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Aliases for HSPA9 Gene

Aliases for HSPA9 Gene

  • Heat Shock Protein Family A (Hsp70) Member 9 2 3 5
  • Heat Shock 70kDa Protein 9 (Mortalin) 2 3
  • 75 KDa Glucose-Regulated Protein 3 4
  • Peptide-Binding Protein 74 3 4
  • Mortalin2 2 3
  • HSPA9B 3 4
  • GRP-75 3 4
  • GRP75 3 4
  • PBP74 3 4
  • MOT 3 4
  • Epididymis Secretory Sperm Binding Protein Li 124m 3
  • Heat Shock 70kDa Protein 9B (Mortalin-2) 2
  • Catecholamine-Regulated Protein 40 3
  • Stress-70 Protein, Mitochondrial 3
  • Heat Shock 70 KDa Protein 9 4
  • Heat Shock 70kD Protein 9B 3
  • Mortalin, Perinuclear 3
  • P66-Mortalin 3
  • HEL-S-124m 3
  • Mortalin-2 3
  • Mortalin 4
  • Mt-HSP70 4
  • MTHSP75 3
  • SIDBA4 3
  • CRP40 3
  • EVPLS 3
  • MOT2 3
  • SAAN 3
  • CSA 3

External Ids for HSPA9 Gene

Previous HGNC Symbols for HSPA9 Gene

  • HSPA9B

Previous GeneCards Identifiers for HSPA9 Gene

  • GC05M137920
  • GC05M137923
  • GC05M133080
  • GC05M137890

Summaries for HSPA9 Gene

Entrez Gene Summary for HSPA9 Gene

  • 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]

GeneCards Summary for HSPA9 Gene

HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9) is a Protein Coding gene. Diseases associated with HSPA9 include Even-Plus Syndrome and Autosomal Recessive Sideroblastic Anemia. Among its related pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Tuberculosis. GO annotations related to this gene include poly(A) RNA binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for HSPA9 Gene

  • Chaperone protein which is implicated in the control of cell proliferation and cellular aging. Plays a role in the erythropoiesis process.

Gene Wiki entry for HSPA9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPA9 Gene

Genomics for HSPA9 Gene

Regulatory Elements for HSPA9 Gene

Enhancers for HSPA9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G138458 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +116.2 116170 2.0 ELF3 PKNOX1 ATF1 MLX ARID4B DNMT3B ZSCAN9 RARA SLC30A9 IKZF2 REEP2 ENSG00000222937 SNORD63 HSPA9 LRRTM2 CDC25C FAM53C FAM13B ETF1 EGR1
GH05G138695 1.6 Ensembl ENCODE dbSUPER 10.2 -120.8 -120816 1.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 FOS LOC105379194 HNRNPA0 CDC23 KDM3B CTNNA1 HSPA9 ENSG00000222937 SNORD63 ENSG00000238745
GH05G138723 1.5 Ensembl ENCODE dbSUPER 10.2 -149.5 -149539 3.4 PKNOX1 SIN3A DMAP1 ZNF48 YY1 ZNF207 ZNF263 ZHX2 ZNF592 KAT8 LOC105379194 HNRNPA0 KDM3B CTNNA1 HSPA9 CDC23 ENSG00000238745
GH05G138752 1.4 ENCODE dbSUPER 10.2 -178.5 -178488 3.4 FOXA2 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 LOC105379194 DNAJC18 LRRTM2 HSPA9 GC05P138766
GH05G138741 1.3 FANTOM5 Ensembl ENCODE 10.4 -166.8 -166823 1.4 ELF3 CTCF ARID4B ZNF384 RAD21 ZNF101 TEAD3 ZNF366 POLR2A FOXK2 LOC105379194 HSPA9 CTNNA1 ENSG00000238745
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSPA9 on UCSC Golden Path with GeneCards custom track

Promoters for HSPA9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187507 529 2201 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 SP3 MEF2D ZNF610

Genomic Location for HSPA9 Gene

Chromosome:
5
Start:
138,554,882 bp from pter
End:
138,575,629 bp from pter
Size:
20,748 bases
Orientation:
Minus strand

Genomic View for HSPA9 Gene

Genes around HSPA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPA9 Gene

Proteins for HSPA9 Gene

  • Protein details for HSPA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38646-GRP75_HUMAN
    Recommended name:
    Stress-70 protein, mitochondrial
    Protein Accession:
    P38646
    Secondary Accessions:
    • B2RCM1
    • P30036
    • P31932
    • Q1HB43
    • Q53H23
    • Q6GU03
    • Q9BWB7
    • Q9UC56

    Protein attributes for HSPA9 Gene

    Size:
    679 amino acids
    Molecular mass:
    73680 Da
    Quaternary structure:
    • Interacts with FXN. Interacts with HSCB. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. Interacts with DNLZ, the interaction is required to prevent self-aggregation. Interacts with TESPA1.

