LOCUS       NM_001127645            3992 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha1
            (GABRA1), transcript variant 4, mRNA.
ACCESSION   NM_001127645
VERSION     NM_001127645.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3992)
  AUTHORS   Zhang,Q., Forster-Gibson,C., Bercovici,E., Bernardo,A., Ding,F.,
            Shen,W., Langer,K., Rex,T. and Kang,J.Q.
  TITLE     Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in
            mouse and human
  JOURNAL   Exp Neurol 369, 114537 (2023)
   PUBMED   37703949
  REMARK    GeneRIF: Epilepsy plus blindness in microdeletion of GABRA1 and
            GABRG2 in mouse and human.
REFERENCE   2  (bases 1 to 3992)
  AUTHORS   Amjad,M., Tabassum,A., Sher,K., Kumar,S., Zehra,S. and Fatima,S.
  TITLE     Impact of GABAA receptor gene variants (rs2279020 and rs211037) on
            the risk of predisposition to epilepsy: a case-control study
  JOURNAL   Neurol Sci 43 (7), 4431-4438 (2022)
   PUBMED   35150350
  REMARK    GeneRIF: Impact of GABAA receptor gene variants (rs2279020 and
            rs211037) on the risk of predisposition to epilepsy: a case-control
            study.
REFERENCE   3  (bases 1 to 3992)
  AUTHORS   Riaz,M., Abbasi,M.H., Sheikh,N., Saleem,T. and Virk,A.O.
  TITLE     GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy
            patients
  JOURNAL   Seizure 93, 88-94 (2021)
   PUBMED   34740144
  REMARK    GeneRIF: GABRA1 and GABRA6 gene mutations in idiopathic generalized
            epilepsy patients.
REFERENCE   4  (bases 1 to 3992)
  AUTHORS   Zheng,X., Wang,C., Zhai,N., Luo,X., Liu,G. and Ju,X.
  TITLE     In Silico Screening of Novel alpha1-GABAA Receptor PAMs towards
            Schizophrenia Based on Combined Modeling Studies of Imidazo
            [1,2-a]-Pyridines
  JOURNAL   Int J Mol Sci 22 (17), 9645 (2021)
   PUBMED   34502550
  REMARK    GeneRIF: In Silico Screening of Novel alpha1-GABAA Receptor PAMs
            towards Schizophrenia Based on Combined Modeling Studies of Imidazo
            [1,2-a]-Pyridines.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3992)
  AUTHORS   Wang,G.Y., Luan,Z.L., Che,N.W., Yan,D.B., Sun,X.W., Zhang,C. and
            Yin,J.
  TITLE     Inhibition of microRNA-129-2-3p protects against refractory
            temporal lobe epilepsy by regulating GABRA1
  JOURNAL   Brain Behav 11 (7), e02195 (2021)
   PUBMED   34029007
  REMARK    GeneRIF: Inhibition of microRNA-129-2-3p protects against
            refractory temporal lobe epilepsy by regulating GABRA1.
REFERENCE   6  (bases 1 to 3992)
  AUTHORS   Kang,I., Lindquist,D.G., Kinane,T.B., Ercolani,L., Pritchard,G.A.
            and Miller,L.G.
  TITLE     Isolation and characterization of the promoter of the human GABAA
            receptor alpha 1 subunit gene
  JOURNAL   J Neurochem 62 (4), 1643-1646 (1994)
   PUBMED   8133292
REFERENCE   7  (bases 1 to 3992)
  AUTHORS   Johnson,K.J., Sander,T., Hicks,A.A., van Marle,A., Janz,D.,
            Mullan,M.J., Riley,B.P. and Darlison,M.G.
  TITLE     Confirmation of the localization of the human GABAA receptor alpha
            1-subunit gene (GABRA1) to distal 5q by linkage analysis
  JOURNAL   Genomics 14 (3), 745-748 (1992)
   PUBMED   1330891
REFERENCE   8  (bases 1 to 3992)
  AUTHORS   Pritchett,D.B., Sontheimer,H., Shivers,B.D., Ymer,S.,
            Kettenmann,H., Schofield,P.R. and Seeburg,P.H.
  TITLE     Importance of a novel GABAA receptor subunit for benzodiazepine
            pharmacology
  JOURNAL   Nature 338 (6216), 582-585 (1989)
   PUBMED   2538761
REFERENCE   9  (bases 1 to 3992)
  AUTHORS   Schofield,P.R., Pritchett,D.B., Sontheimer,H., Kettenmann,H. and
            Seeburg,P.H.
  TITLE     Sequence and expression of human GABAA receptor alpha 1 and beta 1
            subunits
  JOURNAL   FEBS Lett 244 (2), 361-364 (1989)
   PUBMED   2465923
REFERENCE   10 (bases 1 to 3992)
  AUTHORS   Garrett,K.M., Duman,R.S., Saito,N., Blume,A.J., Vitek,M.P. and
            Tallman,J.F.
