Gamma-aminobutyric acid receptor subunit alpha-1

Details

Name
Gamma-aminobutyric acid receptor subunit alpha-1
Synonyms
  • GABA(A) receptor subunit alpha-1
Gene Name
GABRA1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010561|Gamma-aminobutyric acid receptor subunit alpha-1
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
Number of residues
456
Molecular Weight
51801.395
Theoretical pI
9.61
GO Classification
Functions
chloride channel activity / drug binding / GABA-A receptor activity / inhibitory extracellular ligand-gated ion channel activity
Processes
cellular response to histamine / chloride transmembrane transport / gamma-aminobutyric acid signaling pathway / ion transmembrane transport / neurological system process / regulation of membrane potential / response to drug / synaptic transmission / synaptic transmission, GABAergic / transmembrane transport / transport
Components
cell junction / chloride channel complex / GABA receptor complex / GABA-A receptor complex / integral component of plasma membrane / neuron projection / plasma membrane / postsynaptic membrane / synapse
General Function
Inhibitory extracellular ligand-gated ion channel activity
Specific Function
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).
Pfam Domain Function
Transmembrane Regions
252-273 279-300 313-334 422-443
Cellular Location
Cell junction
Gene sequence
>lcl|BSEQ0010562|Gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1)
ATGAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGATCCTCCTTCTGAGCACA
CTGACTGGAAGAAGCTATGGACAGCCGTCATTACAAGATGAACTTAAAGACAATACCACT
GTCTTCACCAGGATTTTGGACAGACTCCTAGATGGTTATGACAATCGCCTGAGACCAGGA
TTGGGAGAGCGTGTAACCGAAGTGAAGACTGATATCTTCGTCACCAGTTTCGGACCCGTT
TCAGACCATGATATGGAATATACAATAGATGTATTTTTCCGTCAAAGCTGGAAGGATGAA
AGGTTAAAATTTAAAGGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAA
ATCTGGACTCCGGACACATTTTTCCACAATGGAAAGAAGTCAGTGGCCCACAACATGACC
ATGCCCAACAAACTCCTGCGGATCACAGAGGATGGCACCTTGCTGTACACCATGAGGCTG
ACAGTGAGAGCTGAATGTCCGATGCATTTGGAGGACTTCCCTATGGATGCCCATGCTTGC
CCACTAAAATTTGGAAGTTATGCTTATACAAGAGCAGAAGTTGTTTATGAATGGACCAGA
GAGCCAGCACGCTCAGTGGTTGTAGCAGAAGATGGATCACGTCTAAACCAGTATGACCTT
CTTGGACAAACAGTAGACTCTGGAATTGTCCAGTCAAGTACAGGAGAATATGTTGTTATG
ACCACTCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCA
TGCATAATGACAGTGATTCTCTCACAAGTCTCCTTCTGGCTCAACAGAGAGTCTGTACCA
GCAAGAACTGTCTTTGGAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCC
AGAAACTCCCTCCCTAAGGTGGCTTATGCAACAGCTATGGATTGGTTTATTGCCGTGTGC
TATGCCTTTGTGTTCTCAGCTCTGATTGAGTTTGCCACAGTAAACTATTTCACTAAGAGA
GGTTATGCATGGGATGGCAAAAGTGTGGTTCCAGAAAAGCCAAAGAAAGTAAAGGATCCT
CTTATTAAGAAAAACAACACTTACGCTCCAACAGCAACCAGCTACACCCCTAATTTGGCC
AGGGGCGACCCGGGCTTAGCCACCATTGCTAAAAGTGCAACCATAGAACCTAAAGAGGTC
AAGCCCGAAACAAAACCACCAGAACCCAAGAAAACCTTTAACAGTGTCAGCAAAATTGAC
CGACTGTCAAGAATAGCCTTCCCGCTGCTATTTGGAATCTTTAACTTAGTCTACTGGGCT
ACGTATTTAAACAGAGAGCCTCAGCTAAAAGCCCCCACACCACATCAATAG
Chromosome Location
5
Locus
5q34-q35
External Identifiers
ResourceLink
UniProtKB IDP14867
UniProtKB Entry NameGBRA1_HUMAN
GenBank Protein ID31631
GenBank Gene IDX13584
GenAtlas IDGABRA1
HGNC IDHGNC:4075
General References
  1. Schofield PR, Pritchett DB, Sontheimer H, Kettenmann H, Seeburg PH: Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. 1989 Feb 27;244(2):361-4. [PubMed:2465923]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  3. Garrett KM, Duman RS, Saito N, Blume AJ, Vitek MP, Tallman JF: Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor. Biochem Biophys Res Commun. 1988 Oct 31;156(2):1039-45. [PubMed:2847710]
  4. Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P: Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. Eur J Neurosci. 2011 Jul;34(2):237-49. doi: 10.1111/j.1460-9568.2011.07767.x. Epub 2011 Jun 30. [PubMed:21714819]
