LOCUS       NM_004961               3149 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit
            epsilon (GABRE), mRNA.
ACCESSION   NM_004961
VERSION     NM_004961.4
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 3149)
  AUTHORS   Markus,F., Angelini,C., Trimouille,A., Rudolf,G., Lesca,G.,
            Goizet,C., Lasseaux,E., Arveiler,B., van Slegtenhorst,M.,
            Brooks,A.S., Abou Jamra,R., Korenke,G.C., Neidhardt,J. and
            Owczarek-Lipska,M.
  TITLE     Rare variants in the GABAA receptor subunit epsilon identified in
            patients with a wide spectrum of epileptic phenotypes
  JOURNAL   Mol Genet Genomic Med 8 (9), e1388 (2020)
   PUBMED   32588540
  REMARK    GeneRIF: Rare variants in the GABAA receptor subunit epsilon
            identified in patients with a wide spectrum of epileptic
            phenotypes.
REFERENCE   2  (bases 1 to 3149)
  AUTHORS   Smith,J.L., Ries,R.E., Hylkema,T., Alonzo,T.A., Gerbing,R.B.,
            Santaguida,M.T., Eidenschink Brodersen,L., Pardo,L., Cummings,C.L.,
            Loeb,K.R., Le,Q., Imren,S., Leonti,A.R., Gamis,A.S., Aplenc,R.,
            Kolb,E.A., Farrar,J.E., Triche,T.J. Jr., Nguyen,C., Meerzaman,D.,
            Loken,M.R., Oehler,V.G., Bolouri,H. and Meshinchi,S.
  TITLE     Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2
            Fusion-Positive AML Defines Novel Therapeutic Options: A COG and
            TARGET Pediatric AML Study
  JOURNAL   Clin Cancer Res 26 (3), 726-737 (2020)
   PUBMED   31719049
  REMARK    GeneRIF: Comprehensive Transcriptome Profiling of Cryptic
            CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic
            Options: A COG and TARGET Pediatric AML Study.
REFERENCE   3  (bases 1 to 3149)
  AUTHORS   Garcia-Martin,E., Esguevillas,G., Serrador,M., Alonso-Navarro,H.,
            Navacerrada,F., Amo,G., Garcia-Albea,E., Agundez,J.A.G. and
            Jimenez-Jimenez,F.J.
  TITLE     Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ
            gene polymorphisms and risk for migraine
  JOURNAL   J Neural Transm (Vienna) 125 (4), 689-698 (2018)
   PUBMED   29299688
  REMARK    GeneRIF: data from the present study suggest a marginal role of
            GABRE rs1139916 in the risk for migraine in women.
REFERENCE   4  (bases 1 to 3149)
  AUTHORS   Bristow,G.C., Bostrom,J.A., Haroutunian,V. and Sodhi,M.S.
  TITLE     Sex differences in GABAergic gene expression occur in the anterior
            cingulate cortex in schizophrenia
  JOURNAL   Schizophr Res 167 (1-3), 57-63 (2015)
   PUBMED   25660468
  REMARK    GeneRIF: This study showed that in male groups, the expression of
            GABRE was generally lower in schizophrenia cases compared to the
            control.
REFERENCE   5  (bases 1 to 3149)
  AUTHORS   Kristensen,H., Haldrup,C., Strand,S., Mundbjerg,K., Mortensen,M.M.,
            Thorsen,K., Ostenfeld,M.S., Wild,P.J., Arsov,C., Goering,W.,
            Visakorpi,T., Egevad,L., Lindberg,J., Gronberg,H., Hoyer,S.,
            Borre,M., Orntoft,T.F. and Sorensen,K.D.
  TITLE     Hypermethylation of the GABRE miR-452 miR-224 promoter in prostate
            cancer predicts biochemical recurrence after radical prostatectomy
  JOURNAL   Clin Cancer Res 20 (8), 2169-2181 (2014)
   PUBMED   24737792
  REMARK    GeneRIF: Data indicate that GABA(A) receptor subunit epsilon
            (GABRE) approximately miR-452 approximately miR-224 locus is
            downregulated and hypermethylated in prostate cancer and is a
            promising epigenetic candidate biomarker for prostate cancer
            diagnosis and prognosis.
REFERENCE   6  (bases 1 to 3149)
  AUTHORS   Neelands,T.R., Fisher,J.L., Bianchi,M. and Macdonald,R.L.
  TITLE     Spontaneous and gamma-aminobutyric acid (GABA)-activated GABA(A)
            receptor channels formed by epsilon subunit-containing isoforms
  JOURNAL   Mol Pharmacol 55 (1), 168-178 (1999)
   PUBMED   9882711
REFERENCE   7  (bases 1 to 3149)
  AUTHORS   Wilke,K., Gaul,R., Klauck,S.M. and Poustka,A.
