|Homo sapiens SYM|FRA10F NAM|fragile site, aphidicolin type, common, fra(10)(q26.1) CHR|10 MAP|10q26.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119923 } # EOR GENR { RETE|ID 1 HUgn0002437 CHR 1 10 DID 1 LocusLink:2437 MAP 1 10q11.2 NAM 1 fragile site, aphidicolin type, common, fra(10)(q11.2) ORG 1 Homo sapiens SYM 1 FRA10G ID|HUgn0002437 DID|LocusLink:2437 ORG|Homo sapiens SYM|FRA10G NAM|fragile site, aphidicolin type, common, fra(10)(q11.2) CHR|10 MAP|10q11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125177 } # EOR GENR { RETE|ID 1 HUgn0002438 CHR 1 11 DID 1 LocusLink:2438 MAP 1 11q13.3 NAM 1 fragile site, folic acid type, rare, fra(11)(q13.3) ORG 1 Homo sapiens SYM 1 FRA11A ID|HUgn0002438 DID|LocusLink:2438 ORG|Homo sapiens SYM|FRA11A NAM|fragile site, folic acid type, rare, fra(11)(q13.3) CHR|11 MAP|11q13.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119144 } # EOR GENR { RETE|ID 1 HUgn0002439 CHR 1 11 DID 1 LocusLink:2439 MAP 1 11q23.3 NAM 1 fragile site, folic acid type, rare, fra(11)(q23.3) ORG 1 Homo sapiens SYM 1 FRA11B ID|HUgn0002439 DID|LocusLink:2439 ORG|Homo sapiens SYM|FRA11B NAM|fragile site, folic acid type, rare, fra(11)(q23.3) CHR|11 MAP|11q23.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119145 } # EOR GENR { RETE|ID 1 HUgn0002440 CHR 1 11 DID 1 LocusLink:2440 MAP 1 11p15.1 NAM 1 fragile site, aphidicolin type, common, fra(11)(p15.1) ORG 1 Homo sapiens SYM 1 FRA11C ID|HUgn0002440 DID|LocusLink:2440 ORG|Homo sapiens SYM|FRA11C NAM|fragile site, aphidicolin type, common, fra(11)(p15.1) CHR|11 MAP|11p15.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119146 } # EOR GENR { RETE|ID 1 HUgn0002441 CHR 1 11 DID 1 LocusLink:2441 MAP 1 11p14.2 NAM 1 fragile site, aphidicolin type, common, fra(11)(p14.2) ORG 1 Homo sapiens SYM 1 FRA11D ID|HUgn0002441 DID|LocusLink:2441 ORG|Homo sapiens SYM|FRA11D NAM|fragile site, aphidicolin type, common, fra(11)(p14.2) CHR|11 MAP|11p14.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119147 } # EOR GENR { RETE|ID 1 HUgn0002442 CHR 1 11 DID 1 LocusLink:2442 MAP 1 11p13 NAM 1 fragile site, aphidicolin type, common, fra(11)(p13) ORG 1 Homo sapiens SYM 1 FRA11E ID|HUgn0002442 DID|LocusLink:2442 ORG|Homo sapiens SYM|FRA11E NAM|fragile site, aphidicolin type, common, fra(11)(p13) CHR|11 MAP|11p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119148 } # EOR GENR { RETE|ID 1 HUgn0002443 CHR 1 11 DID 1 LocusLink:2443 MAP 1 11q14.2 NAM 1 fragile site, aphidicolin type, common, fra(11)(q14.2) ORG 1 Homo sapiens SYM 1 FRA11F ID|HUgn0002443 DID|LocusLink:2443 ORG|Homo sapiens SYM|FRA11F NAM|fragile site, aphidicolin type, common, fra(11)(q14.2) CHR|11 MAP|11q14.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119149 } # EOR GENR { RETE|ID 1 HUgn0002444 CHR 1 6 DID 1 LocusLink:2444 MAP 1 6q21-q22.3 NAM 1 fyn-related kinase ORG 1 Homo sapiens SYM 1 FRK ID|HUgn0002444 DID|LocusLink:2444 ORG|Homo sapiens RSQ|REFSEQ:NM_002031 RPA|REFPROT:NP_002022 DBA|XM:NM_002031 |NA:AL121963 |NA:AL357141 |NA:BC012916 |NA:U00803 |NA:U22322 |NA:none PAC|XP:NP_002022 SYM|FRK NAM|fyn-related kinase SYN|GTK |RAK |PTK5 FNC|fyn-related kinase |negative regulation of cell proliferation ; GO:0008285 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene belongs to the TYR family of protein kinases. This |tyrosine kinase is a nuclear protein and may function during G1 and S phase of the |cell cycle and suppress growth. CHR|6 PRD|tyrosine-protein kinase FRK |PTK5 protein tyrosine kinase 5 |nuclear tyrosine protein kinase RAK URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89426 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2444[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:355675 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002031 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002031 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89426 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28373 DBL|UNIGENE:Hs.89426 |OMIM:606573 |SNP:2444 ENZ|EC:2.7.1.112 |non-membrane spanning protein tyrosine kinase activity ; GO:0004715 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|6q21-q22.3 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Frk; score == 934; expect == 0.0; MEOW:MGgn0004424 (88%) |species == Mosquito; score == 595; expect == 1e-170; MEOW:AGgn0005994 (63%) |species == Worm; gene == src-2; score == 516; expect == 1e-146; MEOW:CEgn0026958 (54%) |species == rat; score == 490; expect == 1e-138; MEOW:ref|NP_036887.1| (53%) |species == Human; gene == FYN; score == 489; expect == 1e-138; MEOW:HUgn0002534 (53%) |species == rat; score == 474; expect == 6e-134; MEOW:ref|NP_110484.1| (52%) |species == Human; gene == HCK; score == 473; expect == 1e-133; MEOW:HUgn0003055 (53%) |species == Human; gene == LYN; score == 469; expect == 2e-132; MEOW:HUgn0004067 (51%) |species == Human; gene == SRC; score == 468; expect == 3e-132; MEOW:HUgn0006714 (51%) |species == rat; score == 467; expect == 8e-132; MEOW:ref|NP_077059.1| (52%) |species == Human; gene == YES1; score == 464; expect == 5e-131; MEOW:HUgn0007525 (51%) |species == rat; score == 464; expect == 5e-131; MEOW:ref|XP_343645.1| (51%) |species == rat; score == 463; expect == 1e-130; MEOW:ref|NP_114183.1| (51%) |species == Human; gene == FGR; score == 462; expect == 2e-130; MEOW:HUgn0002268 (53%) |species == rat; score == 459; expect == 1e-129; MEOW:ref|NP_037317.1| (51%) |species == rat; score == 458; expect == 1e-129; MEOW:ref|XP_346606.1| (93%) |species == rat; score == 453; expect == 1e-127; MEOW:ref|XP_232763.2| (48%) |species == Human; gene == LCK; score == 448; expect == 3e-126; MEOW:HUgn0003932 (50%) |species == rat; score == 446; expect == 1e-125; MEOW:ref|XP_344420.1| (51%) |species == Human; gene == BLK; score == 445; expect == 2e-125; MEOW:HUgn0000640 (50%) |species == Fruitfly; gene == Src64B; score == 422; expect == 2e-118; MEOW:FBgn0003501 (48%) |species == Fruitfly; gene == Abl; score == 369; expect == 1e-101; MEOW:FBgn0000017 (44%) |species == Zfish; gene == itk; score == 296; expect == 1.2e-81; MEOW:ZFgn0000238 (37%) |species == chimp; score == 178; expect == 1.0e-46; MEOW:sp|BAC78172|BAC78172 (35%) |species == Weed; gene == At2g17700; score == 159; expect == 4.5e-39; MEOW:ATgn0028393 (29%) |species == Weed; gene == At4g35780; score == 155; expect == 6.5e-38; MEOW:ATgn0017130 (32%) |species == rice; score == 155; expect == 1.4e-37; MEOW:gnl|TIGR|8357.m03093 (33%) |species == Weed; gene == At5g49470; score == 154; expect == 1.1e-37; MEOW:ATgn0022825 (30%) |species == rice; score == 154; expect == 3.2e-37; MEOW:gnl|TIGR|8355.m02702 (33%) |species == Weed; gene == At4g38470; score == 152; expect == 4.2e-37; MEOW:ATgn0020261 (32%) |species == Weed; gene == At2g24360; score == 151; expect == 9.4e-37; MEOW:ATgn0008622 (32%) |species == rice; score == 149; expect == 7.9e-36; MEOW:gnl|TIGR|8354.m04232 (32%) |species == rice; score == 147; expect == 3.9e-35; MEOW:gnl|TIGR|8351.m00694 (31%) |species == rice; score == 147; expect == 3.9e-35; MEOW:gnl|TIGR|8352.m04835 (34%) |species == Weed; gene == At1g67890; score == 146; expect == 3.0e-35; MEOW:ATgn0006424 (34%) |species == Weed; gene == At4g31170; score == 146; expect == 2.3e-35; MEOW:ATgn0018674 (32%) |species == rice; score == 145; expect == 1.1e-34; MEOW:gnl|TIGR|8352.m04814 (31%) |species == Weed; gene == At3g06620; score == 143; expect == 2.0e-34; MEOW:ATgn0016803 (34%) |species == rice; score == 143; expect == 5.7e-34; MEOW:gnl|TIGR|8356.m01204 (31%) |species == Weed; gene == At1g14000; score == 142; expect == 2.8e-34; MEOW:ATgn0001951 (32%) |species == Weed; gene == At3g06640; score == 142; expect == 3.4e-34; MEOW:ATgn0016813 (33%) |species == rice; score == 141; expect == 2.1e-33; MEOW:gnl|TIGR|8350.m00074 (31%) |species == rice; score == 141; expect == 2.8e-33; MEOW:gnl|TIGR|8351.m04858 (32%) |species == rice; score == 141; expect == 2.1e-33; MEOW:gnl|TIGR|8352.m05524 (30%) |species == rice; score == 137; expect == 2.1e-32; MEOW:gnl|TIGR|8350.m00948 (30%) |species == rice; score == 137; expect == 5.0e-32; MEOW:gnl|TIGR|8355.m04796 (33%) |species == rice; score == 133; expect == 5.0e-31; MEOW:gnl|TIGR|8354.m04086 (34%) |species == Weed; gene == At5g50180; score == 132; expect == 3.7e-31; MEOW:ATgn0023644 (29%) } # EOR GENR { RETE|ID 1 HUgn0002445 CHR 1 11 DID 1 LocusLink:2445 MAP 1 11q23.3 NAM 1 fragile site, aphidicolin type, common, fra(11)(q23.3) ORG 1 Homo sapiens SYM 1 FRA11G ID|HUgn0002445 DID|LocusLink:2445 ORG|Homo sapiens SYM|FRA11G NAM|fragile site, aphidicolin type, common, fra(11)(q23.3) CHR|11 MAP|11q23.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119150 } # EOR GENR { RETE|ID 1 HUgn0002446 CHR 1 11 DID 1 LocusLink:2446 MAP 1 11q13 NAM 1 fragile site, aphidicolin type, common, fra(11)(q13) ORG 1 Homo sapiens SYM 1 FRA11H ID|HUgn0002446 DID|LocusLink:2446 ORG|Homo sapiens SYM|FRA11H NAM|fragile site, aphidicolin type, common, fra(11)(q13) CHR|11 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119924 } # EOR GENR { RETE|ID 1 HUgn0002447 CHR 1 11 DID 1 LocusLink:2447 MAP 1 11p15.1 NAM 1 fragile site, distamycin A type, rare, fra(11)(p15.1) ORG 1 Homo sapiens SYM 1 FRA11I ID|HUgn0002447 DID|LocusLink:2447 ORG|Homo sapiens SYM|FRA11I NAM|fragile site, distamycin A type, rare, fra(11)(p15.1) CHR|11 MAP|11p15.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119925 } # EOR GENR { RETE|ID 1 HUgn0002448 CHR 1 12 DID 1 LocusLink:2448 MAP 1 12q13.1 NAM 1 fragile site, folic acid type, rare, fra(12)(q13.1) ORG 1 Homo sapiens SYM 1 FRA12A ID|HUgn0002448 DID|LocusLink:2448 ORG|Homo sapiens SYM|FRA12A NAM|fragile site, folic acid type, rare, fra(12)(q13.1) CHR|12 MAP|12q13.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119151 } # EOR GENR { RETE|ID 1 HUgn0002449 CHR 1 12 DID 1 LocusLink:2449 MAP 1 12q21.3 NAM 1 fragile site, aphidicolin type, common, fra(12)(q21.3) ORG 1 Homo sapiens SYM 1 FRA12B ID|HUgn0002449 DID|LocusLink:2449 ORG|Homo sapiens SYM|FRA12B NAM|fragile site, aphidicolin type, common, fra(12)(q21.3) CHR|12 MAP|12q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119152 } # EOR GENR { RETE|ID 1 HUgn0002450 CHR 1 12 DID 1 LocusLink:2450 MAP 1 12q24.2 NAM 1 fragile site, BrdU type, rare, fra(12)(q24.2) ORG 1 Homo sapiens SYM 1 FRA12C ID|HUgn0002450 DID|LocusLink:2450 ORG|Homo sapiens SYM|FRA12C NAM|fragile site, BrdU type, rare, fra(12)(q24.2) CHR|12 MAP|12q24.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119153 } # EOR GENR { RETE|ID 1 HUgn0002451 CHR 1 12 DID 1 LocusLink:2451 MAP 1 12q24.13 NAM 1 fragile site, folic acid type, rare, fra(12)(q24.13) ORG 1 Homo sapiens SYM 1 FRA12D ID|HUgn0002451 DID|LocusLink:2451 ORG|Homo sapiens SYM|FRA12D NAM|fragile site, folic acid type, rare, fra(12)(q24.13) CHR|12 MAP|12q24.13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119926 } # EOR GENR { RETE|ID 1 HUgn0002452 CHR 1 12 DID 1 LocusLink:2452 MAP 1 12q24 NAM 1 fragile site, aphidicolin type, common, fra(12)(q24) ORG 1 Homo sapiens SYM 1 FRA12E ID|HUgn0002452 DID|LocusLink:2452 ORG|Homo sapiens SYM|FRA12E NAM|fragile site, aphidicolin type, common, fra(12)(q24) CHR|12 MAP|12q24 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119154 } # EOR GENR { RETE|ID 1 HUgn0002453 CHR 1 13 DID 1 LocusLink:2453 MAP 1 13q13.2 NAM 1 fragile site, aphidicolin type, common, fra(13)(q13.2) ORG 1 Homo sapiens SYM 1 FRA13A ID|HUgn0002453 DID|LocusLink:2453 ORG|Homo sapiens SYM|FRA13A NAM|fragile site, aphidicolin type, common, fra(13)(q13.2) CHR|13 MAP|13q13.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119155 } # EOR GENR { RETE|ID 1 HUgn0002454 CHR 1 13 DID 1 LocusLink:2454 MAP 1 13q21 NAM 1 fragile site, BrdU type, common, fra(13)(q21) ORG 1 Homo sapiens SYM 1 FRA13B ID|HUgn0002454 DID|LocusLink:2454 ORG|Homo sapiens SYM|FRA13B NAM|fragile site, BrdU type, common, fra(13)(q21) CHR|13 MAP|13q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119156 } # EOR GENR { RETE|ID 1 HUgn0002455 CHR 1 13 DID 1 LocusLink:2455 MAP 1 13q21.2 NAM 1 fragile site, aphidicolin type, common, fra(13)(q21.2) ORG 1 Homo sapiens SYM 1 FRA13C ID|HUgn0002455 DID|LocusLink:2455 ORG|Homo sapiens SYM|FRA13C NAM|fragile site, aphidicolin type, common, fra(13)(q21.2) CHR|13 MAP|13q21.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119157 } # EOR GENR { RETE|ID 1 HUgn0002456 CHR 1 13 DID 1 LocusLink:2456 MAP 1 13q32 NAM 1 fragile site, aphidicolin type, common, fra(13)(q32) ORG 1 Homo sapiens SYM 1 FRA13D ID|HUgn0002456 DID|LocusLink:2456 ORG|Homo sapiens SYM|FRA13D NAM|fragile site, aphidicolin type, common, fra(13)(q32) CHR|13 MAP|13q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119927 } # EOR GENR { RETE|ID 1 HUgn0002457 CHR 1 14 DID 1 LocusLink:2457 MAP 1 14q23 NAM 1 fragile site, aphidicolin type, common, fra(14)(q23) ORG 1 Homo sapiens SYM 1 FRA14B ID|HUgn0002457 DID|LocusLink:2457 ORG|Homo sapiens SYM|FRA14B NAM|fragile site, aphidicolin type, common, fra(14)(q23) CHR|14 MAP|14q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119158 } # EOR GENR { RETE|ID 1 HUgn0002458 CHR 1 14 DID 1 LocusLink:2458 MAP 1 14q24.1 NAM 1 fragile site, aphidicolin type, common, fra(14)(q24.1) ORG 1 Homo sapiens SYM 1 FRA14C ID|HUgn0002458 DID|LocusLink:2458 ORG|Homo sapiens SYM|FRA14C NAM|fragile site, aphidicolin type, common, fra(14)(q24.1) CHR|14 MAP|14q24.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119159 } # EOR GENR { RETE|ID 1 HUgn0002459 CHR 1 15 DID 1 LocusLink:2459 MAP 1 15q22 NAM 1 fragile site, aphidicolin type, common, fra(15)(q22) ORG 1 Homo sapiens SYM 1 FRA15A ID|HUgn0002459 DID|LocusLink:2459 ORG|Homo sapiens SYM|FRA15A NAM|fragile site, aphidicolin type, common, fra(15)(q22) CHR|15 MAP|15q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119160 } # EOR GENR { RETE|ID 1 HUgn0002460 CHR 1 16 DID 1 LocusLink:2460 MAP 1 16p13.11 NAM 1 fragile site, folic acid type, rare, fra(16)(p13.11) ORG 1 Homo sapiens SYM 1 FRA16A ID|HUgn0002460 DID|LocusLink:2460 ORG|Homo sapiens DBA|NA:S70397 SYM|FRA16A NAM|fragile site, folic acid type, rare, fra(16)(p13.11) CHR|16 MAP|16p13.11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119928 } # EOR GENR { RETE|ID 1 HUgn0002461 CHR 1 16 DID 1 LocusLink:2461 MAP 1 16q22.1 NAM 1 fragile site, distamycin A type, rare, fra(16)(q22.1) ORG 1 Homo sapiens SYM 1 FRA16B ID|HUgn0002461 DID|LocusLink:2461 ORG|Homo sapiens DBA|NA:U85253 SYM|FRA16B NAM|fragile site, distamycin A type, rare, fra(16)(q22.1) CHR|16 MAP|16q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119161 } # EOR GENR { RETE|ID 1 HUgn0002462 CHR 1 16 DID 1 LocusLink:2462 MAP 1 16q22.1 NAM 1 fragile site, aphidicolin type, common, fra(16)(q22.1) ORG 1 Homo sapiens SYM 1 FRA16C ID|HUgn0002462 DID|LocusLink:2462 ORG|Homo sapiens SYM|FRA16C NAM|fragile site, aphidicolin type, common, fra(16)(q22.1) CHR|16 MAP|16q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119162 } # EOR GENR { RETE|ID 1 HUgn0002463 CHR 1 16 DID 1 LocusLink:2463 MAP 1 16q23.2 NAM 1 fragile site, aphidicolin type, common, fra(16)(q23.2) ORG 1 Homo sapiens SYM 1 FRA16D ID|HUgn0002463 DID|LocusLink:2463 ORG|Homo sapiens SYM|FRA16D NAM|fragile site, aphidicolin type, common, fra(16)(q23.2) CHR|16 MAP|16q23.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119163 } # EOR GENR { RETE|ID 1 HUgn0002464 CHR 1 16 DID 1 LocusLink:2464 MAP 1 16p12.1 NAM 1 fragile site, distamycin A type, rare, fra(16)(p12.1) ORG 1 Homo sapiens SYM 1 FRA16E ID|HUgn0002464 DID|LocusLink:2464 ORG|Homo sapiens SYM|FRA16E NAM|fragile site, distamycin A type, rare, fra(16)(p12.1) CHR|16 MAP|16p12.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119929 } # EOR GENR { RETE|ID 1 HUgn0002465 CHR 1 17 DID 1 LocusLink:2465 MAP 1 17p12 NAM 1 fragile site, distamycin A type, rare, fra(17)(p12) ORG 1 Homo sapiens SYM 1 FRA17A ID|HUgn0002465 DID|LocusLink:2465 ORG|Homo sapiens SYM|FRA17A NAM|fragile site, distamycin A type, rare, fra(17)(p12) CHR|17 MAP|17p12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119164 } # EOR GENR { RETE|ID 1 HUgn0002466 CHR 1 17 DID 1 LocusLink:2466 MAP 1 17q23.1 NAM 1 fragile site, aphidicolin type, common, fra(17)(q23.1) ORG 1 Homo sapiens SYM 1 FRA17B ID|HUgn0002466 DID|LocusLink:2466 ORG|Homo sapiens SYM|FRA17B NAM|fragile site, aphidicolin type, common, fra(17)(q23.1) CHR|17 MAP|17q23.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119930 } # EOR GENR { RETE|ID 1 HUgn0002467 CHR 1 18 DID 1 LocusLink:2467 MAP 1 18q12.2 NAM 1 fragile site, aphidicolin type, common, fra(18)(q12.2) ORG 1 Homo sapiens SYM 1 FRA18A ID|HUgn0002467 DID|LocusLink:2467 ORG|Homo sapiens SYM|FRA18A NAM|fragile site, aphidicolin type, common, fra(18)(q12.2) CHR|18 MAP|18q12.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119165 } # EOR GENR { RETE|ID 1 HUgn0002468 CHR 1 18 DID 1 LocusLink:2468 MAP 1 18q21.3 NAM 1 fragile site, aphidicolin type, common, fra(18)(q21.3) ORG 1 Homo sapiens SYM 1 FRA18B ID|HUgn0002468 DID|LocusLink:2468 ORG|Homo sapiens SYM|FRA18B NAM|fragile site, aphidicolin type, common, fra(18)(q21.3) CHR|18 MAP|18q21.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119166 } # EOR GENR { RETE|ID 1 HUgn0002469 CHR 1 19 DID 1 LocusLink:2469 MAP 1 19q13 NAM 1 fragile site, 5-azacytidine type, common, fra(19)(q13) ORG 1 Homo sapiens SYM 1 FRA19A ID|HUgn0002469 DID|LocusLink:2469 ORG|Homo sapiens SYM|FRA19A NAM|fragile site, 5-azacytidine type, common, fra(19)(q13) CHR|19 MAP|19q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119931 } # EOR GENR { RETE|ID 1 HUgn0002470 CHR 1 19 DID 1 LocusLink:2470 MAP 1 19p13 NAM 1 fragile site, folic acid type, rare, fra(19)(p13) ORG 1 Homo sapiens SYM 1 FRA19B ID|HUgn0002470 DID|LocusLink:2470 ORG|Homo sapiens SYM|FRA19B NAM|fragile site, folic acid type, rare, fra(19)(p13) CHR|19 MAP|19p13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119167 } # EOR GENR { RETE|ID 1 HUgn0002471 CHR 1 20 DID 1 LocusLink:2471 MAP 1 20p11.23 NAM 1 fragile site, folic acid type, rare, fra(20)(p11.23) ORG 1 Homo sapiens SYM 1 FRA20A ID|HUgn0002471 DID|LocusLink:2471 ORG|Homo sapiens SYM|FRA20A NAM|fragile site, folic acid type, rare, fra(20)(p11.23) CHR|20 MAP|20p11.23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119175 } # EOR GENR { RETE|ID 1 HUgn0002472 CHR 1 20 DID 1 LocusLink:2472 MAP 1 20p12.2 NAM 1 fragile site, aphidicolin type, common, fra(20)(p12.2) ORG 1 Homo sapiens SYM 1 FRA20B ID|HUgn0002472 DID|LocusLink:2472 ORG|Homo sapiens SYM|FRA20B NAM|fragile site, aphidicolin type, common, fra(20)(p12.2) CHR|20 MAP|20p12.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119176 } # EOR GENR { RETE|ID 1 HUgn0002473 CHR 1 22 DID 1 LocusLink:2473 MAP 1 22q13 NAM 1 fragile site, folic acid type, rare, fra(22)(q13) ORG 1 Homo sapiens SYM 1 FRA22A ID|HUgn0002473 DID|LocusLink:2473 ORG|Homo sapiens SYM|FRA22A NAM|fragile site, folic acid type, rare, fra(22)(q13) CHR|22 MAP|22q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119177 } # EOR GENR { RETE|ID 1 HUgn0002474 CHR 1 22 DID 1 LocusLink:2474 MAP 1 22q12.2 NAM 1 fragile site, aphidicolin type, common, fra(22)(q12.2) ORG 1 Homo sapiens SYM 1 FRA22B ID|HUgn0002474 DID|LocusLink:2474 ORG|Homo sapiens SYM|FRA22B NAM|fragile site, aphidicolin type, common, fra(22)(q12.2) CHR|22 MAP|22q12.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119178 } # EOR GENR { RETE|ID 1 HUgn0002475 CHR 1 1 DID 1 LocusLink:2475 MAP 1 1p36.2 NAM 1 FK506 binding protein 12-rapamycin associated protein 1 ORG 1 Homo sapiens SYM 1 FRAP1 ID|HUgn0002475 DID|LocusLink:2475 ORG|Homo sapiens RSQ|REFSEQ:NM_004958 RPA|REFPROT:NP_004949 DBA|XM:NM_004958 |NA:AF152840 |NA:L34075 |NA:L35478 |NA:U88966 |NA:none PAC|XP:NP_004949 SYM|FRAP1 NAM|FK506 binding protein 12-rapamycin associated protein 1 SYN|FRAP |MTOR |FRAP2 |RAFT1 |RAPT1 FNC|FK506 binding protein 12-rapamycin associated protein 1 |DNA repair ; GO:0006281 |DNA recombination ; GO:0006310 |regulation of cell cycle ; GO:0000074 REAB|The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related |kinases. These kinases mediate cellular responses to stresses such as DNA damage |and nutrient deprivation. This protein acts as the target for the cell-cycle arrest |and immunosuppressive effects of the FKBP12-rapamycin complex. The CDT6 gene is |located in an intron of this gene. CHR|1 PRD|rapamycin target protein |FKBP-rapamycin associated protein |FKBP12-rapamycin complex-associated protein 1 |FK506 binding protein 12-rapamycin associated protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=338207 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2475[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:597698 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004958 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004958 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28360 DBL|UNIGENE:Hs.338207 |OMIM:601231 |SNP:2475 MAP|1p36.2 ENZ|inositol/phosphatidylinositol kinase activity ; GO:0004428 |transferase activity ; GO:0016740 CEL|phosphoinositide 3-kinase complex ; GO:0005942 HG|species == rat; score == 4676; expect == 0.0; MEOW:ref|NP_063971.1| (98%) |species == Mouse; gene == Frap1; score == 4667; expect == 0.0; MEOW:MGgn0015050 (98%) |species == Mosquito; score == 2566; expect == 0.0; MEOW:AGgn0007283 (54%) |species == Yeast; gene == TOR2; score == 1634; expect == 0.0; MEOW:SGgn0001686 (43%) |species == Yeast; gene == TOR1; score == 1576; expect == 0.0; MEOW:SGgn0003827 (41%) |species == rice; score == 1530; expect == 0.0; MEOW:gnl|TIGR|8353.m01181 (41%) |species == Worm; gene == let-363; score == 1432; expect == 0.0; MEOW:CEgn0001414 (35%) |species == Weed; gene == TOR; score == 857; expect == 0.0; MEOW:ATgn0001729 (37%) |species == Fruitfly; gene == Tor; score == 642; expect == 0.0; MEOW:FBgn0021796 (69%) |species == Human; gene == SMG1; score == 228; expect == 2.7e-59; MEOW:HUgn0023049 (26%) |species == Human; gene == ATR; score == 198; expect == 5.1e-50; MEOW:HUgn0000545 (31%) } # EOR GENR { RETE|ID 1 HUgn0002477 CHR 1 X DID 1 LocusLink:2477 MAP 1 Xq27.3 NAM 1 fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) ORG 1 Homo sapiens SYM 1 FRAXA ID|HUgn0002477 DID|LocusLink:2477 ORG|Homo sapiens SYM|FRAXA NAM|fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) SYN|FMR1 CHR|X MAP|Xq27.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119947 |http://www.geneclinics.org/query?mim=309550 |http://www.ncbi.nlm.nih.gov/disease/FMR1.html } # EOR GENR { RETE|ID 1 HUgn0002478 CHR 1 X DID 1 LocusLink:2478 MAP 1 Xp22.31 NAM 1 fragile site, aphidicolin type, common, fra(X)(p22.31) ORG 1 Homo sapiens SYM 1 FRAXB ID|HUgn0002478 DID|LocusLink:2478 ORG|Homo sapiens SYM|FRAXB NAM|fragile site, aphidicolin type, common, fra(X)(p22.31) CHR|X MAP|Xp22.31 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119948 } # EOR GENR { RETE|ID 1 HUgn0002479 CHR 1 X DID 1 LocusLink:2479 MAP 1 Xq22.1 NAM 1 fragile site, aphidicolin type, common, fra(X)(q22.1) ORG 1 Homo sapiens SYM 1 FRAXC ID|HUgn0002479 DID|LocusLink:2479 ORG|Homo sapiens SYM|FRAXC NAM|fragile site, aphidicolin type, common, fra(X)(q22.1) CHR|X MAP|Xq22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119949 } # EOR GENR { RETE|ID 1 HUgn0002480 CHR 1 X DID 1 LocusLink:2480 MAP 1 Xq27.2 NAM 1 fragile site, aphidicolin type, common, fra(X)(q27.2) ORG 1 Homo sapiens SYM 1 FRAXD ID|HUgn0002480 DID|LocusLink:2480 ORG|Homo sapiens SYM|FRAXD NAM|fragile site, aphidicolin type, common, fra(X)(q27.2) CHR|X MAP|Xq27.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119950 } # EOR GENR { RETE|ID 1 HUgn0002481 CHR 1 X DID 1 LocusLink:2481 MAP 1 Xq28 NAM 1 fragile site, folic acid type, rare, fra(X)(q28) ORG 1 Homo sapiens SYM 1 FRAXE ID|HUgn0002481 DID|LocusLink:2481 ORG|Homo sapiens SYM|FRAXE NAM|fragile site, folic acid type, rare, fra(X)(q28) SYN|FMR2 CHR|X MAP|Xq28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:134038 } # EOR GENR { RETE|ID 1 HUgn0002482 CHR 1 X DID 1 LocusLink:2482 MAP 1 Xq28 NAM 1 fragile site, folic acid type, rare, fra(X)(q28) ORG 1 Homo sapiens SYM 1 FRAXF ID|HUgn0002482 DID|LocusLink:2482 ORG|Homo sapiens DBA|NA:L35600 SYM|FRAXF NAM|fragile site, folic acid type, rare, fra(X)(q28) CHR|X DBL|OMIM:300031 MAP|Xq28 PHP|Mental retardation, X-linked, FRAXF type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:321135 } # EOR GENR { RETE|ID 1 HUgn0002483 CHR 1 4 DID 1 LocusLink:2483 MAP 1 4q35 NAM 1 FSHD region gene 1 ORG 1 Homo sapiens SYM 1 FRG1 ID|HUgn0002483 DID|LocusLink:2483 ORG|Homo sapiens RSQ|REFSEQ:NM_004477 RPA|REFPROT:NP_004468 DBA|XM:NM_004477 |NA:AF146191 |NA:BC053997 |NA:L76159 |NA:none PAC|XP:NP_004468 SYM|FRG1 NAM|FSHD region gene 1 SYN|FSG1 FNC|FSHD region gene 1 |pathogenesis ; GO:0009405 REAB|FSHD region gene 1 maps 100 kb centromeric of the repeat units on chromosome 4q35 |which are deleted in facioscapulohumeral muscular dystrophy. The FRG1 gene is evolutionarily |conserved and has related sequences on multiple human chromosomes. DNA sequence |analysis did not reveal any homology to known genes. CHR|4 PRD|Facioscapulohumeral muscular dystrophy region gene-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=203772 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2483[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3789436 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004477 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004477 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=203772 |http://www.geneclinics.org/query?mim=601278 DBL|UNIGENE:Hs.203772 |OMIM:601278 |SNP:2483 MAP|4q35 HG|species == rat; score == 429; expect == 6e-121; MEOW:ref|XP_222166.2| (95%) |species == rat; score == 410; expect == 5e-115; MEOW:ref|XP_341443.1| (95%) |species == Human; gene == LOC284802; score == 355; expect == 1.3e-98; MEOW:HUgn0284802 (95%) |species == Mosquito; gene == LOC21872; score == 250; expect == 4.8e-67; MEOW:AGgn0021872 (50%) |species == Fruitfly; gene == CG6480; score == 217; expect == 2.6e-57; MEOW:FBgn0036964 (51%) |species == Worm; gene == ZK1010.3; score == 154; expect == 2.4e-38; MEOW:CEgn0021337 (42%) } # EOR GENR { RETE|ID 1 HUgn0002484 CHR 1 11 DID 1 LocusLink:2484 MAP 1 11 NAM 1 full length retroviral sequence 1 (band F6, 14.5kb) ORG 1 Homo sapiens SYM 1 FRV1 ID|HUgn0002484 DID|LocusLink:2484 ORG|Homo sapiens SYM|FRV1 NAM|full length retroviral sequence 1 (band F6, 14.5kb) CHR|11 PRD|Full-length endogenous retroviral sequence-1 DBL|OMIM:136840 MAP|11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119952 } # EOR GENR { RETE|ID 1 HUgn0002485 CHR 1 8 DID 1 LocusLink:2485 MAP 1 8 NAM 1 full length retroviral sequence 2 (band F9, 11.2kb) ORG 1 Homo sapiens SYM 1 FRV2 ID|HUgn0002485 DID|LocusLink:2485 ORG|Homo sapiens SYM|FRV2 NAM|full length retroviral sequence 2 (band F9, 11.2kb) CHR|8 PRD|Full-length endogenous retroviral sequence-2 DBL|OMIM:136870 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119953 } # EOR GENR { RETE|ID 1 HUgn0002486 CHR 1 12 DID 1 LocusLink:2486 MAP 1 12 NAM 1 full length retroviral sequence 3 (band F21, 3.5kb) ORG 1 Homo sapiens SYM 1 FRV3 ID|HUgn0002486 DID|LocusLink:2486 ORG|Homo sapiens SYM|FRV3 NAM|full length retroviral sequence 3 (band F21, 3.5kb) CHR|12 PRD|Full-length endogenous retroviral sequence-3 DBL|OMIM:136890 MAP|12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119954 } # EOR GENR { RETE|ID 1 HUgn0002487 CHR 1 2 DID 1 LocusLink:2487 MAP 1 2qter NAM 1 frizzled-related protein ORG 1 Homo sapiens SYM 1 FRZB ID|HUgn0002487 DID|LocusLink:2487 ORG|Homo sapiens RSQ|REFSEQ:NM_001463 RPA|REFPROT:NP_001454 DBA|XM:NM_001463 |NA:AK130009 |NA:AU117730 |NA:BC027855 |NA:U24163 |NA:U68057 |NA:U91903 |NA:none PAC|XP:NP_001454 SYM|FRZB NAM|frizzled-related protein SYN|FRP-3 |FRZB1 |SFRP3 |FRZB-PEN FNC|frizzled-related protein |skeletal development ; GO:0001501 |development ; GO:0007275 |negative regulation of Wnt receptor signaling pathway ; GO:0030178 CHR|2 PRD|fre |fzrb |hfiz |Fritz |Frzb-1 |frizzled (Drosophila) homolog-related URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=128453 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2487[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5885889 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001463 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001463 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=128453 DBL|UNIGENE:Hs.128453 |OMIM:605083 |SNP:2487 MAP|2qter ENZ|transmembrane receptor activity ; GO:0004888 |Wnt-protein binding ; GO:0017147 CEL|membrane ; GO:0016020 |extracellular ; GO:0005576 HG|species == Mouse; gene == Frzb; score == 593; expect == 4e-170; MEOW:MGgn0010792 (91%) |species == rat; score == 592; expect == 1e-169; MEOW:ref|XP_215757.2| (90%) |species == Zfish; gene == frzb; score == 448; expect == 3e-126; MEOW:ZFgn0000290 (70%) |species == Human; gene == SFRP4; score == 310; expect == 7.5e-85; MEOW:HUgn0006424 (50%) |species == Mosquito; gene == LOC24916; score == 132; expect == 1.9e-31; MEOW:AGgn0024916 (42%) |species == Fruitfly; gene == fz2; score == 132; expect == 2.0e-31; MEOW:FBgn0016797 (44%) } # EOR GENR { RETE|ID 1 HUgn0002488 CHR 1 11 DID 1 LocusLink:2488 MAP 1 11p13 NAM 1 follicle stimulating hormone, beta polypeptide ORG 1 Homo sapiens SYM 1 FSHB ID|HUgn0002488 DID|LocusLink:2488 ORG|Homo sapiens RSQ|REFSEQ:NM_000510 RPA|REFPROT:NP_000501 DBA|XM:NM_000510 |NA:M16646 |NA:M16647 |NA:M24540 |NA:M54914 |NA:none PAC|XP:NP_000501 SYM|FSHB NAM|follicle stimulating hormone, beta polypeptide FNC|follicle stimulating hormone, beta polypeptide |female gamete generation ; GO:0007292 |pregnancy ; GO:0007565 |signal transduction ; GO:0007165 REAB|Follicle-stimulating hormone enables ovarian folliculogenesis to the antral follicle |stage and is essential for Sertoli cell proliferation and maintenance of sperm quality |in the testis. Members of the pituitary glycoprotein hormone family, of which FSH |is one (see also luteinizing hormone, MIM 152780; chorionic gonadotropin, MIM 118860; |and thyroid-stimulating hormone, MIM 188540) consist of a shared alpha chain (MIM |118850) and a beta chain encoded by a separate gene. The FSHB gene encodes the beta |subunit of follicle-stimulating hormone.[supplied by OMIM] CHR|11 PRD|Follicle-stimulating hormone, beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=36975 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2488[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119955 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000510 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000510 |http://www.geneclinics.org/query?mim=136530 DBL|UNIGENE:Hs.36975 |OMIM:136530 |SNP:2488 MAP|11p13 ENZ|hormone activity ; GO:0005179 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Fshb; score == 256; expect == 2.0e-69; MEOW:MGgn0004430 (86%) |species == rat; score == 249; expect == 3.6e-67; MEOW:ref|XP_342486.1| (82%) } # EOR GENR { RETE|ID 1 HUgn0002489 CHR 1 4 DID 1 LocusLink:2489 MAP 1 4q35 NAM 1 facioscapulohumeral muscular dystrophy 1A ORG 1 Homo sapiens SYM 1 FSHMD1A ID|HUgn0002489 DID|LocusLink:2489 ORG|Homo sapiens SYM|FSHMD1A NAM|facioscapulohumeral muscular dystrophy 1A SYN|FMD |FSHD |FSHMD |FSHD1A REAB|Facioscapulohumeral muscular dystrophy is the third most common hereditary disease |of muscle after Duchenne (MIM 310200) and myotonic (MIM 160900) dystrophy. It is |a highly variable disorder with weakness appearing from infancy to late life but |typically in the second decade. In general, the disease initially involves the face |and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical |features are striking asymmetry of muscle involvement from side to side and sparing |of bulbar extraocular and respiratory muscles (Tawil et al., 1998 [PubMed 9506542]).