HSPA9 (heat shock protein family A (Hsp70) member 9)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3313 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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HSPA9 |
SynonymsGene synonyms aliases
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CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, SAAN, SIDBA4 |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q31.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs772570880 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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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 |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005739 |
Component |
Mitochondrion |
IBA |
21873635 |
GO:0005739 |
Component |
Mitochondrion |
IDA |
26702583 |
GO:0005739 |
Component |
Mitochondrion |
TAS |
16130169 |
GO:0005759 |
Component |
Mitochondrial matrix |
TAS |
|
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0006611 |
Process |
Protein export from nucleus |
IEA |
|
GO:0007007 |
Process |
Inner mitochondrial membrane organization |
IC |
26477565 |
GO:0016226 |
Process |
Iron-sulfur cluster assembly |
IMP |
26702583 |
GO:0016887 |
Function |
ATPase activity |
IBA |
21873635 |
GO:0030218 |
Process |
Erythrocyte differentiation |
IMP |
21123823 |
GO:0031072 |
Function |
Heat shock protein binding |
IBA |
21873635 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
19725078, 21753002 |
GO:0034620 |
Process |
Cellular response to unfolded protein |
IBA |
21873635 |
GO:0035722 |
Process |
Interleukin-12-mediated signaling pathway |
TAS |
|
GO:0042026 |
Process |
Protein refolding |
IBA |
21873635 |
GO:0042645 |
Component |
Mitochondrial nucleoid |
IDA |
18063578 |
GO:0043066 |
Process |
Negative regulation of apoptotic process |
TAS |
16130169 |
GO:0044183 |
Function |
Protein folding chaperone |
IBA |
21873635 |
GO:0045646 |
Process |
Regulation of erythrocyte differentiation |
IMP |
26702583 |
GO:0045647 |
Process |
Negative regulation of erythrocyte differentiation |
IMP |
21123823 |
GO:0051082 |
Function |
Unfolded protein binding |
IBA |
21873635 |
GO:0051082 |
Function |
Unfolded protein binding |
TAS |
16130169 |
GO:0051085 |
Process |
Chaperone cofactor-dependent protein refolding |
IBA |
21873635 |
GO:0051787 |
Function |
Misfolded protein binding |
IBA |
21873635 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
20458337 |
GO:0140275 |
Component |
MIB complex |
HDA |
26477565 |
GO:1902037 |
Process |
Negative regulation of hematopoietic stem cell differentiation |
IEA |
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GO:1903707 |
Process |
Negative regulation of hemopoiesis |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00012 |
HSP70 |
55 → 653 |
Hsp70 protein |
Family |
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Sequence |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Agenesis of corpus callosum |
Agenesis of corpus callosum |
rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933 |
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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 |
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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 |
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Autoimmune diseases |
Autoimmune Diseases |
rs41285370, rs869025224 |
21850155 |
Dermatitis |
Dermatitis, Atopic |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
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Epiphyseal dysplasia |
Epiphyseal dysplasia |
rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817 |
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Even-plus syndrome |
EVEN-PLUS SYNDROME |
rs751478142, rs765368797 |
10424819, 26598328 |
Papillary renal carcinoma |
Papillary Renal Cell Carcinoma |
rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 |
15108329 |
Parkinson disease |
Parkinson Disease |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
16565515 |
Renal carcinoma |
Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney |
rs121913668, rs121913670, rs121913243, rs786202724 |
15108329 |
Schizophrenia |
Schizophrenia, Chronic schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
23182727 |
Sideroblastic anemia |
Sideroblastic anemia, Autosomal recessive sideroblastic anemia |
rs763817505 |
26491070 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia with ringed sideroblasts |
Refractory anemia with ringed sideroblasts |
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Brachycephaly |
Brachycephaly |
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Chromophobe carcinoma |
Chromophobe Renal Cell Carcinoma |
rs137853247 |
15108329 |
Dwarfism |
Dwarfism |
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High palate |
Byzanthine arch palate |
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Hypodontia |
Hypodontia |
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Imperforate anus |
Anus, Imperforate |
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Liver carcinoma |
Liver carcinoma |
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21472284 |
Microtia |
Congenital small ears |
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Myocardial ischemia |
Myocardial Ischemia |
|
16214533 |
Necrotizing enterocolitis |
Necrotizing Enterocolitis |
|
18806098 |
Patent foramen ovale |
Foramen Ovale, Patent |
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Renal hypoplasia |
Congenital hypoplasia of kidney |
rs561111097 |
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Synophrys |
Synophrys |
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Uveitis |
Uveitis |
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21850155 |
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