| UniProt Protein Function: | The 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 (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking. |
| NCBI Summary: | 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. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q8NFJ9 |
| NCBI GenInfo Identifier: | 28395045 |
| NCBI Gene ID: | 582 |
| NCBI Accession: | NP_078925.3 |
| UniProt Related Accession: | Q8NFJ9 |
| Molecular Weight: | 49kDa; 65kDa; 69kDa |
| NCBI Full Name: | Bardet-Biedl syndrome 1 protein |
| NCBI Synonym Full Names: | Bardet-Biedl syndrome 1 |
| NCBI Official Symbol: | BBS1 |
| NCBI Official Synonym Symbols: | BBS2L2 |
| NCBI Protein Information: | Bardet-Biedl syndrome 1 protein |
| UniProt Protein Name: | Bardet-Biedl syndrome 1 protein |
| UniProt Synonym Protein Names: | BBS2-like protein 2 |
| Protein Family: | Bardet-Biedl syndrome 1 protein |
| UniProt Gene Name: | BBS1 |