[supplied |by OMIM] CHR|4 DBL|OMIM:158900 MAP|4q35 PHP|Facioscapulohumeral muscular dystrophy-1A URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119914 |http://www.geneclinics.org/query?mim=158900 } # EOR GENR { RETE|ID 1 HUgn0002490 DID 1 LocusLink:2490 NAM 1 facioscapulohumeral muscular dystrophy 1B ORG 1 Homo sapiens SYM 1 FSHMD1B ID|HUgn0002490 DID|LocusLink:2490 ORG|Homo sapiens SYM|FSHMD1B NAM|facioscapulohumeral muscular dystrophy 1B SYN|FSHD1B DBL|OMIM:158901 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:289785 } # EOR GENR { RETE|ID 1 HUgn0002491 CHR 1 X DID 1 LocusLink:2491 MAP 1 Xq22 NAM 1 FSH primary response (LRPR1 homolog, rat) 1 ORG 1 Homo sapiens SYM 1 FSHPRH1 ID|HUgn0002491 DID|LocusLink:2491 ORG|Homo sapiens RSQ|REFSEQ:NM_006733 RPA|REFPROT:NP_006724 DBA|XM:NM_006733 |NA:BC012462 |NA:X97249 |NA:none PAC|XP:NP_006724 SYM|FSHPRH1 NAM|FSH primary response (LRPR1 homolog, rat) 1 SYN|LRPR1 FNC|FSH primary response (LRPR1 homolog, rat) 1 |female gamete generation ; GO:0007292 |sex differentiation ; GO:0007548 |spermatogenesis ; GO:0007283 CHR|X PRD|FSH primary response (LRPR1, rat) homolog 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348920 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2491[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3969665 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006733 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006733 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=348920 DBL|UNIGENE:Hs.348920 |OMIM:300065 |SNP:2491 MAP|Xq22 HG|species == rat; score == 1088; expect == 0.0; MEOW:ref|NP_037087.1| (73%) |species == Mouse; gene == Fshprh1; score == 1067; expect == 0.0; MEOW:MGgn0032159 (73%) } # EOR GENR { RETE|ID 1 HUgn0002492 CHR 1 2 DID 1 LocusLink:2492 MAP 1 2p21-p16 NAM 1 follicle stimulating hormone receptor ORG 1 Homo sapiens SYM 1 FSHR ID|HUgn0002492 DID|LocusLink:2492 ORG|Homo sapiens RSQ|REFSEQ:NM_000145 |REFSEQ:NM_181446 RPA|REFPROT:NP_000136 |REFPROT:NP_852111 DBA|XM:NM_000145 |XM:NM_181446 |NA:S73199 |NA:S73526 |NA:AY429104 |NA:M65085 |NA:M95489 |NA:S59900 |NA:X68044 |NA:none PAC|XP:NP_000136 |XP:NP_852111 SYM|FSHR NAM|follicle stimulating hormone receptor SYN|ODG1 |FSHRO FNC|follicle stimulating hormone receptor isoform 1 precursor |follicle stimulating hormone receptor isoform 2 precursor |female gonad development ; GO:0008585 |female gamete generation ; GO:0007292 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |spermatogenesis ; GO:0007283 REAB|The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. |It is the receptor for follicle stimulating hormone and functions in gonad development. |Alternative splicing occurs at this locus and two transcript variants encoding distinct |isoforms have been identified. CHR|2 PRD|FSH receptor |follitropin receptor |ovarian dysgenesis 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1428 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2492[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127510 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000145 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000145 |http://www.geneclinics.org/query?mim=136435 DBL|UNIGENE:Hs.1428 |OMIM:136435 |SNP:2492 MAP|2p21-p16 PHP|Ovarian hyperstimulation syndrome, gestational |Ovarian sex cord tumors |Premature ovarian failure |Twinning, dizygotic ENZ|follicle stimulating hormone receptor activity ; GO:0004963 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Fshr; score == 1134; expect == 0.0; MEOW:MGgn0004431 (87%) |species == rat; score == 953; expect == 0.0; MEOW:ref|XP_345636.1| (79%) |species == Human; gene == LHCGR; score == 667; expect == 0.0; MEOW:HUgn0003973 (56%) |species == Human; gene == TSHR; score == 607; expect == 8e-174; MEOW:HUgn0007253 (49%) |species == Fruitfly; gene == Fsh; score == 365; expect == 2e-101; MEOW:FBgn0016650 (35%) |species == Mosquito; gene == LOC6676; score == 341; expect == 1.4e-93; MEOW:AGgn0006676 (33%) |species == Mosquito; score == 332; expect == 3.2e-91; MEOW:AGgn0004049 (51%) |species == Fruitfly; gene == rk; score == 308; expect == 1.1e-83; MEOW:FBgn0003255 (32%) |species == Worm; gene == C50H2.1; score == 268; expect == 4.0e-72; MEOW:CEgn0006912 (31%) } # EOR GENR { RETE|ID 1 HUgn0002493 DID 1 LocusLink:2493 NAM 1 fibroblast secretory protein ORG 1 Homo sapiens SYM 1 FSP ID|HUgn0002493 DID|LocusLink:2493 ORG|Homo sapiens SYM|FSP NAM|fibroblast secretory protein URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118796 } # EOR GENR { RETE|ID 1 HUgn0002494 CHR 1 1 DID 1 LocusLink:2494 MAP 1 1q32.1 NAM 1 nuclear receptor subfamily 5, group A, member 2 ORG 1 Homo sapiens SYM 1 NR5A2 ID|HUgn0002494 DID|LocusLink:2494 ORG|Homo sapiens RSQ|REFSEQ:NM_003822 RPA|REFPROT:NP_003813 DBA|XM:NM_003822 |NA:AB019246 |NA:AF049102 |NA:AF124247 |NA:AF146343 |NA:U80251 |NA:U93553 PAC|XP:NP_003813 SYM|NR5A2 NAM|nuclear receptor subfamily 5, group A, member 2 SYN|B1F |CPF |FTF |B1F2 |HB1F |hB1F |LRH-1 |FTZ-F1 |hB1F-2 |FTZ-F1beta FNC|nuclear receptor subfamily 5, group A, member 2 |pathogenesis ; GO:0009405 |embryogenesis and morphogenesis ; GO:0007345 |transcription from Pol II promoter ; GO:0006366 CHR|1 PRD|CYP7A promoter-binding factor |fetoprotein-alpha 1 (AFP) transcription factor |b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183123 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2494[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9837397 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_003822 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_003822 DBL|UNIGENE:Hs.183123 |OMIM:604453 |SNP:2494 MAP|1q32.1 PHP|Member of nuclear receptor superfamily of trancriptional activators; activates the hepatitis B virus (HBV) promoter ENZ|receptor activity ; GO:0004872 |transcription activating factor ; GO:0003710 |RNA polymerase II transcription factor activity, enhancer binding ; GO:0003705 CEL|nucleus ; GO:0005634 HG|species == rat; score == 886; expect == 0.0; MEOW:ref|NP_068510.1| (88%) |species == Mouse; gene == Nr5a2; score == 882; expect == 0.0; MEOW:MGgn0008421 (88%) |species == Human; gene == NR5A1; score == 560; expect == 9e-160; MEOW:HUgn0002516 (61%) |species == Zfish; gene == nr5a4; score == 552; expect == 2e-157; MEOW:ZFgn0002192 (59%) |species == Mosquito; score == 225; expect == 2.8e-59; MEOW:AGgn0007312 (37%) |species == Fruitfly; gene == ftz-f1; score == 196; expect == 1.1e-50; MEOW:FBgn0001078 (80%) |species == Mosquito; score == 191; expect == 1.7e-49; MEOW:AGgn0021652 (80%) |species == Worm; gene == nhr-25; score == 176; expect == 2.4e-44; MEOW:CEgn0002177 (74%) } # EOR GENR { RETE|ID 1 HUgn0002495 CHR 1 11 DID 1 LocusLink:2495 MAP 1 11q13 NAM 1 ferritin, heavy polypeptide 1 ORG 1 Homo sapiens SYM 1 FTH1 ID|HUgn0002495 DID|LocusLink:2495 ORG|Homo sapiens RSQ|REFSEQ:NM_002032 RPA|REFPROT:NP_002023 DBA|XM:NM_002032 |NA:M14212 |NA:X03487 |NA:BC000857 |NA:BC001399 |NA:BC011359 |NA:BC013724 |NA:BC015156 |NA:BC015946 |NA:BC016009 |NA:BC016857 |NA:BC020300 |NA:BC032091 |NA:BC035441 |NA:L20941 |NA:M11146 |NA:M12937 |NA:M15383 |NA:M97164 |NA:X00318 |NA:none PAC|XP:NP_002023 SYM|FTH1 NAM|ferritin, heavy polypeptide 1 SYN|FTH |FTHL6 FNC|ferritin, heavy polypeptide 1 |intracellular iron ion storage ; GO:0006880 |iron ion transport ; GO:0006826 |cell proliferation ; GO:0008283 CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=167344 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=448738 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2495[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120617 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002032 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002032 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=167344 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=448738 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28392 DBL|UNIGENE:Hs.167344 |UNIGENE:Hs.448738 |OMIM:134770 |SNP:2495 MAP|11q13 PHP|Iron overload, autosomal dominant ENZ|binding ; GO:0005488 |ferric iron binding ; GO:0008199 CEL|ferritin complex ; GO:0008043 HG|species == rat; score == 347; expect == 2.0e-96; MEOW:ref|NP_036980.1| (96%) |species == rat; score == 344; expect == 1.3e-95; MEOW:ref|XP_215870.1| (96%) |species == Human; gene == LOC286397; score == 340; expect == 3.5e-94; MEOW:HUgn0286397 (94%) |species == Mouse; gene == Fth; score == 340; expect == 1.4e-94; MEOW:MGgn0004440 (94%) |species == rat; score == 326; expect == 4.1e-90; MEOW:ref|XP_214742.2| (92%) |species == Human; gene == LOC347195; score == 312; expect == 7.8e-86; MEOW:HUgn0347195 (89%) |species == Human; gene == MTF; score == 295; expect == 1.1e-80; MEOW:HUgn0094033 (83%) |species == Mouse; gene == 4930447C24Rik; score == 287; expect == 1.4e-78; MEOW:MGgn0023692 (83%) |species == Zfish; gene == fth1; score == 287; expect == 1.2e-79; MEOW:ZFgn0000928 (78%) |species == rat; score == 285; expect == 1.0e-77; MEOW:ref|XP_225772.2| (81%) |species == Weed; gene == At2g40300; score == 160; expect == 3.8e-40; MEOW:ATgn0010235 (52%) |species == Weed; gene == At5g01600; score == 159; expect == 1.1e-39; MEOW:ATgn0022199 (51%) |species == rice; score == 157; expect == 6.8e-39; MEOW:gnl|TIGR|8359.m00053 (54%) |species == Weed; gene == At3g56090; score == 150; expect == 4.0e-37; MEOW:ATgn0015698 (52%) |species == Weed; gene == At3g11050; score == 147; expect == 2.6e-36; MEOW:ATgn0015125 (48%) |species == Fruitfly; gene == CG4349; score == 144; expect == 2.2e-35; MEOW:FBgn0030449 (45%) } # EOR GENR { RETE|ID 1 HUgn0002496 CHR 1 1 DID 1 LocusLink:2496 MAP 1 1p31-p22 NAM 1 ferritin, heavy polypeptide-like 1 ORG 1 Homo sapiens SYM 1 FTHL1 ID|HUgn0002496 DID|LocusLink:2496 ORG|Homo sapiens SYM|FTHL1 NAM|ferritin, heavy polypeptide-like 1 CHR|1 MAP|1p31-p22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119224 } # EOR GENR { RETE|ID 1 HUgn0002497 CHR 1 1 DID 1 LocusLink:2497 MAP 1 1q32.3-q42 NAM 1 ferritin, heavy polypeptide-like 2 ORG 1 Homo sapiens SYM 1 FTHL2 ID|HUgn0002497 DID|LocusLink:2497 ORG|Homo sapiens SYM|FTHL2 NAM|ferritin, heavy polypeptide-like 2 CHR|1 MAP|1q32.3-q42 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119958 } # EOR GENR { RETE|ID 1 HUgn0002498 CHR 1 2 DID 1 LocusLink:2498 MAP 1 2q32-q33 NAM 1 ferritin, heavy polypeptide-like 3 ORG 1 Homo sapiens SYM 1 FTHL3 ID|HUgn0002498 DID|LocusLink:2498 ORG|Homo sapiens SYM|FTHL3 NAM|ferritin, heavy polypeptide-like 3 CHR|2 MAP|2q32-q33 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119229 } # EOR GENR { RETE|ID 1 HUgn0002499 CHR 1 3 DID 1 LocusLink:2499 MAP 1 3q21-q23 NAM 1 ferritin, heavy polypeptide-like 4 ORG 1 Homo sapiens SYM 1 FTHL4 ID|HUgn0002499 DID|LocusLink:2499 ORG|Homo sapiens SYM|FTHL4 NAM|ferritin, heavy polypeptide-like 4 CHR|3 MAP|3q21-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119230 } # EOR GENR { RETE|ID 1 HUgn0002500 CHR 1 13 DID 1 LocusLink:2500 MAP 1 13q12 NAM 1 ferritin, heavy polypeptide-like 7 ORG 1 Homo sapiens SYM 1 FTHL7 ID|HUgn0002500 DID|LocusLink:2500 ORG|Homo sapiens SYM|FTHL7 NAM|ferritin, heavy polypeptide-like 7 CHR|13 MAP|13q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119232 } # EOR GENR { RETE|ID 1 HUgn0002501 CHR 1 X DID 1 LocusLink:2501 MAP 1 Xq26-q28 NAM 1 ferritin, heavy polypeptide-like 8 ORG 1 Homo sapiens SYM 1 FTHL8 ID|HUgn0002501 DID|LocusLink:2501 ORG|Homo sapiens SYM|FTHL8 NAM|ferritin, heavy polypeptide-like 8 CHR|X MAP|Xq26-q28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119233 } # EOR GENR { RETE|ID 1 HUgn0002502 CHR 1 5 DID 1 LocusLink:2502 MAP 1 5p15.1 NAM 1 ferritin, heavy polypeptide-like 10 ORG 1 Homo sapiens SYM 1 FTHL10 ID|HUgn0002502 DID|LocusLink:2502 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC026785 SYM|FTHL10 NAM|ferritin, heavy polypeptide-like 10 CHR|5 MAP|5p15.1 DBL|SNP:2502 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119225 } # EOR GENR { RETE|ID 1 HUgn0002503 CHR 1 8 DID 1 LocusLink:2503 MAP 1 8 NAM 1 ferritin, heavy polypeptide-like 11 ORG 1 Homo sapiens SYM 1 FTHL11 ID|HUgn0002503 DID|LocusLink:2503 ORG|Homo sapiens SYM|FTHL11 NAM|ferritin, heavy polypeptide-like 11 CHR|8 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119226 } # EOR GENR { RETE|ID 1 HUgn0002504 CHR 1 9 DID 1 LocusLink:2504 MAP 1 9 NAM 1 ferritin, heavy polypeptide-like 12 ORG 1 Homo sapiens SYM 1 FTHL12 ID|HUgn0002504 DID|LocusLink:2504 ORG|Homo sapiens SYM|FTHL12 NAM|ferritin, heavy polypeptide-like 12 CHR|9 MAP|9 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119227 } # EOR GENR { RETE|ID 1 HUgn0002505 CHR 1 14 DID 1 LocusLink:2505 MAP 1 14 NAM 1 ferritin, heavy polypeptide-like 13 ORG 1 Homo sapiens SYM 1 FTHL13 ID|HUgn0002505 DID|LocusLink:2505 ORG|Homo sapiens DBA|NA:U26556 SYM|FTHL13 NAM|ferritin, heavy polypeptide-like 13 SYN|FTHP3 CHR|14 PRD|ferritin, heavy polypeptide pseudogene 3 MAP|14 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:312962 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119228 } # EOR GENR { RETE|ID 1 HUgn0002506 CHR 1 17 DID 1 LocusLink:2506 MAP 1 17pter-p11 NAM 1 ferritin, heavy polypeptide-like 14 ORG 1 Homo sapiens SYM 1 FTHL14 ID|HUgn0002506 DID|LocusLink:2506 CLA|Pseudogene ORG|Homo sapiens SYM|FTHL14 NAM|ferritin, heavy polypeptide-like 14 CHR|17 MAP|17pter-p11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119956 } # EOR GENR { RETE|ID 1 HUgn0002507 CHR 1 6 DID 1 LocusLink:2507 MAP 1 6p12 NAM 1 ferritin, heavy polypeptide-like 15 ORG 1 Homo sapiens SYM 1 FTHL15 ID|HUgn0002507 DID|LocusLink:2507 ORG|Homo sapiens DBA|NA:U09960 SYM|FTHL15 NAM|ferritin, heavy polypeptide-like 15 CHR|6 MAP|6p12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119957 } # EOR GENR { RETE|ID 1 HUgn0002508 CHR 1 11 DID 1 LocusLink:2508 MAP 1 11q13 NAM 1 ferritin, heavy polypeptide-like 16 ORG 1 Homo sapiens SYM 1 FTHL16 ID|HUgn0002508 DID|LocusLink:2508 ORG|Homo sapiens DBA|NA:X03486 SYM|FTHL16 NAM|ferritin, heavy polypeptide-like 16 SYN|FTH2 CHR|11 MAP|11q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128584 } # EOR GENR { RETE|ID 1 HUgn0002509 CHR 1 6 DID 1 LocusLink:2509 MAP 1 6p21.3-p12 NAM 1 ferritin, heavy polypeptide pseudogene 1 ORG 1 Homo sapiens SYM 1 FTHP1 ID|HUgn0002509 DID|LocusLink:2509 CLA|Pseudogene ORG|Homo sapiens DBA|NA:J04755 SYM|FTHP1 NAM|ferritin, heavy polypeptide pseudogene 1 SYN|FTHL5 CHR|6 MAP|6p21.3-p12 DBL|SNP:2509 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119231 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=J04755 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=J04755 } # EOR GENR { RETE|ID 1 HUgn0002510 CHR 1 4 DID 1 LocusLink:2510 MAP 1 4q32.1 NAM 1 ferritin, heavy polypeptide pseudogene 2 ORG 1 Homo sapiens SYM 1 FTHP2 ID|HUgn0002510 DID|LocusLink:2510 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC109352 |NA:U09962 SYM|FTHP2 NAM|ferritin, heavy polypeptide pseudogene 2 CHR|4 MAP|4q32.1 DBL|SNP:2510 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:230130 } # EOR GENR { RETE|ID 1 HUgn0002512 CHR 1 19 DID 1 LocusLink:2512 MAP 1 19q13.3-q13.4 NAM 1 ferritin, light polypeptide ORG 1 Homo sapiens SYM 1 FTL ID|HUgn0002512 DID|LocusLink:2512 ORG|Homo sapiens RSQ|REFSEQ:NM_000146 RPA|REFPROT:NP_000137 DBA|XM:NM_000146 |NA:AF119897 |NA:AF147331 |NA:AY207005 |NA:BC002991 |NA:BC004245 |NA:BC008439 |NA:BC008441 |NA:BC013928 |NA:BC016346 |NA:BC016354 |NA:BC016715 |NA:BC018990 |NA:BC021670 |NA:BC058820 |NA:M10119 |NA:M11147 |NA:M12938 PAC|XP:NP_000137 SYM|FTL NAM|ferritin, light polypeptide SYN|PRO2760 FNC|ferritin, light polypeptide |iron ion homeostasis ; GO:0006879 CHR|19 PRD|ferritin light polypeptide-like 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433670 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=523919 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2512[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119234 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000146 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000146 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433670 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=523919 |http://www.geneclinics.org/query?mim=134790 DBL|UNIGENE:Hs.433670 |UNIGENE:Hs.523919 |OMIM:134790 |SNP:2512 |UWCM:119234.html MAP|19q13.3-q13.4 PHP|Basal ganglia disease, adult-onset |Hyperferritinemia-cataract syndrome |Ferritin light polypeptide; iron storage protein ENZ|iron ion binding ; GO:0005506 CEL|ferritin complex ; GO:0008043 HG|species == Mouse; gene == Ftl2; score == 297; expect == 2.4e-81; MEOW:MGgn0004458 (79%) |species == Mouse; gene == Ftl1; score == 295; expect == 1.2e-80; MEOW:MGgn0004446 (78%) |species == rat; score == 276; expect == 5.4e-75; MEOW:ref|NP_071945.2| (80%) |species == rat; score == 269; expect == 5.0e-73; MEOW:ref|XP_345801.1| (78%) |species == rat; score == 267; expect == 1.9e-72; MEOW:ref|XP_217585.2| (78%) |species == rat; score == 248; expect == 1.2e-66; MEOW:ref|XP_213322.2| (73%) |species == Zfish; gene == fth1; score == 216; expect == 5.1e-57; MEOW:ZFgn0000928 (56%) |species == Human; gene == FTH1; score == 209; expect == 5.5e-55; MEOW:HUgn0002495 (56%) |species == Human; gene == LOC286397; score == 202; expect == 1.3e-52; MEOW:HUgn0286397 (55%) |species == Human; gene == MTF; score == 200; expect == 5.0e-52; MEOW:HUgn0094033 (54%) |species == Human; gene == LOC347195; score == 171; expect == 2.4e-43; MEOW:HUgn0347195 (52%) } # EOR GENR { RETE|ID 1 HUgn0002514 CHR 1 X DID 1 LocusLink:2514 MAP 1 Xp22.3-p21.2 NAM 1 ferritin, light polypeptide-like 2 ORG 1 Homo sapiens SYM 1 FTLL2 ID|HUgn0002514 DID|LocusLink:2514 ORG|Homo sapiens SYM|FTLL2 NAM|ferritin, light polypeptide-like 2 CHR|X MAP|Xp22.3-p21.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119236 } # EOR GENR { RETE|ID 1 HUgn0002515 CHR 1 8 DID 1 LocusLink:2515 MAP 1 8p11.2 NAM 1 a disintegrin and metalloproteinase domain 2 (fertilin beta) ORG 1 Homo sapiens SYM 1 ADAM2 ID|HUgn0002515 DID|LocusLink:2515 ORG|Homo sapiens RSQ|REFSEQ:NM_001464 RPA|REFPROT:NP_001455 DBA|XM:NM_001464 |NA:AJ133005 |NA:BC034957 |NA:U38805 |NA:U52370 |NA:X99374 |NA:none PAC|XP:NP_001455 SYM|ADAM2 NAM|a disintegrin and metalloproteinase domain 2 (fertilin beta) SYN|FTNB |PH30 |PH-30b FNC|a disintegrin and metalloproteinase domain 2 proprotein |fusion of sperm to egg plasma membrane ; GO:0007342 |proteolysis and peptidolysis ; GO:0006508 |cell adhesion ; GO:0007155 REAB|This gene encodes a disintegrin and metalloprotease (ADAM) domain 2, which is a member |of the ADAM protein family. Members of this family are membrane-anchored proteins |structurally related to snake venom disintegrins, and have been implicated in a |variety of biologic processes involving cell-cell and cell-matrix interactions, |including fertilization, muscle development, and neurogenesis. This member is a |subunit of an integral sperm membrane glycoprotein (called fertilin), which plays |an important role in sperm-egg interactions. The expression of this gene may be |specific to the testis. CHR|8 PRD|fertilin beta |fertilin beta (a disintegrin and metalloproteinase domain 2) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177959 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2515[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4562627 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001464 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001464 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177959 DBL|UNIGENE:Hs.177959 |OMIM:601533 |SNP:2515 MAP|8p11.2 ENZ|integrin binding ; GO:0005178 |metalloendopeptidase activity ; GO:0004222 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adam2; score == 918; expect == 0.0; MEOW:MGgn0000127 (60%) |species == rat; score == 910; expect == 0.0; MEOW:ref|NP_064462.1| (59%) |species == Human; gene == ADAM18; score == 595; expect == 3e-170; MEOW:HUgn0008749 (42%) |species == Human; gene == ADAM32; score == 572; expect == 2e-163; MEOW:HUgn0203102 (43%) |species == Mosquito; gene == LOC22724; score == 285; expect == 2.8e-77; MEOW:AGgn0022724 (30%) |species == Mosquito; gene == LOC5363; score == 255; expect == 4.0e-68; MEOW:AGgn0005363 (29%) |species == Fruitfly; gene == mmd; score == 238; expect == 4.1e-63; MEOW:FBgn0041109 (28%) |species == Worm; gene == unc-71; score == 164; expect == 1.5e-40; MEOW:CEgn0002955 (24%) } # EOR GENR { RETE|ID 1 HUgn0002516 CHR 1 9 DID 1 LocusLink:2516 MAP 1 9q33 NAM 1 nuclear receptor subfamily 5, group A, member 1 ORG 1 Homo sapiens SYM 1 NR5A1 ID|HUgn0002516 DID|LocusLink:2516 ORG|Homo sapiens RSQ|REFSEQ:NM_004959 RPA|REFPROT:NP_004950 DBA|XM:NM_004959 |NA:D84206 |NA:D84207 |NA:D84208 |NA:D84209 |NA:D84210 |NA:D88155 |NA:BC032501 |NA:U76388 |NA:none PAC|XP:NP_004950 SYM|NR5A1 NAM|nuclear receptor subfamily 5, group A, member 1 SYN|ELP |SF1 |FTZ1 |SF-1 |AD4BP |FTZF1 FNC|nuclear receptor subfamily 5, group A, member 1 |primary sex determination ; GO:0007538 |male gonad development ; GO:0008584 |signal transduction ; GO:0007165 |regulation of transcription from Pol II promoter ; GO:0006357 |cell-cell signaling ; GO:0007267 CHR|9 PRD|fushi tarazu factor (Drosophila) homolog 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=157037 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2516[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:347948 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004959 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004959 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=157037 |http://www.geneclinics.org/query?mim=184757 DBL|UNIGENE:Hs.157037 |OMIM:184757 |SNP:2516 MAP|9q33 PHP|Adrenocortical insufficiency without ovarian defect |Sex reversal, XY, with adrenal failure ENZ|steroid hormone receptor activity ; GO:0003707 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 746; expect == 0.0; MEOW:ref|NP_445796.1| (91%) |species == Mouse; gene == Nr5a1; score == 743; expect == 0.0; MEOW:MGgn0008420 (91%) |species == Human; gene == NR5A2; score == 560; expect == 9e-160; MEOW:HUgn0002494 (61%) |species == Zfish; gene == nr5a4; score == 481; expect == 3e-136; MEOW:ZFgn0002192 (55%) |species == Fruitfly; gene == ftz-f1; score == 195; expect == 1.0e-49; MEOW:FBgn0001078 (70%) |species == Mosquito; score == 184; expect == 2.1e-47; MEOW:AGgn0021652 (86%) |species == Worm; gene == nhr-25; score == 174; expect == 1.6e-43; MEOW:CEgn0002177 (74%) |species == Mosquito; score == 149; expect == 3.2e-36; MEOW:AGgn0007312 (39%) } # EOR GENR { RETE|ID 1 HUgn0002517 CHR 1 1 DID 1 LocusLink:2517 MAP 1 1p34 NAM 1 fucosidase, alpha-L- 1, tissue ORG 1 Homo sapiens SYM 1 FUCA1 ID|HUgn0002517 DID|LocusLink:2517 ORG|Homo sapiens RSQ|REFSEQ:NM_000147 RPA|REFPROT:NP_000138 DBA|XM:NM_000147 |NA:M80815 |NA:AK092914 |NA:AK095443 |NA:AK095455 |NA:BC017338 |NA:M10355 |NA:M29877 |NA:none PAC|XP:NP_000138 SYM|FUCA1 NAM|fucosidase, alpha-L- 1, tissue FNC|fucosidase, alpha-L- 1, tissue REAB|Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective |alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes |include clinical features such as neurologic deterioration, growth retardation, |visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma |corporis diffusum, spasticity and delayed psychomotor development in a longer surviving |form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied |by OMIM] CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=576 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2517[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119237 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000147 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000147 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=576 |http://www.geneclinics.org/query?mim=230000 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00511 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28422 DBL|UNIGENE:Hs.576 |OMIM:230000 |SNP:2517 ENZ|EC:3.2.1.51 MAP|1p34 PHP|Fucosidosis HG|species == Mouse; gene == Fuca; score == 834; expect == 0.0; MEOW:MGgn0004463 (84%) |species == rat; score == 805; expect == 0.0; MEOW:ref|NP_036694.1| (82%) |species == Human; gene == FUCA2; score == 545; expect == 2e-155; MEOW:HUgn0002519 (55%) |species == Mosquito; score == 466; expect == 1e-131; MEOW:AGgn0025515 (50%) |species == Fruitfly; gene == CG6128; score == 462; expect == 2e-130; MEOW:FBgn0036169 (46%) |species == Mosquito; gene == LOC15968; score == 459; expect == 1e-129; MEOW:AGgn0015968 (46%) |species == Worm; gene == W03G11.3; score == 369; expect == 2e-102; MEOW:CEgn0017514 (45%) } # EOR GENR { RETE|ID 1 HUgn0002518 CHR 1 2 DID 1 LocusLink:2518 MAP 1 2q31-q32 NAM 1 fucosidase, alpha-L- 1, tissue pseudogene ORG 1 Homo sapiens SYM 1 FUCA1P ID|HUgn0002518 DID|LocusLink:2518 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M80816 SYM|FUCA1P NAM|fucosidase, alpha-L- 1, tissue pseudogene CHR|2 MAP|2q31-q32 DBL|SNP:2518 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119238 } # EOR GENR { RETE|ID 1 HUgn0002519 CHR 1 6 DID 1 LocusLink:2519 MAP 1 6q24 NAM 1 fucosidase, alpha-L- 2, plasma ORG 1 Homo sapiens SYM 1 FUCA2 ID|HUgn0002519 DID|LocusLink:2519 ORG|Homo sapiens RSQ|REFSEQ:NM_032020 RPA|REFPROT:NP_114409 DBA|XM:NM_032020 |NA:AK075458 |NA:AY358551 |NA:BC003060 |NA:BC051268 PAC|XP:NP_114409 SYM|FUCA2 NAM|fucosidase, alpha-L- 2, plasma SYN|MGC1314 |dJ20N2.5 FNC|fucosidase, alpha-L- 2, plasma CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=17680 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2519[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119239 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032020 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032020 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=17680 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00511 DBL|UNIGENE:Hs.17680 |OMIM:136820 |SNP:2519 MAP|6q24 HG|species == rat; score == 827; expect == 0.0; MEOW:ref|XP_214788.2| (84%) |species == Mouse; gene == 0610025O11Rik; score == 812; expect == 0.0; MEOW:MGgn0015373 (83%) |species == Human; gene == FUCA1; score == 545; expect == 2e-155; MEOW:HUgn0002517 (55%) |species == Mosquito; score == 505; expect == 3e-143; MEOW:AGgn0025515 (53%) |species == Mosquito; gene == LOC15968; score == 494; expect == 2e-140; MEOW:AGgn0015968 (49%) |species == Fruitfly; gene == CG6128; score == 483; expect == 1e-136; MEOW:FBgn0036169 (56%) |species == Worm; gene == W03G11.3; score == 375; expect == 2e-104; MEOW:CEgn0017514 (48%) } # EOR GENR { RETE|ID 1 HUgn0002520 CHR 1 17 DID 1 LocusLink:2520 MAP 1 17q21 NAM 1 gastrin ORG 1 Homo sapiens SYM 1 GAS ID|HUgn0002520 DID|LocusLink:2520 ORG|Homo sapiens RSQ|REFSEQ:NM_000805 RPA|REFPROT:NP_000796 DBA|XM:NM_000805 |NA:K01254 |NA:M15958 |NA:X00183 |NA:V00511 |NA:none PAC|XP:NP_000796 SYM|GAS NAM|gastrin SYN|GAST FNC|gastrin precursor |smooth muscle contraction ; GO:0006939 |signal transduction ; GO:0007165 REAB|Gastrin is hormone whose main function is to stimulate secretion of HCL by the gastric |mucosa which results in gastrin formation inhibition. GAS also acts as a mitogeneic |factor for gastrointestinal epithelial cells. Gastrin has two biologically active |peptide forms, G34 and G17. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2681 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2520[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119261 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000805 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000805 DBL|UNIGENE:Hs.2681 |OMIM:137250 |SNP:2520 MAP|17q21 ENZ|hormone activity ; GO:0005179 |peptide hormone ; GO:0005180 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Mouse; gene == Gast; score == 142; expect == 2.8e-35; MEOW:MGgn0004585 (69%) } # EOR GENR { RETE|ID 1 HUgn0002521 CHR 1 16 DID 1 LocusLink:2521 MAP 1 16p11.2 NAM 1 fusion (involved in t(12;16) in malignant liposarcoma) ORG 1 Homo sapiens SYM 1 FUS ID|HUgn0002521 DID|LocusLink:2521 ORG|Homo sapiens RSQ|REFSEQ:NM_004960 RPA|REFPROT:NP_004951 DBA|XM:NM_004960 |NA:AF071213 |NA:AK098774 |NA:AK130774 |NA:BC000402 |NA:BC002459 |NA:BC026062 |NA:BC051293 |NA:BT007131 |NA:S62140 |NA:X71428 |NA:none PAC|XP:NP_004951 SYM|FUS NAM|fusion (involved in t(12;16) in malignant liposarcoma) SYN|TLS FNC|fusion (involved in t(12;16) in malignant liposarcoma) |cell growth and/or maintenance ; GO:0008151 CHR|16 PRD|Fusion gene in myxoid liposarcoma |fusion, derived from t(12;16) malignant liposarcoma URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=107720 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2521[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136048 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004960 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004960 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=107720 DBL|UNIGENE:Hs.107720 |OMIM:137070 |SNP:2521 MAP|16p11.2 ENZ|RNA binding ; GO:0003723 |DNA binding ; GO:0003677 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fus; score == 265; expect == 2.4e-71; MEOW:MGgn0013653 (100%) |species == rat; score == 238; expect == 4.7e-63; MEOW:ref|XP_346276.1| (94%) |species == rat; score == 231; expect == 1.0e-60; MEOW:ref|XP_228776.2| (92%) |species == Human; gene == TAF15; score == 177; expect == 9.9e-45; MEOW:HUgn0008148 (79%) |species == Human; gene == EWSR1; score == 143; expect == 2.7e-34; MEOW:HUgn0002130 (56%) } # EOR GENR { RETE|ID 1 HUgn0002522 CHR 1 10 DID 1 LocusLink:2522 MAP 1 10 NAM 1 polykaryocytosis promoter ORG 1 Homo sapiens SYM 1 FUSE ID|HUgn0002522 DID|LocusLink:2522 ORG|Homo sapiens SYM|FUSE NAM|polykaryocytosis promoter CHR|10 PRD|Polykaryocytosis inducer DBL|OMIM:174750 MAP|10 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119241 } # EOR GENR { RETE|ID 1 HUgn0002523 CHR 1 19 DID 1 LocusLink:2523 MAP 1 19q13.3 NAM 1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included) ORG 1 Homo sapiens SYM 1 FUT1 ID|HUgn0002523 DID|LocusLink:2523 ORG|Homo sapiens RSQ|REFSEQ:NM_000148 RPA|REFPROT:NP_000139 DBA|XM:NM_000148 |NA:AB004859 |NA:AB004860 |NA:AB004861 |NA:AB004862 |NA:AB004863 |NA:Z69587 |NA:M35531 |NA:none PAC|XP:NP_000139 SYM|FUT1 NAM|fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included) SYN|H |HH FNC|fucosyltransferase 1 |carbohydrate metabolism ; GO:0005975 CHR|19 PRD|fucosyltransferase-1 |alpha (1,2) fucosyltransferase, Bombay phenotype included |galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=69747 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2523[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120618 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000148 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000148 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.bioc.aecom.yu.edu/bgmut/hh.htm DBL|UNIGENE:Hs.69747 |OMIM:211100 |SNP:2523 |UWCM:120618.html ENZ|EC:2.4.1.69 |galactoside 2-alpha-L-fucosyltransferase activity ; GO:0008107 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|19q13.3 PHP|Bombay phenotype CEL|Golgi apparatus ; GO:0005794 |integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == chimp; score == 751; expect == 0.0; MEOW:sp|Q9TUD6|Q9TUD6 (98%) |species == Mouse; gene == Fut1; score == 572; expect == 1e-163; MEOW:MGgn0004464 (77%) |species == rat; score == 572; expect == 1e-163; MEOW:ref|NP_112515.1| (76%) |species == Human; gene == FUT2; score == 411; expect == 2e-115; MEOW:HUgn0002524 (68%) } # EOR GENR { RETE|ID 1 HUgn0002524 CHR 1 19 DID 1 LocusLink:2524 MAP 1 19q13.3 NAM 1 fucosyltransferase 2 (secretor status included) ORG 1 Homo sapiens SYM 1 FUT2 ID|HUgn0002524 DID|LocusLink:2524 ORG|Homo sapiens RSQ|REFSEQ:NM_000511 RPA|REFPROT:NP_000502 DBA|XM:NM_000511 |NA:D82933 |NA:none PAC|XP:NP_000502 SYM|FUT2 NAM|fucosyltransferase 2 (secretor status included) SYN|SE FNC|fucosyltransferase 2 (secretor status included) |protein amino acid glycosylation ; GO:0006486 |carbohydrate metabolism ; GO:0005975 CHR|19 PRD|Fucosyltransferase-2 (secretor) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=448346 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2524[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120619 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000511 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000511 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.bioc.aecom.yu.edu/bgmut/hh.htm DBL|UNIGENE:Hs.448346 |OMIM:182100 |SNP:2524 |UWCM:120619.html ENZ|EC:2.4.1.69 |galactoside 2-alpha-L-fucosyltransferase activity ; GO:0008107 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|19q13.3 CEL|Golgi apparatus ; GO:0005794 |integral to Golgi membrane ; GO:0030173 HG|species == chimp; score == 604; expect == 2e-173; MEOW:sp|O77485|O77485 (86%) |species == chimp; score == 604; expect == 2e-173; MEOW:sp|Q9TUD5|Q9TUD5 (86%) |species == rat; score == 569; expect == 1e-162; MEOW:ref|XP_218652.1| (78%) |species == Mouse; gene == Sec1; score == 557; expect == 2e-159; MEOW:MGgn0028163 (78%) |species == Mouse; gene == Fut2; score == 533; expect == 5e-152; MEOW:MGgn0004465 (76%) |species == rat; score == 528; expect == 2e-150; MEOW:ref|NP_113823.1| (74%) |species == Human; gene == FUT1; score == 411; expect == 2e-115; MEOW:HUgn0002523 (68%) } # EOR GENR { RETE|ID 1 HUgn0002525 CHR 1 19 DID 1 LocusLink:2525 MAP 1 19p13.3 NAM 1 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) ORG 1 Homo sapiens SYM 1 FUT3 ID|HUgn0002525 DID|LocusLink:2525 ORG|Homo sapiens RSQ|REFSEQ:NM_000149 RPA|REFPROT:NP_000140 DBA|XM:NM_000149 |NA:D89324 |NA:D89325 |NA:AF131913 |NA:U27326 |NA:U27327 |NA:U27328 |NA:X53578 |NA:none PAC|XP:NP_000140 SYM|FUT3 NAM|fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) SYN|LE |Les FNC|fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) |protein amino acid glycosylation ; GO:0006486 |carbohydrate metabolism ; GO:0005975 CHR|19 PRD|Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169238 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135717 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000149 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000149 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.bioc.aecom.yu.edu/bgmut/Lewis.htm DBL|UNIGENE:Hs.169238 |OMIM:111100 |SNP:2525 |UWCM:135717.html ENZ|EC:2.4.1.65 |transferase activity, transferring glycosyl groups ; GO:0016757 |3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity ; GO:0017060 MAP|19p13.3 PHP|Blood group, Lewis CEL|Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Human; gene == FUT5; score == 696; expect == 0.0; MEOW:HUgn0002527 (88%) |species == chimp; score == 690; expect == 0.0; MEOW:sp|P56433|FUT5_PANTR (87%) |species == chimp; score == 676; expect == 0.0; MEOW:sp|O19058|FUT3_PANTR (95%) |species == chimp; score == 649; expect == 0.0; MEOW:sp|P56434|FUT6_PANTR (85%) |species == Human; gene == FUT6; score == 641; expect == 0.0; MEOW:HUgn0002528 (84%) |species == rat; score == 258; expect == 2.8e-69; MEOW:ref|XP_231061.2| (48%) |species == Mouse; gene == Fut9; score == 256; expect == 1.0e-68; MEOW:MGgn0004469 (44%) |species == rat; score == 256; expect == 1.0e-68; MEOW:ref|NP_445917.1| (44%) |species == Mouse; gene == Fut7; score == 251; expect == 2.2e-67; MEOW:MGgn0004468 (46%) |species == Mouse; gene == Fut4; score == 244; expect == 6.8e-65; MEOW:MGgn0004466 (41%) |species == rat; score == 236; expect == 1.5e-62; MEOW:ref|NP_071555.1| (42%) |species == Zfish; gene == ft1; score == 225; expect == 2.9e-59; MEOW:ZFgn0000294 (40%) |species == Zfish; gene == ft2; score == 213; expect == 1.1e-55; MEOW:ZFgn0000295 (38%) |species == Mosquito; score == 151; expect == 2.6e-37; MEOW:AGgn0014791 (38%) |species == Fruitfly; gene == FucTA; score == 140; expect == 1.7e-33; MEOW:FBgn0036485 (35%) |species == Fruitfly; gene == FucTC; score == 131; expect == 3.0e-31; MEOW:FBgn0044872 (33%) } # EOR GENR { RETE|ID 1 HUgn0002526 CHR 1 11 DID 1 LocusLink:2526 MAP 1 11q21 NAM 1 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) ORG 1 Homo sapiens SYM 1 FUT4 ID|HUgn0002526 DID|LocusLink:2526 ORG|Homo sapiens RSQ|REFSEQ:NM_002033 RPA|REFPROT:NP_002024 DBA|XM:NM_002033 |NA:M65030 |NA:S65161 |NA:BC041922 |NA:M58596 |NA:M58597 |NA:none PAC|XP:NP_002024 SYM|FUT4 NAM|fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) SYN|FCT3A |FUC-TIV FNC|fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) |protein amino acid glycosylation ; GO:0006486 |carbohydrate metabolism ; GO:0005975 REAB|FUT4 catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). It has |been detected in human embryos (5-10 weeks) suggesting a role in development. