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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]
ABAT (4-Aminobutyrate Aminotransferase) is a Protein Coding gene. Diseases associated with ABAT include Gaba-Transaminase Deficiency and Homocarnosinosis. Among its related pathways are Valproic acid pathway and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron-sulfur cluster binding. An important paralog of this gene is AGXT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003867 | contributes_to 4-aminobutyrate transaminase activity | IDA | 15528998 |
GO:0008483 | transaminase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0030170 | pyridoxal phosphate binding | IBA,IDA | 15650327 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,ISS | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0032144 | 4-aminobutyrate transaminase complex | IDA | 15528998 |
GO:0043005 | neuron projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Neurotransmitter Release Cycle | ||
3 | Transmission across Chemical Synapses |
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4 | Alanine, aspartate and glutamate metabolism | ||
5 | beta-Alanine metabolism (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0007568 | aging | IEA | -- |
GO:0007620 | copulation | IEA | -- |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0009448 | gamma-aminobutyric acid metabolic process | IDA | 15528998 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vigabatrin | Approved | Pharma | Inhibitor, Inhibition, Target, inhibitor | GABA-T inhibitor | 27 | |
Phenelzine | Approved | Pharma | Target, inhibitor | 10 | ||
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, inhibitor | 16 | ||
Pyruvic acid | Approved, Investigational | Nutra | Target, inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(S)-b-aminoisobutyric acid |
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4249-19-8 |
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(S)-Methylmalonic acid semialdehyde |
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99043-16-0 |
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2-Methyl-3-oxopropanoic acid |
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6236-08-4 |
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4-ene-Valproic acid |
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Beta-Alanyl-CoA |
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Compound | Action | Cas Number |
---|---|---|
3-Methyl-GABA | Activator of GABA amino-transferase | 71424-95-8 |
N-Acetyltryptamine | Substrate for serotonin N-acetyl transferase | 1016-47-3 |
P-3FAX-Neu5Ac | Sialic acid analog; sialyltransferase inhibitor | 117405-58-0 |
Tunicamycin | Antibiotic; GlcNAc phosphotransferase inhibitor | 11089-65-9 |
Vigabatrin | GABA-T inhibitor | 60643-86-9 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABAT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABAT 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Abat 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Abat 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ABAT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abat 30 |
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Str.7135 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | MGC68458 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | abat 30 31 |
|
OneToOne | |
Dr.5312 30 |
|
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG7433 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006966 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | gta-1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL050C 30 |
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||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UGA1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F20548g 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU08998 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | uga1 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10243 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9327 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639628 | Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency | 8,768,834(+) | C/T | MISSENSE_VARIANT | |
641881 | Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency | 8,748,129(+) | A/G | MISSENSE_VARIANT | |
645856 | Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency | 8,766,250(+) | G/C | MISSENSE_VARIANT | |
646722 | Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency | 8,750,537(+) | T/C | MISSENSE_VARIANT | |
649920 | Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency | 8,768,927(+) | A/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
gaba-transaminase deficiency |
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homocarnosinosis |
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succinic semialdehyde dehydrogenase deficiency |
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glycine encephalopathy |
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gamma-amino butyric acid metabolism disorder |
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