LOCUS       NM_000808               3669 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha3
            (GABRA3), mRNA.
ACCESSION   NM_000808
VERSION     NM_000808.4
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 3669)
  AUTHORS   Li,Y.Y., Zheng,X.H., Deng,A.P., Wang,Y., Liu,J., Zhou,Q.,
            Cheng,G.Y. and Jiang,Q.
  TITLE     MiR-92b inhibited cells EMT by targeting Gabra3 and predicted
            prognosis of triple negative breast cancer patients
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (23), 10433-10442 (2019)
   PUBMED   31841197
  REMARK    GeneRIF: MiR-92b inhibited cells EMT by targeting Gabra3 and
            predicted prognosis of triple negative breast cancer patients.
REFERENCE   2  (bases 1 to 3669)
  AUTHORS   Nuwer,J.L. and Fleck,M.W.
  TITLE     Anterograde trafficking signals in GABAA subunits are required for
            functional expression
  JOURNAL   Channels (Austin) 13 (1), 440-454 (2019)
   PUBMED   31610743
  REMARK    GeneRIF: The intracellular domain of GABRA3 and GABRB3 each contain
            essential anterograde trafficking signals that are required to
            overcome ER retention of assembled GABAA homo- or heteropentamers.
REFERENCE   3  (bases 1 to 3669)
  AUTHORS   Fain,J.S., Van Tongelen,A., Loriot,A. and De Smet,C.
  TITLE     Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation
            of a Segmental Duplication in the Human X Chromosome
  JOURNAL   Cytogenet Genome Res 159 (1), 12-18 (2019)
   PUBMED   31593956
  REMARK    GeneRIF: data indicate that the activation of CT-GABRA3 is
            correlated with that of MAGEA6. Therefore, MAGEA6 is linked with
            CT-GABRA3 through a bidirectional promoter.
REFERENCE   4  (bases 1 to 3669)
  AUTHORS   Stefanits,H., Milenkovic,I., Mahr,N., Pataraia,E.,
            Hainfellner,J.A., Kovacs,G.G., Sieghart,W., Yilmazer-Hanke,D. and
            Czech,T.
  TITLE     GABAA receptor subunits in the human amygdala and hippocampus:
            Immunohistochemical distribution of 7 subunits
  JOURNAL   J Comp Neurol 526 (2), 324-348 (2018)
   PUBMED   29023704
  REMARK    GeneRIF: The GABRA3 found distribute in intercalated nucleui of
            amygdala and dentate gyrus.
REFERENCE   5  (bases 1 to 3669)
  AUTHORS   Niturad,C.E., Lev,D., Kalscheuer,V.M., Charzewska,A., Schubert,J.,
            Lerman-Sagie,T., Kroes,H.Y., Oegema,R., Traverso,M., Specchio,N.,
            Lassota,M., Chelly,J., Bennett-Back,O., Carmi,N., Koffler-Brill,T.,
            Iacomino,M., Trivisano,M., Capovilla,G., Striano,P., Nawara,M.,
            Rzonca,S., Fischer,U., Bienek,M., Jensen,C., Hu,H., Thiele,H.,
            Altmuller,J., Krause,R., May,P., Becker,F., Balling,R., Biskup,S.,
            Haas,S.A., Nurnberg,P., van Gassen,K.L.I., Lerche,H., Zara,F.,
            Maljevic,S. and Leshinsky-Silver,E.
  CONSRTM   EuroEPINOMICS Consortium
  TITLE     Rare GABRA3 variants are associated with epileptic seizures,
            encephalopathy and dysmorphic features
  JOURNAL   Brain 140 (11), 2879-2894 (2017)
   PUBMED   29053855
  REMARK    GeneRIF: Five missense variants and one microduplication were
            detected in four families and two sporadic cases presenting with a
            range of epileptic seizure types, a varying degree of intellectual
            disability and developmental delay, sometimes with dysmorphic
            features or nystagmus.
REFERENCE   6  (bases 1 to 3669)
  AUTHORS   Belelli,D., Lambert,J.J., Peters,J.A., Wafford,K. and Whiting,P.J.
  TITLE     The interaction of the general anesthetic etomidate with the
            gamma-aminobutyric acid type A receptor is influenced by a single
            amino acid
  JOURNAL   Proc Natl Acad Sci U S A 94 (20), 11031-11036 (1997)
   PUBMED   9380754
REFERENCE   7  (bases 1 to 3669)
  AUTHORS   Togel,M., Mossier,B., Fuchs,K. and Sieghart,W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit
            unique pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
REFERENCE   8  (bases 1 to 3669)
  AUTHORS   Hadingham,K.L., Wingrove,P., Le Bourdelles,B., Palmer,K.J.,
            Ragan,C.I. and Whiting,P.J.
  TITLE     Cloning of cDNA sequences encoding human alpha 2 and alpha 3
            gamma-aminobutyric acidA receptor subunits and characterization of
            the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-,
            alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA
            receptors
  JOURNAL   Mol Pharmacol 43 (6), 970-975 (1993)
   PUBMED   8391122
REFERENCE   9  (bases 1 to 3669)
  AUTHORS   Bell,M.V., Bloomfield,J., McKinley,M., Patterson,M.N.,
            Darlison,M.G., Barnard,E.A. and Davies,K.E.
