VPS53

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

VPS53
Identifiers
Aliases	VPS53, HCCS1, PCH2E, hVps53L, pp13624, GARP complex subunit, VPS53 subunit of GARP complex
External IDs	OMIM: 615850; MGI: 1915549; HomoloGene: 6264; GeneCards: VPS53; OMA:VPS53 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 508,503 bp[1] End 721,717 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B5 Start 75,937,052 bp[2] End 76,070,473 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve bone marrow cells stromal cell of endometrium cerebellum cerebellar cortex cerebellar hemisphere corpus callosum right hemisphere of cerebellum right testis left testis Top expressed in retinal pigment epithelium neural layer of retina transitional epithelium of urinary bladder tail of embryo genital tubercle epithelium of stomach facial motor nucleus stroma of bone marrow supraoptic nucleus Epithelium of choroid plexus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component perinuclear region of cytoplasm recycling endosome EARP complex endosome Golgi apparatus endosome membrane GARP complex membrane trans-Golgi network trans-Golgi network membrane cytosol Biological process protein transport endocytic recycling lysosomal transport retrograde transport, endosome to Golgi Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55275 68299 Ensembl ENSG00000283883 ENSG00000141252 ENSMUSG00000017288 UniProt Q5VIR6 Q8CCB4 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 Mb Chr 11: 75.94 – 76.07 Mb PubMed search [3] [4]
Wikidata
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Function

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 pontocerebellar hypoplasia type 2E, PCH2E ( also known as progressive cerebello-cerebral atrophy type 2, PCCA2).^[6]