Recombinant Human Gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1), partial

1. high-resolution cryo-electron microscopy structures of the human alpha1beta2gamma2 GABAA receptor, the predominant isoform in the adult brain, in complex with GABA and the benzodiazepine site antagonist flumazenil, the first-line clinical treatment for benzodiazepine overdose PMID: 29950725
2. GBARA1 SNPs are associated with Lennox-Gastaut syndrome and juvenile myoclonic epilepsy in Indian patients. PMID: 29785705
3. Gabra1 mutations significantly reduced surface expression of GABAARs in neurons and the alpha1A295D and alpha1T10'I mutations reduces expression in HEK293 cells. In addition, the alpha1D192N and alpha1T10'I mutations significantly accelerated the decay rate of GABAergic IPSCs. The alpha1T10'I mutation also reduced the number of GABAergic synaptic contacts in neurons. PMID: 28870844
4. This study showed that GABRA1 expression in lateral nucleus of amygdala and dentate gyrus, ca1 region and subiculum of hippocampus. PMID: 29023704
5. This study shown that the two SNPs located in the GABRA1 gene, rs4263535 (Pallele=0.002; uncorrected) and rs1157122 (Pallele=0.006; uncorrected) showed associated with Japanese individuals affected with schizophrenia. PMID: 28073605
6. Rs2279020 (GABRA1, G > A) variation was associated with a decreased risk of developing VPA-resistant epilepsy. PMID: 27855134
7. The results further substantiate the role of GABRA1 in phenytoin mode of action in epilepsy. PMID: 27245092
8. Our study findings showed COMT polymorphism conferring risk and GABRA1 and GABRA2 polymorphism as a protective genotype for Indian male with alcohol dependence (AD) PMID: 28361821
9. The polymorphism of rs1129647 and rs2290733 of GABRA1 has a nominal relationship with amphetamine-induced psychotic disorder . PMID: 27080428
10. Study confirms GABRA1 mutations as significant contributors to the genetic etiology of both mild and severe epilepsy syndromes. GABRA1 mutations, through a possible mechanism of haploinsufficiency, cause an impairment of the GABA inhibitory function leading to a wide spectrum of epilepsy phenotypes. PMID: 27521439
11. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. PMID: 27613244
12. The alpha1 was expressed prenatally in the molecular and Purkinje cell layer, but only postnatally in the granule cell layer and the dentate nucleus. PMID: 26518133
13. This study clarifies a Grp94-mediated ERAD pathway for GABAA receptors, which provides a novel way to finely tune their function in physiological and pathophysiological conditions. PMID: 26945068
14. GABRA1 missense mutations were linked to early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome. PMID: 26918889
15. Polymorphism rs4263535 in GABRA1 intron 4 was associated with deeper sedation by intravenous midazolam. PMID: 26249742
16. 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. PMID: 26321868
17. Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex. PMID: 24923912
18. The role of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors was most prominent in the alpha1 subunit. Deletion reduced the number of functional receptors. PMID: 26016529
19. These results suggest that ARG1 and GABA influence both neural development and neuroblastoma and that benzodiazepines in clinical use may have potential applications for neuroblastoma therapy. PMID: 25437558
20. Tobacco smoking, but not nicotine interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal. PMID: 25453062
21. It is a neurotransmitter and plays a role in chloride ion influx of neurons by binding to GABA-A receptors. PMID: 25675822
22. Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR. PMID: 25086038
23. Data suggest that GABA(A) receptor subunits (alpha-1 and beta-3) are able to form homologous receptors with either delta (extrasynaptic) or gamma-2 subunits (synaptic); allosteric modulation appears similar in the presence of agonist etomidate. PMID: 24199598
24. This study demonstrates altered patterns of N-glycosylation of GABRA1 in the temporal lobe in schizophrenia. PMID: 23917429
25. GABRA1 and STXBP1 make a significant contribution to Dravet syndrome PMID: 24623842
26. Genome-wide association studies identify GABRA1 mutation releated to juvenile myoclonic epilepsy. PMID: 23756480
27. Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse. PMID: 23266428
28. Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor. PMID: 23677991
29. The finding reveals that the A15G variant at the GABA(A) alpha1 receptor subunit gene confers a high risk of zolpidem-induced complex sleep behaviors in Han Chinese. PMID: 23372267
30. Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators. PMID: 23308109
31. The SNP rs2081648 in GABAA receptor gene may be related to autism. No evidence for significant association between rs140682 and rs140679 polymorphisms and autism was found. PMID: 22883737
32. In cases of tramadol-induced death, the expression of GABA(A)alpha1 and GABA(B)1 significantly increased in the medulla oblongata solitary nucleus and ambiguous nucleus. PMID: 22393585
33. Data show that vasoactive peptide urotensin II receptor and GABA(A)R are co-expressed in cerebellar glial cells from rat brain slices, in human native astrocytes and in glioma cell line. PMID: 22563490
34. GABA-A receptor subunit alpha1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. PMID: 20848605
35. upregulation of miR-155 in glioblastoma may downregulate GABRA1 which renders tumor cells unresponsive to GABA signaling. PMID: 22470130
36. In comparison to healthy donors, chronic hepatitis C patients were found to present an increase in the expression of gamma-aminobutyric acid A receptor alpha1 subunit and a decrease in the expression of beta3 subunit in their blood mononuclear leukocytes. PMID: 22080424
37. Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues. PMID: 22038115
38. In schizophrenic subjects, mean GABA(A) receptor alpha1 subunit mRNA expression is significantly 40% lower in pyramidal cells but is not altered in interneurons. PMID: 21677653
39. Characterisation of the contribution of the GABA-benzodiazepine alpha1 receptor subtype to [(11)C]Ro15-4513 PET images. PMID: 22214903
40. Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor. PMID: 21729720
41. Photoaffinity labeling and pepetide mapping data suggest that a homologous etomidate/general anesthetic binding site exists at the beta3-beta3 subunit interface in alpha1beta3 GABA receptor type A, specifically involving beta3-Met227. PMID: 22243422
42. In subjects with schizophrenia, mean GABA(A) alpha1 receptor subunit mRNA expression is 17% lower in layers 3 and 4 of the dorsolateral prefrontal cortex. PMID: 20843900
43. M3-M4 intracellular loop subdomains control specific aspects of gamma-aminobutyric acid type A receptor function PMID: 21903587
44. Results report the identification of three novel mutations in two GABAA receptor subunits, GABRA1 and GABRG2, found in patients with idiopathic generalized epilepsy. PMID: 21714819
45. Data indicate the selectivity of some selected compounds were assessed in recombinant alpha(1)beta(2)gamma(2)L, alpha(2)beta(1)gamma(2)L, and alpha(5)beta(2)gamma(2)L GABA(A) receptors. PMID: 21751815
46. GABA(A) receptor dynamics are regulated by interaction with purinergic P2X(2) receptors PMID: 21343285
47. alpha1Arg120 and beta2Asp163 form a state-dependent salt bridge, interacting when GABA is bound to the receptor but not when the receptor is in the unbound state. PMID: 21209255
48. Studies indicate that the GABA(A) receptor is underexpressed in the fragile X syndrome and raised hopes for targeted therapy of the disorder. PMID: 21057732
49. PKC-dependent phosphorylation of the alpha4 subunit plays a significant role in enhancing the cell surface stability and activity of GABA(A)R subtypes that mediate tonic inhibition PMID: 20940303
50. The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls PMID: 20692323

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HGNC: 4075

OMIM: 137160

KEGG: hsa:2554

STRING: 9606.ENSP00000023897

UniGene: Hs.175934