disease:Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) [MIM:208085]. ARC is an autosomal recessive multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.,function:May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes.,similarity:Belongs to the STXBP/unc-18/SEC1 family.,subcellular location:Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes.,tissue specificity:Ubiquitous; highly expressed in testis and low expression in the lung.,
Late endosome membrane ; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane ; Peripheral membrane protein; Cytoplasmic side. Early endosome . Cytoplasmic vesicle, clathrin-coated vesicle . Recycling endosome . Colocalizes in clusters with VIPAS39 at cytoplasmic organelles (PubMed:19109425). Colocalizes with RAB11A and VIPAS39 on recycling endosomes (PubMed:22753090). Colocalizes with AP-3, clathrin, Rab5 and Rab7b (PubMed:21411634). Colocalizes with M.tuberculosis PtpA in the cytosol of tuberculosis-infected macrophages and associates with phagosomes (PubMed:18474358). .
Ubiquitous; highly expressed in testis and low expression in the lung.
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