Entrez Summary: This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010].
UniProt Summary: Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A- dependent recycling pathway and in the maintenance of the apical- basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E- cadherin (By similarity). {ECO:0000250|UniProtKB:Q23288, ECO:0000269|PubMed:19109425, ECO:0000269|PubMed:20190753}.
Pfam DomainsGO Terms
Pfam Domains
Vps16 C
Golgin A5
GO Terms
peptidyl-lysine hydroxylation
HOPS complex
protein hydroxylation
autophagosome maturation
collagen fibril organization
endosome to lysosome transport
collagen metabolic process
lysosomal transport
recycling endosome
late endosome
vacuolar transport
macroautophagy
protein-containing complex disassembly
early endosome
autophagy
process utilizing autophagic mechanism
protein-containing complex binding
peptidyl-lysine modification
extracellular matrix organization
post-translational protein modification
extracellular structure organization
cellular component disassembly
supramolecular fiber organization
spermatogenesis
male gamete generation
gamete generation
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
peptidyl-amino acid modification
Golgi apparatus
intracellular protein transport
multi-organism reproductive process
reproductive process
reproduction
protein transport
intracellular transport
peptide transport
amide transport
cellular protein localization
cellular macromolecule localization
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)