Aliases for VIPAS39 Gene
- VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog 2 3
- C14orf133 3 4 6
- SPE39 3 4 6
- VIPAR 3 4 6
- VPS33B-Interacting Protein In Apical-Basolateral Polarity Regulator 3 4
- VPS33B-Interacting Protein In Polarity And Apical Restriction 3 4
- HSPE-39 3 4
- VPS33B-Interacting Protein Involved In Polarity And Apical Protein Restriction 3
External Ids for VIPAS39 Gene
Previous Symbols for VIPAS39 Gene
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]
GeneCards Summary for VIPAS39 Gene
VIPAS39 (VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog) is a Protein Coding gene. Diseases associated with VIPAS39 include arthrogryposis, renal dysfunction, and cholestasis 2 and vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome.
UniProtKB/Swiss-Prot for VIPAS39 Gene
May play a role in vesicular trafficking during spermatogenesis (By similarity). Plays a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes. May play a role in epithelial polarization through stabilization of apical membrane protein content, possibly via the RAB11A-dependent apical recycling pathway. Also involved in direct or indirect transcriptional regulation of E-cadherin.