Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.2.1.3
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
aconitate hydratase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006101 | citrate metabolic process |
| Biological Process | GO:0006091 | generation of precursor metabolites and energy |
| Biological Process | GO:0006102 | isocitrate metabolic process |
| Biological Process | GO:0001889 | liver development |
| Biological Process | GO:0035900 | response to isolation stress |
| Biological Process | GO:0006099 | tricarboxylic acid cycle |
| Molecular Function | GO:0051538 | 3 iron, 4 sulfur cluster binding |
| Molecular Function | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| Molecular Function | GO:0003994 | aconitate hydratase activity |
| Molecular Function | GO:0047780 | citrate dehydratase activity |
| Molecular Function | GO:0005506 | iron ion binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| InterPro
|
InterPro name |
|---|---|
| IPR000573 | Aconitase A/isopropylmalate dehydratase small subunit, swivel domain |
| IPR001030 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain |
| IPR006248 | Aconitase, mitochondrial-like |
| IPR015928 | Aconitase/3-isopropylmalate dehydratase, swivel |
| IPR015931 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 |
| IPR015932 | Aconitase, domain 2 |
| IPR018136 | Aconitase family, 4Fe-4S cluster binding site |
| IPR036008 | Aconitase, iron-sulfur domain |
| Pfam
|
Pfam name |
|---|---|
| PF00330 | Aconitase family (aconitate hydratase) |
| PF00694 | Aconitase C-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1268020 | Mitochondrial protein import | Leaf | R-HSA-9609507 | Protein localization |
| R-HSA-71403 | Citric acid cycle (TCA cycle) | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000543 | Optic disc pallor |
| HP:0000556 | Retinal dystrophy |
| HP:0000639 | Nystagmus |
| HP:0000642 | Red-green dyschromatopsia |
| HP:0000648 | Optic atrophy |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0001508 | Failure to thrive |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002305 | Athetosis |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004325 | Decreased body weight |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007359 | Focal-onset seizure |
| HP:0007663 | Reduced visual acuity |
| HP:0010864 | Intellectual disability, severe |
| HP:0011344 | Severe global developmental delay |
| HP:0011463 | Childhood onset |
| HP:0030528 | Paracentral scotoma |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Enhanced |
| appendix | glandular cells | High | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | High | Enhanced |
| breast | glandular cells | High | Enhanced |
| breast | myoepithelial cells | High | Enhanced |
| caudate | glial cells | High | Enhanced |
| caudate | neuronal cells | High | Enhanced |
| cerebellum | Bergmann glia - cytoplasm/membrane | High | Enhanced |
| cerebellum | GLUC cells - cytoplasm/membrane | High | Enhanced |
| cerebellum | Purkinje cells - cytoplasm/membrane | High | Enhanced |
| cerebellum | granular cells - cytoplasm/membrane | High | Enhanced |
| cerebellum | molecular layer - neuropil | Low | Enhanced |
| cerebellum | molecular layer cells - cytoplasm/membrane | High | Enhanced |
| cerebellum | synaptic glomeruli - core | High | Enhanced |
| cerebellum | white matter cells - cytoplasm/membrane | High | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | High | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | High | Enhanced |
| colon | endothelial cells | Low | Enhanced |
| colon | glandular cells | High | Enhanced |
| colon | peripheral nerve/ganglion | High | Enhanced |
| duodenum | glandular cells | High | Enhanced |
| endometrium 1 | cells in endometrial stroma | High | Enhanced |
| endometrium 1 | glandular cells | High | Enhanced |
| endometrium 2 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| esophagus | squamous epithelial cells | High | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| hippocampus | glial cells | High | Enhanced |
| hippocampus | neuronal cells | High | Enhanced |
| kidney | bowman's capsule | High | Enhanced |
| kidney | cells in glomeruli | High | Enhanced |
| kidney | collecting ducts | High | Enhanced |
| kidney | distal tubules | High | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | cholangiocytes | High | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| lung | alveolar cells type I | Medium | Enhanced |
| lung | alveolar cells type II | High | Enhanced |
| lung | endothelial cells | Medium | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | Medium | Enhanced |
| lymph node | non-germinal center cells | High | Enhanced |
| nasopharynx | respiratory epithelial cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | High | Enhanced |
| ovary | follicle cells | High | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | High | Enhanced |
| placenta | cytotrophoblasts | High | Enhanced |
| placenta | decidual cells | Low | Enhanced |
| placenta | endothelial cells | Low | Enhanced |
| placenta | hofbauer cells | High | Enhanced |
| placenta | syncytiotrophoblasts - cell body | High | Enhanced |
| placenta | syncytiotrophoblasts - microvilli | Medium | Enhanced |
| prostate | glandular cells | High | Enhanced |
| rectum | glandular cells | High | Enhanced |
| salivary gland | glandular cells | High | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | cells in basal layer | High | Enhanced |
| skin 1 | cells in granular layer | High | Enhanced |
| skin 1 | cells in spinous layer | High | Enhanced |
| skin 1 | endothelial cells | High | Enhanced |
| skin 1 | langerhans cells | High | Enhanced |
| skin 1 | lymphocytes | High | Enhanced |
| skin 1 | melanocytes | High | Enhanced |
| skin 1 | vascular mural cells | High | Enhanced |
| skin 2 | cells in basal layer | High | Enhanced |
| skin 2 | cells in granular layer | High | Enhanced |
| skin 2 | cells in spinous layer | High | Enhanced |
| skin 2 | endothelial cells | High | Enhanced |
| skin 2 | fibrohistiocytic cells | Medium | Enhanced |
| skin 2 | langerhans cells | High | Enhanced |
| skin 2 | lymphocytes | High | Enhanced |
| skin 2 | melanocytes | High | Enhanced |
| skin 2 | vascular mural cells | High | Enhanced |
| small intestine | glandular cells | High | Enhanced |
| smooth muscle | smooth muscle cells | Medium | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| spleen | cells in red pulp | High | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | pachytene spermatocytes | High | Enhanced |
| testis | sertoli cells | High | Enhanced |
| testis | spermatogonia cells | High | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| tonsil | squamous epithelial cells | High | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| infantile cerebellar-retinal degeneration | MONDO:0013802 | E88 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614559 | Orphanet:313850 |
| optic atrophy 9 | MONDO:0014571 | H47 | chapter7, Diseases of the eye and adnexa | OMIM:616289 |