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

Gene ID: 3313, updated on 20-Apr-2019

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
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

Genomic context

See HSPA9 in Genome Data Viewer
Location:
5q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138554882..138575629, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137890571..137911318, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 19 Neighboring gene eukaryotic translation termination factor 1 Neighboring gene uncharacterized LOC105379193 Neighboring gene small nucleolar RNA, C/D box 63B Neighboring gene small nucleolar RNA, C/D box 63 Neighboring gene ribosomal protein L10a pseudogene 10 Neighboring gene uncharacterized LOC105379194 Neighboring gene catenin alpha 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anemia, sideroblastic, 4
MedGen: C4225428 OMIM: 182170 GeneReviews: Not available
Compare labs
Even-plus syndrome
MedGen: C4225180 OMIM: 616854 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

HIV-1 interactions

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
Tat tat Hsp70 and Hsp90 and Cdc37 regulate the stabilization and folding of CDK9 as well as the assembly of an active CDK9/cyclin T1 complex responsible for P-TEFb-mediated HIV-1 Tat transactivation 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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
    Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
  • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
    Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • Regulation of HSF1-mediated heat shock response, organism-specific biosystem (from REACTOME)
    Regulation of HSF1-mediated heat shock response, organism-specific biosystemThe ability of HSF1 to respond to cellular stresses is under negative regulation by chaperones, modulation of nucleocytoplasmic shuttling, post-translational modifications and transition from monomer...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4500

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity, coupled IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding HDA PubMed 
heat shock protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
misfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding involved in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to heat IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to unfolded protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone cofactor-dependent protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
iron-sulfur cluster assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to unfolded protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)
mortalin, perinuclear
mortalin-2
mortalin2
p66-mortalin
peptide-binding protein 74

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029469.1 RefSeqGene

    Range
    5229..26874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004134.7NP_004125.3  stress-70 protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004125.3

    Status: REVIEWED

    Source sequence(s)
    AC011385, AK225488, AK315177
    Consensus CDS
    CCDS4208.1
    UniProtKB/Swiss-Prot
    P38646
    Related
    ENSP00000496940.1, ENST00000649126.1
    Conserved Domains (1) summary
    PRK00290
    Location:52673
    dnaK; molecular chaperone DnaK; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    138554882..138575629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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