  5. Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. [PubMed:24623842]
  6. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA: Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. Epub 2002 May 6. [PubMed:11992121]
  7. Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A: A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006 Jun;59(6):983-7. [PubMed:16718694]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00241Butalbitalapproved, illicityespotentiatorDetails
DB00273TopiramateapprovedyesagonistDetails
DB00292EtomidateapprovedyesagonistDetails
DB00306Talbutalapproved, illicityespotentiatorDetails
DB00312Pentobarbitalapproved, investigational, vet_approvedyespotentiatorDetails
DB00418Secobarbitalapproved, vet_approvedyespotentiatorDetails
DB00463MetharbitalwithdrawnyespotentiatorDetails
DB00474MethohexitalapprovedyesantagonistDetails
DB00599Thiopentalapproved, vet_approvedyespotentiatorDetails
DB00683Midazolamapproved, illicityespotentiatorDetails
DB00690Flurazepamapproved, illicit, investigationalyespotentiatorDetails
DB00794Primidoneapproved, vet_approvedyespotentiatorDetails
DB00837ProgabideexperimentalyesagonistDetails
DB00842OxazepamapprovedyespotentiatorDetails
DB00849MethylphenobarbitalapprovedyespotentiatorDetails
DB00898EthanolapprovedyesagonistDetails
DB01107Methyprylonapproved, illicit, withdrawnyesagonistDetails
DB01154Thiamylalapproved, vet_approvedyesagonistDetails
DB01174Phenobarbitalapproved, investigationalyespotentiatorDetails
DB01205FlumazenilapprovedyesantagonistDetails
DB00425ZolpidemapprovedyesagonistDetails
DB00466PicrotoxinexperimentalyesantagonistDetails
DB00753Isofluraneapproved, vet_approvedyesagonistDetails
DB00801Halazepamapproved, illicit, withdrawnyespotentiatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespotentiatorDetails
DB00962Zaleplonapproved, illicit, investigationalyespotentiatorDetails
DB01028Methoxyfluraneapproved, investigational, vet_approvedyesagonistDetails
DB01159Halothaneapproved, vet_approvedunknownother/unknownDetails
DB01236Sevofluraneapproved, vet_approvedyesagonistDetails
DB01355HexobarbitalexperimentalyespotentiatorDetails
DB01595NitrazepamapprovedyespotentiatorDetails
DB01353Butobarbitalapproved, illicityespotentiatorDetails
DB01589Quazepamapproved, illicityespotentiatorDetails
DB01588Prazepamapproved, illicityespotentiatorDetails
DB00371Meprobamateapproved, illicityesagonistDetails
DB05087GanaxoloneinvestigationalunknownDetails
DB00404Alprazolamapproved, illicit, investigationalunknownligandDetails
DB06470ClomethiazoleinvestigationalunknownDetails
DB00543AmoxapineapprovedunknownantagonistDetails
DB00402Eszopicloneapproved, investigationalyespotentiatorDetails
DB01594CinolazepamexperimentalyespotentiatorDetails
DB00231Temazepamapproved, investigationalyespotentiatorDetails
DB01558Bromazepamapproved, illicit, investigationalyespotentiatorDetails
DB00897Triazolamapproved, investigationalyespotentiatorDetails
DB01198ZopicloneapprovedyespotentiatorDetails
DB01381Ginkgo bilobaapproved, investigational, nutraceuticalunknownnegative modulatorDetails
DB01559Clotiazepamapproved, illicityespotentiatorDetails
DB01567Fludiazepamexperimental, illicityespotentiatorDetails
DB01215Estazolamapproved, illicityespotentiatorDetails
DB00546AdinazolamexperimentalyespotentiatorDetails
DB01341Dihydroquinidine barbiturateexperimentalyespotentiatorDetails
DB01351Amobarbitalapproved, illicityespotentiatorDetails
DB01354HeptabarbitalexperimentalyespotentiatorDetails
DB01352Aprobarbitalexperimental, illicityespotentiatorDetails
DB01483BarbitalillicityespotentiatorDetails
DB01496Barbituric acid derivativeexperimental, illicityespotentiatorDetails
DB01437Glutethimideapproved, illicityesagonistDetails
DB01587KetazolamapprovedyespotentiatorDetails
