LOCUS       NM_000815               1914 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit delta
            (GABRD), mRNA.
ACCESSION   NM_000815
VERSION     NM_000815.5
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 1914)
  AUTHORS   Pelgrims,E., Lynch,S.A., Hannes,L., Hoffer,M.J.V., Melotte,C., Van
            Haeringen,A., Swillen,A. and Breckpot,J.
  TITLE     Triplications of chromosome 1p36.3, including the genes GABRD and
            SKI, are associated with a developmental disorder and a facial
            gestalt
  JOURNAL   Am J Med Genet A 191 (7), 1889-1899 (2023)
   PUBMED   37129290
  REMARK    GeneRIF: Triplications of chromosome 1p36.3, including the genes
            GABRD and SKI, are associated with a developmental disorder and a
            facial gestalt.
REFERENCE   2  (bases 1 to 1914)
  AUTHORS   Xie,X., Zhuang,D., Gu,J., Wu,T., Shen,W., Li,L., Liu,Y., Xu,W.,
            Hong,Q., Xu,Z., Chen,W., Zhou,W. and Liu,H.
  TITLE     Association of GABA receptor delta subunit gene variations with
            increased risk of methamphetamine dependence
  JOURNAL   Neurosci Lett 800, 137137 (2023)
   PUBMED   36804572
  REMARK    GeneRIF: Association of GABA receptor delta subunit gene variations
            with increased risk of methamphetamine dependence.
REFERENCE   3  (bases 1 to 1914)
  AUTHORS   Li,N., Xu,X., Liu,D., Gao,J., Gao,Y., Wu,X., Sheng,H., Li,Q. and
            Mi,J.
  TITLE     The delta subunit of the GABAA receptor is necessary for the
            GPT2-promoted breast cancer metastasis
  JOURNAL   Theranostics 13 (4), 1355-1369 (2023)
   PUBMED   36923530
  REMARK    GeneRIF: The delta subunit of the GABAA receptor is necessary for
            the GPT2-promoted breast cancer metastasis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1914)
  AUTHORS   Lin,Y.F., Chou,W.H., Liu,T.H., Fang,C.P., Kuo,H.W., Kuo,P.H.,
            Tsai,S.J., Wang,S.C., Chung,R.H., Tsou,H.H., Chen,A.C.H. and
            Liu,Y.L.
  TITLE     Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta
            Subunit Are Associated with Amphetamine Use in Patients under
            Methadone Maintenance Treatment
  JOURNAL   Int J Mol Sci 24 (1), 721 (2022)
   PUBMED   36614162
  REMARK    GeneRIF: Splice-Site Variants in the Gene Encoding GABA-A Receptor
            Delta Subunit Are Associated with Amphetamine Use in Patients under
            Methadone Maintenance Treatment.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1914)
  AUTHORS   Sente,A., Desai,R., Naydenova,K., Malinauskas,T., Jounaidi,Y.,
            Miehling,J., Zhou,X., Masiulis,S., Hardwick,S.W., Chirgadze,D.Y.,
            Miller,K.W. and Aricescu,A.R.
  TITLE     Differential assembly diversifies GABAA receptor structures and
            signalling
  JOURNAL   Nature 604 (7904), 190-194 (2022)
   PUBMED   35355020
REFERENCE   6  (bases 1 to 1914)
  AUTHORS   Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A. and Sander,T.
  TITLE     Association analysis of the Arg220His variation of the human gene
            encoding the GABA delta subunit with idiopathic generalized
            epilepsy
  JOURNAL   Epilepsy Res 65 (1-2), 53-57 (2005)
   PUBMED   16023832
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1914)
  AUTHORS   Dibbens,L.M., Feng,H.J., Richards,M.C., Harkin,L.A., Hodgson,B.L.,
            Scott,D., Jenkins,M., Petrou,S., Sutherland,G.R., Scheffer,I.E.,
            Berkovic,S.F., Macdonald,R.L. and Mulley,J.C.
  TITLE     GABRD encoding a protein for extra- or peri-synaptic GABAA
            receptors is a susceptibility locus for generalized epilepsies
  JOURNAL   Hum Mol Genet 13 (13), 1315-1319 (2004)
   PUBMED   15115768
REFERENCE   8  (bases 1 to 1914)
  AUTHORS   Windpassinger,C., Kroisel,P.M., Wagner,K. and Petek,E.
  TITLE     The human gamma-aminobutyric acid A receptor delta (GABRD) gene:
            molecular characterisation and tissue-specific expression
  JOURNAL   Gene 292 (1-2), 25-31 (2002)
   PUBMED   12119096
REFERENCE   9  (bases 1 to 1914)
  AUTHORS   Emberger,W., Windpassinger,C., Petek,E., Kroisel,P.M. and Wagner,K.
  TITLE     Assignment of the human GABAA receptor delta-subunit gene (GABRD)
            to chromosome band 1p36.3 distal to marker NIB1364 by radiation
            hybrid mapping
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 281-282 (2000)
   PUBMED   10965146
REFERENCE   10 (bases 1 to 1914)
  AUTHORS   Sommer,B., Poustka,A., Spurr,N.K. and Seeburg,P.H.
  TITLE     The murine GABAA receptor delta-subunit gene: structure and
            assignment to human chromosome 1
  JOURNAL   DNA Cell Biol 9 (8), 561-568 (1990)
   PUBMED   2176788
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA060315.1, BC033801.1,
            AK290861.1, AW291520.1 and AL391845.49.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000815.4.
