Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.6.1.19
Transferases;
Transferring nitrogenous groups;
Transaminases;
4-aminobutyrate—2-oxoglutarate transaminase
2.6.1.22
Transferases;
Transferring nitrogenous groups;
Transaminases;
(S)-3-amino-2-methylpropionate transaminase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007568 | aging |
| Biological Process | GO:0048148 | behavioral response to cocaine |
| Biological Process | GO:0021549 | cerebellum development |
| Biological Process | GO:0007620 | copulation |
| Biological Process | GO:0035640 | exploration behavior |
| Biological Process | GO:0009449 | gamma-aminobutyric acid biosynthetic process |
| Biological Process | GO:0009450 | gamma-aminobutyric acid catabolic process |
| Biological Process | GO:0009448 | gamma-aminobutyric acid metabolic process |
| Biological Process | GO:0007626 | locomotory behavior |
| Biological Process | GO:0045776 | negative regulation of blood pressure |
| Biological Process | GO:0033602 | negative regulation of dopamine secretion |
| Biological Process | GO:0014053 | negative regulation of gamma-aminobutyric acid secretion |
| Biological Process | GO:0090331 | negative regulation of platelet aggregation |
| Biological Process | GO:0042135 | neurotransmitter catabolic process |
| Biological Process | GO:1904450 | positive regulation of aspartate secretion |
| Biological Process | GO:0045964 | positive regulation of dopamine metabolic process |
| Biological Process | GO:0031652 | positive regulation of heat generation |
| Biological Process | GO:0097151 | positive regulation of inhibitory postsynaptic potential |
| Biological Process | GO:0032024 | positive regulation of insulin secretion |
| Biological Process | GO:1902722 | positive regulation of prolactin secretion |
| Biological Process | GO:0070474 | positive regulation of uterine smooth muscle contraction |
| Biological Process | GO:0045471 | response to ethanol |
| Biological Process | GO:0001666 | response to hypoxia |
| Biological Process | GO:0010039 | response to iron ion |
| Biological Process | GO:0035094 | response to nicotine |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Molecular Function | GO:0047298 | (S)-3-amino-2-methylpropionate transaminase activity |
| Molecular Function | GO:0034386 | 4-aminobutyrate:2-oxoglutarate transaminase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0051536 | iron-sulfur cluster binding |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0030170 | pyridoxal phosphate binding |
| Molecular Function | GO:0032145 | succinate-semialdehyde dehydrogenase binding |
| Cellular Component | GO:0032144 | 4-aminobutyrate transaminase complex |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0043005 | neuron projection |
| InterPro
|
InterPro name |
|---|---|
| IPR004631 | 4-aminobutyrate aminotransferase, eukaryotic |
| IPR005814 | Aminotransferase class-III |
| IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| IPR015424 | Pyridoxal phosphate-dependent transferase |
| Pfam
|
Pfam name |
|---|---|
| PF00202 | Aminotransferase class-III |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-916853 | Degradation of GABA | Leaf | R-HSA-112316 | Neuronal System |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000098 | Tall stature |
| HP:0000278 | Retrognathia |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001347 | Hyperreflexia |
| HP:0002415 | Leukodystrophy |
| HP:0003623 | Neonatal onset |
| HP:0003819 | Death in childhood |
| HP:0007291 | Posterior fossa cyst |
| HP:0010851 | EEG with burst suppression |
| HP:0011968 | Feeding difficulties |
| HP:0025430 | High-pitched cry |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| appendix | lymphoid tissue | Low | Enhanced |
| breast | glandular cells | Low | Enhanced |
| bronchus | basal cells | High | Enhanced |
| bronchus | ciliated cells (cell body) | High | Enhanced |
| bronchus | ciliated cells (ciliary rootlets) | Low | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | High | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | High | Enhanced |
| cerebellum | cells in molecular layer | High | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | High | Enhanced |
| colon | glandular cells | Low | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | ciliated cells (cell body) | Medium | Enhanced |
| fallopian tube | non-ciliated cells | Medium | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| hippocampus | glial cells | High | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | collecting ducts | Low | Enhanced |
| kidney | distal tubules | Medium | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | hepatocytes | High | Enhanced |
| lymph node | germinal center cells | Low | Enhanced |
| lymph node | non-germinal center cells | Low | Enhanced |
| nasopharynx | ciliated cells (cell body) | High | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| soft tissue 1 | chondrocytes | Medium | Enhanced |
| soft tissue 2 | fibroblasts | Medium | Enhanced |
| spleen | cells in white pulp | Low | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | sertoli cells | High | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | Low | Enhanced |
| tonsil | non-germinal center cells | Low | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| vagina | squamous epithelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| gaba aminotransferase deficiency | MONDO:0013166 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:613163 | Orphanet:2066 |