VPS37A

VPS37A
Identifiers
Aliases	VPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDs	OMIM: 609927; MGI: 1261835; HomoloGene: 45120; GeneCards: VPS37A; OMA:VPS37A - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	17,302,427 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	40,551,134 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; gastrocnemius muscle; ; Achilles tendon; ; myocardium of left ventricle; ; right testis; ; tibialis anterior muscle; ; secondary oocyte; ; left testis; ; smooth muscle tissue; ; stromal cell of endometrium;
	Top expressed in
	muscle of thigh; ; spermatocyte; ; retinal pigment epithelium; ; supraoptic nucleus; ; substantia nigra; ; spermatid; ; vestibular membrane of cochlear duct; ; ascending aorta; ; neural layer of retina; ; aortic valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	endosome; centrosome; intracellular membrane-bounded organelle; late endosome membrane; membrane; nucleoplasm; endosome membrane; nucleus; cytosol; ESCRT I complex; host cell;
Biological process	viral budding via host ESCRT complex; viral life cycle; multivesicular body assembly; endosomal transport; protein transport; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; macroautophagy; endosome transport via multivesicular body sorting pathway; protein targeting to membrane; protein targeting to vacuole; intracellular transport of virus;
	Sources:Amigo / QuickGO
Orthologs
	137492
	52348
	ENSG00000155975
	ENSMUSG00000031600
	Q8NEZ2
	Q8CHS8
	NM_001145152; NM_152415
	NM_033560
NP_001138624; NP_689628; NP_001350096; NP_001350097; NP_001350098;
	NP_001350099; NP_001350100; NP_001350101; NP_001350102
	NP_291038
	Wikidata
View/Edit Human	View/Edit Mouse

Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.^[5] It is a member of the endosomal sorting complex required for transport (ESCRT) system.^[6]

Clinical significance

A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155975 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031600 – 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 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.
^ Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (September 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell. 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.
^ Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (June 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650. S2CID 30471834.

Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H (2010). "Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications". Biochemical and Biophysical Research Communications. 399 (2): 232–237. doi:10.1016/j.bbrc.2010.07.060. PMID 20654576.
Levy D, Larson MG, Benjamin EJ, Newton-Cheh C, Wang TJ, Hwang SJ, Vasan RS, Mitchell GF (2007). "Framingham Heart Study 100K Project: Genome-wide associations for blood pressure and arterial stiffness". BMC Medical Genetics. 8 (Suppl 1): S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621. PMID 17903302.
Xu Z, Liang L, Wang H, Li T, Zhao M (2003). "HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein". Biochemical and Biophysical Research Communications. 311 (4): 1057–1066. doi:10.1016/j.bbrc.2003.10.109. PMID 14623289.
Eastman SW, Martin-Serrano J, Chung W, Zang T, Bieniasz PD (2004). "Identification of human VPS37C, a component of ESCRT-I important for viral budding". Journal of Biological Chemistry. 280 (1): 628–636. doi:10.1074/jbc.M410384200. PMID 15509564.
Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (1998). "Polar Amino Acid-Rich Sequences Bind to Polyglutamine Tracts". Biochemical and Biophysical Research Communications. 253 (1): 16–20. doi:10.1006/bbrc.1998.9725. PMID 9875212.
Stuchell MD, Garrus JE, Müller B, Stray KM, Ghaffarian S, McKinnon R, Kräusslich HG, Morham SG, Sundquist WI (2004). "The Human Endosomal Sorting Complex Required for Transport (ESCRT-I) and Its Role in HIV-1 Budding". Journal of Biological Chemistry. 279 (34): 36059–36071. doi:10.1074/jbc.M405226200. PMID 15218037.
Lippincott-Schwartz J, Roberts TH, Hirschberg K (2000). "Secretoryproteintrafficking Andorganelledynamics Inlivingcells1". Annual Review of Cell and Developmental Biology. 16: 557–589. doi:10.1146/annurev.cellbio.16.1.557. PMC 4781643. PMID 11031247.

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155975 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031600 – 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 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.

[pmid15240819-6] Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (September 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell. 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.

[pmid22717650-7] Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (June 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650. S2CID 30471834.

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Clinical significance

References

Further reading