GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1)

2012-07-01  

Identity

HGNC
GABRA1
LOCATION
5q34
LOCUSID
2554
ALIAS
DEE19,ECA4,EIEE19,EJM,EJM5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2554
MIM: 137160
HGNC: 4075
Ensembl: ENSG00000022355

Variants:

dbSNP: 2554
ClinVar: 2554
TCGA: ENSG00000022355
COSMIC: GABRA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000022355ENST00000023897P14867
ENSG00000022355ENST00000393943P14867
ENSG00000022355ENST00000428797P14867
ENSG00000022355ENST00000437025P14867
ENSG00000022355ENST00000519621E5RK60
ENSG00000022355ENST00000521339E5RHL6
ENSG00000022355ENST00000522651E5RJS3
ENSG00000022355ENST00000634335A0A0U1RRB2
ENSG00000022355ENST00000635096A0A0U1RQJ3
ENSG00000022355ENST00000635880P14867
ENSG00000022355ENST00000636340A0A1B0GU82
ENSG00000022355ENST00000636573P14867
ENSG00000022355ENST00000637044A0A1B0GVW9
ENSG00000022355ENST00000637827P14867
ENSG00000022355ENST00000638112P14867
ENSG00000022355ENST00000638159A0A1B0GV38

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Taste transductionKEGGko04742
Neuroactive ligand-receptor interactionKEGGhsa04080
Taste transductionKEGGhsa04742
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA A receptor activationREACTOMER-HSA-977441
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPD22591328
PA448785carbamazepineChemicalClinicalAnnotationassociatedPD22591328
PA450947phenytoinChemicalClinicalAnnotationassociatedPD
PA451846valproic acidChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
377039492023Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.0
377039492023Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.0
351503502022Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.2
351503502022Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.2
340290072021Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.8
345025502021In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.5
347401442021GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.7
340290072021Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.8
345025502021In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.5
347401442021GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.7
320472082020A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.12
321021482020[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].2
323760742020Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.5
325138292020Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy.6
325409602020Photoaffinity 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