BBS1: Difference between revisions

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{{Infobox_gene}}
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'''Bardet-Biedl syndrome 1 protein''' is a [[protein]] that in humans is encoded by the ''BBS1'' [[gene]].<ref name="pmid9039982">{{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  }}</ref><ref name="pmid12567324">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
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BBS1 is part of the [[BBSome]] complex, which required for [[ciliogenesis]].
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Mutations in this gene have been observed in patients with the major form (type 1) of [[Bardet-Biedl syndrome]].
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==History==
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{{asof|2008}}, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.<ref name="entrez" />{{update after|2013|2|10}}
}}
 
==References==
{{reflist}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==External links==
{{GNF_Protein_box
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs  GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
| image = 
| image_source = 
| PDB =
| Name = Bardet-Biedl syndrome 1
| HGNCid = 966
| Symbol = BBS1
| AltSymbols =; BBS2L2; FLJ23590; MGC126183; MGC126184; MGC51114
| OMIM = 209901
| ECnumber = 
| Homologene = 11641
| MGIid = 1277215
| Function =
| Component =
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 582
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_078925
    | Hs_RefseqmRNA = NM_024649
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end =
    | Hs_Uniprot =
    | Mm_EntrezGene = 52028
    | Mm_Ensembl = ENSMUSG00000006464
    | Mm_RefseqmRNA = NM_001033128
    | Mm_RefseqProtein = NP_001028300
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 4886884
    | Mm_GenLoc_end = 4906616
    | Mm_Uniprot = 
  }}
}}
'''Bardet-Biedl syndrome 1''', also known as '''BBS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BBS1 Bardet-Biedl syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582| accessdate = }}</ref>


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==External links==
{{PBB_Summary
* {{UCSC gene info|BBS1}}
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: BBS1 Bardet-Biedl syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582| accessdate = }}</ref>
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Beales PL, Warner AM, Hitman GA, ''et al.'' |title=Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. |journal=J. Med. Genet. |volume=34 |issue= 2 |pages= 92-8 |year= 1997 |pmid= 9039982 |doi=  }}
*{{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  | author=Katsanis N, Lewis RA, Stockton DW, ''et al.'' |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=  }}
*{{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=etal}}
*{{cite journal  | author=Young TL, Woods MO, Parfrey PS, ''et al.'' |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=  }}
*{{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=etal}}
*{{cite journal  | author=Beales PL, Reid HA, Griffiths MH, ''et al.'' |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=  }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Mykytyn K, Nishimura DY, Searby CC, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  | author=Mykytyn K, Nishimura DY, Searby CC, ''et al.'' |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= }}
*{{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 | author=Badano JL, Ansley SJ, Leitch CC, ''et al.'' |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 |year= 2003 |pmid= 12567324 |doi=  }}
*{{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}}
*{{cite journal  | author=Beales PL, Badano JL, Ross AJ, ''et al.'' |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=  }}
*{{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=etal}}
*{{cite journal  | author=Badano JL, Kim JC, Hoskins BE, ''et al.'' |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=  }}
*{{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}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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=etal}}
*{{cite journal  | author=Fan Y, Esmail MA, Ansley SJ, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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=etal}}
*{{cite journal  | author=Fan Y, Green JS, Ross AJ, ''et al.'' |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 }}
*{{cite journal  | author=Azari AA, Aleman TS, Cideciyan AV, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}
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{{Ciliary proteins}}


{{protein-stub}}
{{protein-stub}}
{{WikiDoc Sources}}

Latest revision as of 02:29, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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][needs update]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: BBS1 Bardet-Biedl syndrome 1".

External links

External links

Further reading



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