VPS53

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)
End	721,717 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	76,070,473 bp
RNA expression pattern
	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
	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
	55275
	68299
	ENSG00000283883; ENSG00000141252
	ENSMUSG00000017288
	Q5VIR6
	Q8CCB4
	NM_001128159; NM_018289; NM_001366253; NM_001366254
	NM_026664; NM_001364738
	NP_001121631; NP_060759; NP_001353182; NP_001353183
	NP_080940; NP_001351667
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c ENSG00000141252 GRCh38: Ensembl release 89: ENSG00000283883, ENSG00000141252 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017288 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)".
^ 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. S2CID 8752023.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (April 2003). "Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3". American Journal of Human Genetics. 72 (4): 918–30. doi:10.1086/374320. PMC 1180354. PMID 12621583.
Pérez-Victoria FJ, Schindler C, Magadán JG, Mardones GA, Delevoye C, Romao M, Raposo G, Bonifacino JS (October 2010). "Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex". Molecular Biology of the Cell. 21 (19): 3386–95. doi:10.1091/mbc.E10-05-0392. PMC 2947474. PMID 20685960.
Zhu JD, Fei Q, Wang P, Lan F, Mao DQ, Zhang HY, Yao XB (September 2006). "Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site". Cell Research. 16 (9): 780–96. doi:10.1038/sj.cr.7310092. PMID 16953216.
Pérez-Victoria FJ, Bonifacino JS (October 2009). "Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network". Molecular and Cellular Biology. 29 (19): 5251–63. doi:10.1128/MCB.00495-09. PMC 2747979. PMID 19620288.
Ko JK, Choi KH, Pan Z, Lin P, Weisleder N, Kim CW, Ma J (August 2007). "The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis" (PDF). Journal of Cell Science. 120 (Pt 16): 2912–23. doi:10.1242/jcs.006197. PMID 17666431. S2CID 14635274.
Liewen H, Meinhold-Heerlein I, Oliveira V, Schwarzenbacher R, Luo G, Wadle A, Jung M, Pfreundschuh M, Stenner-Liewen F (May 2005). "Characterization of the human GARP (Golgi associated retrograde protein) complex". Experimental Cell Research. 306 (1): 24–34. doi:10.1016/j.yexcr.2005.01.022. PMID 15878329.
Zhao X, He M, Wan D, Ye Y, He Y, Han L, Guo M, Huang Y, Qin W, Wang MW, Chong W, Chen J, Zhang L, Yang N, Xu B, Wu M, Zuo L, Gu J (February 2003). "The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis". Cancer Letters. 190 (2): 221–32. doi:10.1016/s0304-3835(02)00622-5. PMID 12565177.
Pérez-Victoria FJ, Mardones GA, Bonifacino JS (June 2008). "Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes". Molecular Biology of the Cell. 19 (6): 2350–62. doi:10.1091/mbc.E07-11-1189. PMC 2397299. PMID 18367545.

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

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000141252 GRCh38: Ensembl release 89: ENSG00000283883, ENSG00000141252 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000017288 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-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. S2CID 8752023.

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VPS53

Function

References

Further reading