BBS9 — Bardet-Biedl syndrome 9
BBS9 belongs to a gene co-expression module in 1 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
BBS9's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Lymphatic endothelial | Cilia Centrosome Program Cytoskeletal | ARB2A, BCAS3, CDKAL1, CEP112, EPB41L4A, FCHSD2, FTO, MBD5 +7 more | View in SCUBA |
About the gene
| Synonyms | B1, PTHB1 |
|---|---|
| Chromosome | 7: 33109557-33877180 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Predicted intracellular proteins |
| Biological process | Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision |
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. Required for proper BBSome complex assembly and its ciliary localization
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.