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390420 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2526[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131563 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002033 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002033 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=390420 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00512 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00604 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00533 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00563 DBL|UNIGENE:Hs.390420 |OMIM:104230 |SNP:2526 ENZ|EC:2.4.1.- |fucosyltransferase activity ; GO:0008417 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|11q21 CEL|Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 670; expect == 0.0; MEOW:ref|NP_071555.1| (76%) |species == Mouse; gene == Fut4; score == 668; expect == 0.0; MEOW:MGgn0004466 (73%) |species == Human; gene == FUT5; score == 260; expect == 9.9e-70; MEOW:HUgn0002527 (43%) |species == Human; gene == FUT7; score == 260; expect == 1.2e-69; MEOW:HUgn0002529 (40%) |species == chimp; score == 259; expect == 1.7e-69; MEOW:sp|P56433|FUT5_PANTR (43%) |species == Human; gene == FUT3; score == 258; expect == 4.7e-69; MEOW:HUgn0002525 (45%) |species == Human; gene == FUT6; score == 258; expect == 2.7e-69; MEOW:HUgn0002528 (42%) |species == chimp; score == 257; expect == 8.3e-69; MEOW:sp|O19058|FUT3_PANTR (46%) |species == chimp; score == 257; expect == 7.9e-69; MEOW:sp|P56434|FUT6_PANTR (42%) |species == Human; gene == FUT9; score == 255; expect == 2.3e-68; MEOW:HUgn0010690 (41%) |species == Zfish; gene == ft1; score == 221; expect == 5.4e-58; MEOW:ZFgn0000294 (40%) |species == Zfish; gene == ft2; score == 218; expect == 6.0e-57; MEOW:ZFgn0000295 (36%) |species == Mosquito; score == 153; expect == 1.3e-37; MEOW:AGgn0014791 (37%) } # EOR GENR { RETE|ID 1 HUgn0002527 CHR 1 19 DID 1 LocusLink:2527 MAP 1 19p13.3 NAM 1 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) ORG 1 Homo sapiens SYM 1 FUT5 ID|HUgn0002527 DID|LocusLink:2527 ORG|Homo sapiens RSQ|REFSEQ:NM_002034 RPA|REFPROT:NP_002025 DBA|XM:NM_002034 |NA:M81485 |NA:U27329 |NA:U27330 |NA:none PAC|XP:NP_002025 SYM|FUT5 NAM|fucosyltransferase 5 (alpha (1,3) fucosyltransferase) SYN|FUC-TV FNC|fucosyltransferase 5 (alpha (1,3) fucosyltransferase) |protein amino acid glycosylation ; GO:0006486 |carbohydrate metabolism ; GO:0005975 CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=158327 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2527[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002034 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002034 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 DBL|UNIGENE:Hs.158327 |OMIM:136835 |SNP:2527 ENZ|EC:2.4.1.65 |transferase activity, transferring glycosyl groups ; GO:0016757 |3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity ; GO:0017060 MAP|19p13.3 CEL|Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 HG|species == chimp; score == 788; expect == 0.0; MEOW:sp|P56433|FUT5_PANTR (98%) |species == chimp; score == 728; expect == 0.0; MEOW:sp|O19058|FUT3_PANTR (91%) |species == Human; gene == FUT3; score == 696; expect == 0.0; MEOW:HUgn0002525 (88%) |species == chimp; score == 676; expect == 0.0; MEOW:sp|P56434|FUT6_PANTR (86%) |species == Human; gene == FUT6; score == 669; expect == 0.0; MEOW:HUgn0002528 (85%) |species == Mouse; gene == Fut7; score == 277; expect == 5.1e-75; MEOW:MGgn0004468 (48%) |species == rat; score == 276; expect == 1.3e-74; MEOW:ref|XP_231061.2| (47%) |species == Mouse; gene == Fut9; score == 257; expect == 5.5e-69; MEOW:MGgn0004469 (44%) |species == rat; score == 257; expect == 7.9e-69; MEOW:ref|NP_445917.1| (44%) |species == Mouse; gene == Fut4; score == 249; expect == 1.1e-66; MEOW:MGgn0004466 (42%) |species == rat; score == 240; expect == 8.2e-64; MEOW:ref|NP_071555.1| (39%) |species == Zfish; gene == ft1; score == 228; expect == 1.7e-61; MEOW:ZFgn0000294 (41%) |species == Zfish; gene == ft2; score == 214; expect == 2.5e-57; MEOW:ZFgn0000295 (39%) |species == Mosquito; score == 146; expect == 1.2e-35; MEOW:AGgn0014791 (36%) |species == Fruitfly; gene == FucTA; score == 139; expect == 2.0e-33; MEOW:FBgn0036485 (35%) |species == Fruitfly; gene == FucTC; score == 135; expect == 2.8e-32; MEOW:FBgn0044872 (32%) } # EOR GENR { RETE|ID 1 HUgn0002528 CHR 1 19 DID 1 LocusLink:2528 MAP 1 19p13.3 NAM 1 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) ORG 1 Homo sapiens SYM 1 FUT6 ID|HUgn0002528 DID|LocusLink:2528 ORG|Homo sapiens RSQ|REFSEQ:NM_000150 RPA|REFPROT:NP_000141 DBA|XM:NM_000150 |NA:L01698 |NA:M98825 |NA:U27331 |NA:U27332 |NA:U27333 |NA:U27334 |NA:U27335 |NA:U27336 |NA:U27337 |NA:none PAC|XP:NP_000141 SYM|FUT6 NAM|fucosyltransferase 6 (alpha (1,3) fucosyltransferase) FNC|fucosyltransferase 6 (alpha (1,3) fucosyltransferase) |protein amino acid glycosylation ; GO:0006486 REAB|The alpha-1,3-fucosyltransferases constitute a large family of glycosyltransferases |with a high degree of homology. The enzymes of this family comprise 3 main activity |patterns called myeloid, plasma, and Lewis, based on their capacity to transfer |alpha-L-fucose to distinct oligosaccharide acceptors, their sensitivity to N-ethylmaleimide |inhibition, their cation requirements, and their tissue-specific expression patterns. |The different categories of alpha-1,3-fucosyltransferases are sequentially expressed |during embryo-fetal development.[supplied by OMIM] CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=32956 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=515090 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2528[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135180 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000150 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000150 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 DBL|UNIGENE:Hs.32956 |UNIGENE:Hs.515090 |OMIM:136836 |SNP:2528 ENZ|EC:2.4.1.65 |transferase activity, transferring glycosyl groups ; GO:0016757 |3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity ; GO:0017060 MAP|19p13.3 PHP|Fucosyltransferase-6 deficiency CEL|Golgi apparatus ; GO:0005794 |extracellular ; GO:0005576 |integral to membrane ; GO:0016021 HG|species == chimp; score == 749; expect == 0.0; MEOW:sp|P56434|FUT6_PANTR (96%) |species == chimp; score == 670; expect == 0.0; MEOW:sp|P56433|FUT5_PANTR (85%) |species == Human; gene == FUT5; score == 669; expect == 0.0; MEOW:HUgn0002527 (85%) |species == Human; gene == FUT3; score == 641; expect == 0.0; MEOW:HUgn0002525 (84%) |species == chimp; score == 636; expect == 0.0; MEOW:sp|O19058|FUT3_PANTR (81%) |species == Mouse; gene == Fut7; score == 270; expect == 7.8e-73; MEOW:MGgn0004468 (46%) |species == rat; score == 267; expect == 7.7e-72; MEOW:ref|XP_231061.2| (46%) |species == Mouse; gene == Fut9; score == 255; expect == 2.6e-68; MEOW:MGgn0004469 (43%) |species == rat; score == 253; expect == 1.1e-67; MEOW:ref|NP_445917.1| (43%) |species == Mouse; gene == Fut4; score == 241; expect == 2.3e-64; MEOW:MGgn0004466 (42%) |species == rat; score == 236; expect == 1.1e-62; MEOW:ref|NP_071555.1| (41%) |species == Zfish; gene == ft1; score == 223; expect == 8.7e-60; MEOW:ZFgn0000294 (37%) |species == Zfish; gene == ft2; score == 207; expect == 3.8e-55; MEOW:ZFgn0000295 (38%) |species == Mosquito; score == 156; expect == 1.4e-38; MEOW:AGgn0014791 (38%) |species == Fruitfly; gene == FucTA; score == 148; expect == 3.0e-36; MEOW:FBgn0036485 (36%) |species == Worm; gene == fut-4; score == 130; expect == 7.7e-31; MEOW:CEgn0013896 (29%) } # EOR GENR { RETE|ID 1 HUgn0002529 CHR 1 9 DID 1 LocusLink:2529 MAP 1 9q34.3 NAM 1 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) ORG 1 Homo sapiens SYM 1 FUT7 ID|HUgn0002529 DID|LocusLink:2529 ORG|Homo sapiens RSQ|REFSEQ:NM_004479 RPA|REFPROT:NP_004470 DBA|XM:NM_004479 |NA:AB012668 |NA:U08112 |NA:U11282 |NA:X78031 |NA:none PAC|XP:NP_004470 SYM|FUT7 NAM|fucosyltransferase 7 (alpha (1,3) fucosyltransferase) FNC|fucosyltransferase 7 (alpha (1,3) fucosyltransferase) |regulation of transcription, DNA-dependent ; GO:0006355 |protein amino acid glycosylation ; GO:0006486 REAB|The sialyl Lewis x oligosaccharide determinant is an essential component of leukocyte |counterreceptors for E-selectin- (MIM 131210) and P-selectin- (MIM 173610) mediated |adhesions of leukocytes. This oligosaccharide molecule is displayed on the surfaces |of granulocytes, monocytes, and natural killer cells. Formation of leukocyte adhesions |to these selectins is an early and important step in the process that ultimately |allows leukocytes to leave the vascular tree and become recruited into lymphoid |tissues and sites of inflammation.[supplied by OMIM] CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=457 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2529[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:373982 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004479 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004479 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00603 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00512 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00604 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00533 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00051 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00563 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28434 DBL|UNIGENE:Hs.457 |OMIM:602030 |SNP:2529 ENZ|EC:2.4.1.- |fucosyltransferase activity ; GO:0008417 |DNA binding ; GO:0003677 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|9q34.3 CEL|Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 |nucleus ; GO:0005634 HG|species == rat; score == 560; expect == 3e-160; MEOW:ref|XP_231061.2| (81%) |species == Mouse; gene == Fut7; score == 540; expect == 6e-154; MEOW:MGgn0004468 (80%) |species == Human; gene == FUT5; score == 271; expect == 5.6e-73; MEOW:HUgn0002527 (47%) |species == chimp; score == 267; expect == 6.2e-72; MEOW:sp|P56433|FUT5_PANTR (46%) |species == Human; gene == FUT6; score == 265; expect == 2.9e-71; MEOW:HUgn0002528 (47%) |species == chimp; score == 263; expect == 8.4e-71; MEOW:sp|P56434|FUT6_PANTR (46%) |species == Human; gene == FUT4; score == 260; expect == 1.2e-69; MEOW:HUgn0002526 (40%) |species == Human; gene == FUT3; score == 252; expect == 1.8e-67; MEOW:HUgn0002525 (44%) |species == chimp; score == 252; expect == 4.6e-69; MEOW:sp|O19058|FUT3_PANTR (44%) |species == Human; gene == FUT9; score == 237; expect == 8.4e-63; MEOW:HUgn0010690 (42%) |species == Zfish; gene == ft2; score == 221; expect == 7.1e-58; MEOW:ZFgn0000295 (41%) |species == Zfish; gene == ft1; score == 218; expect == 6.0e-57; MEOW:ZFgn0000294 (41%) |species == Mosquito; score == 139; expect == 2.6e-33; MEOW:AGgn0014791 (31%) } # EOR GENR { RETE|ID 1 HUgn0002530 CHR 1 14 DID 1 LocusLink:2530 MAP 1 14q24.3 NAM 1 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) ORG 1 Homo sapiens SYM 1 FUT8 ID|HUgn0002530 DID|LocusLink:2530 ORG|Homo sapiens RSQ|REFSEQ:NM_004480 |REFSEQ:NM_178154 |REFSEQ:NM_178155 |REFSEQ:NM_178156 |REFSEQ:NM_178157 RPA|REFPROT:NP_004471 |REFPROT:NP_835367 |REFPROT:NP_835368 |REFPROT:NP_835369 |REFPROT:NP_835370 DBA|XM:NM_004480 |XM:NM_178154 |XM:NM_178155 |XM:NM_178156 |XM:NM_178157 |NA:AB032572 |NA:AB032573 |NA:AB049828 |NA:AF038280 |NA:AF038281 |NA:AB049740 |NA:AF052088 |NA:AJ514324 |NA:AJ514325 |NA:AJ536053 |NA:AJ536054 |NA:AJ536055 |NA:AJ536056 |NA:AJ539535 |NA:AJ539536 |NA:BC025385 |NA:BC028147 |NA:BC045750 |NA:BQ962258 |NA:D89289 |NA:Y17976 |NA:Y17977 |NA:Y17978 |NA:Y17979 |NA:none PAC|XP:NP_004471 |XP:NP_835367 |XP:NP_835368 |XP:NP_835369 |XP:NP_835370 SYM|FUT8 NAM|fucosyltransferase 8 (alpha (1,6) fucosyltransferase) SYN|MGC26465 FNC|fucosyltransferase 8 isoform a |fucosyltransferase 8 isoform b |fucosyltransferase 8 isoform c REAB|This enzyme belongs to the family of fucosyltransferases. The product of this gene |catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. |This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, |alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute |to the malignancy of cancer cells and to their invasive and metastatic capabilities. |Alternatively spliced variants encoding different isoforms have been identified. CHR|14 PRD|alpha1-6FucT |glycoprotein 6-alpha-L-fucosyltransferase |GDP-fucose--glycoprotein fucosyltransferase |GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118722 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2530[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9786294 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_178155 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_178155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118722 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00533 DBL|UNIGENE:Hs.118722 |OMIM:602589 |SNP:2530 ENZ|EC:2.4.1.68 MAP|14q24.3 HG|species == Mouse; gene == Fut8; score == 848; expect == 0.0; MEOW:MGgn0014037 (96%) |species == Mosquito; gene == LOC20189; score == 545; expect == 1e-155; MEOW:AGgn0020189 (58%) |species == rat; score == 538; expect == 2e-153; MEOW:ref|XP_234325.2| (97%) |species == Fruitfly; gene == FucT6; score == 525; expect == 2e-149; MEOW:FBgn0030327 (57%) |species == Worm; gene == fut-8; score == 360; expect == 5e-100; MEOW:CEgn0004562 (45%) } # EOR GENR { RETE|ID 1 HUgn0002531 CHR 1 18 DID 1 LocusLink:2531 MAP 1 18q21.3 NAM 1 follicular lymphoma variant translocation 1 ORG 1 Homo sapiens SYM 1 FVT1 ID|HUgn0002531 DID|LocusLink:2531 ORG|Homo sapiens RSQ|REFSEQ:NM_002035 RPA|REFPROT:NP_002026 DBA|XM:NM_002035 |NA:AK025120 |NA:BC008797 |NA:BT006782 |NA:X63657 |NA:none PAC|XP:NP_002026 SYM|FVT1 NAM|follicular lymphoma variant translocation 1 FNC|follicular lymphoma variant translocation 1 |cell growth and/or maintenance ; GO:0008151 |metabolism ; GO:0008152 REAB|Follicular lymphoma variant translocation 1 is a secreted protein which is weakly |expressed in hematopoietic tissue. FVT1 shows a high rate of transcription in some |T-cell malignancies and in phytohemagglutinin-stimulated lymphocytes. The proximity |of FVT1 to BCL2 suggests that it may participate in the tumoral process CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74050 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2531[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002035 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002035 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74050 DBL|UNIGENE:Hs.74050 |OMIM:136440 |SNP:2531 MAP|18q21.3 PHP|Lymphoma/leukemia, B-cell, variant CEL|extracellular space ; GO:0005615 ENZ|oxidoreductase activity ; GO:0016491 HG|species == Mouse; gene == 6330410P18Rik; score == 582; expect == 1e-166; MEOW:MGgn0026393 (92%) |species == rat; score == 582; expect == 7e-167; MEOW:ref|XP_341107.1| (92%) |species == Mosquito; gene == LOC14198; score == 255; expect == 2.0e-68; MEOW:AGgn0014198 (43%) |species == Fruitfly; gene == CG10425; score == 233; expect == 1.1e-61; MEOW:FBgn0039304 (38%) |species == Weed; gene == At3g06060; score == 185; expect == 3.5e-47; MEOW:ATgn0016102 (36%) |species == rice; score == 176; expect == 2.7e-44; MEOW:gnl|TIGR|8351.m04497 (36%) |species == Weed; gene == At5g19200; score == 174; expect == 6.1e-44; MEOW:ATgn0024974 (33%) } # EOR GENR { RETE|ID 1 HUgn0002532 CHR 1 1 DID 1 LocusLink:2532 MAP 1 1q21-q22 NAM 1 Duffy blood group ORG 1 Homo sapiens SYM 1 FY ID|HUgn0002532 DID|LocusLink:2532 ORG|Homo sapiens RSQ|REFSEQ:NM_002036 RPA|REFPROT:NP_002027 DBA|XM:NM_002036 |NA:S76830 |NA:X85785 |NA:BC017817 |NA:BX537430 |NA:U01839 |NA:none PAC|XP:NP_002027 SYM|FY NAM|Duffy blood group SYN|GPD |DARC |CCBP1 FNC|Duffy blood group |G-protein coupled receptor protein signaling pathway ; GO:0007186 CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=517102 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2532[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119242 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002036 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002036 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=517102 |http://www.geneclinics.org/query?mim=110700 |http://www.bioc.aecom.yu.edu/bgmut/duffy.htm DBL|UNIGENE:Hs.183 |UNIGENE:Hs.517102 |OMIM:110700 |SNP:2532 MAP|1q21-q22 PHP|Vivax malaria, susceptibility to}, [Blood group, Duffy system CEL|integral to plasma membrane ; GO:0005887 ENZ|rhodopsin-like receptor activity ; GO:0001584 HG|species == chimp; score == 553; expect == 5e-158; MEOW:sp|Q95LF3|DUFF_PANTR (98%) |species == Mouse; gene == Dfy; score == 382; expect == 1e-106; MEOW:MGgn0003392 (60%) } # EOR GENR { RETE|ID 1 HUgn0002533 CHR 1 5 DID 1 LocusLink:2533 MAP 1 5p13.1 NAM 1 FYN binding protein (FYB-120/130) ORG 1 Homo sapiens SYM 1 FYB ID|HUgn0002533 DID|LocusLink:2533 ORG|Homo sapiens RSQ|REFSEQ:NM_001465 RPA|REFPROT:NP_001456 DBA|XM:NM_001465 |NA:AF001862 |NA:AF116653 |NA:AF198052 |NA:BC015933 |NA:BC017775 |NA:BX647195 |NA:BX647196 |NA:U93049 PAC|XP:NP_001456 SYM|FYB NAM|FYN binding protein (FYB-120/130) SYN|ADAP |PRO0823 |SLAP-130 FNC|FYN binding protein (FYB-120/130) |NLS-bearing substrate-nucleus import ; GO:0006607 |protein kinase cascade ; GO:0007243 |protein amino acid phosphorylation ; GO:0006468 |immune response ; GO:0006955 |signal transduction ; GO:0007165 CHR|5 PRD|FYN-binding protein (FYB-120/130) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=276506 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2533[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836132 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001465 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001465 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=276506 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28452 DBL|UNIGENE:Hs.276506 |OMIM:602731 |SNP:2533 MAP|5p13.1 PHP|FYN-binding protein; modulates interleukin 2 production ENZ|protein binding ; GO:0005515 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Fyb; score == 798; expect == 0.0; MEOW:MGgn0004481 (75%) |species == rat; score == 453; expect == 3e-127; MEOW:ref|XP_226812.2| (67%) } # EOR GENR { RETE|ID 1 HUgn0002534 CHR 1 6 DID 1 LocusLink:2534 MAP 1 6q21 NAM 1 FYN oncogene related to SRC, FGR, YES ORG 1 Homo sapiens SYM 1 FYN ID|HUgn0002534 DID|LocusLink:2534 ORG|Homo sapiens RSQ|REFSEQ:NM_002037 |REFSEQ:NM_153047 |REFSEQ:NM_153048 RPA|REFPROT:NP_002028 |REFPROT:NP_694592 |REFPROT:NP_694593 DBA|XM:NM_002037 |XM:NM_153047 |XM:NM_153048 |NA:AK056699 |NA:BC032496 |NA:M14333 |NA:M14676 |NA:S74774 |NA:none PAC|XP:NP_002028 |XP:NP_694592 |XP:NP_694593 SYM|FYN NAM|FYN oncogene related to SRC, FGR, YES SYN|SLK |SYN |MGC45350 FNC|protein-tyrosine kinase fyn isoform a |protein-tyrosine kinase fyn isoform b |protein-tyrosine kinase fyn isoform c |learning ; GO:0007612 |protein kinase cascade ; GO:0007243 |protein amino acid phosphorylation ; GO:0006468 |feeding behavior ; GO:0007631 REAB|This gene is a member of the protein-tyrosine kinase oncogene family. It encodes |a membrane-associated tyrosine kinase that has been implicated in the control of |cell growth. The protein associates with the p85 subunit of phosphatidylinositol |3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript |variants encoding distinct isoforms exist. CHR|6 PRD|src-like kinase |c-syn protooncogene |tyrosine kinase p59fyn(T) |src/yes-related novel gene |OKT3-induced calcium influx regulator |proto-oncogene tyrosine-protein kinase fyn URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2534[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118797 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002037 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002037 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=390567 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28454 DBL|UNIGENE:Hs.390567 |OMIM:137025 |SNP:2534 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 MAP|6q21 HG|species == rat; score == 1076; expect == 0.0; MEOW:ref|NP_036887.1| (99%) |species == Mouse; gene == Fyn; score == 1001; expect == 0.0; MEOW:MGgn0004482 (93%) |species == Human; gene == YES1; score == 785; expect == 0.0; MEOW:HUgn0007525 (72%) |species == Human; gene == FGR; score == 758; expect == 0.0; MEOW:HUgn0002268 (70%) |species == Human; gene == SRC; score == 745; expect == 0.0; MEOW:HUgn0006714 (75%) |species == Mosquito; score == 569; expect == 1e-162; MEOW:AGgn0005994 (63%) |species == Fruitfly; gene == Src64B; score == 512; expect == 1e-145; MEOW:FBgn0003501 (53%) |species == Worm; gene == src-2; score == 511; expect == 2e-145; MEOW:CEgn0026958 (57%) |species == Mosquito; score == 510; expect == 9e-145; MEOW:AGgn0010020 (52%) |species == Zfish; gene == itk; score == 319; expect == 1.1e-88; MEOW:ZFgn0000238 (39%) |species == chimp; score == 171; expect == 2.2e-44; MEOW:sp|BAC78172|BAC78172 (34%) |species == rice; score == 167; expect == 1.9e-41; MEOW:gnl|TIGR|8355.m02702 (36%) |species == Weed; gene == At2g17700; score == 162; expect == 4.4e-40; MEOW:ATgn0028393 (35%) |species == Weed; gene == At4g35780; score == 161; expect == 7.5e-40; MEOW:ATgn0017130 (35%) |species == rice; score == 161; expect == 2.2e-39; MEOW:gnl|TIGR|8357.m03093 (35%) |species == Weed; gene == At4g31170; score == 159; expect == 3.5e-39; MEOW:ATgn0018674 (37%) |species == Weed; gene == At2g24360; score == 156; expect == 2.4e-38; MEOW:ATgn0008622 (37%) |species == Weed; gene == At4g38470; score == 155; expect == 5.4e-38; MEOW:ATgn0020261 (35%) |species == rice; score == 155; expect == 1.2e-37; MEOW:gnl|TIGR|8352.m04814 (34%) |species == rice; score == 154; expect == 1.2e-37; MEOW:gnl|TIGR|8352.m05524 (36%) |species == rice; score == 154; expect == 3.4e-37; MEOW:gnl|TIGR|8356.m01204 (34%) |species == rice; score == 152; expect == 1.0e-36; MEOW:gnl|TIGR|8354.m04232 (35%) |species == rice; score == 147; expect == 2.5e-35; MEOW:gnl|TIGR|8351.m00694 (34%) |species == Weed; gene == At5g11850; score == 144; expect == 1.2e-34; MEOW:ATgn0025217 (34%) |species == Weed; gene == At1g67890; score == 142; expect == 3.6e-34; MEOW:ATgn0006424 (35%) |species == Weed; gene == At5g49470; score == 142; expect == 3.6e-34; MEOW:ATgn0022825 (34%) |species == Weed; gene == At3g06640; score == 141; expect == 1.1e-33; MEOW:ATgn0016813 (33%) |species == rice; score == 140; expect == 5.1e-33; MEOW:gnl|TIGR|8350.m00074 (29%) |species == rice; score == 140; expect == 5.1e-33; MEOW:gnl|TIGR|8360.m00536 (34%) |species == rice; score == 139; expect == 8.8e-33; MEOW:gnl|TIGR|8359.m03563 (34%) |species == Weed; gene == At3g06620; score == 138; expect == 6.8e-33; MEOW:ATgn0016803 (34%) } # EOR GENR { RETE|ID 1 HUgn0002535 CHR 1 17 DID 1 LocusLink:2535 MAP 1 17q21.1 NAM 1 frizzled homolog 2 (Drosophila) ORG 1 Homo sapiens SYM 1 FZD2 ID|HUgn0002535 DID|LocusLink:2535 ORG|Homo sapiens RSQ|REFSEQ:NM_001466 RPA|REFPROT:NP_001457 DBA|XM:NM_001466 |NA:AB017364 |NA:BC036881 |NA:BC052266 |NA:L37882 |NA:none PAC|XP:NP_001457 SYM|FZD2 NAM|frizzled homolog 2 (Drosophila) FNC|frizzled 2 |establishment of tissue polarity ; GO:0007164 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |development ; GO:0007275 REAB|Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that |are receptors for Wnt signaling proteins. The expression of the FZD2 gene appears |to be developmentally regulated, with high levels of expression in fetal kidney |and lung and in adult colon and ovary. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=142912 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2535[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:597641 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001466 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001466 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=142912 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28457 DBL|UNIGENE:Hs.142912 |OMIM:600667 |SNP:2535 MAP|17q21.1 ENZ|G-protein coupled receptor activity ; GO:0004930 |non-G-protein coupled 7TM receptor activity ; GO:0004926 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1099; expect == 0.0; MEOW:ref|XP_346409.1| (99%) |species == Mouse; gene == Fzd2; score == 1093; expect == 0.0; MEOW:MGgn0014405 (99%) |species == Human; gene == FZD7; score == 912; expect == 0.0; MEOW:HUgn0008324 (78%) |species == rat; score == 911; expect == 0.0; MEOW:ref|XP_237191.2| (79%) |species == Mouse; gene == Fzd7; score == 909; expect == 0.0; MEOW:MGgn0004491 (79%) |species == Human; gene == FZD1; score == 896; expect == 0.0; MEOW:HUgn0008321 (79%) |species == Mouse; gene == Fzd1; score == 894; expect == 0.0; MEOW:MGgn0004484 (79%) |species == rat; score == 893; expect == 0.0; MEOW:ref|XP_346688.1| (78%) |species == Zfish; gene == fzd7a; score == 882; expect == 0.0; MEOW:ZFgn0000501 (75%) |species == Fruitfly; gene == fz; score == 509; expect == 9e-145; MEOW:FBgn0001085 (47%) |species == Worm; gene == mom-5; score == 388; expect == 3e-108; MEOW:CEgn0002046 (38%) |species == Mosquito; gene == LOC24916; score == 371; expect == 4e-103; MEOW:AGgn0024916 (52%) |species == Worm; gene == cfz-2; score == 328; expect == 6.1e-90; MEOW:CEgn0027964 (36%) } # EOR GENR { RETE|ID 1 HUgn0002537 CHR 1 1 DID 1 LocusLink:2537 MAP 1 1p35 NAM 1 interferon, alpha-inducible protein (clone IFI-6-16) ORG 1 Homo sapiens SYM 1 G1P3 ID|HUgn0002537 DID|LocusLink:2537 ORG|Homo sapiens RSQ|REFSEQ:NM_002038 |REFSEQ:NM_022872 |REFSEQ:NM_022873 RPA|REFPROT:NP_002029 |REFPROT:NP_075010 |REFPROT:NP_075011 DBA|XM:NM_002038 |XM:NM_022872 |XM:NM_022873 |NA:U22970 |NA:AK024814 |NA:BC011601 |NA:BC015603 |NA:X02492 |NA:none PAC|XP:NP_002029 |XP:NP_075010 |XP:NP_075011 SYM|G1P3 NAM|interferon, alpha-inducible protein (clone IFI-6-16) SYN|6-16 |IFI616 FNC|interferon induced 6-16 protein isoform a |interferon induced 6-16 protein isoform b |interferon induced 6-16 protein isoform c |immune response ; GO:0006955 REAB|This gene is an interferon-stimulated gene (ISG). The type I- (alpha and beta) interferons |induce transcription while type II- (gamma) interferon is a poor transcription inducer |for this gene. A minisatellite repeat region, of varying lengths, has been found |at the end of exon 2 and the beginning of intron 2. Alternative splicing occurs |due to the use of alternative splice donor sites provided by the minisatellite sequence. |Three alternatively spliced transcript variants have been described. The encoded |product is a hydrophobic protein and thought to be present in the membrane. It is |postulated to be a precursor protein but its signal peptide region has not been |confirmed. The function of the encoded protein has not been determined. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=287721 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2537[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125867 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_022873 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_022873 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=287721 DBL|UNIGENE:Hs.287721 |OMIM:147572 |SNP:2537 MAP|1p35 CEL|integral to membrane ; GO:0016021 HG|species == chimp; score == 223; expect == 2.8e-59; MEOW:sp|Q28808|INI2_PANTR (98%) } # EOR GENR { RETE|ID 1 HUgn0002538 CHR 1 17 DID 1 LocusLink:2538 MAP 1 17q21 NAM 1 glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) ORG 1 Homo sapiens SYM 1 G6PC ID|HUgn0002538 DID|LocusLink:2538 ORG|Homo sapiens RSQ|REFSEQ:NM_000151 RPA|REFPROT:NP_000142 DBA|XM:NM_000151 |NA:AF097831 |NA:U01120 |NA:none PAC|XP:NP_000142 SYM|G6PC NAM|glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) SYN|G6PT |GSD1a FNC|glucose-6-phosphatase, catalytic REAB|Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum |that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. |It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. | Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). CHR|17 PRD|Glucose-6-phosphatase, catalytic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2538[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:231927 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000151 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000151 |http://www.geneclinics.org/query?mim=232200 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.435783 |OMIM:232200 |SNP:2538 |UWCM:231927.html ENZ|EC:3.1.3.9 MAP|17q21 PHP|Glycogen storage disease I HG|species == Mouse; gene == G6pc; score == 633; expect == 0.0; MEOW:MGgn0004500 (88%) |species == rat; score == 617; expect == 4e-177; MEOW:ref|NP_037230.1| (86%) |species == Human; gene == IGRP; score == 373; expect == 7e-104; MEOW:HUgn0057818 (50%) } # EOR GENR { RETE|ID 1 HUgn0002539 CHR 1 X DID 1 LocusLink:2539 MAP 1 Xq28 NAM 1 glucose-6-phosphate dehydrogenase ORG 1 Homo sapiens SYM 1 G6PD ID|HUgn0002539 DID|LocusLink:2539 ORG|Homo sapiens RSQ|REFSEQ:NM_000402 RPA|REFPROT:NP_000393 DBA|XM:NM_000402 |NA:AF277315 |NA:L44140 |NA:M65234 |NA:X53815 |NA:X55448 |NA:BC000337 |NA:M21248 |NA:M27940 |NA:S58359 |NA:X03674 |NA:none PAC|XP:NP_000393 SYM|G6PD NAM|glucose-6-phosphate dehydrogenase SYN|G6PD1 FNC|glucose-6-phosphate dehydrogenase |pentose-phosphate shunt ; GO:0006098 |glucose 6-phosphate utilization ; GO:0006010 REAB|This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic |enzyme encoded by a housekeeping X-linked gene whose main function is to produce |NADPH, a key electron donor in the defense against oxidizing agents and in reductive |biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants |of G6PD, mostly produced from missense mutations, have been described with wide |ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency |may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic |hemolytic anemia. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80206 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2539[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120621 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000402 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000402 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=80206 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=2539 |http://www.geneclinics.org/query?mim=305900 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00480 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00030 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28469 |http://rialto.com/favism/mutat.htm DBL|UNIGENE:Hs.80206 |OMIM:305900 |SNP:2539 |UWCM:120621.html |IXDB:525401 ENZ|EC:1.1.1.49 |glucose-6-phosphate 1-dehydrogenase activity ; GO:0004345 |oxidoreductase activity ; GO:0016491 MAP|Xq28 PHP|Favism |G6PD deficiency |Hemolytic anemia due to G6PD deficiency CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == G6pdx; score == 996; expect == 0.0; MEOW:MGgn0004504 (93%) |species == Mouse; gene == G6pd2; score == 928; expect == 0.0; MEOW:MGgn0004503 (86%) |species == rat; score == 764; expect == 0.0; MEOW:ref|XP_346881.1| (94%) |species == Mosquito; score == 684; expect == 0.0; MEOW:AGgn0018551 (66%) |species == Mosquito; gene == LOC12074; score == 667; expect == 0.0; MEOW:AGgn0012074 (67%) |species == Fruitfly; gene == Zw; score == 659; expect == 0.0; MEOW:FBgn0004057 (64%) |species == Worm; gene == B0035.5; score == 611; expect == 2e-175; MEOW:CEgn0003169 (61%) |species == Weed; gene == At5g40760; score == 515; expect == 2e-146; MEOW:ATgn0026591 (53%) |species == Weed; gene == At3g27300; score == 511; expect == 5e-145; MEOW:ATgn0012961 (52%) |species == Weed; gene == At1g24280; score == 449; expect == 1e-126; MEOW:ATgn0000565 (47%) |species == Weed; gene == At5g13110; score == 445; expect == 2e-125; MEOW:ATgn0026035 (47%) |species == rice; score == 440; expect == 1e-123; MEOW:gnl|TIGR|8352.m03742 (49%) |species == Yeast; gene == ZWF1; score == 439; expect == 1e-123; MEOW:SGgn0005185 (47%) |species == Weed; gene == At5g35790; score == 438; expect == 4e-123; MEOW:ATgn0022166 (46%) |species == rice; score == 431; expect == 1e-120; MEOW:gnl|TIGR|8355.m01973 (47%) |species == rice; score == 423; expect == 2e-118; MEOW:gnl|TIGR|8360.m02703 (43%) |species == rice; score == 359; expect == 3.9e-99; MEOW:gnl|TIGR|8360.m01868 (41%) |species == ecoli; score == 306; expect == 2.2e-83; MEOW:ref|NP_416366.1| (37%) |species == Human; gene == H6PD; score == 223; expect == 2.0e-58; MEOW:HUgn0009563 (32%) } # EOR GENR { RETE|ID 1 HUgn0002540 CHR 1 17 DID 1 LocusLink:2540 MAP 1 17 NAM 1 glucose-6-phosphate dehydrogenase-like ORG 1 Homo sapiens SYM 1 G6PDL ID|HUgn0002540 DID|LocusLink:2540 ORG|Homo sapiens SYM|G6PDL NAM|glucose-6-phosphate dehydrogenase-like CHR|17 DBL|OMIM:138110 MAP|17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119243 } # EOR GENR { RETE|ID 1 HUgn0002541 DID 1 LocusLink:2541 NAM 1 glucose-6-phosphatase, regulatory ORG 1 Homo sapiens SYM 1 G6PR ID|HUgn0002541 DID|LocusLink:2541 ORG|Homo sapiens SYM|G6PR NAM|glucose-6-phosphatase, regulatory SYN|GSD1aSP URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862965 } # EOR GENR { RETE|ID 1 HUgn0002542 CHR 1 11 DID 1 LocusLink:2542 MAP 1 11q23.3 NAM 1 solute carrier family 37 (glycerol-6-phosphate transporter), member 4 ORG 1 Homo sapiens SYM 1 SLC37A4 ID|HUgn0002542 DID|LocusLink:2542 ORG|Homo sapiens RSQ|REFSEQ:NM_001467 RPA|REFPROT:NP_001458 DBA|XM:NM_001467 |NA:AF078163 |NA:Y17864 |NA:AF111852 |NA:BC002400 |NA:BC003589 |NA:BC014663 |NA:BC015650 |NA:Y15409 PAC|XP:NP_001458 SYM|SLC37A4 NAM|solute carrier family 37 (glycerol-6-phosphate transporter), member 4 SYN|G6PT1 |GSD1b |PRO0685 |MGC15729 FNC|solute carrier family 37 (glycerol-6-phosphate transporter), member 4 |glycogen metabolism ; GO:0005977 |glucose metabolism ; GO:0006006 |small molecule transport ; GO:0006832 CHR|11 PRD|Glucose-6-phosphate transporter-1 |glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=132760 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2542[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9862966 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001467 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001467 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=132760 |http://www.geneclinics.org/query?mim=602671 DBL|UNIGENE:Hs.132760 |OMIM:602671 |SNP:2542 MAP|11q23.3 PHP|Glycogen storage disease Ib |Glycogen storage disease Ic |Glucose 6-phosphate translocase; associated with glucose-6-phosphatase ENZ|transporter activity ; GO:0005215 CEL|microsome ; GO:0005792 |endoplasmic reticulum ; GO:0005783 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == G6pt1; score == 768; expect == 0.0; MEOW:MGgn0004508 (93%) |species == rat; score == 767; expect == 0.0; MEOW:ref|NP_113777.1| (93%) |species == ecoli; score == 223; expect == 1.3e-58; MEOW:ref|NP_418123.