VIPAS39
Function
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 independent 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).
Involvement in disease
Arthrogryposis, renal dysfunction and cholestasis syndrome 2
ARCS2
A 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.
None
The disease is caused by variants affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased.
Sequence Similarities
Belongs to the SPE39 family.
Cellular localization
- Cytoplasm
- Cytoplasmic vesicle
- Early endosome
- Recycling endosome
- Late endosome
- Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).
Alternative names
C14orf133, SPE39, VIPAR, VIPAS39, Spermatogenesis-defective protein 39 homolog, hSPE-39, VPS33B-interacting protein in apical-basolateral polarity regulator, VPS33B-interacting protein in polarity and apical restriction