Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.2.1.18
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
methylglutaconyl-CoA hydratase
4.2.1.56
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
itaconyl-CoA hydratase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006635 | fatty acid beta-oxidation |
| Biological Process | GO:0006552 | leucine catabolic process |
| Molecular Function | GO:0004300 | enoyl-CoA hydratase activity |
| Molecular Function | GO:0050011 | itaconyl-CoA hydratase activity |
| Molecular Function | GO:0003730 | mRNA 3'-UTR binding |
| Molecular Function | GO:0004490 | methylglutaconyl-CoA hydratase activity |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70895 | Branched-chain amino acid catabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000252 | Microcephaly |
| HP:0000648 | Optic atrophy |
| HP:0000726 | Dementia |
| HP:0000736 | Short attention span |
| HP:0000742 | Self-mutilation |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001259 | Coma |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001285 | Spastic tetraparesis |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001508 | Failure to thrive |
| HP:0001942 | Metabolic acidosis |
| HP:0001943 | Hypoglycemia |
| HP:0002059 | Cerebral atrophy |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002134 | Abnormal basal ganglia morphology |
| HP:0002240 | Hepatomegaly |
| HP:0002305 | Athetosis |
| HP:0002352 | Leukoencephalopathy |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002510 | Spastic tetraplegia |
| HP:0003535 | 3-Methylglutaconic aciduria |
| HP:0003581 | Adult onset |
| HP:0003593 | Infantile onset |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| breast | glandular cells | Low | Enhanced |
| breast | myoepithelial cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | glial cells | Medium | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| cerebellum | cells in granular layer | Medium | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cerebral cortex | neuropil | High | Enhanced |
| cervix | glandular cells | Medium | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | High | Enhanced |
| fallopian tube | glandular cells | Medium | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | Medium | Enhanced |
| hippocampus | glial cells | Medium | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | cells in tubules | High | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | alveolar cells type I | Low | Enhanced |
| lung | alveolar cells type II | Low | Enhanced |
| lymph node | germinal center cells | Low | Enhanced |
| lymph node | non-germinal center cells | Low | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | High | Enhanced |
| ovary | ovarian stroma cells | Low | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | High | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | fibroblasts | Low | Enhanced |
| skin 2 | epidermal cells | Low | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| smooth muscle | smooth muscle cells | Low | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 2 | fibroblasts | Low | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | cells in seminiferous ducts | Low | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | Low | Enhanced |
| tonsil | squamous epithelial cells | High | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| 3-methylglutaconic aciduria type 1 | MONDO:0009610 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:250950 | Orphanet:67046 |