Recombinant Human Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 (GABRA1) Protein (His)

Name: Recombinant Human Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 (GABRA1) Protein (His)
Brand: Beta LifeScience
SKU: BLC-04905P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 (GABRA1) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	P14867
Target Symbol	GABRA1
Synonyms	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
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	QPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIG
Expression Range	28-251aa
Protein Length	Partial
Mol. Weight	29.9 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	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.
Subcellular Location	Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane.
Protein Families	Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRA1 sub-subfamily
Database References	HGNC: 4075 OMIM: 137160 KEGG: hsa:2554 STRING: 9606.ENSP00000023897 UniGene: PMID: 29950725 GBARA1 SNPs are associated with Lennox-Gastaut syndrome and juvenile myoclonic epilepsy in Indian patients. PMID: 29785705 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 This study showed that GABRA1 expression in lateral nucleus of amygdala and dentate gyrus, ca1 region and subiculum of hippocampus. PMID: 29023704 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 Rs2279020 (GABRA1, G > A) variation was associated with a decreased risk of developing VPA-resistant epilepsy. PMID: 27855134 The results further substantiate the role of GABRA1 in phenytoin mode of action in epilepsy. PMID: 27245092 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 The polymorphism of rs1129647 and rs2290733 of GABRA1 has a nominal relationship with amphetamine-induced psychotic disorder . PMID: 27080428 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 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 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 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 GABRA1 missense mutations were linked to early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome. PMID: 26918889 Polymorphism rs4263535 in GABRA1 intron 4 was associated with deeper sedation by intravenous midazolam. PMID: 26249742 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 Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex. PMID: 24923912 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 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 Tobacco smoking, but not nicotine interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal. PMID: 25453062 It is a neurotransmitter and plays a role in chloride ion influx of neurons by binding to GABA-A receptors. PMID: 25675822 Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR. PMID: 25086038 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 This study demonstrates altered patterns of N-glycosylation of GABRA1 in the temporal lobe in schizophrenia. PMID: 23917429 GABRA1 and STXBP1 make a significant contribution to Dravet syndrome PMID: 24623842 Genome-wide association studies identify GABRA1 mutation releated to juvenile myoclonic epilepsy. PMID: 23756480 Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse. PMID: 23266428 Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor. PMID: 23677991 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 Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators. PMID: 23308109 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 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 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 GABA-A receptor subunit alpha1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. PMID: 20848605 upregulation of miR-155 in glioblastoma may downregulate GABRA1 which renders tumor cells unresponsive to GABA signaling. PMID: 22470130 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 Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues. PMID: 22038115 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 Characterisation of the contribution of the GABA-benzodiazepine alpha1 receptor subtype to [(11)C]Ro15-4513 PET images. PMID: 22214903 Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor. PMID: 21729720 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 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 M3-M4 intracellular loop subdomains control specific aspects of gamma-aminobutyric acid type A receptor function PMID: 21903587 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 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 GABA(A) receptor dynamics are regulated by interaction with purinergic P2X(2) receptors PMID: 21343285 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 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 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 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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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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