GABRR1 (gamma-aminobutyric acid type A receptor subunit rho1)

2014-11-01  

Identity

HGNC
LOCATION
6q15
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 2569
MIM: 137161
HGNC: 4090
Ensembl: ENSG00000146276

Variants:

dbSNP: 2569
ClinVar: 2569
TCGA: ENSG00000146276
COSMIC: GABRR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146276ENST00000369451P24046
ENSG00000146276ENST00000435811P24046
ENSG00000146276ENST00000454853P24046
ENSG00000146276ENST00000457434F8WB88
ENSG00000146276ENST00000611484P24046
ENSG00000146276ENST00000621627P24046

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
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 (rho) receptor activationREACTOMER-HSA-977442
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

References

Pubmed IDYearTitleCitations
208893122010A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.84
221690952012Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.64
182272722008Modular design of Cys-loop ligand-gated ion channels: functional 5-HT3 and GABA rho1 receptors lacking the large cytoplasmic M3M4 loop.59
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.47
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
204680642010Association study of 182 candidate genes in anorexia nervosa.30
155485352005Mapping the rho1 GABA(C) receptor agonist binding pocket. Constructing a complete model.24
195367852010GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.23
195367852010GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.23
122260752002Identification of a tyrosine in the agonist binding site of the homomeric rho1 gamma-aminobutyric acid (GABA) receptor that, when mutated, produces spontaneous opening.17

Citation

Dessen P

GABRR1 (gamma-aminobutyric acid type A receptor subunit rho1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63657/gabrr1