| Gene Symbol |
BBS7
|
| Entrez Gene |
55212
|
| Alt Symbol |
BBS2L1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 7
|
| Other Description |
BBS2-like 1|Bardet-Biedl syndrome 7 protein
|
| Swissprots |
Q8N581 Q8IWZ6 Q9NVI4 Q4W5P8
|
| Accessions |
AAY40970 EAX05244 EAX05245 Q8IWZ6 AF521643 AAO16025 AF521644 AAO16026 AI220177 AK001577 BAA91767 AK308076 AK309803 BC032691 AAH32691 BF431967 BG720664 BM998707 BQ940332 BX510161 DB139794 DQ890888 ABM81814 DQ896810 ABM87809 XM_005263106 XP_005263163 XM_011532079 XP_011530381 XM_011532080 XP_011530382 XM_011532081 XP_011530383 NM_018190 NP_060660 NM_176824 NP_789794
|
| 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 |
Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
|