Tclin ABAT 4-aminobutyrate aminotransferase, mitochondrial

Protein Summary

Description

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. 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]

Uniprot Accession IDs

• P80404
• A8K386
• Q16260
• Q8N5W2
• Q96BG2
• Q99800

Gene Name

• ABAT

Ensembl ID

• ENST00000268251
• ENSP00000268251
• ENSG00000183044
• ENST00000396600
• ENSP00000379845
• ENST00000425191
• ENSP00000411916

Symbol

• GABAT
• GABAT
• NPD009
• GABA-AT

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.99
transcription factor perturbation	0.96
kinase perturbation	0.81
molecular function	0.81
cellular component	0.77

Protein Classes

PANTHER Classes

Protein / Transferase / Transaminase / 4-aminobutyrate Aminotransferase, Mitochondrial

DTO Classes

Protein / Enzyme / Transferase / Transaminase / 4-aminobutyrate Aminotransferase, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 142.04   (req: < 5)

Gene RIFs: 16   (req: <= 3)

Antibodies: 294   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 142.04   (req: >= 5)

Gene RIFs: 16   (req: > 3)

Antibodies: 294   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 32

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1