HSPA9

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HSPA9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHSPA9, CSA, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, CRP40, EVPLS, SAAN, SIDBA4, heat shock protein family A (Hsp70) member 9
External IDsOMIM: 600548 MGI: 96245 HomoloGene: 39452 GeneCards: HSPA9
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004134

NM_010481

RefSeq (protein)

NP_004125

NP_034611

Location (UCSC)Chr 5: 138.55 – 138.58 MbChr 18: 35.07 – 35.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a protein that in humans is encoded by the HSPA9 gene.[5][6]

Function

The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of cell proliferation. It may also act as a chaperone.[6]

Interactions

HSPA9 has been shown to interact with FGF1[7] and P53.[8]

Clinical relevance and genetic deficiency

In 2015, a group around Andrea Superti-Furga showed that biallelic variants in the HSPA9 gene may result in a combination of congenital malformations called the EVEN-PLUS syndrome.[9][10] These genetic variants have been shown to interfere with normal HSPA9 function [11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113013 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024359 - 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. ^ Domanico SZ, DeNagel DC, Dahlseid JN, Green JM, Pierce SK (Jun 1993). "Cloning of the gene encoding peptide-binding protein 74 shows that it is a new member of the heat shock protein 70 family". Mol Cell Biol. 13 (6): 3598–610. doi:10.1128/mcb.13.6.3598. PMC 359829. PMID 7684501.
  6. ^ a b "Entrez Gene: HSPA9 heat shock 70kDa protein 9 (mortalin)".
  7. ^ Mizukoshi E, Suzuki M, Loupatov A, Uruno T, Hayashi H, Misono T, Kaul SC, Wadhwa R, Imamura T (Oct 1999). "Fibroblast growth factor-1 interacts with the glucose-regulated protein GRP75/mortalin". Biochem. J. 343 (2): 461–6. doi:10.1042/0264-6021:3430461. PMC 1220575. PMID 10510314.
  8. ^ Wadhwa R, Yaguchi T, Hasan MK, Mitsui Y, Reddel RR, Kaul SC (Apr 2002). "Hsp70 family member, mot-2/mthsp70/GRP75, binds to the cytoplasmic sequestration domain of the p53 protein". Exp. Cell Res. 274 (2): 246–53. doi:10.1006/excr.2002.5468. PMID 11900485.
  9. ^ Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, et al. (November 2015). "Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia". Scientific Reports. 5: 17154. Bibcode:2015NatSR...517154R. doi:10.1038/srep17154. PMC 4657157. PMID 26598328.
  10. ^ "MIM 616854: Even Plus Syndrome". OMIM.
  11. ^ Moseng MA, Nix JC, Page RC (April 2019). "Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin". The Journal of Physical Chemistry B. 123 (16): 3383–3396. doi:10.1021/acs.jpcb.9b00071. PMC 6483861. PMID 30933555.

Further reading

External links