VPS37A explained

Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.^[1] It is a member of the endosomal sorting complex required for transport (ESCRT) system.^[2]

Clinical significance

A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).^[3]

Further reading

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

Notes and References

1. Web site: Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae) . 2012-04-20 .
2. Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H . 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 . September 2004 . 15240819 . 515363 . 10.1091/mbc.E04-03-0250 .
3. 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 . A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis . J Med Genet . 49 . 7 . 462–72 . June 2012 . 22717650 . 10.1136/jmedgenet-2012-100742 . 30471834 .