Gene
abat
- ID
- ZDB-GENE-031006-4
- Name
- 4-aminobutyrate aminotransferase
- Symbol
- abat Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have 4-aminobutyrate transaminase activity and pyridoxal phosphate binding activity. Predicted to be involved in gamma-aminobutyric acid catabolic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in Alzheimer's disease; GABA aminotransferase deficiency; and Huntington's disease. Is expressed in blood; liver; nervous system; pronephric duct; and yolk syncytial layer. Orthologous to human ABAT (4-aminobutyrate aminotransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb880 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| GABA aminotransferase deficiency | Alliance | GABA-transaminase deficiency | 613163 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR049704 | Aminotransferases class-III pyridoxal-phosphate attachment site |
| Family | IPR004631 | 4-aminobutyrate aminotransferase, eukaryotic |
| Family | IPR005814 | Aminotransferase class-III |
| Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
| Protein | Length | 4-aminobutyrate aminotransferase, eukaryotic | Aminotransferase class-III | Aminotransferases class-III pyridoxal-phosphate attachment site | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:I3IRW7
|
500 |
Interactions and Pathways
No data available
Plasmids
No data available