Property Summary

NCBI Gene PubMed Count 37
PubMed Score 50.36
PubTator Score 30.26

Knowledge Summary

Patent (521)

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.200 0.001
lung carcinoma 4.300 0.000

Synonym

Accession P24046 A1L401 B4DJK8 B4DQT5 B7ZBQ7 Q9BX06
Symbols

Gene

  TechDev Info (1)

Susumu Tomita Establishing cell lines

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
434974 screening 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen
504381 other 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen Set 2

Gene RIF (24)

PMID Text
26321868 Both GABAAalpha1 and GABAArho1 mRNAs and proteins were identified in cultured retinal pigment epithelial cells; antibody staining was mainly localized to the cell membrane and was also present in the cytoplasm but not in the nucleus.
23755849 Data indicate that all compounds from the study exhibited increased selectivity for GABAC.
22747884 The function of GABA(C) receptors can be enhanced by nitric oxide acting at the extracellular Cys-loop.
22169095 evidence supporta the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and autism spectrum disorder.
20889312 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20820800 found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor
20583128 GABRR1 is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features
20583128 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20056107 Data show that GABArho1 can tolerate removal of several residues that form the fourth transmembrane segment up to a critical point, signaled by W475, beyond which the mutant protein is translated but does not form functional receptors.
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AA Sequence

MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQRQRREVHEDAHKQVSPILRRSPDITKS      1 - 70
PLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFPSTNN     71 - 140
LSMTFDGRLVKKIWVPDMFFVHSKRSFIHDTTTDNVMLRVQPDGKVLYSLRVTVTAMCNMDFSRFPLDTQ    141 - 210
TCSLEIESYAYTEDDLMLYWKKGNDSLKTDERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFTLRRH    211 - 280
IFFFLLQTYFPATLMVMLSWVSFWIDRRAVPARVPLGITTVLTMSTIITGVNASMPRVSYIKAVDIYLWV    281 - 350
SFVFVFLSVLEYAAVNYLTTVQERKEQKLREKLPCTSGLPPPRTAMLDGNYSDGEVNDLDNYMPENGEKP    351 - 420
DRMMVQLTLASERSSPQRKSQRSSYVSMRIDTHAIDKYSRIIFPAAYILFNLIYWSIFS               421 - 479
//

Text Mined References (39)

PMID Year Title
26321868 2015 GABAA?1 and GABAA?1 subunits are expressed in cultured human RPE cells and GABAA receptor agents modify the intracellular calcium concentration.
23755849 2013 ?-aminobutyric acid(C) (GABAC) selective antagonists derived from the bioisosteric modification of 4-aminocyclopent-1-enecarboxylic acid: amides and hydroxamates.
22747884 2012 Nitric oxide potentiation of the homomeric ?1 GABA(C) receptor function.
22169095 2012 Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20820800 2011 Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
20583128 2010 Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20056107 2010 Functional impact of serial deletions at the C-terminus of the human GABArho1 receptor.
19717338 2009 Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
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