Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 3N8E | 2.8 | Substrate binding domain of the human Heat Shock 70kDa protein 9 (mortalin) |
| 4KBO | 2.8 | Crystal structure of the human Mortalin (GRP75) ATPase domain in the apo form |
| 6NHK | 2.777 | Mortalin nucleotide binding domain in the ADP-bound state |
| 6P2U | 2.0 | Structure of Mortalin-NBD with N6-propargyladenosine-5'-diphosphate |
| 6PMT | 2.3 | Structure of Mortalin-NBD with adenosine-5'-monophosphate and thiodiphosphate |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0051085 | chaperone cofactor-dependent protein refolding |
| Biological Process | GO:0030218 | erythrocyte differentiation |
| Biological Process | GO:0007007 | inner mitochondrial membrane organization |
| Biological Process | GO:0006886 | intracellular protein transport |
| Biological Process | GO:0016226 | iron-sulfur cluster assembly |
| Biological Process | GO:0043066 | negative regulation of apoptotic process |
| Biological Process | GO:0045647 | negative regulation of erythrocyte differentiation |
| Biological Process | GO:1902037 | negative regulation of hematopoietic stem cell differentiation |
| Biological Process | GO:1903707 | negative regulation of hemopoiesis |
| Biological Process | GO:0006611 | protein export from nucleus |
| Biological Process | GO:0042026 | protein refolding |
| Biological Process | GO:0045646 | regulation of erythrocyte differentiation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0140662 | ATP-dependent protein folding chaperone |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0031072 | heat shock protein binding |
| Molecular Function | GO:0044183 | protein folding chaperone |
| Molecular Function | GO:0031625 | ubiquitin protein ligase binding |
| Molecular Function | GO:0051082 | unfolded protein binding |
| Cellular Component | GO:0140275 | MIB complex |
| Cellular Component | GO:0001401 | SAM complex |
| Cellular Component | GO:0005744 | TIM23 mitochondrial import inner membrane translocase complex |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005925 | focal adhesion |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0042645 | mitochondrial nucleoid |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005730 | nucleolus |
| InterPro
|
InterPro name |
|---|---|
| IPR012725 | Chaperone DnaK |
| IPR013126 | Heat shock protein 70 family |
| IPR018181 | Heat shock protein 70, conserved site |
| IPR029047 | Heat shock protein 70kD, peptide-binding domain superfamily |
| IPR029048 | Heat shock protein 70kD, C-terminal domain superfamily |
| IPR043129 | ATPase, nucleotide binding domain |
| Pfam
|
Pfam name |
|---|---|
| PF00012 | Hsp70 protein |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1268020 | Mitochondrial protein import | Leaf | R-HSA-9609507 | Protein localization |
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response | Leaf | R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-8949613 | Cristae formation | Leaf | R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation | Leaf | R-HSA-168256 | Immune System |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000269 | PubMed:22002106 |
| Mitochondrion | ECO:0000269 | PubMed:26702583 |
| Nucleus, nucleolus | ECO:0000269 | PubMed:22002106 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000089 | Renal hypoplasia |
| HP:0000218 | High palate |
| HP:0000248 | Brachycephaly |
| HP:0000456 | Bifid nasal tip |
| HP:0000457 | Depressed nasal ridge |
| HP:0000470 | Short neck |
| HP:0000518 | Cataract |
| HP:0000664 | Synophrys |
| HP:0000668 | Hypodontia |
| HP:0001047 | Atopic dermatitis |
| HP:0001057 | Aplasia cutis congenita |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001562 | Oligohydramnios |
| HP:0001631 | Atrial septal defect |
| HP:0001655 | Patent foramen ovale |
| HP:0001877 | Abnormal erythrocyte morphology |
| HP:0001924 | Sideroblastic anemia |
| HP:0002023 | Anal atresia |
| HP:0002553 | Highly arched eyebrow |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0003196 | Short nose |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0003510 | Severe short stature |
| HP:0004828 | Refractory anemia with ringed sideroblasts |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0008070 | Sparse hair |
| HP:0008428 | Vertebral clefting |
| HP:0008551 | Microtia |
| HP:0010575 | Dysplasia of the femoral head |
| HP:0011800 | Midface retrusion |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Supported |
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | High | Supported |
| bone marrow | hematopoietic cells | High | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | High | Supported |
| bronchus | respiratory epithelial cells | High | Supported |
| caudate | glial cells | High | Supported |
| caudate | neuronal cells | High | Supported |
| cerebellum | Purkinje cells | High | Supported |
| cerebellum | cells in granular layer | High | Supported |
| cerebellum | cells in molecular layer | Medium | Supported |
| cerebral cortex | endothelial cells | Medium | Supported |
| cerebral cortex | glial cells | Medium | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | High | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | cells in endometrial stroma | High | Supported |
| endometrium 1 | glandular cells | High | Supported |
| endometrium 2 | cells in endometrial stroma | High | Supported |
| endometrium 2 | glandular cells | High | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | High | Supported |
| hippocampus | glial cells | Medium | Supported |
| hippocampus | neuronal cells | High | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | High | Supported |
| liver | hepatocytes | High | Supported |
| lung | alveolar cells type II | Medium | Supported |
| lung | macrophages | High | Supported |
| lymph node | germinal center cells | High | Supported |
| lymph node | non-germinal center cells | High | Supported |
| nasopharynx | respiratory epithelial cells | High | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | follicle cells | High | Supported |
| ovary | ovarian stroma cells | High | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | High | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | High | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | High | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | High | Supported |
| seminal vesicle | glandular cells | High | Supported |
| skin 1 | Langerhans | High | Supported |
| skin 1 | fibroblasts | High | Supported |
| skin 1 | keratinocytes | High | Supported |
| skin 1 | melanocytes | High | Supported |
| skin 2 | epidermal cells | High | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | chondrocytes | Medium | Supported |
| soft tissue 1 | fibroblasts | Medium | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| soft tissue 2 | peripheral nerve | High | Supported |
| spleen | cells in red pulp | High | Supported |
| spleen | cells in white pulp | High | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | High | Supported |
| testis | pachytene spermatocytes | Medium | Supported |
| testis | sertoli cells | High | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | High | Supported |
| tonsil | germinal center cells | High | Supported |
| tonsil | non-germinal center cells | High | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | High | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autosomal dominant sideroblastic anemia | MONDO:0008422 | D64 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:182170 | |
| even-plus syndrome | MONDO:0014801 | Q77 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:616854 | Orphanet:496751 |
| autosomal recessive sideroblastic anemia | MONDO:0016828 | D64 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | Orphanet:260305 |