Gamma-aminobutyric acid receptor subunit alpha-1

NameGamma-aminobutyric acid receptor subunit alpha-1
SynonymsGABA(A) receptor subunit alpha-1
Gene NameGABRA1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010561|Gamma-aminobutyric acid receptor subunit alpha-1
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
Number of residues456
Molecular Weight51801.395
Theoretical pI9.61
GO Classification
Functions
    inhibitory extracellular ligand-gated ion channel activity
drug binding
chloride channel activity
GABA-A receptor activity
Processes
    synaptic transmission
transmembrane transport
cellular response to histamine
transport
ion transmembrane transport
synaptic transmission, GABAergic
response to drug
chloride transmembrane transport
regulation of membrane potential
gamma-aminobutyric acid signaling pathway
neurological system process
Components
    GABA-A receptor complex
cell junction
integral component of plasma membrane
GABA receptor complex
synapse
postsynaptic membrane
neuron projection
plasma membrane
chloride channel complex
General FunctionInhibitory extracellular ligand-gated ion channel activity
Specific FunctionComponent 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).
Transmembrane Regions252-273 279-300 313-334 422-443
GenBank Protein ID31631
UniProtKB IDP14867
UniProtKB Entry NameGBRA1_HUMAN
Cellular LocationCell 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
GenBank Gene IDX13584
GeneCard IDNone
GenAtlas IDGABRA1
HGNC IDHGNC:4075
Chromosome Location5
Locus5q34-q35
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.[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.[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.[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.[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.[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.[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.[16718694 ]

Related FRC

FRCD ID Name Exact Mass Structure




F03756



Methiochlor


377.766




F03757



Chlorbenzylate


325.185




F03886



1,3,5-Trichlorobenzene


181.44




F03890



Fipronil


437.141




F03917



Mirex


545.51




F04038



Telodrin


411.73




F04039



Isodrin


364.896




F04218



Merbromin


751.666




F04329



Bromoxynil


276.915




F04791



Cicutoxin


258.361




F04797



Oenanthotoxin


258.361




F04973



Aflatrem


501.667




F04981



Penitrem C


602.212




F04987



Fumitremorgin A


579.694




F04988



Fumitremorgin B


479.577




F04989



Fumitremorgin C


379.46




F04993



Paspalinine


433.548




F05005



Janthitrem B


585.785




F05006



Janthitrem C


569.786




F05007



Janthitrem E


603.8




F05008



Janthitrem F


645.837




F05009



Janthitrem G


629.838




F05017



Paspalitrem A


501.667




F05020



Verrucosidin


416.514




F05021



Verruculogen


511.575




F05219



Bicuculline


367.357




F05454



Eszopiclone


388.812




F03280



Trichloroethylene


131.38




F03300



Endrin


380.895




F03303



Pentachlorophenol


266.323




F03324



Toluene


92.141




F03337



2,4,6-Trichlorophenol


197.439




F03341



Hexachlorobenzene


284.766




F03344



1,1,1-Trichloroethane


133.396




F03381



Chlordecone


490.609




F03386



Dicofol


370.475




F03405



1,2-Dichlorobenzene


146.998




F03424



1,2,4-Trichlorobenzene


181.44




F03879



Ethanol


46.07




F04687



Muscimol hydrobromide


195.016




F04744



Topiramate


339.36




F04752



Zolpidem


307.397




F04769



Diazepam


284.74




F04789



Anisatin


328.317




F04979



Penitrem A


634.21




F04980



Penitrem B


583.769




F05018



Paspalicine


417.549




F05019



Paxilline


435.564




F05465



Lormetazepam


335.184




F03275



Chloroform


119.369




F03276



Clofenotane


354.476




F03281



Dieldrin


380.895




F03283



Chlordane


409.758




F03285



Hexachlorobutadiene


260.744




F03291



Toxaphene


411.774




F03293



Tetrachloroethylene


165.822




F03294



Heptachlor


373.3




F03299



3,3'-Dichlorobenzidine


253.126




F03332



1,1-Dichloroethene


96.938




F03336



1,2-Dichloroethane


98.954




F03349



Chlorobenzene


112.556




F03360



1,2,3-Trichlorobenzene


181.44




F03370



Chlorpyrifos


350.575




F03388



1,1,2,2-Tetrachloroethane


167.838




F03395



1,4-Dichlorobenzene


146.998




F03396



1,1-Dichloroethane


98.954




F03400



Hexachlorocyclopentadiene


272.755