BBS1

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome.

BBS1
Identifiers
Aliases	BBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDs	OMIM: 209901 MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1
Gene location (Human) Chr. Chromosome 11 (human) Band 11q13.2 Start 66,510,606 bp End 66,533,613 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 A Start 4,936,906 bp End 4,956,656 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube pituitary gland right lobe of thyroid gland anterior pituitary left lobe of thyroid gland superior frontal gyrus canal of the cervix nucleus accumbens renal cortex myometrium Top expressed in otolith organ spermatocyte utricle substantia nigra olfactory epithelium pineal gland habenula piriform cortex dorsomedial hypothalamic nucleus suprachiasmatic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function smoothened binding patched binding protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome cell projection BBSome membrane plasma membrane cilium microtubule organizing center ciliary membrane axoneme cytoskeleton Biological process response to stimulus retina homeostasis cell projection organization protein localization to cilium protein transport photoreceptor cell maintenance visual perception Golgi to plasma membrane protein transport cilium assembly non-motile cilium assembly sensory perception of smell Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 582 52028 Ensembl ENSG00000174483 ENSMUSG00000006464 UniProt Q8NFJ9 Q3V3N7 RefSeq (mRNA) NM_024649 NM_001033128 RefSeq (protein) NP_078925 NP_001028300 Location (UCSC) Chr 11: 66.51 – 66.53 Mb Chr 19: 4.94 – 4.96 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

History

As of 2008, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome

External links

• Human BBS1 genome location and BBS1 gene details page in the UCSC Genome Browser.

Further reading

• Katsanis N, Lewis RA, Stockton DW, et al. (2000). "Delineation of the critical interval of Bardet–Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees". Am. J. Hum. Genet. 65 (6): 1672–9. doi:10.1086/302684. PMC 1288378. PMID 10577921.
• Young TL, Woods MO, Parfrey PS, et al. (2000). "A founder effect in the newfoundland population reduces the Bardet–Biedl syndrome I (BBS1) interval to 1 cM". Am. J. Hum. Genet. 65 (6): 1680–7. doi:10.1086/302686. PMC 1288379. PMID 10577922.
• Beales PL, Reid HA, Griffiths MH, et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome". Nephrol. Dial. Transplant. 15 (12): 1977–85. doi:10.1093/ndt/15.12.1977. PMID 11096143.
• Mykytyn K, Nishimura DY, Searby CC, et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome". Nat. Genet. 31 (4): 435–8. doi:10.1038/ng935. PMID 12118255. S2CID 29915446.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mykytyn K, Nishimura DY, Searby CC, et al. (2003). "Evaluation of complex inheritance involving the most common Bardet–Biedl syndrome locus (BBS1)". Am. J. Hum. Genet. 72 (2): 429–37. doi:10.1086/346172. PMC 379234. PMID 12524598.
• Beales PL, Badano JL, Ross AJ, et al. (2003). "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome". Am. J. Hum. Genet. 72 (5): 1187–99. doi:10.1086/375178. PMC 1180271. PMID 12677556.
• Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. doi:10.1093/hmg/ddg188. PMID 12837689.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Fan Y, Esmail MA, Ansley SJ, et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome". Nat. Genet. 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Fan Y, Green JS, Ross AJ, et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval". Hum. Genet. 116 (1–2): 62–71. doi:10.1007/s00439-004-1184-9. PMID 15517396. S2CID 2305942.
• Azari AA, Aleman TS, Cideciyan AV, et al. (2006). "Retinal disease expression in Bardet–Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration". Invest. Ophthalmol. Vis. Sci. 47 (11): 5004–10. doi:10.1167/iovs.06-0517. PMID 17065520.