Human Gene HSPA9 (ENST00000297185.9_8) from GENCODE V47lift37
  Description: heat shock protein family A (Hsp70) member 9 (from RefSeq NM_004134.7)
Gencode Transcript: ENST00000297185.9_8
Gencode Gene: ENSG00000113013.16_18
Transcript (Including UTRs)
   Position: hg19 chr5:137,889,445-137,911,090 Size: 21,646 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr5:137,891,726-137,911,007 Size: 19,282 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:137,889,445-137,911,090)mRNA (may differ from genome)Protein (679 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRP75_HUMAN
DESCRIPTION: RecName: Full=Stress-70 protein, mitochondrial; AltName: Full=75 kDa glucose-regulated protein; Short=GRP-75; AltName: Full=Heat shock 70 kDa protein 9; AltName: Full=Mortalin; Short=MOT; AltName: Full=Peptide-binding protein 74; Short=PBP74; Flags: Precursor;
FUNCTION: Implicated in the control of cell proliferation and cellular aging. May also act as a chaperone.
SUBUNIT: Interacts with FXN. Interacts with HSCB. Component of the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2.
INTERACTION: Q8WX92:COBRA1; NbExp=2; IntAct=EBI-354932, EBI-347721; P04637:TP53; NbExp=2; IntAct=EBI-354932, EBI-366083; O15350:TP73; NbExp=11; IntAct=EBI-354932, EBI-389606;
SUBCELLULAR LOCATION: Mitochondrion. Nucleus, nucleolus.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the heat shock protein 70 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hspa9b/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HSPA9
Diseases sorted by gene-association score: even-plus syndrome* (1239), anemia, sideroblastic, 4* (929), autosomal recessive sideroblastic anemia* (247), sideroblastic anemia (9), parainfluenza virus type 3 (9), cowchock syndrome (9), macrocytic anemia, refractory, due to 5q deletion, somatic (8), autosomal recessive disease (2), parkinson disease, late-onset (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 150.79 RPKM in Adrenal Gland
Total median expression: 2976.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0083-0.229 Picture PostScript Text
3' UTR -574.602281-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012725 - Chaperone_DnaK
IPR018181 - Heat_shock_70_CS
IPR013126 - Hsp_70_fam

Pfam Domains:
PF00012 - Hsp70 protein
PF02782 - FGGY family of carbohydrate kinases, C-terminal domain
PF06723 - MreB/Mbl protein

SCOP Domains:
100934 - Heat shock protein 70kD (HSP70), C-terminal subdomain
100920 - Heat shock protein 70kD (HSP70), peptide-binding domain
53067 - Actin-like ATPase domain
54791 - Eukaryotic type KH-domain (KH-domain type I)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3N8E - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P38646
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0051082 unfolded protein binding

Biological Process:
GO:0006457 protein folding
GO:0006611 protein export from nucleus
GO:0016226 iron-sulfur cluster assembly
GO:0030218 erythrocyte differentiation
GO:0035722 interleukin-12-mediated signaling pathway
GO:0043066 negative regulation of apoptotic process
GO:0045646 regulation of erythrocyte differentiation
GO:0045647 negative regulation of erythrocyte differentiation
GO:1902037 negative regulation of hematopoietic stem cell differentiation
GO:1903707 negative regulation of hemopoiesis

