NP_001276077.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
60,032 Da
NCBI Official Full Name
vacuolar protein sorting-associated protein 33B isoform 2
NCBI Official Synonym Full Names
VPS33B, late endosome and lysosome associated
NCBI Protein Information
vacuolar protein sorting-associated protein 33B
UniProt Protein Name
Vacuolar protein sorting-associated protein 33B
UniProt Synonym Gene Names
UniProt Entry Name
VP33B_HUMAN
UniProt Comments for VPS33B
VPS33B: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1). ARCS1 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. Belongs to the STXBP/unc-18/SEC1 family.
Protein type: Vesicle
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: clathrin-coated vesicle; cytoplasm; early endosome membrane; late endosome; lysosome; perinuclear region of cytoplasm
Molecular Function: protein binding
Biological Process: endosome organization and biogenesis; endosome to lysosome transport; lysosome localization; melanosome localization; protein transport; vesicle-mediated transport
Disease: Arthrogryposis, Renal Dysfunction, And Cholestasis 1
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Diseases associated with anti-VPS33B antibody
Organs/Tissues associated with anti-VPS33B antibody
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