Aliases for VPS54 Gene
External Ids for VPS54 Gene
Previous GeneCards Identifiers for VPS54 Gene
This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]
GeneCards Summary for VPS54 Gene
VPS54 (VPS54 Subunit Of GARP Complex) is a Protein Coding gene. Diseases associated with VPS54 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 and Spermatogenic Failure 9. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include syntaxin binding.
UniProtKB/Swiss-Prot Summary for VPS54 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:18367545). Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling (PubMed:25799061).