VPS37A

VPS37A
Identifiers
Aliases VPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDs MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Orthologs
Species Human Mouse
Entrez

137492

52348

Ensembl

ENSG00000155975

ENSMUSG00000031600

UniProt

Q8NEZ2

Q8CHS8

RefSeq (mRNA)

NM_001145152
NM_152415

NM_033560

RefSeq (protein)

NP_001138624.1
NP_689628.2

NP_291038.2

Location (UCSC) Chr 8: 17.25 – 17.3 Mb Chr 8: 40.51 – 40.55 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.[3] It is a member of the endosomal sorting complex required for transport (ESCRT) system.[4]

Clinical significance

A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).[5]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.
  4. ↑ 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 515363Freely accessible. PMID 15240819.
  5. ↑ 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.

Further reading

  • 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: S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621Freely accessible. 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. PMID 11031247. 


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