  TITLE     Isolation of a cDNA clone for the alpha subunit of the human GABA-A
            receptor
  JOURNAL   Biochem Biophys Res Commun 156 (2), 1039-1045 (1988)
   PUBMED   2847710
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC307259.1, BC030696.1 and
            AC021079.4.
            
            On Jun 1, 2019 this sequence version replaced NM_001127645.1.
            
            Summary: This gene encodes a gamma-aminobutyric acid (GABA)
            receptor. GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA-A receptors, which are
            ligand-gated chloride channels. Chloride conductance of these
            channels can be modulated by agents such as benzodiazepines that
            bind to the GABA-A receptor. GABA-A receptors are pentameric,
            consisting of proteins from several subunit classes: alpha, beta,
            gamma, delta and rho. Mutations in this gene cause juvenile
            myoclonic epilepsy and childhood absence epilepsy type 4. Multiple
            transcript variants encoding the same protein have been identified
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) differs in the 5' UTR,
            compared to variant 1. Variants 1-7 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.234212.1,
                                           SRR1660807.52585.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-527               DC307259.1         21-547
            528-2223            BC030696.1         525-2220
            2224-3980           AC021079.4         96073-97829         c
            3981-3992           AC021079.4         96061-96072         c
FEATURES             Location/Qualifiers
     source          1..3992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..3992
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha1"
                     /db_xref="GeneID:2554"
                     /db_xref="HGNC:HGNC:4075"
                     /db_xref="MIM:137160"
     exon            1..57
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            58..146
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1443
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="gamma-aminobutyric acid receptor subunit alpha-1;
                     GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha
                     1; gamma-aminobutyric acid (GABA) A receptor, alpha 1;
                     gamma-aminobutyric acid type A receptor alpha1 subunit;
                     GABAAR subunit alpha-1"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-1
                     precursor"
                     /protein_id="NP_001121117.1"
                     /db_xref="CCDS:CCDS4357.1"
                     /db_xref="GeneID:2554"
                     /db_xref="HGNC:HGNC:4075"
                     /db_xref="MIM:137160"
                     /translation="MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTR
                     ILDRLLDGYDNRLRPGLGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERL
                     KFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRL
                     TVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQY
                     DLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNR
                     ESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATV
                     NYFTKRGYAWDGKSVVPEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKS
                     ATIEPKEVKPETKPPEPKKTFNSVSKIDRLSRIAFPLLFGIFNLVYWATYLNREPQLK
                     APTPHQ"
     exon            147..259
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            260..327
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            328..548
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            549..631
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            632..775
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            776..928
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1131
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..3992
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3947..3952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="hexamer: AATAAA"
     regulatory      3969..3974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="hexamer: AATAAA"
     polyA_site      3975
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="major polyA site"
     polyA_site      3992
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
ORIGIN      
        1 ggagagcgag cgagcgagca agggagcgag caggacagga gcctgatccc acagcagctg
       61 ctccagcccg cgatgaggaa aagtccaggt ctgtctgact gtctttgggc ctggatcctc
      121 cttctgagca cactgactgg aagaagctat ggacagccgt cattacaaga tgaacttaaa
      181 gacaatacca ctgtcttcac caggattttg gacagactcc tagatggtta tgacaatcgc
