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15 records found for search term Bbs5
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RGD IDSymbolNameDescriptionChrStartStopSpeciesAnnotationsMatchType
1310718Bbs5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (ortholog); RNA polymerase II-specific DNA-binding transcription factor binding (ortholog); INVOLVED IN cilium assembly (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); Bardet-Biedl syndrome 1 (ortholog); Bardet-Bi37481810474839658Rat71symbol , PhenoGengene, protein-coding, PROVISIONAL [RefSeq]
1321789BBS5Bardet-Biedl syndrome 5This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ci2169479494169506655Human280symbol , old_gene_name , COSMIC , Human Proteome Mapgene, protein-coding, REVIEWED [RefSeq]
1553562Bbs5Bardet-Biedl syndrome 5Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of B26947719369497915Mouse123symbol , old_gene_name , PhenoGen , descriptiongene, protein-coding, VALIDATED [RefSeq]
8817033Bbs5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (ortholog); RNA polymerase II-specific DNA-binding transcription factor binding (ortholog); INVOLVED IN cilium assembly (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); Bardet-Biedl syndrome 1 (ortholog); Bardet-BiNW_00495544950430345061806Chinchilla35symbolgene, protein-coding, MODEL [RefSeq]
11739113BBS5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (inferred); RNA polymerase II-specific DNA-binding transcription factor binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-B2B5675112956776637Bonobo45symbolgene, protein-coding, MODEL [RefSeq]
12102816BBS5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (inferred); RNA polymerase II-specific DNA-binding transcription factor binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-B361420691714233726Dog45symbolgene, protein-coding, MODEL [RefSeq]
12648186Bbs5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (inferred); RNA polymerase II-specific DNA-binding transcription factor binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-BNW_0049365092526345113Squirrel45symbolgene, protein-coding, MODEL [RefSeq]
625869040Bbs5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (ortholog); RNA polymerase II-specific DNA-binding transcription factor binding (ortholog); INVOLVED IN cilium assembly (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); Bardet-Biedl syndrome 1 (ortholog); Bardet-BiBlack Rat35symbolgene, protein-coding, MODEL [RefSeq]
14370100BBS5Flysymbolgene, null
14186206BBS5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (inferred); RNA polymerase II-specific DNA-binding transcription factor binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-BPig45symbolgene, protein-coding, MODEL [RefSeq]
18563182BBS5Bardet-Biedl syndrome 5ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding (inferred); RNA polymerase II-specific DNA-binding transcription factor binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-BGreen Monkey45symbol , old_gene_namegene, protein-coding, MODEL [RefSeq]
18931237Bbs5Bardet-Biedl syndrome 5ENCODES a protein that exhibits RNA polymerase II-specific DNA-binding transcription factor binding (ortholog); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); protein transport (inferred); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); Bardet-Biedl syndrome 1 (orNaked Mole-Rat40symbolgene, protein-coding, MODEL [RefSeq]
155236269bbs5Tropical Clawed Frogsymbolgene, null
155246692bbs5.LAfrican Clawed Frogsymbolgene, null
1319511BBS7Bardet-Biedl syndrome 7This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly i4121824329121870474Human339descriptiongene, protein-coding, REVIEWED [RefSeq]