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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
4-aminobutyrate aminotransferase
Summary
- Gene Symbol
-
- ABAT
- Aliases
-
- 4-aminobutyrate transaminase
- GABA transaminase
- GABA-T
- GABAT
- gamma-aminobutyrate aminotransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Aminotransferase
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Iron-sulfur
- Mitochondrion
- Neurotransmitter degradation
- Pyridoxal phosphate
- Reference proteome
- Transit peptide
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of blood pressure | ||
| negative regulation of dopamine secretion | ||
| positive regulation of uterine smooth muscle contraction | ||
| gamma-aminobutyric acid metabolic process | ||
| response to ethanol |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| 4-aminobutyrate transaminase complex | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| iron-sulfur cluster binding | ||
| (S)-3-amino-2-methylpropionate transaminase activity | ||
| identical protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050561 | Lennox-Gastaut syndrome | |
| DOID:0050562 | West syndrome | |
| DOID:0050741 | alcohol dependence | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060174 | GABA aminotransferase deficiency | |
| DOID:0060672 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | |
| DOID:0080855 | Parkinsonism | |
| DOID:0090103 | Huntington's disease-like 1 | |
| DOID:0090104 | Huntington's disease-like 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000098 | Tall stature |
| HP:0000278 | Retrognathia |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001321 | Cerebellar hypoplasia |
| Disease ID | Disease Name |
|---|---|
| OMIM:613163 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 177897 | WB:WBGene00001794 | ||
| 40188 | FB:FBgn0036927 | ||
| 103178828 | CALMI16436 | ||
| 102355159 | LATCH04020 | ||
| 378968 | ZFIN:ZDB-GENE-031006-4 | DANRE30908 | |
| 113572841 | ELEEL12014 | ||
| 115171987 | SALTR93039 | ||
| 115208398 | SALTR26911 | ||
| 100698450 | ORENI55446 | ||
| 398751 | Xenbase:XB-GENE-957497 |
