Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.181
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
lipoyl(octanoyl) transferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0019752 | carboxylic acid metabolic process |
| Biological Process | GO:2000376 | positive regulation of oxygen metabolic process |
| Biological Process | GO:0009249 | protein lipoylation |
| Molecular Function | GO:0016874 | ligase activity |
| Molecular Function | GO:0033819 | lipoyl(octanoyl) transferase activity |
| 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 |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000269 | PubMed:28628643 |
| Mitochondrion | ECO:0000269 | PubMed:28757203 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001285 | Spastic tetraparesis |
| HP:0001298 | Encephalopathy |
| HP:0001332 | Dystonia |
| HP:0001344 | Absent speech |
| HP:0001522 | Death in infancy |
| HP:0002093 | Respiratory insufficiency |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002151 | Increased serum lactate |
| HP:0002188 | Delayed CNS myelination |
| HP:0002353 | EEG abnormality |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003128 | Lactic acidosis |
| HP:0003348 | Hyperalaninemia |
| HP:0003542 | Increased serum pyruvate |
| HP:0003623 | Neonatal onset |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007109 | Periventricular cysts |
| HP:0008936 | Axial hypotonia |
| HP:0009879 | Simplified gyral pattern |
| HP:0011968 | Feeding difficulties |
| HP:0012736 | Profound global developmental delay |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | High | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cervix | glandular cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | High | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | High | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | High | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | High | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | fibroblasts | High | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Low | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | chondrocytes | Medium | Approved |
| soft tissue 1 | fibroblasts | High | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | High | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| encephalopathy- neonatal severe- with lactic acidosis and brain abnormalities | MONDO:0060562 | G31 | chapter6, Diseases of the nervous system | OMIM:617668 |