HSPA9

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

HSPA9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3N8E, 4KBO
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; OMA:HSPA9 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.2 Start 138,553,756 bp[1] End 138,575,675 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 B1|18 18.8 cM Start 35,070,467 bp[2] End 35,087,410 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal gland right adrenal cortex left adrenal gland left adrenal cortex epithelium of colon muscle of thigh ventricular zone Achilles tendon gastrocnemius muscle islet of Langerhans Top expressed in Ileal epithelium primitive streak Paneth cell endothelial cell of lymphatic vessel right kidney epiblast medullary collecting duct interventricular septum muscle of thigh adrenal gland More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding unfolded protein binding protein binding ATP binding ubiquitin protein ligase binding RNA binding ATPase activity heat shock protein binding protein folding chaperone activity misfolded protein binding enzyme binding Cellular component cytoplasm focal adhesion nucleolus mitochondrion mitochondrial nucleoid extracellular exosome nucleus extracellular matrix mitochondrial matrix Biological process negative regulation of apoptotic process protein folding negative regulation of erythrocyte differentiation erythrocyte differentiation interleukin-12-mediated signaling pathway response to unfolded protein iron-sulfur cluster assembly cellular response to heat Unfolded Protein Response protein refolding regulation of erythrocyte differentiation chaperone cofactor-dependent protein refolding protein export from nucleus negative regulation of hematopoietic stem cell differentiation negative regulation of hemopoiesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3313 15526 Ensembl ENSG00000113013 ENSMUSG00000024359 UniProt P38646 P38647 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
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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]