Aliases for VPS52 Gene
External Ids for VPS52 Gene
Previous HGNC Symbols for VPS52 Gene
Previous GeneCards Identifiers for VPS52 Gene
This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for VPS52 Gene
VPS52 (VPS52 Subunit Of GARP Complex) is a Protein Coding gene. Diseases associated with VPS52 include Robinow Syndrome, Autosomal Dominant 2 and Prader-Willi Syndrome. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include syntaxin binding.
UniProtKB/Swiss-Prot Summary for VPS52 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).