InterPro domain: IPR026847
General Information
- Identifier IPR026847
- Description Vacuolar protein sorting-associated protein 13
- Number of genes 377
- Gene duplication stats Loading...
Abstract
Vacuolar protein sorting-associated protein 13 (VPS13) is involved in the delivery of proteins to the vacuole in vegetatively growing yeast [ 1 ] and also regulates membrane morphogenesis during sporulation [ 2 ]. In humans, the hereditary disorders chorea acanthocytosis and Cohen syndrome are caused by mutations in members of this family that are orthologues of yeast VPS13 (VPS13A and VPS13B respectively). The function of the different proteins in mammals has not been defined [ 3 , 3 ].
1. SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals. J. Cell Biol. 139, 23-36
2. VPS13 regulates membrane morphogenesis during sporulation in Saccharomyces cerevisiae. J. Cell. Sci. 125, 3004-11
3. Analysis of the human VPS13 gene family. Genomics 84, 536-49