            
            Summary: Gamma-aminobutyric acid (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. The GABA-A
            receptor is generally pentameric and there are five types of
            subunits: alpha, beta, gamma, delta, and rho. This gene encodes the
            delta subunit. Mutations in this gene have been associated with
            susceptibility to generalized epilepsy with febrile seizures, type
            5. Alternatively spliced transcript variants have been described
            for this gene, but their biological validity has not been
            determined. [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 :: SRR3476690.662596.1,
                                           SRR3476690.1096401.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378585.7/ ENSP00000367848.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                DA060315.1         17-84
            69-408              BC033801.1         1-340
            409-1840            AK290861.1         406-1837
            1841-1907           BC033801.1         1773-1839
            1908-1909           AW291520.1         18-19               c
            1910-1914           AL391845.49        70739-70743
FEATURES             Location/Qualifiers
     source          1..1914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..1914
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     delta"
                     /db_xref="GeneID:2563"
                     /db_xref="HGNC:HGNC:4084"
                     /db_xref="MIM:137163"
     exon            1..147
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1438
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="gamma-aminobutyric acid receptor subunit delta;
                     GABA-A receptor, delta polypeptide; GABA(A) receptor
                     subunit delta; GABA(A) receptor, delta; gamma-aminobutyric
                     acid (GABA) A receptor, delta; gamma-aminobutyric acid
                     type A receptor delta subunit; GABAAR subunit delta"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit delta
                     precursor"
                     /protein_id="NP_000806.2"
                     /db_xref="CCDS:CCDS36.1"
                     /db_xref="GeneID:2563"
                     /db_xref="HGNC:HGNC:4084"
                     /db_xref="MIM:137163"
                     /translation="MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNL
                     DGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSY
                     NHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITS
                     TVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITS
                     YRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAV
                     PARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFN
                     ADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYR
                     SVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAY
                     AM"
     exon            148..260
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            261..328
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            329..549
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            550..632
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            633..770
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            771..926
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1138
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1914
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="hexamer: AATAAA"
     polyA_site      1914
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="major polyA site"
ORIGIN      
        1 agctcccgcc cgcctgtgcc gcctgtgcgg ccgccgggag ccaagtttgc gcggaccccg
       61 tcccgagccc gccgcggcca tggacgcgcc cgcccggctg ctggccccgc tcctgctcct
      121 ctgcgcgcag cagctccgcg gcaccagagc gatgaatgac atcggcgact acgtgggctc
      181 caacctggag atctcctggc tccccaacct ggacgggctg atagccggct acgcccgcaa
      241 cttccggcct ggcatcggag gcccccccgt gaatgtggcc cttgccctgg aggtggccag
      301 catcgaccac atctcagagg ccaacatgga gtacaccatg acggtgttcc tgcaccagag
      361 ctggcgggac agcaggctct cctacaacca caccaacgag accctgggtc tggacagccg
      421 cttcgtggac aagctgtggc tgcccgacac cttcatcgtg aacgccaagt cggcctggtt
      481 ccacgacgtg acggtggaga acaagctcat ccggctgcag cccgacggcg tgatcctgta
      541 cagcatccga atcacctcca ctgtggcctg cgacatggac ctggccaaat accccatgga
      601 cgagcaggag tgcatgctgg acctggagag ctacggttac tcatcggagg acatcgtcta
      661 ctactggtcg gagagccagg agcacatcca cgggctggac aagctgcagc tggcgcagtt
      721 caccatcacc agctaccgct tcaccacgga gctgatgaac ttcaagtccg ctggccagtt
      781 cccacggctc agcctgcact tccacctgcg gaggaaccgc ggcgtgtaca tcatccaatc
      841 ctacatgccc tccgtcctgc tggtcgccat gtcctgggtc tccttctgga tcagccaggc
      901 ggcggtgccc gccagggtgt ctctaggcat caccacggtg ctgacgatga ccacgctcat
      961 ggtcagtgcc cgctcctccc tgccacgggc atcagccatc aaggcactgg acgtctactt
     1021 ctggatctgc tatgtcttcg tgtttgccgc cctggtggag tacgcctttg ctcatttcaa
     1081 cgccgactac aggaagaagc agaaggccaa ggtcaaggtc tccaggccga gggcagagat
     1141 ggacgtgagg aacgccattg tcctcttctc cctctctgct gccggcgtca cgcaggagct
     1201 ggccatctcc cgccggcagc gccgcgtccc ggggaacctg atgggctcct acaggtcggt
     1261 gggggtggag acaggggaga cgaagaagga gggggcagcc cgctcaggag gccagggggg
     1321 catccgtgcc cggctcaggc ccatcgacgc agacaccatt gacatttacg cccgcgctgt
     1381 gttccctgcg gcgtttgcgg ccgtcaatgt catctactgg gcggcatacg ccatgtgagc
     1441 acaggactca ggccaccctc gcttgtcctg gcgcccggcg gcagctgccc agaaacttcc
     1501 tgggagaaag agccctcggg ctgccttccc ctctgcgtgt ttcgaagtgg gatgacagtc
     1561 ggccacggaa aacaagagga agcctcggcc tccctgagct ctgaccccag cctcacccga
     1621 aaggccagcc tggggctctc cggcaggcag cccgagacct gcacagatga aggagcagag
     1681 gttctgaccg agaggctgag ccaggccggg gtctgggccc ttcagggagc cgcggatttt
     1741 tatgttcaga aagtgatcct ggtttctagg tctttgctct gcaggatcgg gatcagagcg
     1801 tgggaggagg tgggggtgga cgtccatccg gtgaacagtg aaggcgtttg tgaggtcttt
     1861 ctggtcccag catgaaataa agccttggcc tgggggccgc ttcattctcc ctca
//
