VPS37A

Protein-coding gene in the species Homo sapiens
VPS37A
Identifiers
AliasesVPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDsOMIM: 609927; MGI: 1261835; HomoloGene: 45120; GeneCards: VPS37A; OMA:VPS37A - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for VPS37A
Genomic location for VPS37A
Band8p22Start17,246,571 bp[1]
End17,302,427 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for VPS37A
Genomic location for VPS37A
Band8 A4|8 23.89 cMStart40,511,783 bp[2]
End40,551,134 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 8: 40.51 – 40.55 Mb
PubMed search[3][4]
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.[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. ^ a b c GRCh38: Ensembl release 89: ENSG00000155975 – Ensembl, May 2017
  2. ^ a b c 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.


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