VPS53 gene

VPS53, GARP complex subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Pontocerebellar hypoplasia, type 2e

From UniProt:

Pontocerebellar hypoplasia 2E (PCH2E): A neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy. [MIM:615851]

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3

Molecular Location: base pairs 508,668 to 714,856 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
  • HCCS1
  • hVps53L
  • PCH2E
  • pp13624