VPS37A

Last updated
VPS37A
Identifiers
Aliases VPS37A , HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDs OMIM: 609927 MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Gene location (Human)
Ideogram human chromosome 8.svg
Chr. Chromosome 8 (human) [1]
Human chromosome 8 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 8p22Start17,246,571 bp [1]
End17,302,427 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145152
NM_152415

NM_033560

RefSeq (protein)

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]

Related Research Articles

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VPS24

Charged multivesicular body protein 3 is a protein that in humans is encoded by the VPS24 gene.

VPS4A

Vacuolar protein sorting-associated protein 4A is a protein that in humans is encoded by the VPS4A gene.

VPS4B

Vacuolar protein sorting-associated protein 4B is a protein that in humans is encoded by the VPS4B gene.

VPS28

Vacuolar protein sorting-associated protein 28 homolog is a protein that in humans is encoded by the VPS28 gene.

VPS29

VPS29 is a human gene coding for the vacuolar protein sorting protein Vps29, a component of the retromer complex.

ALG2

Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene. Mutations in the human gene are associated with congenital defects in glycosylation The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase.

VPS45

Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.

CHMP6

Charged multivesicular body protein 6 is a protein that in humans is encoded by the CHMP6 gene.

CHMP1A

Charged multivesicular body protein 1a is a protein that in humans is encoded by the CHMP1A gene.

VPS36

Vacuolar protein-sorting-associated protein 36 is a protein that in humans is encoded by the VPS36 gene.

VPS11

Vacuolar protein sorting-associated protein 11 homolog is a protein that in humans is encoded by the VPS11 gene.

CHMP1B

Charged multivesicular body protein 1b is a protein that in humans is encoded by the CHMP1B gene.

VPS18

Vacuolar protein sorting-associated protein 18 homolog is a protein that in humans is encoded by the VPS18 gene.

SNF8

Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene.

VPS72

Vacuolar protein sorting-associated protein 72 homolog is a protein that in humans is encoded by the VPS72 gene.

VPS33A

Vacuolar protein sorting-associated protein 33A is a protein that in humans is encoded by the VPS33A gene.

VPS25

Vacuolar protein-sorting-associated protein 25 is a protein that in humans is encoded by the VPS25 gene.

The endosomal sorting complexes required for transport (ESCRT) machinery is made up of cytosolic protein complexes, known as ESCRT-0, ESCRT-I, ESCRT-II, and ESCRT-III. Together with a number of accessory proteins, these ESCRT complexes enable a unique mode of membrane remodeling that results in membranes bending/budding away from the cytoplasm. These ESCRT components have been isolated and studied in a number of organisms including yeast and humans. An eukaryotic signature protein, the machinery is found in all eukaryotes and some archaea.

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