VPS37A

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]

VPS37A
Identifiers
Aliases	VPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDs	OMIM: 609927 MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p22 Start 17,246,571 bp[1] End 17,302,427 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A4|8 23.89 cM Start 40,511,783 bp[2] End 40,551,134 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • endosome • centrosome • intracellular membrane-bounded organelle • late endosome membrane • membrane • nucleoplasm • endosome membrane • cell nucleus • cytosol • ESCRT I complex • host cell Biological process • viral budding via host ESCRT complex • GO:0019067 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 • GO:0046795 intracellular transport of virus Sources:Amigo / QuickGO
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 NP_689628 NP_001350096 NP_001350097 NP_001350098 NP_001350099 NP_001350100 NP_001350101 NP_001350102	NP_291038
Location (UCSC)	Chr 8: 17.25 – 17.3 Mb	Chr 8: 40.51 – 40.55 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical significance

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

References

1. GRCh38: Ensembl release 89: ENSG00000155975 - Ensembl, May 2017
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.
5. "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.
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.
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.

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 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.