| Gene Symbol |
TTC8
|
| Entrez Gene |
123016
|
| Alt Symbol |
BBS8, RP51
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
tetratricopeptide repeat domain 8
|
| Other Description |
Bardet-Biedl syndrome type 8|TPR repeat protein 8|tetratricopeptide repeat protein 8
|
| Swissprots |
Q86U26 B3KWA5 Q8TAM2 Q96DG8 A6NFG2 Q86TV9 Q8NDH9 Q67B97 Q86SY0
|
| Accessions |
EAW81395 EAW81396 EAW81397 EAW81398 EAW81399 EAW81400 EAW81401 EAW81402 Q8TAM2 AF086168 AK093891 BAG52780 AK124675 BAG54067 AK296077 BAG58833 AK315772 AL833901 CAD38757 AY366523 AAR02192 AY366524 AAR02193 AY373972 AAR19043 BC001563 AAH01563 BC026351 AAH26351 BC095433 AAH95433 BG330023 BU738965 BX161472 CAD61928 BX247959 CAD62299 BX248071 CAD62360 BX248248 CAD62576 BX537546 XM_006720035 XP_006720098 XM_006720037 XP_006720100 XM_011536432 XP_011534734 XM_011536433 XP_011534735 XM_011536434 XP_011534736 XM_011536435 XP_011534737 NM_001288781 NP_001275710 NM_001288782 NP_001275711 NM_001288783 NP_001275712 NM_144596 NP_653197 NM_198309 NP_938051 NM_198310 NP_938052
|
| 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. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
|
| Tissue Specificity |
Widely expressed.
|