VPS53

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
VPS53
Identifiers
AliasesVPS53, HCCS1, PCH2E, hVps53L, pp13624, GARP complex subunit
External IDsMGI: 1915549 HomoloGene: 6264 GeneCards: VPS53
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for VPS53
Genomic location for VPS53
Band17p13.3Start508,668 bp[1]
End721,717 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001128159
NM_018289
NM_001366253
NM_001366254

NM_026664
NM_001364738

RefSeq (protein)

NP_001121631
NP_060759
NP_001353182
NP_001353183

NP_080940
NP_001351667

Location (UCSC)Chr 17: 0.51 – 0.72 MbChr 11: 76.05 – 76.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting 53 homolog (S. cerevisiae) is a protein that in humans is encoded by the VPS53 gene.[5]

Function[edit]

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].

Mutations in VPS53 cause cerebello-cerebral atrophy type 2 .[6]

References[edit]

  1. ^ a b c ENSG00000141252 GRCh38: Ensembl release 89: ENSG00000283883, ENSG00000141252 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017288 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)".
  6. ^ Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS (May 2014). "VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)". Journal of Medical Genetics. 51 (5): 303–8. doi:10.1136/jmedgenet-2013-101823. PMID 24577744.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.