BBS1 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. Plays a role in olfactory cilium biogenesis/maintenance and trafficking. Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 19|19 A
Cellular Component:  axoneme; BBSome; cell projection; centriolar satellite; centrosome; ciliary basal body; cilium; cytoplasm; cytoskeleton; membrane; motile cilium; plasma membrane
Molecular Function:  patched binding; phosphoprotein binding; protein binding; RNA polymerase II repressing transcription factor binding; signaling receptor binding; smoothened binding
Biological Process:  adult behavior; brain morphogenesis; cartilage development; cell projection organization; cellular lipid metabolic process; cerebral cortex development; cilium assembly; dendrite development; fat cell differentiation; fertilization; Golgi to plasma membrane protein transport; hippocampus development; hormone metabolic process; intraciliary retrograde transport; microtubule cytoskeleton organization; neural precursor cell proliferation; neuron migration; non-motile cilium assembly; olfactory behavior; photoreceptor cell maintenance; photoreceptor cell morphogenesis; protein localization; protein localization to cilium; protein transport; regulation of cilium beat frequency involved in ciliary motility; response to stimulus; retina homeostasis; sensory perception of smell; striatum development; ventricular system development; visual perception
Reference #:  Q3V3N7 (UniProtKB)
Alt. Names/Synonyms: AI451249; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 (human); Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein homolog; Bbs1; D19Ertd609; D19Ertd609e
Gene Symbols: Bbs1
Molecular weight: 65,094 Da
Basal Isoelectric point: 8.74  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene