Entrez Summary: 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 Summary: 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 (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity). {ECO:0000250|UniProtKB:P59016, ECO:0000269|PubMed:18474358, ECO:0000305|PubMed:20190753, ECO:0000305|PubMed:23918659}.
Pfam DomainsGO Terms
Pfam Domains
Sec1
GO Terms
platelet alpha granule organization
peptidyl-lysine hydroxylation
HOPS complex
platelet alpha granule
protein hydroxylation
melanosome localization
pigment granule localization
autophagosome maturation
secretory granule organization
vesicle docking involved in exocytosis
lysosome localization
cellular pigmentation
endosome to lysosome transport
clathrin-coated vesicle
vesicle docking
collagen metabolic process
exocytic process
endosome organization
pigmentation
lysosomal transport
recycling endosome
late endosome membrane
late endosome
membrane fusion
vacuolar transport
early endosome membrane
macroautophagy
organelle localization by membrane tethering
membrane docking
vesicle localization
protein-containing complex disassembly
lysosome
process utilizing autophagic mechanism
autophagy
protein-containing complex binding
vesicle organization
lysosomal membrane
peptidyl-lysine modification
cellular component disassembly
endomembrane system organization
organelle localization
perinuclear region of cytoplasm
exocytosis
membrane organization
peptidyl-amino acid modification
Golgi apparatus
secretion by cell
export from cell
secretion
protein transport
intracellular transport
peptide transport
amide transport
establishment of protein localization
cellular catabolic process
establishment of localization in cell
nitrogen compound transport
protein-containing complex subunit organization
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)