| Gene Symbol |
BBS1
|
| Entrez Gene |
582
|
| Alt Symbol |
BBS2L2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 1
|
| Other Description |
BBS2-like protein 2|Bardet-Biedl syndrome 1 protein
|
| Swissprots |
Q8NFJ9 Q32MN0 Q96SN4 Q32MM9
|
| Accessions |
CDI06878 EAW74542 Q8NFJ9 AF503941 AAM92770 AK027243 BAB15704 AK095638 AK294962 BAG58036 AK296311 BAG59009 AK302657 BAG63895 BC047642 AAH47642 BC109064 AAI09065 BC109065 AAI09066 BX647612 CAI46060 NM_024649 NP_078925
|
| 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 |
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
|
| Tissue Specificity |
Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
|