GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

2014-11-01  

Identity

HGNC
LOCATION
4p12
LOCUSID
ALIAS
DEE45,EIEE45
FUSION GENES

Other Information

Locus ID:

NCBI: 2560
MIM: 137190
HGNC: 4081
Ensembl: ENSG00000163288

Variants:

dbSNP: 2560
ClinVar: 2560
TCGA: ENSG00000163288
COSMIC: GABRB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163288ENST00000295454P18505
ENSG00000163288ENST00000295454X5DNL6
ENSG00000163288ENST00000510909P18505
ENSG00000163288ENST00000513567D6REM0

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Serotonergic synapseKEGGhsa04726
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

References

Pubmed IDYearTitleCitations
354162732024MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons.1
354162732024MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons.1
381366602023Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.0
381366602023Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.0
283462422017Genetic variation in GABRβ1 and the risk for developing alcohol dependence.4
284169702017DNA methylation profiling in peripheral lung tissues of smokers and patients with COPD.42
283462422017Genetic variation in GABRβ1 and the risk for developing alcohol dependence.4
284169702017DNA methylation profiling in peripheral lung tissues of smokers and patients with COPD.42
255667752015PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol.9
256604682015Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.17
255667752015PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol.9
256604682015Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.17
239174292014N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia.33
251926562014The GABRB1 gene is associated with thalamus volume and modulates the association between thalamus volume and intelligence.8
252410622014GABAB1 and GABAB2 receptor subunits co-expressed in cultured human RPE cells regulate intracellular Ca2+ via Gi/o-protein and phospholipase C pathways.7

Citation

Dessen P

GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63651/chromosome-explorer/new-content/