  TITLE     Physical linkage of a GABAA receptor subunit gene to the DXS374
            locus in human Xq28
  JOURNAL   Am J Hum Genet 45 (6), 883-888 (1989)
   PUBMED   2574000
REFERENCE   10 (bases 1 to 3669)
  AUTHORS   Buckle,V.J., Fujita,N., Ryder-Cook,A.S., Derry,J.M., Barnard,P.J.,
            Lebo,R.V., Schofield,P.R., Seeburg,P.H., Bateson,A.N.,
            Darlison,M.G. et al.
  TITLE     Chromosomal localization of GABAA receptor subunit genes:
            relationship to human genetic disease
  JOURNAL   Neuron 3 (5), 647-654 (1989)
   PUBMED   2561974
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA402645.1, BC028629.1,
            S62908.1 and AC116666.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000808.3.
            
            Summary: 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. At least 16 distinct subunits of
            GABA-A receptors have been identified. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803615.180828.1,
                                           SRR1660803.154983.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370314.9/ ENSP00000359337.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                DA402645.1         45-123
            80-734              BC028629.1         123-777
            735-1682            S62908.1           624-1571
            1683-1848           BC028629.1         1726-1891
            1849-2741           AC116666.2         101708-102600       c
            2742-3669           AC116666.2         100780-101707       c
FEATURES             Location/Qualifiers
     source          1..3669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3669
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha3"
                     /db_xref="GeneID:2556"
                     /db_xref="HGNC:HGNC:4077"
                     /db_xref="MIM:305660"
     exon            1..170
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            171..336
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..1675
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="gamma-aminobutyric acid receptor subunit alpha-3;
                     gamma-animobutyric acid (GABA) A receptor, alpha 3;
                     GABA(A) receptor subunit alpha-3; GABA(A) receptor, alpha
                     3; gamma-aminobutyric acid (GABA) A receptor, alpha 3;
                     gamma-aminobutyric acid type A receptor alpha3 subunit;
                     GABAAR subunit alpha-3"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-3
                     precursor"
                     /protein_id="NP_000799.1"
                     /db_xref="CCDS:CCDS14706.1"
                     /db_xref="GeneID:2556"
                     /db_xref="HGNC:HGNC:4077"
                     /db_xref="MIM:305660"
                     /translation="MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQD
                     IGGLSPKHAPDIPDDSTDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSF
                     GPVSDTDMEYTIDVFFRQTWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSV
                     AHNMTTPNKLLRLVDNGTLLYTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAE
                     VVYSWTLGKNKSVEVAQDGSRLNQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIG
                     YFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAY
                     ATAMDWFIAVCYAFVFSALIEFATVNYFTKRSWAWEGKKVPEALEMKKKTPAAPAKKT
                     STTFNIVGTTYPINLAKDTEFSTISKGAAPSASSTPTIIASPKATYVQDSPTETKTYN
                     SVSKVDKISRIIFPVLFAIFNLVYWATYVNRESAIKGMIRKQ"
     exon            337..458
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            459..526
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            527..747
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            748..830
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            831..974
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1127
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1339
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..3669
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3648..3653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="hexamer: ATTAAA"
     polyA_site      3669
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="major polyA site"
ORIGIN      
        1 gagcgcgcgc aagctagcga gcaaaccaga gagacagacc gagagaggga ccaggagaga
       61 gacccagaga gagaagaaga agccagaagc cgagctctgt cagggctcaa cctccaactt
