LOCUS       NM_001127644            4238 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha1
            (GABRA1), transcript variant 3, mRNA.
ACCESSION   NM_001127644
VERSION     NM_001127644.2
KEYWORDS    RefSeq; MANE Select.
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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 DA075784.1, X14766.1, R60404.1,
            DA228536.1 and AC021079.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001127644.1.
            
            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 (3) 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 :: SRR1803615.33690.1,
                                           SRR1660807.197895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393943.10/ ENSP00000377517.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-292               DA075784.1         187-478
            293-470             X14766.1           189-366
            471-477             R60404.1           81-87
            478-679             X14766.1           374-575
            680-685             DA228536.1         231-236
            686-1714            X14766.1           582-1610
            1715-4226           AC021079.4         96073-98584         c
            4227-4238           AC021079.4         96061-96072         c
FEATURES             Location/Qualifiers
     source          1..4238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..4238
                     /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..303
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            304..392
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             319..1689
                     /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_001121116.1"
                     /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            393..505
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            506..573
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            574..794
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            795..877
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1021
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1174
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1377
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..4238
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4193..4198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="hexamer: AATAAA"
     regulatory      4215..4220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="hexamer: AATAAA"
     polyA_site      4221
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
                     /note="major polyA site"
     polyA_site      4238
                     /gene="GABRA1"
                     /gene_synonym="DEE19; ECA4; EIEE19; EJM; EJM5"
ORIGIN      
        1 ctatttcaca tccggtttgc cctgggacgt attactactg tcttggtaaa gagaaatctt
       61 ttgttgtata gctgcagatt ggatattggg aagcaaattt gggtgtgaaa tcttcagcaa
      121 aggagcacgc agagtccatg atggctcaga ccaagtgagt gagaggcaga gcgaggacgc
      181 ccctctgctc tggcgcgccc ggactcggac tcgcagactc gcgctggctc cagtctctcc
      241 acgattctct ctcccagact tttccccggt cttaagagat cctgtgtcca gagggggcct
      301 tagctgctcc agcccgcgat gaggaaaagt ccaggtctgt ctgactgtct ttgggcctgg
      361 atcctccttc tgagcacact gactggaaga agctatggac agccgtcatt acaagatgaa
      421 cttaaagaca ataccactgt cttcaccagg attttggaca gactcctaga tggttatgac
      481 aatcgcctga gaccaggatt gggagagcgt gtaaccgaag tgaagactga tatcttcgtc
      541 accagtttcg gacccgtttc agaccatgat atggaatata caatagatgt atttttccgt
      601 caaagctgga aggatgaaag gttaaaattt aaaggaccta tgacagtcct ccggttaaat
      661 aacctaatgg caagtaaaat ctggactccg gacacatttt tccacaatgg aaagaagtca
      721 gtggcccaca acatgaccat gcccaacaaa ctcctgcgga tcacagagga tggcaccttg
      781 ctgtacacca tgaggctgac agtgagagct gaatgtccga tgcatttgga ggacttccct
      841 atggatgccc atgcttgccc actaaaattt ggaagttatg cttatacaag agcagaagtt
      901 gtttatgaat ggaccagaga gccagcacgc tcagtggttg tagcagaaga tggatcacgt
      961 ctaaaccagt atgaccttct tggacaaaca gtagactctg gaattgtcca gtcaagtaca
