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
188210082009GABA(A) receptor downregulation in brains of subjects with autism.157
125296442003Coupling of agonist binding to channel gating in the GABA(A) receptor.134
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186398642008GABAA receptor promoter hypermethylation in suicide brain: implications for the involvement of epigenetic processes.74
189227882008BDNF selectively regulates GABAA receptor transcription by activation of the JAK/STAT pathway.64
150168062004Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation.62
246238422014GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.62
208439002011Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.57
167706062006Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.56
222434222012Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue.55

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