DB01346Quinidine barbiturateapprovedyespotentiatorDetails
DB09166EtizolamexperimentalyesagonistDetails
DB00395CarisoprodolapprovedunknownactivatormodulatorDetails
DB12458MuscimolinvestigationalunknownDetails
DB01544Flunitrazepamapproved, illicitunknownagonistDetails
DB13872Lormetazepamapprovedyespositive allosteric modulatorDetails
DB01189Desfluraneapprovedyespositive allosteric modulatorDetails
DB00659Acamprosateapproved, investigationalyespositive modulatorDetails
DB00404Alprazolamapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00237Butabarbitalapproved, illicityespositive allosteric modulatorDetails
DB00475Chlordiazepoxideapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00349Clobazamapproved, illicityespositive allosteric modulatorDetails
DB01068Clonazepamapproved, illicityespositive allosteric modulatorDetails
DB00628Clorazepic acidapproved, illicityespositive allosteric modulatorDetails
DB00186Lorazepamapprovedyespositive allosteric modulatorDetails
DB00189Ethchlorvynolapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00228Enfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00231Temazepamapproved, investigationalyespositive allosteric modulatorDetails
DB00241Butalbitalapproved, illicityespositive allosteric modulatorDetails
DB00292Etomidateapprovedyespositive allosteric modulatorDetails
DB00306Talbutalapproved, illicityespositive allosteric modulatorDetails
DB00312Pentobarbitalapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00371Meprobamateapproved, illicityespositive allosteric modulatorDetails
DB00402Eszopicloneapproved, investigationalyespositive allosteric modulatorDetails
DB00463Metharbitalwithdrawnyespositive allosteric modulatorDetails
DB00753Isofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00794Primidoneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00801Halazepamapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00818Propofolapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00842Oxazepamapprovedyespositive allosteric modulatorDetails
DB00897Triazolamapproved, investigationalyespositive allosteric modulatorDetails
DB01028Methoxyfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB01107Methyprylonapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB01159Halothaneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01205Flumazenilapprovedyespositive allosteric modulatorDetails
DB01215Estazolamapproved, illicityespositive allosteric modulatorDetails
DB01236Sevofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01437Glutethimideapproved, illicityespositive allosteric modulatorDetails
DB01588Prazepamapproved, illicityespositive allosteric modulatorDetails
DB01589Quazepamapproved, illicityespositive allosteric modulatorDetails
DB00543AmoxapineapprovedunknownbinderDetails
DB01708Prasteroneapproved, investigational, nutraceuticalunknownantagonistDetails
DB11582ThiocolchicosideexperimentalyesantagonistDetails
DB09118Stiripentolapprovedyesagonistpositive allosteric modulatorDetails
DB01956Taurineapproved, nutraceuticalyesagonistDetails
DB00555Lamotrigineapproved, investigationalunknowninhibitorDetails
DB11901Apalutamideapproved, investigationalunknownantagonistDetails
DB11859Brexanoloneapproved, investigationalyespositive allosteric modulatorDetails
DB01043Memantineapproved, investigationalunknownbinderDetails
DB00603Medroxyprogesterone acetateapproved, investigationalunknowninhibitorDetails
DB06579Adipiploninvestigationalyespartial agonistDetails
DB139835,7,2′-trihydroxy-6,8-dimethoxyflavoneexperimentalunknownligandDetails
DB00555Lamotrigineapproved, investigationalunknowninhibitorDetails
DB00334Olanzapineapproved, investigationalnoinhibitorDetails
DB15489MexazolamexperimentalunknowninhibitorDetails