    Three dimensional structures from OCA and Proteopedia for HSPA9 Gene

neXtProt entry for HSPA9 Gene

Post-translational modifications for HSPA9 Gene

  • Ubiquitination at isoforms=121 and isoforms=646
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HSPA9 (HSPA9B)
  • Cloud-Clone Corp. Antibodies for HSPA9
  • Santa Cruz Biotechnology (SCBT) Antibodies for HSPA9

No data available for DME Specific Peptides for HSPA9 Gene

Domains & Families for HSPA9 Gene

Gene Families for HSPA9 Gene

Suggested Antigen Peptide Sequences for HSPA9 Gene

Graphical View of Domain Structure for InterPro Entry

P38646

UniProtKB/Swiss-Prot:

GRP75_HUMAN :
  • Belongs to the heat shock protein 70 family.
Family:
  • Belongs to the heat shock protein 70 family.
genes like me logo Genes that share domains with HSPA9: view

Function for HSPA9 Gene

Molecular function for HSPA9 Gene

UniProtKB/Swiss-Prot Function:
Chaperone protein which is implicated in the control of cell proliferation and cellular aging. Plays a role in the erythropoiesis process.

Gene Ontology (GO) - Molecular Function for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 10411904
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
genes like me logo Genes that share ontologies with HSPA9: view
genes like me logo Genes that share phenotypes with HSPA9: view

Human Phenotype Ontology for HSPA9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPA9 Gene

Localization for HSPA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPA9 Gene

Mitochondrion. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPA9 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm TAS 7684501
GO:0005739 mitochondrion TAS,IDA 16130169
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with HSPA9: view

Pathways & Interactions for HSPA9 Gene

genes like me logo Genes that share pathways with HSPA9: view

SIGNOR curated interactions for HSPA9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HSPA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA --
GO:0006611 protein export from nucleus IEA --
GO:0030218 erythrocyte differentiation IMP 21123823
GO:0043066 negative regulation of apoptotic process TAS 16130169
GO:0045647 negative regulation of erythrocyte differentiation IMP 21123823
genes like me logo Genes that share ontologies with HSPA9: view

Drugs & Compounds for HSPA9 Gene

(6) Drugs for HSPA9 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MKT 077 Pharma Binds mot-2; selectively cytotoxic in cancer cells 0

(2) Additional Compounds for HSPA9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for HSPA9 Gene

Compound Action Cas Number
MKT 077 147366-41-4
genes like me logo Genes that share compounds with HSPA9: view

Transcripts for HSPA9 Gene

Unigene Clusters for HSPA9 Gene

Heat shock 70kDa protein 9 (mortalin):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPA9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: - - - - - - - -
SP7:
SP8:
SP9: - - - -

ExUns: 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - - - -

Relevant External Links for HSPA9 Gene

GeneLoc Exon Structure for
HSPA9
ECgene alternative splicing isoforms for
HSPA9

Expression for HSPA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPA9 Gene

Protein differential expression in normal tissues from HIPED for HSPA9 Gene

This gene is overexpressed in Nasal epithelium (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSPA9 Gene



Protein tissue co-expression partners for HSPA9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPA9 Gene:

HSPA9

SOURCE GeneReport for Unigene cluster for HSPA9 Gene:

Hs.184233

Evidence on tissue expression from TISSUES for HSPA9 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Muscle(4.7)
  • Lung(4.2)
  • Skin(4.2)
  • Kidney(4.1)
  • Intestine(3.9)
  • Blood(3.7)
  • Heart(3.4)
  • Adrenal gland(2.9)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Eye(2.4)
  • Gall bladder(2.4)
  • Lymph node(2.4)
  • Pancreas(2.4)
  • Stomach(2.4)
  • Thyroid gland(2.4)
  • Bone(2)
genes like me logo Genes that share expression patterns with HSPA9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPA9 Gene

