Human vacuolar protein sorting 33 homolog B (yeast) ELISA Kit | VPS33B elisa kit

Human Vacuolar protein sorting-associated protein 33B, VPS33B ELISA Kit

Cat. Num. AAA9322587

• Reactivity: Human
• Synonyms: vacuolar protein sorting 33 homolog B (yeast); Human Vacuolar protein sorting-associated protein 33B; VPS33B ELISA Kit; Human Vacuolar protein sorting-associated protein 33B (VPS33B) ELISA kit; FLJ14848; vacuolar protein sorting 33B; vacuolar protein sorting 33B (yeast homolog) ) ; VPS33B elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 119829191
• NCBI GeneID: 26276
• NCBI Accession #: NP_061138.3
• NCBI GenBank Nucleotide #: NM_018668.4
• UniProt Accession #: Q9H267; Q96K14; Q9NRP6; Q9NSF3
• Molecular Weight: 70,585 Da
• NCBI Official Full Name: vacuolar protein sorting-associated protein 33B isoform 1
• NCBI Official Synonym Full Names: vacuolar protein sorting 33 homolog B (yeast)
• NCBI Official Symbol: VPS33B
• NCBI Protein Information: vacuolar protein sorting-associated protein 33B
• UniProt Protein Name: Vacuolar protein sorting-associated protein 33B
• Protein Family: Vacuolar protein sorting-associated protein
• UniProt Gene Name: VPS33B
• UniProt Synonym Gene Names: hVPS33B
• UniProt Entry Name: VP33B_HUMAN

NCBI Description

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Description

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: lysosomal membrane; perinuclear region of cytoplasm; late endosome membrane; lysosome; late endosome; cytoplasm

Molecular Function: protein binding

Biological Process: vesicle-mediated transport; protein transport; lysosome localization; melanosome localization; vesicle docking during exocytosis

Disease: Arthrogryposis, Renal Dysfunction, And Cholestasis 1