  TITLE     A gene in human chromosome band Xq28 (GABRE) defines a putative new
            subunit class of the GABAA neurotransmitter receptor
  JOURNAL   Genomics 45 (1), 1-10 (1997)
   PUBMED   9339354
REFERENCE   8  (bases 1 to 3149)
  AUTHORS   Whiting,P.J., McAllister,G., Vassilatis,D., Bonnert,T.P.,
            Heavens,R.P., Smith,D.W., Hewson,L., O'Donnell,R., Rigby,M.R.,
            Sirinathsinghji,D.J., Marshall,G., Thompson,S.A., Wafford,K.A. and
            Vasilatis,D.
  TITLE     Neuronally restricted RNA splicing regulates the expression of a
            novel GABAA receptor subunit conferring atypical functional
            properties [corrected; erratum to be published]
  JOURNAL   J Neurosci 17 (13), 5027-5037 (1997)
   PUBMED   9185540
REFERENCE   9  (bases 1 to 3149)
  AUTHORS   Garret,M., Bascles,L., Boue-Grabot,E., Sartor,P., Charron,G.,
            Bloch,B. and Margolskee,R.F.
  TITLE     An mRNA encoding a putative GABA-gated chloride channel is
            expressed in the human cardiac conduction system
  JOURNAL   J Neurochem 68 (4), 1382-1389 (1997)
   PUBMED   9084408
REFERENCE   10 (bases 1 to 3149)
  AUTHORS   Davies,P.A., Hanna,M.C., Hales,T.G. and Kirkness,E.F.
  TITLE     Insensitivity to anaesthetic agents conferred by a class of GABA(A)
            receptor subunit
  JOURNAL   Nature 385 (6619), 820-823 (1997)
   PUBMED   9039914
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y09765.1, U92285.1 and
            BC026337.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004961.3.
            
            Summary: The product of this gene belongs to the ligand-gated ionic
            channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid
            (GABA) A receptor which is a multisubunit chloride channel that
            mediates the fastest inhibitory synaptic transmission in the
            central nervous system. This gene encodes an epsilon subunit. It is
            mapped to chromosome Xq28 in a cluster comprised of genes encoding
            alpha 3, beta 4 and theta subunits of the same receptor.
            Alternatively spliced transcript variants have been identified, but
            only one is thought to encode a protein. [provided by RefSeq, Oct
            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 :: U66661.1, Y09765.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370328.4/ ENSP00000359353.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1764              Y09765.1           4-1767
            1765-3118           U92285.1           4793-6146
            3119-3149           BC026337.1         3212-3242
FEATURES             Location/Qualifiers
     source          1..3149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3149
                     /gene="GABRE"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     epsilon"
                     /db_xref="GeneID:2564"
                     /db_xref="HGNC:HGNC:4085"
                     /db_xref="MIM:300093"
     exon            1..107
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1572
                     /gene="GABRE"
                     /note="gamma-aminobutyric acid receptor subunit epsilon;
                     GABA(A) receptor subunit epsilon; GABA(A) receptor,
                     epsilon; gamma-aminobutyric acid (GABA) A receptor,
                     epsilon; gamma-aminobutyric acid type A receptor epsilon
                     subunit; GABAAR subunit epsilon"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit epsilon
                     precursor"
                     /protein_id="NP_004952.2"
                     /db_xref="CCDS:CCDS14703.1"
                     /db_xref="GeneID:2564"
                     /db_xref="HGNC:HGNC:4085"
                     /db_xref="MIM:300093"
                     /translation="MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQP
                     LENQLLSEETKSTETETGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEIS
                     VNSLGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNS
                     KRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCPLSFSSFSY
                     PENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRR
                     FGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTMTTLGTFSRKNFPRV
                     SYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRA
                     RSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGSPEGPRSLCSKLACCEWC
                     KRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL"
     exon            108..325
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            326..393
