InterPro domain: IPR039766
General Information
- Identifier IPR039766
- Description Vacuolar protein sorting-associated protein 53
- Number of genes 177
- Gene duplication stats Loading...
- Associated GO terms GO:0000938 GO:0042147
Abstract
This entry represents Vps53 from eukaryotes. Vps53 is part of the of the GARP (Golgi-associated retrograde protein) complex involved in retrograde transport from early and late endosomes to late Golgi [ 1 , 2 , 3 ]. Mutations in the human Vps53 gene cause pontocerebellar hypoplasia 2E (PCH2E), a neurodegenerative disorder characterised by progressive cerebello-cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [ 4 ].
1. Vps52p, Vps53p, and Vps54p form a novel multisubunit complex required for protein sorting at the yeast late Golgi. Mol. Biol. Cell 11, 305-23
2. Vps51p links the VFT complex to the SNARE Tlg1p. J. Biol. Chem. 277, 48318-24
3. Characterization of the human GARP (Golgi associated retrograde protein) complex. Exp. Cell Res. 306, 24-34
4. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J. Med. Genet. 51, 303-8