Recombinant Human Bardet-Biedl syndrome 4 protein (BBS4)

Uniprot Id

Q96RK4

Target Species

Human

Target Name

BBS4

Target Full Name

BBSome complex member BBS4

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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

Target Involvement

Bardet-Biedl syndrome 4 (BBS4)

Target Subcellular Location

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

Target Protein Families

BBS4 family

Target Tissue Specificity

Ubiquitously expressed. The highest level of expression is found in the kidney.

Target Synonyms

Bardet Biedl syndrome 4 protein; Bardet-Biedl syndrome 4 protein; Bbs4; BBS4_HUMAN