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: 11q13.2
Cellular Component:  BBSome; centrosome; ciliary membrane; cytosol
Molecular Function:  patched binding; protein binding; RNA polymerase II repressing transcription factor binding; smoothened binding
Biological Process:  cilium assembly; Golgi to plasma membrane protein transport; non-motile cilium assembly; photoreceptor cell maintenance; protein localization to cilium; response to stimulus; retina homeostasis; sensory perception of smell; visual perception
Disease: Bardet-biedl Syndrome 1
Reference #:  Q8NFJ9 (UniProtKB)
Alt. Names/Synonyms: Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 protein; BBS1; BBS2-like protein 2; BBS2L2; FLJ23590; MGC126183; MGC126184; MGC51114
Gene Symbols: BBS1
Molecular weight: 65,083 Da
Basal Isoelectric point: 8.02  Predict pI for various phosphorylation states
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BBS1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene