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HSPA9 (heat shock protein family A (Hsp70) member 9)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3313
Gene nameGene Name - the full gene name approved by the HGNC.
Heat shock protein family A (Hsp70) member 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HSPA9
SynonymsGene synonyms aliases
CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, SAAN, SIDBA4
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
SummarySummary of gene provided in NCBI Entrez 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 cogn
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs772570880 CT>- Pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031608 hsa-miR-16-5p Proteomics 18668040
MIRT044460 hsa-miR-320a CLASH 23622248
MIRT042957 hsa-miR-324-3p CLASH 23622248
MIRT042742 hsa-miR-339-5p CLASH 23622248
MIRT039907 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001401 Component SAM complex HDA 26477565
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 10411904, 15520177, 15657067, 17184779, 20029029, 20153329, 20195357, 20668094, 22340593, 22726440, 23541579, 24189400, 24606901, 25416956, 26702583, 27607350, 28380382, 28514442, 30021884, 31980649
GO:0005524 Function ATP binding IBA 21873635
GO:0005730 Component Nucleolus IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P38646
Protein name Stress-70 protein, mitochondrial (EC 3.6.4.10) (75 kDa glucose-regulated protein) (GRP-75) (Heat shock 70 kDa protein 9) (Heat shock protein family A member 9) (Mortalin) (MOT) (Peptide-binding protein 74) (PBP74)
Protein function Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Plays an essential role in the protein quality control system, the correct folding of proteins, the re-folding of misfolded proteins, and the t
PDB 3N8E , 4KBO , 6NHK , 6P2U , 6PMT , 9BLS , 9BLT , 9BLU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00012 HSP70
55 653
Hsp70 protein
Family
Sequence
Sequence length 679
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  RNA degradation
Tuberculosis
  Regulation of HSF1-mediated heat shock response
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anemia ANEMIA, SIDEROBLASTIC, 4 rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 26491070
Aplasia cutis congenita Aplasia Cutis Congenita rs587777706
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Unknown
Disease name Disease term dbSNP ID References
Anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts
Brachycephaly Brachycephaly
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma rs137853247 15108329
Dwarfism Dwarfism

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