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0002543 CHR 1 X DID 1 LocusLink:2543 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 1 ORG 1 Homo sapiens SYM 1 GAGE1 ID|HUgn0002543 DID|LocusLink:2543 ORG|Homo sapiens RSQ|REFSEQ:NM_001468 RPA|REFPROT:NP_001459 DBA|XM:NM_001468 |NA:U19142 |NA:none PAC|XP:NP_001459 SYM|GAGE1 NAM|G antigen 1 FNC|G antigen 1 |cellular defense response ; GO:0006968 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The GAGE1 cDNA |contains a 143-bp insertion, located in the coding sequence near the termination |codon, that is absent from the other cDNAs.The antigenic peptide YRPRPRRY, which |is also encoded by several other family members, is recognized by autologous cytolytic |T lymphocytes. Nothing is presently known about the function of this protein. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=251406 |http://www.gdb.org/gdb-bin/genera/accno?GDB:568796 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001468 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001468 DBL|UNIGENE:Hs.251406 |OMIM:604243 |SNP:2543 MAP|Xp11.4-p11.2 HG|species == Human; gene == GAGE4; score == 195; expect == 2.7e-51; MEOW:HUgn0002576 (97%) |species == Human; gene == GAGE5; score == 194; expect == 7.8e-51; MEOW:HUgn0002577 (96%) |species == Human; gene == GAGE7; score == 193; expect == 1.7e-50; MEOW:HUgn0002579 (96%) |species == Human; gene == GAGE7B; score == 193; expect == 1.7e-50; MEOW:HUgn0026748 (96%) |species == Human; gene == GAGE6; score == 192; expect == 2.3e-50; MEOW:HUgn0002578 (95%) |species == Human; gene == LOC374304; score == 177; expect == 2.3e-45; MEOW:HUgn0374304 (74%) |species == Human; gene == GAGE8; score == 168; expect == 4.6e-43; MEOW:HUgn0026749 (100%) |species == Human; gene == GAGE2; score == 165; expect == 3.0e-42; MEOW:HUgn0002574 (99%) } # EOR GENR { RETE|ID 1 HUgn0002544 CHR 1 11 DID 1 LocusLink:2544 MAP 1 11q23.3-q24.2 NAM 1 glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 ORG 1 Homo sapiens SYM 1 G6PT2 ID|HUgn0002544 DID|LocusLink:2544 ORG|Homo sapiens SYM|G6PT2 NAM|glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 SYN|GSD1c CHR|11 MAP|11q23.3-q24.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862967 } # EOR GENR { RETE|ID 1 HUgn0002545 DID 1 LocusLink:2545 NAM 1 glucose-6-phosphatase, transport (glucose) protein 3 ORG 1 Homo sapiens SYM 1 G6PT3 ID|HUgn0002545 DID|LocusLink:2545 ORG|Homo sapiens SYM|G6PT3 NAM|glucose-6-phosphatase, transport (glucose) protein 3 SYN|GSD1d URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9862968 } # EOR GENR { RETE|ID 1 HUgn0002546 CHR 1 7 DID 1 LocusLink:2546 MAP 1 7q22-q32 NAM 1 kinase-like protein ORG 1 Homo sapiens SYM 1 G7P1 ID|HUgn0002546 DID|LocusLink:2546 ORG|Homo sapiens SYM|G7P1 NAM|kinase-like protein CHR|7 DBL|OMIM:148750 MAP|7q22-q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119964 } # EOR GENR { RETE|ID 1 HUgn0002547 CHR 1 22 DID 1 LocusLink:2547 MAP 1 22q13.2-q13.31 NAM 1 thyroid autoantigen 70kDa (Ku antigen) ORG 1 Homo sapiens SYM 1 G22P1 ID|HUgn0002547 DID|LocusLink:2547 ORG|Homo sapiens RSQ|REFSEQ:NM_001469 RPA|REFPROT:NP_001460 DBA|XM:NM_001469 |NA:AK055786 |NA:BC001583 |NA:BC008343 |NA:BC010034 |NA:BC012154 |NA:BC018259 |NA:J04607 |NA:J04611 |NA:M32865 |NA:S38729 |NA:none PAC|XP:NP_001460 SYM|G22P1 NAM|thyroid autoantigen 70kDa (Ku antigen) SYN|ML8 |KU70 |TLAA |D22S671 |D22S731 FNC|thyroid autoantigen 70kDa (Ku antigen) |DNA ligation ; GO:0006266 |double-strand break repair via nonhomologous end-joining ; GO:0006303 REAB|The G22P1 gene encodes subunit p70 of the p70/p80 autoantigen. The p70/p80 autoantigen |consists of 2 proteins of molecular mass of approximately 70,000 and 80,000 daltons |that dimerize to form a 10 S DNA-binding complex. See MIM 194364 for discussion |of the gene encoding the p80 subunit. Exchange of immunologic reagents showed that |the p70/p80 autoantigen is identical to the Ku antigen, the Ki antigen, and the |86- to 70-kD protein complex. The p70/p80 complex binds to the ends of double-stranded |DNA in a cell cycle-dependent manner, being associated with chromosomes of interphase |cells, followed by complete dissociation from the condensing chromosomes in early |prophase. Both p70 and p80 contain phosphoserine residues. A role for the antigen |in DNA repair or transposition has been proposed.[supplied by OMIM] CHR|22 PRD|thyroid autoantigen 70kD (Ku antigen) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169744 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2547[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119963 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001469 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001469 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169744 DBL|UNIGENE:Hs.169744 |OMIM:152690 |SNP:2547 MAP|22q13.2-q13.31 ENZ|ATP dependent DNA helicase activity ; GO:0004003 |double-stranded DNA binding ; GO:0003690 |helicase activity ; GO:0004386 CEL|membrane fraction ; GO:0005624 |nucleus ; GO:0005634 HG|species == rat; score == 985; expect == 0.0; MEOW:ref|NP_620780.1| (83%) |species == Mouse; gene == G22p1; score == 971; expect == 0.0; MEOW:MGgn0004496 (82%) |species == Human; gene == LOC375834; score == 839; expect == 0.0; MEOW:HUgn0375834 (95%) |species == Weed; gene == At1g16970; score == 243; expect == 1.8e-64; MEOW:ATgn0005098 (31%) |species == Mosquito; gene == LOC10850; score == 223; expect == 1.4e-58; MEOW:AGgn0010850 (34%) |species == Fruitfly; gene == Irbp; score == 146; expect == 3.0e-35; MEOW:FBgn0011774 (24%) |species == rice; score == 145; expect == 5.2e-35; MEOW:gnl|TIGR|8355.m00767 (28%) } # EOR GENR { RETE|ID 1 HUgn0002548 CHR 1 17 DID 1 LocusLink:2548 MAP 1 17q25.2-q25.3 NAM 1 glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) ORG 1 Homo sapiens SYM 1 GAA ID|HUgn0002548 DID|LocusLink:2548 ORG|Homo sapiens RSQ|REFSEQ:NM_000152 RPA|REFPROT:NP_000143 DBA|XM:NM_000152 |NA:M34425 |NA:X55079 |NA:BC015908 |NA:BC040431 |NA:M34424 |NA:S76893 |NA:Y00839 |NA:none PAC|XP:NP_000143 SYM|GAA NAM|glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) SYN|LYAG FNC|acid alpha-glucosidase preproprotein |glycogen catabolism ; GO:0005980 |energy pathways ; GO:0006091 |carbohydrate metabolism ; GO:0005975 REAB|This gene encodes acid alpha-glucosidase, which is essential for the degradation |of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are |obtained by proteolytic processing. Defects in this gene are the cause of glycogen |storage disease II, also known as Pompe's disease, which is an autosomal recessive |disorder with a broad clinical spectrum. CHR|17 PRD|acid maltase |lysosomal alpha-glucosidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1437 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2548[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119965 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000152 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000152 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1437 |http://www.geneclinics.org/query?mim=232300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.eur.nl/FGG/CH1/pompe/ DBL|UNIGENE:Hs.1437 |OMIM:606800 |SNP:2548 ENZ|EC:3.2.1.3 |EC:3.2.1.20 |alpha-glucosidase activity ; GO:0004558 |hydrolase activity, hydrolyzing O-glycosyl compounds ; GO:0004553 MAP|17q25.2-q25.3 PHP|Glycogen storage disease II CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Gaa; score == 1561; expect == 0.0; MEOW:MGgn0004510 (80%) |species == Human; gene == MGAM; score == 715; expect == 0.0; MEOW:HUgn0008972 (41%) |species == rat; score == 705; expect == 0.0; MEOW:ref|XP_346625.1| (41%) |species == Human; gene == SI; score == 699; expect == 0.0; MEOW:HUgn0006476 (41%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_231714.2| (42%) |species == rat; score == 620; expect == 2e-177; MEOW:ref|XP_346214.1| (61%) |species == rice; score == 562; expect == 1e-159; MEOW:gnl|TIGR|8354.m04337 (40%) |species == Weed; gene == At5g11720; score == 561; expect == 6e-160; MEOW:ATgn0025183 (40%) |species == rice; score == 536; expect == 6e-152; MEOW:gnl|TIGR|8354.m04330 (38%) |species == Weed; gene == At1g68560; score == 526; expect == 2e-149; MEOW:ATgn0000344 (37%) |species == rice; score == 515; expect == 5e-146; MEOW:gnl|TIGR|8350.m07025 (38%) |species == Worm; gene == D2096.3; score == 503; expect == 2e-142; MEOW:CEgn0007470 (36%) |species == Worm; gene == R05F9.12; score == 501; expect == 7e-142; MEOW:CEgn0014452 (35%) |species == Weed; gene == At3g45940; score == 499; expect == 3e-141; MEOW:ATgn0012689 (36%) |species == Worm; gene == F53F4.8; score == 433; expect == 2e-121; MEOW:CEgn0011645 (33%) |species == Mosquito; gene == LOC10269; score == 300; expect == 1.9e-81; MEOW:AGgn0010269 (31%) |species == Yeast; gene == ROT2; score == 296; expect == 1.0e-80; MEOW:SGgn0000433 (28%) |species == Fruitfly; gene == CG14476; score == 278; expect == 4.7e-75; MEOW:FBgn0027588 (30%) } # EOR GENR { RETE|ID 1 HUgn0002549 CHR 1 4 DID 1 LocusLink:2549 MAP 1 4q31.1 NAM 1 GRB2-associated binding protein 1 ORG 1 Homo sapiens SYM 1 GAB1 ID|HUgn0002549 DID|LocusLink:2549 ORG|Homo sapiens RSQ|REFSEQ:NM_002039 RPA|REFPROT:NP_002030 DBA|XM:NM_002039 |NA:AK022142 |NA:U43885 PAC|XP:NP_002030 SYM|GAB1 NAM|GRB2-associated binding protein 1 FNC|GRB2-associated binding protein 1 |insulin receptor signaling pathway ; GO:0008286 |EGF receptor signaling pathway ; GO:0007173 |cell proliferation ; GO:0008283 REAB|Grb2-associated binding protein 1 is a member of the IRS-1-like multisubstrate docking |protein family. GAB1 is an important mediator of branching tubulogenesis and plays |a central role in cellular growth response, transformation and apoptosis. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=80720 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2549[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5302683 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002039 DBL|UNIGENE:Hs.80720 |OMIM:604439 |SNP:2549 MAP|4q31.1 ENZ|SH3/SH2 adaptor protein activity ; GO:0005070 |protein binding ; GO:0005515 HG|species == Mouse; gene == Gab1; score == 1216; expect == 0.0; MEOW:MGgn0004511 (89%) |species == rat; score == 1111; expect == 0.0; MEOW:ref|XP_341668.1| (81%) |species == Human; gene == GAB2; score == 340; expect == 1.9e-93; MEOW:HUgn0009846 (37%) } # EOR GENR { RETE|ID 1 HUgn0002550 CHR 1 6 DID 1 LocusLink:2550 MAP 1 6p21.31 NAM 1 gamma-aminobutyric acid (GABA) B receptor, 1 ORG 1 Homo sapiens SYM 1 GABBR1 ID|HUgn0002550 DID|LocusLink:2550 ORG|Homo sapiens RSQ|REFSEQ:NM_001470 |REFSEQ:NM_021903 |REFSEQ:NM_021904 |REFSEQ:NM_021905 RPA|REFPROT:NP_001461 |REFPROT:NP_068703 |REFPROT:NP_068704 |REFPROT:NP_068705 DBA|XM:NM_001470 |XM:NM_021903 |XM:NM_021904 |XM:NM_021905 |NA:AJ010170 |NA:AJ010191 |NA:AL160400 |NA:AF099148 |NA:AF301005 |NA:AJ012185 |NA:AJ012186 |NA:AJ012187 |NA:AJ012288 |NA:AJ225028 |NA:AJ225029 |NA:BC023336 |NA:BC041332 |NA:BC042598 |NA:BC050532 |NA:Y11044 |NA:none PAC|XP:NP_001461 |XP:NP_068703 |XP:NP_068704 |XP:NP_068705 SYM|GABBR1 NAM|gamma-aminobutyric acid (GABA) B receptor, 1 SYN|GPRC3A |GABABR1 FNC|gamma-aminobutyric acid (GABA) B receptor 1 isoform a precursor |gamma-aminobutyric acid (GABA) B receptor 1 isoform b precursor |gamma-aminobutyric acid (GABA) B receptor 1 isoform c precursor |gamma-aminobutyric acid (GABA) B receptor 1 isoform d precursor |negative regulation of adenylate cyclase activity ; GO:0007194 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |synaptic transmission ; GO:0007268 REAB|Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian |central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] |receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, |to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of |a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) |receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the |HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, |epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing |of this gene generates 4 transcript variants. CHR|6 PRD|hGB1a |GABAB(1e) |dJ271M21.1.1 |dJ271M21.1.2 |GABA-B receptor |GABAB, subunit 1c URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=167017 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2550[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836108 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001470 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001470 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=167017 DBL|UNIGENE:Hs.167017 |OMIM:603540 |SNP:2550 MAP|6p21.31 ENZ|GABA-B receptor activity ; GO:0004965 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabbr1; score == 1636; expect == 0.0; MEOW:MGgn0014234 (98%) |species == rat; score == 1288; expect == 0.0; MEOW:ref|NP_112290.1| (98%) |species == Fruitfly; gene == GABA-B-R1; score == 779; expect == 0.0; MEOW:FBgn0028924 (49%) |species == Mosquito; score == 745; expect == 0.0; MEOW:AGgn0002916 (49%) |species == Worm; gene == Y41G9A.4b; score == 619; expect == 2e-177; MEOW:CEgn0032713 (42%) |species == Human; gene == GPR51; score == 458; expect == 7e-129; MEOW:HUgn0009568 (35%) } # EOR GENR { RETE|ID 1 HUgn0002551 CHR 1 21 DID 1 LocusLink:2551 MAP 1 21q21-q22.1 NAM 1 GA binding protein transcription factor, alpha subunit 60kDa ORG 1 Homo sapiens SYM 1 GABPA ID|HUgn0002551 DID|LocusLink:2551 ORG|Homo sapiens RSQ|REFSEQ:NM_002040 RPA|REFPROT:NP_002031 DBA|XM:NM_002040 |NA:AP000226 |NA:BC035031 |NA:BX647755 |NA:D13318 |NA:U13044 |NA:none PAC|XP:NP_002031 SYM|GABPA NAM|GA binding protein transcription factor, alpha subunit 60kDa SYN|NFT2 |NRF2 |NRF2A |E4TF1A |E4TF1-60 FNC|GA binding protein transcription factor, alpha subunit (60kD) |regulation of transcription, DNA-dependent ; GO:0006355 |transcription from Pol II promoter ; GO:0006366 REAB|This gene encodes one of three GA-binding protein transcription factor subunits which |functions as a DNA-binding subunit. Since this subunit shares identity with a subunit |encoding the nuclear respiratory factor 2 gene, it is likely involved in activation |of cytochrome oxidase expression and nuclear control of mitochondrial function. | This subunit also shares identity with a subunit constituting the transcription |factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of |its chromosomal localization and ability to form heterodimers with other polypeptides, |this gene may play a role in the Down Syndrome phenotype. CHR|21 PRD|human nuclear respiratory factor-2 subunit alpha |GA binding protein transcription factor, alpha subunit (60kD) |GA-binding protein transcription factor, alpha subunit (60kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2551[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138476 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002040 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002040 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78 DBL|UNIGENE:Hs.78 |OMIM:600609 |SNP:2551 MAP|21q21-q22.1 ENZ|protein binding ; GO:0005515 |RNA polymerase II transcription factor activity ; GO:0003702 |transcription co-activator activity ; GO:0003713 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Gabpa; score == 870; expect == 0.0; MEOW:MGgn0004513 (95%) |species == rat; score == 861; expect == 0.0; MEOW:ref|XP_344003.1| (95%) |species == Zfish; gene == e4tf; score == 668; expect == 0.0; MEOW:ZFgn0000960 (75%) |species == Mosquito; score == 287; expect == 7.0e-78; MEOW:AGgn0003642 (41%) |species == Fruitfly; gene == Ets97D; score == 272; expect == 1.9e-73; MEOW:FBgn0004510 (39%) |species == Human; gene == ETS1; score == 144; expect == 1.3e-34; MEOW:HUgn0002113 (63%) |species == Human; gene == ETS2; score == 139; expect == 2.5e-33; MEOW:HUgn0002114 (61%) } # EOR GENR { RETE|ID 1 HUgn0002553 CHR 1 15 DID 1 LocusLink:2553 MAP 1 15q21.2 NAM 1 GA binding protein transcription factor, beta subunit 2, 47kDa ORG 1 Homo sapiens SYM 1 GABPB2 ID|HUgn0002553 DID|LocusLink:2553 ORG|Homo sapiens RSQ|REFSEQ:NM_002041 |REFSEQ:NM_005254 |REFSEQ:NM_016654 |REFSEQ:NM_016655 |REFSEQ:NM_181427 RPA|REFPROT:NP_002032 |REFPROT:NP_005245 |REFPROT:NP_057738 |REFPROT:NP_057739 |REFPROT:NP_852092 DBA|XM:NM_002041 |XM:NM_005254 |XM:NM_016654 |XM:NM_016655 |XM:NM_181427 |NA:BC004103 |NA:BC014238 |NA:BC016910 |NA:BC036080 |NA:BC050702 |NA:BE644609 |NA:BQ573816 |NA:BT006652 |NA:CB960428 |NA:D13316 |NA:D13317 |NA:U13045 |NA:U13046 |NA:U13047 |NA:U13048 |NA:none PAC|XP:NP_002032 |XP:NP_005245 |XP:NP_057738 |XP:NP_057739 |XP:NP_852092 SYM|GABPB2 NAM|GA binding protein transcription factor, beta subunit 2, 47kDa SYN|E4TF1 |GABPB |BABPB2 |E4TF1B |GABPB1 |NRF2B1 |NRF2B2 |E4TF1-47 |E4TF1-53 FNC|GA binding protein transcription factor, beta subunit 2 isoform beta 1 |GA binding protein transcription factor, beta subunit 2 isoform beta 2 |GA binding protein transcription factor, beta subunit 2 isoform gamma 1 |GA binding protein transcription factor, beta subunit 2 isoform gamma 2 |regulation of transcription, DNA-dependent ; GO:0006355 REAB|This gene encodes the GA-binding protein transcription factor, beta subunit. This |protein forms a tetrameric complex with the alpha subunit, and stimulates transcription |of target genes. The encoded protein may be involved in activation of cytochrome |oxidase expression and nuclear control of mitochondrial function. The crystal structure |of a similar protein in mouse has been resolved as a ternary protein complex. Multiple |transcript variants encoding distinct isoforms have been identified for this gene. CHR|15 PRD|nuclear respiratory factor-2 subunit beta |GA binding protein transcription factor, beta subunit 1, 53kDa DBL|OMIM:600610 |SNP:2553 MAP|15q21.2 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2553[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269893 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005254 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005254 ENZ|protein binding activity ; GO:0005515 HG|species == Mouse; gene == Gabpb1; score == 554; expect == 2e-158; MEOW:MGgn0004514 (94%) |species == rat; score == 534; expect == 3e-152; MEOW:ref|XP_344607.1| (94%) |species == rat; score == 494; expect == 3e-140; MEOW:ref|XP_342514.1| (95%) |species == Human; gene == MGC29891; score == 398; expect == 4e-111; MEOW:HUgn0126626 (71%) |species == Mosquito; score == 175; expect == 1.1e-44; MEOW:AGgn0020437 (54%) } # EOR GENR { RETE|ID 1 HUgn0002554 CHR 1 5 DID 1 LocusLink:2554 MAP 1 5q34-q35 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 ORG 1 Homo sapiens SYM 1 GABRA1 ID|HUgn0002554 DID|LocusLink:2554 ORG|Homo sapiens RSQ|REFSEQ:NM_000806 RPA|REFPROT:NP_000797 DBA|XM:NM_000806 |NA:S69334 |NA:AW148652 |NA:BC030696 |NA:BM927274 |NA:X13584 |NA:X14766 |NA:none PAC|XP:NP_000797 SYM|GABRA1 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 1 FNC|gamma-aminobutyric acid (GABA) A receptor, alpha 1 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=175934 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2554[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119966 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000806 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000806 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=175934 DBL|UNIGENE:Hs.175934 |OMIM:137160 |SNP:2554 MAP|5q34-q35 PHP|Epilepsy, juvenile myoclonic ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabra1; score == 818; expect == 0.0; MEOW:MGgn0004517 (98%) |species == rat; score == 818; expect == 0.0; MEOW:ref|XP_220350.2| (98%) |species == Human; gene == GABRA2; score == 642; expect == 0.0; MEOW:HUgn0002555 (80%) |species == Human; gene == GABRA3; score == 622; expect == 2e-178; MEOW:HUgn0002556 (73%) |species == Human; gene == GABRA5; score == 613; expect == 8e-176; MEOW:HUgn0002558 (74%) |species == Mosquito; gene == LOC17339; score == 295; expect == 1.5e-80; MEOW:AGgn0017339 (46%) |species == Zfish; gene == glra1; score == 258; expect == 1.9e-70; MEOW:ZFgn0000643 (37%) |species == Zfish; gene == glra3; score == 258; expect == 3.3e-70; MEOW:ZFgn0002512 (37%) |species == Worm; gene == gab-1; score == 251; expect == 5.3e-67; MEOW:CEgn0030056 (39%) |species == Mosquito; score == 250; expect == 5.6e-67; MEOW:AGgn0017404 (41%) |species == Fruitfly; gene == Lcch3; score == 250; expect == 7.7e-67; MEOW:FBgn0010240 (41%) |species == Zfish; gene == glra4a; score == 237; expect == 6.0e-64; MEOW:ZFgn0002134 (42%) |species == Fruitfly; gene == GluCl&agr;; score == 235; expect == 2.6e-62; MEOW:FBgn0024963 (35%) |species == Zfish; gene == glra4b; score == 227; expect == 4.7e-61; MEOW:ZFgn0002513 (43%) |species == Worm; gene == F11H8.2; score == 225; expect == 3.1e-59; MEOW:CEgn0008248 (33%) |species == Worm; gene == avr-15; score == 222; expect == 2.0e-58; MEOW:CEgn0000098 (34%) |species == Worm; gene == unc-49; score == 221; expect == 4.5e-58; MEOW:CEgn0002935 (39%) |species == Fruitfly; gene == Rdl; score == 221; expect == 2.9e-58; MEOW:FBgn0004244 (39%) |species == Worm; gene == avr-14; score == 216; expect == 1.9e-56; MEOW:CEgn0022736 (38%) |species == Worm; gene == glc-3; score == 206; expect == 1.5e-53; MEOW:CEgn0000756 (37%) |species == Worm; gene == glc-1; score == 205; expect == 2.6e-53; MEOW:CEgn0000754 (32%) } # EOR GENR { RETE|ID 1 HUgn0002555 CHR 1 4 DID 1 LocusLink:2555 MAP 1 4p12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 2 ORG 1 Homo sapiens SYM 1 GABRA2 ID|HUgn0002555 DID|LocusLink:2555 ORG|Homo sapiens RSQ|REFSEQ:NM_000807 RPA|REFPROT:NP_000798 DBA|XM:NM_000807 |NA:AK125179 |NA:BC022488 |NA:S62907 |NA:none PAC|XP:NP_000798 SYM|GABRA2 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 2 FNC|gamma-aminobutyric acid A receptor, alpha 2 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |regulation of neurotransmitter levels ; GO:0001505 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=91343 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2555[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119967 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000807 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000807 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=91343 DBL|UNIGENE:Hs.91343 |OMIM:137140 |SNP:2555 MAP|4p12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |benzodiazepine receptor activity ; GO:0008503 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabra2; score == 817; expect == 0.0; MEOW:MGgn0004518 (97%) |species == rat; score == 789; expect == 0.0; MEOW:ref|XP_223378.2| (97%) |species == rat; score == 648; expect == 0.0; MEOW:ref|XP_220350.2| (81%) |species == Human; gene == GABRA1; score == 642; expect == 0.0; MEOW:HUgn0002554 (80%) |species == rat; score == 640; expect == 0.0; MEOW:ref|NP_058991.1| (74%) |species == Human; gene == GABRA5; score == 633; expect == 0.0; MEOW:HUgn0002558 (76%) |species == Human; gene == GABRA3; score == 632; expect == 0.0; MEOW:HUgn0002556 (74%) |species == Mosquito; gene == LOC17339; score == 302; expect == 1.2e-82; MEOW:AGgn0017339 (48%) |species == Zfish; gene == glra3; score == 276; expect == 1.7e-74; MEOW:ZFgn0002512 (40%) |species == Zfish; gene == glra1; score == 263; expect == 7.7e-72; MEOW:ZFgn0000643 (37%) |species == Fruitfly; gene == Lcch3; score == 257; expect == 4.8e-69; MEOW:FBgn0010240 (39%) |species == Mosquito; score == 256; expect == 1.0e-68; MEOW:AGgn0017404 (38%) |species == Zfish; gene == glra4a; score == 256; expect == 7.2e-70; MEOW:ZFgn0002134 (37%) |species == Worm; gene == gab-1; score == 255; expect == 3.6e-68; MEOW:CEgn0030056 (42%) |species == Fruitfly; gene == GluCl&agr;; score == 253; expect == 1.5e-67; MEOW:FBgn0024963 (36%) |species == Mosquito; gene == LOC15782; score == 248; expect == 5.0e-66; MEOW:AGgn0015782 (36%) |species == Mosquito; gene == LOC9685; score == 246; expect == 1.5e-65; MEOW:AGgn0009685 (36%) |species == Zfish; gene == glra4b; score == 242; expect == 1.4e-65; MEOW:ZFgn0002513 (35%) |species == Worm; gene == avr-15; score == 240; expect == 7.1e-64; MEOW:CEgn0000098 (35%) |species == Worm; gene == unc-49; score == 238; expect == 4.6e-63; MEOW:CEgn0002935 (38%) |species == Worm; gene == F11H8.2; score == 235; expect == 2.3e-62; MEOW:CEgn0008248 (34%) |species == Worm; gene == avr-14; score == 233; expect == 8.7e-62; MEOW:CEgn0022736 (33%) |species == Fruitfly; gene == Rdl; score == 232; expect == 2.1e-61; MEOW:FBgn0004244 (39%) |species == Worm; gene == glc-1; score == 226; expect == 1.4e-59; MEOW:CEgn0000754 (32%) |species == Worm; gene == glc-3; score == 220; expect == 9.9e-58; MEOW:CEgn0000756 (38%) } # EOR GENR { RETE|ID 1 HUgn0002556 CHR 1 X DID 1 LocusLink:2556 MAP 1 Xq28 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 3 ORG 1 Homo sapiens SYM 1 GABRA3 ID|HUgn0002556 DID|LocusLink:2556 ORG|Homo sapiens RSQ|REFSEQ:NM_000808 RPA|REFPROT:NP_000799 DBA|XM:NM_000808 |NA:BC028629 |NA:S62908 |NA:none PAC|XP:NP_000799 SYM|GABRA3 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 3 SYN|MGC33793 FNC|gamma-aminobutyric acid A receptor, alpha 3 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified CHR|X PRD|gamma-animobutyric acid (GABA) A receptor, alpha 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123024 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2556[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119968 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000808 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000808 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=123024 DBL|UNIGENE:Hs.123024 |OMIM:305660 |SNP:2556 |IXDB:525501 MAP|Xq28 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |benzodiazepine receptor activity ; GO:0008503 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 924; expect == 0.0; MEOW:ref|NP_058765.1| (95%) |species == Mouse; gene == Gabra3; score == 918; expect == 0.0; MEOW:MGgn0004519 (94%) |species == Human; gene == GABRA5; score == 636; expect == 0.0; MEOW:HUgn0002558 (72%) |species == Human; gene == GABRA2; score == 632; expect == 0.0; MEOW:HUgn0002555 (74%) |species == Human; gene == GABRA1; score == 622; expect == 2e-178; MEOW:HUgn0002554 (73%) |species == Human; gene == GABRA6; score == 511; expect == 3e-145; MEOW:HUgn0002559 (61%) |species == Mosquito; gene == LOC17339; score == 293; expect == 8.3e-80; MEOW:AGgn0017339 (45%) |species == Mosquito; score == 266; expect == 1.1e-71; MEOW:AGgn0017404 (34%) |species == Fruitfly; gene == Lcch3; score == 266; expect == 1.5e-71; MEOW:FBgn0010240 (35%) |species == Zfish; gene == glra1; score == 265; expect == 1.7e-72; MEOW:ZFgn0000643 (35%) |species == Zfish; gene == glra3; score == 265; expect == 2.9e-72; MEOW:ZFgn0002512 (36%) |species == Zfish; gene == glra4a; score == 262; expect == 1.9e-71; MEOW:ZFgn0002134 (36%) |species == Fruitfly; gene == GluCl&agr;; score == 251; expect == 7.6e-67; MEOW:FBgn0024963 (36%) |species == Worm; gene == gab-1; score == 248; expect == 3.8e-66; MEOW:CEgn0030056 (41%) |species == Mosquito; gene == LOC15782; score == 247; expect == 8.5e-66; MEOW:AGgn0015782 (36%) |species == Zfish; gene == glra4b; score == 247; expect == 6.3e-67; MEOW:ZFgn0002513 (35%) |species == Mosquito; gene == LOC9685; score == 246; expect == 2.5e-65; MEOW:AGgn0009685 (36%) |species == Mosquito; gene == LOC22957; score == 240; expect == 8.4e-64; MEOW:AGgn0022957 (41%) |species == Worm; gene == F11H8.2; score == 235; expect == 4.3e-62; MEOW:CEgn0008248 (34%) |species == Worm; gene == avr-14; score == 235; expect == 4.3e-62; MEOW:CEgn0022736 (33%) |species == Fruitfly; gene == Rdl; score == 231; expect == 4.1e-61; MEOW:FBgn0004244 (40%) |species == Worm; gene == avr-15; score == 229; expect == 1.4e-60; MEOW:CEgn0000098 (33%) |species == Worm; gene == unc-49; score == 229; expect == 2.4e-60; MEOW:CEgn0002935 (38%) |species == Worm; gene == glc-1; score == 221; expect == 4.9e-58; MEOW:CEgn0000754 (32%) |species == Zfish; gene == glrb; score == 214; expect == 5.9e-57; MEOW:ZFgn0002211 (28%) |species == Worm; gene == glc-3; score == 211; expect == 5.1e-55; MEOW:CEgn0000756 (38%) } # EOR GENR { RETE|ID 1 HUgn0002557 CHR 1 4 DID 1 LocusLink:2557 MAP 1 4p12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 4 ORG 1 Homo sapiens SYM 1 GABRA4 ID|HUgn0002557 DID|LocusLink:2557 ORG|Homo sapiens RSQ|REFSEQ:NM_000809 RPA|REFPROT:NP_000800 DBA|XM:NM_000809 |NA:U20166 |NA:AF238869 |NA:AK090780 |NA:BC035055 |NA:BC036474 |NA:BC037926 |NA:BC042117 |NA:BI599812 |NA:U30461 |NA:none PAC|XP:NP_000800 SYM|GABRA4 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 4 FNC|gamma-aminobutyric acid A receptor, alpha 4 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=248112 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2557[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:370881 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000809 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000809 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=248112 DBL|UNIGENE:Hs.248112 |OMIM:137141 |SNP:2557 MAP|4p12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |benzodiazepine receptor activity ; GO:0008503 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabra4; score == 895; expect == 0.0; MEOW:MGgn0004520 (89%) |species == rat; score == 884; expect == 0.0; MEOW:ref|NP_542154.1| (88%) |species == Human; gene == GABRA6; score == 554; expect == 5e-158; MEOW:HUgn0002559 (82%) |species == Human; gene == GABRA3; score == 488; expect == 2e-138; MEOW:HUgn0002556 (73%) |species == Human; gene == GABRA1; score == 479; expect == 1e-135; MEOW:HUgn0002554 (70%) |species == Human; gene == GABRA5; score == 478; expect == 4e-135; MEOW:HUgn0002558 (74%) |species == Human; gene == GABRA2; score == 475; expect == 2e-134; MEOW:HUgn0002555 (75%) |species == Mosquito; gene == LOC17339; score == 290; expect == 8.1e-79; MEOW:AGgn0017339 (40%) |species == Worm; gene == gab-1; score == 269; expect == 2.4e-72; MEOW:CEgn0030056 (33%) |species == Mosquito; gene == LOC22957; score == 265; expect == 2.1e-71; MEOW:AGgn0022957 (32%) |species == Mosquito; score == 264; expect == 6.2e-71; MEOW:AGgn0005863 (32%) |species == Mosquito; gene == LOC24940; score == 264; expect == 4.8e-71; MEOW:AGgn0024940 (32%) |species == Zfish; gene == glra3; score == 259; expect == 1.4e-70; MEOW:ZFgn0002512 (39%) |species == Fruitfly; gene == Lcch3; score == 250; expect == 9.7e-67; MEOW:FBgn0010240 (40%) |species == Zfish; gene == glra1; score == 250; expect == 1.1e-67; MEOW:ZFgn0000643 (42%) |species == Mosquito; score == 248; expect == 3.5e-66; MEOW:AGgn0017404 (38%) |species == Zfish; gene == glra4a; score == 248; expect == 3.2e-67; MEOW:ZFgn0002134 (43%) |species == Fruitfly; gene == Rdl; score == 243; expect == 1.2e-64; MEOW:FBgn0004244 (40%) |species == Zfish; gene == glra4b; score == 234; expect == 4.8e-63; MEOW:ZFgn0002513 (43%) |species == Worm; gene == F11H8.2; score == 226; expect == 1.4e-59; MEOW:CEgn0008248 (37%) |species == Worm; gene == avr-15; score == 225; expect == 3.9e-59; MEOW:CEgn0000098 (38%) |species == Fruitfly; gene == GluCl&agr;; score == 224; expect == 5.7e-59; MEOW:FBgn0024963 (36%) |species == Worm; gene == unc-49; score == 218; expect == 4.8e-57; MEOW:CEgn0002935 (35%) |species == Worm; gene == avr-14; score == 216; expect == 1.4e-56; MEOW:CEgn0022736 (38%) |species == Fruitfly; gene == Grd; score == 202; expect == 5.1e-52; MEOW:FBgn0001134 (50%) } # EOR GENR { RETE|ID 1 HUgn0002558 CHR 1 15 DID 1 LocusLink:2558 MAP 1 15q11.2-q12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 5 ORG 1 Homo sapiens SYM 1 GABRA5 ID|HUgn0002558 DID|LocusLink:2558 ORG|Homo sapiens RSQ|REFSEQ:NM_000810 RPA|REFPROT:NP_000801 DBA|XM:NM_000810 |NA:AF061785 |NA:BC011403 |NA:BT009830 |NA:L08485 |NA:none PAC|XP:NP_000801 SYM|GABRA5 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 5 FNC|gamma-aminobutyric acid (GABA) A receptor, alpha 5 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified. Transcript variants utilizing three different alternative non-coding |first exons have been described. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=24969 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2558[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132415 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000810 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000810 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=24969 DBL|UNIGENE:Hs.24969 |OMIM:137142 |SNP:2558 MAP|15q11.2-q12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |transporter activity ; GO:0005215 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 848; expect == 0.0; MEOW:ref|NP_058991.1| (92%) |species == Mouse; gene == Gabra5; score == 842; expect == 0.0; MEOW:MGgn0004521 (93%) |species == Human; gene == GABRA3; score == 636; expect == 0.0; MEOW:HUgn0002556 (72%) |species == Human; gene == GABRA2; score == 633; expect == 0.0; MEOW:HUgn0002555 (76%) |species == Human; gene == GABRA1; score == 613; expect == 8e-176; MEOW:HUgn0002554 (74%) |species == Mosquito; gene == LOC17339; score == 297; expect == 4.1e-81; MEOW:AGgn0017339 (46%) |species == Zfish; gene == glra3; score == 262; expect == 1.8e-71; MEOW:ZFgn0002512 (36%) |species == Zfish; gene == glra1; score == 258; expect == 3.3e-70; MEOW:ZFgn0000643 (35%) |species == Worm; gene == gab-1; score == 255; expect == 3.7e-68; MEOW:CEgn0030056 (38%) |species == Fruitfly; gene == GluCl&agr;; score == 255; expect == 3.1e-68; MEOW:FBgn0024963 (35%) |species == Fruitfly; gene == Lcch3; score == 251; expect == 3.5e-67; MEOW:FBgn0010240 (41%) |species == Mosquito; score == 249; expect == 1.3e-66; MEOW:AGgn0017404 (40%) |species == Zfish; gene == glra4a; score == 249; expect == 1.5e-67; MEOW:ZFgn0002134 (36%) |species == Mosquito; gene == LOC15782; score == 247; expect == 1.1e-65; MEOW:AGgn0015782 (34%) |species == Mosquito; gene == LOC9685; score == 246; expect == 1.9e-65; MEOW:AGgn0009685 (35%) |species == Mosquito; gene == LOC22957; score == 241; expect == 4.5e-64; MEOW:AGgn0022957 (41%) |species == Mosquito; score == 239; expect == 1.7e-63; MEOW:AGgn0005863 (40%) |species == Mosquito; gene == LOC24940; score == 239; expect == 1.3e-63; MEOW:AGgn0024940 (39%) |species == Worm; gene == F11H8.2; score == 236; expect == 1.8e-62; MEOW:CEgn0008248 (35%) |species == Fruitfly; gene == Rdl; score == 236; expect == 1.5e-62; MEOW:FBgn0004244 (39%) |species == Worm; gene == unc-49; score == 235; expect == 3.1e-62; MEOW:CEgn0002935 (37%) |species == Worm; gene == avr-15; score == 233; expect == 1.5e-61; MEOW:CEgn0000098 (34%) |species == Zfish; gene == glra4b; score == 233; expect == 1.1e-62; MEOW:ZFgn0002513 (42%) |species == Worm; gene == avr-14; score == 224; expect == 7.1e-59; MEOW:CEgn0022736 (34%) |species == Worm; gene == glc-1; score == 216; expect == 1.1e-56; MEOW:CEgn0000754 (32%) |species == Worm; gene == glc-3; score == 205; expect == 3.4e-53; MEOW:CEgn0000756 (36%) } # EOR GENR { RETE|ID 1 HUgn0002559 CHR 1 5 DID 1 LocusLink:2559 MAP 1 5q34 NAM 1 gamma-aminobutyric acid (GABA) A receptor, alpha 6 ORG 1 Homo sapiens SYM 1 GABRA6 ID|HUgn0002559 DID|LocusLink:2559 ORG|Homo sapiens RSQ|REFSEQ:NM_000811 RPA|REFPROT:NP_000802 DBA|XM:NM_000811 |NA:AK090735 |NA:S81944 |NA:none PAC|XP:NP_000802 SYM|GABRA6 NAM|gamma-aminobutyric acid (GABA) A receptor, alpha 6 FNC|gamma-aminobutyric acid A receptor, alpha 6 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance |of these channels can be modulated by agents such as benzodiazepines that bind to |the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been |identified. