| Gene Symbol |
BBS4
|
| Entrez Gene |
585
|
| Alt Symbol |
-
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 4
|
| Other Description |
Bardet-Biedl syndrome 4 protein
|
| Swissprots |
Q96RK4 Q96H45 Q8NHU9 Q53DZ5 B4E178
|
| Accessions |
EAW77912 EAW77913 Q96RK4 AF359281 AAK58868 AK075321 BAC11547 AK298922 BAG61027 AK302224 BAH13654 AK303706 BAG64690 AK310106 AK314507 BAG37107 AY457143 AAS13441 BC008923 AAH08923 BC027624 AAH27624 BI562463 BM664845 BX647855 DC320069 DC372967 DQ891519 ABM82445 DQ894709 ABM85635 XM_006720625 XP_006720688 XM_011521848 XP_011520150 XM_011521849 XP_011520151 XM_011521850 XP_011520152 XM_011521851 XP_011520153 NM_001252678 NP_001239607 NM_033028 NP_149017 NR_045565 NR_045566
|
| 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
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum {ECO:0000250}. Note=Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein.
|
| Tissue Specificity |
Ubiquitously expressed. The highest level of expression is found in the kidney.
|