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005925 focal adhesion
GO:0042645 mitochondrial nucleoid
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK225488 - Homo sapiens mRNA for heat shock 70kDa protein 9B precursor variant, clone: JTH02057.
BC030634 - Homo sapiens heat shock 70kDa protein 9 (mortalin), mRNA (cDNA clone IMAGE:3941210), partial cds.
BC000478 - Homo sapiens heat shock 70kDa protein 9 (mortalin), mRNA (cDNA clone MGC:8684 IMAGE:2964588), complete cds.
BC024034 - Homo sapiens heat shock 70kDa protein 9 (mortalin), mRNA (cDNA clone MGC:4500 IMAGE:2964588), complete cds.
LP895536 - Sequence 400 from Patent EP3253886.
L11066 - Human mRNA sequence.
JD298195 - Sequence 279219 from Patent EP1572962.
JD026492 - Sequence 7516 from Patent EP1572962.
JD029565 - Sequence 10589 from Patent EP1572962.
JD519221 - Sequence 500245 from Patent EP1572962.
JD091113 - Sequence 72137 from Patent EP1572962.
JD551876 - Sequence 532900 from Patent EP1572962.
JD151709 - Sequence 132733 from Patent EP1572962.
JD036782 - Sequence 17806 from Patent EP1572962.
JD450781 - Sequence 431805 from Patent EP1572962.
AK297795 - Homo sapiens cDNA FLJ51903 complete cds, highly similar to Stress-70 protein, mitochondrial precursor.
AK222758 - Homo sapiens mRNA for heat shock 70kDa protein 9B precursor variant, clone: HEP01066.
JD279888 - Sequence 260912 from Patent EP1572962.
AK297897 - Homo sapiens cDNA FLJ51907 complete cds, highly similar to Stress-70 protein, mitochondrial precursor.
FJ224291 - Homo sapiens epididymis secretory sperm binding protein Li 124m (HEL-S-124m) mRNA, complete cds.
L15189 - Homo sapiens mitochondrial HSP75 mRNA, complete cds.
JD049316 - Sequence 30340 from Patent EP1572962.
JD508023 - Sequence 489047 from Patent EP1572962.
DQ480334 - Homo sapiens catecholamine-regulated protein 40 mRNA, complete cds, alternatively spliced.
GQ891353 - Homo sapiens clone HEL-S-1269g epididymis secretory sperm binding protein mRNA, complete cds.
AK315177 - Homo sapiens cDNA, FLJ96154, highly similar to Homo sapiens heat shock 70kDa protein 9B (mortalin-2) (HSPA9B),nuclear gene encoding mitochondrial protein, mRNA.
JF432370 - Synthetic construct Homo sapiens clone IMAGE:100073567 heat shock 70kDa protein 9 (mortalin) (HSPA9) gene, encodes complete protein.
KJ897017 - Synthetic construct Homo sapiens clone ccsbBroadEn_06411 HSPA9 gene, encodes complete protein.
EU446981 - Synthetic construct Homo sapiens clone IMAGE:100070210; IMAGE:100012190; FLH258747.01L heat shock 70kDa protein 9 (mortalin) (HSPA9) gene, encodes complete protein.
AB463063 - Synthetic construct DNA, clone: pF1KB3200, Homo sapiens HSPA9 gene for heat shock 70kDa protein 9, without stop codon, in Flexi system.
AK293990 - Homo sapiens cDNA FLJ51811 complete cds, highly similar to Stress-70 protein, mitochondrial precursor.
AK023317 - Homo sapiens cDNA FLJ13255 fis, clone OVARC1000800, moderately similar to MITOCHONDRIAL STRESS-70 PROTEIN PRECURSOR.
CU674234 - Synthetic construct Homo sapiens gateway clone IMAGE:100020731 5' read HSPA9 mRNA.
DQ185038 - Homo sapiens heat shock 70 kDa protein 9B mRNA, partial cds.
JD338420 - Sequence 319444 from Patent EP1572962.
JD271259 - Sequence 252283 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P38646 (Reactome details) participates in the following event(s):

R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
R-HSA-1299480 Precursor proteins enter TIMM23 PAM
R-HSA-1299487 Precursor proteins enter TIMM23 SORT
R-HSA-1299475 TIMM23 PAM translocates proteins from the mitochndrial intermebrane space to the mitochondrial matrix
R-HSA-1299482 TIMM23 SORT inserts proteins into inner membrane
R-HSA-5251942 Hikeshi binds HSP70s:ATP
R-HSA-5251959 HSP40s activate intrinsic ATPase activity of HSP70s in the cytosol
R-HSA-5252079 HSP110s exchange ATP for ADP on HSP70s:ADP
R-HSA-5251955 HSP40s activate intrinsic ATPase activity of HSP70s in the nucleoplasm
R-HSA-1299478 MPP cleaves targeting peptide (presequence) of matrix precursors
R-HSA-1299476 MPP cleaves targeting peptide (presequence) of inner membrane precursors
R-HSA-5252041 NPC transports Hikeshi:HSP70s:ATP from cytosol to nucleoplasm
R-HSA-8949613 Cristae formation
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-1268020 Mitochondrial protein import
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-9020591 Interleukin-12 signaling
R-HSA-392499 Metabolism of proteins
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-447115 Interleukin-12 family signaling
R-HSA-3371556 Cellular response to heat stress
R-HSA-449147 Signaling by Interleukins
R-HSA-2262752 Cellular responses to stress
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCM1, ENST00000297185.1, ENST00000297185.2, ENST00000297185.3, ENST00000297185.4, ENST00000297185.5, ENST00000297185.6, ENST00000297185.7, ENST00000297185.8, GRP75, GRP75_HUMAN, HSPA9 , HSPA9B, mt-HSP70, NM_004134, P30036, P31932, P38646, Q1HB43, Q53H23, Q6GU03, Q9BWB7, Q9UC56, uc317lyt.1, uc317lyt.2
UCSC ID: ENST00000297185.9_8
RefSeq Accession: NM_004134.7
Protein: P38646 (aka GRP75_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.