ABAT
Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| 4-aminobutyrate aminotransferase | MIM:137150 | Ensembl:ENSG00000183044 | HGNC:HGNC:23 | PA24372 | 16p13.2 |
GO terms in ABAT
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0007620 | copulation |
| BP | IEA | GO:0007626 | locomotory behavior |
| BP | IEA | GO:0009449 | gamma-aminobutyric acid biosynthetic process |
| BP | IBA | GO:0009450 | gamma-aminobutyric acid catabolic process |
| BP | NAS | GO:0009450 | gamma-aminobutyric acid catabolic process |
| BP | IEA | GO:0010039 | response to iron ion |
| BP | IEA | GO:0014053 | negative regulation of gamma-aminobutyric acid secretion |
| BP | IEA | GO:0021549 | cerebellum development |
| BP | IEA | GO:0031652 | positive regulation of heat generation |
| BP | IEA | GO:0032024 | positive regulation of insulin secretion |
| BP | IEA | GO:0033602 | negative regulation of dopamine secretion |
| BP | IEA | GO:0035094 | response to nicotine |
| BP | IEA | GO:0035640 | exploration behavior |
| BP | NAS | GO:0042135 | neurotransmitter catabolic process |
| BP | IEA | GO:0045471 | response to ethanol |
| BP | IEA | GO:0045776 | negative regulation of blood pressure |
| BP | IEA | GO:0045964 | positive regulation of dopamine metabolic process |
| BP | ISS | GO:0048148 | behavioral response to cocaine |
| BP | IEA | GO:0070474 | positive regulation of uterine smooth muscle contraction |
| BP | IEA | GO:0090331 | negative regulation of platelet aggregation |
| BP | IEA | GO:0097151 | positive regulation of inhibitory postsynaptic potential |
| BP | IEA | GO:1902722 | positive regulation of prolactin secretion |
| BP | IEA | GO:1904450 | positive regulation of aspartate secretion |
| CC | IBA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
| CC | IDA | GO:0032144 | 4-aminobutyrate transaminase complex |
| CC | IEA | GO:0043005 | neuron projection |
| MF | IBA | GO:0003867 | 4-aminobutyrate transaminase activity |
| MF | IDA | GO:0003867 | 4-aminobutyrate transaminase activity |
| MF | TAS | GO:0003867 | 4-aminobutyrate transaminase activity |
| MF | IBA | GO:0030170 | pyridoxal phosphate binding |
| MF | IDA | GO:0030170 | pyridoxal phosphate binding |
| MF | ISS | GO:0032145 | succinate-semialdehyde dehydrogenase binding |
| MF | IEA | GO:0034386 | 4-aminobutyrate:2-oxoglutarate transaminase activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IEA | GO:0047298 | (S)-3-amino-2-methylpropionate transaminase activity |
| MF | IEA | GO:0051536 | iron-sulfur cluster binding |
Gene expression in normal tissue: ABAT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABAT
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00007 | Beta-Alanine Metabolism |
| smpdb | SMP00016 | Propanoate Metabolism |
| smpdb | SMP00032 | Valine, Leucine and Isoleucine Degradation |
| smpdb | SMP00067 | Aspartate Metabolism |
| smpdb | SMP00072 | Glutamate Metabolism |
| smpdb | SMP00136 | 2-Hydroxyglutric Aciduria (D And L Form) |
| smpdb | SMP00137 | 2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency |
| smpdb | SMP00138 | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
| smpdb | SMP00139 | 3-Methylglutaconic Aciduria Type I |
| smpdb | SMP00140 | 3-Methylglutaconic Aciduria Type III |
| smpdb | SMP00141 | 3-Methylglutaconic Aciduria Type IV |
| smpdb | SMP00173 | Beta-Ketothiolase Deficiency |
| smpdb | SMP00175 | Canavan Disease |
| smpdb | SMP00192 | Hypoacetylaspartia |
| smpdb | SMP00198 | Malonic Aciduria |
| smpdb | SMP00199 | Maple Syrup Urine Disease |
| smpdb | SMP00200 | Methylmalonic Aciduria |
| smpdb | SMP00201 | Methylmalonic Aciduria Due to Cobalamin-Related Disorders |
| smpdb | SMP00236 | Propionic Acidemia |
| smpdb | SMP00237 | 3-Methylcrotonyl Coa Carboxylase Deficiency Type I |
| smpdb | SMP00238 | Isovaleric Aciduria |
| smpdb | SMP00243 | 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency |
| smpdb | SMP00339 | Hyperinsulinism-Hyperammonemia Syndrome |
| smpdb | SMP00351 | GABA-Transaminase Deficiency |
| smpdb | SMP00384 | Methylmalonate Semialdehyde Dehydrogenase Deficiency |
| smpdb | SMP00385 | Homocarnosinosis |
| smpdb | SMP00492 | Ureidopropionase deficiency |
| smpdb | SMP00493 | Carnosinuria, carnosinemia |
| smpdb | SMP00502 | Malonyl-coa decarboxylase deficiency |
| smpdb | SMP00521 | 3-hydroxyisobutyric acid dehydrogenase deficiency |
| smpdb | SMP00522 | 3-hydroxyisobutyric aciduria |
| smpdb | SMP00523 | Isobutyryl-coa dehydrogenase deficiency |
| smpdb | SMP00524 | Isovaleric acidemia |
| smpdb | SMP00567 | Succinic semialdehyde dehydrogenase deficiency |
| wikipathways | WP106 | Alanine and aspartate metabolism |
| wikipathways | WP3871 | Valproic acid pathway |
| pharmgkb | PA165959313 | Valproic Acid Pathway, Pharmacodynamics |
| pharmgkb | PA165964473 | Pathway_PA165964473 |
| kegg | hsa00250 | Alanine, aspartate and glutamate metabolism - Homo sapiens (human) |
| kegg | hsa00280 | Valine, leucine and isoleucine degradation - Homo sapiens (human) |
| kegg | hsa00410 | beta-Alanine metabolism - Homo sapiens (human) |
| kegg | hsa00640 | Propanoate metabolism - Homo sapiens (human) |
| kegg | hsa00650 | Butanoate metabolism - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| humancyc | BETA-ALA-DEGRADATION-I-PWY | β-alanine degradation |
| humancyc | GLUDEG-I-PWY | GABA shunt |
| humancyc | PWY-6535 | 4-aminobutyrate degradation |
| humancyc | VALDEG-PWY | valine degradation |
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
| reactome | R-HSA-916853 | Degradation of GABA |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABAT
CLASSFICATION
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