Abat Gene Summary [Mouse]
The encoded gene product is responsible for catabolism of gamma-aminobutyric acid (GABA), a mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. Deficiency of this encoded protein includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | Abat |
| Official Name | 4-aminobutyrate aminotransferase [Source:MGI Symbol;Acc:MGI:2443582] |
| Ensembl ID | ENSMUSG00000057880 |
| Bio databases IDs | |
| Aliases | 4-aminobutyrate aminotransferase |
| Synonyms | 4-aminobutyrate aminotransferase, 9630038C02RIK, AI255750, beta-AlaAT, GABA-AT, GABAT, GABA TRANSAMINASE, Gm9851, hCG 1984265, I54, Laibat, NPD009, β-AlaAT |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Abat often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- L-lysine 6-transaminase
- 4-aminobutyrate aminotransferase, eukaryotic type
- (S)-3-amino-2-methylpropionate transaminase
- Aminotransferase class-III
- enzyme binding
- enzyme
- transaminase
- identical protein binding
- ornithine aminotransferase
- 4-aminobutyrate transaminase
- pyridoxal phosphate binding
- protein homodimerization
- transaminase, acetylornithine/succinylornithine family
- AAT_I
Pathways
Biological processes and signaling networks where the Abat gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- schizophrenia
- depressive disorder
- anxiety disorder
- dementia
- epithelial cancer
- adenoma formation
- liver cancer
- epilepsy
- bipolar depression
regulates
- insulin
- dopamine
- histone H3
- GABA
- succinic acid
role in cell
- proliferation
- acetylation in
- catabolism in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Abat gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- exploration behavior
- cerebellum development
- negative regulation of gamma-aminobutyric acid secretion
- gamma-aminobutyric acid catabolic process
- negative regulation of blood pressure
- copulation
- response to xenobiotic stimulus
- response to nicotine
- positive regulation of inhibitory postsynaptic membrane potential
- gamma-aminobutyric acid biosynthetic process
- gamma-aminobutyric acid metabolic process
- positive regulation of dopamine metabolic process
- response to ethanol
- locomotory behavior
- response to hypoxia
- positive regulation of uterine smooth muscle contraction
- behavioral response to cocaine
- response to iron ion
- positive regulation of heat generation
- positive regulation of insulin secretion
- negative regulation of dopamine secretion
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- 4-aminobutyrate transaminase complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- pyridoxal phosphate binding
- 4-aminobutyrate transaminase activity
- 4-aminobutyrate:2-oxoglutarate transaminase activity
- metal ion binding
- (S)-3-amino-2-methylpropionate transaminase activity
- succinate-semialdehyde dehydrogenase binding
- iron-sulfur cluster binding