VPS37A
Identifiers
AliasesVPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDsOMIM: 609927 MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Orthologs
SpeciesHumanMouse
Entrez

137492

52348

Ensembl

ENSG00000155975

ENSMUSG00000031600

UniProt

Q8NEZ2

Q8CHS8

RefSeq (mRNA)

NM_001145152
NM_152415

NM_033560

RefSeq (protein)

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000155975 - Ensembl, May 2017
  2. 1 2 3 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


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