     1021 ggagaatatg ttgttatgac cactcatttc cacttgaaga gaaagattgg ctactttgtt
     1081 attcaaacat acctgccatg cataatgaca gtgattctct cacaagtctc cttctggctc
     1141 aacagagagt ctgtaccagc aagaactgtc tttggagtaa caactgtgct caccatgaca
     1201 acattgagca tcagtgccag aaactccctc cctaaggtgg cttatgcaac agctatggat
     1261 tggtttattg ccgtgtgcta tgcctttgtg ttctcagctc tgattgagtt tgccacagta
     1321 aactatttca ctaagagagg ttatgcatgg gatggcaaaa gtgtggttcc agaaaagcca
     1381 aagaaagtaa aggatcctct tattaagaaa aacaacactt acgctccaac agcaaccagc
     1441 tacaccccta atttggccag gggcgacccg ggcttagcca ccattgctaa aagtgcaacc
     1501 atagaaccta aagaggtcaa gcccgaaaca aaaccaccag aacccaagaa aacctttaac
     1561 agtgtcagca aaattgaccg actgtcaaga atagccttcc cgctgctatt tggaatcttt
     1621 aacttagtct actgggctac gtatttaaac agagagcctc agctaaaagc ccccacacca
     1681 catcaataga tcttttactc acattctgtt gttcagtcct ctgcactggg aatttattta
     1741 tgttctcaac gcagtaattc ccatctgctt tattgcctct gtcttaaaga atttgaaagt
     1801 ttccttattt tcataattca tttaagaaca agagacccct gtctggcagt ctggagcaaa
     1861 gcagactatg cagcttggag acaggattct gacagagcaa gcgaaagagc aaagtcatgt
     1921 cagaaggaga cagaatgaga gagaaaagag ggggaagatg gttcaaagat acaagaaaaa
     1981 gtagaaaaaa aaataacact taactaaaac ccctaggtca tttgtagata tatatttcca
     2041 aatattctaa aaaagatact gtatatgtca aaaatatttt tatgtgaagg tgtttcaaag
     2101 ggtaaattat aaatgtttca tgaagaaaaa attttaaaaa tctacgtctt tattacacaa
     2161 actatggtgt gcttatgttt ttgttttgct ttttaaactg atgtatagct ttaacatttt
     2221 gtttccaaag ctgaagatcc ccattctttc tctttgaaaa aaaaaaaggc ctaatgcatt
     2281 attttgtcat aaaatgctat tttaaaattc atggaacttt catacgtaaa ggtgcagttg
     2341 ctcattgtag agcacattta gtccaatgaa gataaatgct ttaaatagtt tacttcactt
     2401 tcatctgagc ttttaccact agactcaagg aagaataatt ttaacagaca tgtatactcc
     2461 atagaaacta aactaaaata gtttaaaaat attccctttt tcaccctatt ttcagatagc
     2521 acatgagccc aacactcact taattctcat tatgaagatg tttttagagg ggcaaaaata
     2581 ttttgcaagc tctggaattg ttgaatgtat tcttttatat aactacatta aaagctttag
     2641 attgaaattt atgactagca aacaaaaata gaatatataa acgatatatg taaatataca
     2701 gcatgagatt gtacattttt tactttttta aaattgtgtt cttaaaatat tgtgtaagaa
     2761 tcactgcact tagctgttgg aatgttgtta aatgctatgg aaatacattt agaacctgca
     2821 tttaagaaca gaacagcaag tatgaaccac atggaactta aaacatatgg gtgtgaagtc
     2881 cacttatgta gacaaaactt ataatttcca aactgttgtc tagtatacag tgatcagttg
     2941 ctctctgttc aagtcattcc acacatttcc ctattttagg ctattataat atagaaagaa
     3001 aatgggaagc attagttgga gctagaaaat gaactgtata ttattgctat atttgctaat
     3061 accaactatt tcaataagtg ttgtaccata tgtagcatta aatataaaat acataaaaga
     3121 atgtacagaa aatagctttt attgagtaat attacatttc atttatactg tagcaatata
     3181 tttgtaggta tactatgtaa gggctttaaa taaaagaggt ccattaatac ttccttataa
     3241 aaattctagt ctgtttcatt actgcccaga tgttttagag ataaatattt atgcagaagg
     3301 tatttttgaa gtctcctttt gtctgataga gtttaacaga tatttaaatt tagtgctcag
     3361 aatccacaag tcacggtcta aacacactta gaatactaca gcataaatct gttagcatta
     3421 ttgccaaata agacagttgg gatccaaacc caagtcttga gcaatgtttt tctcaaaaag
     3481 ctgctatcca atgatatagg aaaatacatt gtgttttcct aaacacactt ttctttttaa
     3541 atgtgcttca ttgtttgatt tggtcctgcc taaatttcac aagctaggcc aatgaaggct
     3601 gaatcaaaga catttcatcc accaatatca tgtgtagata ttatgtatag aaaataaaat
     3661 aaattatggc tctaacttct gtgttgctgt ttatcttgtt atttttcggc gttatactaa
     3721 tgtgtttatt gagagcattt taccttccag acttctcatg gctaactttt ggtctgtatt
     3781 ttgctcctta gatgtgaata tttcttatta gtctgcttcc tgctacgcaa tgactgcatt
     3841 tctatcattt ctcagtttgt tagtatatgt ggatagtatt ctactgtata aatgattgca
     3901 aagtttatca aaaacaaatt attatatgta gcttttctac agtgctttgc taaaccatgt
     3961 agtactagtt aagtcttcct tgaaaataaa gatacactct tataggggac agttcctgtt
     4021 cactcccagg aaactttttt aaaagatgac actgaatgtt tattgcactt tagtgcagtg
     4081 aagtggcaat aaaacctaac atgaatcaag gttgtttatg gcagatgcat gtgttgcttt
     4141 acagagttta gcaaaagctc ttaattttat gtcatactgt attctactga ataataaagc
     4201 taacattatt caataataaa atggaatact tgactctc
//