      241 ctgagaccag gattgggaga gcgtgtaacc gaagtgaaga ctgatatctt cgtcaccagt
      301 ttcggacccg tttcagacca tgatatggaa tatacaatag atgtattttt ccgtcaaagc
      361 tggaaggatg aaaggttaaa atttaaagga cctatgacag tcctccggtt aaataaccta
      421 atggcaagta aaatctggac tccggacaca tttttccaca atggaaagaa gtcagtggcc
      481 cacaacatga ccatgcccaa caaactcctg cggatcacag aggatggcac cttgctgtac
      541 accatgaggc tgacagtgag agctgaatgt ccgatgcatt tggaggactt ccctatggat
      601 gcccatgctt gcccactaaa atttggaagt tatgcttata caagagcaga agttgtttat
      661 gaatggacca gagagccagc acgctcagtg gttgtagcag aagatggatc acgtctaaac
      721 cagtatgacc ttcttggaca aacagtagac tctggaattg tccagtcaag tacaggagaa
      781 tatgttgtta tgaccactca tttccacttg aagagaaaga ttggctactt tgttattcaa
      841 acatacctgc catgcataat gacagtgatt ctctcacaag tctccttctg gctcaacaga
      901 gagtctgtac cagcaagaac tgtctttgga gtaacaactg tgctcaccat gacaacattg
      961 agcatcagtg ccagaaactc cctccctaag gtggcttatg caacagctat ggattggttt
     1021 attgccgtgt gctatgcctt tgtgttctca gctctgattg agtttgccac agtaaactat
     1081 ttcactaaga gaggttatgc atgggatggc aaaagtgtgg ttccagaaaa gccaaagaaa
     1141 gtaaaggatc ctcttattaa gaaaaacaac acttacgctc caacagcaac cagctacacc
     1201 cctaatttgg ccaggggcga cccgggctta gccaccattg ctaaaagtgc aaccatagaa
     1261 cctaaagagg tcaagcccga aacaaaacca ccagaaccca agaaaacctt taacagtgtc
     1321 agcaaaattg accgactgtc aagaatagcc ttcccgctgc tatttggaat ctttaactta
     1381 gtctactggg ctacgtattt aaacagagag cctcagctaa aagcccccac accacatcaa
     1441 tagatctttt actcacattc tgttgttcag tcctctgcac tgggaattta tttatgttct
     1501 caacgcagta attcccatct gctttattgc ctctgtctta aagaatttga aagtttcctt
     1561 attttcataa ttcatttaag aacaagagac ccctgtctgg cagtctggag caaagcagac
     1621 tatgcagctt ggagacagga ttctgacaga gcaagcgaaa gagcaaagtc atgtcagaag
     1681 gagacagaat gagagagaaa agagggggaa gatggttcaa agatacaaga aaaagtagaa
     1741 aaaaaaataa cacttaacta aaacccctag gtcatttgta gatatatatt tccaaatatt
     1801 ctaaaaaaga tactgtatat gtcaaaaata tttttatgtg aaggtgtttc aaagggtaaa
     1861 ttataaatgt ttcatgaaga aaaaatttta aaaatctacg tctttattac acaaactatg
     1921 gtgtgcttat gtttttgttt tgctttttaa actgatgtat agctttaaca ttttgtttcc
     1981 aaagctgaag atccccattc tttctctttg aaaaaaaaaa aggcctaatg cattattttg
     2041 tcataaaatg ctattttaaa attcatggaa ctttcatacg taaaggtgca gttgctcatt
     2101 gtagagcaca tttagtccaa tgaagataaa tgctttaaat agtttacttc actttcatct
     2161 gagcttttac cactagactc aaggaagaat aattttaaca gacatgtata ctccatagaa
     2221 actaaactaa aatagtttaa aaatattccc tttttcaccc tattttcaga tagcacatga
     2281 gcccaacact cacttaattc tcattatgaa gatgttttta gaggggcaaa aatattttgc
     2341 aagctctgga attgttgaat gtattctttt atataactac attaaaagct ttagattgaa
     2401 atttatgact agcaaacaaa aatagaatat ataaacgata tatgtaaata tacagcatga
     2461 gattgtacat tttttacttt tttaaaattg tgttcttaaa atattgtgta agaatcactg
     2521 cacttagctg ttggaatgtt gttaaatgct atggaaatac atttagaacc tgcatttaag
     2581 aacagaacag caagtatgaa ccacatggaa cttaaaacat atgggtgtga agtccactta
     2641 tgtagacaaa acttataatt tccaaactgt tgtctagtat acagtgatca gttgctctct
     2701 gttcaagtca ttccacacat ttccctattt taggctatta taatatagaa agaaaatggg
     2761 aagcattagt tggagctaga aaatgaactg tatattattg ctatatttgc taataccaac
     2821 tatttcaata agtgttgtac catatgtagc attaaatata aaatacataa aagaatgtac
     2881 agaaaatagc ttttattgag taatattaca tttcatttat actgtagcaa tatatttgta
     2941 ggtatactat gtaagggctt taaataaaag aggtccatta atacttcctt ataaaaattc
     3001 tagtctgttt cattactgcc cagatgtttt agagataaat atttatgcag aaggtatttt
     3061 tgaagtctcc ttttgtctga tagagtttaa cagatattta aatttagtgc tcagaatcca
     3121 caagtcacgg tctaaacaca cttagaatac tacagcataa atctgttagc attattgcca
     3181 aataagacag ttgggatcca aacccaagtc ttgagcaatg tttttctcaa aaagctgcta
     3241 tccaatgata taggaaaata cattgtgttt tcctaaacac acttttcttt ttaaatgtgc
     3301 ttcattgttt gatttggtcc tgcctaaatt tcacaagcta ggccaatgaa ggctgaatca
     3361 aagacatttc atccaccaat atcatgtgta gatattatgt atagaaaata aaataaatta
     3421 tggctctaac ttctgtgttg ctgtttatct tgttattttt cggcgttata ctaatgtgtt
     3481 tattgagagc attttacctt ccagacttct catggctaac ttttggtctg tattttgctc
     3541 cttagatgtg aatatttctt attagtctgc ttcctgctac gcaatgactg catttctatc
     3601 atttctcagt ttgttagtat atgtggatag tattctactg tataaatgat tgcaaagttt
     3661 atcaaaaaca aattattata tgtagctttt ctacagtgct ttgctaaacc atgtagtact
     3721 agttaagtct tccttgaaaa taaagataca ctcttatagg ggacagttcc tgttcactcc
     3781 caggaaactt ttttaaaaga tgacactgaa tgtttattgc actttagtgc agtgaagtgg
     3841 caataaaacc taacatgaat caaggttgtt tatggcagat gcatgtgttg ctttacagag
     3901 tttagcaaaa gctcttaatt ttatgtcata ctgtattcta ctgaataata aagctaacat
     3961 tattcaataa taaaatggaa tacttgactc tc
//
