Identity
HGNC
LOCATION
5q34
LOCUSID
ALIAS
DEE19,ECA4,EIEE19,EJM,EJM5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2554
MIM: 137160
HGNC: 4075
Ensembl: ENSG00000022355
Variants:
dbSNP: 2554
ClinVar: 2554
TCGA: ENSG00000022355
COSMIC: GABRA1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444065 | Epilepsy | Disease | ClinicalAnnotation | associated | PD | 22591328 | |
| PA448785 | carbamazepine | Chemical | ClinicalAnnotation | associated | PD | 22591328 | |
| PA450947 | phenytoin | Chemical | ClinicalAnnotation | associated | PD | ||
| PA451846 | valproic acid | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37703949 | 2023 | Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. | 0 |
| 37703949 | 2023 | Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. | 0 |
| 35150350 | 2022 | Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. | 2 |
| 35150350 | 2022 | Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. | 2 |
| 34029007 | 2021 | Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1. | 8 |
| 34502550 | 2021 | In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines. | 5 |
| 34740144 | 2021 | GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients. | 7 |
| 34029007 | 2021 | Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1. | 8 |
| 34502550 | 2021 | In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines. | 5 |
| 34740144 | 2021 | GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients. | 7 |
| 32047208 | 2020 | A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. | 12 |
| 32102148 | 2020 | [Clinical phenotypes of epilepsy associated with GABRA1 gene variants]. | 2 |
| 32376074 | 2020 | Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia. | 5 |
| 32513829 | 2020 | Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy. | 6 |
| 32540960 | 2020 | Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA(A)) receptors. | 10 |
Citation
Dessen P
GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1)
Atlas Genet Cytogenet Oncol Haematol. 2012-07-01
Online version: http://atlasgeneticsoncology.org/gene/52778/gabra1
