Recombinant Human Bardet-Biedl syndrome 5 protein (BBS5)

Uniprot Id

Q8N3I7

Target Species

Human

Target Name

BBS5

Target Full Name

BBSome complex member BBS5

Target 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 BBSome complex ciliary localization but not for the proper complex assembly.

Target Involvement

Bardet-Biedl syndrome 5 (BBS5)

Target Subcellular Location

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Target Protein Families

BBS5 family

Target Synonyms

Bardet Biedl syndrome 5 protein; Bardet-Biedl syndrome 5 protein; BBS5; BBS5_HUMAN