VPS53

Function

Acts as a 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 a 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).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the VPS53 family.

Cellular localization

• Golgi apparatus
• trans-Golgi network membrane
• Peripheral membrane protein
• Endosome membrane
• Peripheral membrane protein
• 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).

Alternative names

PP13624, VPS53, Vacuolar protein sorting-associated protein 53 homolog

Database links

swissprot:Q5VIR6 entrezGene:55275 swissprot:B3FH42 genbank:BC006116