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90791 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2559[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:330753 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000811 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000811 DBL|UNIGENE:Hs.90791 |OMIM:137143 |SNP:2559 MAP|5q34 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |benzodiazepine receptor activity ; GO:0008503 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 776; expect == 0.0; MEOW:ref|NP_068613.1| (91%) |species == Mouse; gene == Gabra6; score == 751; expect == 0.0; MEOW:MGgn0004522 (89%) |species == Human; gene == GABRA4; score == 554; expect == 5e-158; MEOW:HUgn0002557 (82%) |species == Human; gene == GABRA3; score == 511; expect == 3e-145; MEOW:HUgn0002556 (61%) |species == Human; gene == GABRA5; score == 499; expect == 1e-141; MEOW:HUgn0002558 (61%) |species == Human; gene == GABRA2; score == 489; expect == 1e-138; MEOW:HUgn0002555 (60%) |species == Human; gene == GABRA1; score == 476; expect == 9e-135; MEOW:HUgn0002554 (61%) |species == Mosquito; gene == LOC17339; score == 297; expect == 4.0e-81; MEOW:AGgn0017339 (48%) |species == Zfish; gene == glra3; score == 272; expect == 1.7e-74; MEOW:ZFgn0002512 (37%) |species == Fruitfly; gene == Lcch3; score == 268; expect == 2.7e-72; MEOW:FBgn0010240 (34%) |species == Zfish; gene == glra1; score == 265; expect == 2.6e-72; MEOW:ZFgn0000643 (37%) |species == Zfish; gene == glra4a; score == 265; expect == 1.6e-72; MEOW:ZFgn0002134 (37%) |species == Mosquito; score == 264; expect == 3.7e-71; MEOW:AGgn0017404 (34%) |species == Worm; gene == gab-1; score == 256; expect == 9.6e-69; MEOW:CEgn0030056 (42%) |species == Mosquito; score == 250; expect == 9.5e-67; MEOW:AGgn0005863 (40%) |species == Mosquito; gene == LOC24940; score == 250; expect == 7.3e-67; MEOW:AGgn0024940 (39%) |species == Fruitfly; gene == GluCl&agr;; score == 250; expect == 1.7e-66; MEOW:FBgn0024963 (35%) |species == Mosquito; gene == LOC22957; score == 249; expect == 1.6e-66; MEOW:AGgn0022957 (40%) |species == Mosquito; gene == LOC9685; score == 243; expect == 1.2e-64; MEOW:AGgn0009685 (34%) |species == Mosquito; gene == LOC15782; score == 243; expect == 6.8e-65; MEOW:AGgn0015782 (34%) |species == Fruitfly; gene == Rdl; score == 243; expect == 7.1e-65; MEOW:FBgn0004244 (40%) |species == Zfish; gene == glra4b; score == 242; expect == 1.4e-65; MEOW:ZFgn0002513 (36%) |species == Worm; gene == F11H8.2; score == 236; expect == 1.8e-62; MEOW:CEgn0008248 (36%) |species == Worm; gene == avr-14; score == 233; expect == 1.5e-61; MEOW:CEgn0022736 (35%) |species == Worm; gene == avr-15; score == 227; expect == 8.1e-60; MEOW:CEgn0000098 (34%) |species == Worm; gene == unc-49; score == 221; expect == 4.5e-58; MEOW:CEgn0002935 (37%) |species == Worm; gene == glc-3; score == 219; expect == 1.7e-57; MEOW:CEgn0000756 (31%) |species == Worm; gene == glc-1; score == 215; expect == 3.2e-56; MEOW:CEgn0000754 (33%) |species == Worm; gene == glc-2; score == 206; expect == 1.9e-53; MEOW:CEgn0000755 (31%) } # EOR GENR { RETE|ID 1 HUgn0002560 CHR 1 4 DID 1 LocusLink:2560 MAP 1 4p12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, beta 1 ORG 1 Homo sapiens SYM 1 GABRB1 ID|HUgn0002560 DID|LocusLink:2560 ORG|Homo sapiens RSQ|REFSEQ:NM_000812 RPA|REFPROT:NP_000803 DBA|XM:NM_000812 |NA:AF285168 |NA:M59216 |NA:BC022449 |NA:S70733 |NA:X14767 |NA:none PAC|XP:NP_000803 SYM|GABRB1 NAM|gamma-aminobutyric acid (GABA) A receptor, beta 1 FNC|gamma-aminobutyric acid (GABA) A receptor, beta 1 precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel |that mediates the fastest inhibitory synaptic transmission in the central nervous |system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome |4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits |of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics |of schizophrenia. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89768 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2560[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119969 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000812 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000812 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89768 DBL|UNIGENE:Hs.89768 |OMIM:137190 |SNP:2560 MAP|4p12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 924; expect == 0.0; MEOW:ref|NP_037088.1| (98%) |species == Mouse; gene == Gabrb1; score == 922; expect == 0.0; MEOW:MGgn0004523 (97%) |species == Human; gene == GABRB2; score == 740; expect == 0.0; MEOW:HUgn0002561 (78%) |species == Mouse; gene == Gabrb2; score == 740; expect == 0.0; MEOW:MGgn0004524 (78%) |species == rat; score == 740; expect == 0.0; MEOW:ref|NP_037089.1| (78%) |species == Human; gene == GABRB3; score == 723; expect == 0.0; MEOW:HUgn0002562 (76%) |species == Fruitfly; gene == Lcch3; score == 411; expect == 3e-115; MEOW:FBgn0010240 (46%) |species == Mosquito; score == 409; expect == 1e-114; MEOW:AGgn0017404 (49%) |species == Worm; gene == gab-1; score == 347; expect == 7.5e-96; MEOW:CEgn0030056 (44%) |species == Zfish; gene == glra4a; score == 274; expect == 8.5e-74; MEOW:ZFgn0002134 (45%) |species == Zfish; gene == glra1; score == 266; expect == 2.2e-71; MEOW:ZFgn0000643 (45%) |species == Zfish; gene == glra3; score == 265; expect == 2.1e-72; MEOW:ZFgn0002512 (37%) |species == Zfish; gene == glrb; score == 254; expect == 3.8e-69; MEOW:ZFgn0002211 (35%) |species == Zfish; gene == glra4b; score == 248; expect == 2.1e-67; MEOW:ZFgn0002513 (38%) } # EOR GENR { RETE|ID 1 HUgn0002561 CHR 1 5 DID 1 LocusLink:2561 MAP 1 5q34 NAM 1 gamma-aminobutyric acid (GABA) A receptor, beta 2 ORG 1 Homo sapiens SYM 1 GABRB2 ID|HUgn0002561 DID|LocusLink:2561 ORG|Homo sapiens RSQ|REFSEQ:NM_000813 |REFSEQ:NM_021911 RPA|REFPROT:NP_000804 |REFPROT:NP_068711 DBA|XM:NM_000813 |XM:NM_021911 |NA:S67368 |NA:S77553 |NA:S77554 |NA:none PAC|XP:NP_000804 |XP:NP_068711 SYM|GABRB2 NAM|gamma-aminobutyric acid (GABA) A receptor, beta 2 FNC|gamma-aminobutyric acid (GABA) A receptor, beta 2 isoform 1 |gamma-aminobutyric acid (GABA) A receptor, beta 2 isoform 2 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel |that mediates the fastest inhibitory synaptic transmission in the central nervous |system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome |5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the |GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, |differing by a 114 bp insertion. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=103998 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2561[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:335182 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021911 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021911 DBL|UNIGENE:Hs.103998 |OMIM:600232 |SNP:2561 MAP|5q34 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabrb2; score == 905; expect == 0.0; MEOW:MGgn0004524 (99%) |species == rat; score == 905; expect == 0.0; MEOW:ref|NP_037089.1| (99%) |species == Human; gene == GABRB3; score == 750; expect == 0.0; MEOW:HUgn0002562 (79%) |species == Mouse; gene == Gabrb3; score == 746; expect == 0.0; MEOW:MGgn0004525 (78%) |species == rat; score == 746; expect == 0.0; MEOW:ref|NP_058761.1| (78%) |species == Mouse; gene == Gabrb1; score == 745; expect == 0.0; MEOW:MGgn0004523 (79%) |species == rat; score == 743; expect == 0.0; MEOW:ref|NP_037088.1| (79%) |species == Human; gene == GABRB1; score == 740; expect == 0.0; MEOW:HUgn0002560 (78%) |species == Mosquito; score == 401; expect == 2e-112; MEOW:AGgn0017404 (47%) |species == Fruitfly; gene == Lcch3; score == 401; expect == 3e-112; MEOW:FBgn0010240 (48%) |species == Worm; gene == gab-1; score == 323; expect == 1.2e-88; MEOW:CEgn0030056 (40%) |species == Zfish; gene == glra4a; score == 276; expect == 1.3e-74; MEOW:ZFgn0002134 (44%) |species == Zfish; gene == glra1; score == 273; expect == 1.4e-73; MEOW:ZFgn0000643 (38%) |species == Zfish; gene == glra3; score == 270; expect == 6.7e-74; MEOW:ZFgn0002512 (37%) |species == Zfish; gene == glra4b; score == 243; expect == 1.1e-65; MEOW:ZFgn0002513 (37%) |species == Zfish; gene == glrb; score == 229; expect == 1.0e-61; MEOW:ZFgn0002211 (34%) } # EOR GENR { RETE|ID 1 HUgn0002562 CHR 1 15 DID 1 LocusLink:2562 MAP 1 15q11.2-q12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, beta 3 ORG 1 Homo sapiens SYM 1 GABRB3 ID|HUgn0002562 DID|LocusLink:2562 ORG|Homo sapiens RSQ|REFSEQ:NM_000814 |REFSEQ:NM_021912 RPA|REFPROT:NP_000805 |REFPROT:NP_068712 DBA|XM:NM_000814 |XM:NM_021912 |NA:L04311 |NA:BC010641 |NA:BC038837 |NA:BC047549 |NA:M82919 |NA:none PAC|XP:NP_000805 |XP:NP_068712 SYM|GABRB3 NAM|gamma-aminobutyric acid (GABA) A receptor, beta 3 SYN|MGC9051 FNC|gamma-aminobutyric acid (GABA) A receptor, beta 3 isoform 1 precursor |gamma-aminobutyric acid (GABA) A receptor, beta 3 isoform 2 precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel |that mediates the fastest inhibitory synaptic transmission in the central nervous |system. This gene is mapped to chromosome 15q11.2-q12 in a cluster that includes |the alpha 5, and gamma 3 subunit genes of the GABA receptor. Alternative splicing |generates 2 transcript variants. Deletion mutation of this gene may be involved |in the pathogenesis of Angelman syndrome and Prader-Willi syndrome. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=302352 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2562[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127549 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000814 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000814 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=302352 DBL|UNIGENE:Hs.302352 |OMIM:137192 |SNP:2562 MAP|15q11.2-q12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabrb3; score == 922; expect == 0.0; MEOW:MGgn0004525 (97%) |species == rat; score == 921; expect == 0.0; MEOW:ref|NP_058761.1| (97%) |species == Human; gene == GABRB2; score == 750; expect == 0.0; MEOW:HUgn0002561 (79%) |species == Mouse; gene == Gabrb2; score == 750; expect == 0.0; MEOW:MGgn0004524 (79%) |species == rat; score == 750; expect == 0.0; MEOW:ref|NP_037089.1| (79%) |species == Human; gene == GABRB1; score == 723; expect == 0.0; MEOW:HUgn0002560 (76%) |species == Fruitfly; gene == Lcch3; score == 412; expect == 9e-116; MEOW:FBgn0010240 (47%) |species == Mosquito; score == 411; expect == 3e-115; MEOW:AGgn0017404 (47%) |species == Worm; gene == gab-1; score == 349; expect == 1.5e-96; MEOW:CEgn0030056 (44%) |species == Zfish; gene == glra4a; score == 276; expect == 1.3e-74; MEOW:ZFgn0002134 (47%) |species == Zfish; gene == glra1; score == 269; expect == 1.5e-73; MEOW:ZFgn0000643 (38%) |species == Zfish; gene == glra3; score == 263; expect == 6.2e-72; MEOW:ZFgn0002512 (37%) |species == Zfish; gene == glra4b; score == 251; expect == 2.4e-68; MEOW:ZFgn0002513 (37%) |species == Zfish; gene == glrb; score == 249; expect == 1.6e-67; MEOW:ZFgn0002211 (34%) } # EOR GENR { RETE|ID 1 HUgn0002563 CHR 1 1 DID 1 LocusLink:2563 MAP 1 1p NAM 1 gamma-aminobutyric acid (GABA) A receptor, delta ORG 1 Homo sapiens SYM 1 GABRD ID|HUgn0002563 DID|LocusLink:2563 ORG|Homo sapiens RSQ|REFSEQ:NM_000815 RPA|REFPROT:NP_000806 DBA|XM:NM_000815 |NA:AF016917 |NA:AI936907 |NA:BC033801 |NA:BI824761 |NA:none PAC|XP:NP_000806 SYM|GABRD NAM|gamma-aminobutyric acid (GABA) A receptor, delta SYN|MGC45284 FNC|gamma-aminobutyric acid (GABA) A receptor, delta |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian |brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. |Chloride conductance of these channels can be modulated by agents such as benzodiazepines |that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and |there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene |encodes the delta subunit. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113882 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2563[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127956 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000815 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000815 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=113882 DBL|UNIGENE:Hs.113882 |OMIM:137163 |SNP:2563 MAP|1p ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_058985.1| (93%) |species == Mouse; gene == Gabrd; score == 758; expect == 0.0; MEOW:MGgn0004526 (93%) |species == Human; gene == GABRB1; score == 328; expect == 5.2e-90; MEOW:HUgn0002560 (41%) |species == Human; gene == GABRB3; score == 321; expect == 4.9e-88; MEOW:HUgn0002562 (41%) |species == Human; gene == GABRP; score == 320; expect == 1.3e-87; MEOW:HUgn0002568 (41%) |species == Human; gene == GABRB2; score == 318; expect == 4.1e-87; MEOW:HUgn0002561 (41%) |species == Human; gene == GABRR1; score == 297; expect == 1.3e-80; MEOW:HUgn0002569 (38%) |species == Fruitfly; gene == Lcch3; score == 280; expect == 5.3e-76; MEOW:FBgn0010240 (46%) |species == Mosquito; score == 278; expect == 2.5e-75; MEOW:AGgn0017404 (44%) |species == Zfish; gene == glra4a; score == 278; expect == 5.9e-75; MEOW:ZFgn0002134 (38%) |species == Human; gene == GABRR2; score == 276; expect == 2.2e-74; MEOW:HUgn0002570 (36%) |species == Human; gene == GLRA3; score == 273; expect == 1.9e-73; MEOW:HUgn0008001 (37%) |species == Human; gene == GABRQ; score == 268; expect == 3.5e-72; MEOW:HUgn0055879 (42%) |species == Zfish; gene == glra1; score == 268; expect == 4.5e-72; MEOW:ZFgn0000643 (37%) |species == Human; gene == GLRA1; score == 266; expect == 2.3e-71; MEOW:HUgn0002741 (37%) |species == Zfish; gene == glra3; score == 266; expect == 2.3e-71; MEOW:ZFgn0002512 (37%) |species == Human; gene == LOC200959; score == 265; expect == 4.8e-71; MEOW:HUgn0200959 (34%) |species == Worm; gene == gab-1; score == 260; expect == 1.1e-69; MEOW:CEgn0030056 (42%) |species == Mosquito; gene == LOC24940; score == 241; expect == 3.4e-64; MEOW:AGgn0024940 (41%) |species == Mosquito; score == 240; expect == 5.8e-64; MEOW:AGgn0005863 (41%) |species == Zfish; gene == glra4b; score == 239; expect == 1.2e-64; MEOW:ZFgn0002513 (44%) |species == Mosquito; gene == LOC22957; score == 238; expect == 2.9e-63; MEOW:AGgn0022957 (41%) |species == Fruitfly; gene == Rdl; score == 238; expect == 3.9e-63; MEOW:FBgn0004244 (40%) |species == Worm; gene == F11H8.2; score == 217; expect == 6.4e-57; MEOW:CEgn0008248 (34%) |species == Worm; gene == unc-49; score == 214; expect == 7.1e-56; MEOW:CEgn0002935 (38%) } # EOR GENR { RETE|ID 1 HUgn0002564 CHR 1 X DID 1 LocusLink:2564 MAP 1 Xq28 NAM 1 gamma-aminobutyric acid (GABA) A receptor, epsilon ORG 1 Homo sapiens SYM 1 GABRE ID|HUgn0002564 DID|LocusLink:2564 ORG|Homo sapiens RSQ|REFSEQ:NM_004961 |REFSEQ:NM_021984 |REFSEQ:NM_021987 |REFSEQ:NM_021990 RPA|REFPROT:NP_004952 |REFPROT:NP_068819 |REFPROT:NP_068822 |REFPROT:NP_068830 DBA|XM:NM_004961 |XM:NM_021984 |XM:NM_021987 |XM:NM_021990 |NA:U92283 |NA:Y09763 |NA:Y09764 |NA:BC059376 |NA:U66661 |NA:U92285 |NA:Y07637 |NA:Y09765 |NA:none PAC|XP:NP_004952 |XP:NP_068819 |XP:NP_068822 |XP:NP_068830 SYM|GABRE NAM|gamma-aminobutyric acid (GABA) A receptor, epsilon FNC|gamma-aminobutyric acid (GABA) A receptor, epsilon isoform 1 precursor |gamma-aminobutyric acid (GABA) A receptor, epsilon isoform 2 |gamma-aminobutyric acid (GABA) A receptor, epsilon isoform 3 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel |that mediates the fastest inhibitory synaptic transmission in the central nervous |system. This gene encodes GABA A receptor, epsilon subunit. It is mapped to chromosome |Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits |of the same receptor. This gene location is also the candidate region for 2 different |neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental |retardation (MRX3). Alternative splicing of this gene yields an unusually complex |variety of mRNA variants. All variants but one encode N- and/or C-terminal truncated |proteins and the full length nature of most variants has not been determined. CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=22785 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2564[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5892179 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021990 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021990 DBL|UNIGENE:Hs.22785 |OMIM:300093 |SNP:2564 MAP|Xq28 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 623; expect == 2e-178; MEOW:ref|NP_075579.1| (71%) |species == Mouse; gene == Gabre; score == 620; expect == 1e-177; MEOW:MGgn0004527 (70%) |species == Human; gene == GABRG3; score == 381; expect == 4e-106; MEOW:HUgn0002567 (46%) |species == Human; gene == GABRG2; score == 374; expect == 9e-104; MEOW:HUgn0002566 (42%) |species == Human; gene == GABRG1; score == 373; expect == 1e-103; MEOW:HUgn0002565 (43%) |species == Human; gene == GABRA6; score == 308; expect == 4.0e-84; MEOW:HUgn0002559 (38%) |species == Worm; gene == gab-1; score == 248; expect == 3.0e-66; MEOW:CEgn0030056 (39%) |species == Mosquito; gene == LOC17339; score == 238; expect == 3.3e-63; MEOW:AGgn0017339 (39%) |species == Zfish; gene == glra3; score == 225; expect == 2.0e-60; MEOW:ZFgn0002512 (40%) |species == Fruitfly; gene == Lcch3; score == 223; expect == 8.8e-59; MEOW:FBgn0010240 (35%) |species == Mosquito; score == 221; expect == 4.2e-58; MEOW:AGgn0017404 (34%) |species == Zfish; gene == glra1; score == 216; expect == 1.2e-57; MEOW:ZFgn0000643 (39%) |species == Zfish; gene == glra4a; score == 212; expect == 1.8e-56; MEOW:ZFgn0002134 (38%) |species == Mosquito; gene == LOC22957; score == 208; expect == 2.8e-54; MEOW:AGgn0022957 (34%) |species == Mosquito; gene == LOC24940; score == 206; expect == 1.4e-53; MEOW:AGgn0024940 (34%) |species == Mosquito; score == 204; expect == 6.9e-53; MEOW:AGgn0005863 (34%) |species == Zfish; gene == glra4b; score == 204; expect == 6.3e-54; MEOW:ZFgn0002513 (38%) |species == Fruitfly; gene == Rdl; score == 203; expect == 9.4e-53; MEOW:FBgn0004244 (33%) |species == Worm; gene == avr-15; score == 201; expect == 5.5e-52; MEOW:CEgn0000098 (33%) |species == Mosquito; gene == LOC20108; score == 193; expect == 1.6e-49; MEOW:AGgn0020108 (33%) |species == Fruitfly; gene == ort; score == 189; expect == 2.4e-48; MEOW:FBgn0003011 (33%) |species == Fruitfly; gene == HisCl1; score == 184; expect == 7.7e-47; MEOW:FBgn0037950 (33%) |species == Fruitfly; gene == GluCl&agr;; score == 183; expect == 1.0e-46; MEOW:FBgn0024963 (33%) } # EOR GENR { RETE|ID 1 HUgn0002565 CHR 1 4 DID 1 LocusLink:2565 MAP 1 4p12 NAM 1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 ORG 1 Homo sapiens SYM 1 GABRG1 ID|HUgn0002565 DID|LocusLink:2565 ORG|Homo sapiens RSQ|REFSEQ:NM_173536 RPA|REFPROT:NP_775807 DBA|XM:NM_173536 |NA:AK122845 |NA:BC031087 |NA:BX648937 |NA:none PAC|XP:NP_775807 SYM|GABRG1 NAM|gamma-aminobutyric acid (GABA) A receptor, gamma 1 SYN|MGC33838 FNC|gamma-aminobutyric acid A receptor, gamma 1 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|The protein encoded by this gene belongs to the ligand-gated ionic channel family. |It is an integral membrane protein and plays an important role in inhibiting neurotransmission |by binding to the benzodiazepine receptor and opening an integral chloride channel. |This gene is clustered with three other family members on chromosome 4. CHR|4 PRD|gamma-1 polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=375051 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2565[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127810 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_173536 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_173536 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=375051 DBL|UNIGENE:Hs.375051 |OMIM:137166 |SNP:2565 MAP|4p12 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 864; expect == 0.0; MEOW:ref|NP_542153.1| (95%) |species == Mouse; gene == Gabrg1; score == 839; expect == 0.0; MEOW:MGgn0004528 (95%) |species == Human; gene == GABRG2; score == 670; expect == 0.0; MEOW:HUgn0002566 (76%) |species == Human; gene == GABRG3; score == 603; expect == 8e-173; MEOW:HUgn0002567 (68%) |species == Mosquito; gene == LOC17339; score == 248; expect == 2.2e-66; MEOW:AGgn0017339 (43%) |species == Mosquito; score == 242; expect == 2.1e-64; MEOW:AGgn0017404 (33%) |species == Zfish; gene == glra3; score == 242; expect == 1.9e-65; MEOW:ZFgn0002512 (37%) |species == Fruitfly; gene == Lcch3; score == 237; expect == 5.3e-63; MEOW:FBgn0010240 (40%) |species == Zfish; gene == glra4a; score == 235; expect == 3.0e-63; MEOW:ZFgn0002134 (37%) |species == Worm; gene == gab-1; score == 233; expect == 9.0e-62; MEOW:CEgn0030056 (39%) |species == Zfish; gene == glra1; score == 233; expect == 1.1e-62; MEOW:ZFgn0000643 (36%) |species == Mosquito; score == 220; expect == 8.3e-58; MEOW:AGgn0005863 (40%) |species == Mosquito; gene == LOC22957; score == 220; expect == 6.4e-58; MEOW:AGgn0022957 (40%) |species == Mosquito; gene == LOC24940; score == 220; expect == 8.3e-58; MEOW:AGgn0024940 (40%) |species == Zfish; gene == glra4b; score == 220; expect == 7.7e-59; MEOW:ZFgn0002513 (35%) |species == Worm; gene == avr-14; score == 217; expect == 1.1e-56; MEOW:CEgn0022736 (31%) |species == Worm; gene == glc-3; score == 216; expect == 1.9e-56; MEOW:CEgn0000756 (31%) |species == Worm; gene == F11H8.2; score == 216; expect == 1.1e-56; MEOW:CEgn0008248 (35%) |species == Fruitfly; gene == Rdl; score == 216; expect == 9.7e-57; MEOW:FBgn0004244 (40%) |species == Fruitfly; gene == GluCl&agr;; score == 212; expect == 1.8e-55; MEOW:FBgn0024963 (32%) |species == Worm; gene == avr-15; score == 209; expect == 2.1e-54; MEOW:CEgn0000098 (30%) |species == Worm; gene == unc-49; score == 207; expect == 6.9e-54; MEOW:CEgn0002935 (38%) |species == Mosquito; gene == LOC15782; score == 205; expect == 2.1e-53; MEOW:AGgn0015782 (33%) |species == Mosquito; gene == LOC9685; score == 201; expect == 5.2e-52; MEOW:AGgn0009685 (33%) |species == Worm; gene == glc-1; score == 199; expect == 1.9e-51; MEOW:CEgn0000754 (32%) |species == Worm; gene == glc-4; score == 196; expect == 2.5e-50; MEOW:CEgn0005525 (32%) } # EOR GENR { RETE|ID 1 HUgn0002566 CHR 1 5 DID 1 LocusLink:2566 MAP 1 5q31.1-q33.1 NAM 1 gamma-aminobutyric acid (GABA) A receptor, gamma 2 ORG 1 Homo sapiens SYM 1 GABRG2 ID|HUgn0002566 DID|LocusLink:2566 ORG|Homo sapiens RSQ|REFSEQ:NM_000816 RPA|REFPROT:NP_000807 DBA|XM:NM_000816 |NA:AF165124 |NA:BC059389 |NA:X15376 |NA:none PAC|XP:NP_000807 SYM|GABRG2 NAM|gamma-aminobutyric acid (GABA) A receptor, gamma 2 SYN|CAE2 |ECA2 |GEFSP3 FNC|gamma-aminobutyric acid A receptor, gamma 2 precursor |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|The gamma-aminobutyric acid (GABA) A receptor, gamma 2 is a major inhibitory neurotransmitter receptor in the brain CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7195 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2566[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125918 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000816 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000816 DBL|UNIGENE:Hs.7195 |OMIM:137164 |SNP:2566 MAP|5q31.1-q33.1 PHP|Epilepsy, childhood absence |Epilepsy, generalized, with febrile seizures plus |Myoclonic epilepsy, severe, of infancy ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |benzodiazepine receptor activity ; GO:0008503 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Gabrg2; score == 893; expect == 0.0; MEOW:MGgn0004529 (97%) |species == rat; score == 834; expect == 0.0; MEOW:ref|XP_220329.2| (96%) |species == Human; gene == GABRG1; score == 670; expect == 0.0; MEOW:HUgn0002565 (76%) |species == Human; gene == GABRG3; score == 617; expect == 6e-177; MEOW:HUgn0002567 (66%) |species == Mosquito; gene == LOC17339; score == 260; expect == 2.6e-69; MEOW:AGgn0017339 (45%) |species == Mosquito; score == 242; expect == 1.6e-64; MEOW:AGgn0017404 (33%) |species == Fruitfly; gene == Rdl; score == 238; expect == 9.5e-63; MEOW:FBgn0004244 (37%) |species == Fruitfly; gene == Lcch3; score == 238; expect == 3.1e-63; MEOW:FBgn0010240 (41%) |species == Zfish; gene == glra3; score == 238; expect == 3.6e-64; MEOW:ZFgn0002512 (38%) |species == Worm; gene == gab-1; score == 237; expect == 8.2e-63; MEOW:CEgn0030056 (38%) |species == Zfish; gene == glra1; score == 236; expect == 8.0e-64; MEOW:ZFgn0000643 (35%) |species == Mosquito; score == 234; expect == 5.6e-62; MEOW:AGgn0005863 (42%) |species == Mosquito; gene == LOC22957; score == 234; expect == 5.6e-62; MEOW:AGgn0022957 (41%) |species == Mosquito; gene == LOC24940; score == 234; expect == 5.6e-62; MEOW:AGgn0024940 (41%) |species == Zfish; gene == glra4a; score == 234; expect == 4.0e-63; MEOW:ZFgn0002134 (36%) |species == Worm; gene == glc-3; score == 214; expect == 7.4e-56; MEOW:CEgn0000756 (31%) |species == Worm; gene == F11H8.2; score == 214; expect == 4.3e-56; MEOW:CEgn0008248 (33%) |species == Worm; gene == avr-14; score == 212; expect == 3.5e-55; MEOW:CEgn0022736 (31%) |species == Zfish; gene == glra4b; score == 211; expect == 3.6e-56; MEOW:ZFgn0002513 (43%) |species == Worm; gene == unc-49; score == 208; expect == 3.1e-54; MEOW:CEgn0002935 (39%) |species == Fruitfly; gene == GluCl&agr;; score == 205; expect == 2.9e-53; MEOW:FBgn0024963 (32%) |species == Worm; gene == avr-15; score == 204; expect == 4.5e-53; MEOW:CEgn0000098 (31%) |species == Worm; gene == glc-1; score == 201; expect == 3.8e-52; MEOW:CEgn0000754 (31%) |species == Worm; gene == glc-4; score == 198; expect == 5.1e-51; MEOW:CEgn0005525 (33%) |species == Fruitfly; gene == HisCl1; score == 196; expect == 1.6e-50; MEOW:FBgn0037950 (31%) |species == Zfish; gene == glrb; score == 192; expect == 1.7e-50; MEOW:ZFgn0002211 (36%) } # EOR GENR { RETE|ID 1 HUgn0002567 CHR 1 15 DID 1 LocusLink:2567 MAP 1 15q11-q13 NAM 1 gamma-aminobutyric acid (GABA) A receptor, gamma 3 ORG 1 Homo sapiens SYM 1 GABRG3 ID|HUgn0002567 DID|LocusLink:2567 ORG|Homo sapiens RSQ|REFSEQ:NM_033223 RPA|REFPROT:NP_150092 DBA|XM:NM_033223 |NA:AF228458 |NA:AF269144 |NA:BC029850 |NA:S82769 |NA:none PAC|XP:NP_150092 SYM|GABRG3 NAM|gamma-aminobutyric acid (GABA) A receptor, gamma 3 FNC|gamma-aminobutyric acid (GABA) A receptor, gamma 3 |chloride transport ; GO:0006821 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104133 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2567[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371033 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033223 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033223 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=104133 DBL|UNIGENE:Hs.104133 |OMIM:600233 |SNP:2567 MAP|15q11-q13 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 880; expect == 0.0; MEOW:ref|NP_077346.2| (95%) |species == Mouse; gene == Gabrg3; score == 877; expect == 0.0; MEOW:MGgn0004530 (95%) |species == Human; gene == GABRG2; score == 617; expect == 6e-177; MEOW:HUgn0002566 (66%) |species == Human; gene == GABRG1; score == 603; expect == 8e-173; MEOW:HUgn0002565 (68%) |species == Mosquito; gene == LOC17339; score == 258; expect == 2.1e-69; MEOW:AGgn0017339 (35%) |species == Worm; gene == gab-1; score == 241; expect == 5.7e-64; MEOW:CEgn0030056 (41%) |species == Mosquito; score == 236; expect == 8.7e-63; MEOW:AGgn0017404 (33%) |species == Fruitfly; gene == Lcch3; score == 228; expect == 4.2e-60; MEOW:FBgn0010240 (40%) |species == Zfish; gene == glra4a; score == 228; expect == 2.2e-61; MEOW:ZFgn0002134 (35%) |species == Zfish; gene == glra3; score == 227; expect == 4.9e-61; MEOW:ZFgn0002512 (45%) |species == Worm; gene == unc-49; score == 223; expect == 3.6e-58; MEOW:CEgn0002935 (36%) |species == Mosquito; gene == LOC22957; score == 221; expect == 3.8e-58; MEOW:AGgn0022957 (40%) |species == Fruitfly; gene == Rdl; score == 220; expect == 6.7e-58; MEOW:FBgn0004244 (40%) |species == Zfish; gene == glra1; score == 219; expect == 1.0e-58; MEOW:ZFgn0000643 (43%) |species == Mosquito; score == 218; expect == 2.4e-57; MEOW:AGgn0005863 (39%) |species == Mosquito; gene == LOC24940; score == 218; expect == 2.4e-57; MEOW:AGgn0024940 (39%) |species == Zfish; gene == glra4b; score == 210; expect == 6.1e-56; MEOW:ZFgn0002513 (43%) |species == Worm; gene == glc-3; score == 209; expect == 2.4e-54; MEOW:CEgn0000756 (30%) |species == Worm; gene == F11H8.2; score == 206; expect == 1.5e-53; MEOW:CEgn0008248 (32%) |species == Worm; gene == avr-14; score == 200; expect == 8.5e-52; MEOW:CEgn0022736 (31%) |species == Zfish; gene == glrb; score == 200; expect == 8.3e-53; MEOW:ZFgn0002211 (31%) |species == Fruitfly; gene == GluCl&agr;; score == 199; expect == 2.1e-51; MEOW:FBgn0024963 (33%) |species == Fruitfly; gene == HisCl1; score == 193; expect == 1.3e-49; MEOW:FBgn0037950 (34%) |species == Fruitfly; gene == ort; score == 184; expect == 5.3e-47; MEOW:FBgn0003011 (35%) } # EOR GENR { RETE|ID 1 HUgn0002568 CHR 1 5 DID 1 LocusLink:2568 MAP 1 5q33-q34 NAM 1 gamma-aminobutyric acid (GABA) A receptor, pi ORG 1 Homo sapiens SYM 1 GABRP ID|HUgn0002568 DID|LocusLink:2568 ORG|Homo sapiens RSQ|REFSEQ:NM_014211 RPA|REFPROT:NP_055026 DBA|XM:NM_014211 |NA:AF009693 |NA:AF009694 |NA:AF009695 |NA:AF009696 |NA:AF009697 |NA:AF009698 |NA:AF009699 |NA:AF009700 |NA:AF009701 |NA:AF009702 |NA:AK055205 |NA:U95367 |NA:none PAC|XP:NP_055026 SYM|GABRP NAM|gamma-aminobutyric acid (GABA) A receptor, pi FNC|gamma-aminobutyric acid (GABA) A receptor, pi |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel |that mediates the fastest inhibitory synaptic transmission in the central nervous |system. The subunit encoded by this gene is expressed in several non-neuronal tissues |including the uterus and ovaries. This subunit can assemble with known GABA A receptor |subunits, and the presence of this subunit alters the sensitivity of recombinant |receptors to modulatory agents such as pregnanolone. CHR|5 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439141 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2568[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6275871 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014211 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014211 DBL|UNIGENE:Hs.439141 |OMIM:602729 |SNP:2568 MAP|5q33-q34 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 783; expect == 0.0; MEOW:ref|NP_112291.1| (92%) |species == Mouse; gene == Gabrp; score == 778; expect == 0.0; MEOW:MGgn0044009 (92%) |species == Human; gene == GABRB1; score == 320; expect == 9.9e-88; MEOW:HUgn0002560 (41%) |species == Human; gene == GABRD; score == 320; expect == 1.3e-87; MEOW:HUgn0002563 (41%) |species == Human; gene == GABRB3; score == 309; expect == 1.8e-84; MEOW:HUgn0002562 (40%) |species == Human; gene == GABRB2; score == 305; expect == 2.5e-83; MEOW:HUgn0002561 (38%) |species == Mosquito; score == 288; expect == 1.8e-78; MEOW:AGgn0017404 (37%) |species == Fruitfly; gene == Lcch3; score == 285; expect == 2.1e-77; MEOW:FBgn0010240 (47%) |species == Human; gene == GABRR2; score == 285; expect == 4.6e-77; MEOW:HUgn0002570 (37%) |species == Human; gene == GABRR1; score == 283; expect == 1.0e-76; MEOW:HUgn0002569 (36%) |species == Human; gene == LOC200959; score == 276; expect == 1.3e-74; MEOW:HUgn0200959 (35%) |species == Zfish; gene == glra3; score == 275; expect == 1.5e-75; MEOW:ZFgn0002512 (36%) |species == Human; gene == GLRA2; score == 272; expect == 2.4e-73; MEOW:HUgn0002742 (36%) |species == Human; gene == GLRA1; score == 271; expect == 6.9e-73; MEOW:HUgn0002741 (37%) |species == Zfish; gene == glra4a; score == 270; expect == 1.6e-72; MEOW:ZFgn0002134 (36%) |species == Human; gene == GLRA3; score == 267; expect == 1.1e-71; MEOW:HUgn0008001 (37%) |species == Zfish; gene == glra1; score == 267; expect == 4.0e-73; MEOW:ZFgn0000643 (37%) |species == Mosquito; gene == LOC24940; score == 256; expect == 1.3e-68; MEOW:AGgn0024940 (39%) |species == Worm; gene == gab-1; score == 256; expect == 9.2e-69; MEOW:CEgn0030056 (43%) |species == Mosquito; score == 255; expect == 2.2e-68; MEOW:AGgn0005863 (39%) |species == Mosquito; gene == LOC22957; score == 255; expect == 2.9e-68; MEOW:AGgn0022957 (38%) |species == Fruitfly; gene == Rdl; score == 253; expect == 1.1e-67; MEOW:FBgn0004244 (39%) |species == Zfish; gene == glra4b; score == 246; expect == 9.4e-67; MEOW:ZFgn0002513 (43%) |species == Worm; gene == F11H8.2; score == 240; expect == 6.9e-64; MEOW:CEgn0008248 (31%) |species == Worm; gene == unc-49; score == 227; expect == 6.0e-60; MEOW:CEgn0002935 (38%) |species == Worm; gene == avr-15; score == 213; expect == 