BBS1
| Bardet-Biedl syndrome 1 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | BBS1 ; BBS2L2 | ||||||||||||
| External IDs | OMIM: 209901 MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1 Gene | ||||||||||||
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| 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: 4.89 – 4.91 Mb | |||||||||||
| PubMed search | |||||||||||||
Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.[1][2][3] 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.
History
As of 2008, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[3]
External links
References
- ↑ Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). "Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families". J Med Genet 34 (2): 92–8. doi:10.1136/jmg.34.2.92. PMC 1050859. PMID 9039982.
- ↑ Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324.
- 1 2 "Entrez Gene: BBS1 Bardet-Biedl syndrome 1".
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.
- 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. 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.
- 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.
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