Aliases for BBIP1 Gene
External Ids for BBIP1 Gene
Previous HGNC Symbols for BBIP1 Gene
Previous GeneCards Identifiers for BBIP1 Gene
This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
GeneCards Summary for BBIP1 Gene
BBIP1 (BBSome Interacting Protein 1) is a Protein Coding gene. Diseases associated with BBIP1 include Bardet-Biedl Syndrome 18 and Specific Learning Disability. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.
UniProtKB/Swiss-Prot Summary for BBIP1 Gene
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 primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.