1.5e-55; MEOW:CEgn0000098 (31%) |species == Worm; gene == glc-1; score == 209; expect == 1.7e-54; MEOW:CEgn0000754 (30%) |species == Worm; gene == glc-3; score == 208; expect == 2.9e-54; MEOW:CEgn0000756 (31%) |species == Worm; gene == avr-14; score == 208; expect == 3.8e-54; MEOW:CEgn0022736 (31%) } # EOR GENR { RETE|ID 1 HUgn0002569 CHR 1 6 DID 1 LocusLink:2569 MAP 1 6q14-q21 NAM 1 gamma-aminobutyric acid (GABA) receptor, rho 1 ORG 1 Homo sapiens SYM 1 GABRR1 ID|HUgn0002569 DID|LocusLink:2569 ORG|Homo sapiens RSQ|REFSEQ:NM_002042 RPA|REFPROT:NP_002033 DBA|XM:NM_002042 |NA:M62400 |NA:none PAC|XP:NP_002033 SYM|GABRR1 NAM|gamma-aminobutyric acid (GABA) receptor, rho 1 FNC|gamma-aminobutyric acid (GABA) receptor, rho 1 |gamma-aminobutyric acid signaling pathway ; GO:0007214 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member |of the rho subunit family. CHR|6 PRD|gamma-aminobutyric acid (GABA) A receptor, rho-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437745 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2569[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127887 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002042 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002042 DBL|UNIGENE:Hs.437745 |OMIM:137161 |SNP:2569 MAP|6q14-q21 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 886; expect == 0.0; MEOW:ref|NP_058987.1| (94%) |species == Mouse; gene == Gabrr1; score == 881; expect == 0.0; MEOW:MGgn0004531 (93%) |species == Human; gene == GABRR2; score == 636; expect == 0.0; MEOW:HUgn0002570 (74%) |species == Human; gene == LOC200959; score == 510; expect == 1e-144; MEOW:HUgn0200959 (60%) |species == Fruitfly; gene == Lcch3; score == 289; expect == 1.2e-78; MEOW:FBgn0010240 (39%) |species == Worm; gene == gab-1; score == 278; expect == 3.3e-75; MEOW:CEgn0030056 (49%) |species == Mosquito; score == 274; expect == 3.8e-74; MEOW:AGgn0017404 (45%) |species == Mosquito; gene == LOC22957; score == 255; expect == 2.4e-68; MEOW:AGgn0022957 (40%) |species == Mosquito; gene == LOC24940; score == 254; expect == 4.1e-68; MEOW:AGgn0024940 (40%) |species == Mosquito; score == 253; expect == 7.0e-68; MEOW:AGgn0005863 (40%) |species == Zfish; gene == glra1; score == 252; expect == 1.9e-68; MEOW:ZFgn0000643 (34%) |species == Fruitfly; gene == Rdl; score == 249; expect == 1.4e-66; MEOW:FBgn0004244 (42%) |species == Fruitfly; gene == GluCl&agr;; score == 249; expect == 2.2e-66; MEOW:FBgn0024963 (34%) |species == Zfish; gene == glra3; score == 249; expect == 1.6e-67; MEOW:ZFgn0002512 (35%) |species == Mosquito; gene == LOC9685; score == 244; expect == 9.4e-65; MEOW:AGgn0009685 (34%) |species == Mosquito; gene == LOC15782; score == 244; expect == 7.2e-65; MEOW:AGgn0015782 (34%) |species == Worm; gene == unc-49; score == 244; expect == 6.8e-65; MEOW:CEgn0002935 (42%) |species == Zfish; gene == glra4a; score == 244; expect == 3.9e-66; MEOW:ZFgn0002134 (35%) |species == Worm; gene == F11H8.2; score == 240; expect == 9.8e-64; MEOW:CEgn0008248 (36%) |species == Zfish; gene == glra4b; score == 236; expect == 1.4e-63; MEOW:ZFgn0002513 (34%) |species == Zfish; gene == glrb; score == 223; expect == 1.9e-58; MEOW:ZFgn0002211 (36%) } # EOR GENR { RETE|ID 1 HUgn0002570 CHR 1 6 DID 1 LocusLink:2570 MAP 1 6q14-q21 NAM 1 gamma-aminobutyric acid (GABA) receptor, rho 2 ORG 1 Homo sapiens SYM 1 GABRR2 ID|HUgn0002570 DID|LocusLink:2570 ORG|Homo sapiens RSQ|REFSEQ:NM_002043 RPA|REFPROT:NP_002034 DBA|XM:NM_002043 |NA:M86868 |NA:none PAC|XP:NP_002034 SYM|GABRR2 NAM|gamma-aminobutyric acid (GABA) receptor, rho 2 FNC|gamma-aminobutyric acid (GABA) receptor, rho 2 precursor |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |signal transduction ; GO:0007165 REAB|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts |at GABA receptors, which are ligand-gated chloride channels. GABRR2 is a member |of the rho subunit family CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99927 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2570[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128713 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002043 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002043 DBL|UNIGENE:Hs.99927 |OMIM:137162 |SNP:2570 MAP|6q14-q21 ENZ|extracellular ligand-gated ion channel activity ; GO:0005230 |ion channel activity ; GO:0005216 |GABA-A receptor activity ; GO:0004890 |neurotransmitter receptor activity ; GO:0030594 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 844; expect == 0.0; MEOW:ref|NP_058988.1| (90%) |species == Mouse; gene == Gabrr2; score == 795; expect == 0.0; MEOW:MGgn0004532 (87%) |species == Mouse; gene == Gabrr1; score == 652; expect == 0.0; MEOW:MGgn0004531 (74%) |species == Human; gene == GABRR1; score == 636; expect == 0.0; MEOW:HUgn0002569 (74%) |species == Fruitfly; gene == Lcch3; score == 276; expect == 2.5e-74; MEOW:FBgn0010240 (41%) |species == Zfish; gene == glra4a; score == 273; expect == 1.9e-73; MEOW:ZFgn0002134 (37%) |species == Mosquito; score == 266; expect == 1.4e-71; MEOW:AGgn0017404 (48%) |species == Worm; gene == gab-1; score == 260; expect == 2.1e-69; MEOW:CEgn0030056 (51%) |species == Mosquito; gene == LOC9685; score == 253; expect == 2.0e-67; MEOW:AGgn0009685 (35%) |species == Mosquito; gene == LOC15782; score == 253; expect == 1.6e-67; MEOW:AGgn0015782 (35%) |species == Fruitfly; gene == GluCl&agr;; score == 252; expect == 3.4e-67; MEOW:FBgn0024963 (34%) |species == Mosquito; gene == LOC22957; score == 250; expect == 2.0e-66; MEOW:AGgn0022957 (43%) |species == Zfish; gene == glra4b; score == 250; expect == 1.6e-66; MEOW:ZFgn0002513 (36%) |species == Mosquito; gene == LOC24940; score == 248; expect == 7.7e-66; MEOW:AGgn0024940 (43%) |species == Mosquito; score == 247; expect == 1.3e-65; MEOW:AGgn0005863 (43%) |species == Fruitfly; gene == Rdl; score == 246; expect == 2.7e-65; MEOW:FBgn0004244 (43%) |species == Worm; gene == unc-49; score == 231; expect == 1.3e-60; MEOW:CEgn0002935 (40%) |species == Zfish; gene == glra3; score == 231; expect == 2.6e-62; MEOW:ZFgn0002512 (35%) |species == Zfish; gene == glra1; score == 224; expect == 5.3e-60; MEOW:ZFgn0000643 (35%) |species == Worm; gene == F11H8.2; score == 218; expect == 4.1e-57; MEOW:CEgn0008248 (35%) |species == Worm; gene == K10D6.1; score == 209; expect == 3.8e-54; MEOW:CEgn0013751 (30%) } # EOR GENR { RETE|ID 1 HUgn0002571 CHR 1 2 DID 1 LocusLink:2571 MAP 1 2q31 NAM 1 glutamate decarboxylase 1 (brain, 67kDa) ORG 1 Homo sapiens SYM 1 GAD1 ID|HUgn0002571 DID|LocusLink:2571 ORG|Homo sapiens RSQ|REFSEQ:NM_000817 |REFSEQ:NM_013445 RPA|REFPROT:NP_000808 |REFPROT:NP_038473 DBA|XM:NM_000817 |XM:NM_013445 |NA:M86522 |NA:AF178853 |NA:BC002815 |NA:BC026349 |NA:BC036552 |NA:BC037780 |NA:L16888 |NA:M55574 |NA:M70434 |NA:M70435 |NA:M81883 |NA:S61897 |NA:S61898 |NA:Z22750 PAC|XP:NP_000808 |XP:NP_038473 SYM|GAD1 NAM|glutamate decarboxylase 1 (brain, 67kDa) SYN|GAD |GAD25 |GAD67 FNC|glutamate decarboxylase 1 isoform GAD25 |glutamate decarboxylase 1 isoform GAD67 |glutamate decarboxylation to succinate ; GO:0006540 |synaptic transmission ; GO:0007268 REAB|This gene encodes one of several forms of glutamic acid decarboxylase, identified |as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible |for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A |pathogenic role for this enzyme has been identified in the human pancreas since |it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent |diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in |this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative |splicing of this gene results in two products, the predominant 67-kD form and a |less-frequent 25-kD form. CHR|2 PRD|glutamate decarboxylase 1 (brain, 67kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=420036 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2571[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119244 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000817 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000817 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=420036 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00430 DBL|UNIGENE:Hs.420036 |OMIM:605363 |SNP:2571 ENZ|EC:4.1.1.15 MAP|2q31 HG|species == Mouse; gene == Gad1; score == 1167; expect == 0.0; MEOW:MGgn0004537 (97%) |species == rat; score == 1167; expect == 0.0; MEOW:ref|NP_058703.1| (97%) |species == Human; gene == GAD2; score == 783; expect == 0.0; MEOW:HUgn0002572 (65%) |species == Worm; gene == unc-25; score == 595; expect == 1e-170; MEOW:CEgn0002913 (56%) |species == Fruitfly; gene == Gad1; score == 590; expect == 6e-169; MEOW:FBgn0004516 (57%) |species == Mosquito; score == 585; expect == 1e-167; MEOW:AGgn0016822 (55%) |species == Mosquito; gene == LOC13909; score == 525; expect == 1e-149; MEOW:AGgn0013909 (53%) |species == Weed; gene == At4g28680; score == 144; expect == 1.1e-34; MEOW:ATgn0019396 (27%) |species == rice; score == 140; expect == 4.4e-33; MEOW:gnl|TIGR|8355.m02311 (27%) |species == rice; score == 138; expect == 2.2e-32; MEOW:gnl|TIGR|8356.m00358 (25%) |species == rice; score == 137; expect == 3.8e-32; MEOW:gnl|TIGR|8356.m00356 (26%) |species == Weed; gene == At2g20340; score == 136; expect == 3.0e-32; MEOW:ATgn0009303 (26%) } # EOR GENR { RETE|ID 1 HUgn0002572 CHR 1 10 DID 1 LocusLink:2572 MAP 1 10p11.23 NAM 1 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) ORG 1 Homo sapiens SYM 1 GAD2 ID|HUgn0002572 DID|LocusLink:2572 ORG|Homo sapiens RSQ|REFSEQ:NM_000818 RPA|REFPROT:NP_000809 DBA|XM:NM_000818 |NA:AJ251501 |NA:M74826 |NA:M81882 PAC|XP:NP_000809 SYM|GAD2 NAM|glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) SYN|GAD65 FNC|glutamate decarboxylase 2 |glutamate decarboxylation to succinate ; GO:0006540 |synaptic transmission ; GO:0007268 REAB|This gene encodes one of several forms of glutamic acid decarboxylase, identified |as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible |for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. |A pathogenic role for this enzyme has been identified in the human pancreas since |it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent |diabetes. This gene may also play a role in the stiff man syndrome. CHR|10 PRD|Glutamate decarboxylase-2 (pancreas) |glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=231829 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2572[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128595 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000818 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000818 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00430 DBL|UNIGENE:Hs.231829 |OMIM:138275 |SNP:2572 ENZ|EC:4.1.1.15 MAP|10p11.23 HG|species == rat; score == 1134; expect == 0.0; MEOW:ref|NP_036695.1| (96%) |species == Mouse; gene == Gad2; score == 1121; expect == 0.0; MEOW:MGgn0004539 (95%) |species == rat; score == 787; expect == 0.0; MEOW:ref|NP_058703.1| (66%) |species == Mouse; gene == Gad1; score == 785; expect == 0.0; MEOW:MGgn0004537 (66%) |species == Human; gene == GAD1; score == 783; expect == 0.0; MEOW:HUgn0002571 (65%) |species == Worm; gene == unc-25; score == 564; expect == 5e-161; MEOW:CEgn0002913 (52%) |species == Fruitfly; gene == Gad1; score == 553; expect == 1e-157; MEOW:FBgn0004516 (54%) |species == Mosquito; score == 549; expect == 1e-156; MEOW:AGgn0016822 (52%) |species == Mosquito; gene == LOC13909; score == 520; expect == 6e-148; MEOW:AGgn0013909 (51%) |species == Fruitfly; gene == b; score == 474; expect == 6e-134; MEOW:FBgn0000153 (46%) } # EOR GENR { RETE|ID 1 HUgn0002573 CHR 1 22 DID 1 LocusLink:2573 MAP 1 22q13 NAM 1 glutamate decarboxylase 3 ORG 1 Homo sapiens SYM 1 GAD3 ID|HUgn0002573 DID|LocusLink:2573 ORG|Homo sapiens SYM|GAD3 NAM|glutamate decarboxylase 3 CHR|22 DBL|OMIM:138276 MAP|22q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:215263 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00430 } # EOR GENR { RETE|ID 1 HUgn0002574 CHR 1 X DID 1 LocusLink:2574 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 2 ORG 1 Homo sapiens SYM 1 GAGE2 ID|HUgn0002574 DID|LocusLink:2574 ORG|Homo sapiens RSQ|REFSEQ:NM_001472 RPA|REFPROT:NP_001463 DBA|XM:NM_001472 |NA:U19143 |NA:none PAC|XP:NP_001463 SYM|GAGE2 NAM|G antigen 2 FNC|G antigen 2 |biological_process unknown ; GO:0000004 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The antigenic |peptide YRPRPRRY, which is also encoded by several other family members, is recognized |by autologous cytolytic T lymphocytes. Nothing is presently known about the function |of this protein. CHR|X DBL|OMIM:604244 |SNP:2574 MAP|Xp11.4-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568798 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001472 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001472 ENZ|molecular_function unknown ; GO:0005554 CEL|cellular_component unknown ; GO:0008372 HG|species == Human; gene == GAGE8; score == 180; expect == 8.9e-47; MEOW:HUgn0026749 (99%) |species == Human; gene == GAGE1; score == 165; expect == 3.0e-42; MEOW:HUgn0002543 (99%) } # EOR GENR { RETE|ID 1 HUgn0002575 CHR 1 X DID 1 LocusLink:2575 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 3 ORG 1 Homo sapiens SYM 1 GAGE3 ID|HUgn0002575 DID|LocusLink:2575 ORG|Homo sapiens DBA|NA:U19144 |NA:none SYM|GAGE3 NAM|G antigen 3 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The antigenic |peptide YYWPRPRRY, which is also encoded by several other family members, is recognized |by autologous cytolytic T lymphocytes. Nothing is presently known about the function |of this protein. CHR|X DBL|OMIM:604245 |SNP:2575 MAP|Xp11.4-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568799 } # EOR GENR { RETE|ID 1 HUgn0002576 CHR 1 X DID 1 LocusLink:2576 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 4 ORG 1 Homo sapiens SYM 1 GAGE4 ID|HUgn0002576 DID|LocusLink:2576 ORG|Homo sapiens RSQ|REFSEQ:NM_001474 RPA|REFPROT:NP_001465 DBA|XM:NM_001474 |NA:U19145 |NA:none PAC|XP:NP_001465 SYM|GAGE4 NAM|G antigen 4 FNC|G antigen 4 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The antigenic |peptide YYWPRPRRY, which is also encoded by several other family members, is recognized |by autologous cytolytic T lymphocytes. Nothing is presently known about the function |of this protein. CHR|X DBL|OMIM:604246 |SNP:2576 MAP|Xp11.4-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568800 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001474 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001474 HG|species == Human; gene == GAGE5; score == 222; expect == 2.0e-59; MEOW:HUgn0002577 (99%) |species == Human; gene == GAGE6; score == 221; expect == 5.9e-59; MEOW:HUgn0002578 (98%) |species == Human; gene == GAGE7; score == 221; expect == 4.6e-59; MEOW:HUgn0002579 (99%) |species == Human; gene == GAGE7B; score == 221; expect == 4.6e-59; MEOW:HUgn0026748 (99%) |species == Human; gene == GAGE8; score == 210; expect == 8.0e-56; MEOW:HUgn0026749 (97%) |species == Human; gene == GAGE2; score == 208; expect == 5.2e-55; MEOW:HUgn0002574 (96%) |species == Human; gene == LOC374304; score == 204; expect == 1.0e-53; MEOW:HUgn0374304 (97%) |species == Human; gene == GAGE1; score == 195; expect == 2.7e-51; MEOW:HUgn0002543 (97%) } # EOR GENR { RETE|ID 1 HUgn0002577 CHR 1 X DID 1 LocusLink:2577 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 5 ORG 1 Homo sapiens SYM 1 GAGE5 ID|HUgn0002577 DID|LocusLink:2577 ORG|Homo sapiens RSQ|REFSEQ:NM_001475 RPA|REFPROT:NP_001466 DBA|XM:NM_001475 |NA:BC024914 |NA:BC031628 |NA:U19146 |NA:none PAC|XP:NP_001466 SYM|GAGE5 NAM|G antigen 5 FNC|G antigen 5 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The antigenic |peptide YYWPRPRRY, which is also encoded by several other family members, is recognized |by autologous cytolytic T lymphocytes. Nothing is presently known about the function |of this protein. CHR|X DBL|OMIM:604247 |SNP:2577 MAP|Xp11.4-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568802 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001475 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001475 HG|species == Human; gene == GAGE4; score == 222; expect == 2.0e-59; MEOW:HUgn0002576 (99%) |species == Human; gene == GAGE6; score == 222; expect == 2.7e-59; MEOW:HUgn0002578 (99%) |species == Human; gene == GAGE7; score == 219; expect == 1.3e-58; MEOW:HUgn0002579 (98%) |species == Human; gene == GAGE7B; score == 219; expect == 1.3e-58; MEOW:HUgn0026748 (98%) |species == Human; gene == GAGE8; score == 209; expect == 2.3e-55; MEOW:HUgn0026749 (96%) |species == Human; gene == GAGE2; score == 206; expect == 1.5e-54; MEOW:HUgn0002574 (95%) |species == Human; gene == LOC374304; score == 203; expect == 1.3e-53; MEOW:HUgn0374304 (96%) |species == Human; gene == GAGE1; score == 194; expect == 7.8e-51; MEOW:HUgn0002543 (96%) } # EOR GENR { RETE|ID 1 HUgn0002578 CHR 1 X DID 1 LocusLink:2578 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 6 ORG 1 Homo sapiens SYM 1 GAGE6 ID|HUgn0002578 DID|LocusLink:2578 ORG|Homo sapiens RSQ|REFSEQ:NM_001476 RPA|REFPROT:NP_001467 DBA|XM:NM_001476 |NA:U19147 |NA:none PAC|XP:NP_001467 SYM|GAGE6 NAM|G antigen 6 FNC|G antigen 6 REAB|This gene belongs to a family of genes that are expressed in a variety of tumors |but not in normal tissues, except for the testis. The sequences of the family members |are highly related but differ by scattered nucleotide substitutions. The antigenic |peptide YYWPRPRRY, which is also encoded by several other family members, is recognized |by autologous cytolytic T lymphocytes. Nothing is presently known about the function |of this protein. CHR|X DBL|OMIM:604248 |SNP:2578 MAP|Xp11.4-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568803 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001476 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001476 HG|species == Human; gene == GAGE5; score == 222; expect == 2.7e-59; MEOW:HUgn0002577 (99%) |species == Human; gene == GAGE4; score == 221; expect == 5.9e-59; MEOW:HUgn0002576 (98%) |species == Human; gene == GAGE7; score == 218; expect == 3.9e-58; MEOW:HUgn0002579 (97%) |species == Human; gene == GAGE7B; score == 218; expect == 3.9e-58; MEOW:HUgn0026748 (97%) |species == Human; gene == GAGE8; score == 207; expect == 6.8e-55; MEOW:HUgn0026749 (95%) |species == Human; gene == GAGE2; score == 204; expect == 4.4e-54; MEOW:HUgn0002574 (94%) |species == Human; gene == LOC374304; score == 201; expect == 3.7e-53; MEOW:HUgn0374304 (95%) |species == Human; gene == GAGE1; score == 192; expect == 2.3e-50; MEOW:HUgn0002543 (95%) } # EOR GENR { RETE|ID 1 HUgn0002579 CHR 1 X DID 1 LocusLink:2579 MAP 1 Xp11.4-p11.2 NAM 1 G antigen 7 ORG 1 Homo sapiens SYM 1 GAGE7 ID|HUgn0002579 DID|LocusLink:2579 ORG|Homo sapiens RSQ|REFSEQ:NM_021123 RPA|REFPROT:NP_066946 DBA|XM:NM_021123 |NA:AF058988 PAC|XP:NP_066946 SYM|GAGE7 NAM|G antigen 7 SYN|GAGE-7 FNC|G antigen 7 CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9864290 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021123 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021123 DBL|UNIGENE:Hs.278606 |OMIM:604132 |SNP:2579 MAP|Xp11.4-p11.2 HG|species == Human; gene == GAGE7B; score == 224; expect == 4.1e-60; MEOW:HUgn0026748 (100%) |species == Human; gene == GAGE4; score == 221; expect == 4.6e-59; MEOW:HUgn0002576 (99%) |species == Human; gene == GAGE5; score == 219; expect == 1.3e-58; MEOW:HUgn0002577 (98%) |species == Human; gene == GAGE6; score == 218; expect == 3.9e-58; MEOW:HUgn0002578 (97%) |species == Human; gene == GAGE2; score == 211; expect == 4.7e-56; MEOW:HUgn0002574 (97%) |species == Human; gene == GAGE8; score == 208; expect == 5.2e-55; MEOW:HUgn0026749 (96%) |species == Human; gene == LOC374304; score == 208; expect == 4.0e-55; MEOW:HUgn0374304 (98%) |species == Human; gene == GAGE1; score == 193; expect == 1.7e-50; MEOW:HUgn0002543 (96%) } # EOR GENR { RETE|ID 1 HUgn0002580 CHR 1 4 DID 1 LocusLink:2580 MAP 1 4p16 NAM 1 cyclin G associated kinase ORG 1 Homo sapiens SYM 1 GAK ID|HUgn0002580 DID|LocusLink:2580 ORG|Homo sapiens RSQ|REFSEQ:NM_005255 RPA|REFPROT:NP_005246 DBA|XM:NM_005255 |NA:BC000816 |NA:BC001290 |NA:BC008668 |NA:BT007015 |NA:D88435 |NA:none PAC|XP:NP_005246 SYM|GAK NAM|cyclin G associated kinase FNC|cyclin G associated kinase REAB|In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases |(CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse |array of mechanisms that involve the control of phosphorylation and dephosphorylation |of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain |called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, |and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional |target of the p53 tumor suppressor gene product and thus functions downstream of |p53. GAK is an association partner of cyclin G and CDK5. CHR|4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=153227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2580[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5560469 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005255 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005255 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=153227 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.153227 |OMIM:602052 |SNP:2580 MAP|4p16 HG|species == rat; score == 2079; expect == 0.0; MEOW:ref|NP_112292.1| (82%) |species == Mouse; gene == Gak; score == 776; expect == 0.0; MEOW:MGgn0044010 (68%) |species == Human; gene == DNAJC6; score == 710; expect == 0.0; MEOW:HUgn0009829 (43%) |species == Mosquito; gene == LOC5528; score == 544; expect == 1e-154; MEOW:AGgn0005528 (42%) |species == Weed; gene == At2g32850; score == 209; expect == 3.0e-54; MEOW:ATgn0010283 (40%) |species == rice; score == 202; expect == 6.5e-52; MEOW:gnl|TIGR|8357.m00815 (41%) |species == rice; score == 195; expect == 5.9e-50; MEOW:gnl|TIGR|8351.m03569 (38%) |species == Worm; gene == F46G11.3; score == 182; expect == 4.4e-46; MEOW:CEgn0011097 (36%) |species == Fruitfly; gene == Nak; score == 179; expect == 3.6e-45; MEOW:FBgn0015772 (38%) |species == Worm; gene == sel-5; score == 166; expect == 5.3e-41; MEOW:CEgn0002525 (37%) |species == Yeast; gene == ARK1; score == 162; expect == 7.0e-40; MEOW:SGgn0004965 (34%) |species == Yeast; gene == PRK1; score == 161; expect == 1.2e-39; MEOW:SGgn0001357 (34%) |species == Yeast; gene == AKL1; score == 157; expect == 2.5e-38; MEOW:SGgn0000263 (36%) |species == Fruitfly; gene == auxillin; score == 156; expect == 3.1e-38; MEOW:FBgn0037218 (33%) } # EOR GENR { RETE|ID 1 HUgn0002581 CHR 1 14 DID 1 LocusLink:2581 MAP 1 14q31 NAM 1 galactosylceramidase (Krabbe disease) ORG 1 Homo sapiens SYM 1 GALC ID|HUgn0002581 DID|LocusLink:2581 ORG|Homo sapiens RSQ|REFSEQ:NM_000153 RPA|REFPROT:NP_000144 DBA|XM:NM_000153 |NA:D86181 |NA:L38559 |NA:BC036518 |NA:D25283 |NA:D25284 |NA:L23116 |NA:none PAC|XP:NP_000144 SYM|GALC NAM|galactosylceramidase (Krabbe disease) FNC|galactosylceramidase precursor |carbohydrate metabolism ; GO:0005975 |galactosylceramide catabolism ; GO:0006683 REAB|Galactosylceramidase (GALC) is a lysosomal enzyme that hydrolyzes several galactolipids. |GALC deficiency is associated with Krabbe disease (globoid cell leukodystrophy). |The gene is about 60 kb in length and consists of 17 exons. This gene contains ten |GC-box-like sequences within the promoter region but no typical TATA box. This feature |is also characteristic of other lysosomal protein encoding genes. CHR|14 PRD|galactocerebrosidase |Galactosylceraminidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=408273 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2581[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119970 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000153 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000153 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=408273 |http://www.geneclinics.org/query?mim=245200 |http://www.geneclinics.org/query?mim=606890 DBL|UNIGENE:Hs.408273 |OMIM:606890 |SNP:2581 ENZ|EC:3.2.1.46 |galactosylceramidase activity ; GO:0004336 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 MAP|14q31 PHP|Krabbe disease CEL|lysosome ; GO:0005764 HG|species == rat; score == 1178; expect == 0.0; MEOW:ref|XP_234366.2| (82%) |species == Mouse; gene == Galc; score == 1126; expect == 0.0; MEOW:MGgn0004543 (83%) |species == Worm; gene == C29E4.10; score == 152; expect == 3.1e-37; MEOW:CEgn0021661 (42%) } # EOR GENR { RETE|ID 1 HUgn0002582 CHR 1 1 DID 1 LocusLink:2582 MAP 1 1p36-p35 NAM 1 galactose-4-epimerase, UDP- ORG 1 Homo sapiens SYM 1 GALE ID|HUgn0002582 DID|LocusLink:2582 ORG|Homo sapiens RSQ|REFSEQ:NM_000403 RPA|REFPROT:NP_000394 DBA|XM:NM_000403 |NA:AF022382 |NA:AK057302 |NA:BC001273 |NA:BC050685 |NA:L41668 |NA:none PAC|XP:NP_000394 SYM|GALE NAM|galactose-4-epimerase, UDP- FNC|UDP-galactose-4-epimerase |nucleotide-sugar metabolism ; GO:0009225 |galactose metabolism ; GO:0006012 |carbohydrate metabolism ; GO:0005975 REAB|This gene encodes UDP-galactose-4-epimerase which catalyzes 2 distinct but analogous |reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization |of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature |of the enzyme has the important metabolic consequence that mutant cells (or individuals) |are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine |for necessary precursor for the synthesis of glycoproteins and glycolipids. The |missense mutations in the GALE gene result in the epimerase-deficiency galactosemia. CHR|1 PRD|galactowaldenase |UDP galactose-4-epimerase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76057 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2582[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119245 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000403 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000403 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76057 |http://www.geneclinics.org/query?mim=230350 |http://www.geneclinics.org/query?mim=606953 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00520 DBL|UNIGENE:Hs.76057 |OMIM:606953 |SNP:2582 ENZ|EC:5.1.3.2 |UDP-glucose 4-epimerase activity ; GO:0003978 |isomerase activity ; GO:0016853 MAP|1p36-p35 PHP|Galactose epimerase deficiency HG|species == Mouse; gene == Gale; score == 661; expect == 0.0; MEOW:MGgn0019483 (93%) |species == rat; score == 604; expect == 3e-173; MEOW:ref|NP_542961.1| (87%) |species == Mosquito; gene == LOC16575; score == 459; expect == 4e-130; MEOW:AGgn0016575 (63%) |species == Fruitfly; gene == CG12030; score == 443; expect == 4e-125; MEOW:FBgn0035147 (60%) |species == Mosquito; score == 418; expect == 1e-117; MEOW:AGgn0005081 (56%) |species == Weed; gene == At4g10960; score == 417; expect == 6e-117; MEOW:ATgn0018205 (59%) |species == Weed; gene == At4g23920; score == 414; expect == 5e-116; MEOW:ATgn0018873 (58%) |species == Worm; gene == C47B2.6; score == 407; expect == 3e-114; MEOW:CEgn0006640 (57%) |species == rice; score == 401; expect == 9e-112; MEOW:gnl|TIGR|8353.m04627 (59%) |species == Weed; gene == At1g64440; score == 385; expect == 2e-107; MEOW:ATgn0003261 (56%) |species == rice; score == 384; expect == 5e-107; MEOW:gnl|TIGR|8357.m01245 (57%) |species == rice; score == 383; expect == 1e-106; MEOW:gnl|TIGR|8356.m02720 (53%) |species == Weed; gene == At1g12780; score == 382; expect == 1e-106; MEOW:ATgn0001004 (55%) |species == Weed; gene == At1g63180; score == 373; expect == 7e-104; MEOW:ATgn0000563 (54%) |species == ecoli; score == 369; expect == 1e-102; MEOW:ref|NP_415280.1| (52%) |species == Yeast; gene == GAL10; score == 360; expect == 1.1e-99; MEOW:SGgn0000223 (54%) |species == rice; score == 348; expect == 3.1e-96; MEOW:gnl|TIGR|8357.m02951 (49%) } # EOR GENR { RETE|ID 1 HUgn0002583 CHR 1 12 DID 1 LocusLink:2583 MAP 1 12q13.3 NAM 1 UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) ORG 1 Homo sapiens SYM 1 GALGT ID|HUgn0002583 DID|LocusLink:2583 ORG|Homo sapiens RSQ|REFSEQ:NM_001478 RPA|REFPROT:NP_001469 DBA|XM:NM_001478 |NA:L76079 |NA:BC029828 |NA:M83651 |NA:none PAC|XP:NP_001469 SYM|GALGT NAM|UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) SYN|GALNACT FNC|UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase REAB|GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T |is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. |GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, |resulting in the synthesis of G(M2) and G(D2), respectively. CHR|12 PRD|GalNAc-T |beta1,4GalNAc-T |beta1-4GalNAc-T URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159481 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2583[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9834158 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001478 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001478 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159481 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00604 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 DBL|UNIGENE:Hs.159481 |OMIM:601873 |SNP:2583 ENZ|EC:2.4.1.92 MAP|12q13.3 HG|species == Mouse; gene == Galgt1; score == 876; expect == 0.0; MEOW:MGgn0004544 (86%) |species == rat; score == 872; expect == 0.0; MEOW:ref|NP_074051.1| (87%) |species == Human; gene == GALGT2; score == 362; expect == 3e-100; MEOW:HUgn0124872 (43%) } # EOR GENR { RETE|ID 1 HUgn0002584 CHR 1 17 DID 1 LocusLink:2584 MAP 1 17q24 NAM 1 galactokinase 1 ORG 1 Homo sapiens SYM 1 GALK1 ID|HUgn0002584 DID|LocusLink:2584 ORG|Homo sapiens RSQ|REFSEQ:NM_000154 RPA|REFPROT:NP_000145 DBA|XM:NM_000154 |NA:AF084935 |NA:L76927 |NA:AK130064 |NA:BC001166 |NA:BT007005 |NA:U26401 |NA:none PAC|XP:NP_000145 SYM|GALK1 NAM|galactokinase 1 SYN|GK1 |GALK FNC|galactokinase 1 |galactose metabolism ; GO:0006012 |metabolism ; GO:0008152 |phosphorylation ; GO:0016310 REAB|Galactokinase is a major enzyme for the metabolism of galactose and its deficiency |causes congenital cataracts during infancy and presenile cataracts in the adult |population. