Aliases for VPS53 Gene
External Ids for VPS53 Gene
Previous GeneCards Identifiers for VPS53 Gene
This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]
GeneCards Summary for VPS53 Gene
VPS53 (Vacuolar Protein Sorting 53 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VPS53 include pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia type 2d.
UniProtKB/Swiss-Prot for VPS53 Gene
Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).