VPS37A
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.{{cite web | title = Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae) | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=137492 | access-date = 2012-04-20 }} It is a member of the endosomal sorting complex required for transport (ESCRT) system.{{cite journal | vauthors = Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H | title = The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation | journal = Mol. Biol. Cell | volume = 15 | issue = 9 | pages = 4337–46 | date = September 2004 | pmid = 15240819 | pmc = 515363 | doi = 10.1091/mbc.E04-03-0250 }}
Clinical significance
A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).{{cite journal | vauthors = 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 | title = A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis | journal = J Med Genet | volume = 49 | issue = 7 | pages = 462–72 | date = June 2012 | pmid = 22717650 | doi = 10.1136/jmedgenet-2012-100742 | s2cid = 30471834 }}
References
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Further reading
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- {{cite journal | vauthors = Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H | title = Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications | journal = Biochemical and Biophysical Research Communications | volume = 399 | issue = 2 | pages = 232–237 | year = 2010 | pmid = 20654576 | doi = 10.1016/j.bbrc.2010.07.060 }}
- {{cite journal | vauthors = Levy D, Larson MG, Benjamin EJ, Newton-Cheh C, Wang TJ, Hwang SJ, Vasan RS, Mitchell GF | title = Framingham Heart Study 100K Project: Genome-wide associations for blood pressure and arterial stiffness | journal = BMC Medical Genetics | volume = 8 | pages = S3 | year = 2007 | issue = Suppl 1 | pmid = 17903302 | pmc = 1995621 | doi = 10.1186/1471-2350-8-S1-S3 | doi-access = free }}
- {{cite journal | vauthors = Xu Z, Liang L, Wang H, Li T, Zhao M | title = HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein | journal = Biochemical and Biophysical Research Communications | volume = 311 | issue = 4 | pages = 1057–1066 | year = 2003 | pmid = 14623289 | doi = 10.1016/j.bbrc.2003.10.109 }}
- {{cite journal | vauthors = Eastman SW, Martin-Serrano J, Chung W, Zang T, Bieniasz PD | title = Identification of human VPS37C, a component of ESCRT-I important for viral budding | journal = Journal of Biological Chemistry | volume = 280 | issue = 1 | pages = 628–636 | year = 2004 | pmid = 15509564 | doi = 10.1074/jbc.M410384200 | doi-access = free }}
- {{cite journal | vauthors = Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = Polar Amino Acid-Rich Sequences Bind to Polyglutamine Tracts | journal = Biochemical and Biophysical Research Communications | volume = 253 | issue = 1 | pages = 16–20 | year = 1998 | pmid = 9875212 | doi = 10.1006/bbrc.1998.9725 }}
- {{cite journal | vauthors = Stuchell MD, Garrus JE, Müller B, Stray KM, Ghaffarian S, McKinnon R, Kräusslich HG, Morham SG, Sundquist WI | title = The Human Endosomal Sorting Complex Required for Transport (ESCRT-I) and Its Role in HIV-1 Budding | journal = Journal of Biological Chemistry | volume = 279 | issue = 34 | pages = 36059–36071 | year = 2004 | pmid = 15218037 | doi = 10.1074/jbc.M405226200 | doi-access = free }}
- {{cite journal | vauthors = Lippincott-Schwartz J, Roberts TH, Hirschberg K | title = Secretoryproteintrafficking Andorganelledynamics Inlivingcells1 | journal = Annual Review of Cell and Developmental Biology | volume = 16 | pages = 557–589 | year = 2000 | pmid = 11031247 | pmc = 4781643| doi = 10.1146/annurev.cellbio.16.1.557 }}
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