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407966 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2584[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119246 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000154 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000154 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=407966 |http://www.geneclinics.org/query?mim=604313 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 DBL|UNIGENE:Hs.407966 |OMIM:604313 |SNP:2584 |UWCM:119246.html ENZ|EC:2.7.1.6 |galactokinase activity ; GO:0004335 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|17q24 PHP|Galactokinase deficiency with cataracts CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 634; expect == 0.0; MEOW:ref|XP_213528.2| (87%) |species == Mouse; gene == Galk1; score == 628; expect == 2e-180; MEOW:MGgn0004766 (87%) |species == Mosquito; gene == LOC18617; score == 293; expect == 5.7e-80; MEOW:AGgn0018617 (53%) |species == ecoli; score == 242; expect == 2.9e-64; MEOW:ref|NP_415278.1| (44%) } # EOR GENR { RETE|ID 1 HUgn0002585 CHR 1 15 DID 1 LocusLink:2585 MAP 1 15q15.3 NAM 1 galactokinase 2 ORG 1 Homo sapiens SYM 1 GALK2 ID|HUgn0002585 DID|LocusLink:2585 ORG|Homo sapiens RSQ|REFSEQ:NM_002044 RPA|REFPROT:NP_002035 DBA|XM:NM_002044 |NA:AF461816 |NA:AK098049 |NA:AL832745 |NA:BC005141 |NA:BT006901 |NA:M84443 |NA:none PAC|XP:NP_002035 SYM|GALK2 NAM|galactokinase 2 SYN|GK2 FNC|galactokinase 2 |galactose metabolism ; GO:0006012 |carbohydrate metabolism ; GO:0005975 |phosphorylation ; GO:0016310 REAB|GALK2 protein is a N-acetylgalactosamine (GalNAc) kinase with galactokinase activity when galactose is present at high concentrations CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=129228 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2585[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136222 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002044 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002044 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=129228 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 DBL|UNIGENE:Hs.129228 |OMIM:137028 |SNP:2585 |UWCM:136222.html ENZ|EC:2.7.1.6 |galactokinase activity ; GO:0004335 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|15q15.3 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Galk2; score == 740; expect == 0.0; MEOW:MGgn0021570 (89%) |species == rat; score == 419; expect == 9e-118; MEOW:ref|XP_342513.1| (84%) |species == Mosquito; gene == LOC15230; score == 330; expect == 1.3e-90; MEOW:AGgn0015230 (44%) |species == Mosquito; gene == LOC15253; score == 329; expect == 1.7e-90; MEOW:AGgn0015253 (44%) |species == rice; score == 320; expect == 9.0e-88; MEOW:gnl|TIGR|8360.m05580 (42%) |species == Weed; gene == At3g06580; score == 319; expect == 2.6e-87; MEOW:ATgn0016792 (43%) |species == Fruitfly; gene == CG5288; score == 318; expect == 5.6e-87; MEOW:FBgn0035950 (43%) |species == Worm; gene == M01D7.4; score == 258; expect == 3.6e-69; MEOW:CEgn0013944 (39%) |species == Yeast; gene == GAL1; score == 255; expect == 4.9e-68; MEOW:SGgn0000224 (35%) |species == Yeast; gene == GAL3; score == 232; expect == 4.3e-61; MEOW:SGgn0002416 (35%) } # EOR GENR { RETE|ID 1 HUgn0002587 CHR 1 18 DID 1 LocusLink:2587 MAP 1 18q23 NAM 1 galanin receptor 1 ORG 1 Homo sapiens SYM 1 GALR1 ID|HUgn0002587 DID|LocusLink:2587 ORG|Homo sapiens RSQ|REFSEQ:NM_001480 RPA|REFPROT:NP_001471 DBA|XM:NM_001480 |NA:U90658 |NA:U90660 |NA:L34339 |NA:U23854 |NA:U53511 |NA:none PAC|XP:NP_001471 SYM|GALR1 NAM|galanin receptor 1 SYN|GALNR |GALNR1 FNC|galanin receptor 1 |negative regulation of adenylate cyclase activity ; GO:0007194 |neuropeptide signaling pathway ; GO:0007218 |ion transport ; GO:0006811 |synaptic transmission ; GO:0007268 |digestion ; GO:0007586 REAB|The neuropeptide galanin elicits a range of biological effects by interaction with |specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane |proteins shown to activate a variety of intracellular second-messenger pathways. | GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is |widely expressed in the brain and spinal cord, as well as in peripheral sites such |as the small intestine and heart. CHR|18 PRD|Galanin receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=272191 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2587[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392699 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001480 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001480 DBL|UNIGENE:Hs.272191 |OMIM:600377 |SNP:2587 MAP|18q23 ENZ|galanin receptor activity ; GO:0004966 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to membrane ; GO:0016021 |plasma membrane ; GO:0005886 HG|species == Mouse; gene == Galr1; score == 564; expect == 2e-161; MEOW:MGgn0004551 (92%) |species == rat; score == 253; expect == 7.8e-68; MEOW:ref|NP_037090.1| (93%) |species == Human; gene == GALR2; score == 242; expect == 2.9e-64; MEOW:HUgn0008811 (43%) |species == rat; score == 230; expect == 8.3e-61; MEOW:ref|NP_062045.1| (40%) |species == Human; gene == GALR3; score == 203; expect == 1.0e-52; MEOW:HUgn0008484 (38%) |species == Fruitfly; gene == AlstR; score == 183; expect == 1.6e-46; MEOW:FBgn0028961 (39%) |species == Fruitfly; gene == AR-2; score == 151; expect == 4.7e-37; MEOW:FBgn0039595 (35%) |species == Mosquito; gene == LOC11806; score == 146; expect == 3.6e-35; MEOW:AGgn0011806 (30%) |species == Worm; gene == ZK455.3; score == 141; expect == 8.3e-34; MEOW:CEgn0020959 (30%) |species == Zfish; gene == oprd1; score == 130; expect == 5.7e-32; MEOW:ZFgn0000223 (33%) } # EOR GENR { RETE|ID 1 HUgn0002588 CHR 1 16 DID 1 LocusLink:2588 MAP 1 16q24.3 NAM 1 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) ORG 1 Homo sapiens SYM 1 GALNS ID|HUgn0002588 DID|LocusLink:2588 ORG|Homo sapiens RSQ|REFSEQ:NM_000512 RPA|REFPROT:NP_000503 DBA|XM:NM_000512 |NA:D17616 |NA:D17629 |NA:U06088 |NA:AK021488 |NA:AK131096 |NA:BC007825 |NA:BC018027 |NA:BC050684 |NA:BC056151 |NA:BX649181 |NA:none PAC|XP:NP_000503 SYM|GALNS NAM|galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) SYN|GAS |MPS4A |GALNAC6S FNC|N-acetylgalactosamine-6-sulfatase precursor |metabolism ; GO:0008152 |glycosaminoglycan metabolism ; GO:0030203 REAB|This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase |required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin |6-sulfate. Sequence alterations including point mutations, misense, nonsense, and |those affecting splicing result in a deficiency of this enzyme, leading to the lysosomal |storage disorder Morquio A syndrome, an autosomal recessive disease. CHR|16 PRD|chondroitinase |Galactosamine (N-acetyl)-6-sulfate sulfatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159479 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2588[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129085 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000512 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000512 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159479 |http://www.geneclinics.org/query?mim=253000 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00531 DBL|UNIGENE:Hs.159479 |OMIM:253000 |SNP:2588 |UWCM:129085.html ENZ|EC:3.1.6.4 |N-acetylgalactosamine-4-sulfatase activity ; GO:0003943 |hydrolase activity ; GO:0016787 MAP|16q24.3 PHP|Mucopolysaccharidosis IVA CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Galns; score == 916; expect == 0.0; MEOW:MGgn0013830 (85%) |species == rat; score == 509; expect == 2e-144; MEOW:ref|XP_226546.2| (84%) |species == Human; gene == KIAA1001; score == 245; expect == 5.0e-65; MEOW:HUgn0022901 (35%) |species == Human; gene == ARSA; score == 244; expect == 8.5e-65; MEOW:HUgn0000410 (36%) |species == Mosquito; score == 175; expect == 6.8e-44; MEOW:AGgn0029647 (30%) |species == Mosquito; gene == LOC15642; score == 172; expect == 5.3e-43; MEOW:AGgn0015642 (29%) |species == Fruitfly; gene == CG8646; score == 168; expect == 6.5e-42; MEOW:FBgn0033763 (27%) |species == Fruitfly; gene == CG32191; score == 161; expect == 1.0e-39; MEOW:FBgn0052191 (30%) |species == Mosquito; gene == LOC18435; score == 151; expect == 1.3e-36; MEOW:AGgn0018435 (28%) |species == ecoli; score == 141; expect == 1.1e-33; MEOW:ref|NP_416015.1| (30%) |species == Worm; gene == D1014.1; score == 140; expect == 1.4e-33; MEOW:CEgn0007296 (33%) |species == ecoli; score == 135; expect == 6.0e-32; MEOW:ref|NP_418245.1| (27%) } # EOR GENR { RETE|ID 1 HUgn0002589 CHR 1 18 DID 1 LocusLink:2589 MAP 1 18q12.1 NAM 1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) ORG 1 Homo sapiens SYM 1 GALNT1 ID|HUgn0002589 DID|LocusLink:2589 ORG|Homo sapiens RSQ|REFSEQ:NM_020474 RPA|REFPROT:NP_065207 DBA|XM:NM_020474 |NA:S82597 |NA:Y10343 |NA:U41514 |NA:X85018 |NA:none |NA:AP001394 PAC|XP:NP_065207 SYM|GALNT1 NAM|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) SYN|GALNAC-T1 FNC|polypeptide N-acetylgalactosaminyltransferase 1 |O-linked glycosylation ; GO:0006493 |heterophilic cell adhesion ; GO:0007157 REAB|This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide |N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate |mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer |of GalNAc to serine and threonine residues on target proteins. They are characterized |by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain |containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like |domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns |of expression. Transcript variants derived from this gene that utilize alternative |polyA signals have been described in the literature. CHR|18 PRD|GalNAc-T1 |GalNAc transferase 1 |protein-UDP acetylgalactosaminyltransferase 1 |UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=277324 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2589[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4204601 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020474 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020474 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00512 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28536 DBL|UNIGENE:Hs.277324 |OMIM:602273 |SNP:2589 ENZ|EC:2.4.1.41 |polypeptide N-acetylgalactosaminyltransferase activity ; GO:0004653 |sugar binding ; GO:0005529 |transferase activity, transferring glycosyl groups ; GO:0016757 |manganese ion binding ; GO:0030145 MAP|18q12.1 CEL|Golgi apparatus ; GO:0005794 |integral to membrane ; GO:0016021 HG|species == rat; score == 1151; expect == 0.0; MEOW:ref|NP_077349.1| (98%) |species == Mouse; gene == Galnt1; score == 1146; expect == 0.0; MEOW:MGgn0004546 (98%) |species == Human; gene == GALNT13; score == 999; expect == 0.0; MEOW:HUgn0114805 (84%) |species == Mouse; gene == BB182356; score == 977; expect == 0.0; MEOW:MGgn0037640 (79%) |species == Fruitfly; gene == CG9152; score == 701; expect == 0.0; MEOW:FBgn0031681 (65%) |species == Worm; gene == gly-3; score == 569; expect == 1e-162; MEOW:CEgn0000769 (47%) |species == Worm; gene == Y39E4B.12c; score == 497; expect == 5e-141; MEOW:CEgn0030497 (49%) |species == Worm; gene == Y39E4B.12a; score == 496; expect == 7e-141; MEOW:CEgn0030495 (50%) |species == Worm; gene == Y39E4B.12b; score == 489; expect == 1e-138; MEOW:CEgn0030496 (49%) |species == Mosquito; gene == LOC16470; score == 481; expect == 2e-136; MEOW:AGgn0016470 (48%) |species == Mosquito; score == 474; expect == 2e-134; MEOW:AGgn0029676 (48%) |species == Worm; gene == H38K22.5b; score == 472; expect == 1e-133; MEOW:CEgn0030425 (45%) |species == Worm; gene == gly-6; score == 468; expect == 2e-132; MEOW:CEgn0000772 (45%) |species == Mosquito; gene == LOC21852; score == 459; expect == 1e-129; MEOW:AGgn0021852 (53%) |species == Mosquito; score == 436; expect == 1e-122; MEOW:AGgn0006094 (48%) |species == Mosquito; gene == LOC15302; score == 401; expect == 3e-112; MEOW:AGgn0015302 (41%) |species == Mosquito; gene == LOC19085; score == 392; expect == 2e-109; MEOW:AGgn0019085 (42%) } # EOR GENR { RETE|ID 1 HUgn0002590 CHR 1 1 DID 1 LocusLink:2590 MAP 1 1q41-q42 NAM 1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) ORG 1 Homo sapiens SYM 1 GALNT2 ID|HUgn0002590 DID|LocusLink:2590 ORG|Homo sapiens RSQ|REFSEQ:NM_004481 RPA|REFPROT:NP_004472 DBA|XM:NM_004481 |NA:Y10344 |NA:BC041120 |NA:BC050583 |NA:X85019 PAC|XP:NP_004472 SYM|GALNT2 NAM|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) SYN|GalNAc-T2 FNC|polypeptide N-acetylgalactosaminyltransferase 2 |O-linked glycosylation ; GO:0006493 REAB|This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the |GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the |hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide |biosynthesis. Individual GalNAc-transferases have distinct activities and initiation |of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. CHR|1 PRD|UDP-GalNAc transferase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=307582 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2590[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:696223 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004481 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004481 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=307582 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00512 DBL|UNIGENE:Hs.307582 |OMIM:602274 |SNP:2590 ENZ|EC:2.4.1.41 |polypeptide N-acetylgalactosaminyltransferase activity ; GO:0004653 |transferase activity ; GO:0016740 MAP|1q41-q42 HG|species == Mouse; gene == Galnt2; score == 1104; expect == 0.0; MEOW:MGgn0004547 (94%) |species == rat; score == 1074; expect == 0.0; MEOW:ref|XP_238057.2| (94%) |species == Fruitfly; gene == CG3254; score == 634; expect == 0.0; MEOW:FBgn0031530 (67%) |species == Mosquito; score == 627; expect == 3e-180; MEOW:AGgn0006094 (62%) |species == Human; gene == GALNTL1; score == 542; expect == 3e-154; MEOW:HUgn0057452 (49%) |species == Worm; gene == gly-4; score == 502; expect == 2e-142; MEOW:CEgn0000770 (55%) |species == Human; gene == GalNac-T10; score == 490; expect == 7e-139; MEOW:HUgn0079623 (52%) |species == Human; gene == GALNT1; score == 449; expect == 2e-126; MEOW:HUgn0002589 (47%) |species == Human; gene == GALNT13; score == 446; expect == 2e-125; MEOW:HUgn0114805 (47%) |species == Worm; gene == gly-3; score == 413; expect == 1e-115; MEOW:CEgn0000769 (45%) |species == Worm; gene == Y39E4B.12a; score == 402; expect == 1e-112; MEOW:CEgn0030495 (44%) } # EOR GENR { RETE|ID 1 HUgn0002591 CHR 1 2 DID 1 LocusLink:2591 MAP 1 2q24-q31 NAM 1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) ORG 1 Homo sapiens SYM 1 GALNT3 ID|HUgn0002591 DID|LocusLink:2591 ORG|Homo sapiens RSQ|REFSEQ:NM_004482 RPA|REFPROT:NP_004473 DBA|XM:NM_004482 |NA:Y10345 |NA:X92689 PAC|XP:NP_004473 SYM|GALNT3 NAM|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) SYN|GalNAc-T3 FNC|polypeptide N-acetylgalactosaminyltransferase 3 |carbohydrate metabolism ; GO:0005975 REAB|This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. |This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine |or threonine residue in the first step of O-linked oligosaccharide biosynthesis. |Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation |is regulated by a repertoire of GalNAc-transferases. The protein encoded by this |gene is highly homologous to other family members, however the enzymes have different |substrate specificities. CHR|2 PRD|protein-UDP acetylgalactosaminyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278611 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2591[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3801456 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004482 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004482 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00512 DBL|UNIGENE:Hs.278611 |OMIM:601756 |SNP:2591 ENZ|EC:2.4.1.41 |polypeptide N-acetylgalactosaminyltransferase activity ; GO:0004653 |transferase activity ; GO:0016740 MAP|2q24-q31 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Galnt3; score == 1222; expect == 0.0; MEOW:MGgn0004548 (91%) |species == rat; score == 1157; expect == 0.0; MEOW:ref|XP_345361.1| (91%) |species == Human; gene == GALNT6; score == 852; expect == 0.0; MEOW:HUgn0011226 (64%) |species == Worm; gene == Y39E4B.12a; score == 422; expect == 3e-118; MEOW:CEgn0030495 (45%) |species == Worm; gene == Y39E4B.12b; score == 422; expect == 2e-118; MEOW:CEgn0030496 (45%) |species == Worm; gene == Y39E4B.12c; score == 421; expect == 4e-118; MEOW:CEgn0030497 (45%) |species == Mosquito; gene == LOC16470; score == 413; expect == 1e-115; MEOW:AGgn0016470 (45%) |species == Mosquito; score == 413; expect == 1e-115; MEOW:AGgn0029676 (45%) |species == Fruitfly; gene == CG9152; score == 401; expect == 4e-112; MEOW:FBgn0031681 (48%) |species == Fruitfly; gene == CG30463; score == 394; expect == 4e-110; MEOW:FBgn0050463 (42%) |species == Worm; gene == gly-3; score == 370; expect == 1e-102; MEOW:CEgn0000769 (42%) |species == Worm; gene == gly-4; score == 361; expect == 5e-100; MEOW:CEgn0000770 (40%) |species == Mosquito; score == 355; expect == 1.8e-98; MEOW:AGgn0006094 (42%) |species == Worm; gene == gly-6; score == 354; expect == 6.6e-98; MEOW:CEgn0000772 (40%) |species == Worm; gene == H38K22.5b; score == 350; expect == 9.5e-97; MEOW:CEgn0030425 (40%) |species == Worm; gene == Y47D3A.23; score == 347; expect == 1.0e-95; MEOW:CEgn0018854 (39%) |species == Worm; gene == H38K22.5c; score == 347; expect == 8.0e-96; MEOW:CEgn0030426 (48%) |species == Mosquito; gene == LOC21852; score == 344; expect == 4.2e-95; MEOW:AGgn0021852 (50%) |species == Fruitfly; gene == CG4445; score == 335; expect == 3.5e-92; MEOW:FBgn0027558 (48%) |species == Mosquito; gene == LOC15986; score == 332; expect == 2.2e-91; MEOW:AGgn0015986 (39%) |species == Fruitfly; gene == CG3254; score == 332; expect == 2.3e-91; MEOW:FBgn0031530 (42%) |species == Fruitfly; gene == GalNAc-T1; score == 328; expect == 4.3e-90; MEOW:FBgn0034025 (39%) |species == Fruitfly; gene == GalNAc-T2; score == 326; expect == 1.2e-89; MEOW:FBgn0030930 (38%) } # EOR GENR { RETE|ID 1 HUgn0002592 CHR 1 9 DID 1 LocusLink:2592 MAP 1 9p13 NAM 1 galactose-1-phosphate uridylyltransferase ORG 1 Homo sapiens SYM 1 GALT ID|HUgn0002592 DID|LocusLink:2592 ORG|Homo sapiens RSQ|REFSEQ:NM_000155 |REFSEQ:NM_147131 |REFSEQ:NM_147132 RPA|REFPROT:NP_000146 |REFPROT:NP_667342 |REFPROT:NP_667343 DBA|XM:NM_000155 |XM:NM_147131 |XM:NM_147132 |NA:L46359 |NA:L46360 |NA:L46361 |NA:L46362 |NA:L46710 |NA:L46711 |NA:L46712 |NA:L46713 |NA:L46714 |NA:L46715 |NA:L46716 |NA:L46717 |NA:L46723 |NA:L48713 |NA:L48714 |NA:L48717 |NA:L48930 |NA:M96264 |NA:AK096026 |NA:AK096137 |NA:BC015045 |NA:BI910081 |NA:BT009852 |NA:M60091 PAC|XP:NP_000146 |XP:NP_667342 |XP:NP_667343 SYM|GALT NAM|galactose-1-phosphate uridylyltransferase FNC|galactose-1-phosphate uridylyltransferase isoform 1 |galactose-1-phosphate uridylyltransferase isoform 2 |galactose-1-phosphate uridylyltransferase isoform 3 |galactose metabolism ; GO:0006012 REAB|Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the |Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate |to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic |galactosemia in humans and can be fatal in the newborn period if lactose is not |removed from the diet. The pathophysiology of galactosemia has not been clearly |defined. Alternative splicing has been observed at this locus and three transcript |variants, each encoding a distinct isoform, have been identified. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75641 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2592[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119971 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_147131 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_147131 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75641 |http://www.geneclinics.org/query?mim=230400 |http://www.geneclinics.org/query?mim=606999 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00520 |http://www.ich.bris.ac.uk/galtdb/ |http://www.emory.edu/PEDIATRICS/medgen/research/galt.htm DBL|UNIGENE:Hs.75641 |OMIM:606999 |SNP:2592 |UWCM:119971.html ENZ|EC:2.7.7.12 |UTP-hexose-1-phosphate uridylyltransferase activity ; GO:0003982 MAP|9p13 PHP|Galactosemia HG|species == rat; score == 721; expect == 0.0; MEOW:ref|XP_216372.2| (88%) |species == Mouse; gene == Galt; score == 647; expect == 0.0; MEOW:MGgn0004554 (86%) |species == Mosquito; gene == LOC17622; score == 427; expect == 4e-120; MEOW:AGgn0017622 (58%) |species == ecoli; score == 421; expect == 2e-118; MEOW:ref|NP_415279.1| (56%) |species == Fruitfly; gene == CG9232; score == 412; expect == 1e-115; MEOW:FBgn0031845 (57%) |species == Worm; gene == ZK1058.3; score == 364; expect == 3e-101; MEOW:CEgn0021377 (50%) |species == Yeast; gene == GAL7; score == 322; expect == 6.1e-89; MEOW:SGgn0000222 (45%) } # EOR GENR { RETE|ID 1 HUgn0002593 CHR 1 19 DID 1 LocusLink:2593 MAP 1 19p13.3 NAM 1 guanidinoacetate N-methyltransferase ORG 1 Homo sapiens SYM 1 GAMT ID|HUgn0002593 DID|LocusLink:2593 ORG|Homo sapiens RSQ|REFSEQ:NM_000156 |REFSEQ:NM_138924 RPA|REFPROT:NP_000147 |REFPROT:NP_620279 DBA|XM:NM_000156 |XM:NM_138924 |NA:AC005329 |NA:AF010246 |NA:AF010247 |NA:AF010248 |NA:AF188893 |NA:AF086508 |NA:BC016760 |NA:BC017936 |NA:BI914772 |NA:Z49878 |NA:none PAC|XP:NP_000147 |XP:NP_620279 SYM|GAMT NAM|guanidinoacetate N-methyltransferase SYN|PIG2 |TP53I2 FNC|guanidinoacetate N-methyltransferase isoform a |guanidinoacetate N-methyltransferase isoform b |creatine biosynthesis ; GO:0006601 |muscle contraction ; GO:0006936 REAB|The protein encoded by this gene is a methyltransferase that converts guanidoacetate |to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene |have been implicated in neurologic syndromes and muscular hypotonia, probably due |to creatine deficiency and accumulation of guanidinoacetate in the brain of affected |individuals. Two transcript variants encoding different isoforms have been described |for this gene. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81131 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2593[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1313736 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000156 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000156 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81131 |http://www.geneclinics.org/query?mim=601240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.81131 |OMIM:601240 |SNP:2593 |UWCM:1313736.html ENZ|EC:2.1.1.2 |methyltransferase activity ; GO:0008168 |transferase activity ; GO:0016740 |guanidinoacetate N-methyltransferase activity ; GO:0030731 MAP|19p13.3 PHP|GAMT deficiency HG|species == rat; score == 435; expect == 9e-123; MEOW:ref|NP_036925.1| (86%) |species == Mouse; gene == Gamt; score == 421; expect == 2e-118; MEOW:MGgn0004555 (88%) } # EOR GENR { RETE|ID 1 HUgn0002594 CHR 1 11 DID 1 LocusLink:2594 MAP 1 11q13-qter NAM 1 glucosidase, alpha; neutral AB ORG 1 Homo sapiens SYM 1 GANAB ID|HUgn0002594 DID|LocusLink:2594 ORG|Homo sapiens SYM|GANAB NAM|glucosidase, alpha; neutral AB SYN|GluII CHR|11 PRD|Neutral alpha-glucosidase AB DBL|OMIM:104160 MAP|11q13-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119247 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 } # EOR GENR { RETE|ID 1 HUgn0002595 CHR 1 15 DID 1 LocusLink:2595 MAP 1 15q15.2 NAM 1 glucosidase, alpha; neutral C ORG 1 Homo sapiens SYM 1 GANC ID|HUgn0002595 DID|LocusLink:2595 ORG|Homo sapiens DBA|NA:AF525397 |NA:AF545045 |NA:AF545046 |NA:AK074037 |NA:AK074330 |NA:AK097401 |NA:BC059406 SYM|GANC NAM|glucosidase, alpha; neutral C CHR|15 PRD|neutral alpha-glucosidase C URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439343 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119248 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AK074037 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AK074037 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439343 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00052 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.439343 |OMIM:104180 |SNP:2595 MAP|15q15.2 FNC|carbohydrate metabolism ; GO:0005975 ENZ|hydrolase activity, hydrolyzing O-glycosyl compounds ; GO:0004553 HG|species == rat; score == 1452; expect == 0.0; MEOW:ref|XP_230491.2| (80%) |species == Mouse; gene == 5830445O15Rik; score == 1199; expect == 0.0; MEOW:MGgn0026176 (85%) |species == Human; gene == G2AN; score == 953; expect == 0.0; MEOW:HUgn0023193 (49%) |species == Weed; gene == At5g63840; score == 764; expect == 0.0; MEOW:ATgn0023379 (42%) |species == rice; score == 760; expect == 0.0; MEOW:gnl|TIGR|8360.m01014 (42%) |species == Fruitfly; gene == CG14476; score == 744; expect == 0.0; MEOW:FBgn0027588 (43%) |species == Mosquito; gene == LOC10269; score == 727; expect == 0.0; MEOW:AGgn0010269 (39%) |species == Worm; gene == F52D1.1; score == 714; expect == 0.0; MEOW:CEgn0011469 (40%) |species == Worm; gene == F40F9.6b; score == 710; expect == 0.0; MEOW:CEgn0010471 (40%) |species == Worm; gene == F40F9.6a; score == 706; expect == 0.0; MEOW:CEgn0010470 (40%) |species == Yeast; gene == ROT2; score == 524; expect == 2e-149; MEOW:SGgn0000433 (37%) |species == ecoli; score == 157; expect == 3.9e-39; MEOW:ref|NP_418113.1| (27%) } # EOR GENR { RETE|ID 1 HUgn0002596 CHR 1 3 DID 1 LocusLink:2596 MAP 1 3q13.1-q13.2 NAM 1 growth associated protein 43 ORG 1 Homo sapiens SYM 1 GAP43 ID|HUgn0002596 DID|LocusLink:2596 ORG|Homo sapiens RSQ|REFSEQ:NM_002045 RPA|REFPROT:NP_002036 DBA|XM:NM_002045 |NA:S66533 |NA:S66534 |NA:X84309 |NA:AF279774 |NA:AK123311 |NA:BC007936 |NA:BX648458 |NA:M25667 |NA:none PAC|XP:NP_002036 SYM|GAP43 NAM|growth associated protein 43 SYN|B-50 |PP46 FNC|growth associated protein 43 |response to wounding ; GO:0009611 |protein kinase C activation ; GO:0007205 |neurogenesis ; GO:0007399 |regulation of cell growth ; GO:0001558 |regulation of growth ; GO:0040008 REAB|The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein |because it is expressed at high levels in neuronal growth cones during development |and axonal regeneration. This encoded protein is considered a crucial component |of an effective regenerative response in the nervous system. CHR|3 PRD|protein F1 |neuromodulin |neural phosphoprotein B-50 |axonal membrane protein GAP-43 |calmodulin-binding protein P-57 |nerve growth-related peptide GAP43 |neuron growth-associated protein 43 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=79000 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2596[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119972 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002045 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002045 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=79000 DBL|UNIGENE:Hs.79000 |OMIM:162060 |SNP:2596 MAP|3q13.1-q13.2 ENZ|calmodulin binding ; GO:0005516 CEL|membrane ; GO:0016020 HG|species == Mouse; gene == Gap43; score == 238; expect == 1.8e-63; MEOW:MGgn0004556 (71%) |species == rat; score == 236; expect == 1.1e-62; MEOW:ref|NP_058891.1| (69%) } # EOR GENR { RETE|ID 1 HUgn0002597 CHR 1 12 DID 1 LocusLink:2597 MAP 1 12p13 NAM 1 glyceraldehyde-3-phosphate dehydrogenase ORG 1 Homo sapiens SYM 1 GAPD ID|HUgn0002597 DID|LocusLink:2597 ORG|Homo sapiens RSQ|REFSEQ:NM_002046 RPA|REFPROT:NP_002037 DBA|XM:NM_002046 |NA:J04038 |NA:AB062273 |NA:AF261085 |NA:AK026525 |NA:AY007133 |NA:BC001601 |NA:BC004109 |NA:BC009081 |NA:BC013310 |NA:BC013852 |NA:BC014085 |NA:BC020308 |NA:BC023632 |NA:BC025925 |NA:BC026907 |NA:BC029340 |NA:BC029618 |NA:BT006893 |NA:J02642 |NA:M17851 |NA:M33197 |NA:X01677 |NA:X53778 |NA:none PAC|XP:NP_002037 SYM|GAPD NAM|glyceraldehyde-3-phosphate dehydrogenase SYN|G3PD |GAPDH FNC|glyceraldehyde-3-phosphate dehydrogenase |glycolysis ; GO:0006096 REAB|Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step |in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate |in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). |The enzyme exists as a tetramer of identical chains. A GAPD pseudogene has been |mapped to Xp21-p11 and 15 GAPD-like loci have been identified. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169476 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2597[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119249 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002046 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002046 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169476 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=01510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00472 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05050 DBL|UNIGENE:Hs.169476 |OMIM:138400 |SNP:2597 ENZ|EC:1.2.1.12 |glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity ; GO:0004365 |oxidoreductase activity ; GO:0016491 MAP|12p13 CEL|cytoplasm ; GO:0005737 HG|species == rat; score == 631; expect == 0.0; MEOW:ref|XP_216453.1| (94%) |species == Mouse; gene == Gapd; score == 630; expect == 0.0; MEOW:MGgn0004557 (94%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|XP_214281.2| (88%) |species == rat; score == 581; expect == 2e-166; MEOW:ref|XP_214287.2| (88%) |species == rat; score == 578; expect == 1e-165; MEOW:ref|XP_223741.2| (88%) |species == rat; score == 571; expect == 2e-163; MEOW:ref|XP_215252.2| (86%) |species == rat; score == 568; expect == 1e-162; MEOW:ref|XP_224528.2| (85%) |species == rat; score == 567; expect == 4e-162; MEOW:ref|XP_221353.2| (86%) |species == rat; score == 560; expect == 5e-160; MEOW:ref|XP_234911.2| (84%) |species == rat; score == 556; expect == 6e-159; MEOW:ref|XP_222600.2| (84%) |species == rat; score == 555; expect == 1e-158; MEOW:ref|XP_237274.2| (84%) |species == rat; score == 552; expect == 1e-157; MEOW:ref|XP_234405.2| (84%) |species == rat; score == 552; expect == 1e-157; MEOW:ref|XP_237330.2| (84%) |species == rat; score == 550; expect == 4e-157; MEOW:ref|XP_213945.2| (83%) |species == rat; score == 546; expect == 8e-156; MEOW:ref|XP_228478.2| (83%) |species == rat; score == 545; expect == 1e-155; MEOW:ref|XP_214546.2| (83%) |species == rat; score == 545; expect == 1e-155; MEOW:ref|XP_224464.2| (86%) |species == rat; score == 545; expect == 1e-155; MEOW:ref|XP_227659.1| (82%) |species == Human; gene == LOC346085; score == 544; expect == 2e-155; MEOW:HUgn0346085 (86%) |species == rat; score == 544; expect == 3e-155; MEOW:ref|XP_234037.2| (84%) |species == rat; score == 534; expect == 2e-152; MEOW:ref|XP_228193.2| (83%) |species == rat; score == 532; expect == 1e-151; MEOW:ref|XP_232181.2| (81%) |species == rat; score == 529; expect == 1e-150; MEOW:ref|XP_230014.2| (83%) |species == rat; score == 527; expect == 3e-150; MEOW:ref|XP_219822.2| (86%) |species == rat; score == 525; expect == 1e-149; MEOW:ref|XP_213595.2| (83%) |species == rat; score == 525; expect == 9e-150; MEOW:ref|XP_215798.2| (82%) |species == rat; score == 523; expect == 3e-149; MEOW:ref|XP_213991.2| (89%) |species == rat; score == 522; expect == 9e-149; MEOW:ref|XP_218807.2| (82%) |species == rat; score == 518; expect == 2e-147; MEOW:ref|XP_219750.2| (81%) |species == rat; score == 517; expect == 3e-147; MEOW:ref|XP_228217.2| (81%) |species == Fruitfly; gene == Gapdh1; score == 516; expect == 4e-147; MEOW:FBgn0001091 (76%) |species == Fruitfly; gene == Gapdh2; score == 516; expect == 5e-147; MEOW:FBgn0001092 (76%) |species == rat; score == 516; expect == 8e-147; MEOW:ref|XP_234091.2| (79%) |species == Worm; gene == gpd-2; score == 515; expect == 1e-146; MEOW:CEgn0000812 (75%) |species == Worm; gene == gpd-3; score == 515; expect == 1e-146; MEOW:CEgn0000813 (75%) |species == rat; score == 513; expect == 7e-146; MEOW:ref|XP_220863.2| (79%) |species == Mosquito; score == 512; expect == 5e-146; MEOW:AGgn0010360 (76%) |species == rat; score == 511; expect == 2e-145; MEOW:ref|XP_225871.2| (79%) |species == Worm; gene == gpd-1; score == 500; expect == 3e-142; MEOW:CEgn0000811 (72%) |species == Worm; gene == gpd-4; score == 499; expect == 1e-141; MEOW:CEgn0000814 (72%) |species == rice; score == 489; expect == 2e-138; MEOW:gnl|TIGR|8351.m00661 (71%) |species == rice; score == 486; expect == 1e-137; MEOW:gnl|TIGR|8354.m04262 (71%) |species == Weed; gene == At1g79530; score == 484; expect == 4e-137; MEOW:ATgn0005815 (70%) |species == Weed; gene == At1g16300; score == 478; expect == 2e-135; MEOW:ATgn0004857 (69%) |species == rice; score == 467; expect == 8e-132; MEOW:gnl|TIGR|8356.m00222 (64%) |species == Human; gene == GAPDS; score == 464; expect == 4e-131; MEOW:HUgn0026330 (68%) |species == Weed; gene == At1g13440; score == 458; expect == 2e-129; MEOW:ATgn0001806 (67%) |species == Weed; gene == At3g04120; score == 458; expect == 3e-129; MEOW:ATgn0014522 (68%) |species == rice; score == 444; expect == 9e-125; MEOW:gnl|TIGR|8352.m03750 (60%) |species == Yeast; gene == TDH3; score == 443; expect == 2e-125; MEOW:SGgn0003424 (65%) |species == ecoli; score == 442; expect == 2e-125; MEOW:ref|NP_416293.1| (66%) |species == Yeast; gene == TDH2; score == 438; expect == 2e-123; MEOW:SGgn0003769 (64%) |species == Yeast; gene == TDH1; score == 437; expect == 1e-123; MEOW:SGgn0003588 (64%) |species == rice; score == 437; expect == 1e-122; MEOW:gnl|TIGR|8351.m03677 (65%) |species == Fruitfly; gene == CG9010; score == 433; expect == 4e-122; MEOW:FBgn0034173 (66%) } # EOR GENR { RETE|ID 1 HUgn0002598 CHR 1 1 DID 1 LocusLink:2598 MAP 1 1 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 1 ORG 1 Homo sapiens SYM 1 GAPDL1 ID|HUgn0002598 DID|LocusLink:2598 ORG|Homo sapiens SYM|GAPDL1 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 1 CHR|1 MAP|1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119973 } # EOR GENR { RETE|ID 1 HUgn0002599 CHR 1 X DID 1 LocusLink:2599 MAP 1 Xpter-q13 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 2 ORG 1 Homo sapiens SYM 1 GAPDL2 ID|HUgn0002599 DID|LocusLink:2599 ORG|Homo sapiens SYM|GAPDL2 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 2 CHR|X MAP|Xpter-q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119254 } # EOR GENR { RETE|ID 1 HUgn0002600 CHR 1 2 DID 1 LocusLink:2600 MAP 1 2q NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 3 ORG 1 Homo sapiens SYM 1 GAPDL3 ID|HUgn0002600 DID|LocusLink:2600 ORG|Homo sapiens SYM|GAPDL3 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 3 CHR|2 MAP|2q URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119255 } # EOR GENR { RETE|ID 1 HUgn0002601 CHR 1 4 DID 1 LocusLink:2601 MAP 1 4q22.1 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 4 ORG 1 Homo sapiens SYM 1 GAPDL4 ID|HUgn0002601 DID|LocusLink:2601 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC092658 SYM|GAPDL4 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 4 CHR|4 MAP|4q22.1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119256 } # EOR GENR { RETE|ID 1 HUgn0002603 CHR 1 15 DID 1 LocusLink:2603 MAP 1 15 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 6 ORG 1 Homo sapiens SYM 1 GAPDL6 ID|HUgn0002603 DID|LocusLink:2603 ORG|Homo sapiens SYM|GAPDL6 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 6 CHR|15 MAP|15 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119977 } # EOR GENR { RETE|ID 1 HUgn0002604 CHR 1 8 DID 1 LocusLink:2604 MAP 1 8 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 7 ORG 1 Homo sapiens SYM 1 GAPDL7 ID|HUgn0002604 DID|LocusLink:2604 ORG|Homo sapiens SYM|GAPDL7 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 7 CHR|8 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119258 } # EOR GENR { RETE|ID 1 HUgn0002605 CHR 1 6 DID 1 LocusLink:2605 MAP 1 6p21-qter NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 8 ORG 1 Homo sapiens SYM 1 GAPDL8 ID|HUgn0002605 DID|LocusLink:2605 ORG|Homo sapiens SYM|GAPDL8 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 8 CHR|6 MAP|6p21-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119259 } # EOR GENR { RETE|ID 1 HUgn0002606 CHR 1 1 DID 1 LocusLink:2606 MAP 1 1 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 9 ORG 1 Homo sapiens SYM 1 GAPDL9 ID|HUgn0002606 DID|LocusLink:2606 ORG|Homo sapiens SYM|GAPDL9 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 9 CHR|1 MAP|1 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119978 } # EOR GENR { RETE|ID 1 HUgn0002607 CHR 1 X DID 1 LocusLink:2607 MAP 1 Xpter-q13 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 10 ORG 1 Homo sapiens SYM 1 GAPDL10 ID|HUgn0002607 DID|LocusLink:2607 ORG|Homo sapiens SYM|GAPDL10 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 10 CHR|X MAP|Xpter-q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119974 } # EOR GENR { RETE|ID 1 HUgn0002608 CHR 1 18 DID 1 LocusLink:2608 MAP 1 18 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 11 ORG 1 Homo sapiens SYM 1 GAPDL11 ID|HUgn0002608 DID|LocusLink:2608 ORG|Homo sapiens SYM|GAPDL11 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 11 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119250 } # EOR GENR { RETE|ID 1 HUgn0002609 CHR 1 X DID 1 LocusLink:2609 MAP 1 Xq13-qter NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 12 ORG 1 Homo sapiens SYM 1 GAPDL12 ID|HUgn0002609 DID|LocusLink:2609 ORG|Homo sapiens SYM|GAPDL12 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 12 CHR|X MAP|Xq13-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119251 } # EOR GENR { RETE|ID 1 HUgn0002610 CHR 1 7 DID 1 LocusLink:2610 MAP 1 7 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 13 ORG 1 Homo sapiens SYM 1 GAPDL13 ID|HUgn0002610 DID|LocusLink:2610 ORG|Homo sapiens SYM|GAPDL13 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 13 CHR|7 MAP|7 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119252 } # EOR GENR { RETE|ID 1 HUgn0002611 CHR 1 13 DID 1 LocusLink:2611 MAP 1 13q12 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 14 ORG 1 Homo sapiens SYM 1 GAPDL14 ID|HUgn0002611 DID|LocusLink:2611 ORG|Homo sapiens SYM|GAPDL14 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 14 CHR|13 MAP|13q12 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119975 } # EOR GENR { RETE|ID 1 HUgn0002612 CHR 1 11 DID 1 LocusLink:2612 MAP 1 11 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 15 ORG 1 Homo sapiens SYM 1 GAPDL15 ID|HUgn0002612 DID|LocusLink:2612 ORG|Homo sapiens SYM|GAPDL15 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 15 CHR|11 MAP|11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119976 } # EOR GENR { RETE|ID 1 HUgn0002613 CHR 1 5 DID 1 LocusLink:2613 MAP 1 5q35.2 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 16 ORG 1 Homo sapiens SYM 1 GAPDL16 ID|HUgn0002613 DID|LocusLink:2613 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC108112 SYM|GAPDL16 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 16 CHR|5 MAP|5q35.