Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.2.1.17
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
enoyl-CoA hydratase
5.3.3.8
Isomerases;
Intramolecular oxidoreductases;
Transposing C=C bonds;
Δ3-Δ2-enoyl-CoA isomerase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2HW5 | 2.55 | The crystal structure of human enoyl-coenzyme A (CoA) hydratase short chain 1, ECHS1 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0009083 | branched-chain amino acid catabolic process |
| Biological Process | GO:0006635 | fatty acid beta-oxidation |
| Molecular Function | GO:0043956 | 3-hydroxypropionyl-CoA dehydratase activity |
| Molecular Function | GO:0120092 | crotonyl-CoA hydratase activity |
| Molecular Function | GO:0004165 | delta(3)-delta(2)-enoyl-CoA isomerase activity |
| Molecular Function | GO:0004300 | enoyl-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 |
| R-HSA-77310 | Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-77346 | Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-77348 | Beta oxidation of octanoyl-CoA to hexanoyl-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-77350 | Beta oxidation of hexanoyl-CoA to butanoyl-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-77352 | Beta oxidation of butanoyl-CoA to acetyl-CoA | Leaf | R-HSA-1430728 | Metabolism |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000602 | Ophthalmoplegia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000712 | Emotional lability |
| HP:0000998 | Hypertrichosis |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001629 | Ventricular septal defect |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001662 | Bradycardia |
| HP:0001903 | Anemia |
| HP:0001941 | Acidosis |
| HP:0002033 | Poor suck |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002104 | Apnea |
| HP:0002151 | Increased serum lactate |
| HP:0002415 | Leukodystrophy |
| HP:0002490 | Increased CSF lactate |
| HP:0002878 | Respiratory failure |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
| HP:0003577 | Congenital onset |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain |
| HP:0009830 | Peripheral neuropathy |
| HP:0010544 | Vertical nystagmus |
| HP:0010864 | Intellectual disability, severe |
| HP:0011344 | Severe global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0012444 | Brain atrophy |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0033725 | Thin corpus callosum |
| HP:0100022 | Abnormality of movement |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | High | Enhanced |
| adrenal gland | glandular cells | High | Enhanced |
| appendix | glandular cells | High | Enhanced |
| appendix | lymphoid tissue | High | Enhanced |
| bone marrow | hematopoietic cells | High | Enhanced |
| breast | adipocytes | Medium | Enhanced |
| breast | glandular cells | High | Enhanced |
| breast | myoepithelial cells | High | Enhanced |
| bronchus | respiratory epithelial cells | High | Enhanced |
| caudate | glial cells | Medium | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | High | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | glial cells | High | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | Medium | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | High | Enhanced |
| colon | peripheral nerve/ganglion | High | Enhanced |
| duodenum | glandular cells | High | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | 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 | Medium | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | bowman's capsule | High | Enhanced |
| kidney | collecting ducts | High | Enhanced |
| kidney | distal tubules | High | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | High | Enhanced |
| lung | alveolar cells type I | Medium | Enhanced |
| lung | alveolar cells type II | High | Enhanced |
| lung | endothelial cells | High | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | Medium | Enhanced |
| lymph node | non-germinal center cells | Medium | Enhanced |
| nasopharynx | respiratory epithelial cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | cytotrophoblasts | High | Enhanced |
| placenta | endothelial cells | Medium | Enhanced |
| placenta | hofbauer cells | High | Enhanced |
| placenta | syncytiotrophoblasts - cell body | High | Enhanced |
| placenta | syncytiotrophoblasts - microvilli | High | 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 | fibrohistiocytic cells | High | Enhanced |
| skin 1 | hair follicles | High | Enhanced |
| skin 1 | langerhans cells | High | Enhanced |
| skin 1 | lymphocytes | High | Enhanced |
| skin 1 | melanocytes | 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 | Medium | Enhanced |
| skin 2 | fibrohistiocytic cells | High | Enhanced |
| skin 2 | langerhans cells | High | Enhanced |
| skin 2 | lymphocytes | High | Enhanced |
| skin 2 | melanocytes | High | Enhanced |
| small intestine | glandular cells | High | Enhanced |
| smooth muscle | smooth muscle cells | Medium | Enhanced |
| soft tissue 1 | fibroblasts | Medium | Enhanced |
| soft tissue 1 | peripheral nerve | Medium | Enhanced |
| soft tissue 2 | chondrocytes | Low | Enhanced |
| soft tissue 2 | fibroblasts | Medium | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| spleen | cells in red pulp | Medium | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | High | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | sertoli cells | High | Enhanced |
| testis | spermatogonia cells | High | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | germinal center cells | High | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mitochondrial short-chain enoyl-coa hydratase 1 deficiency | MONDO:0014563 | G31 | chapter6, Diseases of the nervous system | OMIM:616277 |