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MGP000289

UniProt Annotations

Entry Information
Gene NameBardet-Biedl syndrome 1
Protein EntryBBS1_HUMAN
UniProt IDQ8NFJ9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NFJ9-1; Sequence=Displayed; Name=3; Synonyms=DPP3-BBS1; IsoId=Q8NFJ9-2; Sequence=VSP_008854; Note=Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available.; Name=2; IsoId=Q8NFJ9-3; Sequence=VSP_054152, VSP_054153; Note=No experimental confirmation available.;
DiseaseBardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:12118255, ECO:0000269|PubMed:12524598, ECO:0000269|PubMed:12567324, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:12920096, ECO:0000269|PubMed:15770229, ECO:0000269|PubMed:21052717, ECO:0000269|PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome.
FunctionThe BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
InteractionP05062:ALDOB; NbExp=4; IntAct=EBI-1805484, EBI-1045507; Q9H0F7:ARL6; NbExp=4; IntAct=EBI-1805484, EBI-2891949; Q9BXC9:BBS2; NbExp=6; IntAct=EBI-1805484, EBI-748297; Q96RK4:BBS4; NbExp=5; IntAct=EBI-1805484, EBI-1805814; Q8IWZ6:BBS7; NbExp=6; IntAct=EBI-1805484, EBI-1806001; Q3SYG4:BBS9; NbExp=6; IntAct=EBI-1805484, EBI-2826852; P68104:EEF1A1; NbExp=3; IntAct=EBI-1805484, EBI-352162; P48356-1:Lepr (xeno); NbExp=3; IntAct=EBI-1805484, EBI-6143588; Q15154:PCM1; NbExp=2; IntAct=EBI-1805484, EBI-741421; Q96QF0-1:RAB3IP; NbExp=2; IntAct=EBI-1805484, EBI-747860;
Subcellular LocationCell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
SubunitPart of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C- terminus of RAB3IP. Interacts with CCDC28B and ALDOB. {ECO:0000269|PubMed:16327777, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:18000879, ECO:0000269|PubMed:22072986}.
Tissue SpecificityHighly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
Web ResourceName=Mutations of the BBS1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/bbs1mut.htm";
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