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119253 } # EOR GENR { RETE|ID 1 HUgn0002614 DID 1 LocusLink:2614 NAM 1 glyceraldehyde-3-phosphate dehydrogenase-like 17 ORG 1 Homo sapiens SYM 1 GAPDL17 ID|HUgn0002614 DID|LocusLink:2614 ORG|Homo sapiens SYM|GAPDL17 NAM|glyceraldehyde-3-phosphate dehydrogenase-like 17 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:4559296 } # EOR GENR { RETE|ID 1 HUgn0002615 CHR 1 11 DID 1 LocusLink:2615 MAP 1 11q13.5-q14 NAM 1 glycoprotein A repetitions predominant ORG 1 Homo sapiens SYM 1 GARP ID|HUgn0002615 DID|LocusLink:2615 ORG|Homo sapiens RSQ|REFSEQ:NM_005512 RPA|REFPROT:NP_005503 DBA|XM:NM_005512 |NA:BC052210 |NA:Z24680 |NA:none PAC|XP:NP_005503 SYM|GARP NAM|glycoprotein A repetitions predominant SYN|D11S833E FNC|glycoprotein A repetitions predominant precursor REAB|GARP encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations |in the chromosomal region 11q13-11q14 are involved in several pathologies. The FGF |and TYR genes are also located in this region. CHR|11 PRD|garpin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=151641 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2615[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005512 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005512 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=151641 DBL|UNIGENE:Hs.151641 |OMIM:137207 |SNP:2615 MAP|11q13.5-q14 HG|species == rat; score == 1005; expect == 0.0; MEOW:ref|XP_218947.2| (80%) |species == Human; gene == LOC375387; score == 307; expect == 1.1e-83; MEOW:HUgn0375387 (37%) |species == Mouse; gene == E430025L02Rik; score == 295; expect == 3.6e-80; MEOW:MGgn0043861 (35%) |species == Fruitfly; gene == CG7896; score == 151; expect == 2.3e-36; MEOW:FBgn0039728 (27%) |species == Fruitfly; gene == CG5195; score == 147; expect == 1.4e-35; MEOW:FBgn0036995 (26%) |species == Mosquito; score == 142; expect == 2.6e-34; MEOW:AGgn0006849 (27%) |species == Mosquito; gene == LOC15265; score == 141; expect == 2.2e-33; MEOW:AGgn0015265 (27%) |species == Worm; gene == T21D12.9a; score == 140; expect == 3.2e-33; MEOW:CEgn0016562 (27%) |species == Worm; gene == T21D12.9c; score == 140; expect == 2.6e-33; MEOW:CEgn0029662 (27%) } # EOR GENR { RETE|ID 1 HUgn0002616 CHR 1 X DID 1 LocusLink:2616 MAP 1 Xp11.4-p11.23 NAM 1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 ORG 1 Homo sapiens SYM 1 GAPDP1 ID|HUgn0002616 DID|LocusLink:2616 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M26873 SYM|GAPDP1 NAM|glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 CHR|X MAP|Xp11.4-p11.23 DBL|SNP:2616 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119260 } # EOR GENR { RETE|ID 1 HUgn0002617 CHR 1 7 DID 1 LocusLink:2617 MAP 1 7p15 NAM 1 glycyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 GARS ID|HUgn0002617 DID|LocusLink:2617 ORG|Homo sapiens RSQ|REFSEQ:NM_002047 RPA|REFPROT:NP_002038 DBA|XM:NM_002047 |XM:NM_002047 |NA:AC004976 |NA:AC005154 |NA:AK074524 |NA:BC000065 |NA:BC007722 |NA:BC007755 |NA:D30658 |NA:U09510 |NA:U09587 |NA:none PAC|XP:NP_002038 |XP:NP_002038 SYM|GARS NAM|glycyl-tRNA synthetase SYN|CMT2D |SMAD1 FNC|glycyl-tRNA synthetase |glycyl-tRNA aminoacylation ; GO:0006426 REAB|Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate |amino acids. Glycyl-tRNA synthetase is an (alpha)2 dimer which belongs to the class |II family of tRNA synthetases. It has been shown to be a target of autoantibodies |in the human autoimmune diseases, polymyositis or dermatomyositis. CHR|7 PRD|GlyRS |glycine tRNA ligase |Charcot-Marie-Tooth neuropathy, neuronal type, D URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=293885 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2617[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:455231 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9953232 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002047 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002047 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=293885 |http://www.geneclinics.org/query?mim=601472 |http://www.geneclinics.org/query?mim=600287 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.293885 |OMIM:600287 |SNP:2617 ENZ|EC:6.1.1.14 |glycine-tRNA ligase activity ; GO:0004820 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|7p15 PHP|Charcot-Marie-Tooth disease, type 2D |Spinal muscular atrophy, distal, type V CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 1322; expect == 0.0; MEOW:ref|XP_216152.2| (95%) |species == Mouse; gene == Gars; score == 1319; expect == 0.0; MEOW:MGgn0044013 (95%) |species == Mosquito; score == 880; expect == 0.0; MEOW:AGgn0026324 (64%) |species == Fruitfly; gene == Aats-gly; score == 835; expect == 0.0; MEOW:FBgn0027088 (60%) |species == Worm; gene == grs-1; score == 804; expect == 0.0; MEOW:CEgn0030960 (57%) |species == Mosquito; gene == LOC24166; score == 763; expect == 0.0; MEOW:AGgn0024166 (64%) |species == Weed; gene == At1g29880; score == 656; expect == 0.0; MEOW:ATgn0006294 (50%) |species == rice; score == 651; expect == 0.0; MEOW:gnl|TIGR|8356.m04146 (50%) |species == rice; score == 607; expect == 2e-173; MEOW:gnl|TIGR|8352.m03028 (49%) |species == Yeast; gene == GRS1; score == 599; expect == 7e-172; MEOW:SGgn0000325 (47%) |species == Yeast; gene == GRS2; score == 590; expect == 2e-169; MEOW:SGgn0006285 (49%) } # EOR GENR { RETE|ID 1 HUgn0002618 CHR 1 21 DID 1 LocusLink:2618 MAP 1 21q22.1 NAM 1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ORG 1 Homo sapiens SYM 1 GART ID|HUgn0002618 DID|LocusLink:2618 ORG|Homo sapiens RSQ|REFSEQ:NM_000819 |REFSEQ:NM_175085 RPA|REFPROT:NP_000810 |REFPROT:NP_780294 DBA|XM:NM_000819 |XM:NM_175085 |NA:AF008653 |NA:AF008654 |NA:AF008655 |NA:BC038958 |NA:BX648124 |NA:D32051 |NA:M32082 |NA:X54199 PAC|XP:NP_000810 |XP:NP_780294 SYM|GART NAM|phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase SYN|AIRS |GARS |PAIS |PGFT |PRGS |GARTF |MGC47764 FNC|phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase isoform 1 |phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase isoform 2 REAB|The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide |formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole |synthetase activity which is required for de novo purine biosynthesis. This enzyme |is highly conserved in vertebrates. Alternative splicing of this gene results in |two transcript variants encoding different isoforms. CHR|21 PRD|trifunctional purine biosynthetic protein adenosine-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=82285 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2618[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119487 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000819 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000819 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=82285 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00670 DBL|UNIGENE:Hs.82285 |OMIM:138440 |SNP:2618 ENZ|EC:2.1.2.2 |EC:6.3.3.1 |EC:6.3.4.13 |phosphoribosylglycinamide formyltransferase activity ; GO:0004644 MAP|21q22.1 HG|species == rat; score == 1730; expect == 0.0; MEOW:ref|XP_213651.2| (86%) |species == Mouse; gene == Gart; score == 1709; expect == 0.0; MEOW:MGgn0004574 (85%) |species == Zfish; gene == gart; score == 1336; expect == 0.0; MEOW:ZFgn0000909 (66%) |species == Mosquito; gene == LOC15750; score == 747; expect == 0.0; MEOW:AGgn0015750 (52%) |species == Worm; gene == F38B6.4; score == 747; expect == 0.0; MEOW:CEgn0010299 (43%) |species == Yeast; gene == ADE5,7; score == 677; expect == 0.0; MEOW:SGgn0003203 (45%) |species == Fruitfly; gene == ade3; score == 655; expect == 0.0; MEOW:FBgn0000053 (47%) |species == ecoli; score == 403; expect == 3e-113; MEOW:ref|NP_418433.1| (51%) |species == rice; score == 360; expect == 5.0e-99; MEOW:gnl|TIGR|8356.m00871 (45%) |species == rice; score == 357; expect == 3.2e-98; MEOW:gnl|TIGR|8359.m00864 (45%) |species == Weed; gene == At1g09830; score == 354; expect == 2.1e-97; MEOW:ATgn0003949 (45%) |species == rice; score == 313; expect == 8.1e-86; MEOW:gnl|TIGR|8360.m05568 (50%) |species == Weed; gene == At3g55010; score == 299; expect == 1.5e-81; MEOW:ATgn0014155 (47%) } # EOR GENR { RETE|ID 1 HUgn0002619 CHR 1 9 DID 1 LocusLink:2619 MAP 1 9q21.3-q22 NAM 1 growth arrest-specific 1 ORG 1 Homo sapiens SYM 1 GAS1 ID|HUgn0002619 DID|LocusLink:2619 ORG|Homo sapiens RSQ|REFSEQ:NM_002048 RPA|REFPROT:NP_002039 DBA|XM:NM_002048 |NA:L13698 |NA:none PAC|XP:NP_002039 SYM|GAS1 NAM|growth arrest-specific 1 FNC|growth arrest-specific 1 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |negative regulation of S phase of mitotic cell cycle ; GO:0045749 REAB|Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to |S phase and prevents cycling of normal and transformed cells. Gas1 is a putative |tumor suppressor gene. CHR|9 PRD|Growth arrest-specific gene-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=65029 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2619[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:141574 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002048 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002048 DBL|UNIGENE:Hs.65029 |OMIM:139185 |SNP:2619 MAP|9q21.3-q22 ENZ|molecular_function unknown ; GO:0005554 CEL|extrinsic to plasma membrane, GPI-anchored ; GO:0046658 HG|species == Mouse; gene == Gas1; score == 382; expect == 1e-106; MEOW:MGgn0004575 (84%) } # EOR GENR { RETE|ID 1 HUgn0002620 CHR 1 11 DID 1 LocusLink:2620 MAP 1 11p14.3-p15.2 NAM 1 growth arrest-specific 2 ORG 1 Homo sapiens SYM 1 GAS2 ID|HUgn0002620 DID|LocusLink:2620 ORG|Homo sapiens RSQ|REFSEQ:NM_005256 |REFSEQ:NM_177553 RPA|REFPROT:NP_005247 |REFPROT:NP_808221 DBA|XM:NM_005256 |XM:NM_177553 |NA:BC013326 |NA:BC040470 |NA:U95032 |NA:none PAC|XP:NP_005247 |XP:NP_808221 SYM|GAS2 NAM|growth arrest-specific 2 SYN|MGC32610 FNC|growth arrest-specific 2 |cell cycle arrest ; GO:0007050 |cell growth and/or maintenance ; GO:0008151 |cell cycle ; GO:0007049 |apoptosis ; GO:0006915 REAB|The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating |microfilament and cell shape changes during apoptosis. It can also modulate cell |susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Two alternatively |spliced transcript variants encoding the same protein have been described for this |gene. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=135665 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2620[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6860464 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_177553 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_177553 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=135665 DBL|UNIGENE:Hs.135665 |OMIM:602835 |SNP:2620 MAP|11p14.3-p15.2 CEL|actin filament ; GO:0005884 |cytoskeleton ; GO:0005856 HG|species == Mouse; gene == Gas2; score == 561; expect == 1e-160; MEOW:MGgn0004577 (97%) |species == Human; gene == LOC283431; score == 315; expect == 4.2e-86; MEOW:HUgn0283431 (56%) |species == rat; score == 244; expect == 4.5e-65; MEOW:ref|XP_218683.2| (87%) } # EOR GENR { RETE|ID 1 HUgn0002621 CHR 1 13 DID 1 LocusLink:2621 MAP 1 13q34 NAM 1 growth arrest-specific 6 ORG 1 Homo sapiens SYM 1 GAS6 ID|HUgn0002621 DID|LocusLink:2621 ORG|Homo sapiens RSQ|REFSEQ:NM_000820 RPA|REFPROT:NP_000811 DBA|XM:NM_000820 |NA:AK122969 |NA:AK126533 |NA:BC030708 |NA:BC038984 |NA:L13720 PAC|XP:NP_000811 SYM|GAS6 NAM|growth arrest-specific 6 SYN|AXSF |AXLLG FNC|growth arrest-specific 6 |cell proliferation ; GO:0008283 |signal transduction ; GO:0007165 REAB|GAS6 is a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation CHR|13 PRD|AXL stimulatory factor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437710 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2621[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:269726 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000820 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000820 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437710 DBL|UNIGENE:Hs.437710 |OMIM:600441 |SNP:2621 MAP|13q34 ENZ|receptor binding ; GO:0005102 |calcium ion binding ; GO:0005509 CEL|extracellular ; GO:0005576 HG|species == rat; score == 1106; expect == 0.0; MEOW:ref|NP_476441.1| (84%) |species == Mouse; gene == Gas6; score == 1091; expect == 0.0; MEOW:MGgn0004580 (82%) |species == Human; gene == PROS1; score == 586; expect == 2e-167; MEOW:HUgn0005627 (44%) } # EOR GENR { RETE|ID 1 HUgn0002622 CHR 1 16 DID 1 LocusLink:2622 MAP 1 16q24.3 NAM 1 growth arrest-specific 8 ORG 1 Homo sapiens SYM 1 GAS8 ID|HUgn0002622 DID|LocusLink:2622 ORG|Homo sapiens RSQ|REFSEQ:NM_001481 RPA|REFPROT:NP_001472 DBA|XM:NM_001481 |NA:AF050068 |NA:AF050069 |NA:AF050070 |NA:AF050071 |NA:AF050072 |NA:AF050073 |NA:AF050074 |NA:AF050075 |NA:AF050076 |NA:AF050077 |NA:AF050078 |NA:AF050079 |NA:BC036781 |NA:BX647947 PAC|XP:NP_001472 SYM|GAS8 NAM|growth arrest-specific 8 SYN|GAS11 FNC|growth arrest-specific 8 |negative regulation of cell proliferation ; GO:0008285 |sperm motility ; GO:0030317 REAB|This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 |that is sometimes deleted in breast and prostrate cancer. The second intron contains |an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. |This gene is a putative tumor suppressor gene. CHR|16 PRD|growth arrest specific 11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=431792 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2622[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836118 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001481 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001481 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=431792 DBL|UNIGENE:Hs.431792 |OMIM:605178 |SNP:2622 MAP|16q24.3 ENZ|molecular_function unknown ; GO:0005554 CEL|microtubule ; GO:0005874 |cytoskeleton ; GO:0005856 |flagellum (sensu Eukarya) ; GO:0009434 HG|species == Mouse; gene == Gas8; score == 765; expect == 0.0; MEOW:MGgn0004582 (88%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_341717.1| (90%) |species == Fruitfly; gene == Gas8; score == 356; expect == 1.4e-98; MEOW:FBgn0029667 (43%) } # EOR GENR { RETE|ID 1 HUgn0002623 CHR 1 X DID 1 LocusLink:2623 MAP 1 Xp11.23 NAM 1 GATA binding protein 1 (globin transcription factor 1) ORG 1 Homo sapiens SYM 1 GATA1 ID|HUgn0002623 DID|LocusLink:2623 ORG|Homo sapiens RSQ|REFSEQ:NM_002049 RPA|REFPROT:NP_002040 DBA|XM:NM_002049 |NA:AF196971 |NA:AI057349 |NA:BC009797 |NA:M30601 |NA:X17254 PAC|XP:NP_002040 SYM|GATA1 NAM|GATA binding protein 1 (globin transcription factor 1) SYN|GF1 |NFE1 |ERYF1 FNC|GATA binding protein 1 |development ; GO:0007275 |regulation of transcription from Pol II promoter ; GO:0006357 REAB|This gene encodes a protein which belongs to the GATA family of transcription factors. |The protein plays an important role in erythroid development by regulating the switch |of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated |with X-linked dyserythropoietic anemia and thrombocytopenia. CHR|X PRD|transcription factor GATA1 |globin transcription factor 1 |erythrold transcription factor 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=765 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2623[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125373 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002049 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002049 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=765 DBL|UNIGENE:Hs.765 |OMIM:305371 |SNP:2623 |UWCM:125373.html |IXDB:535801 MAP|Xp11.23 PHP|Dyserythropoietic anemia with thrombocytopenia, 300367Macrothrombocytopenia |Leukemia, megakaryoglastic, of Down syndrome ENZ|transcription activating factor ; GO:0003710 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 556; expect == 1e-158; MEOW:ref|NP_036896.1| (86%) |species == Mouse; gene == Gata1; score == 540; expect == 5e-154; MEOW:MGgn0004586 (85%) |species == Zfish; gene == gata1; score == 272; expect == 2.2e-73; MEOW:ZFgn0000070 (46%) |species == Human; gene == GATA2; score == 214; expect == 6.5e-56; MEOW:HUgn0002624 (62%) |species == Human; gene == GATA3; score == 203; expect == 1.8e-52; MEOW:HUgn0002625 (77%) |species == Human; gene == GATA4; score == 198; expect == 4.4e-51; MEOW:HUgn0002626 (71%) |species == Fruitfly; gene == grn; score == 196; expect == 3.2e-50; MEOW:FBgn0001138 (80%) |species == Mosquito; score == 194; expect == 7.2e-50; MEOW:AGgn0006261 (52%) |species == Fruitfly; gene == pnr; score == 193; expect == 3.1e-49; MEOW:FBgn0003117 (77%) |species == Human; gene == GATA6; score == 192; expect == 4.2e-49; MEOW:HUgn0002627 (46%) |species == Mosquito; score == 183; expect == 1.9e-46; MEOW:AGgn0021653 (70%) |species == Worm; gene == elt-1; score == 181; expect == 5.7e-46; MEOW:CEgn0000538 (68%) |species == Mosquito; gene == LOC21808; score == 180; expect == 1.4e-46; MEOW:AGgn0021808 (75%) |species == Human; gene == GATA5; score == 176; expect == 1.6e-44; MEOW:HUgn0140628 (58%) } # EOR GENR { RETE|ID 1 HUgn0002624 CHR 1 3 DID 1 LocusLink:2624 MAP 1 3q21.3 NAM 1 GATA binding protein 2 ORG 1 Homo sapiens SYM 1 GATA2 ID|HUgn0002624 DID|LocusLink:2624 ORG|Homo sapiens RSQ|REFSEQ:NM_032638 RPA|REFPROT:NP_116027 DBA|XM:NM_032638 |NA:AF169253 |NA:BC002557 |NA:BC015577 |NA:BC015613 |NA:BC018988 |NA:BC051272 |NA:BC051342 |NA:BT006671 |NA:BX647499 |NA:M68891 |NA:M77810 |NA:none PAC|XP:NP_116027 SYM|GATA2 NAM|GATA binding protein 2 SYN|NFE1B |MGC2306 FNC|GATA binding protein 2 CHR|3 PRD|GATA-binding protein 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=367725 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2624[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:133757 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_032638 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_032638 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=367725 DBL|UNIGENE:Hs.367725 |OMIM:137295 |SNP:2624 MAP|3q21.3 HG|species == Mouse; gene == Gata2; score == 868; expect == 0.0; MEOW:MGgn0004587 (97%) |species == rat; score == 836; expect == 0.0; MEOW:ref|NP_254277.1| (97%) |species == Zfish; gene == gata3; score == 486; expect == 5e-139; MEOW:ZFgn0000535 (60%) |species == rat; score == 483; expect == 8e-137; MEOW:ref|NP_579827.1| (60%) |species == Human; gene == GATA3; score == 482; expect == 2e-136; MEOW:HUgn0002625 (60%) |species == Mouse; gene == Gata3; score == 477; expect == 4e-135; MEOW:MGgn0004588 (60%) |species == Fruitfly; gene == grn; score == 224; expect == 3.7e-59; MEOW:FBgn0001138 (42%) |species == Fruitfly; gene == pnr; score == 202; expect == 5.0e-52; MEOW:FBgn0003117 (64%) |species == Mosquito; score == 199; expect == 2.9e-51; MEOW:AGgn0006261 (78%) |species == Mosquito; score == 193; expect == 1.4e-49; MEOW:AGgn0021653 (76%) |species == Mosquito; gene == LOC21808; score == 191; expect == 7.7e-50; MEOW:AGgn0021808 (80%) |species == Worm; gene == elt-1; score == 182; expect == 3.3e-46; MEOW:CEgn0000538 (67%) } # EOR GENR { RETE|ID 1 HUgn0002625 CHR 1 10 DID 1 LocusLink:2625 MAP 1 10p15 NAM 1 GATA binding protein 3 ORG 1 Homo sapiens SYM 1 GATA3 ID|HUgn0002625 DID|LocusLink:2625 ORG|Homo sapiens RSQ|REFSEQ:NM_002051 RPA|REFPROT:NP_002042 DBA|XM:NM_002051 |NA:BC003070 |NA:BC006793 |NA:BC006839 |NA:M69106 |NA:X55037 |NA:X55122 |NA:X58072 PAC|XP:NP_002042 SYM|GATA3 NAM|GATA binding protein 3 SYN|HDR |MGC5445 FNC|GATA binding protein 3 |embryogenesis and morphogenesis ; GO:0007345 |defense response ; GO:0006952 |transcription from Pol II promoter ; GO:0006366 CHR|10 PRD|GATA-binding protein 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169946 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2625[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132140 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002051 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002051 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169946 DBL|UNIGENE:Hs.169946 |OMIM:131320 |SNP:2625 MAP|10p15 PHP|Hypoparathyroidism, sensorineural deafness, and renal dysplasia |Member of a GATA family of Zinc-finger transcription factors; involved in T-cell antigen regulation ENZ|DNA binding ; GO:0003677 |transcription activating factor ; GO:0003710 |transcription factor activity ; GO:0003700 HG|species == rat; score == 695; expect == 0.0; MEOW:ref|NP_579827.1| (96%) |species == Mouse; gene == Gata3; score == 691; expect == 0.0; MEOW:MGgn0004588 (96%) |species == Zfish; gene == gata3; score == 582; expect == 2e-166; MEOW:ZFgn0000535 (77%) |species == Human; gene == GATA2; score == 482; expect == 2e-136; MEOW:HUgn0002624 (60%) |species == Fruitfly; gene == grn; score == 214; expect == 3.5e-56; MEOW:FBgn0001138 (86%) |species == Mosquito; score == 196; expect == 2.5e-50; MEOW:AGgn0006261 (61%) |species == Fruitfly; gene == pnr; score == 196; expect == 3.6e-50; MEOW:FBgn0003117 (78%) |species == Mosquito; gene == LOC21808; score == 193; expect == 2.0e-50; MEOW:AGgn0021808 (76%) |species == Mosquito; score == 192; expect == 3.1e-49; MEOW:AGgn0021653 (75%) |species == Worm; gene == elt-1; score == 187; expect == 1.0e-47; MEOW:CEgn0000538 (53%) } # EOR GENR { RETE|ID 1 HUgn0002626 CHR 1 8 DID 1 LocusLink:2626 MAP 1 8p23.1-p22 NAM 1 GATA binding protein 4 ORG 1 Homo sapiens SYM 1 GATA4 ID|HUgn0002626 DID|LocusLink:2626 ORG|Homo sapiens RSQ|REFSEQ:NM_002052 RPA|REFPROT:NP_002043 DBA|XM:NM_002052 |NA:U28835 |NA:AF318320 |NA:AK097060 |NA:BC033672 |NA:BM560562 |NA:D78260 |NA:L34357 |NA:none PAC|XP:NP_002043 SYM|GATA4 NAM|GATA binding protein 4 FNC|GATA binding protein 4 REAB|This gene encodes a member of the GATA family of zinc-finger transcription factors. |Members of this family recognize the GATA motif which is present in the promoters |of many genes. This protein is thought to regulate genes involved in embryogenesis |and in myocardial differentiation and function. Mutations in this gene have been |associated with cardiac septal defects. CHR|8 PRD|GATA-binding protein 4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=243987 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2626[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433278 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002052 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002052 DBL|UNIGENE:Hs.243987 |OMIM:600576 |SNP:2626 MAP|8p23.1-p22 PHP|Atrial septal defect-2 HG|species == rat; score == 560; expect == 4e-160; MEOW:ref|NP_653331.1| (87%) |species == Mouse; gene == Gata4; score == 553; expect == 9e-158; MEOW:MGgn0004589 (84%) |species == Zfish; gene == gata4; score == 305; expect == 3.1e-83; MEOW:ZFgn0000159 (51%) |species == Human; gene == GATA6; score == 290; expect == 1.5e-78; MEOW:HUgn0002627 (54%) |species == Human; gene == GATA5; score == 266; expect == 1.5e-71; MEOW:HUgn0140628 (43%) |species == Zfish; gene == gata6; score == 264; expect == 3.4e-72; MEOW:ZFgn0000822 (46%) |species == Zfish; gene == gata5; score == 255; expect == 4.3e-68; MEOW:ZFgn0000104 (46%) |species == Fruitfly; gene == pnr; score == 215; expect == 2.0e-56; MEOW:FBgn0003117 (76%) |species == Mosquito; score == 213; expect == 2.0e-55; MEOW:AGgn0006261 (55%) |species == Fruitfly; gene == grn; score == 203; expect == 7.9e-53; MEOW:FBgn0001138 (77%) |species == Mosquito; score == 202; expect == 2.2e-52; MEOW:AGgn0021653 (74%) |species == Mosquito; gene == LOC21808; score == 199; expect == 1.1e-51; MEOW:AGgn0021808 (76%) |species == Worm; gene == elt-1; score == 174; expect == 6.1e-44; MEOW:CEgn0000538 (62%) } # EOR GENR { RETE|ID 1 HUgn0002627 CHR 1 18 DID 1 LocusLink:2627 MAP 1 18q11.1-q11.2 NAM 1 GATA binding protein 6 ORG 1 Homo sapiens SYM 1 GATA6 ID|HUgn0002627 DID|LocusLink:2627 ORG|Homo sapiens RSQ|REFSEQ:NM_005257 RPA|REFPROT:NP_005248 DBA|XM:NM_005257 |NA:BC027891 |NA:D87811 |NA:U66075 |NA:X95701 |NA:none PAC|XP:NP_005248 SYM|GATA6 NAM|GATA binding protein 6 FNC|GATA binding protein 6 |muscle development ; GO:0007517 |regulation of transcription, DNA-dependent ; GO:0006355 CHR|18 PRD|GATA-binding protein 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=50924 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2627[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4244630 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005257 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005257 DBL|UNIGENE:Hs.50924 |OMIM:601656 |SNP:2627 MAP|18q11.1-q11.2 ENZ|transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Gata6; score == 669; expect == 0.0; MEOW:MGgn0004591 (88%) |species == Zfish; gene == gata6; score == 383; expect == 7e-108; MEOW:ZFgn0000822 (49%) |species == Human; gene == GATA4; score == 290; expect == 1.5e-78; MEOW:HUgn0002626 (54%) |species == rat; score == 287; expect == 1.3e-77; MEOW:ref|NP_653331.1| (54%) |species == Human; gene == GATA5; score == 275; expect == 4.9e-74; MEOW:HUgn0140628 (40%) |species == Mosquito; score == 201; expect == 7.7e-52; MEOW:AGgn0006261 (49%) |species == Fruitfly; gene == pnr; score == 199; expect == 1.2e-51; MEOW:FBgn0003117 (74%) |species == Mosquito; score == 198; expect == 4.3e-51; MEOW:AGgn0021653 (63%) |species == Mosquito; gene == LOC21808; score == 191; expect == 4.0e-49; MEOW:AGgn0021808 (73%) |species == Fruitfly; gene == grn; score == 190; expect == 9.3e-49; MEOW:FBgn0001138 (67%) |species == Worm; gene == elt-1; score == 181; expect == 3.9e-46; MEOW:CEgn0000538 (48%) } # EOR GENR { RETE|ID 1 HUgn0002628 CHR 1 15 DID 1 LocusLink:2628 MAP 1 15q15.1 NAM 1 glycine amidinotransferase (L-arginine:glycine amidinotransferase) ORG 1 Homo sapiens SYM 1 GATM ID|HUgn0002628 DID|LocusLink:2628 ORG|Homo sapiens RSQ|REFSEQ:NM_001482 RPA|REFPROT:NP_001473 DBA|XM:NM_001482 |NA:AK098055 |NA:AK098393 |NA:BC004141 |NA:S68805 |NA:X86401 |NA:none PAC|XP:NP_001473 SYM|GATM NAM|glycine amidinotransferase (L-arginine:glycine amidinotransferase) SYN|AGAT FNC|glycine amidinotransferase (L-arginine:glycine amidinotransferase) |creatine biosynthesis ; GO:0006601 CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75335 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2628[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:337461 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001482 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001482 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75335 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.75335 |OMIM:602360 |SNP:2628 MAP|15q15.1 PHP|AGAT deficiency ENZ|glycine amidinotransferase activity ; GO:0015068 |transferase activity ; GO:0016740 CEL|cytosol ; GO:0005829 |mitochondrion ; GO:0005739 HG|species == Mouse; gene == Gatm; score == 833; expect == 0.0; MEOW:MGgn0018466 (95%) |species == rat; score == 321; expect == 4.3e-88; MEOW:ref|XP_342509.1| (92%) } # EOR GENR { RETE|ID 1 HUgn0002629 CHR 1 1 DID 1 LocusLink:2629 MAP 1 1q21 NAM 1 glucosidase, beta; acid (includes glucosylceramidase) ORG 1 Homo sapiens SYM 1 GBA ID|HUgn0002629 DID|LocusLink:2629 ORG|Homo sapiens RSQ|REFSEQ:NM_000157 RPA|REFPROT:NP_000148 DBA|XM:NM_000157 |NA:AF023268 |NA:J03059 |NA:BC000349 |NA:BC003356 |NA:BC030240 |NA:BX648487 |NA:D13286 |NA:D13287 |NA:K02920 |NA:M16328 |NA:M19285 PAC|XP:NP_000148 SYM|GBA NAM|glucosidase, beta; acid (includes glucosylceramidase) SYN|GBA1 |GLUC FNC|glucosidase, beta; acid (includes glucosylceramidase) CHR|1 PRD|Glucosidase, beta; acid URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282997 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511984 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2629[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119262 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000157 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000157 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=282997 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511984 |http://www.geneclinics.org/query?mim=606463 |http://www.ncbi.nlm.nih.gov/disease/Gaucher.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28591 DBL|UNIGENE:Hs.282997 |UNIGENE:Hs.511984 |OMIM:606463 |SNP:2629 |UWCM:119262.html ENZ|EC:3.2.1.45 MAP|1q21 PHP|Gaucher disease |Gaucher disease with cardiovascular calcification |Beta-glucocerebrosidase (glucosylceramidase, beta-D-glucosyl-N-acylsphingosine glucohydrolase); degrades sphingolipid glucocerebrosides CEL|lysosome ; GO:0005764 HG|species == chimp; score == 1073; expect == 0.0; MEOW:sp|Q9BDT0|Q9BDT0 (99%) |species == Mouse; gene == Gba; score == 909; expect == 0.0; MEOW:MGgn0004592 (86%) |species == Worm; gene == Y4C6B.6; score == 400; expect == 9e-112; MEOW:CEgn0021914 (42%) |species == Worm; gene == F11E6.1c; score == 364; expect == 8e-101; MEOW:CEgn0031913 (42%) |species == Human; gene == LOC375032; score == 354; expect == 3.6e-98; MEOW:HUgn0375032 (93%) |species == Worm; gene == C33C12.3; score == 339; expect == 3.3e-93; MEOW:CEgn0005851 (40%) |species == Worm; gene == C33C12.8; score == 330; expect == 1.7e-90; MEOW:CEgn0005856 (38%) |species == Fruitfly; gene == CG31148; score == 294; expect == 7.8e-80; MEOW:FBgn0051148 (32%) |species == Mosquito; gene == LOC22145; score == 284; expect == 5.9e-77; MEOW:AGgn0022145 (37%) } # EOR GENR { RETE|ID 1 HUgn0002630 CHR 1 1 DID 1 LocusLink:2630 MAP 1 1q21 NAM 1 glucosidase, beta; acid, pseudogene ORG 1 Homo sapiens SYM 1 GBAP ID|HUgn0002630 DID|LocusLink:2630 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF023268 |NA:AF267177 |NA:J03060 SYM|GBAP NAM|glucosidase, beta; acid, pseudogene CHR|1 MAP|1q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119979 } # EOR GENR { RETE|ID 1 HUgn0002631 CHR 1 7 DID 1 LocusLink:2631 MAP 1 7p12 NAM 1 glioblastoma amplified sequence ORG 1 Homo sapiens SYM 1 GBAS ID|HUgn0002631 DID|LocusLink:2631 ORG|Homo sapiens RSQ|REFSEQ:NM_001483 RPA|REFPROT:NP_001474 DBA|XM:NM_001483 |XM:NM_001483 |NA:AF029786 |NA:AJ001259 |NA:AK097049 |NA:AK125036 |NA:BC000732 |NA:BC001837 |NA:BC030821 |NA:none PAC|XP:NP_001474 |XP:NP_001474 SYM|GBAS NAM|glioblastoma amplified sequence SYN|NIPSNAP2 FNC|glioblastoma amplified sequence |metabolism ; GO:0008152 REAB|Chromosomal region 7p12, which contains GBAS, is amplified in approximately 40% of |glioblastomas, the most common and malignant form of central nervous system tumor.The |predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, |and 2 tyrosine phosphorylation sites. The GBAS transcript is expressed most abundantly |in heart and skeletal muscle. GBAS protein might be involved in vesicular transport. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=152707 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2631[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9411527 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001483 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001483 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=152707 DBL|UNIGENE:Hs.152707 |OMIM:603004 |SNP:2631 MAP|7p12 ENZ|folic acid binding ; GO:0005542 |transferase activity ; GO:0016740 HG|species == Mouse; gene == Gbas; score == 518; expect == 1e-147; MEOW:MGgn0004593 (93%) |species == Zfish; gene == nipsnap2; score == 447; expect == 2e-127; MEOW:ZFgn0000604 (80%) |species == rat; score == 425; expect == 1e-119; MEOW:ref|XP_341250.1| (71%) |species == Mouse; gene == Nipsnap1; score == 424; expect == 1e-119; MEOW:MGgn0008326 (76%) |species == Human; gene == NIPSNAP1; score == 418; expect == 2e-117; MEOW:HUgn0008508 (75%) |species == Zfish; gene == nipsnap1; score == 397; expect == 3e-112; MEOW:ZFgn0000603 (72%) |species == Fruitfly; gene == Nipsnap; score == 252; expect == 1.1e-67; MEOW:FBgn0030724 (45%) |species == Mosquito; gene == LOC14771; score == 251; expect == 1.8e-67; MEOW:AGgn0014771 (45%) |species == Mosquito; gene == LOC23016; score == 250; expect == 3.1e-67; MEOW:AGgn0023016 (46%) |species == Worm; gene == K02D10.1b; score == 187; expect == 5.1e-48; MEOW:CEgn0029540 (38%) |species == Worm; gene == K02D10.1a; score == 183; expect == 7.4e-47; MEOW:CEgn0029539 (40%) } # EOR GENR { RETE|ID 1 HUgn0002632 CHR 1 3 DID 1 LocusLink:2632 MAP 1 3p12.3 NAM 1 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) ORG 1 Homo sapiens SYM 1 GBE1 ID|HUgn0002632 DID|LocusLink:2632 ORG|Homo sapiens RSQ|REFSEQ:NM_000158 RPA|REFPROT:NP_000149 DBA|XM:NM_000158 |NA:AK125918 |NA:BC012098 |NA:L07956 |NA:none PAC|XP:NP_000149 SYM|GBE1 NAM|glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) SYN|GBE FNC|glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme) |glycogen biosynthesis ; GO:0005978 |energy pathways ; GO:0006091 |carbohydrate metabolism ; GO:0005975 REAB|This monomeric enzyme functions in glycogen symthesis by catalyzing the formation |of alpha 1,6- glucosidic linkages. It is most highly expressed in liver and muscle. | Deficiency can result in glycogen storage disease IV (Andersen's disease). CHR|3 PRD|Glycogen branching enzyme URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511986 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2632[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138442 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000158 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000158 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511986 |http://www.geneclinics.org/query?mim=232500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28594 DBL|UNIGENE:Hs.511986 |OMIM:607839 |SNP:2632 ENZ|EC:2.4.1.18 |1,4-alpha-glucan branching enzyme activity ; GO:0003844 |alpha-amylase activity ; GO:0004556 |hydrolase activity, hydrolyzing O-glycosyl compounds ; GO:0004553 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|3p12.3 PHP|Glycogen storage disease IV HG|species == Mouse; gene == Gbe1; score == 1353; expect == 0.0; MEOW:MGgn0019911 (91%) |species == Mosquito; gene == LOC10197; score == 869; expect == 0.0; MEOW:AGgn0010197 (61%) |species == Weed; gene == sbe2-1; score == 822; expect == 0.0; MEOW:ATgn000