Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.-
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0019752 | carboxylic acid metabolic process |
| Biological Process | GO:0006629 | lipid metabolic process |
| Biological Process | GO:0009249 | protein lipoylation |
| Biological Process | GO:0036211 | protein modification process |
| Molecular Function | GO:0016746 | acyltransferase activity |
| Molecular Function | GO:0017118 | lipoyltransferase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-389661 | Glyoxylate metabolism and glycine degradation | Internal node | 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:0001272 | Cerebellar atrophy |
| HP:0001285 | Spastic tetraparesis |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001410 | Decreased liver function |
| 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:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002104 | Apnea |
| HP:0002119 | Ventriculomegaly |
| HP:0002151 | Increased serum lactate |
| HP:0002188 | Delayed CNS myelination |
| HP:0002376 | Developmental regression |
| HP:0002415 | Leukodystrophy |
| HP:0002490 | Increased CSF lactate |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
| HP:0003128 | Lactic acidosis |
| HP:0003217 | Hyperglutaminemia |
| HP:0003573 | Increased total bilirubin |
| HP:0003593 | Infantile onset |
| HP:0003648 | Lacticaciduria |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0008358 | Hyperprolinemia |
| HP:0008936 | Axial hypotonia |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain |
| HP:0009830 | Peripheral neuropathy |
| HP:0010864 | Intellectual disability, severe |
| HP:0020078 | Alaninuria |
| HP:0025376 | Hyperglutaminuria |
| HP:0100022 | Abnormality of movement |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Low | Approved |
| breast | glandular cells | Low | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | ciliated cells (ciliary rootlets) | Medium | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Low | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Low | Approved |
| epididymis | glandular cells | Low | Approved |
| fallopian tube | ciliated cells (ciliary rootlets) | High | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| kidney | cells in tubules | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| rectum | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | fibroblasts | Low | Approved |
| skin 2 | epidermal cells | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Low | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | spermatogonia cells | Medium | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| lipoyl transferase 1 deficiency | MONDO:0014576 | E88 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:616299 | Orphanet:401862 |
| leigh syndrome with leukodystrophy | MONDO:0016815 | G31 | chapter6, Diseases of the nervous system | Orphanet:255241 |