HSPA9

Last updated
HSPA9
HSPA9.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases HSPA9 , 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 IDs OMIM: 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 Mb Chr 18: 35.07 – 35.09 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

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]

Related Research Articles

<span class="mw-page-title-main">Hop (protein)</span> Protein-coding gene in the species Homo sapiens

Hop, occasionally written HOP, is an abbreviation for Hsp70-Hsp90 Organizing Protein. It functions as a co-chaperone which reversibly links together the protein chaperones Hsp70 and Hsp90.

<span class="mw-page-title-main">HSPA8</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 8 also known as heat shock cognate 71 kDa protein or Hsc70 or Hsp73 is a heat shock protein that in humans is encoded by the HSPA8 gene on chromosome 11. As a member of the heat shock protein 70 family and a chaperone protein, it facilitates the proper folding of newly translated and misfolded proteins, as well as stabilize or degrade mutant proteins. Its functions contribute to biological processes including signal transduction, apoptosis, autophagy, protein homeostasis, and cell growth and differentiation. It has been associated with an extensive number of cancers, neurodegenerative diseases, cell senescence, and aging.

<span class="mw-page-title-main">Coilin</span> Protein found in humans

Coilin is a protein that in humans is encoded by the COIL gene. Coilin got its name from the coiled shape of the Cajal bodies in which it is found. It was first identified using human autoimmune serum.

<span class="mw-page-title-main">HSPA1A</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 1, also termed Hsp72, is a protein that in humans is encoded by the HSPA1A gene. As a member of the heat shock protein 70 family and a chaperone protein, it facilitates the proper folding of newly translated and misfolded proteins, as well as stabilize or degrade mutant proteins. In addition, Hsp72 also facilitates DNA repair. Its functions contribute to biological processes including signal transduction, apoptosis, protein homeostasis, and cell growth and differentiation. It has been associated with an extensive number of cancers, neurodegenerative diseases, cell senescence and aging, and inflammatory diseases such as Diabetes mellitus type 2 and rheumatoid arthritis.

<span class="mw-page-title-main">HSPA1B</span> Human gene

Human gene HSPA1B is an intron-less gene which encodes for the heat shock protein HSP70-2, a member of the Hsp70 family of proteins. The gene is located in the major histocompatibility complex, on the short arm of chromosome 6, in a cluster with two paralogous genes, HSPA1A and HSPA1L. HSPA1A and HSPA1B produce nearly identical proteins because the few differences in their DNA sequences are almost exclusively synonymous substitutions or in the three prime untranslated region, heat shock 70kDa protein 1A, from HSPA1A, and heat shock 70kDa protein 1B, from HSPA1B. A third, more modified paralog to these genes exists in the same region, HSPA1L, which shares a 90% homology with the other two.

<span class="mw-page-title-main">HSF1</span> Protein-coding gene in the species Homo sapiens

Heat shock factor 1 is a protein that in humans is encoded by the HSF1 gene. HSF1 is highly conserved in eukaryotes and is the primary mediator of transcriptional responses to proteotoxic stress with important roles in non-stress regulation such as development and metabolism.

<span class="mw-page-title-main">ID2</span> Protein-coding gene in the species Homo sapiens

DNA-binding protein inhibitor ID-2 is a protein that in humans is encoded by the ID2 gene.

<span class="mw-page-title-main">HSP90AB1</span> Protein-coding gene in the species Homo sapiens

Heat shock protein HSP 90-beta also called HSP90beta is a protein that in humans is encoded by the HSP90AB1 gene.

<span class="mw-page-title-main">DNAJA3</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily A member 3, mitochondrial, also known as Tumorous imaginal disc 1 (TID1), is a protein that in humans is encoded by the DNAJA3 gene on chromosome 16. This protein belongs to the DNAJ/Hsp40 protein family, which is known for binding and activating Hsp70 chaperone proteins to perform protein folding, degradation, and complex assembly. As a mitochondrial protein, it is involved in maintaining membrane potential and mitochondrial DNA (mtDNA) integrity, as well as cellular processes such as cell movement, growth, and death. Furthermore, it is associated with a broad range of diseases, including neurodegenerative diseases, inflammatory diseases, and cancers.

<span class="mw-page-title-main">HSPA4</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 4 is a protein that in humans is encoded by the HSPA4 gene.

<span class="mw-page-title-main">DDX5</span> Protein-coding gene in Homo sapiens

Probable ATP-dependent RNA helicase DDX5 also known as DEAD box protein 5 or RNA helicase p68 is an enzyme that in humans is encoded by the DDX5 gene.

<span class="mw-page-title-main">ST13</span>

Hsc70-interacting protein also known as suppression of tumorigenicity 13 (ST13) is a protein that in humans is encoded by the ST13 gene.

<span class="mw-page-title-main">HSPB2</span> Protein-coding gene in the species Homo sapiens

Heat shock protein beta-2 is a protein that in humans is encoded by the HSPB2 gene.

<span class="mw-page-title-main">HSPA1L</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 1L is a protein that in humans is encoded by the HSPA1L gene on chromosome 6. As a member of the heat shock protein 70 (Hsp70) family and a chaperone protein, it facilitates the proper folding of newly translated and misfolded proteins, as well as stabilize or degrade mutant proteins. Its functions contribute to biological processes including signal transduction, apoptosis, protein homeostasis, and cell growth and differentiation. It has been associated with an extensive number of cancers, neurodegenerative diseases, cell senescence and aging, and Graft-versus-host disease.

<span class="mw-page-title-main">TOPORS</span> Protein-coding gene in the species Homo sapiens

E3 ubiquitin-protein ligase Topors is an enzyme that in humans is encoded by the TOPORS gene.

<span class="mw-page-title-main">HSPA2</span> Protein-coding gene in the species Homo sapiens

Heat shock-related 70 kDa protein 2 is a protein that in humans is encoded by the HSPA2 gene.

<span class="mw-page-title-main">HSF2</span> Protein-coding gene in the species Homo sapiens

Heat shock factor protein 2 is a protein that in humans is encoded by the HSF2 gene.

<span class="mw-page-title-main">CCAAT/enhancer binding protein zeta</span> Protein-coding gene in the species Homo sapiens

CCAAT/enhancer-binding protein zeta is a protein that in humans is encoded by the CEBPZ gene.

<span class="mw-page-title-main">HSPA14</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 14 also known as HSP70-like protein 1 or heat shock protein HSP60 is a protein that in humans is encoded by the HSPA14 gene.

<span class="mw-page-title-main">HSPA6</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 6 is a protein that in humans is encoded by the HSPA6 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000113013 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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