VPS53

This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi.

Full Name

VPS53 GARP complex subunit

Function

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).

Biological Process

Biological Process endocytic recycling Source:UniProtKB1 Publication
Biological Process lysosomal transport Source:MGI1 Publication
Biological Process protein targeting to lysosome Source:Ensembl
Biological Process retrograde transport, endosome to Golgi Source:UniProtKB1 Publication
Biological Process vesicle-mediated cholesterol transport Source:Ensembl

Cellular Location

Golgi apparatus, trans-Golgi network membrane
Endosome membrane
Recycling endosome
Localizes to the trans-Golgi network as part of the GARP complex, while it localizes to recycling endosomes as part of the EARP complex (PubMed:25799061).

Involvement in disease

Pontocerebellar hypoplasia 2E (PCH2E):
An autosomal recessive neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy.