| Gene Symbol |
BBS5
|
| Entrez Gene |
129880
|
| Alt Symbol |
-
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 5
|
| Other Description |
Bardet-Biedl syndrome 5 protein
|
| Swissprots |
Q8N3I7 D3DPC3 Q6PKN0
|
| Accessions |
AAY24116 CAK32417 EAX11276 EAX11277 EAX11278 EAX11279 Q8N3I7 AA043704 AK097935 AK312680 AL834305 CAD38975 AM393220 CAL38098 AY604003 AAT08182 AY604004 AAT08183 BC044593 AAH44593 BP311042 CA336791 CD245392 H09195 NM_152384 NP_689597
|
| 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. {ECO:0000269|PubMed:17574030, ECO:0000269|Pub
|
| Subcellular Location |
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to basal bodies. {ECO:0000250}.
|