Orthologs for HSPA9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPA9 34 35
  • 99.85 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPA9 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPA9 34 35
  • 92.73 (n)
cow
(Bos Taurus)
Mammalia HSPA9 35 34
  • 92.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspa9 34
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Hspa9 34 16 35
  • 90.28 (n)
chicken
(Gallus gallus)
Aves HSPA9 34 35
  • 81.25 (n)
lizard
(Anolis carolinensis)
Reptilia HSPA9 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspa9 34
  • 78.16 (n)
Str.4363 34
African clawed frog
(Xenopus laevis)
Amphibia hspa9b-prov 34
zebrafish
(Danio rerio)
Actinopterygii hspa9 34 35
  • 76.85 (n)
hspa9b 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.697 34
fruit fly
(Drosophila melanogaster)
Insecta Hsc70-5 34 35
  • 68.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010876 34
  • 67.88 (n)
worm
(Caenorhabditis elegans)
Secernentea hsp-6 34 35
  • 66.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22309g 34
  • 63.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSC1 34
  • 62.85 (n)
SSA2 35
  • 50 (a)
OneToMany
ECM10 37
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR352C 34
  • 62.24 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons mtHsc70-1 34
  • 63.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7686 34
rice
(Oryza sativa)
Liliopsida Os09g0491772 34
  • 62.13 (n)
corn
(Zea mays)
Liliopsida Zm.700 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08693 34
  • 61.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ssc1 34
  • 60.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4684 34
Species where no ortholog for HSPA9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPA9 Gene

ENSEMBL:
Gene Tree for HSPA9 (if available)
TreeFam:
Gene Tree for HSPA9 (if available)

Paralogs for HSPA9 Gene

Pseudogenes.org Pseudogenes for HSPA9 Gene

genes like me logo Genes that share paralogs with HSPA9: view

No data available for Paralogs for HSPA9 Gene

Variants for HSPA9 Gene

Sequence variations from dbSNP and Humsavar for HSPA9 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs751478142 Pathogenic, Even-plus syndrome (EVPLS) [MIM:616854] 138,570,994(+) TCGCC(A/G)GCCAA upstream-variant-2KB, reference, missense
rs765368797 Pathogenic, Even-plus syndrome (EVPLS) [MIM:616854] 138,570,987(+) CATCA(C/T)ATCGC upstream-variant-2KB, reference, missense
rs768283289 Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170] 138,567,537(+) TCCAG(A/G)TATCT reference, missense
VAR_076666 Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]
VAR_076667 Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]

Structural Variations from Database of Genomic Variants (DGV) for HSPA9 Gene

Variant ID Type Subtype PubMed ID
nsv599818 CNV loss 21841781
nsv968991 CNV duplication 23825009

Variation tolerance for HSPA9 Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSPA9 Gene

Human Gene Mutation Database (HGMD)
HSPA9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPA9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPA9 Gene

Disorders for HSPA9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HSPA9 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
even-plus syndrome
  • epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations
autosomal recessive sideroblastic anemia
  • congenital sideroblastic anemia
cowchock syndrome
  • charcot-marie-tooth disease type x
sideroblastic anemia
  • anemia sideroblastic
- elite association - COSMIC cancer census association via MalaCards
Search HSPA9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRP75_HUMAN
  • Anemia, sideroblastic, 4 (SIDBA4) [MIM:182170]: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. {ECO:0000269 PubMed:26491070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Even-plus syndrome (EVPLS) [MIM:616854]: An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. {ECO:0000269 PubMed:26598328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSPA9

Genetic Association Database (GAD)
HSPA9
Human Genome Epidemiology (HuGE) Navigator
HSPA9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPA9
genes like me logo Genes that share disorders with HSPA9: view

No data available for Genatlas for HSPA9 Gene

Publications for HSPA9 Gene

  1. Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease. (PMID: 19657588) De Mena L. … Alvarez V. (J Neural Transm 2009) 3 22 46 64
  2. Cloning of the gene encoding peptide-binding protein 74 shows that it is a new member of the heat shock protein 70 family. (PMID: 7684501) Domanico S.Z. … Pierce S.K. (Mol. Cell. Biol. 1993) 2 3 4 64
  3. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. (PMID: 26598328) Royer-Bertrand B. … Superti-Furga A. (Sci Rep 2015) 3 4 64
  4. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (PMID: 26491070) Schmitz-Abe K. … Fleming M.D. (Blood 2015) 3 4 64
  5. Structural and stability studies of the human mtHsp70-escort protein 1: An essential mortalin co-chaperone. (PMID: 23462535) Dores-Silva P.R. … Borges J.C. (Int. J. Biol. Macromol. 2013) 3 4 64

Products for HSPA9 Gene

Sources for HSPA9 Gene

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