Login
Login

BBS1

{{short description|Protein}}

{{Infobox_gene}}

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.{{cite journal | vauthors = Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA | title = Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families | journal = J Med Genet | volume = 34 | issue = 2 | pages = 92–8 |date=May 1997 | pmid = 9039982 | pmc = 1050859 | doi =10.1136/jmg.34.2.92 }}{{cite journal | vauthors = Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N | title = Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2 | journal = Am J Hum Genet | volume = 72 | issue = 3 | pages = 650–8 |date=Feb 2003 | pmid = 12567324 | pmc = 1180240 | doi = 10.1086/368204 }}{{cite web | title = Entrez Gene: BBS1 Bardet–Biedl syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582| accessdate = }}

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.{{update after|2013|2|10}}

References

{{reflist}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome]

External links

  • {{UCSC gene info|BBS1}}

Further reading

{{refbegin | 2}}

  • {{cite journal | vauthors=Katsanis N, Lewis RA, Stockton DW |title=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. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1672–9 |year= 2000 |pmid= 10577921 |doi=10.1086/302684 | pmc=1288378 |display-authors=etal}}
  • {{cite journal | vauthors=Young TL, Woods MO, Parfrey PS |title=A founder effect in the newfoundland population reduces the Bardet–Biedl syndrome I (BBS1) interval to 1 cM. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1680–7 |year= 2000 |pmid= 10577922 |doi=10.1086/302686 | pmc=1288379 |display-authors=et al}}
  • {{cite journal | vauthors=Beales PL, Reid HA, Griffiths MH |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=10.1093/ndt/15.12.1977 |display-authors=et al|doi-access=free }}
  • {{cite journal | vauthors=Mykytyn K, Nishimura DY, Searby CC |title=Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome. |journal=Nat. Genet. |volume=31 |issue= 4 |pages= 435–8 |year= 2002 |pmid= 12118255 |doi= 10.1038/ng935 |s2cid=29915446 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=et al|doi-access=free }}
  • {{cite journal | vauthors=Mykytyn K, Nishimura DY, Searby CC |title=Evaluation of complex inheritance involving the most common Bardet–Biedl syndrome locus (BBS1). |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 429–37 |year= 2003 |pmid= 12524598 |doi=10.1086/346172 | pmc=379234 |display-authors=etal}}
  • {{cite journal | vauthors=Beales PL, Badano JL, Ross AJ |title=Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=10.1086/375178 | pmc=1180271 |display-authors=etal}}
  • {{cite journal | vauthors=Badano JL, Kim JC, Hoskins BE |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=10.1093/hmg/ddg188 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=et al|doi-access=free }}
  • {{cite journal | vauthors=Fan Y, Esmail MA, Ansley SJ |title=Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome. |journal=Nat. Genet. |volume=36 |issue= 9 |pages= 989–93 |year= 2004 |pmid= 15314642 |doi= 10.1038/ng1414 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=et al}}
  • {{cite journal | vauthors=Fan Y, Green JS, Ross AJ |title=Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval. |journal=Hum. Genet. |volume=116 |issue= 1–2 |pages= 62–71 |year= 2005 |pmid= 15517396 |doi= 10.1007/s00439-004-1184-9 |s2cid=2305942 |display-authors=et al}}
  • {{cite journal | vauthors=Azari AA, Aleman TS, Cideciyan AV |title=Retinal disease expression in Bardet–Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 11 |pages= 5004–10 |year= 2006 |pmid= 17065520 |doi= 10.1167/iovs.06-0517 |display-authors=et al|doi-access=free }}

{{refend}}

{{Ciliary proteins}}

{{protein-stub}}