HSPA9 heat shock protein family A (Hsp70) member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPA9provided by HGNC
Official Full Name: heat shock protein family A (Hsp70) member 9provided by HGNC
Primary source: HGNC:HGNC:5244
See related: Ensembl:ENSG00000113013 MIM:600548; AllianceGenome:HGNC:5244
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSA; MOT; MOT2; SAAN; CRP40; EVPLS; GRP75; PBP74; GRP-75; HSPA9B; SIDBA4; MTHSP75; HEL-S-124m
Summary: This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
Expression: Ubiquitous expression in adrenal (RPKM 109.2), thyroid (RPKM 92.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (138553756..138575401, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (139080003..139101647, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (137889445..137911090, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GRP75 triggers white adipose tissue browning to promote cancer-associated cachexia.
Title: GRP75 triggers white adipose tissue browning to promote cancer-associated cachexia.
Tumor suppressor KEAP1 promotes HSPA9 degradation, controlling mitochondrial biogenesis in breast cancer.
Title: Tumor suppressor KEAP1 promotes HSPA9 degradation, controlling mitochondrial biogenesis in breast cancer.
Estrogen-related receptor alpha promotes thyroid tumor cell survival via a tumor subtype-specific regulation of target gene networks.
Title: Estrogen-related receptor alpha promotes thyroid tumor cell survival via a tumor subtype-specific regulation of target gene networks.
HSPA9/mortalin inhibition disrupts erythroid maturation through a TP53-dependent mechanism in human CD34+ hematopoietic progenitor cells.
Title: HSPA9/mortalin inhibition disrupts erythroid maturation through a TP53-dependent mechanism in human CD34+ hematopoietic progenitor cells.
OMA1 competitively binds to HSPA9 to promote mitophagy and activate the cGAS-STING pathway to mediate GBM immune escape.
Title: OMA1 competitively binds to HSPA9 to promote mitophagy and activate the cGAS-STING pathway to mediate GBM immune escape.
METTL3-mediated HSPA9 m6A modification promotes malignant transformation and inhibits cellular senescence by regulating exosomal mortalin protein in cervical cancer.
Title: METTL3-mediated HSPA9 m6A modification promotes malignant transformation and inhibits cellular senescence by regulating exosomal mortalin protein in cervical cancer.
Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Title: Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Clinical Relevance of Mortalin in Ovarian Cancer Patients.
Title: Clinical Relevance of Mortalin in Ovarian Cancer Patients.
The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway.
Title: The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway.
Effect of Mortalin on Scar Formation in Human Dermal Fibroblasts and a Rat Incisional Scar Model.
Title: Effect of Mortalin on Scar Formation in Human Dermal Fibroblasts and a Rat Incisional Scar Model.

Submit: New GeneRIF Correction See all GeneRIFs (119)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant sideroblastic anemia MedGen: C4225428 OMIM: 182170 GeneReviews: Not available	not available
Even-plus syndrome MedGen: C4225180 OMIM: 616854 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 9B (HSPA9B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	Over expression of hsp70 with a herpes viral amplicon vector protects cultured hippocampal rat neurons from gp120 neurotoxicity	PubMed
	env	The exposure of permissive CD4+ cells to HIV-1 gp120 increases the synthesis and nuclear translocation of 70kDa heat shock protein	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 9B (HSPA9B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Mortalin binds HIV-1 Nef via the Nef secretion modification region (amino acids 66 to 70), which is required for exosomal Nef secretion	PubMed
	nef	The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein heat shock 70kDa protein 9 (HSPA9) in cells	PubMed
	nef	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 9B (HSPA9B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	nef	Heat shock proteins Hsp40 and Hsp70 interact with HIV-1 Nef and form a complex in cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 9B (HSPA9B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	gag	Hsp70 is incorporated into HIV-1 virions through an interaction with HIV-1 Gag	PubMed
	gag	Hsp70 co-sediments with HIV-1 capsid protein in sucrose density gradients, providing evidence that it is specifically incorporated into HIV-1 virions through an interaction with HIV-1 Gag proteins	PubMed
Vpr	vpr	HIV-1 Vpr is required for the inhibitory effect of Hsp70 on viral gene expression and replication	PubMed
	vpr	HIV-1 Vpr competes with Hsp70 for binding to karyopherin alpha	PubMed
matrix	gag	Hsp70 facilitates nuclear import of HIV-1 preintegration complexes by stimulating the binding of HIV-1 Matrix to karyopherin alpha	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

RH47439 (e-PCR)
- UniSTS:40740

BARC0023 (e-PCR)
- UniSTS:255309

D1S1423 (e-PCR)
- UniSTS:149619

Bda02f10 (e-PCR)
- UniSTS:88698

D5S2414 (e-PCR)
- UniSTS:11900

D5S1564E (e-PCR)
- UniSTS:10884

GDB:451580 (e-PCR)
- UniSTS:157317

A002P41 (e-PCR)
- UniSTS:40617

HSPA9B_1300 (e-PCR)
- UniSTS:280768

RH67940 (e-PCR)
- UniSTS:91334

RH69016 (e-PCR)
- UniSTS:9454

D11S2875 (e-PCR)
- UniSTS:152053

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables heat shock protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in iron-sulfur cluster assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hematopoietic stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MIB complex	HDA more info	PubMed
part_of SAM complex	HDA more info	PubMed
part_of TIM23 mitochondrial import inner membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: stress-70 protein, mitochondrial

Names: 75 kDa glucose-regulated protein; catecholamine-regulated protein 40; epididymis secretory sperm binding protein Li 124m; heat shock 70kD protein 9B; heat shock 70kDa protein 9 (mortalin); heat shock protein family A member 9; mortalin, perinuclear; mortalin-2; mortalin2; p66-mortalin; peptide-binding protein 74

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.