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) [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]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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

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

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. S2CID   30471834.

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 (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.