Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.6.1.1
Transferases;
Transferring nitrogenous groups;
Transaminases;
aspartate transaminase
2.6.1.7
Transferases;
Transferring nitrogenous groups;
Transaminases;
kynurenine—oxoglutarate transaminase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 5AX8 | 2.989 | Recombinant expression, purification and preliminary crystallographic studies of the mature form of human mitochondrial aspartate aminotransferase |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006103 | 2-oxoglutarate metabolic process |
| Biological Process | GO:0019470 | 4-hydroxyproline catabolic process |
| Biological Process | GO:0006532 | aspartate biosynthetic process |
| Biological Process | GO:0006533 | aspartate catabolic process |
| Biological Process | GO:0006531 | aspartate metabolic process |
| Biological Process | GO:0015908 | fatty acid transport |
| Biological Process | GO:0019551 | glutamate catabolic process to 2-oxoglutarate |
| Biological Process | GO:0019550 | glutamate catabolic process to aspartate |
| Biological Process | GO:0006536 | glutamate metabolic process |
| Biological Process | GO:0006107 | oxaloacetate metabolic process |
| Biological Process | GO:0045471 | response to ethanol |
| Molecular Function | GO:0004069 | L-aspartate:2-oxoglutarate aminotransferase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0016212 | kynurenine-oxoglutarate transaminase activity |
| Molecular Function | GO:0030170 | pyridoxal phosphate binding |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR000796 | Aspartate/other aminotransferase |
| IPR004838 | Aminotransferases, class-I, pyridoxal-phosphate-binding site |
| IPR004839 | Aminotransferase, class I/classII |
| IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| IPR015424 | Pyridoxal phosphate-dependent transferase |
| Pfam
|
Pfam name |
|---|---|
| PF00155 | Aminotransferase class I and II |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1614558 | Degradation of cysteine and homocysteine | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-389661 | Glyoxylate metabolism and glycine degradation | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-8963693 | Aspartate and asparagine metabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-8964539 | Glutamate and glutamine metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000269 | PubMed:9537447 |
| Mitochondrion matrix | ECO:0000269 | PubMed:9537447 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000253 | Progressive microcephaly |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001319 | Neonatal hypotonia |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001344 | Absent speech |
| HP:0001987 | Hyperammonemia |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002151 | Increased serum lactate |
| HP:0002313 | Spastic paraparesis |
| HP:0002510 | Spastic tetraplegia |
| HP:0002540 | Inability to walk |
| HP:0002719 | Recurrent infections |
| HP:0004322 | Short stature |
| HP:0004325 | Decreased body weight |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0010864 | Intellectual disability, severe |
| 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 | Medium | Enhanced |
| bronchus | basal cells | Medium | Enhanced |
| bronchus | ciliated cells (cell body) | Medium | Enhanced |
| bronchus | ciliated cells (tip of cilia) | Low | Enhanced |
| bronchus | goblet cells | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | High | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | Medium | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| colon | peripheral nerve/ganglion | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | ciliated cells (cell body) | Medium | Enhanced |
| fallopian tube | ciliated cells (tip of cilia) | Low | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| hippocampus | neuronal cells | High | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | collecting ducts | High | Enhanced |
| kidney | distal tubules | High | Enhanced |
| kidney | proximal tubules (cell body) | Medium | Enhanced |
| liver | cholangiocytes | Low | Enhanced |
| liver | hepatocytes | High | Enhanced |
| lung | macrophages | Low | Enhanced |
| lymph node | germinal center cells | High | Enhanced |
| lymph node | non-germinal center cells | Medium | Enhanced |
| nasopharynx | basal cells | Medium | Enhanced |
| nasopharynx | ciliated cells (cell body) | Medium | Enhanced |
| nasopharynx | ciliated cells (tip of cilia) | Low | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| ovary | follicle cells | High | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | decidual cells | Low | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 1 | Langerhans | Low | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | epidermal cells | Medium | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| soft tissue 1 | peripheral nerve | Low | Enhanced |
| soft tissue 2 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| spleen | cells in white pulp | Medium | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | sertoli cells | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | High | Enhanced |
| tonsil | non-germinal center cells | Low | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| developmental and epileptic encephalopathy, 82 | MONDO:0032880 | G40 | chapter6, Diseases of the nervous system | OMIM:618721 |