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            394..614
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            615..697
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            698..835
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            836..988
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1188
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..3149
                     /gene="GABRE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3129..3134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRE"
                     /note="hexamer: AATAAA"
     polyA_site      3149
                     /gene="GABRE"
                     /note="major polyA site"
ORIGIN      
        1 agagcgtgag ccgcgacctc cgcgcaggtg gtcgcgccgg tctccgcgga aatgttgtcc
       61 aaagttcttc cagtcctcct aggcatctta ttgatcctcc agtcgagggt cgagggacct
      121 cagactgaat caaagaatga agcctcttcc cgtgatgttg tctatggccc ccagccccag
      181 cctctggaaa atcagctcct ctctgaggaa acaaagtcaa ctgagactga gactgggagc
      241 agagttggca aactgccaga agcctctcgc atcctgaaca ctatcctgag taattatgac
      301 cacaaactgc gccctggcat tggagagaag cccactgtgg tcactgttga gatctccgtc
      361 aacagccttg gtcctctctc tatcctagac atggaataca ccattgacat catcttctcc
      421 cagacctggt acgacgaacg cctctgttac aacgacacct ttgagtctct tgttctgaat
      481 ggcaatgtgg tgagccagct atggatcccg gacacctttt ttaggaattc taagaggacc
      541 cacgagcatg agatcaccat gcccaaccag atggtccgca tctacaagga tggcaaggtg
      601 ttgtacacaa ttaggatgac cattgatgcc ggatgctcac tccacatgct cagatttcca
      661 atggattctc actcttgccc tctatctttc tctagctttt cctatcctga gaatgagatg
      721 atctacaagt gggaaaattt caagcttgaa atcaatgaga agaactcctg gaagctcttc
      781 cagtttgatt ttacaggagt gagcaacaaa actgaaataa tcacaacccc agttggtgac
      841 ttcatggtca tgacgatttt cttcaatgtg agcaggcggt ttggctatgt tgcctttcaa
      901 aactatgtcc cttcttccgt gaccacgatg ctctcctggg tttccttttg gatcaagaca
      961 gagtctgctc cagcccggac ctctctaggg atcacctctg ttctgaccat gaccacgttg
     1021 ggcacctttt ctcgtaagaa tttcccgcgt gtctcctata tcacagcctt ggatttctat
     1081 atcgccatct gcttcgtctt ctgcttctgc gctctgttgg agtttgctgt gctcaacttc
     1141 ctgatctaca accagacaaa agcccatgct tctcctaaac tccgccatcc tcgtatcaat
     1201 agccgtgccc atgcccgtac ccgtgcacgt tcccgagcct gtgcccgcca acatcaggaa
     1261 gcttttgtgt gccagattgt caccactgag ggaagtgatg gagaggagcg cccgtcttgc
     1321 tcagcccagc agccccctag cccaggtagc cctgagggtc cccgcagcct ctgctccaag
     1381 ctggcctgct gtgagtggtg caagcgtttt aagaagtact tctgcatggt ccccgattgt
     1441 gagggcagta cctggcagca gggccgcctc tgcatccatg tctaccgcct ggataactac
     1501 tcgagagttg ttttcccagt gactttcttc ttcttcaatg tgctctactg gcttgtttgc
     1561 cttaacttgt aggtaccagc tggtaccctg tggggcaacc tctccagttc cccaggaggt
     1621 ccaagcccct tgccaaggga gttgggggaa agcagcagca gcagcaggag cgactagagt
     1681 ttttcctgcc ccattcccca aacagaagct tgcagagggt ttgtctttgc tgcccctctc
     1741 ccctacctgg cccattcact gagtcttctc agcagaccat ttcaaattat taataaatgg
     1801 gccacctccc tcttcttcaa ggagcatccg tgatgctcag tgttcaaaac cacagccact
     1861 tagtgatcag ctccctaaaa ccatgcctaa gtacaggcgg attagctatc ttccaacaat
     1921 gctgaccacc agacaattac tgcatttttc cagaagccca ctattgcctt tgtagtgctt
     1981 tcggcccagt tctggcctca gcctcaaagt gcaccgacta gttgcttgcc tatacctggc
     2041 acctcattaa gatgctgggc agcagtataa caggaggaag agatccctct cctttggtca
     2101 gattattatg ttctcagttc tctctccctg ctaccccttt ctctgcagat agatagacac
     2161 tggcattatc cctttaggaa gagggggggg cagcaagaga gcctatttgg gacagcattc
     2221 ctctctctct gctgctgtga catctccctc tccttgctgg ctccatcttt cgtctgcact
     2281 accaattcaa tgcccttcat ccaatgggta tctatttttg tgtgtgatta tagtaactac
     2341 tccctgcttt atatgccacc ctcttccttc tctttgaccc ctgtgactct ttctgtaact
     2401 ttcccagtga cttcccctag ccctgaccca ggcactaggc cttggtgact tcctggggcc
     2461 aagaaactaa ggaaactcgg ctttgcaaca ggcattactc gccattgatt ggtgcccacc
     2521 cagggcacac tgtcggagtt ctatcacttg cttgacccct ggacccataa accagtccac
     2581 tgttataccc ggggcactct aaccatcaca atcaatcaat caaattccct taaatttgta
     2641 tggcactgga actttggcaa agcacttttg acaagttgtg tctgattgga gcttcatgat
     2701 agccttgtga catctttagg gcaggattct tatccccatt ttgcagatga aaaccctgag
     2761 tcacagattt ctgtgggact gtggatctca ctggaagcta tccaagagcc cactgtcacc
     2821 ttctagacca catgataggg ctagacagct cagttcacca tgattctctt ctgtcacctc
     2881 tgctggcaca ccagtggcaa ggcccagaat ggcgacctct ctttagctca atttctgggc
     2941 ctgaggtgct cagactgccc ccaagatcaa atctctcctg gctgtagtaa cccagtggaa
     3001 tgaatttgga catgccccaa tgcttctata tgctaagtga aatctgtgtc tgtaatttgt
     3061 tggggggtgg atagggtggg gtctccatct actttttgtc accatcatct gaaatgggga
     3121 aatatgtaaa taaatatatc agcaaagca
//
