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.
Gene References into Functions
- Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women PMID: 26480920
- BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene. PMID: 26846096
- BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller. PMID: 26085087
- we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
- The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration. PMID: 25631089
- Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206. PMID: 23160099
- Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish. PMID: 22479622
- gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues PMID: 12618763
- Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. PMID: 16380913
- PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF PMID: 18349106
Show More
Hide All
Involvement in disease
Bardet-Biedl syndrome 9 (BBS9)
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. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
