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

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

In Stock
  • 货号：
    CSB-EP009140HU
  • 规格：
    ￥2328
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
    GABRA1
  • Uniprot No.：
  • 别名：
    ECA4; EIEE19; EJM; EJM5; Gaba receptor alpha 1 polypeptide; GABA(A) receptor ; GABA(A) receptor subunit alpha 1; GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; GABRA 1; GABRA1; Gamma aminobutyric acid (GABA) A receptor alpha 1; Gamma aminobutyric acid A receptor alpha 1; Gamma aminobutyric acid receptor subunit alpha 1; Gamma aminobutyric acid type A receptor alpha1 subunit; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1_HUMAN
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    29.9 kDa
  • 表达区域：
    28-251aa
  • 氨基酸序列
    QPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIG
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer，50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer. The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity. GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection. Functions also as histamine receptor and mediates cellular responses to histamine.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Epilepsy, childhood absence 4 (ECA4); Epilepsy, idiopathic generalized 13 (EIG13); Juvenile myoclonic epilepsy 5 (EJM5); Epileptic encephalopathy, early infantile, 19 (EIEE19)
  • 亚细胞定位：
    Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane.
  • 蛋白家族：
    Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRA1 sub-subfamily
  • 数据库链接：

    HGNC: 4075

    OMIM: 137160

    KEGG: hsa:2554

    STRING: 9606.ENSP00000023897

    UniGene: Hs.175934