Anti-SPE39

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], Protein 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. May be involved in direct or indirect transcriptional regulation of E-cadherin. [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: Cytoplasm . Cytoplasmic vesicle . Early endosome . Recycling endosome . Late endosome . Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).