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gamma-aminobutyric acid type A receptor subunit alpha1
Summary
- Gene Symbol
-
- GABRA1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cell membrane
- Chloride channel
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Ligand-gated ion channel
- Postsynaptic cell membrane
- Receptor
- Reference proteome
- Signal
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of postsynaptic membrane potential | ||
| synaptic transmission, GABAergic | ||
| chloride transmembrane transport | ||
| gamma-aminobutyric acid signaling pathway | ||
| inhibitory synapse assembly |
| GO Term | Evidence Code | PMID |
|---|---|---|
| postsynapse | ||
| postsynaptic specialization membrane | ||
| cytoplasmic vesicle membrane | ||
| GABA-A receptor complex | ||
| plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| benzodiazepine receptor activity | ||
| transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | ||
| GABA-A receptor activity | ||
| GABA receptor activity | ||
| chloride channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- gamma-aminobutyric acid receptor subunit gamma
- Functional Category
-
- E: Amino acid transport and metabolism
- T: Signal transduction mechanisms
- X: Mobilome: prophages, transposons
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080431 | developmental and epileptic encephalopathy 19 | |
| DOID:0111314 | idiopathic generalized epilepsy 13 | |
| DOID:13413 | hepatic encephalopathy | |
| DOID:1827 | idiopathic generalized epilepsy | |
| DOID:7725 | epilepsy with generalized tonic-clonic seizures |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 117016911 | RHIFE23091 | |||
| 118301110 | SCOMX23685 | |||
| 118893375 | BALMU06910 | |||
| 122201507 | PANLE12851 | |||
| 129037372 | 9600_0:001653 |
