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MGP006284

UniProt Annotations

Entry Information
Gene NameBBSome interacting protein 1
Protein EntryBBIP1_HUMAN
UniProt IDA8MTZ0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=A8MTZ0-1; Sequence=Displayed; Name=2; IsoId=A8MTZ0-2; Sequence=VSP_045981; Note=No experimental confirmation available.; Name=3; IsoId=A8MTZ0-3; Sequence=VSP_046434; Note=No experimental confirmation available.; Name=4; IsoId=A8MTZ0-4; Sequence=VSP_046433; Note=No experimental confirmation available.;
CautionWas previously thought to be non-coding and described as "non-protein coding RNA 81", abbreviated NCRNA00081. {ECO:0000305}.
DiseaseBardet-Biedl syndrome 18 (BBS18) [MIM:615995]: 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:24026985}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. {ECO:0000269|Ref.4}.
InteractionQ96RK4:BBS4; NbExp=3; IntAct=EBI-2892417, EBI-1805814;
SimilarityBelongs to the BBIP10 family. {ECO:0000305}.
Subcellular LocationCell projection, cilium {ECO:0000269|Ref.4}. Cytoplasm {ECO:0000269|Ref.4}. Note=Localizes inside the primary cilium but not at centriolar satellites.
SubunitPart of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6. {ECO:0000269|Ref.4}.
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