      121 gtttcagttc attcatcctt ctctcctttc cgctcagact gtagagctcg gtctctccaa
      181 gtttgtgcct aagaagatga taatcacaca aacaagtcac tgttacatga ccagccttgg
      241 gattcttttc ctgattaata ttctccctgg aaccactggt caaggggaat caagacgaca
      301 agaacccggg gactttgtga agcaggacat tggcgggctg tctcctaagc atgccccaga
      361 tattcctgat gacagcactg acaacatcac tatcttcacc agaatcttgg atcgtcttct
      421 ggacggctat gacaaccggc tgcgacctgg gcttggagat gcagtgactg aagtgaagac
      481 tgacatctac gtgaccagtt ttggccctgt gtcagacact gacatggagt acactattga
      541 tgtatttttt cggcagacat ggcatgatga aagactgaaa tttgatggcc ccatgaagat
      601 ccttccactg aacaatctcc tggctagtaa gatctggaca ccggacacct tcttccacaa
      661 tggcaagaaa tcagtggctc ataacatgac cacgcccaac aagctgctca gattggtgga
      721 caacggaacc ctcctctata caatgaggtt aacaattcat gctgagtgtc ccatgcattt
      781 ggaagatttt cccatggatg tgcatgcctg cccactgaag tttggaagct atgcctatac
      841 aacagctgaa gtggtttatt cttggactct cggaaagaac aaatccgtgg aagtggcaca
      901 ggatggttct cgcttgaacc agtatgacct tttgggccat gttgttggga cagagataat
      961 ccggtctagt acaggagaat atgtcgtcat gacaacccac ttccatctca agcgaaaaat
     1021 tggctacttt gtgatccaga cctacttgcc atgtatcatg actgtcattc tgtcacaagt
     1081 gtcgttctgg ctcaacagag agtctgttcc tgcccgtaca gtctttggtg tcaccactgt
     1141 gcttaccatg accaccttga gtatcagtgc cagaaattcc ttacctaaag tggcatatgc
     1201 gacggccatg gactggttca tagccgtctg ttatgccttt gtattttctg cactgattga
     1261 atttgccact gtcaactatt tcaccaagcg gagttgggct tgggaaggca agaaggtgcc
     1321 agaggccctg gagatgaaga agaaaacacc agcagcccca gcaaagaaaa ccagcactac
     1381 cttcaacatc gtggggacca cctatcccat caacctggcc aaggacactg aattttccac
     1441 catctccaag ggcgctgctc ccagtgcctc ctcaacccca acaatcattg cttcacccaa
     1501 ggccacctac gtgcaggaca gcccgactga gaccaagacc tacaacagtg tcagcaaggt
     1561 tgacaaaatt tcccgcatca tctttcctgt gctctttgcc atattcaatc tggtctattg
     1621 ggccacatat gtcaaccggg agtcagctat caagggcatg atccgcaaac agtagatagt
     1681 ggtggcagtg cagcaaccag agcactgtat accccgtgaa gcatccaggc acccaaaccc
     1741 cggggctccc cttcgcgtat ttcaggattc tcctttttac ccctctacca agctgtgacc
     1801 ctcaattcat atttatgaat ctctacgcaa aaaataacta cagaaaaatt acttgtccct
     1861 ccaatattgc ccagtataac cccatcaaag ccaaacactg ccatttgtcc agttgctcat
     1921 cttagtctgc caatctcccc tagctgaggg cactgcatgt attttattgc actctgcccg
     1981 ctgcaaaaag aacaagagat tctactctcc atagtggaag ccttggctgt ttgagaggcc
     2041 cagaacaagg agaattgttg actcccatct agatcagatg actctaactt actaggcagc
     2101 caggttaggc taggccatgt gatcctgcgt gccacctccc ctgccttcag caaggcctac
     2161 taggcataag tactgatagc aaaggtggga gccagttcta cacccccaac ccatttattg
     2221 gtttggaaat tagtggggac aattggtact aaccaccgtc taccatgtat ggccaaaata
     2281 aatagaacta gctctgccag cctggcacca agatggctgg tgccctgcca tgtccagccc
     2341 ctcgggaaaa tagtcccctc cttggtacat ctctcctcca gaaaatcttc ttcccccact
     2401 gcctttggca cccttgtagc caactgagca ctacttaatt tggactcatt accacctgta
     2461 aacttttcag gaaaaaatga tcaagcattt tttatttata tcgaaaagtt gcaaatagaa
     2521 acaaagtgat ctagatttaa aaaaaacatt tttttaaaat atgggagaga tacaaaagtc
     2581 acctccctgc caaggcaact agcctatact ggattgggta agaggtttgg agtggatggt
     2641 agttgaggat tgaagtctgg ctcaaaagag aaggctactg gcagatgaaa gtcaaattct
     2701 tccttccata cactccacat tccacaccct ggcccaggca cttttctccc accatatcgg
     2761 gaacctccgg tcctctgttg atgccgattc tatgaggggt gaattggaaa ttcatacaaa
     2821 taaatatctc tagtcaatat tgagtcaact agatcattaa ctttattgcc aattttataa
     2881 tatattattt agaggccatt tgttcttaat cttaatgtga gtaaaagaca caggcataaa
     2941 tacgcaattt ttataaggta gataaactga atcccagaag tttgaatgat ttgcctaggc
     3001 tccttacaag tgtctttaat aaagagctat cgtgcgcccc tttccaaagg ccaaaataaa
     3061 ggactgagaa gccaggtcca ccgtgacctc agaatcagca caatctcagc gggccttctg
     3121 ggtcactagt ggaacttggt tgggcaccaa aaaggttttt agaaagtcac aatgtgtcac
     3181 ccaagaagat cacttttaat agtctcagcc caagagaatg agactgttta tgatggcagc
     3241 cccagccact ttggctctga atacctgcac tagtccagag tatcctagaa gcccagggta
     3301 aagccacaga gggcaccaca agcagattct ccctgcccac cggctgaaca aagctcctaa
     3361 ggggtgtatc attagctgct ggttgccttt tcatccatcc tttccccgtc ccctgcttcc
     3421 ttgccattgc tgggataatg catgcccgtc ccattattcc taagactgtg tctgtaggta
     3481 aattcatgac tagaagagtg tagtcttgtg gatatgtggg gatatggggg gtgggagggc
     3541 ggggctgtta atggttgtct taaggaactt agaatggaag cctgatcttt gcctctctgt
     3601 agaaattgtg tttccaaatg ctttggtgca atgtttagct gctgtttatt aaaccctttc
     3661 tgaattgta
//
