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Protein Page:
BBS4

Overview
BBS4 May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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. Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Belongs to the BBS4 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold; Cell development/differentiation; Microtubule-binding
Chromosomal Location of Human Ortholog: 9 B|9 32.01 cM
Cellular Component: centriole; centrosome; cilium; cytosol; membrane; pericentriolar material; photoreceptor connecting cilium; photoreceptor inner segment; photoreceptor outer segment
Molecular Function: alpha-tubulin binding; beta-tubulin binding; microtubule motor activity; protein binding
Biological Process: adult behavior; brain morphogenesis; centrosome cycle; cerebral cortex development; cytokinesis after mitosis; dendrite development; fat cell differentiation; hippocampus development; leptin-mediated signaling pathway; maintenance of protein localization in nucleus; microtubule cytoskeleton organization and biogenesis; negative regulation of actin filament polymerization; negative regulation of systemic arterial blood pressure; neural tube closure; neuron migration; photoreceptor cell maintenance; positive regulation of flagellum biogenesis; positive regulation of multicellular organism growth; protein localization; protein localization in organelle; regulation of cytokinesis; regulation of lipid metabolic process; regulation of stress fiber formation; retinal homeostasis; retinal rod cell development; sensory perception of smell; social behavior; spermatid development; striatum development; ventricular system development
Reference #:  Q8C1Z7 (UniProtKB)
Alt. Names/Synonyms: AW537059; AW742241; Bardet-Biedl syndrome 4 (human); Bardet-Biedl syndrome 4 homolog; Bardet-Biedl syndrome 4 protein homolog; Bbs4; D9Ertd464e
Gene Symbols: Bbs4
Molecular weight: 58,255 Da
Basal Isoelectric point: 8.31  Predict pI for various phosphorylation states
Select Structure to View Below

BBS4

Protein Structure Not Found.

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